Congenital asymptomatic diaphragmatic hernias in adults: a case series

PubMed Central

2013-01-01

Introduction Congenital diaphragmatic hernia is a major malformation occasionally found in newborns and babies. Congenital diaphragmatic hernia is defined by the presence of an orifice in the diaphragm, more often to the left and posterolateral, that permits the herniation of abdominal contents into the thorax. The aim of this case series is to provide information on the presentation, diagnosis and outcome of three patients with late-presenting congenital diaphragmatic hernias. The diagnosis of congenital diaphragmatic hernia is based on clinical investigation and is confirmed by plain X-ray films and computed tomography scans. Case presentations In the present report three cases of asymptomatic abdominal viscera herniation within the thorax are described. The first case concerns herniation of some loops of the large intestine into the left hemi-thorax in a 75-year-old Caucasian Italian woman. The second case concerns a rare type of herniation in the right side of the thorax of the right kidney with a part of the liver parenchyma in a 57-year-old Caucasian Italian woman. The third case concerns herniation of the stomach and bowel into the left side of the chest with compression of the left lung in a 32-year-old Caucasian Italian man. This type of hernia may appear later in life, because of concomitant respiratory or gastrointestinal disease, or it may be an incidental finding in asymptomatic adults, such as in the three cases featured here. Conclusions Patients who present with late diaphragmatic hernias complain of a wide variety of symptoms, and diagnosis may be difficult. Additional investigation and research appear necessary to better explain the development and progression of this type of disease. PMID:23668793

Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR.

PubMed

Basgul, A; Kavak, Z N; Akman, I; Basgul, A; Gokaslan, H; Elcioglu, N

2006-01-01

Wolf-Hirschhorn syndrome (WHS) is a rare distinct clinical entity caused by a deletion of the short arm of chromosome 4. We report a case in which intrauterine growth restriction (IUGR), severe oligohydramnios, left-sided congenital diaphragmtic hernia (CDH), and cystic hygroma were detected by prenatal ultrasound examination at 27 weeks of gestation. A 29-year-old gravida 3, para 2, woman was referred at 26 weeks' gestation with suspicion of IUGR and cystic hygroma. Sonographic examination revealed IUGR with severe oligohydramnios, increased nuchal fold with cystic hygroma (left-sided diaphragmatic defect of Bochdalek type), and congenital diaphragmatic hernia. Chromosome analysis revealed a 46, XX, del(4)(p15.2) karyotype. Autopsy confirmed the ultrasound findings. Congenital diaphragmatic hernia (CDH) has rarely been described to be associated with WHS. CDH and cystic hygroma can lead to a diagnosis of this syndrome very early in life. We recommend genetic evaluation of a fetus with cystic hygroma, IUGR and CDH taking into consideration 4p deletion syndrome.

Stomach in Contact with the Bladder: A Sonographic Sign of Left Congenital Diaphragmatic Hernia.

PubMed

Aiello, Horacio; Meller, César; Vázquez, Lucía; Otaño, Lucas

2016-01-01

The evaluation of the characteristics of the fetal stomach should be part of every routine prenatal ultrasound after 11 weeks. A position that has not been previously described in the literature is the stomach in contact with the bladder. We describe 6 cases with the ultrasonographic finding of the stomach in contact with the bladder, all of them in fetuses with left-sided congenital diaphragmatic hernia. Even though the reasons for this striking position of the stomach are not clear, our series highlights the fact that the visualization of the stomach in contact with the bladder may be a specific sonographic marker of congenital diaphragmatic hernia. © 2015 S. Karger AG, Basel.

The Burnia: Laparoscopic Sutureless Inguinal Hernia Repair in Girls.

PubMed

Novotny, Nathan M; Puentes, Maria C; Leopold, Rodrigo; Ortega, Mabel; Godoy-Lenz, Jorge

2017-04-01

Laparoscopic inguinal hernia repair in children is in evolution. Multiple methods of passing the suture around the peritoneum at the level of the internal inguinal ring exist. Cauterization of the peritoneum at the internal ring is thought to increase scarring and decrease recurrence. We have employed a sutureless, cautery only, laparoscopic single port repair of inguinal hernias and patent processus vaginalis (PPV) in girls. After institutional ethical review was obtained, a retrospective review of sutureless laparoscopic inguinal hernia repairs in girls by 4 surgeons at separate institutions was performed. Patient demographics, intraoperative findings, and postoperative outcomes were recorded and analyzed. The technique involves an umbilical 30° camera and either a separate 3 mm stab incision in the midclavicular line or a 3 mm Maryland grasper placed next to the camera, and the distal most portion of the hernia sac is grasped and pulled into the abdomen and cauterized obliterating the sac. Eighty inguinal hernias were repaired using this technique in 67 girls between July 2009 and September 2015. The ages and weights ranged from 1 month to 16 years and from 2 to 69 kg, respectively. There was one conversion to open approach because an incarcerated ovary was too close to the ring. A single umbilical incision was utilized in 85%. Fifty-seven percent patients had hernias on the right whereas 42% had hernias on the left. Of the patients with presumed unilateral hernias, 22 patients were found to have PPV and were treated through the same incisions, 17/22 were found during a contralateral hernia surgery and 5/22 were found incidentally during appendectomy. Average operative time for unilateral and bilateral hernias was 22 minutes (5-38 minutes) and 31 minutes (11-65 minutes), respectively. No patient required a hospital stay because of the hernia repair. At an average of 25 months follow-up (1.6-75 months), there were no recurrences. The only complication was a single lateral port site hernia on a 2 kg, former 24 week postmenstrual age girl before adapting the technique to single-site surgery for all. Laparoscopic sutureless inguinal hernia repair is safe and effective in girls of all ages. The single-site modification allows for superior cosmetic result and lower complication profile. The Burnia allows for adequate treatment of unilateral and bilateral inguinal hernias with a single incision in the umbilicus.

Incarceration of Meckel's diverticulum in a left paraduodenal Treitz' hernia.

PubMed

Gerdes, Christoph; Akkermann, Oke; Krüger, Volker; Gerdes, Anna; Gerdes, Berthold

2015-08-16

Meckel's diverticula incarcerated in a hernia were first described anecdotally by Littré, a French surgeon, in 1700. Meckel, a German anatomist and surgeon, explained the pathophysiology of this disease 100 years later. In addition, a congenital paraduodenal mesocolic hernia, known as a Treitz hernia, is a rare cause of small bowel obstruction. These hernias are caused by an abnormal rotation of the primitive midgut, resulting in a right or left paraduodenal hernia. We treated a patient presenting with pain and diagnosed extraluminal air in the abdomen after a computed tomography examination. We performed a laparotomy and found a combination of these two seldomly occurring congenital diseases, incarceration and perforation of Meckel's diverticulum in a left paraduodenal hernia. We performed a thorough review of the literature, and this report is the first to describe a patient with a combination of these two rare conditions. We considered the case regarding the variety of terminology as well as the treatment options of these conditions.

Anterior Abdominal Wall Defects, Diaphragmatic Hernia, and Other Major Congenital Malformations of the Musculoskeletal System in Barbados, 1993-2012.

PubMed

Singh, Keerti; Kumar, Alok

2017-06-01

This study describes the prevalence and patterns of major congenital malformations of the musculoskeletal system and the resulting morbidity and mortality. It is a retrospective population-based study over the period 1993 to 2012. The overall prevalence of major congenital malformations of the musculoskeletal system was 9.02/10,000 live births. The prevalences of omphalocele, gastroschisis, and diaphragmatic hernia were 2.53, 2.22, and 1.42 per 10,000 live births, respectively. The case fatality ratio for the omphalocele, gastroschisis, and diaphragmatic hernia was 12.5, 28.5, and 67%, respectively. In conclusion, the prevalence rate of the major congenital malformations of the musculoskeletal system was higher than those reported in retrospective studies from other countries and remained static during the study period. These defects were associated with a high mortality rate and contributed significantly to the overall neonatal mortality in this country.

Congenital Diaphragmatic Hernia and Occupational Therapy: A Case Report

ERIC Educational Resources Information Center

Bates, Angela C.

2011-01-01

This case report describes occupational therapy (OT) intervention in an outpatient setting and outcomes for a child diagnosed with congenital diaphragmatic hernia (CDH) from 4 to 28 months of age. There is little information on therapy intervention and outcomes of children who have survived. The patient is a white male, born at 35 weeks gestation…

Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome.

PubMed

Gupta, N; Shastri, S; Singh, P K; Jana, M; Mridha, A; Verma, G; Kabra, M

2016-11-01

An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Jarcho-Levin syndrome presenting with diaphragmatic hernia.

PubMed

Onay, O S; Kinik, S T; Otgün, Y; Arda, I S; Varan, B

2008-08-01

Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple vertebral anomalies. The prognosis is directly related to respiratory complications. Reported findings associated with Jarcho-Levin syndrome include congenital heart defects, abdominal wall malformations, genitourinary malformations, upper limb anomalies, and neural tube defects. We report on a 6-day-old girl who presented with an incomplete form of Jarcho-Levin syndrome with late-presenting congenital diaphragmatic hernia and congenital heart disease.

Preoperative ultrasonographic evaluation of the contralateral patent processus vaginalis at the level of the internal inguinal ring is useful for predicting contralateral inguinal hernias in children: a prospective analysis.

PubMed

Kaneda, H; Furuya, T; Sugito, K; Goto, S; Kawashima, H; Inoue, M; Hosoda, T; Masuko, T; Ohashi, K; Ikeda, T; Koshinaga, T; Hoshino, M; Goto, H

2015-08-01

The current study aimed to verify the usefulness of preoperative ultrasonographic evaluation of contralateral patent processus vaginalis (PPV) at the level of the internal inguinal ring. This was a prospective study of patients undergoing unilateral inguinal hernia repair at two institutions during 2010-2011. The sex, age at initial operation, birth weight, initial operation side, and the preoperative diameter of the contralateral PPV as determined using ultrasonography (US) were recorded. We analyzed the incidence of contralateral inguinal hernia, risk factors, and the usefulness of the preoperative major diameter of the contralateral PPV. The follow-up period was 36 months. All 105 patients who underwent unilateral hernia repair completed 36 months of follow-up, during which 11 patients (10.5 %) developed a contralateral hernia. The following covariates were not associated with contralateral hernia development: sex (p = 0.350), age (p = 0.185), birth weight (p = 0.939), and initial operation side (p = 0.350). The preoperative major diameter of the contralateral PPV determined using US was significantly wider among patients with a contralateral hernia than those without a contralateral hernia (p = 0.001). When the 105 patients were divided into two groups according to cut-off values of the preoperative major diameter of the contralateral PPV (wide group, >2.0 mm; narrow group, ≤2.0 mm), a significant association was observed between the preoperative major diameter of the contralateral PPV and patient outcomes (p = 0.001). We used US and confirmed the usefulness of a preoperative evaluation of the major diameter of the contralateral PPV at the level of the internal inguinal ring in pediatric patients with unilateral inguinal hernias.

Congenital diaphragmatic hernia in a case of patau syndrome: a rare association.

PubMed

A, Jain; P, Kumar; A, Jindal; Yk, Sarin

2015-01-01

Congenital diaphragmatic hernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions.. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done, but eventually the case succumbed as a result of multiple fatal co-morbidities.

Congenital Diaphragmatic Hernia in a Case of Patau Syndrome: A Rare Association

PubMed Central

A, Jain; P, Kumar; A, Jindal; Yk, Sarin

2015-01-01

Congenital diaphragmatic hernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions.. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done, but eventually the case succumbed as a result of multiple fatal co-morbidities. PMID:26034714

Rate and Risk Factors Associated with Autism Spectrum Disorder in Congenital Diaphragmatic Hernia

ERIC Educational Resources Information Center

Danzer, Enrico; Hoffman, Casey; D'Agostino, Jo Ann; Miller, Judith S.; Waqar, Lindsay N.; Gerdes, Marsha; Bernbaum, Judy C.; Rosenthal, Hannah; Rintoul, Natalie E.; Herkert, Lisa M.; Peranteau, William H.; Flake, Alan W.; Adzick, N. Scott; Hedrick, Holly L.

2018-01-01

To determine the rate and predictors of autism spectrum disorder (ASD) in congenital diaphragmatic hernia (CDH). Between 06/2004 and 09/2015 a total of 110 CDH survivors underwent neurodevelopmental (ND) testing and screening for ASD, followed by a full autism diagnostic evaluation if indicated at our institution. We found a 9 time higher rate of…

[Diagnosis of diaphragmatic hernia].

PubMed

Alecu, L

2002-01-01

Diaphragmatic hernias (congenital and traumatic) belongs to thoracoabdominal surgery which is a borderline chapter. Considering frequency, they are on the second place in the diaphragmatic pathology, after hiatal hernias. The author presents the criterias of the clinical examination, based on the bibliographic datas: also by presents the imagistic investigations used for identification of the diaphragmatic hernias, excepting the oesophageal hiatus hernias. There are some particular features appearing in the diagnostical algorithm, too.

Endoscopic repair of primary versus recurrent male unilateral inguinal hernias: Are there differences in the outcome?

PubMed

Köckerling, F; Jacob, D; Wiegank, W; Hukauf, M; Schug-Pass, C; Kuthe, A; Bittner, R

2016-03-01

To date, there are no prospective randomized studies that compare the outcome of endoscopic repair of primary versus recurrent inguinal hernias. It is therefore now attempted to answer that key question on the basis of registry data. In total, 20,624 patients were enrolled between September 1, 2009, and April 31, 2013. Of these patients, 18,142 (88.0%) had a primary and 2482 (12.0%) had a recurrent endoscopic repair. Only patients with male unilateral inguinal hernia and with a 1-year follow-up were included. The dependent variables were intra- and postoperative complications, reoperations, recurrence, and chronic pain rates. The results of unadjusted analyses were verified via multivariable analyses. Unadjusted analysis did not reveal any significant differences in the intraoperative complications (1.28 vs 1.33%; p = 0.849); however, there were significant differences in the postoperative complications (3.20 vs 4.03%; p = 0.036), the reoperation rate due to complications (0.84 vs 1.33%; p = 0.023), pain at rest (4.08 vs 6.16%; p < 0.001), pain on exertion (8.03 vs 11.44%; p < 0.001), chronic pain requiring treatment (2.31 vs 3.83%; p < 0.001), and the recurrence rates (0.94 vs 1.45%; p = 0.0023). Multivariable analysis confirmed the significant impact of endoscopic repair of recurrent hernia on the outcome. Comparison of perioperative and 1-year outcome for endoscopic repair of primary versus recurrent male unilateral inguinal hernia showed significant differences to the disadvantage of the recurrent operation. Therefore, endoscopic repair of recurrent inguinal hernias calls for particular competence on the part of the hernia surgeon.

Hernia repair during endoscopic extraperitoneal radical prostatectomy: outcome after 93 cases.

PubMed

Do, Minh; Liatsikos, Evangelos N; Kallidonis, Panagiotis; Wedderburn, Andrew W; Dietel, Anja; Turner, Kevin J; Stolzenburg, Jens-Uwe

2011-04-01

To investigate the outcome of preperitoneal inguinal hernia mesh repairs performed during endoscopic extraperitoneal radical prostatectomy (EERPE). Ninety-three patients underwent inguinal hernia repair during 2125 EERPEs performed between 2002 and 2008. Seventy-seven patients had a unilateral hernia and 16 bilateral inguinal hernias. Patients were treated with EERPE or nerve-sparing EERPE and pelvic lymphadenectomy (if indicated) for localized prostate cancer. The mean age of the patients was 63 years (range 49-75 years). Operative time was 150 minutes (range 85-285 minutes) and estimated mean blood loss was 240 mL (range 30-600 mL). Blood transfusion was never deemed necessary. No conversions to open surgery took place. The mean duration of catheterization was 6.5 days (range 4-25 days). One patient developed a pelvic haematoma, three patients had symptomatic pelvic lymphoceles, and one developed an anastomotic stricture. One patient suffered a rectal injury during the procedure and another developed deep venous thrombosis. The only complication of hernia repair was mild penile bruising and edema. During the follow-up period, we have never observed mesh infection or hernia recurrence. EERPE combined with either a unilateral or bilateral laparoscopic hernia repair appears to be a safe and effective procedure. The incidence of complications related to either EERPE or the hernia repair was not increased. Oncological and functional outcome of EERPE seems not to be influenced by the performance of inguinal hernia repair.

Hiatal hernia

MedlinePlus

... born with it (congenital). It often occurs with gastroesophageal reflux in infants . ... chap 138. Yates RB, Oelschlager BK, Pellegrini CA. Gastroesophageal reflux disease and hiatal hernia. In: Townsend CM Jr, ...

Repair of Postoperative Abdominal Hernia in a Child with Congenital Omphalocele Using Porcine Dermal Matrix

PubMed Central

Mylona, E.; Tsakalidis, C.; Spyridakis, I.; Mitsiakos, G.; Karagianni, P.

2016-01-01

Introduction. Incisional hernias are a common complication appearing after abdominal wall defects reconstruction, with omphalocele and gastroschisis being the most common etiologies in children. Abdominal closure of these defects represents a real challenge for pediatric surgeons with many surgical techniques and various prosthetic materials being used for this purpose. Case Report. We present a case of repair of a postoperative ventral hernia occurring after congenital omphalocele reconstruction in a three-and-a-half-year-old child using an acellular, sterile, porcine dermal mesh. Conclusion. Non-cross-linked acellular porcine dermal matrix is an appropriate mesh used for the reconstruction of abdominal wall defects and their postoperative complications like large ventral hernias with success and preventing their recurrence. PMID:27110247

Repair of Postoperative Abdominal Hernia in a Child with Congenital Omphalocele Using Porcine Dermal Matrix.

PubMed

Lambropoulos, V; Mylona, E; Mouravas, V; Tsakalidis, C; Spyridakis, I; Mitsiakos, G; Karagianni, P

2016-01-01

Introduction. Incisional hernias are a common complication appearing after abdominal wall defects reconstruction, with omphalocele and gastroschisis being the most common etiologies in children. Abdominal closure of these defects represents a real challenge for pediatric surgeons with many surgical techniques and various prosthetic materials being used for this purpose. Case Report. We present a case of repair of a postoperative ventral hernia occurring after congenital omphalocele reconstruction in a three-and-a-half-year-old child using an acellular, sterile, porcine dermal mesh. Conclusion. Non-cross-linked acellular porcine dermal matrix is an appropriate mesh used for the reconstruction of abdominal wall defects and their postoperative complications like large ventral hernias with success and preventing their recurrence.

Diagnosing the occult contralateral inguinal hernia.

PubMed

Koehler, R H

2002-03-01

The incidence of bilateral inguinal hernias reported for total extra peritoneal (TEP) laparoscopic hernia repair, which reaches 45%, appears to be higher than that seen in studies of transabdominal laparoscopic and open repair. Given the unique ability of diagnostic laparoscopy to diagnose occult contralateral hernias (OCH) accurately, this study looked at how concurrent transabdominal diagnostic laparoscopy (TADL) would influence planned TEP repairs. A prospective study oF 100 consecutive TEP cases was conducted. All patients had diagnostic laparoscopy via a 5-mm 45 degrees scope through an umbilical incision with 15 mmHg of pneumoperitoneum, followed by laparoscopic TEPrepair. A contralateral occult hernia was diagnosed and repaired if a true peritoneal eventration through the inguinal region was observed. Among the 100 patients, preoperative diagnosis suggested 31 bilateral hernias (31%), whereas TADL confirmed 25 bilateral hernias (25%). Of these 25 bilateral hernias, TADL confirmed 16 that had been diagnosed preoperatively (64%), but excluded 15 contralateral hernias that were incorrectly diagnosed (37%). Transabdominal diagnostic laparoscopy found nine OCHs, representing 36% of all bilateral hernias and 13% of the 69 preoperatively determined unilateral hernias. The preoperative physician examination false-negative rate for contralateral hernias was 36%, and the false-positive rate was 37%. In 26 cases (26%), TADL changed the operative approach. In this study, patients believed to have unilateral inguinal hernias had OCHs in 13% of cases when examined by TADL. The actual bilateral hernia incidence was 25%, with a 37% false-positive rate for preoperatively diagnosed bilateral hernias. The high rate of bilateral hernias reported by the TEP approach alone suggests that some OCH findings may be an artifact of the TEP dissection. However, failure to search for an OCH could result in up to 13% of patients subsequently requiring a second repair. Because some surgeons are concerned about unnecessary TEP dissection of the asymptomatic contralateral side, the approach described here may offer a solution to accurate diagnosis of the contralateral inguinal region during planned laparoscopic TEP hernia repair.

Left paraduodenal hernia: case report and review of the literature

PubMed Central

Falk, Gavin A; Yurcisin, Basil J; Sell, Harry S

2010-01-01

Paraduodenal hernias are congenital internal hernias that usually present with non-specific symptoms, and are therefore rarely diagnosed preoperatively. Left-sided paraduodenal hernias are three times more likely to occur than right-sided ones. Both hernias present similarly, but have a differing embryological basis. Here, the case of a 76-year-old woman with a left paraduodenal hernia presenting with small bowel obstruction is presented, and a brief discussion of the literature on its diagnosis and management given. PMID:22797200

Congenital hernia of cord: an often misdiagnosed entity

PubMed Central

Raju, Rubin; Satti, Mohamed; Lee, Quoc; Vettraino, Ivana

2015-01-01

Congenital hernia of the cord, also known as umbilical cord hernia, is an often misdiagnosed and under-reported entity, easily confused with a small omphalocele. It is different from postnatally diagnosed umbilical hernias and is believed to arise from persistent physiological mid-gut herniation. Its incidence is estimated to be 1 in 5000. Unlike an omphalocele, it is considered benign and is not linked with chromosomal anomalies. It has been loosely associated with intestinal anomalies, suggesting the need for a complete fetal anatomical ultrasound evaluation. We present a case of a fetal umbilical cord hernia diagnosed in a 28-year-old woman at 21 weeks gestation. The antenatal and intrapartum courses were uncomplicated. It was misdiagnosed postnatally as a small omphalocele, causing unwarranted anxiety in the parents. Increased awareness and knowledge of such an entity among health professionals is important to prevent unwarranted anxiety from misdiagnosis, and inadvertent bowel injury during cord clamping at delivery. PMID:25899514

Robotic-Assisted Simultaneous Repair of Paraesophageal Hernia and Morgagni Hernia: Technical Report.

PubMed

Fu, Shawn S; Carton, Melissa M; Ghaderi, Iman; Galvani, Carlos A

2017-12-13

Morgagni hernias are a rare form of congenital diaphragmatic hernia, accounting for 2%-3% of cases. The presence of a simultaneous Morgagni hernia and paraesophageal hernia (PEH) is even more rare, with only a few reported cases in the surgical literature. Both open and laparoscopic surgical approaches have been previously described. Herein we discuss a robotic-assisted surgical approach to the repair of simultaneous Morgagni hernia and PEH in a 65-year-old woman. Simultaneous repair of Morgagni hernia and PEH is indicated mainly when symptoms are generally indistinctive. The use of robotic technology allowed for both hernias to be repaired both primarily and with mesh reinforcement.

[Where does laparoscopy fit in the treatment of inguinal hernia in 2003?].

PubMed

Gainant, A

2003-06-01

Meta-analysis of randomized studies has clearly shown that prosthetic repair of inguinal hernias decreases the risk of hernia recurrence when compared with herniorraphy without prosthesis; but the optimal route for insertion of the prosthetic patch (laparoscopic versus open inguinal approach) remains in dispute. Meta-analysis of randomized studies comparing laparoscopic with open prosthetic hernia repair suggest that laparoscopy is associated with less post-operative pain (both early and late), a quicker recovery, and earlier return to work. Yet this is at the price of longer operative time and an incidence of rare but potentially severe complications. On the basis of these randomized studies, the ANAES in France and the NICE in England have put forth recommendations which accept the indication for laparoscopic repair in recurrent and bilateral hernias, if done by surgeons experienced in laparoscopic technique. For unilateral hernia in adults, laparoscopic repair has shown no proof of superiority over open prosthetic repair in terms of mortality, morbidity, or recurrence rate. The principal advantage of the laparoscopic approach seems to be improved patient comfort; its disadvantage is higher cost and technical difficulty with a prolonged learning curve. The excess costs of the laparoscopic approach may be compensated by an earlier return to work. At present, the laparoscopic repair of hernias finds its clinical niche in patients with bilateral or recurrent hernias or in patients with unilateral hernia who desire a minimal period of postoperative disability.

Paravertebral block can be an alternative to unilateral spinal anaesthesia for inguinal hernia repair.

PubMed

Mandal, M C; Das, S; Gupta, Sunil; Ghosh, T R; Basu, S R

2011-11-01

Inguinal hernia repair can be performed under satisfactory anaesthetic conditions using general, regional and peripheral nerve block anaesthesia. Unilateral spinal anaesthesia provides optimal anaesthesia, with stable haemodynamics and minimal adverse events. The paravertebral block, being segmental in nature, can be expected to produce some advantages regarding haemodynamic stability and early ambulation and may be a viable alternative. Fifty-four consenting male patients posted for inguinal hernia repair were randomized into two groups, to receive either the two-segment paravertebral block (group-P, n=26) at T10 and L1 or unilateral spinal anaesthesia (group-S, n=28), respectively. The time to ambulation (primary outcome), time to the first analgesic, total rescue analgesic consumption in the first 24-hour period and adverse events were noted. Block performance time and time to reach surgical anaesthesia were significantly higher in the patients of group-P (P<0.001). Time to ambulation was significantly shorter in group-P compared to group-S (P<0.001), while postoperative sensory block was prolonged in patients of group-S; P<0.001. A significantly higher number of patients could bypass the recovery room in group-P compared to group-S, (45% versus 0%, respectively, P<0.001). No statistically significant difference in adverse outcomes was recorded. Both the paravertebral block and unilateral spinal anaesthesia are effective anaesthetic techniques for uncomplicated inguinal hernia repair. However, the paravertebral block can be an attractive alternative as it provides early ambulation and prolonged postoperative analgesia with minimal adverse events.

Anaesthetic Management of Laparoscopic Morgagni Hernia Repair in a Patient with Coexisting Down Syndrome, Patent Foramen Ovale and Pectus Carinatum.

PubMed

Kozanhan, Betül; Başaran, Betül; Aygın, Feride; Akkoyun, İbrahim; Özmen, Sadık

2016-02-01

Laparoscopic repair has several advantages with a minimally invasive surgical option for children with Morgagni hernias; however, a number of physiological sequelae results from pneumoperitoneum and insufflation. These physiological changes may be more significant in patients with a congenital heart disease. Perioperative detailed evaluation, meticulous monitorization and cooperation with a surgical team are important in cases with patent foramen ovale for the possible risk of the paradoxical gas embolism. We present the anaesthetic management of a patient with patent foramen ovale, Down syndrome and pectus carinatus who successfully underwent laparoscopic Morgagni hernia repair. Under a well-managed anaesthesia that prevented complications because of pneumoperitoneum, laparoscopic surgery would be safe enough for patients with Morgagni hernia having an associated congenital heart disease.

Hospital costs associated with laparoscopic and open inguinal herniorrhaphy.

PubMed

Spencer Netto, Fernando; Quereshy, Fayez; Camilotti, Bruna G; Pitzul, Kristen; Kwong, Josephine; Jackson, Timothy; Penner, Todd; Okrainec, Allan

2014-01-01

The purpose of this study was to compare the total hospital costs associated with elective laparoscopic and open inguinal herniorrhaphy. A prospectively maintained database was used to identify patients who underwent elective inguinal herniorrhaphy from April 2009 to March 2011. A retrospective review of electronic patient records was performed along with a standardized case-costing analysis using data from the Ontario Case Costing Initiative. The main outcomes were operating room (OR) and total hospital costs. Two hundred eleven patients underwent elective unilateral inguinal herniorrhaphy (117 open and 94 laparoscopic), and 33 patients underwent elective bilateral inguinal herniorrhaphy (9 open and 24 laparoscopic). OR and total hospital costs for open unilateral inguinal hernia repair were significantly lower than for the laparoscopic approach (median total cost, $3207.15 vs $3723.66; P < .001). OR and total hospital costs for repair of elective bilateral inguinal hernias were similar between the open and laparoscopic approaches (median total cost, $4574.02 vs $4662.89; P = .827). In the setting of a Canadian academic hospital, when considering the repair of an elective unilateral inguinal hernia, the OR and total hospital costs of open surgery were significantly lower than for the laparoscopic techniques. There was no statistical difference between OR and total hospital costs when comparing open surgery and laparoscopic techniques for the repair of bilateral inguinal hernias. Given the perioperative benefits of laparoscopy, further studies incorporating hernia-specific outcomes are necessary to determine the cost-effectiveness of each approach and to define the optimal treatment strategy.

Comparison of Spinal Anaesthesia and Paravertebral Block in Unilateral Inguinal Hernia Repair.

PubMed

Işıl, Canan Tülay; Çınar, Ayşe Surhan Özer; Oba, Sibel; Işıl, Rıza Gürhan

2014-10-01

We aimed to compare the efficacy of spinal anaesthesia (SA) and paravertebral block (PVB) in unilateral inguinal hernia repair. Sixty American Society of Anesthesia physical status (ASA) I-III patients aged between 18-64 years with unilateral inguinal hernia were enrolled in this study. Two patients in Group SA and 4 patients in Group PVB were excluded, and statistical analyses were done on 54 patients. In regard to anaesthetic choice, patients were divided into two groups, with 30 patients in each: Group SA, spinal anaesthesia and Group PVB, paravertebral block. Standard monitoring was done, and mean arterial pressure (MAP) and heart rate (HR) were recorded during the surgical procedure. Demographic variables, surgical data, patient satisfaction, the onset times to reach T10 dermatome and to reach peak sensory level, and onset time to reach modified Bromage 3 motor block were recorded. Postoperative nausea and vomiting and pain at postoperative hours 0-24 with the visual analog scale (VAS) were also measured. Compared to pre-anaesthesia measurements, the decrease in HR and MAP during the 10(th)-90(th) minute period was significant in Group SA (p<0.01). In Group PVB, sensory block duration time was higher, whereas paralysis rate was higher in Group SA (p<0.01). Bromage scores were significantly different between the groups (p<0.01). In Group SA, VAS score at the 24(th) postoperative hour, nausea, and vomiting were significantly higher compared to Group PVB (p<0.01). In conclusion, paravertebral block provides acceptable surgical anaesthesia, maintaining good quality and long duration on postoperative analgesia in unilateral hernia repair.

Congenital Morgagni's hernia: a national multicenter study.

PubMed

Al-Salem, Ahmed H; Zamakhshary, Mohammed; Al Mohaidly, Mohammed; Al-Qahtani, Aayed; Abdulla, Mohamed Ramadan; Naga, Mohamed Ibrahim

2014-04-01

Congenital Morgagni's hernia (CMH) is rare and represents less than 5% of all congenital diaphragmatic hernias. This is a national review of our experience with CMH outlining clinical presentation, methods of diagnosis, associated anomalies, treatment, and outcome. The medical records of all patients with the diagnosis of CMH treated at four pediatric surgery units in Saudi Arabia were retrospectively reviewed for age at diagnosis, sex, presenting symptoms, associated anomalies, diagnosis, operative findings, treatment, and outcome. During a 20-year period (January 1990-December 2010), 53 infants and children with CMH were treated. There were 38 males and 15 females. Their age at diagnosis ranged from 1 month to 9 years (mean 22.2 months). Forty-three (81%) presented with recurrent chest infection. Twenty-two (44.5%) had right CMH, 15 (28.3%) had left-sided hernia and 16 (30.2%) had bilateral hernia. In 7, the diagnosis of bilaterality was made at the time of surgery. Associated anomalies were seen in 38 (71.7%). Twenty-one (39.6%) had congenital heart disease, 8 (15%) had malrotation, and 15 (28.3%) had Down syndrome. All were operated on. Twenty-nine (54.7%) underwent repair via an open approach. The remaining 24 (45.3%) underwent repair using minimal invasive surgery, laparoscopic-assisted hernia repair (19 patients) or totally laparoscopic approach (5 patients). At the time of surgery, the hernia sac content included the colon in 33 (62.3%), part of the left lobe of the liver in 13 (24.5%), the small intestines in 11 (20.75%), the omentum in 5 (9.4%), and the stomach in 4 (7.5%). In 12 (22.6%), the hernia sac was empty. When compared to the open repair, the laparoscopic-assisted approach was associated with a shorter operative time, an earlier commencement of feeds, less requirement for postoperative analgesia, a shorter hospital stay, and better cosmetic appearance. There was no mortality. On follow-up, 2 (7%) of the open surgical group developed recurrence. CMH is rare and in the pediatric age group commonly presents with recurrent chest infection and has a high incidence of associated anomalies, commonly congenital heart disease and Down syndrome. We advocate a laparoscopic-assisted approach to repair CMH. This is a simple technique that produces a sound repair, and when compared with the open approach it takes less operative time, requires less analgesia, allows earlier commencement of feeds, is associated with a shorter hospital stay, and has a better cosmetic outcome. © 2013 Elsevier Inc. All rights reserved.

A systematic review with meta-analysis of the prevalence of gastroesophageal reflux in congenital diaphragmatic hernia pediatric survivors.

PubMed

Arcos-Machancoses, J V; Ruiz Hernández, C; Martin de Carpi, J; Pinillos Pisón, S

2018-02-09

Congenital diaphragmatic hernia survivors are a well-known group at risk for developing gastroesophageal reflux disease that may be particularly long-term severe. The aim of this study is to provide a systematic review of the prevalence of gastroesophageal reflux in infant and children survivors treated for congenital diaphragmatic hernia.Electronic and manual searches were performed with keywords related to congenital diaphragmatic hernia, gastroesophageal reflux disease, and epidemiology terms. Summary estimates of the prevalence were calculated. Effect model was chosen depending on heterogeneity (I2). Factors potentially related with the prevalence, including study quality or the diagnostic strategy followed, were assessed by subgroup and meta-regression analyses. Risk of publication bias was studied by funnel plot analysis and the Egger test.The search yielded 140 articles, 26 of which were included in the analyses and provided 34 estimates of prevalence: 21 in patients aged 12 months or younger, and 13 in older children. The overall prevalence of gastroesophageal reflux disease in infants was 52.7% (95% confidence interval [CI]: 43.2% to 62.1%, I2 = 88.7%) and, in children over 1 year old, 35.1% (95% CI: 25.4% to 45.3%, I2 = 73.5%). Significant clinical and statistical heterogeneity was found. The strategy chosen for gastroesophageal reflux diagnosis influenced the reported prevalence. The only estimate obtained with a systematic use of multichannel intraluminal impedance provided a higher prevalence in both age groups: 83.3% (95% CI: 67.2% to 93.6%) and 61.1% (95% CI: 43.5% to 76.9%) respectively. This last prevalence did not significantly differ from that obtained using only low risk of bias estimates.As a conclusion, gastroesophageal reflux disease is commonly observed after congenital diaphragmatic hernia repair and is almost constantly present in the first months of life. It may be underdiagnosed if systematically esophageal monitoring is not performed. This should be considered when proposing follow-up and management protocols for congenital diaphragmatic hernia survivors. © The Author(s) 2018. Published by Oxford University Press on behalf of International Society for Diseases of the Esophagus. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

[Prenatal diagnosis of a right thoracic congenital ectopic kidney with a diaphragmatic hernia: a combination with a good prognosis].

PubMed

Cessans, C; Pharamin, J; Crouzet, K; Kessler, S; Puget, C; Bouali, O; Galinier, P; Marcoux, M-O

2015-11-01

Ectopic intrathoracic kidney is a rare congenital anomaly, usually asymptomatic. This anomaly is sometimes associated with a diaphragmatic hernia. Few cases of this combination have been described, often in the absence of a prenatal diagnosis. We report on the case of a female newborn infant who was diagnosed with an ectopic intrathoracic right kidney and a diaphragmatic hernia upon 33 weeks of gestation. The patient underwent surgery on the first day of life and the respiratory and renal outcomes were simple. We review the literature and discuss the seemingly good prognosis of this combination. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Cervical lung hernia

PubMed Central

Lightwood, Robin G.; Cleland, W. P.

1974-01-01

Lightwood, R. G., and Cleland, W. P. (1974).Thorax, 29, 349-351. Cervical lung hernia. Lung hernias occur in the cervical position in about one third of cases. The remainder appear through the chest wall. Some lung hernias are congenital, but trauma is the most common cause. The indications for surgery depend upon the severity of symptoms. Repair by direct suture can be used for small tears in Sibson's (costovertebral) fascia while larger defects have been closed using prosthetic materials. Four patients with cervical lung hernia are described together with an account of their operations. PMID:4850946

[A case of strangulated congenital diaphragmatic hernia with necrosis and rupture of the colon and herniation into a left hemithorax in an adult (author's transl)].

PubMed

Sarris, M; Georgoulis, J; Gatos, M; Dariotis, A

This is a case report of a successful repair of congenital diaphragmatic hernia in a 48 years old male that contained the transverse colon which was strangulated and ruptured in the left thoracic cavity. It was approached in two stages. First through a laparotomy the proximal part of the transverse colon was divided. The side going to the hernial sac was sutured and the proximal stump was anastomosed to the descending colon. In a second stage, two days later, through a felt thoracotomy the strangulated and ruptured colon was resected and the distal stump of the transverse colon was sutured and the hernia repaired.

Comparison of Spinal Anaesthesia and Paravertebral Block in Unilateral Inguinal Hernia Repair

PubMed Central

Işıl, Canan Tülay; Çınar, Ayşe Surhan Özer; Oba, Sibel; Işıl, Rıza Gürhan

2014-01-01

Objective We aimed to compare the efficacy of spinal anaesthesia (SA) and paravertebral block (PVB) in unilateral inguinal hernia repair. Methods Sixty American Society of Anesthesia physical status (ASA) I–III patients aged between 18–64 years with unilateral inguinal hernia were enrolled in this study. Two patients in Group SA and 4 patients in Group PVB were excluded, and statistical analyses were done on 54 patients. In regard to anaesthetic choice, patients were divided into two groups, with 30 patients in each: Group SA, spinal anaesthesia and Group PVB, paravertebral block. Standard monitoring was done, and mean arterial pressure (MAP) and heart rate (HR) were recorded during the surgical procedure. Demographic variables, surgical data, patient satisfaction, the onset times to reach T10 dermatome and to reach peak sensory level, and onset time to reach modified Bromage 3 motor block were recorded. Postoperative nausea and vomiting and pain at postoperative hours 0–24 with the visual analog scale (VAS) were also measured. Results Compared to pre-anaesthesia measurements, the decrease in HR and MAP during the 10th–90th minute period was significant in Group SA (p<0.01). In Group PVB, sensory block duration time was higher, whereas paralysis rate was higher in Group SA (p<0.01). Bromage scores were significantly different between the groups (p<0.01). In Group SA, VAS score at the 24th postoperative hour, nausea, and vomiting were significantly higher compared to Group PVB (p<0.01). Conclusion In conclusion, paravertebral block provides acceptable surgical anaesthesia, maintaining good quality and long duration on postoperative analgesia in unilateral hernia repair. PMID:27366432

A meta-analysis of the efficacy of prophylactic alpha-blockade for the prevention of urinary retention following primary unilateral inguinal hernia repair.

PubMed

Clancy, C; Coffey, J C; O'Riordain, M G; Burke, J P

2017-03-14

Urinary retention following inguinal hernia surgery is common and is believed to be associated with adrenergic over-stimulation of the smooth muscle in the bladder neck and prostate. The efficacy of prophylactic alpha-blockade in the prevention of urinary retention following elective inguinal hernia repair in males is unknown. A comprehensive literature search was performed adhering to PRISMA guidelines. Each study was reviewed and data were extracted. Random-effects models were used to combine data. Five randomized studies describing 456 patients were identified. General or spinal anaesthetic were used. Prophylactic alpha-blockade decreases the risk of urinary retention requiring catheterisation following elective unilateral inguinal hernia repair compared to control groups (OR:0.179, 95% CI:0.043-0.747, p:0.018). Rates of urinary retention between treatment and control groups are reduced by 20.6%. No serious complications relating to alpha blockade occurred. Prophylactic alpha-blockade reduces urinary retention following elective inguinal hernia surgery under general or spinal anaesthetic. Urinary retention is common following inguinal hernia surgery. It is believed to be associated with adrenergic over-stimulation of the smooth muscle in the bladder neck and prostate. Prophylactic alpha-blockade reduces the rates of urinary retention by 20.6% in adult males undergoing general or spinal anaesthetic with minimal associated side effects. Copyright © 2017. Published by Elsevier Inc.

Safety and Efficacy of Single Incision Laparoscopic Surgery for Total Extraperitoneal Inguinal Hernia Repair

PubMed Central

2011-01-01

Almost 20 years after the first laparoscopic inguinal hernia repair was performed, single incision laparoscopic surgery (SILS™) is set to revolutionize minimally invasive surgery. However, the loss of triangulation must be overcome before the technique can be popularized. This study reports the first 100 laparoscopic total extraperitoneal hernia repairs using a single incision. The study cohort comprised 68 patients with a mean age of 44 (range, 18 to 83): 36 unilateral and 32 bilateral hernias. Twelve patients also underwent umbilical hernia repair with the Ventralex patch requiring no additional incisions. A 2.5-cm to 3-cm crescentic incision within the confines of the umbilicus was performed. Standard dissecting instruments and 52-cm/5.5-mm/300 laparoscope were used. Operation times were 50 minutes for unilateral and 80 minutes for bilateral. There was one conversion to conventional 3-port laparoscopic repair and none to open surgery. Outpatient surgery was achieved in all (except one). Analgesic requirements were minimal: 8 Dextropropoxyphene tablets (range, 0 to 20). There were no intraoperative or postoperative complications with a high patient satisfaction score. Single-incision laparoscopic hernia repair is safe and efficient simply by modifying dissection techniques (so-called “inline” and “vertical”). Comparable success can be obtained while negating the risks of bowel and vascular injuries from sharp trocars and achieving improved cosmetic results. PMID:21902942

Methodical endoscopic repair of congenital indirect inguinoscrotal hernia in adult male patients with completely patent processus vaginalis.

PubMed

Berney, C R

2017-10-01

Indirect inguinal hernia related to the presence of a patent processus vaginalis (PPV) in adult is estimated to be around 15%. Most surgeons would favor a standard anterior hernioplasty to minimize the potential risk of damaging the spermatic cord structures that are always intimately fused to the congenital peritoneal sac. This also means overlooking the potential benefit of alternative posterior techniques such as endoscopic totally extraperitoneal (TEP) repair that is known to offer faster recovery with reduced risk of developing chronic groin pain. The aim of this study was to evaluate the safety of TEP approach for repair of adult inguinoscrotal hernias associated with completely PPV and to compare those results with a corresponding group of male patients undergoing an identical procedure, but with no demonstrated PPV. This is a prospective study of consecutive male patients diagnosed with inguinal hernia during a 10-year period and eligible for endoscopic TEP repair. Every recognized completely PPV were systematically divided taking care not to damage the attached cord structures and the proximal end closed with a pre-tied Endoloop of PDS. In both groups, all meshes were secured with fibrin sealant only. Patients were reviewed in clinic 2 and 6 weeks after the operation. Further follow-up was scheduled if deemed necessary. The primary post-operative outcome parameter was spermatic cord injury; secondary outcome parameters included groin pain, surgical complications, and recurrence. Nine hundred and thirty-nine hernia repairs were prospectively recorded during this period. All procedures were carried out endoscopically. A total of 41 patients with a median age of 27 years presented with 43 inguinoscrotal hernias (two bilateral) related to the presence of a congenital completely PPV. 72% of them were right-sided. No injury to the cord structures was recorded and only one complication (2.4%) occurred at 1 week post-operatively that was unrelated to the PPV. There was no report of chronic groin or testicular pain, symptomatic seroma formation, or hernia recurrence. By comparison, out of the 608 patients representing the no PPV group, there were 35 complications out of 33 patients (5.4%), one of those requiring subsequent laparoscopic revision. Only one early post-operative recurrence was recorded in this group (0.15%). In the presence of a completely PPV, the recognized benefit of a posterior approach, such as endoscopic TEP inguinal hernia repair, outweighs the theoretical risk of damaging the spermatic cord structures when dissecting and dividing the congenital hernia sac. This technique should be the preferred option among expert laparoscopic surgeons.

Laparoscopic repair of inguinal hernias.

PubMed

Carter, Jonathan; Duh, Quan-Yang

2011-07-01

For patients with recurrent inguinal hernia, or bilateral inguinal hernia, or for women, laparoscopic repair offers significant advantages over open techniques with regard to recurrence risk, pain, and recovery. For unilateral first-time hernias, either laparoscopic or open repair with mesh can offer excellent results. The major drawback of laparoscopy is that the technique requires a significant number of cases to master. For surgeons in group practice, it makes sense to have one surgeon in the group perform laparoscopic repairs so that experience can be concentrated. For others, the best technique remains the approach that the surgeon is most comfortable and experienced performing.

Hernia Sac Presence Portends Better Survivability of Isolated Congenital Diaphragmatic Hernia with "Liver-Up".

PubMed

Grizelj, Ruža; Bojanić, Katarina; Vuković, Jurica; Novak, Milivoj; Weingarten, Toby N; Schroeder, Darrell R; Sprung, Juraj

2017-04-01

Objective  The objective of this study was to investigate the prognostic value of a hernia sac in isolated congenital diaphragmatic hernia (CDH) with intrathoracic liver herniation ("liver-up"). Study Design  A retrospective study from the single tertiary center. Isolated "liver-up" CDH neonates referred to our institution between 2000 and 2015 were reviewed for the presence or absence of a hernia sac. Association between the presence of a hernia sac and survival was assessed. Results  Over the study period, there were 29 isolated CDH patients with "liver-up" who were treated, 7 (24%) had a sac, and 22 (76%) did not. Demographics were similar between groups. However, disease acuity, assessed from lower Apgar scores ( p  = 0.044), lower probability of survival ( p  = 0.037), and lower admission oxygenation ( p  = 0.027), was higher in neonates without a sac. Hospital survival was significantly higher for those with sac compared with those without (7/7, 100 vs. 7/22, 32%, p  = 0.002). Conclusion  The presence of a hernia sac may be associated with better survival for isolated "liver-up" CDH. As the presence of sac can be prenatally detected, it may be a useful marker to aid perinatal decision making. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Robotic-assisted Laparoscopic Repair of Scrotal Inguinal Hernias.

PubMed

Yheulon, Christopher G; Maxwell, Daniel W; Balla, Fadi M; Patel, Ankit D; Lin, Edward; Stetler, Jamil L; Davis, Steven S

2018-06-01

Scrotal inguinal hernias represent a challenging surgical pathology. Although some advanced laparoscopists can repair these hernias through a minimally invasive approach, open repair is considered the technique of choice for most surgeons. The purpose of this study is to show our results of robotic-assisted laparoscopic repair of scrotal inguinal hernias. We reviewed the charts of 14 patients with inguinoscrotal hernias who underwent robotic-assisted transabdominal preperitoneal (TAPP) hernia repair. Mean follow-up was 7 months. The European Registry for Abdominal Wall Hernia Quality of Life score, a 90-point scale, was utilized to quantify patient reported outcomes. Robotic TAPP repair was successful in all 14 patients. Average case duration was 100 minutes (78 to 140 min) for unilateral hernias and 208 minutes (166 to 238 min) for bilateral hernias. Trainees were involved in 93% (13/14) of cases. There were no recurrences. Three patients developed postoperative seromas. The mean European Registry for Abdominal Wall Hernia Quality of Life score was 3.7 (0 to 10). Scrotal hernias can be safely repaired using robotic-assisted TAPP methods with low morbidity and favorable patient reported outcomes.

Evidence supporting laparoscopic hernia repair in children.

PubMed

Jessula, Samuel; Davies, Dafydd A

2018-06-01

Pediatric inguinal hernias are a commonly performed surgical procedure. Currently, they can be approached via open or laparoscopic surgery. We summarize the current evidence for laparoscopic inguinal hernia repairs in children. Laparoscopic and open inguinal hernia repair in children are associated with similar operative times for unilateral hernia, as well as similar cosmesis, complication rates and recurrence rates. Bilateral hernia repair has been shown to be faster through a laparoscopic approach. The laparoscopic approach is associated with decreased pain scores and earlier recovery, although only in the initial postoperative period. Laparoscopy allows for easy evaluation of the patency of contralateral processus vaginalis, although the clinical significance of and need for repair of an identified defect is unclear. Laparoscopic surgery for pediatric inguinal hernias offers some advantages over open repair with most outcomes being equal. It should be considered a safe alternative to open repair to children and their caregivers.

Fascicular Phrenic Nerve Neurotization for Restoring Physiological Motion in a Congenital Diaphragmatic Hernia Reconstruction With a Reverse Innervated Latissimus Dorsi Muscle Flap.

PubMed

Horta, Ricardo; Henriques-Coelho, Tiago; Costa, Joana; Estevão-Costa, José; Monteiro, Diana; Dias, Mariana; Braga, José; Silva, Alvaro; Azevedo, Inês; Amarante, José Manuel

2015-08-01

Congenital diaphragmatic hernia is a severe developmental anomaly characterized by the malformation of the diaphragm. An innervated reversed latissimus dorsi flap reconstruction for recurrent congenital diaphragmatic hernia has been described as an alternative to prosthetic patch repair to achieve pleuroperitoneal separation. However, there is very little supporting scientific data; therefore, there is no real basic understanding of the condition of the phrenic nerve in the absence of diaphragmatic muscle or even the neurotization options for restoring neodiaphragmatic muscle motion. We have reviewed the literature regarding phrenic nerve anatomy and neurotization options, and to our knowledge, this is the first time that the application of a fascicular repair is being described where the continuity of one remaining fascicle of the diaphragm has been preserved close to the phrenic nerve distal division. The procedure was undertaken in a 3 year-old boy, with the diagnosis of congenital large posteromedial diaphragmatic hernia and dependence of mechanical ventilation in consequence of severe bronchopulmonary dysplasia.The phrenic nerve divides itself into several terminal branches, usually three, at the diaphragm level, or just above it. This allows the selective coaptation of separate fascicular branches. In the case described, videofluoroscopy evaluation showed no evidence of paradoxical neodiaphragmatic motion, with synchronous contraction movements and intact pleura-peritoneal separation. The child is now asymptomatic and shows improvement of his previous restrictive pulmonary disease.We believe that fascicular repair can achieve some reinnervation of the flap without jeopardizing the potential of diaphragmatic function by contraction of reminiscent native diaphragm.

Genome-wide association study using deregressed breeding values for cryptorchidism and scrotal/inguinal hernia in two pig lines.

PubMed

Sevillano, Claudia A; Lopes, Marcos S; Harlizius, Barbara; Hanenberg, Egiel H A T; Knol, Egbert F; Bastiaansen, John W M

2015-03-21

Cryptorchidism and scrotal/inguinal hernia are the most frequent congenital defects in pigs. Identification of genomic regions that control these congenital defects is of great interest to breeding programs, both from an animal welfare point of view as well as for economic reasons. The aim of this genome-wide association study (GWAS) was to identify single nucleotide polymorphisms (SNPs) that are strongly associated with these congenital defects. Genotypes were available for 2570 Large White (LW) and 2272 Landrace (LR) pigs. Breeding values were estimated based on 1 359 765 purebred and crossbred male offspring, using a binary trait animal model. Estimated breeding values were deregressed (DEBV) and taken as the response variable in the GWAS. Heritability estimates were equal to 0.26 ± 0.02 for cryptorchidism and to 0.31 ± 0.01 for scrotal/inguinal hernia. Seven and 31 distinct QTL regions were associated with cryptorchidism in the LW and LR datasets, respectively. The top SNP per region explained between 0.96% and 1.10% and between 0.48% and 2.77% of the total variance of cryptorchidism incidence in the LW and LR populations, respectively. Five distinct QTL regions associated with scrotal/inguinal hernia were detected in both LW and LR datasets. The top SNP per region explained between 1.22% and 1.60% and between 1.15% and 1.46% of the total variance of scrotal/inguinal hernia incidence in the LW and LR populations, respectively. For each trait, we identified one overlapping region between the LW and LR datasets, i.e. a region on SSC8 (Sus scrofa chromosome) between 65 and 73 Mb for cryptorchidism and a region on SSC13 between 34 and 37 Mb for scrotal/inguinal hernia. The use of DEBV in combination with a binary trait model was a powerful approach to detect regions associated with difficult traits such as cryptorchidism and scrotal/inguinal hernia that have a low incidence and for which affected animals are generally not available for genotyping. Several novel QTL regions were detected for cryptorchidism and scrotal/inguinal hernia, and for several previously known QTL regions, the confidence interval was narrowed down.

Left Paraduodenal Hernia.

PubMed

Martins, Aires; Gonçalves, Álvaro; Almeida, Teresa; Gomes, Rui; Lomba, João; Midões, Alberto

2018-05-01

Left paraduodenal hernia is an entrapment of the small bowel into the Landzert fossa, an unusual congenital peritoneal defect behind the descending mesocolon that results from failure of part of the descending mesocolon to fuse with the posterior parietal peritoneum (Doishita et al. in Radiographics, 36(1): 88-106, 2016). This fossa is reported to be present in approximately 2% of autopsy bodies. The authors present a case of a left paraduodenal hernia in a young woman.

[Postnatal diagnosis of gastric volvulus revealing congenital diaphragmatic hernia].

PubMed

Aprahamian, A; Nouyrigat, V; Grévent, D; Hervieux, E; Chéron, G

2017-05-01

Postnatally diagnosed congenital diaphragmatic hernias (CDH) are rare and have a better prognosis than those diagnosed prenatally. Postnatal symptoms can be respiratory, digestive, or mixed. Gastric volvulus can reveal CDH. Symptoms are pain, abdominal distension, and/or vomiting. Upper gastrointestinal barium X-ray radiography provides the diagnosis. Prognosis is related to early surgical management in complicated forms with intestinal occlusion or sub-occlusion. We report on an infant who presented with vomiting, which revealed gastric volvulus associated with a CDH. Progression was favorable after surgical treatment. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Follow-up of fetuses with congenital diaphragmatic hernia: The quantitative lung index.

PubMed

Rodó, Carlota; Illescas, Tamara; Arévalo, Silvia; Pérez-Hoyos, Santiago; Carreras, Elena

2018-03-26

To assess the longitudinal behavior of Quantitative Lung Index (QLI) for the follow-up of fetuses with congenital diaphragmatic hernia. Retrospective study of fetuses with isolated left congenital diaphragmatic hernia. The fetuses were assessed by ultrasound at different gestational ages and QLI was retrospectively calculated by means of previous lung-to-head ratio measurements. We used a random effects model (mixed model with repeated measurements) to compare the performance of the QLI in operated and non-operated fetuses throughout pregnancy. Fifty-eight cases of isolated left diaphragmatic hernia with complete follow-up were assessed in Hospital Universitari Vall d'Hebron in Barcelona (2003-2015). Thirty-eight of them were managed expectantly (non-TO) and the other 20 underwent tracheal occlusion (TO). All fetuses undergoing tracheal occlusion had lung-to-head ratio (LHR) <1, observed-to-expected LHR (o/eLHR) ≤45%, QLI <0.6 and liver up inside the thorax. The survival rate was 87% for the non-TO group and 60% for the TO group (p = 0.02). The QLI remained constant throughout pregnancy in both groups. The QLI in the TO group had lower values than the non-TO group (p < 0.03). The quantitative lung index was constant during pregnancy. This index was lower in fetuses undergoing tracheal occlusion but no significant changes were seen in its performance during pregnancy. Copyright © 2018 Elsevier B.V. All rights reserved.

Successful Repair of Hypoplastic Left Heart Syndrome With Intact Atrial Septum, Congenital Diaphragm Hernia, and Anomalous Origin of Coronary Artery: Defying the Odds.

PubMed

Sathanandam, Shyam; Kumar, T K Susheel; Feliz, Alexander; Knott-Craig, Christopher J

2016-07-01

We report a case of an infant who was postnatally diagnosed with hypoplastic left heart syndrome and an intact atrial septum who underwent emergent atrial decompression followed by the Norwood operation. She was also found to have a congenital diaphragmatic hernia on the left side and a congenital eventration of the right diaphragm, both requiring surgical repair. She was later found to have an anomalous origin of the left circumflex coronary artery from the right pulmonary artery that was ligated at the time of the bilateral bidirectional Glenn operation. She is currently thriving at home, defying all odds. Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Associated morbidities to congenital diaphragmatic hernia and a relationship to human milk.

PubMed

Froh, Elizabeth B; Spatz, Diane L

2012-08-01

The majority of what is known in the recent literature regarding human milk studies in the neonatal intensive care setting is specific to term and/or preterm infants (including very-low-birth-weight preterm infants). However, there is a lack of human milk and breastfeeding literature concerning infants with congenital anomalies, specifically infants diagnosed with congenital diaphragmatic hernia (CDH). By applying human milk research conducted among other populations of infants, this article highlights how human milk may have a significant impact on infants with CDH. Recent human milk studies are reviewed and then applied to the CDH population in regard to respiratory and gastrointestinal morbidities, as well as infection and length of stay. In addition, clinical implications of these relationships are discussed and suggestions for future research are presented.

The etiology of indirect inguinal hernia in adults: congenital or acquired?

PubMed

Jiang, Z P; Yang, B; Wen, L Q; Zhang, Y C; Lai, D M; Li, Y R; Chen, S

2015-10-01

During hernioplasty focal thickened tissue containing smooth muscle is found at the neck of the hernia sac in most patients with indirect inguinal hernia. These thickenings may be related to the processus vaginalis and reveal the etiology of indirect inguinal hernia. The study included 50 male adults with indirect inguinal hernia and 50 male adults with direct inguinal hernia, all of them were initial cases. Hernioplasty and excision of the hernia sac were performed, meanwhile anatomical features of the hernia sac and the spermatic cord were recorded, then followed by histological investigation of the hernia sacs. Focal thickenings were observed at the neck of the hernia sac in 88 % of adults with indirect inguinal hernia. Dense adhesion between the hernia sac and the spermatic cord was found where the thickening located. Histological examination identified smooth muscle cells in 57 % of the thickened tissues. No similar findings were observed in patients with direct inguinal hernia. The focal thickening which contains smooth muscle tissue may be remnant of the processus vaginalis after its obliteration. In other word, the presence of the thickening means that fusion of the processus vaginalis has previously taken place. Thus, most indirect inguinal hernias in adults may represent acquired diseases.

Laparoscopic inguinal hernia repair in the Armed Forces: A 5-year single centre study.

PubMed

Jakhmola, C K; Kumar, Ameet

2015-10-01

Surgery for inguinal hernia continues to evolve. The most recent development in the field of surgery for inguinal hernia is the emergence of laparoscopic inguinal hernia surgery (LIHS) which is challenging the gold standard Lichtenstein's tension free mesh repair. Our centre has the largest series of LIHS from any Armed Forces hospital. The aim of this study was to analyze the short and long term outcomes at our center since its inception. Retrospective review of prospectively maintained data base of 501 LIHS done in 434 patients by a single surgeon between April 2008 and October 2013. Preoperative, intraoperative, postoperative and follow-up data was analyzed with emphasis on the recurrence rates and the incidence of inguinodynia. 402 (92.6%) patients had primary hernias and 367 (84.6%) patients had unilateral hernias. Of the 501 repairs, 453 (90.4 %) were done totally extraperitoneal approach and 48 (9.6 %) were done by the transabdominal preperitoneal approach. The mean operative time for unilateral and bilateral repairs was 40.9 ± 11.2 and 76.2 ± 15.0 minutes, respectively. The conversion rate to open surgery was 0.6%. The intraoperative, and early and late postoperative complication rates were 1.7%, 6.2% and 3%, respectively. The incidence of chronic groin pain was 0.7% and the recurrence rate was 1.6%. The median hospital stay was 1 day (1-5 days). We, in this series of over 500 repairs have demonstrated that feasibility as well as safety of LIHS at our centre with good short and long term outcomes.

Surgical outcome of laparoscopic and open surgery of pediatric inguinal hernia.

PubMed

Saha, N; Biswas, I; Rahman, M A; Islam, M K

2013-04-01

Inguinal hernia repair is one of the most frequently performed surgical procedures in infants and young children. This prospective comparative study was conducted with initial experience in the department of pediatric surgery, Dhaka Shishu (children) hospital during the period of July 2007 to August 2008. We enrolled 62 children undergoing surgery for inguinal hernia, of which 30 underwent laparoscopic procedure (bilateral in 21, unilateral 9) and 32 open procedures (bilateral in 5, unilateral in 27). Mean±SD patient age was 5.92±2.11 months in laparoscopic group and 6.63±2.64 months in open group (p=0.264), 3 months to 5 years in both groups. Patients were studied under variables of operative time, duration of postoperative hospital stay & post operative complications. During laparoscopy a contralateral patent processus vaginalis of ≥2cm was noted and repaired peroperatively in 18 out of 27 children (66%), who were initially diagnosed as unilateral hernia. For unilateral repair mean±SD operative time was significantly longer in Group A (62.63±52.75) minutes compares to the Group B (29.37±9.40), p<0.001. On the contrary, for bilateral repair Mean±SD operative time was comparable between the two groups (64.65±49.70) minutes for laparoscopy & (35.65±11.53 minutes) for open herniotomy & P=0.01, that was not remarkably significant. The mean±SD post operative length of hospital stay (in hours) 36.00±32.7 hours in Group A compared to 29.97±11.82 hours in Group B which was not statically significant (p=0.342). The mean±SD follow up was 24.5±10.5 months in laparoscopic group (Group A) & 22.5±10.5 months in open group (Group B), p=0.251. Regarding post operative complication, in this study, contra lateral metachronous inguinal hernia (CMIH) manifested in none of the patient out of 27 (total unilateral repaired number) patients in laparoscopic group but contrary to this in open group 2 patients out of 27 had developed CMIH & p value was <0.05, which is statistically significant. There were 2 cases of scrotal hydrocele out of 30, observed in Group A whereas 1 case out of 32 in Group B, p=0.49, which was statistically insignificant. The scrotal hydrocele was lasted only for 2 days & resolved spontaneously. About recurrence after operation, our study noted that, 1 case (3.3%) out of 30 in laparoscopic group and 2 cases (6%) out of 32 in open surgery group had developed recurrent inguinal hernia in about one year follow up where p value was 0.459, & it was statistically insignificant. In this study, none of the patient had developed post operative testicular atrophy (due to any vas or vascular injury) or testicular ascend. So, overall this study result implies that, Laparoscopic herniotomy might be a safe and effective option as open herniotomy for the treatment of inguinal hernia in children but which one would be superior or best option it requires a large series of randomized trial.

Heliox Adjunct Therapy for Neonates With Congenital Diaphragmatic Hernia.

PubMed

Wise, Audra C; Boutin, Mallory A; Knodel, Ellen M; Proudfoot, James A; Lane, Brian P; Evans, Marva L; Suttner, Denise M; Kimball, Amy L

2018-05-22

Congenital diaphragmatic hernia remains a complex disease with significant morbidity and mortality. Hypercarbia is a common derangement in this population, which often requires escalating ventilator support. By decreasing airway turbulence and enhancing CO 2 removal, inhaled helium-oxygen mixture (heliox) has the potential to improve ventilation and thereby decrease ventilator support and its associated lung injury. Retrospective cohort review of all neonates with congenital diaphragmatic hernia treated at Rady Children's Hospital San Diego during 2011-2015. Clinical characteristics were compared between the infants who were treated with heliox and those who did not receive this intervention. To analyze the effect of heliox in the subgroup that received this treatment, ventilator settings and arterial blood gas values were compared before and after starting heliox by using paired t tests. During the study period, 45 neonates with congenital diaphragmatic hernia were admitted to our neonatal ICU, 28 received heliox, and 27 were analyzed. During heliox treatment, Pa CO 2 levels decreased from 68 to 49 mm Hg ( P < .001), amplitude decreased from 33 to 23 cm H 2 O ( P < .001), ventilator frequency decreased from 28 to 23 breaths/min ( P = .02), F IO 2 decreased from 0.52 to 0.40 ( P < .01), and pH increased from 7.3 to 7.4 ( P < .001). The addition of heliox to the standard practice of permissive hypercapnia facilitated improvement in gas exchange, which allowed a decrease in ventilator settings and oxygen exposure, both of which are known to contribute to lung injury in this population. A prospective trial is needed to more clearly define the acute and long-term impacts of this treatment. Copyright © 2018 by Daedalus Enterprises.

Comparison of Single-Port Percutaneous Extraperitoneal Repair and Three-Port Mini-Laparoscopic Repair for Pediatric Inguinal Hernia.

PubMed

Korkmaz, Mevlit; Güvenç, B Haluk

2018-03-01

Laparoscopy has been widely used in surgical practice in pediatric age, and many techniques for laparoscopic hernia repair have been described till now. In this study, we compared two laparoscopic techniques performed by two surgeons; each surgeon practicing only one of the two techniques. A retrospective analysis was performed on the surgical charts, enrolling 71 patients with uncomplicated inguinal hernia. Patients were divided into two groups according to the type of surgery: (Group A, 24 patients aged 2 months-8 years) laparoscopic percutaneous internal ring suturing technique and (Group B, 47 patients aged 35 days-12 years) three-port mini-laparoscopic technique. The hernia sac was ligated at the level of internal ring, using nonabsorbable 4/0-3/0 suture. Any unexpected contralateral opening was repaired in the same manner for both groups. Follow-up period was 4 months-2 years and 9 months-8 years, respectively. Operative time and complications were analyzed. Operation time (19.58 ± 7.06 minutes versus 35.87 ± 10.34 minutes, P < .001) was shorter in the percutaneous repair group. However, when subdivided by unilateral and bilateral presentation, only unilateral operative time was shorter compared to three-port group. There were no recurrences in Group A, while two recurrences occurred in Group B during the learning curve period. A contralateral opening accompanied the presenting unilateral hernia in 3 cases for Group A and 16 for Group B. One patient had to be converted open resulting from epigastric vessel injury, and postop hydrocele formation was seen in another in Group A. No intraoperative complications were seen in Group B. The overall experience shows that laparoscopic repair is a reliable approach regardless of the chosen technique. Percutaneous repair seems to be a less invasive method with shorter operative time, but it is not free of complications according to this series.

Groin defects seen at extra-peritoneal laparoscopic dissection during surgical treatment of athletic pubalgia.

PubMed

Wikiel, Krzysztof J; Eid, George M

2015-07-01

Recently new disease process, often referred to as athletic pubalgia (AP), has been acknowledged by the medical community. The patients suffering from this ailment present with unilateral or bilateral chronic groin pain associated with physical activity without a clear diagnosis of a groin hernia. Though physical therapy and medical treatments are considered first line remedies, some believe that surgical treatment may have better, quicker, and more durable outcomes and procedures aimed at groin reinforcement seem to relieve most of symptoms in the majority of the patients. Despite many surgeons consistently noting rectus insertion or adductor thinning, multiple hernia defects are often seen during dissections and the clinical significance of these findings is still not known. Between 2007 and 2011, 40 patients underwent an extra-peritoneal laparoscopic reinforcement of rectus abdominals and insertion of adductor muscles for AP. All patients underwent wide and bilateral groin dissection and the findings were cataloged. All of the patients presented with groin defects upon wide dissection. Thirty-four patients (85%) presented with small bilateral indirect inguinal defects and 28 (70%) of these patients did not have any additional defects. Five patients (12.5%) were found to have only unilateral inguinal hernia defects. One patient presented with a small direct defect. In addition to these defects, five patients (12.5%) had additional unilateral femoral hernias, whereas no patient had solitary femoral hernia defects. AP is a new diagnostic entity with poorly understood etiology. It mostly affects young active adults, often involved in competitive sports and surgical methods may be most effective at achieving the cure. In our experience all of the patients presented with groin defects, though not all were the same. It is our belief that these defects, although likely not the only component, play a significant role in the pathophysiology of AP.

Vascular diaphragmatic hernia in a patient with cirrhosis first case report.

PubMed

Lazăr, Mihai I; Ion, Daniela Adriana If

2012-06-14

We report the case of an adult patient recently diagnosed with cirrhosis. The ultrasound evaluation described a multinodular inhomogeneous liver, requiring a magnetic resonance imaging scan for further characterization. The performed magnetic resonance imaging examination confirmed the diagnosis of cirrhosis associated with portal hypertension and detected a vascular left transdiaphragmatic hernia. Although various types of diaphragmatic hernias have been described - congenital or acquired - to the best of our knowledge, this type of pathology has never been reported.

Magnetic resonance and computed tomographic features of 4 cases of canine congenital thoracic vertebral anomalies

PubMed Central

Berlanda, Michele; Zotti, Alessandro; Brandazza, Giada; Poser, Helen; Calò, Pietro; Bernardini, Marco

2011-01-01

Magnetic resonance and computed tomography features of 4 cases of canine congenital vertebral anomalies (CVAs) are discussed. Two of the cases represent unusual presentations for such anomalies that commonly affect screw-tail or toy breeds. Moreover, the combination of CVAs and a congenital peritoneo-pericardial diaphragmatic hernia has never before been imaged. PMID:22654139

Hemivertebra resection with posterior unilateral intervertebral fusion and transpedicular fixation for congenital scoliosis: results with at least 3 years of follow-up.

PubMed

Feng, Yi; Hai, Yong; Zhao, Sheng; Zang, Lei

2016-10-01

The main treatment for congenital scoliosis is posterior hemivertebra resection with bilateral transpedicular fixation. Reports describing posterior unilateral intervertebral fusion and transpedicular screw fixation are rare, with no long-term follow-up results, especially in older children. Retrospective analysis of the long-term outcomes of unilateral fusion and fixation after hemivertebra resection for congenital scoliosis. From April 2004 to May 2012, 19 consecutive cases (12 males; age range 2.3-13.4 years) of congenital scoliosis treated by hemivertebra resection with posterior unilateral or bilateral exposure and unilateral intervertebral fusion with transpedicular screw instrumentation alone were investigated retrospectively. All cases were followed-up for at least 3 years. The mean Cobb angle of the segmental scoliosis was improved from 34.8 to 13.4° (correction rate 61.5 %). The mean Cobb angle of the segmental kyphosis was improved from 23.5 to 5.8° (correction rate 75.3 %). The mean correction rates of compensatory cranial and caudal curves were 46.1 and 54.5 %, respectively. 11 patients (57.8 %) exhibited continuous segmental curve improvement during the follow-up. One pedicle fracture and one instrumentation failure were recorded. Unilateral transpedicular screw fixation provides satisfactory correction of the spinal deformity in both very young and older children. Unilateral intervertebral fusion and transpedicular fixation represents an advisable alternative method for the correction of congenital scoliosis and has advantages of reduced trauma, less surgery time and lower expense. Furthermore, the non-fused concave side offers the opportunity for correction of subsequent spine deformity.

Variation of laparoscopic hernia repair in Scotland: a postcode lottery?

PubMed

Stevenson, A D; Nixon, S J; Paterson-Brown, S

2010-06-01

The laparoscopic approach is now recommended by NICE as the preferred technique for repair of bilateral and recurrent inguinal hernia and an accepted option for unilateral hernia. This study was set up to examine whether patients across Scotland had equal access to this method of treatment. Information was collected on laparoscopic hernia repairs in adults at all acute general NHS hospitals in Scotland between the financial years 1997/8 and 2007/8. Private hospitals were excluded due to lack of data. The data were derived from SMR01 data of inpatient and daycase discharges from non-paediatric general acute NHS hospitals in Scotland as collected by the Information Services Division (ISD) of NHS National Services Scotland. Of 6821 repairs in 2007/8, only 890 (13.0%) were performed laparoscopically, a small increase from 294 (4.5%) in 1997/8. The highest incidence of laparoscopic hernia repair in 2007/8 was in NHS Lothian, where 435 (41.1%) of all repairs were performed using the laparoscopic technique. Excluding NHS Lothian, the number of laparoscopic hernia repairs in the rest of Scotland showed a much smaller rise, from 184 (3.3%) to 455 (7.9%). NHS Lothian, (which has 20% of the Scottish population) performed 54.5% of laparoscopic repairs in Scotland between 1997/8 and 2007/8. In the most recent year available, 2007/8, 63.1% of bilateral primary, 53.7% of bilateral recurrent and 26.8% of unilateral recurrent hernia operations in Lothian were laparoscopic. This compares to only 9.9%, 7.0% and 7.1%, respectively, for other Scottish hospitals. Despite the fact that laparoscopic hernia repair has several proven advantages over open techniques, particularly in bilateral and recurrent hernias, activity remains at a low level in Scotland with the exception of NHS Lothian. In Scotland, laparoscopic techniques are not being used as recommended by NICE guidelines and there appears to be a "postcode lottery" in the provision of this method of treatment. Possible reasons are discussed and action plans are suggested. Copyright (c) 2009 Royal College of Surgeons of Edinburgh (Scottish charity number SC005317) and Royal College of Surgeons in Ireland. Published by Elsevier Ltd. All rights reserved.

A case of splenic rupture within an umbilical hernia with loss of domain.

PubMed

Fernando, Emil J; Guerron, Alfredo D; Rosen, Michael J

2015-04-01

Massive ventral hernia with loss of abdominal domain is a particularly complex disease. We present a case of a massive umbilical hernia with loss of abdominal domain containing the small bowel, colon, and spleen that presented with spontaneous splenic rupture. The patient was an 82-year-old Caucasian female with multiple comorbidities, on anti-coagulation for cardiac dysrhythmia with a congenital umbilical hernia with loss of abdominal domain which had progressed over multiple years. She presented to an outside hospital with history of a left-sided abdominal pain accompanying fatigue and weakness.A CT scan of the abdomen revealed an umbilical hernia with loss of abdominal domain containing the patient's entire small bowel, colon, pancreas, and the spleen. The spleen had ruptured with associated hemorrhage and hematoma in the hernia sac.Management included a multidisciplinary approach with particular attention to comorbidities and hemodynamic monitoring due to splenic rupture. Given the need for lifetime anticoagulation, a splenectomy was planned along with simultaneous abdominal wall reconstruction. The patient underwent an exploratory laparotomy, splenectomy, bilateral posterior component separation with transversus abdominis release, and a retrorectus/preperitoneal placement of heavy weight polypropylene mesh.During the postoperative period, the patient remained intubated initially due to elevated airway pressures before transferring to the regular nursing floor. The remainder of the patient's hospital stay was complicated by a postoperative ileus requiring nasogastric tube decompression and a DVT and PE necessitating anticoagulation. The ileus eventually resolved and diet was slowly advanced. The patient was discharged on POD17. To our knowledge, this is the first report in the literature describing a splenic rupture that occurred within the hernia sac of a congenital umbilical hernia. This report serves to highlight that even with novel cases of massive and atypical hernias, posterior component separation with transversus abdominis release is a reproducible repair that can be performed with good result in a variety of circumstances.

Laparoscopic inguinal hernia repair in the Armed Forces: A 5-year single centre study

PubMed Central

Jakhmola, C.K.; Kumar, Ameet

2015-01-01

Background Surgery for inguinal hernia continues to evolve. The most recent development in the field of surgery for inguinal hernia is the emergence of laparoscopic inguinal hernia surgery (LIHS) which is challenging the gold standard Lichtenstein's tension free mesh repair. Our centre has the largest series of LIHS from any Armed Forces hospital. The aim of this study was to analyze the short and long term outcomes at our center since its inception. Methods Retrospective review of prospectively maintained data base of 501 LIHS done in 434 patients by a single surgeon between April 2008 and October 2013. Preoperative, intraoperative, postoperative and follow-up data was analyzed with emphasis on the recurrence rates and the incidence of inguinodynia. Results 402 (92.6%) patients had primary hernias and 367 (84.6%) patients had unilateral hernias. Of the 501 repairs, 453 (90.4 %) were done totally extraperitoneal approach and 48 (9.6 %) were done by the transabdominal preperitoneal approach. The mean operative time for unilateral and bilateral repairs was 40.9 ± 11.2 and 76.2 ± 15.0 minutes, respectively. The conversion rate to open surgery was 0.6%. The intraoperative, and early and late postoperative complication rates were 1.7%, 6.2% and 3%, respectively. The incidence of chronic groin pain was 0.7% and the recurrence rate was 1.6%. The median hospital stay was 1 day (1–5 days). Conclusion We, in this series of over 500 repairs have demonstrated that feasibility as well as safety of LIHS at our centre with good short and long term outcomes. PMID:26663957

Segmental liver incarceration through a recurrent incisional lumbar hernia.

PubMed

Salemis, Nikolaos S; Nisotakis, Konstantinos; Gourgiotis, Stavros; Tsohataridis, Efstathios

2007-08-01

Lumbar hernia is a rare congenital or acquired defect of the posterior abdominal wall. The acquired type is more common and occurs mainly as an incisional defect after flank surgery. Incarceration or strangulation of hernia contents is uncommon. Segmental liver incarceration through a recurrent incisional lumbar defect was diagnosed in a 58 years old woman by magnetic resonance imaging. The patient underwent an open repair of the complicated hernia. An expanded polytetraflouoroethylene (e-PTFE) mesh was fashioned as a sublay prosthesis. She had an uncomplicated postoperative course. Follow-up examinations revealed no evidence of recurrence. Although lumbar hernia rarely results in incarceration or strangulation, early repair is necessary because of the risks of complications and the increasing difficulty in repairment as it enlarges. Surgical repair is often difficult and challenging.

Wandering Spleen and Organoaxial Gastric Volvulus after Morgagni Hernia Repair: A Case Report and Review of the Literature

PubMed Central

Gulia, Caterina; Miele, Vittorio; Trinci, Margherita; Briganti, Vito

2016-01-01

Wandering spleen and gastric volvulus are two rare entities that have been described in association with congenital diaphragmatic hernia. The diagnosis is difficult and any delay can result in ischemia and necrosis of both organs. We present a case of a 13-year-old girl, previously operated on for anterior diaphragmatic hernia and intrathoracic gastric volvulus, that presented to our service for a subdiaphragmatic gastric volvulus recurrence associated with a wandering spleen. In this report we reviewed the literature, analyzing the clinical presentation, diagnostic assessment, and treatment options of both conditions, in particular in the case associated with diaphragmatic hernia. PMID:27703832

Robotic Inguinal Hernia Repair: Technique and Early Experience.

PubMed

Arcerito, Massimo; Changchien, Eric; Bernal, Oscar; Konkoly-Thege, Adam; Moon, John

2016-10-01

Laparoscopic inguinal hernia repair has been shown to have multiple advantages compared with open repair such as less postoperative pain and earlier resume of daily activities with a comparable recurrence rate. We speculate robotic inguinal hernia repair may yield equivalent benefits, while providing the surgeon added dexterity. One hundred consecutive robotic inguinal hernia repairs with mesh were performed with a mean age of 56 years (25-96). Fifty-six unilateral hernias and 22 bilateral hernias were repaired amongst 62 males and 16 females. Polypropylene mesh was used for reconstruction. All but, two patients were completed robotically. Mean operative time was 52 minutes per hernia repair (45-67). Five patients were admitted overnight based on their advanced age. Regular diet was resumed immediately. Postoperative pain was minimal and regular activity was achieved after an average of four days. One patient recurred after three months in our earlier experience and he was repaired robotically. Mean follow-up time was 12 months. These data, compared with laparoscopic approach, suggest similar recurrence rates and postoperative pain. We believe comparative studies with laparoscopic approach need to be performed to assess the role robotic surgery has in the treatment of inguinal hernia repair.

Extracorporeal Membrane Oxygenation in Premature Infants With Congenital Diaphragmatic Hernia.

PubMed

Cuevas Guamán, Milenka; Akinkuotu, Adesola C; Cruz, Stephanie M; Griffiths, Pamela A; Welty, Stephen E; Lee, Timothy C; Olutoye, Oluyinka O

2017-11-14

Prematurity and low birth weight have been exclusion criteria for extracorporeal membrane oxygenation (ECMO); however, these criteria are not evidence based. With advances in anticoagulation, improved technology, and surgical expertise, it is difficult to deny a potential therapy based on these criteria alone. We report the outcome of three neonates who were ineligible based on traditional criteria but were offered ECMO as a life-saving measure. We highlight the interdisciplinary nature of modern decision-making. All three neonates had severe congenital diaphragmatic hernia diagnosed prenatally, had normal fetal karyotypes, were born prematurely, and weighed less than 2 kg. All three neonates underwent cervical venoarterial cannulation, stabilization on ECMO, and repair of their congenital diaphragmatic hernia early in their ECMO courses. All three infants had long courses of respiratory support attributable to lung hypoplasia, but there were no short- or long-term complications attributable to ECMO support directly. All three are alive at 2 years of age and were making progress developmentally. In conclusion, with interdisciplinary collaboration and clinical guidelines uniformly implemented, low birth weight infants may benefit from ECMO and should not be denied the therapy arbitrarily based on gestational age or size alone. Further research is essential to determine appropriate patient selection in premature infants.

A comparative study on trans-umbilical single-port laparoscopic approach versus conventional repair for incarcerated inguinal hernia in children

PubMed Central

Jun, Zhang; Juntao, Ge; Shuli, Liu; Li, Long

2016-01-01

PURPOSE: The purpose of this study is to determine whether singleport laparoscopic repair (SLR) for incarcerated inguinal hernia in children is superior toconventional repair (CR) approaches. METHOD: Between March 2013 and September 2013, 126 infants and children treatedwere retrospectively reviewed. All the patients were divided into three groups. Group A (48 patients) underwent trans-umbilical SLR, group B (36 patients) was subjected to trans-umbilical conventional two-port laparoscopic repair (TLR) while the conventional open surgery repair (COR) was performed in group C (42 patients). Data regarding the operating time, bleeding volume, post-operative hydrocele formation, testicular atrophy, cosmetic results, recurrence rate, and duration of hospital stay of the patients were collected. RESULT: All the cases were completed successfully without conversion. The mean operative time for group A was 15 ± 3.9 min and 24 ± 7.2 min for unilateral hernia and bilateral hernia respectively, whereas for group B, it was 13 ± 6.7 min and 23 ± 9.2 min. The mean duration of surgery in group C was 35 ± 5.2 min for unilateral hernia. The recurrence rate was 0% in all the three groups. There were statistically significant differences in theoperating time, bleeding volume, post-operative hydrocele formation, cosmetic results and duration hospital stay between the three groups (P < 0.001). No statistically significant differences between SLR and TLR were observed except the more cosmetic result in SLR. CONCLUSION: SLR is safe and effective, minimally invasive, and is a new technology worth promoting. PMID:27073306

A comparative study on trans-umbilical single-port laparoscopic approach versus conventional repair for incarcerated inguinal hernia in children.

PubMed

Jun, Zhang; Juntao, Ge; Shuli, Liu; Li, Long

2016-01-01

The purpose of this study is to determine whether singleport laparoscopic repair (SLR) for incarcerated inguinal hernia in children is superior toconventional repair (CR) approaches. Between March 2013 and September 2013, 126 infants and children treatedwere retrospectively reviewed. All the patients were divided into three groups. Group A (48 patients) underwent trans-umbilical SLR, group B (36 patients) was subjected to trans-umbilical conventional two-port laparoscopic repair (TLR) while the conventional open surgery repair (COR) was performed in group C (42 patients). Data regarding the operating time, bleeding volume, post-operative hydrocele formation, testicular atrophy, cosmetic results, recurrence rate, and duration of hospital stay of the patients were collected. All the cases were completed successfully without conversion. The mean operative time for group A was 15 ± 3.9 min and 24 ± 7.2 min for unilateral hernia and bilateral hernia respectively, whereas for group B, it was 13 ± 6.7 min and 23 ± 9.2 min. The mean duration of surgery in group C was 35 ± 5.2 min for unilateral hernia. The recurrence rate was 0% in all the three groups. There were statistically significant differences in theoperating time, bleeding volume, post-operative hydrocele formation, cosmetic results and duration hospital stay between the three groups (P < 0.001). No statistically significant differences between SLR and TLR were observed except the more cosmetic result in SLR. SLR is safe and effective, minimally invasive, and is a new technology worth promoting.

Long-term results of a non-ramdomized prospective mono-centre study of 1000 laparoscopic totally extraperitoneal hernia repairs.

PubMed

Thill, V; Simoens, C; Smets, D; Ngongang, C; da Costa, P Mendes

2008-01-01

Information concerning short-term results for laparoscopic extraperitoneal hernia repair is available, but long-term results remain poorly documented. The purpose of this non-randomized prospective study was to evaluate recurrence and chronic pain after hernia repair over a period longer than 10 years. From 1995 to 2004, all patients aged 30 years or more, manifesting with inguinal hernia, were included in our study. Patients aged 20 to 30 years presenting with bilateral hernia, recurrent hernia, or who were heavy workers were also included. Patients who had pelvic irradiation, strangulated hernia, prostatic cancer resection, or a contra-indication to general anaesthesia were excluded. Of 1096 hernia repairs performed, 248 patients were excluded and underwent open repair and 848 patients (77.4%) were included in our prospective study, which corresponded to 1000 laparoscopic hernia repairs. The sex ratio (male : female) was 5:8, and the average age was 56 years. Seven hundred and fifty-three hernias (75.3%) were first repairs, 247 (24.7%) were recurrent hernias, and 161 were bilateral hernias. There were no mortalities. The conversion rate was 1.1%, and the global postoperative morbidity rate was 10.3%. Average follow-up was 39 months in 92.2% of the patients. Hernia recurrence rate was 1.5%. Chronic pain occurred in 2.9%. During this follow-up, 22 contra-lateral hernias appeared in those patients who initially had unilateral hernia repair (3.2%). All of these contra-lateral hernias could be successfully treated using a laparoscopic total extraperitoneal approach. The long-term results of this study demonstrate that preperitoneal laparoscopic hernia repair is a safe technique with a very low recurrence rate and low prevalence of chronic pain.

A modern era comparison of right versus left sided congenital diaphragmatic hernia outcomes.

PubMed

Collin, Michael; Trinder, Sarah; Minutillo, Corrado; Rao, Shripada; Dickinson, Jan; Samnakay, Naeem

2016-09-01

This study aims to retrospectively review outcomes, including neurodevelopmental outcomes, of neonatal right sided congenital diaphragmatic hernias (RCDH) compared with left sided congenital diaphragmatic hernias (L-CDH) treated surgically at our institute. A retrospective review was undertaken of all cases of congenital diaphragmatic hernia (CDH) treated at Princess Margaret Hospital for Children (PMH), Perth, born between 1st January 2002 and 1st August 2012. The outcomes of R-CDH cases were compared with L-CDH cases. We examined duration of ventilatory support, use of patch versus primary closure, the CDH recurrence rates, the number of reoperations and neurodevelopmental follow-up at one year of age. Forty-nine cases of CDH were operated on at PMH during the 10-year period. Of these, ten cases were R-CDH with 39 L-CDH cases. Of 49 cases, 34 were diagnosed antenatally, 5 R-CDH versus 29 L-CDH. Only 8/39 cases of L-CDH required patch repair for larger defects, while 5/10 R-CDH required patch repair. Postoperative mortality was 6/49 (1/10 right sided versus 5/39 left sided). Recurrence was observed in 5/10 R-CDH versus 6/39 L-CDH with p=0.03. Thirty-three of 43 surviving patients received one-year follow-up with Griffiths general quotient (GQ) assessment demonstrating a median score of 98 for L-CDH (IQR 86 to 104.25) and 91 for R-CDH (IQR 76.5 to 93). R-CDH required patch repair more commonly than L-CDH because of larger defect size or complete agenesis. The rate of recurrent herniation was the only morbidity significantly higher in the R-CDH group. Survivors of R-CDH did not have a significant difference in neurodevelopmental outcome compared to L-CDH cases, with both groups exhibiting normal median GQ scores at one year of age. Crown Copyright © 2016. Published by Elsevier Inc. All rights reserved.

Prediction of postnatal outcomes in fetuses with isolated congenital diaphragmatic hernias using different lung-to-head ratio measurements.

PubMed

Kehl, Sven; Siemer, Jörn; Brunnemer, Suna; Weiss, Christel; Eckert, Sven; Schaible, Thomas; Sütterlin, Marc

2014-05-01

The purpose of this study was to compare different methods for measuring the fetal lung area-to-head circumference ratio and to investigate their prediction of postpartum survival and the need for neonatal extracorporeal membrane oxygenation (ECMO) therapy in fetuses with isolated congenital diaphragmatic hernias. This prospective study included 118 fetuses of at least 20 weeks' gestation with isolated left-sided congenital diaphragmatic hernias. The lung-to-head ratio was measured with 3 different methods (longest diameter, anteroposterior diameter, and tracing). To eliminate the influence of gestational age, the observed-to-expected lung-to-head ratio was calculated. Receiver operating characteristic (ROC) curves were calculated for the statistical prediction of survival and need for ECMO therapy by the observed-to-expected lung-to-head ratio measured with the different methods. For survival and ECMO necessity 118 and 102 cases (16 neonates were not eligible for ECMO) were assessed, respectively. For prediction of postpartum survival and ECMO necessity, the areas under the ROC curves and 95% confidence intervals showed very similar results for the 3 methods for prediction of survival (tracing, 0.8445 [0.7553-0.9336]; longest diameter, 0.8248 [0.7360-0.9136]; and anteroposterior diameter, 0.8002 [0.7075-0.8928]) and for ECMO necessity (tracing, 0.7344 [0.6297-0.8391]; longest diameter, 0.7128 [0.6027-0.8228]; and anteroposterior diameter, 0.7212 [0.6142-0.8281]). Comparisons between the areas under the ROC curves showed that the tracing method was superior to the anteroposterior diameter method in predicting postpartum survival (P = .0300). Lung-to-head ratio and observed-to-expected lung-to-head ratio measurements were shown to accurately predict postnatal survival and the need for ECMO therapy in fetuses with left-sided congenital diaphragmatic hernias. Tracing the limits of the lungs seems to be the favorable method for calculating the fetal lung area.

Malformations associated with congenital diaphragmatic hernia: Impact on survival.

PubMed

Bojanić, Katarina; Pritišanac, Ena; Luetić, Tomislav; Vuković, Jurica; Sprung, Juraj; Weingarten, Toby N; Schroeder, Darrell R; Grizelj, Ruža

2015-11-01

Congenital diaphragmatic hernia (CDH) is associated with high mortality. Survival is influenced by the extent of pulmonary hypoplasia and additional congenital defects. The purpose of this study was to assess the association of congenital anomalies and admission capillary carbon dioxide levels (PcCO2), as a measure of extent of pulmonary hypoplasia, on survival in neonates with CDH. This is a retrospective review of neonates with CDH admitted to a tertiary neonatal intensive care unit between 1990 and 2014. Logistic regression was used to assess whether hospital survival was associated with admission PcCO2 or associated anomalies (isolated CDH, CDH with cardiovascular anomalies, and CDH with noncardiac anomalies). The probabilities of survival (POS) score, based on birth weight and 5-min Apgar as defined by the Congenital Diaphragmatic Hernia Study Group were included as a covariate. Of 97 patients, 55 had additional malformations (cardiovascular n=12, noncardiac anomalies n=43). POS was lower in CDH with other anomalies compared to isolated CDH. Survival rate was 61.9%, 53.5% and 41.7% in isolated CDH, CDH with noncardiac anomalies and CDH with cardiovascular anomalies, respectively. After adjusting for POS score the likelihood of survival in CDH groups with additional anomalies was similar to isolated CDH (OR 0.95, 95% CI 0.22-4.15, and 1.10, 0.39-3.08, for CDH with and without cardiovascular anomalies, respectively). After adjusting for POS score, lower PcCO2 levels (OR=1.25 per 5mmHg decrease, P=0.003) were associated with better survival. Neonates with CDH have a high prevalence of congenital malformations. However, after adjusting for POS score the presence of additional anomalies was not associated with survival. The POS score and admission PcCO2 were important prognosticating factors for survival. Copyright © 2015 Elsevier Inc. All rights reserved.

Multidetector computed tomography diagnosis of gastric volvulus through the foramen of Morgagni.

PubMed

Lecouvet, S; Coulier, B; Pierard, F; Gogoase, M; Coppens, J P; Van Hoof, M

2014-01-01

Morgagni hernia is considered to be the rarest form of all diaphragmatic hernias. It develops through a congenital defect in the retrosternal area. Usually asymptomatic, this entity can lead to life-threatening complications such as incarceration, strangulation or volvulus of the herniated viscus. We hereby report a rare case of organoaxial gastric volvulus producing through the foramen of Morgagni in a 78-year-old woman. The full diagnosis was made by upper gastro-intestinal series and multidetector computed tomography (MDCT). The basic anatomy, physiopathology, diagnostic methods, complications and surgical treatment of Morgagni hernia are briefly reviewed.

Laparoscopic management of left paraduodenal hernia. Case report and review of literature

PubMed Central

ASSENZA, M.; ROSSI, D.; ROSSI, G.; REALE, C.; SIMONELLI, L.; ROMEO, V.; GUERRA, F.; MODINI, C.

2014-01-01

We report a rare case of left paraduodenal hernia in patient with symptoms of abdominal subobstruction treated successful with laparoscopic management in urgent situation that have reduced the length of stay and postoperative pain. Internal hernia is only 1% of the causes of abdominal obstruction and the left paraduodenal hernia about 50% of them; it is a congenital defect that derive from malrotation and abnormal mesenteric adhesion. The modern imaging techniques help for the correct diagnosis despite difficult identification of the pathology for the various clinical presentation. The treatment of choice is the surgical intervention; the laparoscopic approach is rarely described in literature but it can reduce the morbidity, postoperative pain and the length of hospital stay. PMID:25174294

Laparoscopic extraperitoneal inguinal hernia repair. A safe approach based on the understanding of rectus sheath anatomy.

PubMed

Katkhouda, N; Campos, G M; Mavor, E; Trussler, A; Khalil, M; Stoppa, R

1999-12-01

We have devised a reproducible approach to the preperitoneal space for laparoscopic repair of inguinal hernias that is based on an understanding of the abdominal wall anatomy. Laparoscopic totally extraperitoneal herniorrhaphy was performed on 99 hernias in 90 patients at the Los Angeles County-University of Southern California Medical Center, using a standardized approach to the preperitoneal space. Operative times, morbidity, and recurrence rates were recorded prospectively. The median operative time was 37 min (range, 28-60) for unilateral hernias and 46 min (range, 35-73) for bilateral hernias. There were no conversions to open repair, and there was only one conversion to a laparoscopic transabdominal approach. Complications were limited to urinary retention in two patients, pneumoscrotum in one patient, and postoperative pain requiring a large dose of analgesics in one patient. All patients were discharged within 23 h. There were no recurrences or neuralgias on follow-up at 2 years. A standardized approach to the preperitoneal space based on a thorough understanding of the abdominal wall anatomy is essential to a satisfactory outcome in hernia repair.

Laparoscopic totally extraperitoneal repair of inguinal hernia using two-hand approach--a gold standard alternative to open repair.

PubMed

Rajapandian, S; Senthilnathan, P; Gupta, Atul; Gupta, Pinak Das; Praveenraj, P; Vaitheeswaran, V; Palanivelu, C

2010-10-01

As laparoscopy gained popularity, minimal invasive approach was also applied for hernia surgery. Unfortunately the initial efforts were disappointing due to high early recurrence rate. Experience led to refinement of technique, with acceptable recurrence rates. This combined with the advantages of minimal invasive surgery resulted in a gradual rise in worldwide acceptance of this technique. Our preferred approach for inguinal hernia repair is laparoscopic totally extraperitoneal (TEP); only in complicated hernias (sliding or incarcerated inguinal hernias) we use the transabdominal preperitoneal repair (TAPP) technique. Records of all patients who underwent TEP repair for inguinal hernia at our centre in last 15 years were retrospectively analysed. We have done 8659 hernias in 7023 patients by TEP approach. We have developed minor modifications for the TEP repair over the years. Out of total 8659 hernias 5262 was right sided and 3397 left sided. Of these, 5387 hernias were unilateral and the remainder were bilateral; 324 cases of recurrent hernias following open repair underwent TEP. Most of the patients were males with a mean age of 46 years. Indirect hernias were most common, followed by direct hernias. Right-sided hernias were more common than left-sided hernias. In 39 cases conversion to TAPP was needed. There were intra-operative problems in 250 patients (3.56%).Postoperative complications were seen in 192 patients (2.73%), majority of which were minor complications. There was no mortality. Recurrence rate was 0.39%. The TEP technique is comfortable and highly effective. Our port placement maintains triangular orientation that is considered vital to the ergonomics of laparoscopy. Nearly 98-99% of inguinal hernias can be treated by TEP approach with excellent results.

Spontaneous prematurity in fetuses with congenital diaphragmatic hernia: a retrospective cohort study about prenatal predictive factors.

PubMed

Barbosa, Bruna Maria Lopes; Rodrigues, Agatha S; Carvalho, Mario Henrique Burlacchini; Bittar, Roberto Eduardo; Francisco, Rossana Pulcineli Vieira; Bernardes, Lisandra Stein

2018-01-12

To evaluate possible predictive factors of spontaneous prematurity in fetuses with congenital diaphragmatic hernia (CDH). A retrospective cohort study was performed. Inclusion criteria were presence of CDH; absence of fetoscopy; absence of karyotype abnormality; maximum of one major malformation associated with diaphragmatic hernia; ultrasound monitoring at the Obstetrics Clinic of Clinicas Hospital at the University of São Paulo School of Medicine, from January 2001 to October 2014. The data were obtained through the electronic records and ultrasound system of our fetal medicine service. The following variables were analyzed: maternal age, primiparity, associated maternal diseases, smoking, previous spontaneous preterm birth, fetal malformation associated with hernia, polyhydramnios, fetal growth restriction, presence of intrathoracic liver, invasive procedures performed, side of hernia and observed-to- expected lung to head ratio (o/e LHR). On individual analysis, variables were assessed using the Chi-square test and the Mann-Whitney test. A multiple logistic regression model was applied to select variables independently influencing the prediction of preterm delivery. A ROC curve was constructed with the significant variable, identifying the values with best sensitivity and specificity to be suggested for use in clinical practice. Eighty fetuses were evaluated, of which, 21 (26.25%) were premature. O/e LHR was the only factor associated with prematurity (p = 0.020). The ROC curve showed 93% sensitivity with 48.4% specificity for the cutoff of 40%. O/e LHR was the only predictor of prematurity in this sample.

Postmortem investigation of mylohyoid hiatus and hernia: aetiological factors of plunging ranula.

PubMed

Harrison, John D; Kim, Ann; Al-Ali, Saad; Morton, Randall P

2013-09-01

The mylohyoid hiatus and hernia were discovered in the nineteenth century and were considered to explain the origin of the plunging ranula from the sublingual gland. This formed the rationale for sublingual sialadenectomy for the treatment of plunging ranula. However, a more recent, extensive histological investigation reported that hernias contained submandibular gland, which supported an origin of the plunging ranula from the submandibular gland and submandibular sialadenectomy for the treatment of plunging ranula. We therefore decided to investigate the occurrence and location of the hiatus and the histological nature of the hernia. Twenty-three adult cadavers were dissected in the submandibular region. The locations and dimensions of mylohyoid hiatuses were measured before taking biopsies of hernias. Hiatuses with associated hernias were found in ten cadavers: unilateral in six; and bilateral in four, in one of which there were three hiatuses. Sublingual gland was identified in nine hernias and fat without gland in six. This investigation supports clinical and experimental evidence that the plunging ranula originates from the sublingual gland and may enter the neck through the mylohyoid muscle. It confirms the rationale of sublingual sialadenectomy for the treatment of plunging ranula. Copyright © 2013 Wiley Periodicals, Inc.

Giant left paraduodenal hernia

PubMed Central

Cundy, Thomas P; Di Marco, Aimee N; Hamady, Mohamad; Darzi, Ara

2014-01-01

Left paraduodenal hernia (LPDH) is a retrocolic internal hernia of congenital origin that develops through the fossa of Landzert, and extends into the descending mesocolon and left portion of the transverse mesocolon. It carries significant overall risk of mortality, yet delay in diagnosis is not unusual due to subtle and elusive features. Familiarisation with the embryological and anatomical features of this rare hernia is essential for surgical management. This is especially important with respect to vascular anatomy as major mesenteric vessels form intimate relationships with the ventral rim and anterior portion of the hernia. As an illustrative case, we describe our experience with a striking example of LPDH, particularly focusing on the inherent diagnostic challenges and associated critical vascular anatomy. We advocate the role of diagnostic laparoscopy; however caution that decision to safely proceed with laparoscopic repair must occur only with confident identification of the vascular anatomy involved. PMID:24792018

Potential value of routine contralateral patent processus vaginalis repair in children with unilateral inguinal hernia.

PubMed

Zhao, J; Chen, Y; Lin, J; Jin, Y; Yang, H; Wang, F; Zhong, H; Zhu, J

2017-01-01

The development of laparoscopy as a means of evaluation and treatment of inguinal hernia in children has raised the question of whether simultaneous closure of a contralateral patent processus vaginalis (CPPV) is justified. The present study aimed to determine the rate of metachronous inguinal hernia (MIH) in children with CPPV. Children with unilateral inguinal hernia from two hospitals underwent either open or laparoscopic repair, and were followed up for MIH. The presence of CPPV was evaluated during laparoscopy and, if detected, the CPPV was closed. The relationship between CPPV and subsequent MIH was studied. The study included children who had complete follow-up (90·0 per cent of those having open repair and 92·2 per cent of those undergoing laparoscopic repair). Of 2538 children who had open hernia repair, 62 (2·4 per cent) developed MIH (30 on the right side and 32 on the left; P = 0·015). Among 2855 children who underwent laparoscopic repair, a CPPV was identified and closed in 1469 (51·5 per cent). The rate of MIH after negative laparoscopic evaluation for CPPV was three of 2855 (0·1 per cent). There were no significant differences in the rate of CPPV between sexes and either the right or left side (P = 0·072 and P = 0·099 respectively). Ipsilateral recurrence was less frequent after laparoscopic repair: seven (0·2 per cent) versus 26 (1·0 per cent) for open repair (P < 0·001). Laparoscopic inguinal hernia repair was associated with a lower recurrence rate than open repair. Routine repair of CPPV reduced the rate of subsequent MIH, but 21 CPPVs needed to be closed to prevent one MIH. © 2016 BJS Society Ltd Published by John Wiley & Sons Ltd.

Standardization of Sonographic Lung-to-Head Ratio Measurements in Isolated Congenital Diaphragmatic Hernia: Impact on the Reproducibility and Efficacy to Predict Outcomes.

PubMed

Britto, Ingrid Schwach Werneck; Sananes, Nicolas; Olutoye, Oluyinka O; Cass, Darrell L; Sangi-Haghpeykar, Haleh; Lee, Timothy C; Cassady, Christopher I; Mehollin-Ray, Amy; Welty, Stephen; Fernandes, Caraciolo; Belfort, Michael A; Lee, Wesley; Ruano, Rodrigo

2015-10-01

The purpose of this study was to evaluate the impact of standardization of the lung-to-head ratio measurements in isolated congenital diaphragmatic hernia on prediction of neonatal outcomes and reproducibility. We conducted a retrospective cohort study of 77 cases of isolated congenital diaphragmatic hernia managed in a single center between 2004 and 2012. We compared lung-to-head ratio measurements that were performed prospectively in our institution without standardization to standardized measurements performed according to a defined protocol. The standardized lung-to-head ratio measurements were statistically more accurate than the nonstandardized measurements for predicting neonatal mortality (area under the receiver operating characteristic curve, 0.85 versus 0.732; P = .003). After standardization, there were no statistical differences in accuracy between measurements regardless of whether we considered observed-to-expected values (P > .05). Standardization of the lung-to-head ratio did not improve prediction of the need for extracorporeal membrane oxygenation (P> .05). Both intraoperator and interoperator reproducibility were good for the standardized lung-to-head ratio (intraclass correlation coefficient, 0.98 [95% confidence interval, 0.97-0.99]; bias, 0.02 [limits of agreement, -0.11 to +0.15], respectively). Standardization of lung-to-head ratio measurements improves prediction of neonatal outcomes. Further studies are needed to confirm these results and to assess the utility of standardization of other prognostic parameters.

Predicting Full Enteral Feeding in the Postoperative Period in Infants with Congenital Diaphragmatic Hernia.

PubMed

Zozaya, Carlos; Triana, Miryam; Madero, Rosario; Abrams, Steven; Martinez, Leopoldo; Amesty, Maria Virginia; Pipaón, Miguel Sáenz de

2017-10-01

Introduction  The objective of the study is to examine the factors associated with time to achieve full enteral feeding after repair of congenital diaphragmatic hernia. Materials and Methods  Demographic, clinical, and therapeutic data were retrospectively assessed, and uni- and multivariate Cox regression were performed to examine factors predictive of achieving full enteral feeding that was defined as time to achieve120 mL/kg/d after surgical repair. Results  Of 78 infants, 66 underwent intervention before hospital discharge. All infants who survived had reached full enteral feeding at the time of hospital discharge by a median of 22 days (range: 2-119 days) after surgery and 10 days (range: 1-91) after initiation of postoperative enteral feedings. Independent risk factors associated with a longer time to reach full enteral feeding achievement included gastroesophageal reflux and days of antibiotics in the postoperative period. Daily stool passage preoperatively predicted earlier enteral tolerance. Conclusion  Infants who survive congenital diaphragmatic hernia generally are able to achieve full enteral feedings after surgical repair. A longer time to full feeding is needed in the most severe cases, but some specific characteristics can be used to help identify patients at higher risk. Although some of these characteristics are unavoidable, others including rational antibiotic usage and active gastroesophageal reflux prevention and treatment are feasible and may improve enteral tolerance. Georg Thieme Verlag KG Stuttgart · New York.

Contralateral metachronous hernia following negative laparoscopic evaluation for contralateral patent processus vaginalis: a meta-analysis.

PubMed

Zhong, Hongji; Wang, Furan

2014-02-01

To conduct a meta-analysis of contralateral metachronous inguinal hernia (CMIH) that originated from negative laparoscopic evaluation for contralateral patent processus vaginalis (CPPV) in children who presented with a unilateral inguinal hernia and to determine the incidence of and factors associated with such a CMIH. A PubMed search was performed for all studies concerning laparoscopic repair or evaluation of inguinal hernia in children. The search strategy was as follows: (laparoscop* OR coelioscop* OR peritoneoscop* OR laparoendoscop* OR minilaparoscop*) AND ("inguinal hernia" OR "metachronous hernia") AND child*. Inclusion criteria included unilateral inguinal hernia in children, negative laparoscopic evaluation of CPPV, without history of contralateral inguinal surgery previously, and clearly reporting CMIH development or not. Editorials, letters, review articles, case reports, animal studies, and duplicate patient series were excluded. Twenty-three studies comprising 6091 children with negative CPPV fulfilled the inclusion criteria and were included in the final analysis, of whom 80 (1.31%) subsequently presented with a CMIH. Subgroup analysis showed that CMIH incidence was lower through an umbilical approach than via an inguinal one (0.85% versus 1.78%, P=.009). As for the transinguinal approach, there was a CMIH incidence of 0.78% and 2.05%, respectively, for laparoscopy with a small angle (30° and 70°), whereas there was no CMIH development for that with a large angle (110°, 120°, and flexible). A high pneumoperitoneum pressure (>10 mm Hg, >12 mm Hg, and >14 mm Hg) was usually associated with a slightly higher CMIH incidence than a low one (≤10 mm Hg, ≤12 mm Hg, and ≤14 mm Hg), all without significant difference. CMIH incidence was slightly lower for using a broad CPPV definition than for using a narrow one (0.64% versus 1.35%, P=.183). CMIH following negative laparoscopic evaluation for CPPV was a rare but possible phenomenon. Choosing the transumbilical approach, transinguinal laparoscopy with a large angle, low-pressure pneumoperitoneum, and broad CPPV definition would probably reduce the occurrence of such CMIHs.

Early postoperative evaluation of groins after laparoscopic total extraperitoneal repair of inguinal hernias.

PubMed

Shpitz, Baruch; Kuriansky, Josef; Werener, Miriam; Osadchi, Alexandra; Tiomkin, Vitaly; Bugayev, Nikolay; Klein, Ehud

2004-12-01

Minimally invasive laparoscopic total extraperitoneal (LTEP) repair of bilateral and/or recurrent groin hernias has been popularized as one of the procedures of choice in the past decade. The early postoperative course is uneventful in most cases. A few patients, however, will develop temporary postoperative groin swelling. The aim of our study was to evaluate clinical and sonographic findings in the groin during the early postoperative period following LTEP. One hundred and five consecutive patients with primary bilateral (n = 90), recurrent unilateral (n = 12), and primary unilateral (n =3) groin hernias operated on during an 18-month period underwent clinical and sonographic examination two to three weeks after LTEP. On clinical examination, a localized groin swelling was found in 21 patients (20%). The most frequent sonographic findings were localized groin collections compatible with seroma or hematoma, found in 35 patients (33%). Hypoechoic diffuse tissue swelling around the mesh, lipomas, and residual hernias was found in four patients each (4%). None of the patients with hypoecoic mass had any clinical manifestations postoperatively. Extraperitoneal close suction drains were left for 8-12 hours in 46 patients. The average volume of fluid drained was 62 mL (range, 30-200 mL). There was no correlation between the use of suction drains and the frequency of fluid collections detected on sonography. Cord lipoma was detected postoperatively in four patients and was excised in one using an open anterior approach. Residual or recurrent hernia was detected postoperatively on sonography in four patients, but only one developed a symptomatic and clinically detectable hernia during eight months of follow-up. Overall, postoperative ultrasonographic findings following LTEP repair were found in 37% of patients. Clinical and sonographic findings such as localized fluid collections compatible with seroma or hematoma are common following LTEP. Postoperative suction drains did not reduce the frequency of sonographically detected collections. The clinical relevance of suspected postoperative hernia detected on sonography without clinical manifestations remains uncertain, and has to be determined on long-term follow-up.

Adult right-sided Bochdalek hernia with ileo-cecal appendix: Almeida-Reis hernia.

PubMed

Costa Almeida, C E; Reis, Luis S; Almeida, Carlos M Costa

2013-01-01

Bochdalek hernia is one of the most common congenital abnormalities manifested in infants. In the adult is a rarity, with a prevalence of 0.17-6% of all diaphragmatic hernias. Right-sided Bochdalek hernias containing colon are even more rare, with no case described in the literature with ileo-cecal appendix. The authors present a case of a right-sided Bochdalek hernia in an adult female of 49 years old, presented with severe respiratory failure. During laparotomy for hernia correction, were found in an intrathoracic position the cecum and ileo-cecal appendix, the right colon and the transverse colon. Although useful in patient evaluation, clinical history and physical examination are not helpful in making diagnosis because of their nonspecific character. CT scan is the most accurate exam for making diagnosis. Most of the times there is no hernial sac. Surgery is the treatment of choice, and it is always indicated even if asymptomatic. In general suture of the defect is possible. Due to patient's weak respiratory function we chose laparotomy by Kocher incision. Being the first case of a right-sided Bochdalek hernia in the adult with a herniated ileo-cecal appendix, we name it Almeida-Reis hernia. Copyright © 2013 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved.

Poorly understood and often miscategorized congenital umbilical cord hernia: an alternative repair method.

PubMed

İnce, E; Temiz, A; Ezer, S S; Gezer, H Ö; Hiçsönmez, A

2017-06-01

Umbilical cord hernia is poorly understood and often miscategorized as "omphalocele minor". Careless clamping of the cord leads to iatrogenic gut injury in the situation of umbilical cord hernia. This study aimed to determine the characteristics and outcomes of umbilical cord hernias. We also highlight an alternative repair method for umbilical cord hernias. We recorded 15 cases of umbilical cord hernias over 10 years. The patients' data were retrospectively reviewed, and preoperative preparation of the newborn, gestational age, birth weight, other associated malformations, surgical technique used, enteral nutrition, and length of hospitalization were recorded. This study included 15 neonates with umbilical cord hernias. The mean gestational age at the time of referral was 38.2 ± 2.1

Current practices of laparoscopic inguinal hernia repair: a population-based analysis.

PubMed

Trevisonno, M; Kaneva, P; Watanabe, Y; Fried, G M; Feldman, L S; Andalib, A; Vassiliou, M C

2015-10-01

The selection of a laparoscopic approach for inguinal hernias varies among surgeons. It is unclear what is being done in actual practice. The purpose of this study was to report practice patterns for treatment of inguinal hernias among Quebec surgeons, and to identify factors that may be associated with the choice of operative approach. We studied a population-based cohort of patients who underwent an inguinal hernia repair between 2007 and 2011 in Quebec, Canada. A generalized linear model was used to identify predictors associated with the selection of a laparoscopic approach. 49,657 inguinal hernias were repaired by 478 surgeons. Laparoscopic inguinal hernia repair (LIHR) was used in 8 % of all cases. LIHR was used to repair 28 % of bilateral hernias, 10 % of recurrent hernias, 6 % of unilateral hernias, and 4 % of incarcerated hernias. 268 (56 %) surgeons did not perform any laparoscopic repairs, and 11 (2 %) surgeons performed more than 100 repairs. These 11 surgeons performed 61 % of all laparoscopic cases. Patient factors significantly associated with having LIHR included younger age, fewer comorbidities, bilateral hernias, and recurrent hernias. An open approach is favored for all clinical scenarios, even for situations where published guidelines recommend a laparoscopic approach. Surgeons remain divided on the best technique for inguinal hernia repair: while more than half never perform LIHR, the small proportion who perform many use the technique for a large proportion of their cases. There appears to be a gap between the best practices put forth in guidelines and what surgeons are doing in actual practice. Identification of barriers to the broader uptake of LIHR may help inform the design of educational programs to train those who have the desire to offer this technique for certain cases, and have the volume to overcome the learning curve.

Complete dorsal pancreatic agenesis and unilateral renal agenesis.

PubMed

Moreira, Adriana; Carvalho, André; Portugal, Inês; Jesus, José Miguel

2018-02-01

Dorsal pancreatic agenesis is a very rare congenital anomaly. Unilateral renal agenesis, on the other hand, is a relatively common congenital anomaly, although its etiology is not fully understood. Renal and pancreatic embryologic development appears to be nonrelated. We report a case of a 34-year-old man who was referred to our hospital for evaluation of cholestasis and microalbuminuria. Ultrasound and magnetic resonance imaging examinations showed empty right renal fossa and absence of the pancreatic neck, body, and tail. Our case report is the second case of a dorsal pancreatic agenesis and unilateral renal agenesis in a young male patient.

Reconstruction of the symphysis pubis to repair a complex midline hernia in the setting of congenital bladder exstrophy

PubMed Central

Kohler, J. E.; Friedstat, J. S.; Jacobs, M. A.; Voelzke, B. B.; Foy, H. M.; Grady, R. W.; Gruss, J. S.

2015-01-01

Purpose A 40-year-old man with congenital midline defect and wide pubic symphysis diastasis secondary to bladder exstrophy presented with a massive incisional hernia resulting from complications of multiple prior abdominal repairs. Using a multi-disciplinary team of general, plastic, and urologic surgeons, we performed a complex hernia repair including creation of a pubic symphysis with rib graft for inferior fixation of mesh. Methods The skin graft overlying the peritoneum was excised, and the posterior rectus sheath mobilized, then re-approximated. The previously augmented bladder and urethra were mobilized into the pelvis, after which a rib graft was constructed from the 7th rib and used to create a symphysis pubis using a mortise joint. This rib graft was used to fix the inferior portion of a 20 × 25 cm porcine xenograft mesh in a retro-rectus position. With the defect closed, prior skin scars were excised and the wound closed over multiple drains. Results The patient tolerated the procedure well. His post-operative course was complicated by a vesico-cutaneous fistula and associated urinary tract and wound infections. This resolved by drainage with a urethral catheter and bilateral percutaneous nephrostomies. The patient has subsequently healed well with an intact hernia repair. The increased intra-abdominal pressure from his intact abdominal wall has been associated with increased stress urinary incontinence. Conclusions Although a difficult operation prone to serious complications, reconstruction of the symphysis pubis is an effective means for creating an inferior border to affix mesh in complex hernia repairs associated with bladder exstrophy. PMID:25156539

Laparoscopic totally extraperitoneal inguinal hernia repair: lessons learned from 3,100 hernia repairs over 15 years.

PubMed

Dulucq, Jean-Louis; Wintringer, Pascal; Mahajna, Ahmad

2009-03-01

Two revolutions in inguinal hernia repair surgery have occurred during the last two decades. The first was the introduction of tension-free hernia repair by Liechtenstein in 1989 and the second was the application of laparoscopic surgery to the treatment of inguinal hernia in the early 1990s. The purposes of this study were to assess the safety and effectiveness of laparoscopic totally extraperitoneal (TEP) repair and to discuss the technical changes that we faced on the basis of our accumulative experience. Patients who underwent an elective inguinal hernia repair at the Department of Abdominal Surgery at the Institute of Laparoscopic Surgery (ILS), Bordeaux, between June 1990 and May 2005 were enrolled retrospectively in this study. Patient demographic data, operative and postoperative course, and outpatient follow-up were studied. A total of 3,100 hernia repairs were included in the study. The majority of the hernias were repaired by TEP technique; the repair was done by transabdominal preperitoneal (TAPP) repair in only 3%. Eleven percent of the hernias were recurrences after conventional repair. Mean operative time was 17 min in unilateral hernia and 24 min in bilateral hernia. There were 36 hernias (1.2%) that required conversion: 12 hernias were converted to open anterior Liechtenstein and 24 to laparoscopic TAPP technique. The incidence of intraoperative complications was low. Most of the patients were discharged at the second day of the surgery. The overall postoperative morbidity rate was 2.2%. The incidence of recurrence rate was 0.35%. The recurrence rate for the first 200 repairs was 2.5%, but it decreased to 0.47% for the subsequent 1,254 hernia repairs According to our experience, in the hands of experienced laparoscopic surgeons, laparoscopic hernia repair seems to be the favored approach for most types of inguinal hernias. TEP is preferred over TAPP as the peritoneum is not violated and there are fewer intra-abdominal complications.

Study on the prevalence and neonatal lethality in patients with selected congenital anomalies as per the data of the National Registry of Congenital Anomalies of Argentina.

PubMed

Bidondo, María Paz; Groisman, Boris; Gili, Juan A; Liascovich, Rosa; Barbero, Pablo; Pingray, Verónica

2015-08-01

Congenital anomalies (CAs) account for 26% of infant mortality in Argentina. The lethality rate for CAs measures the risk of death among affected infants. To describe the prevalence at birth of a group of selected CAs, to estimate the neonatal lethality rate, and to examine its association with different variables. The study was conducted using data provided by the National Registry of Congenital Anomalies. Prevalences of encephalocele, spina bifida, gastroschisis, omphalocele, diaphragmatic hernia, esophageal atresia, intestinal atresia, or anorectal malformation were estimated (2009-2013 period). Lethality was assessed at 7 and 28 days of life in affected infants with an isolated anomaly (2013). Association with the following variables was analyzed: sex, gestational age, birth weight, antenatal ultrasound screening, percentage of unmet basic needs in the district where the mother lives, geographic region, and level of care at the hospital where the delivery took place. Gastroschisis was the most prevalent CA (8.53/10,000 births), while diaphragmatic hernia was the CA with the highest neonatal lethality rate (66.67%). Out of all selected CAs, there was a significant association between an higher gestational age and survival at 7 days -OR: 0.81 (0.70-0.95)- and survival at 28 days -OR: 0.79 (95% confidence interval |-CI-|: 0.68-0.91)-. A higher percentage of unmet basic needs was associated with a higher lethality for diaphragmatic hernia -OR: 1.59 (95% CI: 1.30-1.95)- and for intestinal atresia or anorectal malformation -OR: 16.00 (95% CI: 1.63-157.24)-. The high prevalence of gastroschisis is consistent with the increase observed globally. Prematurity and a high percentage of unmet basic needs increased the risk of death among affected infants.

Overview of Epidemiology, Genetics, Birth Defects, and Chromosome Abnormalities Associated With CDH

PubMed Central

Pober, Barbara R.

2010-01-01

Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations. PMID:17436298

Congenital syphilis: an unusual presentation.

PubMed

Dzebolo, N N

1980-08-01

Congenital syphilis was discovered in a neonate with the unusual radiographic presentation of unilateral involvement of three bones showing lytic lesions and periostitis. Congenital syphilis should be considered in a newborn infant with these radiographic manifestations, especially when a suggestive history is obtained.

Preperitoneal surgery using a self-adhesive mesh for inguinal hernia repair.

PubMed

Mangram, Alicia; Oguntodu, Olakunle F; Rodriguez, Francisco; Rassadi, Roozbeh; Haley, Michael; Shively, Cynthia J; Dzandu, James K

2014-01-01

Laparoscopic preperitoneal hernia repair with mesh has been reported to result in improved patient outcomes. However, there are few published data on the use of a totally extraperitoneal (TEP) approach. The purpose of this study was to present our experience and evaluate early outcomes of TEP inguinal hernia repair with self-adhesive mesh. This cohort study was a retrospective review of patients who underwent laparoscopic TEP inguinal hernial repair from April 4, 2010, through July 22, 2014. Data assessed were age, sex, body mass index (BMI), hernia repair indications, hernia type, pain, paresthesia, occurrence (bilateral or unilateral), recurrence, and patient satisfaction. Descriptive and regression analyses were performed. Six hundred forty patients underwent laparoscopic preperitoneal hernia surgery with self-adhesive mesh. The average age was 56 years, nearly all were men (95.8%), and the mean BMI was 26.2 kg/m(2). Cases involved primary hernia more frequently than recurrent hernia (94% vs 6%; P < .05). After surgery, 92% of the patients reported no more than minimal pain, <1% reported paresthesia, and 0.2% had early recurrence. There were 7 conversions to an open procedure. The patients had no adverse reactions to anesthesia and no bladder injury. Postoperative acute pain or recurrence was not explained by demographics, BMI, or preoperative pain. There were significant associations of hernia side, recurrence, occurrence, and sex with composite end points. Nearly all patients (98%) were satisfied with the outcome. The use of self-adhesive, Velcro-type mesh in laparoscopic TEP inguinal hernia repair is associated with reduced pain; low rates of early recurrence, infection, and hematoma; and improved patient satisfaction.

Congenital posterolateral diaphragmatic hernia.

PubMed

Woolley, M M

1976-04-01

The infant who is born with a posterolateral diaphragmatic hernia who becomes symptomatic at or soon after birth requires urgent care. Surgical reduction of the diaphragmatic hernia must be accomplished quickly. Respiratory and metabolic acidosis must be treated appropriately. The parents should be informed of the gravity of their infant's problem and reassurred by appropriate explanation of the nature of the defect and the therapeutic requirements. If the infant dies, the parents are in need of empathy, reassurance, and adequate explanation so that they do not have lingering doubts regarding the etiology of the anomaly and the adequacy of the therapy. If the infant lives, the medical team can share the feeling of a job well done.

Congenital Diaphragmatic Hernia Research Act of 2012

THOMAS, 112th Congress

Sen. Sessions, Jeff [R-AL

2012-07-18

Senate - 07/18/2012 Read twice and referred to the Committee on Health, Education, Labor, and Pensions. (All Actions) Tracker: This bill has the status IntroducedHere are the steps for Status of Legislation:

Rare combination of left-sided congenital diaphragmatic hernia and omphalocele.

PubMed

Chee, Yuet Yee; Wong, Siu Chun Mabel; Wong, Ming Sum Rosanna

2017-08-07

We reported a rare case of left-sided posterolateral congenital diaphragmatic hernia (CDH) and omphalocele, which is not associated with chromosomal abnormalities or other syndromes. Omphalocele was detected antenatally (CDH was not detected in antenatal ultrasound). The patient suffered from respiratory failure secondary to severe pulmonary hypertension. As the combination of CDH and omphalocele is rare and with the abdominal content herniating into the omphalocele instead of the thorax, antenatal diagnosis of such condition can be difficult. Unlike other reported cases in the literature, our patient's respiratory condition has been improving with time and is surviving beyond the infancy period. We believe this to be the first such survival case reported in the literature. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Delayed presentation of congenital diaphragmatic hernia manifesting as combined-type acute gastric volvulus: a case report and review of the literature.

PubMed

Anaya-Ayala, Javier E; Naik-Mathuria, Bindi; Olutoye, Oluyinka O

2008-03-01

Acute gastric volvulus associated with congenital diaphragmatic hernia is an unusual surgical emergency. We describe a case of an 11-year-old girl who presented with a 4-day history of abdominal pain, nonproductive retching, cough, and shortness of breath. A chest radiograph revealed a large air-fluid level in left hemithorax and the presence of intestinal loops with marked mediastinal deviation. Nasogastric decompression was unsuccessful. Via a thoracoscopic approach, the large fluid-filled stomach was percutaneously decompressed but could not be reduced. Through a left subcostal incision, a left-sided diaphragmatic defect about 4 x 5 cm was encountered. A large portion of small intestines, ascending and transverse colon, strangulated but viable stomach, and a large spleen herniated through the defect. The contents were reduced, revealing a combined gastric volvulus. Once the diaphragmatic defect was repaired primarily, there was insufficient space in the abdominal cavity to contain all the viscera reduced form the chest. Therefore, we placed an AlloDerm patch on the fascia and closed with a wound V.A.C (Kinetic Concepts Inc, San Antonio, TX). Two weeks later, the wound was definitively closed; she recovered uneventfully and was discharged home 3 days later. To our knowledge, only 26 previous cases of acute gastric volvulus complicating a congenital diaphragmatic hernia in children have been reported in the literature. Our patient represents the 27th case and the first combined type acute gastric volvulus case.

Assessment of pulmonary vascular reactivity to oxygen using fractional moving blood volume in fetuses with normal lung development and pulmonary hypoplasia in congenital diaphragmatic hernia.

PubMed

DeKoninck, Philip; Jimenez, Julio; Russo, Francesca M; Hodges, Ryan; Gratacós, Eduard; Deprest, Jan

2014-10-01

The objective of this study is to evaluate whether assessment pulmonary vascular reactivity in response to maternal hyperoxygenation using fractional moving blood volume (FMBV) is associated with lesser variability between individual measurements than what is observed with direct Doppler measurements. Forty-five measurements were performed in 15 singleton fetuses with normal lung development at three time points in the latter half of pregnancy (range: 25.9-36.7 weeks). We further evaluated five fetuses with severe congenital diaphragmatic hernia. Lung perfusion was assessed using power Doppler ultrasound, and images were stored for offline FMBV calculation, both at base line and during oxygen administration (9 L/min for 10 min). The proportionate difference between both measurements is further referred to as deltaFMBV. Overall, 91% of images were of sufficient quality for further analysis. There was no correlation between pulmonary reactivity to oxygen (deltaFMBV) and gestational age in controls (12.9 ± 32.1%). Moreover, deltaFMBV showed large variability between subjects, as well as within the same fetus throughout gestation. We observed good intraobserver (0.88; 0.84) and interobserver (0.88; 0.77) reproducibility for both controls and congenital diaphragmatic hernia, respectively (intraclass correlation coefficients). Despite being a reproducible method to study the lung vasculature, the large variability of FMBV following hyperoxygenation limits its clinical translation. © 2014 John Wiley & Sons, Ltd.

Transcutaneous laparoscopic hernia repair in children: a prospective review of 275 hernia repairs with minimum 2-year follow-up.

PubMed

Dutta, Sanjeev; Albanese, Craig

2009-01-01

Inguinal hernia in children is traditionally repaired through a groin incision by dissecting the hernia sac from the spermatic cord and suture ligating its base. A laparoscopic modification of this procedure involves placement of a transcutaneous suture around the neck of the sac through a 2-mm stab incision under visualization with an umbilically placed 2.7-mm 30 degrees lens. We reviewed the clinical outcome of this novel procedure at our institution. Prospective review of 275 hernias in 187 children (144 male, 43 female) performed laparoscopically by a single surgeon between September, 2002 and June, 2005. Data analyzed included side of hernia, incarceration, prematurity, recurrence rate, and complications. 30 left, 69 right, and 25 bilateral hernias were repaired. Sixty-three unilateral hernias had a contralateral patent processus vaginalis that was repaired. Mean operative time for a bilateral repair was 17 min. Two procedures were for recurrence after open repair. Forty-nine patients were ex-premature infants, accounting for 79 repairs. Fifteen cases followed reduction of incarcerated hernias, nine of whom were in preterm infants. Four out of 275 hernias (1.5%) recurred in four patients (mean age 4.5 years; 3 male, 1 female). There were four superficial wound infections, two umbilical granulomas, two hydroceles, and six self-resolving hematomas. There were no spermatic cord injuries, testicular atrophy, or symptoms of ilioinguinal nerve injuries. This novel laparoscopic inguinal hernia repair is an effective method in children, with recurrence rates comparable to the traditional approach. Advantages of the laparoscopic operation include a "no-touch" approach to the spermatic cord structures, a virtually virgin operative field in cases of recurrence, and excellent cosmesis. Disadvantages include peritoneal access and nonhermetic seal in males.

Laparoendoscopic single-site extraperitoneal inguinal hernia repair: initial experience in 10 patients.

PubMed

Do, Minh; Liatsikos, Evangelos; Beatty, John; Haefner, Tim; Dunn, Ian; Kallidonis, Panagiotis; Stolzenburg, Jens-Uwe

2011-06-01

Recent technical advances and a trend toward laparoscopic single incision surgery have led us to explore the feasibility of laparoendoscopic single-site (LESS) hernia repair. We present our technique and initial experience with LESS extraperitoneal inguinal hernia repair in 10 consecutive men with unilateral inguinal hernias. Age range was 43.7 (28-64) years. Mean body mass index was 28 (range 24-30). Six were left inguinal hernias. There were six indirect and four direct hernias. Three patients had undergone previous open appendectomy. Incarcerated or bilateral hernias were excluded from our initial series. All cases were performed by three surgeons who were experienced in conventional totally extraperitoneal laparoscopic hernia repair as well as experienced in LESS. A literature review of current single-port inguinal hernia repair data is also presented. The mean operative time was 53 minutes (range 45-65  min). The average length of skin incision was 2.8  cm (range 2.3-3.2  cm). No drain was necessary in any of the patients, while no recordable bleeding was observed. There were no intraoperative or immediate postoperative complications. Hospitalization period was 2 days for all patients. After a limited follow-up of 1 month, there have been no recurrences and no complaints of testicular pain. The results of the current series compare favorably with those found in a literature review. LESS extraperitoneal inguinal hernia repair is both feasible and safe, although more technically demanding than its conventional laparoscopic counterpart. Although the cosmetic result with the former approach may prove superior, there are standing questions regarding the complications and long-term outcome. Randomized and if possible blinded trials that compare conventional and single-incision laparoscopic hernia repair may help to distinguish the most advantageous technique.

Congenital diaphragmatic hernias: from genes to mechanisms to therapies

PubMed Central

McCulley, David J.; Shen, Yufeng; Wynn, Julia; Shang, Linshan; Bogenschutz, Eric; Sun, Xin

2017-01-01

ABSTRACT Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a common class of congenital birth defects that are associated with significant morbidity and mortality due to associated pulmonary hypoplasia, pulmonary hypertension and heart failure. In ∼30% of CDH patients, genomic analyses have identified a range of genetic defects, including chromosomal anomalies, copy number variants and sequence variants. The affected genes identified in CDH patients include transcription factors, such as GATA4, ZFPM2, NR2F2 and WT1, and signaling pathway components, including members of the retinoic acid pathway. Mutations in these genes affect diaphragm development and can have pleiotropic effects on pulmonary and cardiac development. New therapies, including fetal endoscopic tracheal occlusion and prenatal transplacental fetal treatments, aim to normalize lung development and pulmonary vascular tone to prevent and treat lung hypoplasia and pulmonary hypertension, respectively. Studies of the association between particular genetic mutations and clinical outcomes should allow us to better understand the origin of this birth defect and to improve our ability to predict and identify patients most likely to benefit from specialized treatment strategies. PMID:28768736

The comparative evaluation of safety and efficacy of unilateral paravertebral block with conventional spinal anaesthesia for inguinal hernia repair

PubMed Central

Sinha, Sunil Kumar; Brahmchari, Yudhyavir; Kaur, Manpreet; Jain, Aruna

2016-01-01

Background and Aims: Unilateral paravertebral block (PVB) as a sole anaesthetic technique is underutilised even in experienced hands. Hence, this study was undertaken regarding the efficacy and safety of PVB and compared with subarachnoid block (SAB) for inguinal hernia repair procedures. Methods: Sixty-three consenting adult male patients scheduled for unilateral inguinal hernia repair were randomly assigned to receive either PVB or SAB (Group P: PVBs at T10–L2 levels, 5 mL of 0.5% bupivacaine at each segment; Group S: SAB at L3–L4 level with 12.5 mg 0.5% of hyperbaric bupivacaine). Primary objective was to compare duration of post-operative analgesia and time to reach discharge criteria (modified Aldrete scores and modified post-anaesthetic discharge scoring [PADS] scores). Secondary objectives were to compare the block characteristics (time required for performing the block, time to surgical anaesthesia, time to ambulation, time to the first analgesic, total rescue analgesic consumption) and adverse effects. Independent Student's t-test was used for continuous data and Pearson Chi-square test for categorical data. P <0.05 was considered as statistically significant. Results: The duration of post-operative analgesia (min) was 384.57 ± 38.67 in Group P and 194.27 ± 20.30 in Group S (P < 0.05). Modified PADS scores were significantly higher at 4 h and 6 h (P < 0.0001) in Group P. Time to reach the discharge criteria was early in Group P than Group S. Conclusion: PVB provides excellent post-operative analgesic conditions with lesser adverse effects and shorter time to reach the discharge criteria compared to SAB. PMID:27512167

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.

PubMed

Smigiel, Robert; Jakubiak, Aleksandra; Lombardi, Maria Paola; Jaworski, Wojciech; Slezak, Ryszard; Patkowski, Dariusz; Hennekam, Raoul C

2011-05-01

Goltz-Gorlin syndrome is a highly variable disorder affecting many body parts of meso-ectodermal origin. Mutations in X-linked PORCN have been identified in almost all patients with a classical Goltz-Gorlin phenotype. The pentalogy of Cantrell is an infrequently described congenital disorder characterized by the combination of five anomalies: a midline supra-umbilical abdominal wall defect; absent or cleft lower part of the sternum; deficiency of the diaphragmatic pericardium; deficiency of the anterior diaphragm; and congenital heart anomalies. Etiology and pathogenesis are unknown. We report on an infant with findings fitting both Goltz-Gorlin syndrome (sparse hair; anophthalmia; clefting; bifid nose; irregular vermillion of both lips; asymmetrical limb malformations; caudal appendage; linear aplastic skin defects; unilateral hearing loss) and the pentalogy of Cantrell (absent lower sternum; anterior diaphragmatic hernia; ectopia cordis; omphalocele). The clinical diagnosis Goltz-Gorlin syndrome was confirmed molecularly by a point mutation in PORCN (c.727C>T). The presence of molecularly confirmed Goltz-Gorlin syndrome and pentalogy of Cantrell in a single patient has been reported twice before. The present patient confirms that the pentalogy of Cantrell can be caused in some patients by a PORCN mutation. It remains at present uncertain whether this can be explained by the type or localization of the mutation within PORCN, or whether the co-occurrence of the two entities is additionally determined by mutations or polymorphisms in other genes, environmental factors, and/or epigenetic influences. Copyright © 2011 Wiley-Liss, Inc.

Mesh hernia repair and male infertility: a retrospective register study.

PubMed

Hallén, Magnus; Westerdahl, Johan; Nordin, Pär; Gunnarsson, Ulf; Sandblom, Gabriel

2012-01-01

Previous studies have suggested that the use of mesh in groin hernia repair may be associated with an increased risk for male infertility as a result of inflammatory obliteration of structures in the spermatic cord. In a recent study, we could not find an increased incidence of involuntary childlessness. The aim of this study was to evaluate this issue further. Men born between 1950 and 1989, with a hernia repair registered in the Swedish Hernia Register between 1992 and 2007 were cross-linked with all men in the same age group with the diagnosis of male infertility according to the Swedish National Patient Register. The cumulative and expected incidences of infertility were analyzed. Separate multivariate logistic analyses, adjusted for age and years elapsed since the first repair, were performed for men with unilateral and bilateral repair, respectively. Overall, 34,267 men were identified with a history of at least 1 inguinal hernia repair. A total of 233 (0.7%) of these had been given the diagnosis of male infertility after their first operation. We did not find any differences between expected and observed cumulative incidences of infertility in men operated with hernia repair. Men with bilateral hernia repair had a slightly increased risk for infertility when mesh was used on either side. However, the cumulative incidence was less than 1%. Inguinal hernia repair with mesh is not associated with an increased incidence of, or clinically important risk for, male infertility. Copyright © 2012 Mosby, Inc. All rights reserved.

Systemic inflammatory response after endoscopic (TEP) vs Shouldice groin hernia repair.

PubMed

Schwab, R; Eissele, S; Brückner, U B; Gebhard, F; Becker, H P

2004-08-01

Endoscopic techniques are commonly used for many different types of surgery. It is claimed that videoendoscopic procedures have the advantage of being less traumatic and of offering higher postoperative patient comfort than conventional open techniques. The extent of tissue trauma can be evaluated on the basis of the inflammatory response observed in the wake of surgery. Available studies that have compared endoscopic and conventional techniques suggest that endoscopic cholecystectomy, laparoscopic colorectal resection, and thoracoscopic pulmonary resection have immunologic advantages over conventional approaches. The objective of this prospective study was to determine whether endoscopic hernia repair techniques are also preferable to conventional procedures and to what extent the anesthetic technique (local or general anesthesia) influences the postoperative inflammatory response. For this purpose, biochemical monitoring of cytokine activity [C-reactive protein (CRP), prostaglandin F1alpha (PGF1alpha), neopterin, interleukin-6 (IL-6)] was done prospectively in 101 patients [totally extraperitoneal approach (TEP) n=32, unilateral n=12, bilateral n=20; Shouldice n=69, local anesthesia (LA) n=23, general anesthesia (GA) n=46] before and until 3 days after surgery. The parameters IL-6 and PGF1alpha suggested that the immune trauma immediately after surgery was significantly higher in the group of patients with endoscopic hernia repair than in the group of patients who received a Shouldice repair. No significant differences were observed after the first postoperative day. A comparison between the TEP group and the patients who received conventional surgery under local anesthesia showed that the TEP approach was also associated with a higher postoperative neopterin level. Within the first 3 days after surgical intervention, bilateral endoscopic hernia repair induced no significantly higher inflammatory response than the surgical treatment of unilateral conditions. The anesthetic procedure that was used in the Shouldice operation had no significant effect on inflammatory response. Unlike other types of endoscopic surgery, the repair of groin hernias using an endoscopic technique cannot be regarded as a minimally invasive procedure that is less traumatic than conventional approaches. Instead, the conventional Shouldice procedure appears to cause the lowest inflammatory response and to be the least traumatic approach to hernia repair, especially when it is performed under local anesthesia.

Long-term outcome for open preperitoneal mesh repair of recurrent inguinal hernia.

PubMed

Yang, Bin; Jiang, Zhi-peng; Li, Ying-ru; Zong, Zhen; Chen, Shuang

2015-07-01

Recurrent inguinal hernia represents a major challenge for surgeons with high risks of re-recurrence and complications, especially when an anterior approach is adopted. The aim of this study was to evaluate the long-term results of the open preperitoneal mesh repair for recurrent inguinal hernia. We performed a prospective clinical study of 107 consecutive patients having recurrent inguinal hernias between April 2006 and November 2010. All patients were operated on using open preperitoneal mesh repair. The demographics, perioperative variables, complications and recurrences were evaluated with all patients. There were no major intraoperative complications. The average operative time was 42.1 min (range 28-83 min) for unilateral and 62.7 min (range 38-106 min) for bilateral hernias. The mean postoperative hospital stay was 1.6 days (range 1-9 days). The overall complication rate was 8.4%. There were two superficial wound infections, two groin seroma and three urinary retention. The mean follow-up time was 42.3 months (range 28-73 months), three patients developed hernia recurrence. No testicular, chronic pain or mesh-related complications were noted in these series. Open posterior preperitoneal mesh repair offers a viable option for recurrent inguinal hernias and achieves equally effective results to laparoscopic approaches with acceptable complication and recurrence rates. It is safer and easier to learn than laparoscopic repair and has become the preferred approach for treatment of the majority of recurrent inguinal hernias at our institution, especially useful for complex multirecurrent hernias and patients with cardiopulmonary insufficiency. Copyright © 2015 IJS Publishing Group Limited. Published by Elsevier Ltd. All rights reserved.

The case for early use of rapid whole genome sequencing in management of critically ill infants: Late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease and recurrent infections.

PubMed

Sweeney, Nathaly M; Nahas, Shareef A; Chowdhury, Shimul; Del Campo, Miguel; Jones, Marilyn C; Dimmock, David P; Kingsmore, Stephen F; Investigators, Rcigm

2018-03-16

Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease and pulmonary hypertension. Genetically, it is associated with aneuploidies, chromosomal copy number variants, and single gene mutations. CDH is the most expensive non-cardiac congenital defect: Management frequently requires implementation of Extracorporeal Membrane Oxygenation (ECMO), which increases management expenditures 2.4 - 3.5-fold. The cost of management of CDH has been estimated to exceed $250 million per year. Despite in hospital survival of 80-90%, current management is imperfect, as a great proportion of surviving children have long-term functional deficits. We report the case of a premature infant prenatally diagnosed with CDH and congenital heart disease, who had a protracted and complicated course in the intensive care unit with multiple surgical interventions, including post-cardiac surgery ECMO, gastrostomy tube placement with Nissen fundoplication, tracheostomy for respiratory failure, recurrent infections and developmental delay. Rapid whole genome sequencing (rWGS) identified a de novo, likely pathogenic, c.3096_3100delCAAAG (p.Lys1033Argfs*32) variant in ARID1B, providing a diagnosis of Coffin-Siris syndrome. Her parents elected palliative care and she died later that day. Had rWGS been performed as a neonate, eight months of suffering and futile healthcare utilization may have been avoided. Cold Spring Harbor Laboratory Press.

Total Extraperitoneal Hernia Repair: Residency Teaching Program and Outcome Evaluation.

PubMed

Garofalo, Fabio; Mota-Moya, Pau; Munday, Andrew; Romy, Sébastien

2017-01-01

Total extraperitoneal (TEP) hernia repair has been shown to offer less pain, shorter postoperative hospital stay and earlier return to work when compared to open surgery. Our institution routinely performs TEP procedures for patients with primary or recurrent inguinal hernias. The aim of this study was to show that supervised senior residents can safely perform TEP repairs in a teaching setting. All consecutive patients treated for inguinal hernias by laparoscopic approach from October 2008 to June 2012 were retrospectively analyzed from a prospective database. A total of 219 TEP repairs were performed on 171 patients: 123 unilateral and 48 bilateral. The mean patient age was 51.6 years with a standard deviation (SD) of ± 15.9. Supervised senior residents performed 171 (78 %) and staff surgeons 48 (22 %) TEP repairs, respectively. Thirty-day morbidity included cases of inguinal paresthesias (0.4 %, n = 1), umbilical hematomas (0.9 %, n = 2), superficial wound infections (0.9 %, n = 2), scrotal hematomas (2.7 %, n = 6), postoperative urinary retentions (2.7 %, n = 6), chronic pain syndromes (5 %, n = 11) and postoperative seromas (6.7 %, n = 14). Overall, complication rates were 18.7 % for staff surgeons and 19.3 % for residents (p = 0.83). For staff surgeons and residents, mean operative times for unilateral hernia repairs were 65 min (SD ± 18.9) and 77.6 min (SD ± 29.8) (p = 0.043), respectively, while mean operative times for bilateral repairs were 115 min (SD ± 40.1) and 103.6 (SD ± 25.9) (p = 0.05). TEP repair is a safe procedure when performed by supervised senior surgical trainees. Teaching of TEP should be routinely included in general surgery residency programs.

Dynamic self-regulating prosthesis (protesi autoregolantesi dinamica): the long-term results in the treatment of primary inguinal hernias.

PubMed

Valenti, Gabriele; Baldassarre, Emanuele; Testa, Alessandro; Arturi, Alessandro; Torino, Giovanni; Campisi, Costantino; Capuano, Giorgio

2006-03-01

The dynamic self-regulating prosthesis (protesi autoregolantesi dinamica, PAD) is a double-layered prosthesi, in use since 1992 in inguinal hernia repair. In 1999, we published the short-term results on 500 patients and herein we report the long-term follow-up. Five hundred eighty-five PAD procedures were performed on 500 adult male, unselected patients. Hernias were unilateral in 415 patients, were bilateral in 85 patients, were direct in 197 patients (33.7%), were indirect in 269 patients (46.0%), and were combined in 119 patients (20.3%). Four hundred sixty-four patients were alive at the follow-up period of minimum 5 years, whereas 36 died (7.2%) of causes unrelated to the hernia. No information was available on 73 patients (14.6%). Therefore, the follow-up was consisted of 391 patients (78.2%) with 469 hernias. The recurrence and testicular atrophy rates were nil. Three patients (0.77%) presented chronic pain and 18 (4.6%) suffered persistent discomfort or paresthesia. A hydrocoele was observed in one patient (0.2%). The long-term data confirm the efficacy of the dynamic self-regulating posthesis hernioplasty. We propose it as a standard of care in all cases of primary inguinal hernia in adult males, retaining it as a definitive and comfortable solution.

Congenital left paraduodenal hernia causing chronic abdominal pain and abdominal catastrophe.

PubMed

Shi, Yan; Felsted, Amy E; Masand, Prakash M; Mothner, Brent A; Nuchtern, Jed G; Rodriguez, J Ruben; Vasudevan, Sanjeev A

2015-04-01

Paraduodenal hernias are the most common type of congenital internal hernia. Because of its overall rare incidence, this entity is often overlooked during initial assessment of the patient. Lack of specific diagnostic criteria also makes diagnosis exceedingly difficult, and the resulting diagnostic delays can lead to tragic outcomes for patients. Despite these perceived barriers to timely diagnosis, there may be specific radiographic findings that, when combined with the appropriate constellation of clinical symptoms, would aid in diagnosis. This patient first presented at 8 years of age with vague symptoms of postprandial emesis, chronic abdominal pain, nausea, and syncope. Over the span of 6 years he was evaluated 2 to 3 times a year with similar complaints, all of which quickly resolved spontaneously. He underwent multiple laboratory, imaging, and endoscopic studies, which were nondiagnostic. It was not until he developed signs of a high-grade obstruction and extremis that he was found to have a large left paraduodenal hernia that had volvulized around the superior mesenteric axis. This resulted in the loss of the entire superior mesenteric axis distribution of the small and large intestine and necrosis of the duodenum. In cases of chronic intermittent obstruction without clear etiology, careful attention and consideration should be given to the constellation of symptoms, imaging studies, and potential use of diagnostic laparoscopy. Increased vigilance by primary care and consulting physicians is necessary to detect this rare but readily correctable condition. Copyright © 2015 by the American Academy of Pediatrics.

Pediatric femoral hernia in the laparoscopic era.

PubMed

Aneiros Castro, Belén; Cano Novillo, Indalecio; García Vázquez, Araceli; López Díaz, María; Benavent Gordo, María Isabel; Gómez Fraile, Andrés

2017-12-20

Femoral hernia is a rare and often misdiagnosed condition in childhood. The aim of our study was to demonstrate that the laparoscopic approach improves diagnostic accuracy and offers a safe and effective treatment. A retrospective study of 687 pediatric patients who underwent laparoscopic inguinal hernia repair from January 2000 to December 2015 was performed. Femoral hernias were identified in 16 patients (2.3%). The right side was affected in 10 cases (62.5%), the left side in 5 (31.2%), and 1 case was bilateral (6.2%). The mean age of patients was 8.00 ± 3.81 years, and there was a male predominance. Preoperative diagnosis was femoral hernia in eight cases (50%) and indirect inguinal hernia in the remaining eight (50%). Seven children (43.8%) presented with hernia recurrence after having undergone an open ipsilateral indirect hernia repair. A modified laparoscopic McVay technique was performed in 12 cases (70.6%). An epigastric artery injury by trocar occurred in one patient. All operations were completed laparoscopically. The mean surgical time was 45.6 ± 22.9 min for unilateral cases and 110 ± 10.0 min for bilateral cases. No immediate postoperative complications were noted. The mean postoperative hospital stay was 0.6 ± 0.4 days. No recurrence was observed after a median follow-up of 11 years (range, 4-16 years). Femoral hernia is a rare pathology in pediatric patients that is often difficult to diagnose. The laparoscopic approach is effective in the diagnosing and treating these hernias, and it allows for the simultaneous repair of multiple groin defects. © 2017 Japan Society for Endoscopic Surgery, Asia Endosurgery Task Force and John Wiley & Sons Australia, Ltd.

Inguinal hernia repair: are the results from a general hospital comparable to those from dedicated hernia centres?

PubMed Central

Cheong, Kai Xiong; Lo, Hong Yee; Neo, Jun Xiang Andy; Appasamy, Vijayan; Chiu, Ming Terk

2014-01-01

INTRODUCTION We aimed to report the outcomes of inguinal hernia repair performed at Tan Tock Seng Hospital and compare them with those performed at dedicated hernia centres. METHODS We retrospectively analysed the medical records and telephone interviews of 520 patients who underwent inguinal hernia repair in 2010. RESULTS The majority of the patients were male (498 [95.8%] men vs. 22 [4.2%] women). The mean age was 59.9 ± 15.7 years. Most patients (n = 445, 85.6%) had unilateral hernias (25.8% direct, 64.3% indirect, 9.9% pantaloon). The overall recurrence rate was 3.8%, with a mean time to recurrence of 12.0 ± 8.6 months. Risk factors for recurrence included contaminated wounds (odds ratio [OR] 50.325; p = 0.004), female gender (OR 8.757; p = 0.003) and pantaloon hernias (OR 5.059; p = 0.013). Complication rates were as follows: chronic pain syndrome (1.2%), hypoaesthesia (5.2%), wound dehiscence (0.4%), infection (0.6%), haematoma/seroma (4.8%), urinary retention (1.3%) and intraoperative visceral injury (0.6%). Most procedures were open repairs (67.7%), and laparoscopic repair constituted 32.3% of all the inguinal hernia repairs. Open repairs resulted in longer operating times than laparoscopic repairs (86.6 mins vs. 71.6 mins; p < 0.001), longer hospital stays (2.7 days vs. 0.7 days; p = 0.020) and a higher incidence of post-repair hypoaesthesia (6.8% vs. 1.8%; p = 0.018). However, there were no significant differences in recurrence or other complications between open and laparoscopic repair. CONCLUSION A general hospital with strict protocols and teaching methodologies can achieve inguinal hernia repair outcomes comparable to those of dedicated hernia centres. PMID:24763834

The incidence of secondary hernias diagnosed during laparoscopic total extraperitoneal inguinal herniorrhaphy.

PubMed

Woodward, A M; Choe, E U; Flint, L M; Ferrara, J J

1998-02-01

During a 24-month period beginning in July of 1995, laparoscopic total extraperitoneal inguinal herniorrhaphy was attempted in 53 patients. All procedures were performed at a single institution, by senior-level general surgery residents, with the same attending surgeon functioning as first assistant. Three patients required conversion to an "open" procedure (all had a prior history of herniorrhaphy or lower abdominal surgery), leaving 50 patients for analysis. Preoperatively, a unilateral hernia was evident on clinical grounds in 29 patients, the remaining 21 presenting with signs of a bilateral hernia; of the total, 11 had a history of prior hernia repair on the presently affected side. At surgery, a total of 115 hernia defects (indirect, direct, femoral) were identified, 38% of which were discovered only at the time of surgery. Sixty-four percent of patients were found to have at least one of these "secondary" hernias. After reduction of the hernia(s), all defects were covered with polypropylene mesh secured with spiral tacks. There were 10 perioperative complications, one of which required corrective surgical intervention. Over 70% of patients were discharged on the day of surgery; 92% returned home within 23 h of their operation. The most common reason for delay of hospital discharge was urinary retention. There have been no recurrences in short-term follow-up. Most patients were pleased with the recovery time from and the cosmetic results of their surgery. These results suggest that laparoscopic total extraperitoneal herniorrhaphy represents a safe, effective, cosmetically appealing alternative to open hernia repair. Moreover, this approach may provide an added advantage insofar as identifying additional hernia defects that, when repaired, may ultimately yield a lower recurrence rate than might otherwise have been expected.

Inguinal hernia repair: are the results from a general hospital comparable to those from dedicated hernia centres?

PubMed

Cheong, Kai Xiong; Lo, Hong Yee; Neo, Jun Xiang Andy; Appasamy, Vijayan; Chiu, Ming Terk

2014-04-01

We aimed to report the outcomes of inguinal hernia repair performed at Tan Tock Seng Hospital and compare them with those performed at dedicated hernia centres. We retrospectively analysed the medical records and telephone interviews of 520 patients who underwent inguinal hernia repair in 2010. The majority of the patients were male (498 [95.8%] men vs. 22 [4.2%] women). The mean age was 59.9 ± 15.7 years. Most patients (n = 445, 85.6%) had unilateral hernias (25.8% direct, 64.3% indirect, 9.9% pantaloon). The overall recurrence rate was 3.8%, with a mean time to recurrence of 12.0 ± 8.6 months. Risk factors for recurrence included contaminated wounds (odds ratio [OR] 50.325; p = 0.004), female gender (OR 8.757; p = 0.003) and pantaloon hernias (OR 5.059; p = 0.013). Complication rates were as follows: chronic pain syndrome (1.2%), hypoaesthesia (5.2%), wound dehiscence (0.4%), infection (0.6%), haematoma/seroma (4.8%), urinary retention (1.3%) and intraoperative visceral injury (0.6%). Most procedures were open repairs (67.7%), and laparoscopic repair constituted 32.3% of all the inguinal hernia repairs. Open repairs resulted in longer operating times than laparoscopic repairs (86.6 mins vs. 71.6 mins; p < 0.001), longer hospital stays (2.7 days vs. 0.7 days; p = 0.020) and a higher incidence of post-repair hypoaesthesia (6.8% vs. 1.8%; p = 0.018). However, there were no significant differences in recurrence or other complications between open and laparoscopic repair. A general hospital with strict protocols and teaching methodologies can achieve inguinal hernia repair outcomes comparable to those of dedicated hernia centres.

Preperitoneal Surgery Using a Self-Adhesive Mesh for Inguinal Hernia Repair

PubMed Central

Oguntodu, Olakunle F.; Rodriguez, Francisco; Rassadi, Roozbeh; Haley, Michael; Shively, Cynthia J.; Dzandu, James K.

2014-01-01

Background and Objectives: Laparoscopic preperitoneal hernia repair with mesh has been reported to result in improved patient outcomes. However, there are few published data on the use of a totally extraperitoneal (TEP) approach. The purpose of this study was to present our experience and evaluate early outcomes of TEP inguinal hernia repair with self-adhesive mesh. Methods: This cohort study was a retrospective review of patients who underwent laparoscopic TEP inguinal hernial repair from April 4, 2010, through July 22, 2014. Data assessed were age, sex, body mass index (BMI), hernia repair indications, hernia type, pain, paresthesia, occurrence (bilateral or unilateral), recurrence, and patient satisfaction. Descriptive and regression analyses were performed. Results: Six hundred forty patients underwent laparoscopic preperitoneal hernia surgery with self-adhesive mesh. The average age was 56 years, nearly all were men (95.8%), and the mean BMI was 26.2 kg/m2. Cases involved primary hernia more frequently than recurrent hernia (94% vs 6%; P < .05). After surgery, 92% of the patients reported no more than minimal pain, <1% reported paresthesia, and 0.2% had early recurrence. There were 7 conversions to an open procedure. The patients had no adverse reactions to anesthesia and no bladder injury. Postoperative acute pain or recurrence was not explained by demographics, BMI, or preoperative pain. There were significant associations of hernia side, recurrence, occurrence, and sex with composite end points. Nearly all patients (98%) were satisfied with the outcome. Conclusion: The use of self-adhesive, Velcro-type mesh in laparoscopic TEP inguinal hernia repair is associated with reduced pain; low rates of early recurrence, infection, and hematoma; and improved patient satisfaction. PMID:25587212

A case of unilateral, systematized linear hair follicle nevi associated with epidermal nevus-like lesions.

PubMed

Ikeda, Shigaku; Kawada, Juri; Yaguchi, Hitoshi; Ogawa, Hideoki

2003-01-01

Multiple hair follicle nevi are an extremely rare condition. In 1998, a case of unilateral multiple hair follicle nevi, ipsilateral alopecia and ipsilateral leptomeningeal angiomatosis of the brain was first reported from Japan. Very recently, hair follicle nevus in a distribution following Blaschko's lines has also been reported. In this paper, we observed a congenital case of unilateral, systematized linear hair follicle nevi associated with congenital, ipsilateral, multiple plaque lesions resembling epidermal nevi but lacking leptomeningeal angiomatosis of the brain. These cases implicate the possibility of a novel neurocutaneous syndrome. Additional cases should be sought in order to determine whether this condition is pathophysiologically distinct. Copyright 2003 S. Karger AG, Basel

A Review of the Surgical Management of Perineal Hernias in Dogs.

PubMed

Gill, Sukhjit Singh; Barstad, Robert D

2018-05-14

Perineal hernia refers to the failure of the muscular pelvic diaphragm to support the rectal wall, resulting in herniation of pelvic and, occasionally, abdominal viscera into the subcutaneous perineal region. The proposed causes of pelvic diaphragm weakness include tenesmus associated with chronic prostatic disease or constipation, myopathy, rectal abnormalities, and gonadal hormonal imbalances. The most common presentation of perineal hernia in dogs is a unilateral or bilateral nonpainful swelling of the perineum. Clinical signs do occur, but not always. Clinical signs may include constipation, obstipation, dyschezia, tenesmus, rectal prolapse, stranguria, or anuria. The definitive diagnosis of perineal hernia is based on clinical signs and findings of weak pelvic diaphragm musculature during a digital rectal examination. In dogs, perineal hernias are mostly treated by surgical intervention. Appositional herniorrhaphy is sometimes difficult to perform as the levator ani and coccygeus muscles are atrophied and unsuitable for use. Internal obturator muscle transposition is the most commonly used technique. Additional techniques include superficial gluteal and semitendinosus muscle transposition, in addition to the use of synthetic implants and biomaterials. Pexy techniques may be used to prevent rectal prolapse and bladder and prostate gland displacement. Postoperative care involves analgesics, antibiotics, a low-residue diet, and stool softeners.

Laparoscopy to evaluate scrotal edema during peritoneal dialysis.

PubMed

Haggerty, Stephen P; Jorge, Juaquito M

2013-01-01

Acute scrotal edema is an infrequent complication in patients who undergo continuous ambulatory peritoneal dialysis (CAPD), occurring in 2% to 4% of patients. Inguinal hernia is usually the cause, but the diagnosis is sometimes confusing. Imaging modalities such as computed tomographic peritoneography are helpful but can be equivocal. We have used diagnostic laparoscopy in conjunction with open unilateral or bilateral hernia repair for diagnosis and treatment of peritoneal dialysis (PD) patients with acute scrotal edema. TECHNIQUE AND CASES: Three patients with acute scrotal edema while receiving CAPD over the span of 7 years had inconclusive results at clinical examination and on diagnostic imaging. All patients underwent diagnostic laparoscopy that revealed indirect inguinal hernia, which was concomitantly repaired using an open-mesh technique. Diagnostic laparoscopy revealed the etiology of the scrotal edema 100% of the time, with no complications, and allowed concomitant repair of the hernia. One patient had postoperative catheter outflow obstruction, which was deemed to be unrelated to the hernia repair. Diagnostic laparoscopy is helpful in confirming the source of acute scrotal edema in CAPD patients and can be performed in conjunction with an open-mesh repair with minimal added time or risk.

The effect of in vitro tracheal occlusion on branching morphogenesis in fetal lung explants from the rat nitrofen model of congenital diaphragmatic hernia.

PubMed

Grushka, Jeremy R; Al-Abbad, Saleh; Baird, Robert; Puligandla, Pramod; Kaplan, Feige; Laberge, Jean-Martin

2010-05-01

Fetal tracheal occlusion (TO) has been investigated as a treatment option for lung hypoplasia secondary to congenital diaphragmatic hernia. Tracheal occlusion has been shown to accelerate lung growth, but its effect on bronchial branching is unknown. In this study, we characterize the effects of in vitro TO on bronchial branch development in fetal lung explants derived from the nitrofen rat model of congenital diaphragmatic hernia. Rat dams were gavaged nitrofen on gestational day 9.5, and fetal lungs were harvested for explant culture on gestational day 14 (term, 22 days). Four experimental groups were investigated, with TO performed ex vivo using cautery: control, control + TO, nitrofen, and nitrofen + TO. Explants were incubated for 72 hours. Representative photographs were taken at 0, 24, 48, and 72 hours from the time of culture, and the number of distal branches was counted for each explant. The Student t test was used to compare distal branch measurements. A minimum of 12 fetal lung explants were cultured for each group. By 24 hours, all explants undergoing TO had more branch iterations than explants that did not. Moreover, TO in nitrofen-exposed explants increased bronchial branching to control levels by 24 hours in culture. Our results suggest that TO at day 14 increases branching in normal and nitrofen-exposed lung explants. In addition, TO increases airway branching in nitrofen-exposed explants to control levels suggesting that early TO reverses the lung hypoplasia seen in this model. Copyright (c) 2010 Elsevier Inc. All rights reserved.

Effect of cooled hyperbaric bupivacaine on unilateral spinal anesthesia success rate and hemodynamic complications in inguinal hernia surgery.

PubMed

Tomak, Yakup; Erdivanli, Basar; Sen, Ahmet; Bostan, Habib; Budak, Ersel Tan; Pergel, Ahmet

2016-02-01

We hypothesized that cooling hyperbaric bupivacaine from 23 to 5 °C may limit the intrathecal spread of bupivacaine and therefore increase the success rate of unilateral spinal anesthesia and decrease the rate of hemodynamic complications. A hundred patients scheduled for elective unilateral inguinal hernia surgery were randomly allocated to receive 1.8 ml of 0.5 % hyperbaric bupivacaine intrathecally at either 5 °C (group I, n = 50) or at 23 °C (group II, n = 50). Following spinal block at the L2-3 interspace, the lateral decubitus position was maintained for 15 min. Unilateral spinal anesthesia was assessed and confirmed at 15 and 30 min. The levels of sensory and motor block on the operative side were evaluated until complete resolution. The rate of unilateral spinal anesthesia at 15 and 30 min was significantly higher in group I (p = 0.015 and 0.028, respectively). Hypotensive events and bradycardia were significantly rarer in group I (p = 0.014 and 0.037, respectively). The density and viscosity of the solution at 5 °C was significantly higher than at 23 °C (p < 0.0001). Compared with group II, sensory block peaked later in group I (17.4 vs 12.6 min) and at a lower level (T9 vs T7), and two-segment regression of sensory block (76.4 vs 84.3 min) and motor block recovery was shorter (157.6 vs 193.4 min) (p < 0.0001). Cooling of hyperbaric bupivacaine to 5 °C increased the density and viscosity of the solution and the success rate of unilateral spinal anesthesia, and decreased the hemodynamic complication rate.

A national trainee-led audit of inguinal hernia repair in Scotland.

PubMed

O'Neill, S; Robertson, A G; Robson, A J; Richards, C H; Nicholson, G A; Mittapalli, D

2015-10-01

This audit assessed inguinal hernia surgery in Scotland and measured compliance with British Hernia Society Guidelines (2013), specifically regarding management of bilateral and recurrent inguinal hernias. It also assessed the feasibility of a national trainee-led audit, evaluated regional variations in practise and gauged operative exposure of trainees. A prospective audit of adult inguinal hernia repairs across every region in Scotland (30 hospitals in 14 NHS boards) over 2-weeks was co-ordinated by the Scottish Surgical Research Group (SSRG). 235 patients (223 male, median age 61) were identified and 96 % of cases were elective. Anaesthesia was 91 % general, 5 % spinal and 3 % local. Prophylactic antibiotics were administered in 18 %. Laparoscopic repair was used in 33 % (30 % trainee-performed). Open repair was used in 67 % (42 % trainee-performed). Elective primary bilateral hernia repairs were laparoscopic in 97 % while guideline compliance for an elective recurrence was 77 %. For elective primary unilateral hernias, the use of laparoscopic repair varied significantly by region (South East 43 %, North 14 %, East 7 % and West 6 %, p < 0.001) as did repair under local anaesthesia for open cases (North 21 %, South East 4 %, West 2 % and East 0 %, p = 0.001). Trainees independently performed 9 % of procedures. There were no significant differences in trainee or unsupervised trainee operator rates between laparoscopic and open cases. Mean hospital stay was 0.7-days with day case surgery performed in 69 %. This trainee-lead audit provides a contemporary view of inguinal hernia surgery in Scotland. Increased compliance on recurrent cases appears indicated. National re-audit could ensure improved adherence and would be feasible through the SSRG.

Unilateral Ankylosis of Temporomandibular Joint (TMJ) with Contralateral Condylar Aplasia and Related Orthopedic Deformity – Syndromic or Nonsyndromic?

PubMed Central

Vijay, Pradkhshana; Sunil, VSB; Bajpai, Manas; Chhibber, Neha

2015-01-01

Condylar aplasia which means “failure of development” is a rare condition and can be unilateral or bilateral. Mandibular condylar Aplasia without any association with syndrome is extremely rare. Temporomandibular joint (TMJ) ankylosis results from trauma, infection and inadequate surgical treatment of the condylar area. Congenital cases are very rare. We report case of congenital unilateral aplasia of left mandibular condyle with ankylosis of right condyle, with an associated orthopedic deformity in a nine-year-old male patient, which may be a part of some unreported syndrome that has not been mentioned so far in literature. As per our best knowledge, no other case including such clinical features has been reported. PMID:25738097

Diaphragmatic hernia repair - congenital

MedlinePlus

... how well the lungs are working. A light sensor (called a pulse oximeter) is taped to baby's skin to monitor the oxygen level in the blood. Your baby may be given medicines to control blood pressure and keep them comfortable. Your baby will have ...

Early development of the primordial mammalian diaphragm and cellular mechanisms of nitrofen-induced congenital diaphragmatic hernia.

PubMed

Clugston, Robin D; Zhang, Wei; Greer, John J

2010-01-01

Congenital diaphragmatic hernia (CDH) is a frequently occurring cause of neonatal respiratory distress and is associated with high mortality and long-term morbidity. Evidence from animal models suggests that CDH has its origins in the malformation of the pleuroperitoneal fold (PPF), a key structure in embryonic diaphragm formation. The aims of this study were to characterize the embryogenesis of the PPF in rats and humans, and to determine the potential mechanism that leads to abnormal PPF development in the nitrofen model of CDH. Analysis of rat embryos, and archived human embryo sections, allowed the timeframe of PPF formation to be determined for both species, thus delineating a critical period of diaphragm development in relation to CDH. Experiments on nitrofen-exposed NIH 3T3 cells in vitro led us to hypothesize that nitrofen might cause diaphragmatic hernia in vivo by two possible mechanisms: through decreased cell proliferation or by inducing apoptosis. Data from nitrofen-exposed rat embryos indicates that the primary mechanism of nitrofen teratogenesis in the PPF is through decreased cell proliferation. This study provides novel insight into the embryogenesis of the PPF in rats and humans, and it indicates that impaired cell proliferation might contribute to abnormal diaphragm development in the nitrofen model of CDH. Copyright 2009 Wiley-Liss, Inc.

Radiographic findings in late-presenting congenital diaphragmatic hernia: helpful imaging findings.

PubMed

Muzzafar, Sofia; Swischuk, Leonard E; Jadhav, Siddharth P

2012-03-01

Imaging findings in delayed presentation of congenital diaphragmatic hernia can be confusing and misleading, resulting in a delay in diagnosis. To evaluate the often puzzling plain film findings of late-presenting CDH in an effort to determine whether any of the findings could be helpful in arriving at an early diagnosis. We reviewed and documented the plain film findings and clinical data in eight patients seen during the last 20 years with late-presenting CDH. IRB exempt status was obtained in this study. There were five boys and three girls. The age range was 4 months to 12 years with a mean of 2.4 years. Five children presented with acute respiratory problems while three presented with acute abdominal pain. Two children presented with both respiratory and abdominal findings and one also presented with hematemesis. Two children had radiographic findings that were not difficult to analyze while the remaining six had findings that posed initial diagnostic problems. Although not common, late-presenting CDH can result in confusing plain film radiographic findings and a delay in diagnosis. We found that the most important finding in analyzing these radiographs is in evaluating the location and position of the gastric bubble with the more common left-side hernias.

Presentation and Treatment of Poland Anomaly.

PubMed

Buckwalter V, Joseph A; Shah, Apurva S

2016-12-01

Background: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral pectoral muscle agenesis and ipsilateral hand deformity. Methods: A comprehensive review of the medical literature on Poland anomaly was performed using a Medline search. Results: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral, simple syndactyly with ipsilateral limb hypoplasia and pectoralis muscle agenesis. Operative management of syndactyly in Poland anomaly is determined by the severity of hand involvement and the resulting anatomical dysfunction. Syndactyly reconstruction is recommended in all but the mildest cases because most patients with Poland anomaly have notable brachydactyly, and digital separation can improve functional length. Conclusions: Improved understanding the etiology and presentation of Poland anomaly can improve clinician recognition and management of this rare congenital condition.

Simple maneuvers to reduce the incidence of false-negative findings for contralateral patent processus vaginalis during laparoscopic hernia repair in children: a comparative study between 2 cohorts.

PubMed

Tam, Yuk Him; Wong, Yuen Shan; Chan, Kin Wai; Pang, Kristine Kit Yi; Tsui, Siu Yan; Mou, Jennifer Wai Cheung; Sihoe, Jennifer Dart Yin; Lee, Kim Hung

2013-04-01

Transumbilical or transinguinal laparoscopic evaluation for contralateral patent processus vaginalis (CPPV) is commonly performed during laparoscopic or open hernia repair in children but may occasionally give false-negative findings. A retrospective study was conducted to compare 2 cohorts of children who underwent laparoscopic repair for clinically demonstrated unilateral inguinal hernia and evaluation for CPPV by transumbilical laparoscopy during the study periods of 2004 to 2007 (cohort 1) and 2008 to 2011 (cohort 2). Cohort 1 was a known historical cohort with CPPV being evaluated by laparoscopic inspection alone, whereas additional maneuvers were adopted in cohort 2. There were 395 and 564 patients in cohorts 1 and 2, respectively. There was no difference between the 2 cohorts in age of patients, sex distribution, laterality of clinically demonstrated inguinal hernia, and follow-up period at the time of data collection. More CPPV were diagnosed in cohort 2 than cohort 1(36.2% vs 25.8%; P < .01). 4 children (1.4%) developed metachronous inguinal hernia following negative laparoscopic evaluation for CPPV in cohort 1 compared with none from cohort 2 at a similar median follow-up period (P < .05). The additional maneuvers appear to be superior to laparoscopic inspection alone to evaluate CPPV during laparoscopic hernia repair in children. Copyright © 2013 Elsevier Inc. All rights reserved.

Persistent Mullerian duct syndrome with transverse testicular ectopia and seminoma.

PubMed

Alp, Bilal Fırat; Demirer, Zafer; Gürağaç, Ali; Babacan, Oğuzhan; Sarı, Erkan; Sarı, Sebahattin; Yavan, Ibrahim

2014-08-01

Persistent Mullerian duct syndrome (PMDS) is a rare form of the 46 XY disorders of sexual differentiation, characterized by the presence of a uterus and fallopian tubes due to the failure of Mullerian duct regression in genotypically normal males. More than 150 cases have been recorded, most of them in adults. In most cases, the PMDS is discovered during surgery for inguinal hernia or cryptorchidism, or by the presence of transverse testicular ectopia (TTE). The presence of PMDS with TTE is even more uncommon. In TTE, both testes descend through the same inguinal canal into the same scrotal sac. Patients with TTE present with symptoms of unilateral cryptorchidism and a contralateral inguinal hernia. For patients with inguinal hernia and cryptorchidism associated with TTE, PMDS should be kept in mind, and radiologic evaluation such as ultrasonography or magnetic resonance imaging of the genitourinary system and karyotyping are recommended. Whereas radiologic evaluation could be helpful in the diagnosis of TTE, it cannot diagnose the malignancy itself. The case explained in this report will offer urologists additional useful treatment strategies for patients with inguinal hernia and cryptorchidism.

A resolution designating March 31, 2010, as "National Congenital Diaphragmatic Hernia Awareness Day".

THOMAS, 111th Congress

Sen. Vitter, David [R-LA

2009-06-24

Senate - 04/14/2010 Resolution agreed to in Senate without amendment and with a preamble by Unanimous Consent. (All Actions) Tracker: This bill has the status Agreed to in SenateHere are the steps for Status of Legislation:

Spontaneous thrombosis of congenital extrahepatic portosystemic shunt (Abernethy malformation) simulating inguinal hernia incarceration.

PubMed

Afzal, Samara; Nair, Amit; Grainger, Jennie; Latif, Sherif; Rehman, Atiq-ur

2010-08-01

Tender lumps in the inguinal region are often explored emergently to treat suspected hernial strangulation. We discuss the case of an adult male who presented acutely with a tender inguinal swelling and raised inflammatory markers and was therefore deemed as requiring surgical exploration. However preoperative abdominal computerized tomography (CT) revealed an extensive thrombosing congenital venous malformation of portosystemic origin with extension into the symptomatic inguinal canal. A potentially lethal exsanguination from surgery was thus avoided.

Incidence, predictors and outcomes of congenital diaphragmatic hernia: a population-based study of 32 million births in the United States.

PubMed

Balayla, Jacques; Abenhaim, Haim A

2014-09-01

To evaluate the incidence, risk factors and neonatal outcomes associated with a congenital diaphragmatic hernia (CDH). We conducted a population-based cohort study using the CDC's Linked Birth-Infant Death and Fetal Death data files on all births and foetal deaths in USA between 1995 and 2002. We estimated the yearly incidence of CDH and measured its adjusted effect on various outcomes using unconditional logistic regression analysis. About 32,145,448 births during the 8-year study period met the study's inclusion criteria. The incidence of CDH was 1.93/10,000 births. Risk factors for the development of CDH included foetal male gender [OR 1.12, 95% CI: 1.06, 1.17], maternal age beyond 40 [OR 1.51, 95% CI: 1.26, 1.80], Caucasian ethnicity [OR 1.15, 95% CI: 1.10, 1.21], smoking [OR 1.34, 95% CI: 1.22, 1.46] and alcohol use during pregnancy [OR 1.37, 95% CI: 1.05, 1.79]. As compared to foetuses with no CDH, foetuses with CDH were at an increased risk of preterm birth [OR 2.90, 95% CI: 2.72, 3.11], intrauterine growth restriction [OR 3.84, 95% CI: 3.51, 4.18], stillbirth [OR 9.65, 95% CI: 8.20, 11.37] and overall infant death [OR: 94.80, 95% CI: 88.78, 101.23]. The 1-year mortality was 45.89%. Congenital diaphragmatic hernia is strongly associated with an increased risk of adverse pregnancy, foetal and neonatal outcomes. These findings may be helpful in counselling pregnancies affected by CDH, and may aid in the understanding of the burden of this condition at the public health level.

Monaural Congenital Deafness Affects Aural Dominance and Degrades Binaural Processing

PubMed Central

Tillein, Jochen; Hubka, Peter; Kral, Andrej

2016-01-01

Cortical development extensively depends on sensory experience. Effects of congenital monaural and binaural deafness on cortical aural dominance and representation of binaural cues were investigated in the present study. We used an animal model that precisely mimics the clinical scenario of unilateral cochlear implantation in an individual with single-sided congenital deafness. Multiunit responses in cortical field A1 to cochlear implant stimulation were studied in normal-hearing cats, bilaterally congenitally deaf cats (CDCs), and unilaterally deaf cats (uCDCs). Binaural deafness reduced cortical responsiveness and decreased response thresholds and dynamic range. In contrast to CDCs, in uCDCs, cortical responsiveness was not reduced, but hemispheric-specific reorganization of aural dominance and binaural interactions were observed. Deafness led to a substantial drop in binaural facilitation in CDCs and uCDCs, demonstrating the inevitable role of experience for a binaural benefit. Sensitivity to interaural time differences was more reduced in uCDCs than in CDCs, particularly at the hemisphere ipsilateral to the hearing ear. Compared with binaural deafness, unilateral hearing prevented nonspecific reduction in cortical responsiveness, but extensively reorganized aural dominance and binaural responses. The deaf ear remained coupled with the cortex in uCDCs, demonstrating a significant difference to deprivation amblyopia in the visual system. PMID:26803166

Monaural Congenital Deafness Affects Aural Dominance and Degrades Binaural Processing.

PubMed

Tillein, Jochen; Hubka, Peter; Kral, Andrej

2016-04-01

Cortical development extensively depends on sensory experience. Effects of congenital monaural and binaural deafness on cortical aural dominance and representation of binaural cues were investigated in the present study. We used an animal model that precisely mimics the clinical scenario of unilateral cochlear implantation in an individual with single-sided congenital deafness. Multiunit responses in cortical field A1 to cochlear implant stimulation were studied in normal-hearing cats, bilaterally congenitally deaf cats (CDCs), and unilaterally deaf cats (uCDCs). Binaural deafness reduced cortical responsiveness and decreased response thresholds and dynamic range. In contrast to CDCs, in uCDCs, cortical responsiveness was not reduced, but hemispheric-specific reorganization of aural dominance and binaural interactions were observed. Deafness led to a substantial drop in binaural facilitation in CDCs and uCDCs, demonstrating the inevitable role of experience for a binaural benefit. Sensitivity to interaural time differences was more reduced in uCDCs than in CDCs, particularly at the hemisphere ipsilateral to the hearing ear. Compared with binaural deafness, unilateral hearing prevented nonspecific reduction in cortical responsiveness, but extensively reorganized aural dominance and binaural responses. The deaf ear remained coupled with the cortex in uCDCs, demonstrating a significant difference to deprivation amblyopia in the visual system. © The Author 2016. Published by Oxford University Press.

Combined open and laparoscopic approach to chronic pain following open inguinal hernia repair.

PubMed

Rosen, M J; Novitsky, Y W; Cobb, W S; Kercher, K W; Heniford, B Todd

2006-03-01

Chronic groin pain is the most common long-term complication after open inguinal hernia repair. Traditional surgical management of the associated neuralgia consists of injection therapy followed by groin exploration, mesh removal, and nerve transection. The resultant hernia defect may be difficult to repair from an anterior approach. We evaluate the outcomes of a combined laparoscopic and open approach for the treatment of chronic groin pain following open inguinal herniorrhaphy. All patients who underwent groin exploration for chronic neuralgia after a prior open inguinal hernia repair were prospectively analyzed. Patient demographics, type of prior hernia repair, and prior nonoperative therapies were recorded. The operation consisted of a standard three trocar laparoscopic transabdominal preperitoneal hernia repair, followed by groin exploration, mesh removal, and nerve transection. Outcome measures included recurrent groin pain, numbness, hernia recurrence, and complications. Twelve patients (11 male and 1 female) with a mean age of 41 years (range 29-51) underwent combined laparoscopic and open treatment for chronic groin pain. Ten patients complained of unilateral neuralgia, one patient had bilateral complaints, and one patient complained of orchalgia. All patients failed at least two attempted percutaneous nerve blocks. Prior repairs included Lichtenstein (n=9), McVay (n=1), plug and patch (n=1), and Shouldice (n=1). There were no intraoperative complications or wound infections. With a minimum of 6 weeks follow up, all patients were significantly improved. One patient complained of intermittent minor discomfort that required no further therapy. Two patients had persistent numbness in the ilioinguinal nerve distribution but remained satisfied with the procedure. A combined laparoscopic and open approach for postherniorrhaphy groin pain results in good to excellent patient satisfaction with no perioperative morbidity. It may be the preferred technique for the definitive management of chronic neuralgia after prior open hernia repair.

Late diagnosis and surgical treatment of patients diagnosed with unilateral congenital cataract at Fundación Visión, in Asuncion, Paraguay.

PubMed

Zegarra, Manuel; Burga, Gisella Harumi; Lansingh, Van; Samudio, Margarita; Duarte, Edgar; Ferreira, Rocio; Dorantes, Yesenia; Ginés, Juan Carlos; Zepeda, Luz

2014-10-01

Purpose: Providing data on the late diagnosis and surgical treatment of patients who underwent surgery for total unilateral congenital cataract. Methods: Systematic retrospective review of the medical record of all patients between 0 and 16 years old with total unilateral congenital cataract who underwent surgery at Fundación Vision between January 2010 and July 2012. Results: Medical records of 37 patients (51 % females) were studied, age was 7.4 (± 4.9) years (average ± SD) and 62% lived on Departamento Central (the most populated region from Paraguay). A total of 97.3% patients underwent late surgical treatment and 86.5% received a late diagnosis. The average time elapsed between the diagnosis and the surgical treatment was one month, and 62.2% of the patients underwent surgery within six months from the diagnosis. Conclusion: This study evidences that most of the patients in our series had a late treatment as a result of a late diagnosis. Based on these results we recommend establishing strategies to improve the early detection and surgical treatment of the newborns.

A resolution designating April 2013 as "National Congenital Diaphragmatic Hernia Awareness Month".

THOMAS, 113th Congress

Sen. Sessions, Jeff [R-AL

2013-03-20

Senate - 03/20/2013 Submitted in the Senate, considered, and agreed to without amendment and with a preamble by Unanimous Consent. (All Actions) Tracker: This bill has the status Agreed to in SenateHere are the steps for Status of Legislation:

A resolution designating April 2014 as "National Congenital Diaphragmatic Hernia Awareness Month".

THOMAS, 113th Congress

Sen. Sessions, Jeff [R-AL

2014-04-07

Senate - 04/07/2014 Submitted in the Senate, considered, and agreed to without amendment and with a preamble by Unanimous Consent. (All Actions) Tracker: This bill has the status Agreed to in SenateHere are the steps for Status of Legislation:

[Prevalence of selected congenital anomalies in the Czech Republic: congenital anomalies of the central nervous system and gastrointestinal tract].

PubMed

Šípek, A; Gregor, V; Horáček, J; Šípek, A; Klaschka, J; Malý, M

2015-03-01

Analysis of the prevalence of selected congenital anomalies in the Czech Republic in 1994-2009. Retrospective epidemiological analysis of the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic. Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used. The analysis was carried out for the entire Czech Republic, based on the data from 1994 to 2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres and laboratories in the Czech Republic. This study analyzed the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies. More detailed analysis was carried out for the following diagnoses: anencephaly, spina bifida, encephalocoele, congenital hydrocephalus, omphalocoele, gastroschisis, oesophageal atresia and stenosis, anorectal anomalies, and diaphragmatic hernia. Prevalence trends were analysed using Poisson regression. In 2009, a total of 118 348 live births were recorded in the Czech Republic, 60 368 boys and 57 980 girls. Of this total, 4 653, i.e. 2 745 boys and 1 908 girls, were diagnosed with congenital anomalies. In 2007-2009, the total of life births with congenital anomalies ranged between 4.6 and 4.8 thousand per year. The respective ranges in this three-year period were in the order of 2.7 and 2.8 thousand per year for boys and 1.9 thousand per year for girls. The prevalence of postnatally diagnosed anencephaly was minimal, as most cases were diagnosed prenatally, and the data did not vary significantly. The prevalence of postnatally diagnosed cases remained at the same level. The effectiveness of the prenatal diagnosis of spina bifida increased and thus the prevalence of postnatally diagnosed cases decreased. The prevalence of prenatally diagnosed encephalocoele increased and that of postnatally diagnosed cases varied between years, with no clear trend. The prevalence of omphalocoele varied for both prenatally and postnatally diagnosed cases; nevertheless, the effectiveness of prenatal diagnosis of this defect increases. The prevalence of gastroschisis remained unchanged, but the number of live births with this diagnosis showed a non-significant upward trend. If the trend reflects the real situation, it could be a result of a changed approach to prenatal diagnosis due to advances in corrective surgery of this defect. The prevalence of live births with congenital hydrocephalus showed a downward trend in the second half of the period 1994-2009 thanks to the improved diagnosis. The prevalence rates of live births with congenital esophageal and anorectal anomalies were slightly increasing. The prevalence of congenital diaphragmatic hernia varied between years but the overall prevalence appeared to be slightly increasing. The prevalence of some congenital anomalies (spina bifida, omphalocoele, and congenital hydrocephalus) showed a downward trend over the study period 1994-2009, mainly as a result of effective prenatal diagnosis. The prevalence of other congenital anomalies such as anencephaly or encephalocoele remained unchanged in live births. As for anencephaly, postnatally diagnosed cases were rare as the prenatal diagnosis was close to 100 %. The trend in encephalocoele is explained by the low incidence of this diagnosis in the population. The third group of postnatally diagnosed congenital anomalies such as gastroschisis or esophageal and anorectal anomalies were on the rise. As for gastroschisis, the reason was the changed approach to prenatal diagnosis due to good prognosis of this operable defect. The prevalence of congenital esophageal and anorectal anomalies varied between years, with a slowly increasing trend, similarly to diaphragmatic hernia.

Fetal Cardiac Impairment in Nitrofen-Induced Congenital Diaphragmatic Hernia: Postmortem Microcomputed Tomography Imaging Study.

PubMed

Pelizzo, Gloria; Calcaterra, Valeria; Lombardi, Claudio; Bussani, Rossana; Zambelli, Vanessa; De Silvestri, Annalisa; Custrin, Ana; Belgrano, Manuel; Zennaro, Floriana

2017-08-01

We assessed the post-mortem micro-CT utility to evaluate fetal cardiac impairment in nitrofen-induced congenital diaphragmatic hernia (CDH). At 9.5d postconception (dpc), pregnant rats were exposed to nitrofen. At +18 and +21dpc, fetuses were harvested by cesarean section. Postmortem micro-CT and autopsy were performed. Fetuses were assigned to three experimental groups: Control group (C), Nitrofen group (N, exposition to nitrofen without CDH), CDH group. Cardio-pulmonary indices were evaluated. An accurate morphological evaluation of the lung and heart was obtained. Early cardiac impairment was present in the N and CDH groups. At term pregnancy, an increased maximum diameter and decreased minimum diameter of the ventricles and increased interventricular septal thickness were noted in CDH. Histology showed a myocardial "disarray" and an high density of mitotic myocytes in CDH at midgestation. The potential utility of post-mortem fetal micro-CT examination in CDH was introduced. The results highlighted the presence of cardiac adaptation in affected fetuses.

Thoracic meningocele in lumbo-costo-vertebral syndrome in a child: possible enlargement with repeated motion by anchoring to the diaphragm.

PubMed

Wataya, Takafumi; Horikawa, Kyohei; Kitagawa, Masashi; Tashiro, Yuzuru

2016-08-01

Lumbo-costo-vertebral syndrome (LCVS) is a rare disorder in children that is characterized by hemivertebrae, congenital absence of ribs, meningocele, and hypoplasia of the truncal and abdominal wall presenting as a congenital lumbar hernia. An otherwise healthy 12-month-old girl was referred to the authors' hospital with soft swelling on her left middle back; scoliosis had been present since birth. Imaging revealed a thoracic meningocele, ectopia of the spleen suggesting lumbar hernia, multiple anomalies of the thoracic vertebral columns, and defects of the ribs; thus, LCVS was diagnosed. Surgical observation revealed that the meningocele was firmly anchored to part of the diaphragm, which created stretching tension in the meningocele continuously with exhalation. Once detached, the meningocele shrank spontaneously and never developed again after cauterization. In this case, continuous or pulsatile pressure in the presence of a vertebral defect was thus considered to be an important factor for formation of the thoracic meningocele.

Reduced oxygen concentration for the resuscitation of infants with congenital diaphragmatic hernia.

PubMed

Riley, John S; Antiel, Ryan M; Rintoul, Natalie E; Ades, Anne M; Waqar, Lindsay N; Lin, Nan; Herkert, Lisa M; D'Agostino, Jo Ann; Hoffman, Casey; Peranteau, William H; Flake, Alan W; Adzick, N Scott; Hedrick, Holly L

2018-06-11

To evaluate whether infants with congenital diaphragmatic hernia (CDH) can be safely resuscitated with a reduced starting fraction of inspired oxygen (FiO 2 ) of 0.5. A retrospective cohort study comparing 68 patients resuscitated with starting FiO 2 0.5 to 45 historical controls resuscitated with starting FiO 2 1.0. Reduced starting FiO 2 had no adverse effect upon survival, duration of intubation, need for ECMO, duration of ECMO, or time to surgery. Furthermore, it produced no increase in complications, adverse neurological events, or neurodevelopmental delay. The need to subsequently increase FiO 2 to 1.0 was associated with female sex, lower gestational age, liver up, lower lung volume-head circumference ratio, decreased survival, a higher incidence of ECMO, longer time to surgery, periventricular leukomalacia, and lower neurodevelopmental motor scores. Starting FiO 2 0.5 may be safe for the resuscitation of CDH infants. The need to increase FiO 2 to 1.0 during resuscitation is associated with worse outcomes.

One trocar needlescopic assisted inguinal hernia repair in children: a novel technique.

PubMed

Shalaby, Rafik; Elsayaad, Ibrahim; Alsamahy, Omar; Ibrahem, Refaat; El-Saied, Adham; Ismail, Maged; Shamseldin, Abdelmoniem; Shehata, Sameh; Magid, Mohamad

2017-08-31

Inguinal hernia repair using a percutaneous internal ring suturing technique is an effective alternative technique to conventional laparoscopic hernia repair. It is one of the most commonly used approaches for laparoscopic hernia repair in children. However, most percutaneous techniques have utilized extracorporeal knotting of the suture and burying the knot subcutaneously. This approach has several drawbacks. The aim of this study is to present a modified technique for single cannula needlescopic assisted hernia repair in children. Three-hundred and fifty-seven patients with 397 indirect inguinal hernias underwent a one port needlescopic assisted inguinal hernia repair. The open internal inguinal ring [IIR] was closed using an 18-gauge epidural needle [EN], a 14-gauge venous access cannula [VAC], and a homemade suture device. Saline was injected extraperitoneally around the IIR for hydrodissection. The main outcome measurements were: feasibility, safety of the technique, operative time, recurrence rate, and cosmetic results. This prospective study was conducted on 357 patients at Al-Azhar, Alexandria, and Mansoura University Hospitals during the period from June 2012 to October 2015. There were 286 males and 71 females. The mean age was 2.6±1.3years (range=4months to 6years). One-hundred and ninety-eight patients presented with a right-sided inguinal hernia, 119 patients with a left-sided hernia, and 40 patients with bilateral inguinal hernia. The mean operative time was 12.6±1.7min (range=8-15min) for unilateral cases and 18.6±1.7min (range=14-20min) for the bilateral repairs. No wound complications or umbilical hernias developed. The mean follow-up period was 18.6±1.2months (range=11-36months). During the follow-up period, no recurrence was detected, and the scars were nearly invisible. This preliminary study shows that a single port needlescopic assisted hernia repair in infants and children is a very promising technique to achieve nearly scarless surgery. The procedure is very safe, rapid, easy to learn, and reproducible. Published by Elsevier Inc.

Presentation and Treatment of Poland Anomaly

PubMed Central

Buckwalter V, Joseph A.; Shah, Apurva S.

2016-01-01

Background: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral pectoral muscle agenesis and ipsilateral hand deformity. Methods: A comprehensive review of the medical literature on Poland anomaly was performed using a Medline search. Results: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral, simple syndactyly with ipsilateral limb hypoplasia and pectoralis muscle agenesis. Operative management of syndactyly in Poland anomaly is determined by the severity of hand involvement and the resulting anatomical dysfunction. Syndactyly reconstruction is recommended in all but the mildest cases because most patients with Poland anomaly have notable brachydactyly, and digital separation can improve functional length. Conclusions: Improved understanding the etiology and presentation of Poland anomaly can improve clinician recognition and management of this rare congenital condition. PMID:28149203

[Clinical and economic evaluation of laparoscopic surgery for inguinal hernia. Return of a difficult clinical choice].

PubMed

Bataille, N

2002-06-01

In the year 2000, the ANAES (National Agency for Accreditation and Evaluation of Health Care) published a technological and economic evaluation of the laparascopic approach to the repair of inguinal hernias based principally on the analysis of randomized studies. This analysis was all the more difficult because of the heterogeneity of the studies for which end results had a very weak level of proof. Laparascopic surgical techniques for inguinal hernia repair require the systematic use of mesh prosthesis and also general anesthesia. Published results are insufficient to compare specific laparascopic techniques with each other. The efficacy of laparoscopic repair compared to open repair with regard to hernia recurrence (the principal criteria of efficacy) has not been demonstrated--mainly because longterm results are not yet available. The overall evaluation of complications is too heterogeneous to show a difference between laparascopic and open surgery. There are, however, certain complications specific to laparascopic repair which, though rare, are potentially very serious. Excellent results reported with laparascopic repair may be due more to the systematic placement of mesh than-to to the approach itself--as has been shown in studies of open repairs "with tension" and "tension free." Superiority of the laparoscopic approach for specific types of hernia (primary unilateral, bilateral, recurrent) has not been demonstrated. Open surgery costs less than laparascopic hernia repair. The evaluation to date for laparascopic inguinal hernia repair is insufficient. Controlled studies with rigorous longterm follow-up and analysis of economic impact must be performed in comparable populations of patients.

Transabdominal preperitoneal laparoscopic inguinal herniorrhaphy: assessment of initial experience.

PubMed

Barry, M K; Donohue, J H; Harmsen, W S; Ilstrup, D M

1998-08-01

To evaluate our initial experience with laparoscopic inguinal herniorrhaphy. We retrospectively studied a consecutive series of patients selectively chosen for laparoscopic repair of inguinal hernia. The study cohort consisted of 173 patients treated by a single surgeon between 1992 and 1995. For all operations, a transabdominal approach was used. Follow-up was obtained by telephone contact or letter. The study group consisted of 167 male and 6 female patients with a mean age at operation of 55 years (range, 15 to 81). During the study period, 206 laparoscopic inguinal hernia repairs were performed in the 173 patients. Only one patient (0.6%) required conversion to laparotomy. Bilateral hernia repair was done in 31 patients (18%). Of the 206 procedures, 63 repairs (31%) were performed for recurrent hernias. In 69% of the patients, the procedure was completed on an outpatient basis. Early postoperative complications necessitating surgical intervention occurred in four patients. The median time to return to work or normal physical activity was 7 days for unilateral and 12 days for bilateral hernia repair (P = 0.18). A mean follow-up of 29 months was obtained for 171 patients (99%). In six patients (3%), a recurrent hernia developed. Four of these six patients had previously undergone an open surgical procedure on the side of the recurrence. Laparoscopic inguinal herniorrhaphy is a feasible alternative to open hernia repair. This operation, however, should be reserved for selected patients. Longer follow-up and controlled trials comparing laparoscopic and tension-free open herniorrhaphy are necessary for assessment of the relative benefits of this procedure.

Prenatal diagnosis of Jarcho-Levin syndrome in combination with inguinoscrotal hernia.

PubMed

Basaran, Ahmet; Deren, Ozgür; Onderoğlu, Lütfü S

2010-03-01

Jarcho-Levin syndrome is characterized by short trunk dwarfism associated with rib and vertebral anomalies. The syndrome encompasses a group of disorders with phenotypic and inheritance variations. Here we report a prenatally diagnosed patient with spondylocostal dysostosis (SCD) with accompanying congenital inguinoscrotal hernia. A 28-year-old pregnant women, gravida 4, para 3, was referred to our clinic with a diagnosis of wedging of fetal thoracal vertebra and kyphoscoliosis at 28 weeks of gestation. Upon evaluation, fetal vertebral wedging and kyphoscoliosis were confirmed with the addition of thoracic circumference below 3rd percentile, short thorax length, and mild pyelectasis. During follow-up, in utero inguinoscrotal hernia developed. Prenatal diagnosis of SCD is important to provide appropriate genetic counseling and to have an adequate setting for the delivery of the fetus. Thieme Medical Publishers.

Perioperative outcomes and complications of open vs laparoscopic extraperitoneal inguinal hernia repair in a mature surgical practice.

PubMed

Winslow, E R; Quasebarth, M; Brunt, L M

2004-02-01

Although the laparoscopic totally extraperitoneal (TEP) approach to hernia repair has been associated with less pain and a faster postoperative recovery than traditional open repair, many practicing surgeons have been reluctant to adopt this technique because of the lengthy operative times and the learning curve for this procedure. Data from all patients undergoing TEP repair since 1997 and open mesh repair (OPEN) since 1999 were collected prospectively. Selection of surgical approach was based on local hernia factors, anesthetic risk, previous abdominal surgery, and patient preference. Statistical analyses were performed using unpaired t-tests and chi-squared tests. Data are mean +/- SD. TEP repairs were performed in 147 patients and open repairs in 198 patients. Patients in the OPEN group were significantly older (59 +/- 19 years OPEN vs 51 +/- 13 years TEP) and had a higher ASA (1.9 +/- 0.7 OPEN vs 1.5 +/- 0.6 TEP; p < 0.01). TEP repairs were more likely to be carried out for bilateral (33% TEP, 5% OPEN) or recurrent hernias (31% TEP, 11% OPEN) than were open repairs ( p < 0.01). Concurrent procedures accompanied 31% of TEP and 12% of OPEN repairs ( p < 0.01). Operative times (min) were significantly shorter in the TEP group for both unilateral (63 +/- 22 TEP, 70 +/- 20 OPEN; p = 0.02) and bilateral (78 +/- 27 TEP, 102 +/- 27 OPEN; p = 0.01) repairs. Mean operative times decreased over time in the TEP group for both unilateral and bilateral repairs ( p < 0.01). Patients undergoing TEP were more likely ( p < 0.01) to develop urinary retention (7.9% TEP, 1.1% OPEN), but were less likely ( p < 0.01) to have skin numbness (2.8% TEP, 35.8% OPEN) or prolonged groin discomfort (1.4% TEP, 5.3% OPEN). Despite a higher proportion of patients undergoing bilateral repairs, recurrent hernia repair, and concurrent procedures, operative times are shorter for laparoscopic TEP repair than for open mesh repair. TEP repairs can be performed efficiently and without major complications, even when the learning curve is included.

Genome-wide association study reveals a QTL and strong candidate genes for umbilical hernia in pigs on SSC14.

PubMed

Grindflek, Eli; Hansen, Marianne H S; Lien, Sigbjørn; van Son, Maren

2018-05-29

Umbilical hernia is one of the most prevalent congenital defect in pigs, causing economic losses and substantial animal welfare problems. Identification and implementation of genomic regions controlling umbilical hernia in breeding is of great interest to reduce incidences of hernia in commercial pig production. The aim of this study was to identify such regions and possibly identify causative variation affecting umbilical hernia in pigs. A case/control material consisting of 739 Norwegian Landrace pigs was collected and applied in a GWAS study with a genome-wide distributed panel of 60 K SNPs. Additionally candidate genes were sequenced to detect additional polymorphisms that were used for single SNP and haplotype association analyses in 453 of the pigs. The GWAS in this report detected a highly significant region affecting umbilical hernia around 50 Mb on SSC14 (P < 0.0001) explaining up to 8.6% of the phenotypic variance of the trait. The region is rather broad and includes 62 significant SNPs in high linkage disequilibrium with each other. Targeted sequencing of candidate genes within the region revealed polymorphisms within the Leukemia inhibitory factor (LIF) and Oncostatin M (OSM) that were significantly associated with umbilical hernia (P < 0.001). A highly significant QTL for umbilical hernia in Norwegian Landrace pigs was detected around 50 Mb on SSC14. Resequencing of candidate genes within the region revealed SNPs within LIF and OSM highly associated with the trait. However, because of extended LD within the region, studies in other populations and functional studies are needed to determine whether these variants are causal or not. Still without this knowledge, SNPs within the region can be used as genetic markers to reduce incidences of umbilical hernia in Norwegian Landrace pigs.

Are all pulmonary hypoplasias the same? A comparison of pulmonary outcomes in neonates with congenital diaphragmatic hernia, omphalocele and congenital lung malformation.

PubMed

Akinkuotu, Adesola C; Sheikh, Fariha; Cass, Darrell L; Zamora, Irving J; Lee, Timothy C; Cassady, Christopher I; Mehollin-Ray, Amy R; Williams, Jennifer L; Ruano, Rodrigo; Welty, Stephen E; Olutoye, Oluyinka O

2015-01-01

Patients with congenital diaphragmatic hernias (CDH), omphaloceles, and congenital lung malformations (CLM) may have pulmonary hypoplasia and experience respiratory insufficiency. We hypothesize that given equivalent lung volumes, the degree of respiratory insufficiency will be comparable regardless of the etiology. Records of all fetuses with CDH, omphalocele, and CLM between January 2000 and June 2013 were reviewed. MRI-based observed-to-expected total fetal lung volumes (O/E-TFLV) were calculated. An analysis of outcomes in patients with O/E-TFLV between 40% and 60%, the most inclusive range, was performed. 285 patients were evaluated (161, CDH; 24, omphalocele; 100, CLM). Fetuses with CDH had the smallest mean O/E-TFLV. CDH patients were intubated for longer and had a higher incidence of pulmonary hypertension. Fifty-six patients with the three diagnoses had an O/E-TFLV of 40%-60%. The need for ECMO, supplemental oxygen at 30days of life, and 6-month mortality were similar among groups. CDH patients had a significantly longer duration of intubation and higher incidence of pulmonary hypertension than the other two diagnoses. Given equivalent lung volumes (40%-60% of expected), CDH patients require more pulmonary support initially than omphalocele and CLM patients. In addition to lung volumes, disease-specific factors, such as pulmonary hypertension in CDH, also contribute to pulmonary morbidity and overall outcome. Copyright © 2015 Elsevier Inc. All rights reserved.

Development of an Optimal Diaphragmatic Hernia Rabbit Model for Pediatric Thoracoscopic Training

PubMed Central

Pérez-Merino, Eva M.; Usón-Casaús, Jesús M.; Zaragoza-Bayle, Concepción; Rivera-Barreno, Ramón; Rodríguez-Alarcón, Carlos A.; Palme, Rupert; Sánchez-Margallo, Francisco M.

2014-01-01

Our objectives were to standarize the procedure needed to reproduce a similar surgical scene which a pediatric surgeon would face on repairing a Bochdalek hernia in newborns and to define the optimal time period for hernia development that achieve a realistic surgical scenario with minimimal animal suffering. Twenty New Zealand white rabbits weighing 3–3.5 kg were divided into four groups depending on the time frame since hernia creation to thoracoscopic repair: 48 h, 72 h, 96 h and 30 days. Bochdalek trigono was identified and procedures for hernia creation and thoracoscopic repair were standarized. Blood was collected for hematology (red blood cells, white blood cells, platelets, hemoglobin and hematocrit), biochemistry (blood urea nitrogen, creatinine, alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase and creatine kinase) and gas analysis (arterial blood pH, partial pressure of oxygen, partial pressure of carbón dioxide, oxygen saturation and bicarbonate) at baseline and before the surgial repairment. Glucocorticoid metabolites concentration in faeces was measured. Thoracoscopy video recordings were evaluated by six pediatric surgeons and rated from 0 to 10 according to similarities with congenital diaphragmatic hernia in newborn and with its thoracoscopic approach. Statistical methods included the analysis of variance, and comparisons between groups were followed by a post-hoc Tukey’s test. Fourty -eight h showed to be the optimal time frame to obtain a diaphragmatic hernia similar to newborn scenario from a surgical point of view with minimal stress for the animals. PMID:24521868

Congenital Diaphragmatic Hernia

PubMed Central

2012-01-01

Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted. PMID:22214468

Histogram based analysis of lung perfusion of children after congenital diaphragmatic hernia repair.

PubMed

Kassner, Nora; Weis, Meike; Zahn, Katrin; Schaible, Thomas; Schoenberg, Stefan O; Schad, Lothar R; Zöllner, Frank G

2018-05-01

To investigate a histogram based approach to characterize the distribution of perfusion in the whole left and right lung by descriptive statistics and to show how histograms could be used to visually explore perfusion defects in two year old children after Congenital Diaphragmatic Hernia (CDH) repair. 28 children (age of 24.2±1.7months; all left sided hernia; 9 after extracorporeal membrane oxygenation therapy) underwent quantitative DCE-MRI of the lung. Segmentations of left and right lung were manually drawn to mask the calculated pulmonary blood flow maps and then to derive histograms for each lung side. Individual and group wise analysis of histograms of left and right lung was performed. Ipsilateral and contralateral lung show significant difference in shape and descriptive statistics derived from the histogram (Wilcoxon signed-rank test, p<0.05) on group wise and individual level. Subgroup analysis (patients with vs without ECMO therapy) showed no significant differences using histogram derived parameters. Histogram analysis can be a valuable tool to characterize and visualize whole lung perfusion of children after CDH repair. It allows for several possibilities to analyze the data, either describing the perfusion differences between the right and left lung but also to explore and visualize localized perfusion patterns in the 3D lung volume. Subgroup analysis will be possible given sufficient sample sizes. Copyright © 2017 Elsevier Inc. All rights reserved.

[Analysis of the speech discrimination scores of patients with congenital unilateral microtia and external auditory canal atresia in noise].

PubMed

Zhang, Y; Li, D D; Chen, X W

2017-06-20

Objective: Case-control study analysis of the speech discrimination of unilateral microtia and external auditory canal atresia patients with normal hearing subjects in quiet and noisy environment. To understand the speech recognition results of patients with unilateral external auditory canal atresia and provide scientific basis for clinical early intervention. Method: Twenty patients with unilateral congenital microtia malformation combined external auditory canal atresia, 20 age matched normal subjects as control group. All subjects used Mandarin speech audiometry material, to test the speech discrimination scores (SDS) in quiet and noisy environment in sound field. Result: There's no significant difference of speech discrimination scores under the condition of quiet between two groups. There's a statistically significant difference when the speech signal in the affected side and noise in the nomalside (single syllable, double syllable, statements; S/N=0 and S/N=-10) ( P <0.05). There's no significant difference of speech discrimination scores when the speech signal in the nomalside and noise in the affected side. There's a statistically significant difference in condition of the signal and noise in the same side when used one-syllable word recognition (S/N=0 and S/N=-5) ( P <0.05), while double syllable word and statement has no statistically significant difference ( P >0.05). Conclusion: The speech discrimination scores of unilateral congenital microtia malformation patients with external auditory canal atresia under the condition of noise is lower than the normal subjects. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

Whole Exome Sequencing Identifies de Novo Mutations in GATA6 Associated with Congenital Diaphragmatic Hernia

PubMed Central

Yu, Lan; Bennett, James T.; Wynn, Julia; Carvill, Gemma L.; Cheung, Yee Him; Shen, Yufeng; Mychaliska, George B.; Azarow, Kenneth S.; Crombleholme, Timothy M.; Chung, Dai H.; Potoka, Douglas; Warner, Brad W.; Bucher, Brian; Lim, Foong-Yen; Pietsch, John; Stolar, Charles; Aspelund, Gudrun; Arkovitz, Marc S.; Mefford, Heather; Chung, Wendy K.

2014-01-01

Background Congenital diaphragmatic hernia (CDH) is a common birth defect affecting 1 in 3,000 births. It is characterized by herniation of abdominal viscera through an incompletely formed diaphragm. Although chromosomal anomalies and mutations in several genes have been implicated, the cause for most patients is unknown. Methods We used whole exome sequencing in two families with CDH and congenital heart disease, and identified mutations in GATA6 in both. Results In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot. In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect. The G238* mutation was inherited from their mother, who was clinically affected with congenital absence of the pericardium, patent ductus arteriosus, and intestinal malrotation. Deep sequencing of blood and saliva derived DNA from the mother suggested somatic mosaicism as an explanation for her milder phenotype, with only approximately 15% mutant alleles. To determine the frequency of GATA6 mutations in CDH, we sequenced the gene in 378 patients with CDH. We identified one additional de novo mutation (c.1071delG, p.V358Cfs34*). Conclusions Mutations in GATA6 have been previously associated with pancreatic agenesis and congenital heart disease. We conclude that, in addition to the heart and the pancreas, GATA6 is involved in development of two additional organs, the diaphragm and the pericardium. In addition we have shown that de novo mutations can contribute to the development of CDH, a common birth defect. PMID:24385578

Liquid-injection for preperitoneal dissection of transabdominal preperitoneal (TAPP) inguinal [corrected] hernia repair.

PubMed

Mizota, Tomoko; Watanabe, Yusuke; Madani, Amin; Takemoto, Norihiro; Yamada, Hidehisa; Poudel, Saseem; Miyasaka, Yuji; Kurashima, Yo

2015-03-01

The creation of an adequate peritoneal flap during laparoscopic transabdominal preperitoneal (TAPP) inguinal hernia repair, while avoiding injuring surrounding structures can be technically challenging. Liquid infiltration of the preperitoneal space can help facilitate dissection and avoid inadvertent injuries. We describe a novel technique for TAPP inguinal hernia repair using liquid-injection for preperitoneal [corrected] dissection and report our initial experience. TAPP inguinal hernia repair using a liquid-injection technique during preperitoneal dissection was performed by a single surgical resident without prior TAPP repair experience from July 2013 to January 2014. After trocar placement, 60 mL of 0.3 % lidocaine with 1:300,000 dilution of epinephrine was injected percutaneously using a blunt needle under laparoscopic visualization into the preperitoneal space to assist with the dissection and parietalization of the vas deferens, spermatic vessels, and epigastric vessels. The initial peritoneal incision is performed at the lateral side of the inguinal canal, followed by blunt dissection of the preperitoneal space. Eleven patients (median age: 69; 8 male) with a total of 12 inguinal hernias underwent a TAPP repair using a liquid-injection preperitoneal dissection technique. Ten patients had unilateral hernias (4 indirect, 6 direct), and one patient had bilateral direct hernias. The median operative time, median injection time, and median dissection time were 116, 3.5, and 42 min, respectively. Estimated blood loss was less than 10 mL for all cases. No intraoperative injuries, conversions to open repair, or 30-day postoperative complications occurred. There were no hernia recurrences after a median follow-up of 143 days. Our preliminary experience suggests that liquid-injection to assist preperitoneal dissection during TAPP inguinal hernia repair appears to be safe and feasible. This novel method facilitates the dissection of spermatic cord structures, and can be used to minimize trauma to surrounding structures, especially when performed by trainees with limited operative experience.

Effect of unilateral congenital cataract surgery on ocular axial length growth and corneal flattening.

PubMed

Borghol-Kassar, R; Menezo-Rozalén, J L; Harto-Castaño, M A; Desco-Esteban, M C

2015-03-01

The aim of this article is to study the effect of unilateral congenital cataract surgery on ocular growth and corneal flattening. This is a cross-sectional study of 59 patients operated on due to a unilateral congenital cataract. The median age of the patients at the time of diagnosis was 17 months (interquartile range, 5-39 months). The median age at cataract the time of surgery was 28 months (interquartile range, 8-52 months), and the mean follow-up between cataract surgery and assessments was 149.7±69.9 months (range, 30-319 months). Axial length and corneal curvature were measured in both operated and non-operated eyes, comparing the results between them. There were no statistically significant differences for axial length growth or corneal flattening between operated and non-operated eyes: axial length (P=.327, Student t test) and corneal curvature (P=.078, Student t test). A sub-analysis was performed using the visual acuity and the age of the patient at the time of surgery. The only statistically significant data (P=.007, Student t test) was a lower axial length in operated eyes compared to non-operated eyes, in the non-deep-amblyopia group. No significant axial length growth modifications were observed between operated and non-operated eyes. Only the non-deep-amblyopia group presented with a lower axial length in the operated eyes compared to non-operated eyes. No significant differences in corneal flattening were found between groups after unilateral congenital cataract surgery. Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

Monocular oral reading after treatment of dense congenital unilateral cataract

PubMed Central

Birch, Eileen E.; Cheng, Christina; Christina, V; Stager, David R.

2010-01-01

Background Good long-term visual acuity outcomes for children with dense congenital unilateral cataracts have been reported following early surgery and good compliance with postoperative amblyopia therapy. However, treated eyes rarely achieve normal visual acuity and there has been no formal evaluation of the utility of the treated eye for reading. Methods Eighteen children previously treated for dense congenital unilateral cataract were tested monocularly with the Gray Oral Reading Test, 4th edition (GORT-4) at 7 to 13 years of age using two passages for each eye, one at grade level and one at +1 above grade level. In addition, right eyes of 55 normal children age 7 to 13 served as a control group. The GORT-4 assesses reading rate, accuracy, fluency, and comprehension. Results Visual acuity of treated eyes ranged from 0.1 to 2.0 logMAR and of fellow eyes from −0.1 to 0.2 logMAR. Treated eyes scored significantly lower than fellow and normal control eyes on all scales at grade level and at +1 above grade level. Monocular reading rate, accuracy, fluency, and comprehension were correlated with visual acuity of treated eyes (rs = −0.575 to −0.875, p < 0.005). Treated eyes with 0.1-0.3 logMAR visual acuity did not differ from fellow or normal control eyes in rate, accuracy, fluency, or comprehension when reading at grade level or at +1 above grade level. Fellow eyes did not differ from normal controls on any reading scale. Conclusions Excellent visual acuity outcomes following treatment of dense congenital unilateral cataracts are associated with normal reading ability of the treated eye in school-age children. PMID:20603057

Neonatal Intrathoracic Stomach without Gastric Volvulus.

PubMed

Bokka, Sriharsha; Mohanty, Manoj Kumar

2016-10-01

Intrathoracic stomach is a rare and serious congenital abnormality. The anomaly may be complicated by gastric volvulus and can lead to ischemic gastric infarction in the neonate. If diagnosed antenatally, neonatal management can be planned in advance so as to reduce morbidity. This anomaly must be differentiated from the more common congenital diaphragmatic hernia, as associated pulmonary hypoplasia is common in the latter and rare with gastric herniation. We report a case of intrathoracic stomach in a neonate without volvulus, fortunately a rare entity which was managed operatively, and the child has been under regular follow-up.

The prevalence and extent of gastroesophageal reflux disease correlates to the type of lung transplantation.

PubMed

Fisichella, Piero Marco; Davis, Christopher S; Shankaran, Vidya; Gagermeier, James; Dilling, Daniel; Alex, Charles G; Kovacs, Elizabeth J; Joehl, Raymond J; Love, Robert B

2012-02-01

Evidence is increasingly convincing that lung transplantation is a risk factor of gastroesophageal reflux disease (GERD). However, it is still not known if the type of lung transplant (unilateral, bilateral, or retransplant) plays a role in the pathogenesis of GERD. The records of 61 lung transplant patients who underwent esophageal function tests between September 2008 and May 2010, were retrospectively reviewed. These patients were divided into 3 groups based on the type of lung transplant they received: unilateral (n=25); bilateral (n=30), and retransplant (n=6). Among these groups we compared: (1) the demographic characteristics (eg, sex, age, race, and body mass index); (2) the presence of Barrett esophagus, delayed gastric emptying, and hiatal hernia; and (3) the esophageal manometric and pH-metric profile. Distal and proximal reflux were more prevalent in patients with bilateral transplant or retransplant and less prevalent in patients after unilateral transplant, regardless of the cause of their lung disease. The prevalence of hiatal hernia, Barrett esophagus, and the manometric profile were similar in all groups of patients. Although our data show a discrepancy in prevalence of GERD in patients with different types of lung transplantation, we cannot determine the exact cause for these findings from this study. We speculate that the extent of dissection during the transplant places the patients at risk for GERD. On the basis of the results of this study, a higher level of suspicion of GERD should be held in patients after bilateral or retransplantation.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lin, I.C.; Ko, S.F.; Shieh, C.S.

Ehlers-Danlos syndrome (EDS) includes a group of connective tissue disorders with abnormal collagen metabolism and a diverse clinical spectrum. We report two siblings with EDS who both presented with congenital diaphragmatic hernia (CDH). The elder sister suffered from recurrent diaphragmatic hernia twice and EDS was overlooked initially. Echocardiography as well as contrast-enhanced magnetic resonance angiography (MRA) showed dilatation of the pulmonary artery, and marked elongation and tortuosity of the aorta and its branches. A diagnosis of EDS was eventually established when these findings were coupled with the clinical features of hyperelastic skin. Her younger brother also had similar features. Thismore » report emphasizes that EDS may present as CDH in a small child which could easily be overlooked. Without appropriate surgery, diaphragmatic hernia might occur. Echocardiographic screening is recommended in patients with CDH. Contrast-enhanced MRA can be helpful in delineation of abnormally tortuous aortic great vessels that are an important clue to the early diagnosis of EDS.« less

Single site and conventional totally extraperitoneal techniques for uncomplicated inguinal hernia repair: A comparative study.

PubMed

de Araújo, Felipe Brandão Corrêa; Starling, Eduardo Simão; Maricevich, Marco; Tobias-Machado, Marcos

2014-10-01

To demonstrate the feasibility of endoscopic extraperitoneal single site (EESS) inguinal hernia repair and compare it outcomes with the conventional totally extraperitoneal (TEP) technique. TEP inguinal hernia repair is a widely accepted alternative to conventional open technique with several perioperative advantages. Transumbilical laparoendoscopic singlesite surgery (LESS) is an emerging approach and has been reported for a number of surgical procedures with superior aesthetic results but other advantages need to be proven. Thirty-eight uncomplicated inguinal hernias were repaired by EESS approach between January 2010 and January 2011. All procedures were performed through a 25 cm infraumbilical incision using the Alexis wound retractor attached to a surgical glove and three trocars. Body mass index, age, operative time, blood loss, complications, conversion rate, analgesia requirement, hospital stay, return to normal activities and patient satisfaction with aesthetic results were analysed and compared with the last 38 matched-pair group of patients who underwent a conventional TEP inguinal hernia repair by the same surgeon. All procedures were performed successfully with no conversion. In both unilateral and bilateral EESS inguinal repairs, the mean operative time was longer than conventional TEP (55± 20 vs. 40± 15 min, P = 0.049 and 70± 15 vs. 55± 10 min, P = 0.014). Aesthetic result was superior in the EESS group (2.88± 0.43 vs. 2.79± 0.51, P = 0.042). There was no difference between the two approaches regarding blood loss, complications, hospital stay, time until returns to normal activities and analgesic requirement. EESS inguinal hernia repair is safe and effective, with superior cosmetic results in the treatment of uncomplicated inguinal hernias. Other advantages of this new technique still need to be proven.

Unilateral congenital terminal finger absences: a condition that differs from symbrachydactyly.

PubMed

Knight, Jeffrey B; Pritsch, Tamir; Ezaki, Marybeth; Oishi, Scott N

2012-01-01

To describe a type of nonhereditary unilateral transverse deficiency, which we have named hypodactyly, that is distinct from symbrachydactyly or amniotic disruption sequence. We identified 19 patients with unilateral congenital anomalies consisting of absent or short bulbous fingers that lack terminal ectodermal elements. Medical records and radiographs were retrospectively reviewed and contrasted with the typical findings of symbrachydactyly and amniotic disruption sequence. No associated syndromes or potentially causative diagnoses were identified in the hypodactyly patients. The digital absences were of a truncated pattern with thickened, tubular soft tissue coverage. Radiographs revealed a pattern of severity progression that is different from that of symbrachydactyly. Distal phalanges were the bony elements absent most frequently, followed sequentially by the middle phalanx and proximal phalanx. In all cases, metacarpals were present. Unlike symbrachydactyly, the ulnar 2 digits were more involved than the index and long fingers, and the thumb was the least involved digit. Hypodactyly appears to be a congenital hand anomaly that is clinically and radiographically different from symbrachydactyly or amniotic disruption sequence and is presumed to be caused by a distinct pathomechanism. Prognostic IV. Copyright © 2012 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

Unilateral congenital corneal keloid with anterior segment mesenchymal dysgenesis and subluxated lens: case report and review of literature.

PubMed

Vanathi, M; Sen, Seema; Panda, Anita; Dada, Tanuj; Behera, Geeta; Khokhar, Sudharshan

2007-01-01

To report the unusual association of unilateral congenital corneal keloid with anterior-segment mesenchymal dysgenesis and bilateral subluxated lens. A 20-year old man presented with a mass lesion involving the left cornea. The corneal lesion had been present since birth. On biomicroscopic examination, a well-defined vascularized, grayish-white mass occupying the whole of the left cornea was seen. The right eye showed multiple peripheral corneal opacities with iridocorneal adhesions, a poorly defined supranasal limbus, and a subluxated lens. Excision biopsy of the mass was done for histopathologic examination. Histopathologic examination of the excised corneal mass showed features consistent with that of a corneal keloid: thickened keratinized epithelium, absent Bowman membrane layer, and fibrovascular hyperplasia composed of hyalinized collagen fibers with irregular orientation of the collagen lamellae. During penetrating keratoplasty of the left eye, an anomalous iris pattern with poorly defined angle and a supranasal subluxated lens was also observed. Extraction of the subluxated lens was also done. The graft failed subsequent to a nonhealing persistent epithelial defect. Our case report highlights the rare association of a unilateral congenital corneal keloid with anterior-segment mesenchymal dysgenesis and bilateral subluxated lens.

Meckel's diverticulum incarcerated in a transmesocolic internal hernia

PubMed Central

Wu, Si-Yuan; Ho, Meng-Hsing; Hsu, Sheng-Der

2014-01-01

Intestinal obstruction is a common complication associated with Meckel’s diverticulum in adults. The diverticulum itself or its fibrous band can lead to an intestinal volvulus, intussusceptions, or closed-loop obstructions, which require surgery. The incarceration of Meckel’s diverticulum in either inguinal or femoral hernia sacs (Littre’s hernia) is another, less common, etiology underlying intestinal obstruction. This case report describes a 45-year-old man who had an obstruction associated with a Meckel’s diverticulum that passed through a congenital defect in the mesocolon into the right subphrenic space. The patient, who had not undergone abdominal surgery previously, came to the emergency room with acute onset of intermittent epigastric pain and abdominal distention. Computed tomography images showed the presence of a segment of the small bowel and a diverticulum in the right subphrenic space and paracolic gutter. The twisted mesentery and the dilated loops of the proximal small bowel were indicative of an intestinal volvulus and obstruction. Meckel’s diverticulum complicated by a transmesocolic internal hernia was diagnosed, and this condition was confirmed during emergency surgery. The patient’s postoperative recovery was uneventful. This case report highlights another presentation of Meckel’s diverticulum, that is, in combination with a transmesocolic internal hernia. This etiology may lead to an intestinal volvulus and necessitate early surgery. PMID:25309093

Congenital hydronephrosis: disease or condition?

PubMed

Petrovski, Mile; Simeonov, Risto; Todorovikj, Lazar; Chadikovski, Vladimir; Memeti, Shaban; Petrovska, Branka; Risteski, Toni; Cvetanovska, Vesna

2014-01-01

The aim of this paper is to address the dilemmas of the paediatric surgeon when facing an isolated, unilateral, congenital hydronephrosis and discuss the strategic options for the management of this condition. Congenital hydronephrosis, the most commonly diagnosed uropathy in children, is usually a benign and self-resolving condition. Nonobstructive hydronephrosis does not require operative treatment, while timely treatment is imperative for obstructive hydronephrosis before significant renal damage ensues. Managing congenital hydronephrosis is a challenging task. Thirty-two children with unilateral, isolated hydronephrosis and nonobstructed renography curves were followed up for 3 years. On the initial evaluation according to the grade of hydronephrosis: 22.6% were grade I, 54.8% grade II and 22.6% grade III. After 12 months of follow-up: 30% were grade I, 51 .5% grade II and 18.5% grade III, respectively. After the three-year follow-up, there were no hydroneproses greater than grade II. The mean value of the separate GFR of the affected kidney at initial evaluation was 42.83%, and 40.33% after three years. In three children the treatment was converted from conservative to surgical. Nonobstructive, congenital hydronephrosis is a benign condition not requiring any medical treatment, but aggressive observation is indicated.

[Clinical and MRI Findings in Patients with Congenital Anosmia].

PubMed

Ogawa, Takao; Kato, Tomohisa; Ono, Mayu; Shimizu, Takeshi

2015-08-01

The clinical characteristics of 16 patients with congenital anosmia were examined retrospectively. MRI (magnetic resonance imaging) was used to assess the morphological changes in the olfactory bulbs and olfactory sulci according to the method of P. Rombaux (2009). Congenital anosmia was divided into two forms: syndromic forms in association with a syndrome, and isolated forms without evidence of other defects. Only three patients (19%) in our series had syndromic forms of congenital anosmia, such as the Kallmann syndrome. Most cases (13 patients, 81%) had isolated congenital anosmia. Psychophysical testing of the olfactory function included T&T olfactometry and the intravenous Alinamin test, which are widely used in Japan. In T&T olfactometry, detection and recognition thresholds for the five odorants are used to assign a diagnostic category representing the level of olfactory function. Most cases (14 patients, 88%) showed off-scale results on T&T olfactometry, and the Alinamin test resulted in no response in all 11 patients who underwent the test. Abnormal MRI findings of the olfactory bulbs and sulci were detected in 15 of 16 patients (94%). Olfactory bulbs were bilaterally absent in nine patients (56%), and two patients (13%) had unilateral olfactory bulbs. Four patients (25%) had bilateral hypoplastic olfactory bulbs, and only one patient had normal olfactory bulbs (6%). The olfactory sulcus was unilaterally absent in one patient (6%), and nine patients (56%) had bilaterally hypoplastic olfactory sulci. Two patients (13%) had a unilateral normal olfactory sulcus and hypoplastic olfactory sulcus. Three patients (19%) had normal olfactory sulci. Quantitative analysis showed that the volume of olfactory bulbs varied from 0 mm3 to 63.5 mm3, with a mean volume of 10.20 ± 18 mm3, and the mean depth of the olfactory sulcus varied from 0 mm to 12.22 mm, with a mean length of 4.85 ± 4.1 mm. Currently, there is no effective treatment for congenital anosmia. However, diagnosis of congenital anosmia is important, as its presence can lead to dangerous situations. Careful examination for hypogonadism is also required in people with anosmia. MRI examinations of the olfactory bulbs and sulci were useful for the diagnosis of congenital anosmia.

Unilateral fixation for treatment of occipitocervical instability in children with congenital vertebral anomalies of the craniocervical junction.

PubMed

Mazur, Marcus D; Ravindra, Vijay M; Brockmeyer, Douglas L

2015-04-01

OBJECT Patients with occipitocervical (OC) instability from congenital vertebral anomalies (CVAs) of the craniocervical junction (CCJ) often have bony abnormalities that make instrumentation placement difficult. Within this patient population, some bilateral instrumentation constructs either fail or are not feasible, and a unilateral construct must be used. The authors describe the surgical management and outcomes of this disorder in patients in whom unilateral fixation constructs were used to treat OC instability. METHODS From a database of OC fusion procedures, the authors identified patients who underwent unilateral fixation for the management of OC instability. Patient characteristics, surgical details, and radiographic outcomes were reviewed. In each patient, CT scans were performed at least 4 months after surgery to evaluate for fusion. RESULTS Eight patients with CVAs of the CCJ underwent unilateral fixation for the treatment of OC instability. For 4 patients, the procedure occurred after a bilateral OC construct failed or infection forced hardware removal. For the remainder, it was the primary procedure. Two patients required reoperation for hardware revision and 1 developed nonunion requiring revision of the bone graft. Ultimately, 7 patients demonstrated osseous fusion on CT scans and 1 had a stable fibrous union. CONCLUSIONS These findings demonstrate that a unilateral OC fixation is effective for the treatment of OC instability in children with CVAs of the CCJ in whom bilateral screw placement fails or is not feasible.

Analgesic effect of bupivacaine on extraperitoneal laparoscopic hernia repair.

PubMed

Saff, G N; Marks, R A; Kuroda, M; Rozan, J P; Hertz, R

1998-08-01

Local anesthetics decrease postoperative pain when placed at the surgical site. Patients benefit from laparoscopic extraperitoneal hernia repair because this allows earlier mobilization than the more classical open surgical approach. The purpose of this study was to determine the pain-sparing efficacy of local anesthetics placed in the preperitoneal fascial plane during extraperitoneal laparoscopic inguinal hernia surgery. Forty-two outpatients were included in a double-blind, randomized, placebo-controlled, institutional review board-approved study. At the conclusion of a standardized general anesthetic, 21 patients received 60 mL of 0.125% bupivacaine into the preperitoneal fascial plane before incisional closure, whereas the other 21 patients received 60 mL of the isotonic sodium chloride solution placebo. Postoperative pain was assessed 1, 4, 8, 24, and 72 h postoperatively. In addition, postoperative fentanyl and outpatient acetaminophen 500 mg/hydrocodone 5 mg requirements were recorded. All hernia repairs were performed by the same surgeon. Appropriate statistical analyses were used. There were no significant differences between the bupivacaine and isotonic sodium chloride solution groups with regard to postoperative pain scores, length of postanesthesia care unit stay, or analgesic requirements. Furthermore, neither unilateral versus bilateral repair nor operative time affected the measured parameters. The addition of 60 mL of 0.125% bupivacaine into the preperitoneal fascial plane during extraperitoneal laparoscopic hernia repair did not significantly alter pain scores, supplementary analgesic requirements, or recovery room length of stay. The placement of 60 mL of 0.125% bupivacaine into the preperitoneal fascial plane during extraperitoneal laparoscopic hernia repair did not significantly alter pain scores, supplementary analgesic requirements, or recovery room length of stay.

Coexistence of bilateral first and second branchial arch anomalies

PubMed Central

Thakur, J S; Shekar, Vidya; Saluja, Manika; Mohindroo, N K

2013-01-01

Branchial arch anomalies are one of the most common congenital anomalies that are usually unilateral and bilateral presentation is rare. The simultaneous presence of bilateral second branchial arch anomalies along with bilateral first arch anomalies is extremely rare, with only three such cases reported in the literature. We present two non-syndromic cases of coexisting bilateral first and second arch anomalies. Developmental anomalies of the branchial apparatus account for 17% of all paediatric cervical masses and are the most common type of congenital cervical mass. They usually present in the paediatric age group. About 96–97% of these anomalies are unilateral. Bilateral presentation is seen in 2–3% having a strong familial association. Congenital syndromes also have been associated with first and second branchial arch anomalies. Thorough clinical examination and investigations should be done to rule out these syndromes. PMID:23580675

Congenital unilateral absence of the upper extremity may give rise to a specific kind of thoracolumbar curve.

PubMed

Olgun, Z Deniz; Demirkiran, Gokhan; Polly, David; Yazici, Muharrem

2018-03-01

There is an increased incidence of scoliosis in patients with congenital malformations of the upper extremity even in the absence of overt vertebral abnormalities. In this case series, we summarize the curve characteristics of four patients presenting to two spine surgery clinics with unilateral amelia or phocomelia and a progressive scoliotic curve with the apex on the side of deficiency. All patients required orthopedic intervention for their curves. Amelia and phocomelia are severe congenital malformations of the upper limb affecting trunk balance and, conceivably, causing scoliosis with the absence of counterbalancing weight on the affected side. The combination of upper limb absence and same-sided scoliosis in these patients may provide a clue of the mechanical factors causing scoliosis in other disorders. In this article, we attempt to define this exceptional deformity, theorize on its etiology, and draw attention to this particular combination of problems. Case series; Level IV.

75 FR 63498 - Eunice Kennedy Shriver National Institute of Child Health & Human Development; Notice of Closed...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-10-15

... National Institute of Child Health & Human Development; Notice of Closed Meeting Pursuant to section 10(d... Institute of Child Health and Human Development Special Emphasis Panel; Congenital Diaphragmatic Hernia..., Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, 6100 Executive Blvd...

Abdominal Wall Endometriosis Mimicking Metastases.

PubMed

Nambiar, Rakul; Anoop, T M; Mony, Rari P

2018-06-01

Abdominal wall lesions can be broadly divided into nontumorous and tumorous conditions. Nontumorous lesions include congenital lesion, abdominal wall hernia, inflammation and infection, vascular lesions, and miscellaneous conditions like hematoma. Tumorous lesions include benign and malignant neoplasms. Here, we report an unusual case of abdominal wall endometriosis mimicking metastases in a patient with breast carcinoma.

Conditional deletion of WT1 in the septum transversum mesenchyme causes congenital diaphragmatic hernia in mice

PubMed Central

Carmona, Rita; Cañete, Ana; Cano, Elena; Ariza, Laura; Rojas, Anabel; Muñoz-Chápuli, Ramon

2016-01-01

Congenital diaphragmatic hernia (CDH) is a severe birth defect. Wt1-null mouse embryos develop CDH but the mechanisms regulated by WT1 are unknown. We have generated a murine model with conditional deletion of WT1 in the lateral plate mesoderm, using the G2 enhancer of the Gata4 gene as a driver. 80% of G2-Gata4Cre;Wt1fl/fl embryos developed typical Bochdalek-type CDH. We show that the posthepatic mesenchymal plate coelomic epithelium gives rise to a mesenchyme that populates the pleuroperitoneal folds isolating the pleural cavities before the migration of the somitic myoblasts. This process fails when Wt1 is deleted from this area. Mutant embryos show Raldh2 downregulation in the lateral mesoderm, but not in the intermediate mesoderm. The mutant phenotype was partially rescued by retinoic acid treatment of the pregnant females. Replacement of intermediate by lateral mesoderm recapitulates the evolutionary origin of the diaphragm in mammals. CDH might thus be viewed as an evolutionary atavism. DOI: http://dx.doi.org/10.7554/eLife.16009.001 PMID:27642710

Effect of dexamethasone on endothelial nitric oxide synthase in experimental congenital diaphragmatic hernia

PubMed Central

Okoye, B.; Losty, P.; Fisher, M.; Wilmott, I.; Lloyd, D.

1998-01-01

AIMS—To study the effect of prenatal glucocorticoid treatment on endothelial nitric oxide synthase (eNOS) expression in rats with congenital diaphragmatic hernia (CDH).
METHODS—CDH was induced in fetal rats by the maternal administration of nitrofen on day 9.5 of gestation. Dexamethasone was administered on days 18.5 and 19.5 before delivery of the fetuses on days 20.5and 21.5. Pulmonary eNOS protein expression was studied by western immunoblotting and immunohistochemistry.
RESULTS—On day 20.5, eNOS expression was significantly reduced in CDH pups compared with normal control rats. Dexamethasone treated CDH pups had eNOS concentrations equivalent to those of normal animals. By day 21.5, however, there was no detectable difference in eNOS expression between the experimental groups.
CONCLUSIONS—eNOS is deficient in near term (day 20.5) CDH rats. Dexamethasone restores eNOS expression in these animals to that seen in normal rat lungs. At term, the precise role of eNOS in the pathophysiology of CDH remains uncertain.

 PMID:9713033

Effects of tracheal occlusion with retinoic acid administration on normal lung development.

PubMed

Delabaere, Amélie; Marceau, Geoffroy; Coste, Karen; Blanchon, Loïc; Déchelotte, Pierre-Jean; Blanc, Pierre; Sapin, Vincent; Gallot, Denis

2017-05-01

Tracheal occlusion (TO) is an investigational therapy for severe congenital diaphragmatic hernia that decreases pulmonary hypoplasia, but sustained TO also induces deficient surfactant synthesis. Intramuscular maternal administration of retinoic acid (RA) in a surgical rabbit model of congenital diaphragmatic hernia showed a beneficial effect on lung maturation. We evaluated the potential of RA delivery into the trachea and studied the combined effects of TO and RA on normal lung development. Experiments were performed on normal rabbit fetuses. Liposomes and capric triglyceride (Miglyol ® ), alone and with RA, were administered in the trachea just before TO (d26). Lung morphology and surfactant production were studied at term (d30). Tracheal occlusion increased lung weight and enhanced alveolar development but increased apoptotic activity and decreased surfactant expression. Tracheal injection of RA improved surfactant production to levels of normal controls. We established the potential of liposome and Miglyol as RA vehicle for delivering this bioactive molecule in the fetal airways. Tracheal RA injection seems to oppose the effects of TO in fetuses with normal lungs. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

Standardized Postnatal Management of Infants with Congenital Diaphragmatic Hernia in Europe: The CDH EURO Consortium Consensus - 2015 Update.

PubMed

Snoek, Kitty G; Reiss, Irwin K M; Greenough, Anne; Capolupo, Irma; Urlesberger, Berndt; Wessel, Lucas; Storme, Laurent; Deprest, Jan; Schaible, Thomas; van Heijst, Arno; Tibboel, Dick

2016-01-01

In 2010, the congenital diaphragmatic hernia (CDH) EURO Consortium published a standardized neonatal treatment protocol. Five years later, the number of participating centers has been raised from 13 to 22. In this article the relevant literature is updated, and consensus has been reached between the members of the CDH EURO Consortium. Key updated recommendations are: (1) planned delivery after a gestational age of 39 weeks in a high-volume tertiary center; (2) neuromuscular blocking agents to be avoided during initial treatment in the delivery room; (3) adapt treatment to reach a preductal saturation of between 80 and 95% and postductal saturation >70%; (4) target PaCO2 to be between 50 and 70 mm Hg; (5) conventional mechanical ventilation to be the optimal initial ventilation strategy, and (6) intravenous sildenafil to be considered in CDH patients with severe pulmonary hypertension. This article represents the current opinion of all consortium members in Europe for the optimal neonatal treatment of CDH. © 2016 The Author(s) Published by S. Karger AG, Basel.

Laparoscopic transabdominal preperitoneal inguinal hernia repair using needlescopic instruments: a 15-year, single-center experience in 317 patients.

PubMed

Wada, Hidetoshi; Kimura, Taizo; Kawabe, Akihiro; Sato, Masanori; Miyaki, Yuichirou; Tochikubo, Junpei; Inamori, Kouji; Shiiya, Norihiko

2012-07-01

Laparoscopic inguinal hernia repair is associated with a decrease in postoperative pain, shortened hospital stay, earlier return to normal activity, and decrease in chronic pain. Moreover, laparoscopic surgery performed with needlescopic instruments has more advantages than conventional laparoscopic surgery. However, there are few reports of large-scale laparoscopic transabdominal preperitoneal inguinal hernia repair using needlescopic instruments (nTAPP). This report reviews our experiences with 352 nTAPP in 317 patients during the 15-year period from April 1996 to April 2011. We performed nTAPP as the method of choice in 88.5% of all patients presenting with inguinal hernia. To perform the nTAPP, 3-mm instruments were used. A 5-mm laparoscope was inserted from the umbilicus, and surgical instruments were inserted through 5- and 3-mm trocars. After reduction of the hernia sac and dissection of the preperitoneal space, we placed polyester mesh or polypropylene soft mesh with staple fixation. The peritoneum was closed with 3-0 silk interrupted sutures. The mean operative time was 102.9 min for unilateral hernias and 155.8 min for bilateral hernias. There was no conversion to open repair. Forty-three patients (13.6%) used postoperative analgesics, and the mean frequency of use was 0.5 times. Regarding intraoperative complications, we observed one bladder injury, but no bowel injuries or major vessel injuries. Postoperative complications occurred in 32 patients (10.1%). One patient with a retained lipoma required reoperation. There was no incidence of chronic pain or mesh infection. The operative time for experienced surgeons (≥ 20 repairs) was significantly shorter than that of inexperienced surgeons (< 20 repairs; P < 0.05). The nTAPP was a safe and useful technique for inguinal hernia repair. Large prospective, randomized controlled trials will be required to establish the benefit of nTAPP.

Congenital diaphragmatic hernia-influence of fetoscopic tracheal occlusion on outcomes and predictors of survival.

PubMed

Ali, Kamal; Bendapudi, Perraju; Polubothu, Satyamaanasa; Andradi, Gwendolyn; Ofuya, Mercy; Peacock, Janet; Hickey, Ann; Davenport, Mark; Nicolaides, Kypros; Greenough, Anne

2016-08-01

The morbidity of infants with congenital diaphragmatic hernia (CDH) who had undergone foetal endoscopic tracheal occlusion (FETO) to those who had not was compared and predictors of survival regardless of antenatal intervention were identified. FETO was undertaken on the basis of the lung to head ratio or the position of the liver. A retrospective review of the records of 78 CDH infants was undertaken to determine the lung-head ratio (LHR) at referral and prior to birth, maximum oxygen saturation in the labour suite and neonatal outcomes. The 43 FETO infants were born earlier (mean 34 versus 38 weeks) (p < 0.001). They had a lower mean LHR at referral (0.65 versus 1.24) (p < 0.001) but not prior to birth and did not have a higher mortality than the 35 non-FETO infants. The FETO infants required significantly longer durations of ventilation (median: 15 versus 6 days) and supplementary oxygen (28 versus 8 days) and hospital stay (29 versus 16 days). Overall, the best predictor of survival was the OI in the first 24 h. The FETO group had increased morbidity, but not mortality. The lowest oxygenation index in the first 24 h was the best predictor of survival regardless of antenatal intervention. • Randomised controlled trials have demonstrated that foetal endotracheal occlusion (FETO) in high risk infants with congenital diaphragmatic hernia is associated with a higher survival rate. • Mortality is greater in foetuses who underwent FETO and delivered prior to 35 weeks of gestation. What is New: • Infants who had undergone FETO compared to those who had not had significantly longer durations of mechanical ventilation, supplementary oxygen and hospital stay. • Regardless of antenatal intervention, the lowest oxygenation index in the first 24 h was the best predictor of survival.

A case report of small bowel obstruction secondary to congenital peritoneal band in adult.

PubMed

Abdelwahed, Yahmadi; Saber, Rebii; Imen, Ben Ismail; Hakim, Zenaidi; Ayoub, Zoghlami

2017-01-01

Small bowel obstruction (SBO) is common in adult surgical procedures, mainly due to postoperative adhesions. Acute SBO in adults without history of abdominal surgery, trauma or clinical hernia is less common and has various etiologies. Congenital band is an extremely rare cause. A 56-year-old man was admitted to our hospital with a two-day history of abdominal pain and bilious vomiting. He had no history of abdominal surgery or any other medical problems. A contrast-enhanced CT of the abdomen showed a distention of small bowel loops with transition point in the right hypochondrium. Distended loops of small bowel were located in the left side of the abdomen, whereas collapsed loops was located in the right side. The normal bowel wall enhancement was preserved. After initial treatment with intravenous fluid and nasogastric suction, he was operated. At laparoscopy a band obstructing the ileum was clearly observed. This anomalous band extending from gallbladder to transverse mesocolon caused a small window leading to internal herniation of the small bowel and obstruction. The band was coagulated and divided. Postoperative outcome was uneventful and the patient was discharged on the second postoperative day. There was no recurrence of symptoms on subsequent follow-up. Congenital peritoneal bands are not frequently encountered in surgical practice and these bands are often difficult to classify and define. Diagnosis of acute intestinal obstruction due to CPB must be included in the differential diagnosis in any patient with no history of abdominal surgery, trauma, clinical hernia, inflammatory bowel disease or peritoneal tuberculosis. Despite technological advances in radiology preoperative diagnosis remains difficult, however the diagnosis of SBO due to CPB must be considered in any patient with no history of abdominal surgery, Trauma or clinical hernia consulting for occlusive syndrome. The laparoscopic approach should be intended initially for its feasibility and benefits. Copyright © 2016. Published by Elsevier Ltd.

Perceptual Asymmetry for Chimeric Stimuli in Children with Early Unilateral Brain Damage

ERIC Educational Resources Information Center

Bava, Sunita; Ballantyne, Angela O.; May, Susanne J.; Trauner, Doris A.

2005-01-01

The present study used a chimeric stimuli task to assess the magnitude of the left-hemispace bias in children with congenital unilateral brain damage (n=46) as compared to typically developing matched controls (n=46). As would be expected, controls exhibited a significant left-hemispace bias. In the presence of left hemisphere (LH) damage, the…

Congenital zygomatico-mandibular fusion (pseudo-syngnathia?) in conjunction with unilateral anophthalmia: review of terminology and classification.

PubMed

Tauro, David P; Kallappanavar, N K; Kiran, H Y; Girhe, Vijaykumar J

2012-09-01

Syngnathia per se is a rare congenital disorder. A literature survey reveals a total of 26 cases of syngnathia in the English literature since 1936, of which only seven cases involved fusion of the ascending ramus of the mandible to the posterior portion of the maxilla and zygomatic complex. The remaining 19 involved fusion of the alveolar ridges of the maxilla and mandible. This is a unique case of fusion of the mandible to the zygomatic complex presenting with a unilateral anophthalmic orbit in an 18-day-old neonate. The use of the term syngnathia has been reviewed and a modification in classification has been suggested.

Combined open and laparoscopic approach to chronic pain after inguinal hernia repair.

PubMed

Keller, Jennifer E; Stefanidis, Demitrios; Dolce, Charles J; Iannitti, David A; Kercher, Kent W; Heniford, B Todd

2008-08-01

Chronic groin pain is the most frequent long-term complication after inguinal hernia repair affecting up to 34 per cent of patients. Traditional surgical management includes groin exploration, mesh removal, and neurectomy. We evaluate outcomes of a combined laparoscopic and open approach to chronic pain after inguinal herniorrhaphy. All patients undergoing surgical exploration for chronic pain after inguinal herniorrhaphy were analyzed. In most, the operation consisted of mesh removal (open or laparoscopic), neurectomy, and placement of mesh in the opposite location of the first mesh (laparoscopic if the first was open and vice-versa). Main outcome measures included pain status, numbness, and hernia recurrence. Twenty-one patients (16 male and 5 female) with a mean age of 41 years (22-51 years) underwent surgical treatment for unilateral (n = 18) or bilateral (n = 3) groin pain. Percutaneous nerve block was unsuccessful in all patients. Four had previous surgery for pain. There were no complications. With a minimum of 6 weeks follow-up, 20 of 21 patients reported significant improvement or resolution of symptoms. A combined laparoscopic and open approach for postherniorrhaphy groin pain results in excellent patient satisfaction with minimal morbidity. It may be the preferred technique for the definitive management of chronic neuralgia after hernia repair.

A randomised study of ilio-inguinal nerve blocks following inguinal hernia repair: a stopped randomised controlled trial.

PubMed

Walker, Stuart; Orlikowski, Chris

2008-02-01

Local anaesthetic use for post-operative pain control is widely used following open inguinal hernia repair but this is not without risk. The aim of this study was to compare ilio-inguinal nerve block and wound irrigation in patients undergoing open inguinal hernia repair under general anaesthetic in a randomised, double blind, placebo controlled trial. Adult patients admitted for unilateral primary open mesh repair of an inguinal hernia were recruited. The patients received a standard general anaesthetic. Prior to skin incision, an ilio-inguinal injection was performed by the anaesthetist with either ropivicaine or normal saline. Prior to closure of the wound, the wound was irrigated with either ropivicaine or normal saline. Post-operatively, all patients received fentynal patient controlled analgesia and regular oral analgesia. Pain scores and visual analogue scores were recorded until discharge. Patients were then contacted by telephone at 24h, 48h, 2weeks and 4weeks post-operatively and asked a standard series of questions, mainly related to post-operative pain. After 12 patients had been recruited the trial was stopped as 5 of the 8 patients who received an ilio-inguinal nerve block suffered a neurological complication. Ilio-inguinal nerve block with ropivicaine should be avoided.

Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules.

PubMed

Zimmermann, Nives; Stanek, Jerzy

2017-06-10

BACKGROUND Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive syndrome characterized by fetal overgrowth. CASE REPORT We present a case of a male infant with SGBS. Abnormal prenatal ultrasound (including congenital diaphragmatic hernia) prompted microarray testing of amniotic fluid cells, which showed deletion on chromosome Xq26.2 affecting the glypican-3 gene consistent with SGBS type I. The infant died six hours after birth and at autopsy showed features of SGBS, including macrosomia, organomegaly, diaphragmatic hernia with consequent pulmonary hypoplasia, cleft palate, large tongue with a midline groove, a supernumerary nipple, Meckel's diverticulum, and abnormal phalanges. Additionally, we observed features that have previously not been described in SGBS, including testes with hyperplastic seminiferous tubules and Mullerian remnants, and placenta with incipient fetal thrombotic vasculopathy. CONCLUSIONS While most patients with SGBS type I survive into childhood or even adulthood, the severe course in our patient was ascribed to pulmonary hypoplasia secondary to the bilateral diaphragmatic hernia.

Effect of tracheal occlusion on peripheric pulmonary vessel muscularization in a fetal rabbit model for congenital diaphragmatic hernia.

PubMed

Roubliova, Xenia I; Verbeken, Eric K; Wu, Jun; Vaast, Pascal; Jani, Jacques; Deprest, Jan A

2004-09-01

This study was undertaken to evaluate the effects on peripheric pulmonary vessel muscularization by tracheal occlusion (TO) performed at different gestational ages in fetal rabbits with surgically induced diaphragmatic hernia. In 23 New Zealand white does, both ovarian end fetuses underwent surgical creation of diaphragmatic hernia at 23 days of gestation (pseudoglandular phase). At 26, 27, or 28 days 1 fetus underwent TO, the contralateral one underwent a sham operation for a total of 46 fetuses. At 30 days (alveolar phase), fetuses were harvested together with 1 nonoperated internal control. Lungs were processed for vascular morphometry. Proportionate medial thickness and muscularization of intra-acinar vessels were evaluated. Late TO (day 28; saccular phase) normalizes the lung-to-body weight ratio and causes significant medial thinning in vessels up to 35 microm diameter. Tracheal occlusion decreases muscularization of intra-acinar pulmonary vessels in a gestational age-dependent fashion, with maximal effect when TO is performed at 28 days.

[Tension gastrothorax as a cause of death by obstructive shock - case report].

PubMed

García-Regalado, Juan F; Navarro-Rojas, Mariana M

2014-07-01

Tension gastrothorax is caused by the herniation of the stomach into the thorax due to a congenital defect of the diaphragm; the Bochdaleck diaphragmatic hernia (HDB) is the most frequent type. Tension gastrothorax should be considered as a differential diagnosis in patients with obstructive shock and tension pneumothorax. A previously healthy 10 month-old male infant, who presented increased respiratory distress, increased volume of the left hemithorax, absence of breath sounds, ipsilateral hyper-resonance, 76% saturation, cold skin and capillary filling > 5 seconds, followed by a cardio-respiratory arrest. Due to clinical suspicion of pneumothorax, needle decompression was performed reversing cardiac arrest, but with persistent hemodynamic and respiratory instability; chest radiograph suggested diaphragmatic hernia. He underwent surgery confirming the presence of a diaphragmatic hernia of 5 cm. The evolution of this case shows the difficulty differentiating a tension gastrothorax from tension pneumothorax in patients admitted to the emergency room who are in serious condition; therefore, a high index of suspicion is needed for its identification.

Unilateral Cleft Hand with Cleft Foot

PubMed Central

Baba, Asif Nazir; Bhat, Yasmeen J.; Ahmed, Sheikh Mushtaq; Nazir, Abid

2009-01-01

Congenital anomalies of the hand form an important class of congenital malformations. They have a huge functional importance because of the part played by the hand in the daily activities of a person. The deformities also have significant cosmetic significance and may also be associated with other anomalies. Amongst the congenital anomalies, central deficiency or cleft hand is relatively rare. The association of cleft foot with cleft hand is an even more rare occurance. We present a case report of a 6 year old child, born of a non-consanginous marriage, having congenital central deficiency of ipsilateral hand and foot. PMID:21475543

Familial Congenital Unilateral Cerebral Ventriculomegaly: Delineation of a Distinct Genetic Disorder

PubMed Central

Zaki, Maha S.; Afifi, Hanan H.; Barkovich, AJ.; Gleeson, Joseph G.

2016-01-01

We identified two female siblings, derived from healthy first cousin parents, with congenital unilateral cerebral ventriculomegaly detected prenatally. Patient 1 underwent ventriculoperitoneal shunt operation at 1 week old, while Patient 2 was followed without surgical intervention. Both patients presented with mild developmental delay and hemiparesis contralateral to the involved hemisphere. Focal seizures were observed in Patient 1, whose neuroimaging revealed posterior insular polymicrogyria in the normal sized ventricle hemisphere and retrocerebellar cyst. Both siblings displayed near absence of white matter with marked thinning of the overlying cortex in the affected hemisphere and very thin corpus callosum. Investigations revealed no other system involvement and karyotyping was normal. Normal TORCH screening in subsequent pregnancies, normal parental coagulation profile and undetectable maternal autoantibodies suggested against the possible role of extrinsic factors as an etiological factor for unilateral ventriculomegaly. Parents had normal brain imaging findings. We suggest delineation of a distinct developmental brain defect, most likely of autosomal recessive inheritance. PMID:19610102

Laparoscopic approach for the treatment of chronic groin pain after inguinal hernia repair : Laparoscopic approach for inguinodynia.

PubMed

Ramshaw, Bruce; Vetrano, Vincent; Jagadish, Mayuri; Forman, Brandie; Heidel, Eric; Mancini, Matthew

2017-12-01

Traditional methods of clinical research may not be adequate to improve the value of care for patients with complex medical problems such as chronic pain after inguinal hernia repair. This problem is very complex with many potential factors contributing to the development of this complication. We have implemented a clinical quality improvement (CQI) effort in an attempt to better measure and improve outcomes for patients suffering with chronic groin pain (inguinodynia) after inguinal hernia repair. Between April 2011 and June 2016, there were 93 patients who underwent 94 operations in an attempt to relieve pain (1 patient had two separate unilateral procedures). Patients who had prior laparoscopic inguinal hernia repair (26) had their procedure completed laparoscopically. Patients who had open inguinal hernia repair (68) had a combination of a laparoscopic and open procedure in an attempt to relieve pain. Initiatives to attempt to improve measurement and outcomes during this period included the administration of pre-operative bilateral transversus abdominis plane and intra-operative inguinal nerve blocks using long-acting local anesthetic as a part of a multimodal regimen, the introduction of a low pressure pneumoperitoneum system, and the expansion of a pre-operative questionnaire to assess emotional health pre-operatively. The results included the assessment of how much improvement was achieved after recovery from the operation. Forty-five patients (48%) reported significant improvement, 39 patients (41%) reported moderate improvement, and 10 patients (11%) reported little or no improvement. There were 3 (3%) complications, 13 (11%) hernia recurrences, and 15 patients (13%) developed a new pain in the inguinal region after the initial pain had resolved. The principles of CQI can be applied to a group of patients suffering from chronic pain after inguinal hernia repair. Based on these results additional process improvement ideas will be implemented in an attempt to improve outcomes.

Candidate genes for congenital diaphragmatic hernia from animalmodels: sequencing of fog2 and pdgfra reveals rare variants indiaphragmatic hernia patients

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bleyl, S.B.; Moshrefi, A.; Shaw, G.M.

2007-05-11

Congenital diaphragmatic hernia (CDH) is a common, lifethreatening birth defect. Although there is strong evidence implicatinggenetic factors in its pathogenesis, few causative genes have beenidentified, and in isolated CDH, only one de novo, nonsense mutation hasbeen reported in FOG2 in a female with posterior diaphragmaticeventration. We report here that the homozygous null mouse for the Pdgfragene has posterolateral diaphragmatic defects and thus is a model forhuman CDH. We hypothesized that mutations in this gene could cause humanCDH. We sequenced PDGFRa and FOG2 in 96 patients with CDH, of which 53had isolated CDH (55.2 percent), 36 had CDH and additional anomalies(37.5more » percent), and 7 had CDH and known chromosome aberrations (7.3percent). For FOG2, we identified novel sequence alterations predictingp.M703L and p.T843A in two patients with isolated CDH that were absent in526 and 564 control chromosomes respectively. These altered amino acidswere highly conserved. However, due to the lack of available parental DNAsamples we were not able to determine if the sequence alterations were denovo. For PDGFRa, we found a single variant predicting p.L967V in apatient with CDH and multiple anomalies that was absent in 768 controlchromosomes. This patient also had one cell with trisomy 15 on skinfibroblast culture, a finding of uncertain significance. Although ourstudy identified sequence variants in FOG2 and PDGFRa, we have notdefinitively established the variants as mutations and we found noevidence that CDH commonly results from mutations in thesegenes.« less

Congenital Diaphragmatic Hernia: The Side of Diaphragmatic Defect and Associated Nondiaphragmatic Malformations.

PubMed

Grizelj, Ruža; Bojanić, Katarina; Vuković, Jurica; Weingarten, Toby N; Schroeder, Darrell R; Sprung, Juraj

2017-07-01

Background  Congenital diaphragmatic hernia (CDH) has different clinical presentations depending on whether it is right sided (R-CDH) or left sided (L-CDH). Some have suggested that L-CDH and R-CDH may represent different syndromic phenotypes. This theory would be indirectly supported if different nondiaphragmatic anomalies were associated with laterality. We assessed whether CDH laterality is associated with specific types of nondiaphragmatic anomalies. Methods  Cases of CDH were retrospectively identified from five centers, and associated congenital anomalies, prenatal diagnosis, demographics, birth characteristics, and side of the CDH were analyzed. CDH characteristics were summarized according to the absence (isolated) or presence (complex) of nondiaphragmatic malformations. Results  Among 228 neonates with CDH, 140 (61%) had isolated CDH and 88 (39%) had complex CDH. Complex CDH was significantly associated with being small for gestational age (odds ratio [95% confidence interval, CI]: 8.3 [1.9-35.7]; p  = 0.005) and having L-CDH (odds ratio [95% CI]: 3.6 [1.5-8.9]; p  = 0.005). The overall proportion with anomalies differed by side (42% for L-CDH, 23% for R-CDH; p  = 0.02), but the rates of anomalies in specific organ systems did not differ. Conclusion  The rate of associated nondiaphragmatic anomalies by specific organ system did not differ between L-CDH and R-CDH, which suggests that they represent the same phenotypic entity. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Mothers of Infants With Congenital Diaphragmatic Hernia Describe "Breastfeeding" in the Neonatal Intensive Care Unit: "As Long as It's My Milk, I'm Happy".

PubMed

Froh, Elizabeth B; Deatrick, Janet A; Curley, Martha A Q; Spatz, Diane L

2017-08-01

Very little is known about the breastfeeding experience of mothers of infants born with congenital anomalies and cared for in the neonatal intensive care unit (NICU). Often, studies related to breastfeeding and lactation in the NICU setting are focused on the mothers of late preterm, preterm, low-birth-weight, and very-low-birth-weight infants. Congenital diaphragmatic hernia (CDH) is an anatomic malformation of the diaphragm and affects 1 in every 2,000 to 4,000 live births. Currently, there are no studies examining the health outcomes of infants with CDH and the effect of human milk. Research aim: This study aimed to describe the breastfeeding experience of mothers of infants with CDH cared for in the NICU. A prospective, longitudinal qualitative descriptive design was used. Phased interviews were conducted with a purposive sample of 11 CDH infant-mother dyads from a level 3 NICU in a children's hospital. Six themes emerged from the data: (a) hopeful for breastfeeding, (b) latching on . . . to the pump, (c) we've already worked so hard, (d) getting the hang of it-it's getting easier, (e) a good safety net, and (f) finding a way that works for us. For this population of CDH infant-mother dyads, the term breastfeeding is not exclusive to direct feeding at the breast and the mothers emphasized the significance of providing their own mother's milk through a combination of feeding mechanisms to their infants with CDH.

The Fate of Nephrons in Congenital Obstructive Nephropathy: Adult Recovery is Limited by Nephron Number Despite Early Release of Obstruction.

PubMed

Sergio, Maria; Galarreta, Carolina I; Thornhill, Barbara A; Forbes, Michael S; Chevalier, Robert L

2015-11-01

Urinary tract obstruction and reduced nephron number often occur together as a result of maldevelopment of the kidneys and the urinary tract. We determined the role of nephron number on adaptation of the remaining nephrons of mice subjected to neonatal partial unilateral ureteral obstruction followed through adulthood. Wild-type and Os/+ mice (the latter with 50% fewer nephrons) underwent sham operation or partial unilateral ureteral obstruction in the first 2 days of life. Additional mice underwent release of unilateral ureteral obstruction at 7 days. All kidneys were harvested at 3 weeks (weaning) or 6 weeks (adulthood). Glomerular number and area, glomerulotubular junction integrity, proximal tubular volume fraction and interstitial fibrosis were measured by histomorphometry. In the obstructed kidney unilateral ureteral obstruction caused additional nephron loss in Os/+ but not in wild-type mice. Glomerular growth from 3 to 6 weeks was impaired by ipsilateral obstruction and not preserved by release in wild-type or Os/+ mice. Proximal tubular growth was impaired and interstitial collagen was increased by ipsilateral obstruction in all mice. These conditions were attenuated by release of unilateral ureteral obstruction in wild-type mice but were not restored in Os/+ mice. Unilateral ureteral obstruction increased interstitial collagen in the contralateral kidney while release of obstruction enhanced tubular growth and reduced interstitial collagen. Unilateral ureteral obstruction in early postnatal development impairs adaptation to reduced nephron number and induces additional nephron loss despite release of obstruction. Premature and low birth weight infants with congenital obstructive nephropathy are likely at increased risk for progression of chronic kidney disease. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Piston-pump-type high frequency oscillatory ventilation for neonates with congenital diaphragmatic hernia: a new protocol.

PubMed

Tamura, M; Tsuchida, Y; Kawano, T; Honna, T; Ishibashi, R; Iwanaka, T; Morita, Y; Hashimoto, H; Tada, H; Miyasaka, K

1988-05-01

High frequency ventilation and extracorporeal membrane oxygenation (ECMO) are devices that are expected to save the lives of newborn infants whose pulmonary conditions have deteriorated. A piston-pump-type high-frequency oscillator (HFO), developed by Bryan and Miyasaka called "Hummingbird," is considered to be superior to high frequency "jet" ventilators or those of the flow-interrupter type, and was used successfully in two neonates with congenital diaphragmatic hernia (CDH) in a high-risk group. The first baby was on a conventional ventilator with pharmacologic support for the first 54 hours and then operated on. Postoperative deterioration necessitated the use of HFO for the next eight days. The infant then recovered uneventfully. For the second baby, HFO was necessary both preoperatively and postoperatively. This baby had a major diaphragmatic defect and her case was complicated with pneumothorax. There was a long stormy course on HFO (total, 70 days), but the patient was successfully extubated on the 75th day postoperatively and is now doing well. We believe active long preoperative stabilization with pharmacologic support and preoperative and postoperative hyperventilation with a piston-pump-type HFO may be a new innovative strategy for the management of severe CDH patients.

The transcriptome of nitrofen-induced pulmonary hypoplasia in the rat model of congenital diaphragmatic hernia.

PubMed

Mahood, Thomas H; Johar, Dina R; Iwasiow, Barbara M; Xu, Wayne; Keijzer, Richard

2016-05-01

We currently do not know how the herbicide nitrofen induces lung hypoplasia and congenital diaphragmatic hernia in rats. Our aim was to compare the differentially expressed transcriptome of nitrofen-induced hypoplastic lungs to control lungs in embryonic day 13 rat embryos before the development of embryonic diaphragmatic defects. Using next-generation sequencing technology, we identified the expression profile of microRNA (miRNA) and mRNA genes. Once the dataset was validated by both RT-qPCR and digital-PCR, we conducted gene ontology, miRNA target analysis, and orthologous miRNA sequence matching for the deregulated miRNAs in silico. Our study identified 186 known mRNA and 100 miRNAs which were differentially expressed in nitrofen-induced hypoplastic lungs. Sixty-four rat miRNAs homologous to known human miRNAs were identified. A subset of these genes may promote lung hypoplasia in rat and/or human, and we discuss their associations. Potential miRNA pathways relevant to nitrofen-induced lung hypoplasia include PI3K, TGF-β, and cell cycle kinases. Nitrofen-induced hypoplastic lungs have an abnormal transcriptome that may lead to impaired development.

Antenatal Saireito (TJ-114) Can Improve Pulmonary Hypoplasia and Pulmonary Vascular Remodeling in Nitrofen-Induced Congenital Diaphragmatic Hernia.

PubMed

Hirako, Shima; Tsuda, Hiroyuki; Kotani, Tomomi; Sumigama, Seiji; Mano, Yukio; Nakano, Tomoko; Imai, Kenji; Li, Hua; Toyokuni, Shinya; Kikkawa, Fumitaka

2016-09-01

Congenital diaphragmatic hernia (CDH) can induce lung hypoplasia and pulmonary hypertension and is associated with high mortality. The purpose of this study is to examine the efficacy and safety of antenatal Saireito (TJ-114), a traditional Japanese herbal medicine, in a rat CDH model. Sprague-Dawley rats were exposed to an herbicide (nitrofen, 100 mg) on embryonic day 9 (E9) to induce CDH, and antenatal Saireito (2000 mg/kg/day) was orally administered from E10 to E20. On E21, fetuses were delivered. Antenatal Saireito significantly decreased the incidence of CDH (p < 0.01), increased lung volume (p < 0.01), improved alveolarization and pulmonary artery remodeling using histological analysis, and improved respiratory function using gasometric analysis (pH; p < 0.05, and PCO2 ; p < 0.01). In addition, antenatal Saireito significantly decreased endothelin-1 and endothelin receptor A expression in the pulmonary arteries. Taken together, our results demonstrated that antenatal Saireito can improve fetal pulmonary hypoplasia and pulmonary vascular remodeling and, as a result, can improve respiratory function in a rat CDH model. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia.

PubMed

Ito, Ai; Fujinaga, Hideshi; Matsui, Sachiko; Tago, Kumiko; Iwasaki, Yuka; Fujino, Shuhei; Nagasawa, Junko; Amari, Shoichiro; Kaneshige, Masao; Wada, Yuka; Takahashi, Shigehiro; Tsukamoto, Keiko; Miyazaki, Osamu; Yoshioka, Takako; Ishiguro, Akira; Ito, Yushi

2017-10-01

Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care. An autopsy revealed a left CDH without herniation of the liver or stomach into the thoracic cavity, severe hydrocephalus, Chiari malformation type II, MMC with spina bifida from Th4 to Th12, hemivertebrae, fused ribs, deformities of the thoracic cage and legs, short trunk, and agenesis of the left kidney. Conclusion  We speculate that two factors may be associated with the severe pulmonary hypoplasia: decreased thoracic space due to the herniation of visceral organs caused by CDH and thoracic dysplasia due to skeletal deformity and severe scoliosis.

Long-term neurodevelopmental outcomes of congenital diaphragmatic hernia survivors not treated with extracorporeal membrane oxygenation.

PubMed

Frisk, Virginia; Jakobson, Lorna S; Unger, Sharon; Trachsel, Daniel; O'Brien, Karel

2011-07-01

Although there has been a marked improvement in the survival of children with congenital diaphragmatic hernia (CDH) in the past 2 decades, there are few reports of long-term neurodevelopmental outcome in this population. The present study examined neurodevelopmental outcomes in 10- to 16-year-old CDH survivors not treated with extracorporeal membrane oxygenation (ECMO). Parents of 27 CDH survivors completed questionnaires assessing medical problems, daily living skills, educational outcomes, behavioral problems, and executive functioning. Fifteen CDH survivors and matched full-term controls completed standardized intelligence, academic achievement, phonological processing, and working memory tests. Non-ECMO-treated CDH survivors demonstrated high rates of clinically significant difficulties on standardized academic achievement measures, and 14 of the 27 survivors had a formal diagnosis of specific learning disability, attention deficit hyperactivity disorder, or developmental disability. Specific problems with executive function, cognitive and attentional weaknesses, and social difficulties were more common in CDH patients than controls. Perioperative hypocapnia was linked to executive dysfunction, behavioral problems, lowered intelligence, and poor achievement in mathematics. Non-ECMO-treated CDH survivors are at substantial risk for neurodevelopmental problems in late childhood and adolescence. Copyright © 2011 Elsevier Inc. All rights reserved.

Prophylactic use of the Arabin cervical pessary in fetuses with severe congenital diaphragmatic hernia treated by fetoscopic endoluminal tracheal occlusion (FETO): preliminary experience.

PubMed

Dobrescu, Oana; Cannie, Mieke M; Cordier, Anne-Gael; Rodó, Carlota; Fabietti, Isabella; Benachi, Alexandra; Carreras, Elena; Persico, Nicola; Hurtado, Ivan; Gucciardo, Léonardo; Jani, Jacques C

2016-01-01

The aim of this study was to describe whether the prophylactic use of a cervical pessary decreases the rate of premature birth in congenital diaphragmatic hernia (CDH) fetuses treated with fetoscopic tracheal occlusion (FETO). The study concerns a consecutive series of cases with CDH and FETO and a group of CDH without FETO. In a subgroup of the FETO group, a prophylactic cervical pessary was inserted the day following the procedure. Gestational age (GA) at birth was the primary outcome. Fifty-nine fetuses with FETO and 47 expectantly managed were included. The last 15 FETO had a cervical pessary inserted. The median GA at delivery in the FETO group with pessary was 35.1 weeks and was not different from that in the FETO group without a pessary (34.3 weeks; p = 0.28) but was below that in the expectantly managed group (38.3 weeks; p < 0.001). Early results suggest that prophylactic use of an Arabin cervical pessary does not prolong gestation of CDH fetuses treated with FETO. © 2015 John Wiley & Sons, Ltd. © 2015 John Wiley & Sons, Ltd.

Prematurity and fetal lung response after tracheal occlusion in fetuses with severe congenital diaphragmatic hernia.

PubMed

Sananes, Nicolas; Rodo, Carlota; Peiro, Jose Luis; Britto, Ingrid Schwach Werneck; Sangi-Haghpeykar, Haleh; Favre, Romain; Joal, Arnaud; Gaudineau, Adrien; Silva, Marcos Marques da; Tannuri, Uenis; Zugaib, Marcelo; Carreras, Elena; Ruano, Rodrigo

2016-09-01

To evaluate the independent association of fetal pulmonary response and prematurity to postnatal outcomes after fetal tracheal occlusion for congenital diaphragmatic hernia. Fetal pulmonary response, prematurity (<37 weeks at delivery) and extreme prematurity (<32 weeks at delivery) were evaluated and compared between survivors and non-survivors at 6 months of life. Multivariable analysis was conducted with generalized linear mixed models for variables significantly associated with survival in univariate analysis. Eighty-four infants were included, of whom 40 survived (47.6%) and 44 died (52.4%). Univariate analysis demonstrated that survival was associated with greater lung response (p=0.006), and the absence of extreme preterm delivery (p=0.044). In multivariable analysis, greater pulmonary response after FETO was an independent predictor of survival (aOR 1.87, 95% CI 1.08-3.33, p=0.023), whereas the presence of extreme prematurity was not statistically associated with mortality after controlling for fetal pulmonary response (aOR 0.52, 95% CI 0.12-2.30, p=0.367). Fetal pulmonary response after FETO is the most important factor associated with survival, independently from the gestational age at delivery.

Characterizing cardiac dysfunction in fetuses with left congenital diaphragmatic hernia.

PubMed

Cruz-Lemini, Mónica; Valenzuela-Alcaraz, Brenda; Granados-Montiel, Julio; Martínez, Josep M; Crispi, Fátima; Gratacós, Eduard; Cruz-Martínez, Rogelio

2018-03-23

To evaluate cardiac function by conventional echocardiography and tissue Doppler imaging in fetuses with left congenital diaphragmatic hernia (CDH). Conventional echocardiography (myocardial performance index, ventricular filling velocities, and E/A ratios) and tissue Doppler imaging (annular myocardial peak velocities, E/E' and E'/A' ratios) in mitral, septal, and tricuspid annulus were evaluated in a cohort of 31 left-sided CDH fetuses and compared with 75 controls matched for gestational age 2:1. In comparison to controls, CDH fetuses had prolonged isovolumetric time periods (isovolumetric contraction time 35 ms vs 28 ms, P < .001), with higher myocardial performance index (0.49 vs 0.42, P < .001) and tricuspid E/A ratios (0.77 vs 0.72, P = .033). Longitudinal function assessed by tissue Doppler showed signs of impaired relaxation (mitral lateral A' 8.0 vs 10.1 cm/s, P < .001 and an increased mitral lateral E'/A' ratio 0.93 vs 0.78, P < .001) in the CDH fetuses as compared with controls, with preserved systolic function. Left CDH fetuses show echocardiographic signs of diastolic dysfunction, probably secondary to fetal heart compression, maintaining a preserved systolic function. © 2018 John Wiley & Sons, Ltd.

Selecting patients during the "learning curve" of endoscopic Totally Extraperitoneal (TEP) hernia repair.

PubMed

Schouten, N; Elshof, J W M; Simmermacher, R K J; van Dalen, T; de Meer, S G A; Clevers, G J; Davids, P H P; Verleisdonk, E J M M; Westers, P; Burgmans, J P J

2013-12-01

Totally Extraperitoneal (TEP) hernia surgery is associated with little postoperative pain and a fast recovery, but is a technically demanding operative procedure. Apart from the surgeon's expertise, patient characteristics and hernia-related variations may also affect the operative time and outcome. Patient-related factors predictive of perioperative complications, conversion to open anterior repair, and operative time were studied in a cohort of consecutive patients undergoing TEP hernia repair from 2005 to 2009. A total of 3,432 patients underwent TEP. The mean operative time was 26 min (SD ± 10.9), TEP was converted into an open anterior approach in 26 patients (0.8 %), and perioperative complications were observed in 55 (1.6 %) patients. Multivariable regression analysis showed that a history of abdominal surgery (OR 1.76, 95 per cent confidence interval 1.01-3.06; p = 0.05), and the presence of a scrotal (OR 5.31, 1.20-23.43; p = 0.03) or bilateral hernia (OR 2.25, 1.25-4.06; p = 0.01) were independent predictive factors of perioperative complications. Female gender (OR 5.30. 1.52-18.45; p = 0.01), a history of abdominal surgery (OR 3.96, 1.72- 9.12; p = 0.001), and the presence of a scrotal hernia (OR 34.84, 10.42-116.51, p < 0.001) were predictive factors for conversion. A BMI ≥ 25 (effect size (ES) 1.78, 95 % confidence interval 1.09-2.47; p < 0.001) and the presence of a scrotal (ES 5.81, 1.93-9.68; p = 0.003), indirect (ES 2.78, 2.05- 3.50, p < 0.001) or bilateral hernia (ES 10.19, 9.20-11.08; p < 0.001) were associated with a longer operative time. Certain patient characteristics are, even in experienced TEP surgeons, associated with an increased risk of conversion and complications and a longer operative time. For the surgeon gaining experience with TEP, it seems advisable to select relatively young and slender male patients with a unilateral (non-scrotal) hernia and no previous abdominal surgery to enhance patient safety and 'surgeon comfort'.

Rural surgery in Guinea Bissau: an experience of Doctors Worldwide Turkey.

PubMed

Alimoglu, Orhan; Sagiroglu, Julide; Eren, Tunc; Kinik, Kerem

2015-01-01

In Africa, there is critical shortage of surgeons. Majority of the surgeons work in urban centers, and almost none of them is working in the rural areas. This study documents surgical interventions performed in Guinea-Bissau by Doctors Worldwide Turkey. A group of surgeons from the Doctors Worldwide Turkey performed various surgical interventions in the Simao Mendes, Gabu and Bafata community hospitals. Demographics, surgical methods, anesthesia techniques and complications were recorded. Sixty- four procedures were undertaken between 5-16 February 2010 and 6-11 May 2011. The patient population consisted of 47 male (82.5%) and 10 female (17.5%) patients with a mean age of 44.5 (range: 6-81) years. Five emergency cases were observed. Hartmann's procedure for rectal carcinoma; modified radical mastectomy for breast carcinoma; 2 right total thyroidectomies, 1 bilateral subtotal thyroidectomy; 2 incisional hernia repairs with mesh, 1 breast lumpectomy, 3 mass excisions, 2 keloidectomies, and various techniques of hernia repair for 35 inguinal hernias (4 bilateral, 3 strangulated and 2 coexisting with hydrocele), Winkelmann's procedure for 5 hydroceles (1 bilateral), and unilateral orchiectomy for 1 bilateral hydrocele were recorded. Sixteen patients received general (23.5%), 23 spinal (33.8%), 7 epidural (10.3%), 15 local (22.1%), and 7 ketamine (10.3%) anesthesia. There was no mortality. Surgical diseases, majority of which are hernias threaten public health in underdeveloped regions of Africa. Blitz surgery may be an efficient temporary solution.

Robotic repair of a right-sided Bochdalek hernia: a case report and literature review.

PubMed

Jambhekar, Amani; Robinson, Shawn; Housman, Brian; Nguyen, James; Gu, Kevin; Nakhamiyayev, Vadim

2018-06-01

Bochdalek hernias (BHs) are usually diagnosed in the neonatal period, occurring in 1/2200-1/12,500 live births. There are few reported cases of BHs in adults. Robotic repair has not been described in current literature as opposed to the laparoscopic approach. Here we present a case of an adult with clinical signs of bowel obstruction secondary to a BH which was repaired using a robotic approach. A 74-year-old gentleman with past medical history of benign prostatic hyperplasia presented to the emergency department with a 1-week history of nausea, vomiting, diarrhea, and decline in appetite. Computed tomography (CT) imaging of the chest and abdomen revealed elevation of the right hemidiaphragm and evidence of small bowel obstruction. The patient was managed conservatively with nasogastric tube placement and bowel rest. He underwent colonoscopy which could not be completed secondary to a transverse colon stricture which was confirmed by barium enema. Upon repeat CT imaging, the patient was found to have herniated colon through a right-sided diaphragmatic hernia which caused colonic narrowing. The patient's intestinal obstruction improved clinically with continued conservative management and he underwent robotic repair of a right posterior diaphragmatic hernia. The hernia defect was closed with interrupted figure of eight Ethibond sutures. A right-sided chest tube was placed. Intraoperatively, the herniated proximal transverse colon was noted to be ischemic and a right hemicolectomy was performed. He recovered well and was discharged home on postoperative day 5. Congenital diaphragmatic hernias usually present in the neonatal period and are rare in adults. Operative repair is recommended and laparoscopic repair has been described. Based on the existing literature regarding laparoscopic repair and the current case report, robotic repair also appears to be a viable and safe option.

Congenital anomalies of the pulmonary arteries: spectrum of findings on computed tomography.

PubMed

Bueno, J; Flors, L; Mejía, M

Congenital anomalies of the pulmonary arteries are uncommon. They can occur in isolation or in association with congenital heart defects. Isolated congenital anomalies remain undiscovered until they are reported as incidental findings on imaging tests, usually not until adolescence. We review the embryological development and normal anatomy of the pulmonary arteries as well as the spectrum of computed tomography findings for various congenital anomalies: unilateral interruption of the pulmonary artery, anomalous origin of the left pulmonary artery (pulmonary artery sling), idiopathic aneurysm of the pulmonary artery, and other anomalies associated with congenital heart defects. Congenital anomalies of the pulmonary arteries represent a diagnostic challenge for clinicians and radiologists. Computed tomography is useful for their diagnosis, and general radiologists need to be familiar with their imaging appearance because they are often discovered incidentally. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

Amplification options in unilateral aural atresia: an active middle ear implant or a bone conduction device?

PubMed

Agterberg, Martijn J H; Frenzel, Henning; Wollenberg, Barbara; Somers, Thomas; Cremers, Cor W R J; Snik, Ad F M

2014-01-01

There is no consensus on treatment of patients with congenital unilateral aural atresia. Currently, 3 intervention options are available, namely, surgical reconstruction, application of a bone-conduction device (BCD), or application of a middle ear implant. The present study aims to compare the BCD with the application of a middle ear implant. We hypothesized that cross-hearing (stimulating the cochlea by means of bone conduction contralateral to the implanted side) would cause BCD users to have difficulty performing localization tasks. Audiologic data of 4 adult patients with a middle ear implant coupled directly to the cochlea were compared with data of 4 adult patients fitted with an osseointegrated BCD. All patients were fitted during adulthood. The emphasis of this study is on directional hearing. The middle ear implant and the BCD improved sound localization of patients with congenital unilateral aural atresia. Unaided scores demonstrate a large variation. Our results demonstrate that there was no advantage of the middle ear implant over the BCD for directional hearing in patients who had no amplification in childhood. The BCD users had the best bandwidth.

Same Day Surgery at the 121st General Hospital Seoul, South Korea

DTIC Science & Technology

2006-06-01

SUBCUTANEOUS TISSUE 21 0331 SPINAL TAP 20 2349 OTHER DENTAL RESTORATION 20 5303 UNILATERAL REPAIR, DIRECT INGUINAL HERNIA W GRAFT ,PROSTHESIS 20 6952...OTHER EXCISION, FUSION, AND REPAIR OF TOES 7 7804 BONE GRAFT OF CARPALS AND METACARPALS 7 7867 REMOVAL OF IMPLANTED DEVICES FROM TIBIA AND FIBULA 7...convenience of both the physician and patient (Schneck, 1984). The late 1960s also brought about site changes for outpatients. Prior to 1968, same

Sepsis risk factors in infants with congenital diaphragmatic hernia.

PubMed

Levy, Michaël; Le Sache, Nolwenn; Mokhtari, Mostafa; Fagherazzi, Guy; Cuzon, Gaelle; Bueno, Benjamin; Fouquet, Virginie; Benachi, Alexandra; Eleni Dit Trolli, Sergio; Tissieres, Pierre

2017-12-01

Congenital diaphragmatic hernia (CDH) is a rare congenital anomaly and remains among the most challenging ICU-managed disease. Beside severe pulmonary hypertension, lung hypoplasia and major abdominal surgery, infective complications remain major determinants of outcome. However, the specific incidence of sepsis as well as associated risk factors is unknown. This prospective, 4-year observational study took place in the pediatric intensive care and neonatal medicine department of the Paris South University Hospitals (Le Kremlin-Bicêtre, France), CDH national referral center and involved 62 neonates with CDH. During their ICU stay, 28 patients (45%) developed 38 sepsis episodes. Ventilator-associated pneumonia (VAP: 23/38; 31.9 VAP per 1000 days of mechanical ventilation) and central line-associated blood stream infections (CLABSI: 5/38; 5.5 per 1000 line days) were the most frequently encountered infections. Multivariate analysis showed that gestational age at birth and intra-thoracic position of liver were significantly associated with the occurrence of sepsis. Infected patients had longer duration of mechanical and noninvasive ventilation (16.2 and 5.8 days, respectively), longer delay to first feeding (1.2 days) and a longer length of stay in ICU (23 days), but there was no difference in mortality. Healthcare-associated infections, and more specifically VAP, are the main infective threat in children with CDH. Sepsis has a significant impact on the duration of ventilator support and ICU length of stay but does not impact mortality. Low gestational age and intra-thoracic localization of the liver are two independent risk factors associated with sepsis.

Prosthetic mesh hernioplasty during laparoscopic radical prostatectomy.

PubMed

Teber, Dogu; Erdogru, Tibet; Zukosky, Derek; Frede, Thomas; Rassweiler, Jens

2005-06-01

To evaluate the role of simultaneous laparoscopic mesh prosthetic hernioplasty during laparoscopic radical prostatectomy (LRP), because 5% to 10% of candidates for radical prostatectomy present with a detectable inguinal hernia at their preoperative physical examination. Moreover, data have suggested a greater incidence of inguinal hernia after open radical prostatectomy. During 1035 LRP procedures, 50 laparoscopic mesh prosthetic hernioplasty procedures were performed in 37 patients (3.6%) for 13 bilateral and 24 unilateral inguinal hernias. We compared the outcome of LRP with simultaneous laparoscopic inguinal hernioplasty (group 1) with that of 37 match-paired patients treated by LRP alone (group 2). Both groups were matched according to age, prostate-specific antigen level, prostate volume, pathologic stage, and Gleason score. Perioperative parameters (ie, operative time, analgesic requirements) and postoperative results were analyzed. The patient age was 64.1 +/- 6.4 years versus 62.8 +/- 4.9 years old and had a body mass of 26.5 +/- 3.0 versus 27.4 +/- 3.2 kg/m2 in groups 1 and 2 (with and without laparoscopic hernioplasty), respectively. The mean operating time (221.9 versus 191.2 minutes, P = 0.011) and the total amount of narcotic analgesic requirements (26.8 mg versus 17.5 mg, P = 0.026) was significantly increased in the patients who underwent simultaneous laparoscopic inguinal hernia mesh repair. No statistically significant difference was found in the complication rate (4% versus 2%), median catheter time (7 days), and positive surgical margins (21.8%). Simultaneous repair of inguinal hernia during LRP using prosthetic mesh is feasible without adverse effects on surgical and functional parameters. Neither the transperitoneal nor extraperitoneal approach is associated with an increase in complications or morbidity. However, an extraperitoneal access allows an easier repair without the refixation of the peritoneum.

Surgical repair of incarcerated inguinal hernia in children: laparoscopic or open?

PubMed

Nah, S A; Giacomello, L; Eaton, S; de Coppi, P; Curry, J I; Drake, D P; Kiely, E M; Pierro, A

2011-01-01

The management of Incarcerated Inguinal Hernia (IIH) in children is challenging and may be associated with complications. We aimed to compare the outcomes of laparoscopic vs. open repair of IIH. With institutional ethical approval (09SG13), we reviewed the notes of 63 consecutive children who were admitted to a single hospital with the diagnosis of IIH between 2000 and 2008. Data are reported as median (range). Groups were compared by chi-squared or t-tests as appropriate. · Open repair (n=35): There were 21 children with right and 14 with left IIH. 2 patients also had contralateral reducible inguinal hernia. Small bowel resection was required in 2 children. · Laparoscopic repair (n=28): All children had unilateral IIH (19 right sided, 9 left sided). 15 children (54%) with no clinical evidence of contralateral hernia, had contralateral patent processus vaginalis at laparoscopy, which was also repaired. The groups were similar with regard to gender, age at surgery, history of prematurity, interval between admission and surgery, and proportion of patients with successful preoperative manual reduction. However, the duration of operation was longer in the laparoscopy group (p=0.01). Time to full feeds and length of hospital stay were similar in both groups. Postoperative follow-up was 3.5 months (1-36), which was similar in both groups. 5 patients in the group undergoing open repair had serious complications: 1 vas transaction, 1 acquired undescended testis, 2 testicular atrophy and 1 recurrence. The laparoscopic group had a single recurrence. Open repair of incarcerated inguinal hernia is associated with serious complications. The laparoscopic technique appears safe, avoids the difficult dissection of an oedematous sac in the groin, allows inspection of the reduced hernia content and permits the repair of a contralateral patent processus vaginalis if present. © Georg Thieme Verlag KG Stuttgart · New York.

[Effect of ambroxol on lung development of rat models with nitrofen-induced congenital diaphragmatic hernia].

PubMed

Qiao, Ying-li; Chen, Gong; Xiao, Xian-min; Zheng, Shan; Chen, Lian

2010-09-14

To investigate the effects of ambroxol on rat models with nitrofen-induced congenital diaphragmatic hernia (CDH) and its potential mechanism. Nine pregnant female SD rats were randomly divided into 3 groups at Day 9.5: 2 ml olive oil intragastrically in control group (2 rats) and 200 mg nitrofen in nitrofen (2 rats) and ambroxol groups (5 rats). Antenatal ambroxol was given intraperitoneally to ambroxol group at Days 18.5, 19.5 and 20.5 of gestation while control and nitrofen groups only received intraperitoneal normal saline. At Day 21.5 the fetuses were delivered by cesarean section. Incidence of hernia, lung weight/body weight (LW/BW), mean terminal branch density (MTBD), percentage of lung alveolar area (PLAA), percentage of wall thickness (MT%) and the expression of TGF-β1 were observed. There were 19 CDH fetuses in nitrofen group (68.4%). The incidence of hernia in ambroxol group was 65.1% (28/43). There was no significant difference (P>0.05) between two groups. LW/BW and PLAA decreased while MTBD and MT% increased significantly in the nitrofen group versus the control group [(45±6) mg/g vs (60±7) mg/g, (50.1±4.0)% vs (58.4±3.0)%, (14.0±1.8) vs (8.5±1.1), (45±6)% vs (29±6)%, all P=0.001]. After ambroxol intervention, the ambroxol group showed a higher PLAA but a lower MTBD and MT% [(54.0±2.0)%, (12.2±2.1), (39±4)%] than those in the nitrofen group (P=0.001, 0.006, 0.002). The expression of TGF-β1 in pulmonary tissues of the nitrofen group was significantly higher than that in the control group (13,594±3113 vs 9447±1355, P=0.001). It decreased after ambroxol intervention (10 015±818, P=0.01). Though with no effect upon the occurrence of CDH in rats, the administration of ambroxol may improve the pulmonary maturity. The down-regulated expression of TGF-β1 and the oxidative stability are possible mechanisms.

Transversus Abdominis Plane Block versus Ilioinguinal/Iliohypogastric Nerve Block with Wound Infiltration for Postoperative Analgesia in Inguinal Hernia Surgery: A Randomized Clinical Trial.

PubMed

Sujatha, Chinthavali; Zachariah, Mamie; Ranjan, R V; George, Sagiev Koshy; Ramachandran, T R; Pillai, Anil Radhakrishna

2017-01-01

Various analgesic modalities have been used for postoperative analgesia in patients undergoing inguinal hernia surgery. In this randomized clinical trial, we have compared the analgesic efficacy of transversus abdominis plane (TAP) block with that of ilioinguinal/iliohypogastric (IIIH) nerve block with wound infiltration in patients undergoing unilateral open inguinal hernia repair. The primary objective of this study was to compare the efficacy of postoperative analgesia of ultrasound-guided TAP block and IIIH block with wound infiltration (WI) in patients undergoing open inguinal hernia surgery. This was a randomized clinical trial performed in a tertiary care hospital. Sixty patients scheduled for hernia repair were randomized into two groups, Group T and Group I. Postoperatively, under ultrasound guidance, Group T received 20 ml of 0.25% ropivacaine - TAP block and Group I received 10 ml of 0.25% ropivacaine - IIIH block + WI with 10 ml of 0.25% ropivacaine. The primary outcome measure was the time to rescue analgesia in the first 24 h postoperatively. Fentanyl along with diclofenac was given as first rescue analgesic when the patient complained of pain. Statistical comparisons were performed using Student's t -test and Chi-square test. Mean time to rescue analgesia was 5.900 ± 1.881 h and 3.766 ± 1.754 h ( P < 0.001) and the mean pain scores were 5.73 ± 0.784 and 6.03 ± 0.850 for Group TAP and IIIH + WI, respectively. Hemodynamics were stable in both the groups. One-third of the patients received one dose of paracetamol in addition to the rescue analgesic in the first 24 h. There were no complications attributed to the block. As a multimodal analgesic regimen, definitely both TAP block and IIIH block with wound infiltration have a supporting role in providing analgesia in the postoperative period for adult inguinal hernia repair. In this study, ultrasound-guided TAP block provided longer pain control postoperatively than IIIH block with WI after inguinal hernia repair. There were no complications attributed to the blocks in either of the group.

A MATERIAL COST-MINIMIZATION ANALYSIS FOR HERNIA REPAIRS AND MINOR PROCEDURES DURING A SURGICAL MISSION IN THE DOMINICAN REPUBLIC

PubMed Central

Cavallo, Jaime A.; Ousley, Jenny; Barrett, Christopher D.; Baalman, Sara; Ward, Kyle; Borchardt, Malgorzata; Thomas, J. Ross; Perotti, Gary; Frisella, Margaret M.; Matthews, Brent D.

2013-01-01

INTRODUCTION Expenditures on material supplies and medications constitute the greatest per capita costs for surgical missions. We hypothesized that supply acquisition at nonprofit organization (NPO) costs would lead to significant cost-savings compared to supply acquisition at US academic institution costs from the provider perspective for hernia repairs and minor procedures during a surgical mission in the Dominican Republic (DR). METHODS Items acquired for a surgical mission were uniquely QR-coded for accurate consumption accounting. Both NPO and US academic institution unit costs were associated with each item in an electronic inventory system. Medication doses were recorded and QR-codes for consumed items were scanned into a record for each sampled procedure. Mean material costs and cost savings ± SDs were calculated in US dollars for each procedure type. Cost-minimization analyses between the NPO and the US academic institution platforms for each procedure type ensued using a two-tailed Wilcoxon matched-pairs test with α=0.05. Item utilization analyses generated lists of most frequently used materials by procedure type. RESULTS The mean cost savings of supply acquisition at NPO costs for each procedure type were as follows: $482.86 ± $683.79 for unilateral inguinal hernia repair (IHR, n=13); $332.46 ± $184.09 for bilateral inguinal hernia repair (BIHR, n=3); $127.26 ± $13.18 for hydrocelectomy (HC, n=9); $232.92 ± $56.49 for femoral hernia repair (FHR, n=3); $120.90 ± $30.51 for umbilical hernia repair (UHR, n=8); $36.59 ± $17.76 for minor procedures (MP, n=26); and $120.66 ± $14.61 for pediatric inguinal hernia repair (PIHR, n=7). CONCLUSION Supply acquisition at NPO costs leads to significant cost-savings compared to supply acquisition at US academic institution costs from the provider perspective for IHR, HC, UHR, MP, and PIHR during a surgical mission to DR. Item utilization analysis can generate minimum-necessary material lists for each procedure type to reproduce cost-savings for subsequent missions. PMID:24162140

The Determination of Nursing Manpower Requirements in Humanitarian Assistance Missions for Hospital Ships

DTIC Science & Technology

2007-06-01

cleft lips and cleft palates which resulted in lower volume and slightly higher acuity. Other cases such as orthopedics and gynecology are performed at...nutritional and metabolic diseases, and immunity disorders. The category of congenital anomalies involved surgical repairs of cleft lips and... palates , while the category for diseases of the digestive system included patients with hernias. In contrast, the category for diseases of the nervous

Stomach position in prediction of survival in left-sided congenital diaphragmatic hernia with or without fetoscopic endoluminal tracheal occlusion.

PubMed

Cordier, A-G; Jani, J C; Cannie, M M; Rodó, C; Fabietti, I; Persico, N; Saada, J; Carreras, E; Senat, M-V; Benachi, A

2015-08-01

To investigate the value of fetal stomach position in predicting postnatal outcome in left-sided congenital diaphragmatic hernia (CDH) with and without fetoscopic endoluminal tracheal occlusion (FETO). This was a retrospective review of CDH cases that were expectantly managed or treated with FETO, assessed from May 2008 to October 2013, in which we graded, on a scale of 1-4, stomach position on the four-chamber view of the heart with respect to thoracic structures. Logistic regression analysis was used to investigate the effect of management center (Paris, Brussels, Barcelona, Milan), stomach grading, observed-to-expected lung area-to-head circumference ratio (O/E-LHR), gestational age at delivery, birth weight in expectantly managed CDH, gestational ages at FETO and at removal and period of tracheal occlusion, on postnatal survival in CDH cases treated with FETO. We identified 67 expectantly managed CDH cases and 47 CDH cases that were treated with FETO. In expectantly managed CDH, stomach position and O/E-LHR predicted postnatal survival independently. In CDH treated with FETO, stomach position and gestational age at delivery predicted postnatal survival independently. In left-sided CDH with or without FETO, stomach position is predictive of postnatal survival. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

Dual-Hit Hypothesis Explains Pulmonary Hypoplasia in the Nitrofen Model of Congenital Diaphragmatic Hernia

PubMed Central

Keijzer, Richard; Liu, Jason; Deimling, Julie; Tibboel, Dick; Post, Martin

2000-01-01

Pulmonary hypoplasia associated with congenital diaphragmatic hernia (CDH) remains a major therapeutic problem. Moreover, the pathogenesis of pulmonary hypoplasia in case of CDH is controversial. In particular, little is known about early lung development in this anomaly. To investigate lung development separate from diaphragm development we used an in vitro modification of the 2,4-dichlorophenyl-p-nitrophenylether (Nitrofen) animal model for CDH. This enabled us to investigate the direct effects of Nitrofen on early lung development and branching morphogenesis in an organotypic explant system without the influence of impaired diaphragm development. Epithelial cell differentiation of the lung explants was assessed using surfactant protein-C and Clara cell secretory protein-10 mRNA expression as markers. Furthermore, cell proliferation and apoptosis were investigated. Our results indicate that Nitrofen negatively influences branching morphogenesis of the lung. Initial lung anlage formation is not affected. In addition, epithelial cell differentiation and cell proliferation are attenuated in lungs exposed to Nitrofen. These data indicate that Nitrofen interferes with early lung development before and separate from (aberrant) diaphragm development. Therefore, we postulate the dual-hit hypothesis, which explains pulmonary hypoplasia in CDH by two insults, one affecting both lungs before diaphragm development and one affecting the ipsilateral lung after defective diaphragm development. PMID:10751355

Improved pulmonary function in the nitrofen model of congenital diaphragmatic hernia following prenatal maternal dexamethasone and/or sildenafil.

PubMed

Burgos, Carmen Mesas; Pearson, Erik G; Davey, Marcus; Riley, John; Jia, Huimin; Laje, Pablo; Flake, Alan W; Peranteau, William H

2016-10-01

Pulmonary hypoplasia and hypertension is a leading cause of morbidity and mortality in congenital diaphragmatic hernia (CDH). The etiologic insult occurs early in gestation highlighting the potential of prenatal interventions. We evaluated prenatal pharmacologic therapies in the nitrofen CDH model. Olive oil or nitrofen were administered alone or with dexamethasone (DM), sildenafil, or DM+sildenafil to pregnant rats. Newborn pups were assessed for lung function, structure and pulmonary artery (PA) flow and resistance. Prenatal DM treatment of CDH pups increased alveolar volume density (Vva), decreased interalveloar septal thickness, increased tidal volumes and improved ventilation without improving oxygenation or PA resistance. Sildenafil decreased PA resistance and improved oxygenation without improving ventilation or resulting in significant histologic changes. DM+sildenafil decreased PA resistance, improved oxygenation and ventilation while increasing Vva and decreasing interalveolar septal and pulmonary arteriole medial wall thickness. Lung and body weights were decreased in pups treated with DM and/or sildenafil. Prenatal DM or sildenafil treatment increased pulmonary compliance and decreased pulmonary vascular resistance respectively, and was associated with improved neonatal gas exchange but had a detrimental effect on lung and fetal growth. This study highlights the potential of individual and combined prenatal pharmacologic therapies for CDH management.

Elastase and matrix metalloproteinase activities are associated with pulmonary vascular disease in the nitrofen rat model of congenital diaphragmatic hernia.

PubMed

Wild, Benjamin; St-Pierre, Marie-Eve; Langlois, Stéphanie; Cowan, Kyle N

2017-05-01

Pulmonary vascular disease (PVD) is a leading cause of congenital diaphragmatic hernia (CDH) mortality. Progression of PVD involves extracellular matrix remodeling by elastases and matrix metalloproteinases (MMP), concomitant with proliferation of smooth muscle cells in a growth factor-enriched environment. Blockade of this pathway reversed primary pulmonary hypertension and improved survival. This study was designed to determine whether a similar pathway is induced in PVD secondary to CDH. Fetal rats exposed to nitrofen at gestational day 9 developed left-sided CDH and were compared at term to their non-CDH littermates by assessing histologic and biochemical features of PVD. Rats with CDH displayed right ventricle hypertrophy, increased pulmonary artery medial wall thickness and muscularization, and decreased lumen size. As revealed by in situ zymography and immunohistochemistry, this was associated with an induction of elastolytic and MMP activities as well as an elevation of epidermal growth factor and osteopontin levels in the diseased lung vasculature. CDH-associated PVD involves an induction of elastase and MMP activities and increased osteopontin deposition in an epidermal growth factor-rich environment. Inhibition of this pathway may thus represent a novel therapeutic approach for the treatment of CDH-associated PVD. Level I (Basic Science Study). Copyright © 2017 Elsevier Inc. All rights reserved.

Prognostic usefulness of derived T2-weighted fetal magnetic resonance imaging measurements in congenital diaphragmatic hernia.

PubMed

Sebastià, C; Gomez, O; Salvador, R; Buñesch, L; Garcia, R; Nicolau, C

2015-01-01

To determine the usefulness of various parameters based on T2-weighted fetal magnetic resonance (MR) imaging measurements of the uninvolved lung for the neonatal prognosis of congenital diaphragmatic hernia (CDH). We used ultrasonography and MR imaging to study 28 fetuses with CDH. We retrospectively analyzed a) on fetal ultrasonography, the observed-to-expected lung to head ratio (O/E LHR) and the position of the liver, and b) on fetal MR imaging, the lung-liver signal ratio (LLSR) and the lungcerebrospinal fluid ratio (L/CSF SR). To determine the prognostic value of these parameters, we compared them with the following postnatal parameters: survival, pulmonary hypertension, need for oxygen supplementation, and need for extracorporeal membrane oxygenation. We found significant differences between O/E LHR and the need for postnatal extracorporeal membrane oxygenation (P=.033) and postnatal survival (P=.01). We also found significant differences in LLSR between fetuses that survived more than 45 days and those that died within 45 days (1.91 vs. 2.56; P=.039). In fetuses with CDH, the LLSR correlates with postnatal survival and can potentially be used as a prognostic parameter in CDH. Copyright © 2013 SERAM. Published by Elsevier España, S.L.U. All rights reserved.

Outcome in fetuses with isolated congenital diaphragmatic hernia with increased nuchal translucency thickness in first trimester.

PubMed

Spaggiari, E; Stirnemann, J; Ville, Y

2012-03-01

To examine the possible association between increased nuchal translucency (NT) thickness in the first trimester and perinatal outcome in isolated congenital diaphragmatic hernia (CDH). We conducted a retrospective study between January 2004 and June 2010. The database was searched to identify all consecutive cases of CDH referred to the fetal medicine center of Necker Hospital in Paris. Enlarged NT was defined above the 95th centile. Only children born alive with an isolated CDH were selected for the analysis of prognostic factors. We also studied the correlation between NT thickness in the first trimester and lung-to-head ratio, observed to expected lung area-to-head ratio, lung volume estimated by magnetic resonance imaging, and other prenatal features of intrathoracic compression. Seventy-one cases of isolated CDH were available. The fetal NT was above the 95th centile in 9 of the 71 cases. Neonatal death occurred in 7/9 (78%) cases with enlarged NT, compared with 24/62 (38%) with normal NT (P = 0.035). Enlarged NT was significantly associated with prenatal features of intrathoracic compression. Enlarged NT thickness in CDH is associated with a poor outcome and is related to an early intrathoracic compression. © 2012 John Wiley & Sons, Ltd.

Prenatal surgery for congenital diaphragmatic hernia.

PubMed

Au-Yeung, Jeff Ying-Kit; Chan, Kwong-Leung

2003-10-01

Congenital diaphragmatic hernia (CDH) has a mortality rate of up to 77% despite optimal pre- and postnatal care. Fetuses with liver herniation, a low lung-to-head ratio, and an early diagnosis before 24 weeks have a particularly poor prognosis. In utero open repair of these fetuses does not improve patient survival. The PLUG (Plug the Lung Until it Grows) technique was reported to be able to reverse pulmonary hypoplasia in CDH. A foam plug or a titanium clip is used and the trachea can be unplugged using Ex Utero Intrapartum Tracheoplasty (EXIT) at birth. Since hysterotomy causes premature labour, a video-fetoscopic intrauterine technique of tracheal occlusion called Fetendo-PLUG was developed. Compared to those who receive standard postnatal care or fetal tracheal occlusion via open hysterotomy, patients who undergo Fetendo-PLUG are reported to have a higher survival rate of 75% and fewer fetal and maternal complications. A recent refinement is to use a detachable balloon for intratracheal occlusion through a single 5 mm port under real-time ultrasound guidance. Without the need for neck dissection, injury to the recurrent laryngeal nerves and trachea and vocal cord paresis can be minimized. The result of this form of treatment for CDH is promising, but further refinement of fetal instrumentation and development of effective tocolytic drugs are still required.

Lung volumes, ventricular function and pulmonary arterial flow in children operated on for left-sided congenital diaphragmatic hernia: long-term results.

PubMed

Abolmaali, Nasreddin; Koch, Arne; Götzelt, Knut; Hahn, Gabriele; Fitze, Guido; Vogelberg, Christian

2010-07-01

To compare MRI-based functional pulmonary and cardiac measurements in the long-term follow-up of children operated on for left-sided congenital diaphragmatic hernia (CDH) with age- and body size-matched healthy controls. Twelve children who received immediate postnatal surgery for closure of isolated left-sided CDH were included and received basic medical examinations, pulmonary function testing and echocardiography. MRI included measurement of lung volume, ventricular function assessment and velocity-encoded imaging of the pulmonary arteries and was compared with the data for 12 healthy children matched for age and body size. While patients' clinical test results were not suspicious, comparison between the MRI data for patients and those for healthy controls revealed significant differences. In patients, the volumes of the left lungs were increased and the tidal volume was larger on the right side. While the stroke volumes of both ventricles were reduced, heart rate and ejection fraction were increased. Flow, acceleration time and cross-sectional area of the left pulmonary artery were reduced. Functional MRI detected pulmonary and cardiac findings in the late follow-up of CDH children which may be missed by standard clinical methods and might be relevant for decisions regarding late outcome and treatment.

Rural surgery in Guinea Bissau: an experience of Doctors Worldwide Turkey

PubMed Central

Alimoglu, Orhan; Sagiroglu, Julide; Eren, Tunc; Kinik, Kerem

2015-01-01

OBJECTIVE: In Africa, there is critical shortage of surgeons. Majority of the surgeons work in urban centers, and almost none of them is working in the rural areas. This study documents surgical interventions performed in Guinea-Bissau by Doctors Worldwide Turkey. METHODS: A group of surgeons from the Doctors Worldwide Turkey performed various surgical interventions in the Simao Mendes, Gabu and Bafata community hospitals. Demographics, surgical methods, anesthesia techniques and complications were recorded. RESULTS: Sixty- four procedures were undertaken between 5–16 February 2010 and 6–11 May 2011. The patient population consisted of 47 male (82.5%) and 10 female (17.5%) patients with a mean age of 44.5 (range: 6–81) years. Five emergency cases were observed. Hartmann’s procedure for rectal carcinoma; modified radical mastectomy for breast carcinoma; 2 right total thyroidectomies, 1 bilateral subtotal thyroidectomy; 2 incisional hernia repairs with mesh, 1 breast lumpectomy, 3 mass excisions, 2 keloidectomies, and various techniques of hernia repair for 35 inguinal hernias (4 bilateral, 3 strangulated and 2 coexisting with hydrocele), Winkelmann’s procedure for 5 hydroceles (1 bilateral), and unilateral orchiectomy for 1 bilateral hydrocele were recorded. Sixteen patients received general (23.5%), 23 spinal (33.8%), 7 epidural (10.3%), 15 local (22.1%), and 7 ketamine (10.3%) anesthesia. There was no mortality. CONCLUSION: Surgical diseases, majority of which are hernias threaten public health in underdeveloped regions of Africa. Blitz surgery may be an efficient temporary solution. PMID:28058367

Incidence of environmental and genetic factors causing congenital cataract in Children of Lahore.

PubMed

Naz, Shagufta; Sharif, Saima; Badar, Hafsa; Rashid, Farzana; Kaleem, Afshan; Iqtedar, Mehwish

2016-07-01

To check the incidence of environmental and genetic factors causing congenital cataract in infants. The descriptive study was conducted at Layton Rahmatullah Benevolent Trust, Lahore, Pakistan, from October 2013 to April 2014, and comprised children under 15 years of age who had rubella syndrome, herpes simplex, birth trauma, trisomy 21, Nance-Horan syndrome or Lowe's syndrome. Of the 38,000 cases examined, 120(0.3%) patients were diagnosed with congenital cataract. Of them, 52(43.33%)were aged between 2 and 5 years,22(18.33%) <11 years and 10(8.33%) ?15 years. Bilateral congenital cataract was observed in 91(75.83%) patients and unilateral congenital cataract in 29(24.17%). Environmental factors caused 72(62.07%) cases and genetic factors caused 44(37.93%).. Congenital cataract predominated in boys compared to girls. Early diagnosis and adequate therapy requires specific technology, as well as long-term and permanent care..

Poland syndrome a rare congenital anomaly.

PubMed

Ibrahim, Aliyu; Ramatu, Abdallah; Helen, Akhiwu

2013-07-01

Poland syndrome is a rare congenital anomaly classically consisting of unilateral hypoplasia of the sternocostal head of the pectoralis major muscle and ipsilateral brachysyndactyly. It was first described by Alfred Poland in 1840 and may occur with different gravity. Our patient is an eight-year-old Nigerian girl with left-sided anterior chest wall defect with no detectable structural heart abnormality but presented with repeated episodes of syncopal attacks following minor trauma to the anterior chest wall.

Umbilical cord sparing technique for repair of congenital hernia into the cord and small omphalocele.

PubMed

Ceccanti, Silvia; Falconi, Ilaria; Frediani, Simone; Boscarelli, Alessandro; Musleh, Layla; Cozzi, Denis A

2017-01-01

Current repair of small omphaloceles and hernias into the umbilical cord is a straightforward procedure, whose repair may result in a suboptimal cosmetic outcome. We describe a novel repair technique retaining the umbilical cord elements in an attempt to improve the cosmetic appearance of the umbilicus. Eight neonates were consecutively treated more than a ten-year period. Size of the fascial defects ranged 1 to 3cm (median, 2). Present technique entails incision of the amniotic sac without its detachment from the skin, reduction of the extruded contents under direct vision, and closure of the abdominal wall defect by circumferential suturing of peritoneum and fascia around the base of the amniotic sac. The amniotic sac is then re-approximated and folded to create an umbilical stump, which is trimmed and left to shed naturally. All patients achieved a scarless abdomen with a normal appearing umbilicus in 6. The remaining 2 patients are awaiting surgery for persisting umbilical hernia repair and umbilicoplasty, respectively. Poor esthetic outcome was significantly associated with initial fascial defect ≥2.5cm in size (p=0.03). Present technique is a simple and cosmetically appealing repair for umbilical cord hernias and small omphaloceles, especially effective when the size of the fascial defect is less than 2.5cm. IV (Treatment Study). Copyright © 2017 Elsevier Inc. All rights reserved.

Open versus laparoscopic unilateral inguinal hernia repairs: defining the ideal BMI to reduce complications.

PubMed

Willoughby, Ashley D; Lim, Robert B; Lustik, Michael B

2017-01-01

Open inguinal hernia repair is felt to be a less expensive operation than a laparoscopic one. Performing open repair on patients with an obese body mass index (BMI) results in longer operative times, longer hospital stay, and complications that will potentially impose higher cost to the facility and patient. This study aims to define the ideal BMI at which a laparoscopic inguinal hernia repair will be advantageous over open inguinal hernia repair. The NSQIP database was analyzed for (n = 64,501) complications, mortality, and operating time for open and laparoscopic inguinal hernia repairs during the time period from 2005 to 2012. Bilateral and recurrent hernias were excluded. Chi-square tests and Fisher's exact tests were used to assess associations between type of surgery and categorical variables including demographics, risk factors, and 30-day outcomes. Multivariable regression analyses were performed to determine whether odds ratios differed by level of BMI. The HCUP database was used for determining difference in cost and length of stay between open and laparoscopic procedures. There were 17,919 laparoscopic repairs and 46,582 open repairs in the study period. The overall morbidity (across all BMI categories) is statistically greater in the open repair group when compared to the laparoscopic group (p = 0.03). Postoperative complications (including wound disruption, failure to wean from the ventilator, and UTI) were greater in the open repair group across all BMI categories. Deep incisional surgical site infections (SSI) were more common in the overweight open repair group (p = 0.026). The return to the operating room across all BMI categories was statistically significant for the open repair group (n = 269) compared to the laparoscopic repair group (n = 70) with p = 0.003. There was no difference in the return to operating room between the BMI categories. The odds ratio (OR) was found to be statistically significant when comparing the obese category to both normal and overweight populations for the open procedure. Open hernia repairs have more complications than do laparoscopic ones; however, there does not appear to be a difference in treating obese patients with hernias using a laparoscopic approach versus an open one. One may consider using a laparoscopic approach in overweight patients (BMI 25-29.9) as there appears to be fewer deep SSI.

Efficacy of laparoscopically assisted high ligation of patent processus vaginalis in children.

PubMed

Ahmed, H; Youssef, M K; Salem, E A; Fawzi, A M; Desoky, E A E; Eliwa, A M; Sakr, A M N; Shahin, A M S

2016-02-01

Laparoscopic hernia repairs have been proven to be efficient and safe for children, despite the slightly higher recurrence rate compared with the classic surgical repair. They have the advantage of easy and precise identification of the type of defect and its correction, both in ipsilateral and contralateral sides. The objectives of this study were to evaluate the efficacy, safety and outcome of the laparoscopically assisted piecemeal high ligation of a patent processus vaginalis (PPV) in children. A total of 40 children were enrolled into this prospective study; they were aged ≥ 6 months and had an inguinal hernia. The peritoneal cavity, including the contralateral side, was inspected for the possibility of bilateral hernias using a 3-mm 30° telescope. Another 3-mm port was introduced through the same infra-umbilical incision. The hernia was manually reduced or with the aid of a working infra-umbilical grasper. A prolene or vicryl 2/0 or 3/0 suture on a curved semicircle round-bodied taper-ended 25-30 mm needle was introduced through a very small inguinal skin-crease incision. It was passed through the abdominal wall layers to the peritoneum and was manipulated by the laparoscopic grasper to pick up the peritoneum in piecemeal all around the internal ring. The needle was then pushed to the outside near to the entrance site, thus forming a semicircle around the internal ring. The suture was then tied and the knot was subcutaneously buried. The primary outcome of the procedure was the incidence of intraoperative diagnosis and surgical repair of contralateral hernias in pre-operatively diagnosed unilateral cases. The secondary outcomes were defined as the incidence of complications and hernia recurrence. The exploratory laparoscopy found contralateral patent processus vaginalis (CPPV) with a detection rate of 28.1%. Chan et al., Esposito et al., Toufique et al. and Niyogi et al. reported similar figures for laparoscopic contralateral hernia detection rates of 28%, 39%, 39.7% and 29.2%, respectively. The limitations of this study were the small sample size, plus the risk factors and clinical significance for CPPV. Laparascopically assisted piecemeal closure of the internal inguinal ring in children is a safe and effective procedure. It helps in detecting a contralateral hernia without prolonging the operative time. Copyright © 2015 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Unilateral hearing during development: hemispheric specificity in plastic reorganizations

PubMed Central

Kral, Andrej; Heid, Silvia; Hubka, Peter; Tillein, Jochen

2013-01-01

The present study investigates the hemispheric contributions of neuronal reorganization following early single-sided hearing (unilateral deafness). The experiments were performed on ten cats from our colony of deaf white cats. Two were identified in early hearing screening as unilaterally congenitally deaf. The remaining eight were bilaterally congenitally deaf, unilaterally implanted at different ages with a cochlear implant. Implanted animals were chronically stimulated using a single-channel portable signal processor for two to five months. Microelectrode recordings were performed at the primary auditory cortex under stimulation at the hearing and deaf ear with bilateral cochlear implants. Local field potentials (LFPs) were compared at the cortex ipsilateral and contralateral to the hearing ear. The focus of the study was on the morphology and the onset latency of the LFPs. With respect to morphology of LFPs, pronounced hemisphere-specific effects were observed. Morphology of amplitude-normalized LFPs for stimulation of the deaf and the hearing ear was similar for responses recorded at the same hemisphere. However, when comparisons were performed between the hemispheres, the morphology was more dissimilar even though the same ear was stimulated. This demonstrates hemispheric specificity of some cortical adaptations irrespective of the ear stimulated. The results suggest a specific adaptation process at the hemisphere ipsilateral to the hearing ear, involving specific (down-regulated inhibitory) mechanisms not found in the contralateral hemisphere. Finally, onset latencies revealed that the sensitive period for the cortex ipsilateral to the hearing ear is shorter than that for the contralateral cortex. Unilateral hearing experience leads to a functionally-asymmetric brain with different neuronal reorganizations and different sensitive periods involved. PMID:24348345

Unilateral hearing during development: hemispheric specificity in plastic reorganizations.

PubMed

Kral, Andrej; Heid, Silvia; Hubka, Peter; Tillein, Jochen

2013-01-01

The present study investigates the hemispheric contributions of neuronal reorganization following early single-sided hearing (unilateral deafness). The experiments were performed on ten cats from our colony of deaf white cats. Two were identified in early hearing screening as unilaterally congenitally deaf. The remaining eight were bilaterally congenitally deaf, unilaterally implanted at different ages with a cochlear implant. Implanted animals were chronically stimulated using a single-channel portable signal processor for two to five months. Microelectrode recordings were performed at the primary auditory cortex under stimulation at the hearing and deaf ear with bilateral cochlear implants. Local field potentials (LFPs) were compared at the cortex ipsilateral and contralateral to the hearing ear. The focus of the study was on the morphology and the onset latency of the LFPs. With respect to morphology of LFPs, pronounced hemisphere-specific effects were observed. Morphology of amplitude-normalized LFPs for stimulation of the deaf and the hearing ear was similar for responses recorded at the same hemisphere. However, when comparisons were performed between the hemispheres, the morphology was more dissimilar even though the same ear was stimulated. This demonstrates hemispheric specificity of some cortical adaptations irrespective of the ear stimulated. The results suggest a specific adaptation process at the hemisphere ipsilateral to the hearing ear, involving specific (down-regulated inhibitory) mechanisms not found in the contralateral hemisphere. Finally, onset latencies revealed that the sensitive period for the cortex ipsilateral to the hearing ear is shorter than that for the contralateral cortex. Unilateral hearing experience leads to a functionally-asymmetric brain with different neuronal reorganizations and different sensitive periods involved.

Incarceration of Meckel's diverticulum through a ventral incisional defect: a rare presentation of Littre's hernia.

PubMed

Salemis, N S

2009-08-01

Meckel's diverticulum is the most common congenital abnormality of the gastrointestinal tract and is the result of the incomplete obliteration of the omphalomesenteric duct. Herniation of Meckel's diverticulum is called Littre's hernia and is a rare occurrence. Herein is described an extremely rare case of incarcerated and strangulated Meckel's diverticulum through an incisional ventral defect in a 59-year-old female patient, who presented with manifestations of acute surgical abdomen. At emergency laparotomy, a strangulated small-bowel loop containing a Meckel's diverticulum was found, which had migrated through the subcutaneous tissues to the right iliac fossa, where a painful mass was palpated on admission. Segmental resection of the ischemic ileum was performed and the abdomen was closed without the use of a prosthetic mesh. Histopathological findings were suggestive of a true diverticulum containing heterotopic gastric mucosa.

Renal Aplasia in Humans Is Associated with RET Mutations

PubMed Central

Skinner, Michael A.; Safford, Shawn D.; Reeves, Justin G.; Jackson, Margaret E.; Freemerman, Alex J.

2008-01-01

In animal models, kidney formation is known to be controlled by the proteins RET, GDNF, and GFRA1; however, no human studies to date have shown an association between abnormal kidney development and mutation of these genes. We hypothesized that stillborn fetuses with congenital renal agenesis or severe dysplasia would possess mutations in RET, GDNF, or GFRA1. We assayed for mutations in these genes in 33 stillborn fetuses that had bilateral or unilateral renal agenesis (29 subjects) or severe congenital renal dysplasia (4 subjects). Mutations in RET were found in 7 of 19 fetuses with bilateral renal agenesis (37%) and 2 of 10 fetuses (20%) with unilateral agenesis. In two fetuses, there were two different RET mutations found, and a total of ten different sequence variations were identified. We also investigated whether these mutations affected RET activation; in each case, RET phosphorylation was either absent or constitutively activated. A GNDF mutation was identified in only one fetus with unilateral agenesis; this subject also had two RET mutations. No GFRA1 mutations were seen in any fetuses. These data suggest that in humans, mutations in RET and GDNF may contribute significantly to abnormal kidney development. PMID:18252215

Amniotic Band Syndrome: A Review of 2 Cases.

PubMed

Madan, Siddharth; Chaudhuri, Zia

2018-04-03

Amniotic band syndrome is a rare congenital disorder caused by entrapment of fetal parts (usually a limb or digits) in fibrous amniotic bands while in utero that presents with complex multisystem anomalies. The authors report 2 children with amniotic band syndrome who presented to the ophthalmic unit of the authors' pediatric hospital. One of them presented with telecanthus, syndactyly, amputated toes, and unilateral epiphora diagnosed as congenital nasolacrimal duct obstruction. She was managed conservatively with lacrimal sac massage and provided with refractive correction while she simultaneously underwent multiple surgeries for correction of clubfoot and craniosynostosis. The second patient presented with cleft lip, cleft palate, multiple constriction bands in upper limbs and fingers with unilateral microphthalmos, microcornea, typical iris coloboma, and retinochoroidal coloboma, very similar to a case reported in literature. These 2 cases provide an overview of the clinical spectrum of ophthalmic manifestations along with their staged optimum rehabilitation.

Aetiology of congenital and paediatric cataract in an Australian population

PubMed Central

Wirth, M G; Russell-Eggitt, I M; Craig, J E; Elder, J E; Mackey, D A

2002-01-01

Background/aim: Paediatric cataract is a major cause of childhood blindness. Several genes associated with congenital and paediatric cataracts have been identified. The aim was to determine the incidence of cataract in a population, the proportion of hereditary cataracts, the mode of inheritance, and the clinical presentation. Methods: The Royal Children's Hospital and the Royal Victorian Eye and Ear Hospital have a referral base for almost all paediatric patients with cataracts in south eastern Australia. The database contains cases seen over the past 25 years. The medical histories of these patients were reviewed. Results: 421 patients with paediatric cataract were identified, which gives an estimated incidence of 2.2 per 10 000 births. Of the 342 affected individuals with a negative family history, 50% were diagnosed during the first year of life, and 56/342 (16%) were associated with a recognised systemic disease or syndrome. Unilateral cataract was identified in 178/342 (52%) of sporadic cases. 79 children (from 54 nuclear families) had a positive family history. Of these 54 families, 45 were recruited for clinical examination and DNA collection. Ten nuclear families were subsequently found to be related, resulting in four larger pedigrees. Thus, 39 families have been studied. The mode of inheritance was autosomal dominant in 30 families, X linked in four, autosomal recessive in two, and uncertain in three. In total, 178 affected family members were examined; of these 8% presented with unilateral cataracts and 43% were diagnosed within the first year of life. Conclusions: In the paediatric cataract population examined, approximately half of the patients were diagnosed in the first year of life. More than 18% had a positive family history of cataracts. Of patients with hereditary cataracts 8% presented with unilateral involvement. Identification of the genes that cause paediatric and congenital cataract should help clarify the aetiology of some sporadic and unilateral cataracts. PMID:12084750

Decreased Rac1 Cardiac Expression in Nitrofen-Induced Diaphragmatic Hernia.

PubMed

Nakamura, Hiroki; Zimmer, Julia; Puri, Prem

2018-02-01

 The high incidence of cardiac malformations in humans and animal models with congenital diaphragmatic hernia (CDH) is well known. The hypoplasia of left heart is common among fetuses with CDH and has been identified as a poor prognostic factor. However, the precise mechanisms underlying cardiac maldevelopment in CDH are not fully understood. Ras-related C3 botulinum toxin substrate 1 (Rac1) plays a key role in cardiomyocyte polarity and embryonic heart development. Deficiency of Rac1 is reported to impair elongation and cytoskeletal organization of cardiomyocytes, resulting in congenital cardiac defects. We designed this study to test the hypothesis that Rac1 expression is downregulated in the developing hearts of rats with nitrofen-induced CDH.  Following ethical approval (REC1103), time-pregnant Sprague Dawley rats received nitrofen or vehicle on gestational day 9 (D9). Fetuses were sacrificed on D18 and D21 and divided into CDH and control (CTRL) ( n  = 6 for each group and time point). Quantitative real-time polymerase chain reaction (qRT-PCR), Western blotting, and confocal-immunofluorescence microscopy were performed to detect cardiac gene and protein expression of Rac1.  qRT-PCR and Western blot analysis revealed that Rac1 expression was significantly decreased in the CDH group compared with controls ( p  < 0.05). Confocal-immunofluorescence microscopy revealed that Rac1 cardiac expression was markedly decreased in the CDH group compared with controls.  Decreased cardiac Rac1 expression in the nitrofen-induced CDH suggests that Rac1 deficiency during morphogenesis may impair structural cardiac remodeling, resulting in congenital cardiac defects. Georg Thieme Verlag KG Stuttgart · New York.

Environmental factors in the etiology of esophageal atresia and congenital diaphragmatic hernia: results of a case-control study.

PubMed

Felix, Janine F; van Dooren, Marieke F; Klaassens, Merel; Hop, Wim C J; Torfs, Claudine P; Tibboel, Dick

2008-02-01

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) and congenital diaphragmatic hernia (CDH) are severe congenital anomalies. Their etiologies are mostly unknown and are thought to be multifactorial. No specific environmental factors have consistently been described as risk factors. In a study conducted during the years 2000 to 2004 in a pediatric surgical referral center in the Netherlands, parents of children with EA/TEF or with CDH of the Bochdalek type and parents of a group of children without major birth defects filled out a questionnaire about possible exposure to environmental risk factors during the period from 1 month before conception to the end of the first trimester of pregnancy. Children with chromosomal anomalies were excluded. Questionnaires were returned for 47 out of 64 cases (73%) with EA/TEF, for 63 out of 77 cases (82%) with CDH, and for 202 out of 243 controls (83%). In EA/TEF, maternal age was borderline significantly higher than in controls (32.2 vs. 30.6 years, p = .05). Contact with herbicides or insecticides was associated with EA/TEF in univariate analysis (OR 2.0; 95% CI: 1.0-4.1) and in multivariate analysis, although of borderline significance. In univariate analysis, CDH was significantly associated with maternal use of alcohol (OR 2.9; 95% CI: 1.6-5.2). We found a significant association between maternal alcohol use around the time of conception and CDH. A possible explanation might be the effect of alcohol on the retinoic acid pathway. An association was found between contact with herbicides or insecticides and EA/TEF. (c) 2008 Wiley-Liss, Inc.

The Upturned Superior Mesenteric Artery Sign for First-Trimester Detection of Congenital Diaphragmatic Hernia and Omphalocele.

PubMed

Lakshmy, Ravi Selvaraj; Agnees, Joy; Rose, Nity

2017-03-01

The aim of this study was to follow the course of the superior mesenteric artery (SMA) in first-trimester fetuses to predict the location of the small bowel. Its abnormal course aids in early detection of congenital diaphragmatic hernia (CDH) and assessment of the contents of omphalocele. The SMA can be easily identified in a sagittal section of the fetus by using color Doppler sonography at the 11- to 14-week scan, and normally, it has a downward course caudally to supply the intestines. The course of the SMA points to the location of the bowel. We report a series of 7 cases detected in first trimester with an abnormal course of the SMA, 3 of which had CDH and 4 of which had omphalocele. In CDH, the intestines herniate into the thoracic cavity; hence, the SMA tends to have an upward course toward the thorax. In 4 cases of omphalocele, the SMA follows the exteriorized bowel into the base of the umbilical cord. Second-trimester sonography for detection of congenital malformations is a standardized protocol, but a careful anatomic survey at the 11- to 14-week scan is often rewarding. When there is a suspicion of an intrathoracic mass or a mediastinal shift, the upturned course of SMA serves as a valuable sign in confirmation of CDH. Chromosomal abnormalities are often reported in cases of omphalocele containing small bowel only, and the upward course of the SMA toward the base of the cord helps in its early prenatal diagnosis, which facilitates early genetic assessment in these fetuses. © 2017 by the American Institute of Ultrasound in Medicine.

[Congenital stenosis of interventricular foramina revealed by recurrent intracranial hypertension].

PubMed

Ben Achour, N; Kraoua, I; Rouissi, A; Benrhouma, H; Ben Youssef-Turki, I; Jemel, H; Gouider-Khouja, N

2013-04-01

Non-tumoral stenosis of interventricular foramen is a rare clinical condition. It can be either unilateral, causing monoventricular hydrocephalus, or bilateral leading to biventricular hydrocephalus. The pathophysiology of this misdiagnosed entity remains controversial. The non-tumoral stenosis of interventricular foramen can be either acquired or congenital. The latter usually manifesting with a neonatal hydrocephalus. We report a case of congenital bilateral stenosis of interventricular foramen, in an 8-year-old girl, revealed by recurrent intracranial hypertension. Diagnosis was relied on 3D-CISS sequences MRI. The child showed full recovery after neuroendoscopic septal fenestration and ventriculo-peritoneal shunt. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy.

PubMed

Parsa, Cameron F; Robert, Matthieu P

2013-04-01

To propose a pathophysiologic mechanism to unify a variety of disparate sporadic congenital malformations. Inductive and deductive analyses to correlate malformation laterality with asymmetries in thoracic anatomy, critical analysis of malformations with female predominance, and concepts of hydrodynamic pressure gradients in vascular growth were applied to the ensuing development of guiding tissue scaffolds for cellular proliferation, differentiation, and apoptosis. Duane syndrome may develop following a focal vascular insult to the sixth nerve trunk with axonal degeneration, allowing for substitutive innervation from third nerve axons to the lateral rectus muscle. Causative fibrin clots may originate from the venous system and paradoxically migrate through physiological right-to left shunts, or they may arise directly from the heart. Hence, the unilateral, left-sided, and female predominance of Duane syndrome results from the asymmetry in the thoracic anatomy and from thrombosis risk factors. Embolic occlusions may also alter local hemodynamic pressure gradients, leading to the compensatory enlargement and persistence of the fetal vasculature and may dysregulate tissue growth. Within the eye, this results in forms of Peters anomaly, unilateral congenital cataracts, and the morning glory disc anomaly, all in the vascular territory of the carotid arteries that also share a propensity for left-sided involvement in girls. Most aberrant misinnervation phenomena (eg, jaw-winking syndrome, crocodile tear syndrome, Brown syndrome, and congenital fibrosis syndrome) and, by extrapolation, the hypoplasia or dysgenesis of noncephalic anatomical structures (including limbs) may be similarly explained. Such malformations will occur more frequently under thrombogenic conditions, such as those induced by thalidomide. Fibrin emboli and focal hypoperfusion may explain the development of many sporadic congenital malformations.

[Importance of occlusion therapy for amblyopia in partial unilateral congenital cataracts that are discovered late].

PubMed

Denion, E; Dedes, V; Bonne, M; Labalette, P; Berger, C; Guilbert, F; Bouckehove, S; Rouland, J-F

2004-11-01

The aim of this study is to investigate the importance of occlusion therapy for amblyopia in patients with partial unilateral congenital cataracts that were discovered after 24 months of age. A retrospective study was conducted on 11 patients, each of whom underwent a clinical examination including a cycloplegic refraction with atropine. The average age when the cataract was diagnosed was 35 months. The average distance visual acuity was 6/78 and the average near visual acuity was 35/175. Occlusion therapy using adhesive patches was started after refractive error correction. In two cases, observance was mediocre. Ametropia was found in every patient, with anisometropia in nine patients (alpha < 0.02). This anisometropia included an astigmatism that was always greater on the side with the cataract (alpha < 0.001), averaging 2.7 diopters. After occlusion therapy for amblyopia, the average visual acuity significantly improved to 6/22 in distance vision (alpha < 0.02) and 35/45 in near vision (alpha < 0.01). The average follow-up period was 28 months (5-60 months). Amblyopia is related to lens opacities as well as frequently associated anisometropia. Functional improvement is greater in near vision than in distance vision. With occlusion therapy for amblyopia, accommodation is preserved. This factor is of utmost importance as near vision is preferential in young children. This study provides an opportunity to recall the importance of refraction and occlusion therapy for amblyopia, which must be systematically attempted in cases of partial unilateral congenital cataracts before considering a surgical procedure.

Role of tissue expansion in abdominal wall reconstruction: A systematic evidence-based review.

PubMed

Wooten, Kimberly E; Ozturk, Cemile Nurdan; Ozturk, Can; Laub, Peter; Aronoff, Nell; Gurunluoglu, Raffi

2017-06-01

Tissue expanders (TEs) can be used to assist primary closure of complicated hernias and large abdominal wall defects. However, there is no consensus regarding the optimal technique, use, or associated risk of TE in abdominal wall reconstruction. A systematic search of PubMed and Embase databases was conducted to identify articles reporting abdominal wall reconstruction with TE techniques. English articles published between 1980 and 2016 were included on the basis of the following inclusion criteria: two-stage TE surgical technique, >3 cases, reporting of postoperative complications, hernia recurrence, and patient-based clinical data. Fourteen studies containing 103 patients (85 adults and 18 children) were identified for analysis. Most patients presented with a skin-grafted ventral hernia (n = 86). The etiology of the hernia was from trauma or prior abdominal surgery. The remaining patients had TE placed before organ transplantation (n = 12) or for congenital abdominal wall defects (n = 5). The location for expander placement was subcutaneous (n = 74), between the internal and external obliques (n = 26), posterior to the rectus sheath (n = 2), and intra-peritoneal (n = 1). Postoperative infections and implant-related problems were the most commonly reported complications after Stage I. The most common complication after Stage II was recurrent hernia, which was observed in 12 patients (11.7%). Five patients with TE died. Complications and mortality were more prevalent in children, immunosuppressed patients, and those with chronic illnesses. Tissue expansion for abdominal wall reconstruction can be successfully used for a variety of carefully selected patients with an acceptable complication and risk profile. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Academic performance in adolescence after inguinal hernia repair in infancy: a nationwide cohort study.

PubMed

Hansen, Tom G; Pedersen, Jacob K; Henneberg, Steen W; Pedersen, Dorthe A; Murray, Jeffrey C; Morton, Neil S; Christensen, Kaare

2011-05-01

Although animal studies have indicated that general anesthetics may result in widespread apoptotic neurodegeneration and neurocognitive impairment in the developing brain, results from human studies are scarce. We investigated the association between exposure to surgery and anesthesia for inguinal hernia repair in infancy and subsequent academic performance. Using Danish birth cohorts from 1986-1990, we compared the academic performance of all children who had undergone inguinal hernia repair in infancy to a randomly selected, age-matched 5% population sample. Primary analysis compared average test scores at ninth grade adjusting for sex, birth weight, and paternal and maternal age and education. Secondary analysis compared the proportions of children not attaining test scores between the two groups. From 1986-1990 in Denmark, 2,689 children underwent inguinal hernia repair in infancy. A randomly selected, age-matched 5% population sample consists of 14,575 individuals. Although the exposure group performed worse than the control group (average score 0.26 lower; 95% CI, 0.21-0.31), after adjusting for known confounders, no statistically significant difference (-0.04; 95% CI, -0.09 to 0.01) between the exposure and control groups could be demonstrated. However, the odds ratio for test score nonattainment associated with inguinal hernia repair was 1.18 (95% CI, 1.04-1.35). Excluding from analyses children with other congenital malformations, the difference in mean test scores remained nearly unchanged (0.05; 95% CI, 0.00-0.11). In addition, the increased proportion of test score nonattainment within the exposure group was attenuated (odds ratio = 1.13; 95% CI, 0.98-1.31). In the ethnically and socioeconomically homogeneous Danish population, we found no evidence that a single, relatively brief anesthetic exposure in connection with hernia repair in infancy reduced academic performance at age 15 or 16 yr after adjusting for known confounding factors. However, the higher test score nonattainment rate among the hernia group could suggest that a subgroup of these children are developmentally disadvantaged compared with the background population.

Bilateral laparoscopic totally extraperitoneal repair without mesh fixation.

PubMed

Dehal, Ahmed; Woodward, Brandon; Johna, Samir; Yamanishi, Frank

2014-01-01

Mesh fixation during laparoscopic totally extraperitoneal repair is thought to be necessary to prevent recurrence. However, mesh fixation may increase postoperative chronic pain. This study aimed to describe the experience of a single surgeon at our institution performing this operation. We performed a retrospective review of the medical records of all patients who underwent bilateral laparoscopic totally extraperitoneal repair without mesh fixation for inguinal hernia from January 2005 to December 2011. Demographic, operative, and postoperative data were obtained for analysis. A total of 343 patients underwent simultaneous bilateral laparoscopic totally extraperitoneal repair of 686 primary and recurrent inguinal hernias from January 2005 to December 2011. The mean operative time was 33 minutes. One patient was converted to an open approach (0.3%), and 1 patient had intraoperative bladder injury. Postoperative hematoma/seroma occurred in 5 patients (1.5%), wound infection in 1 (0.3%), hematuria in 2 (0.6%), and acute myocardial infarction in 1 (0.3%). Chronic pain developed postoperatively in 9 patients (2.6%); 3 of them underwent re-exploration. All patients were discharged home a few hours after surgery except for 3 patients. Among the 686 hernia repairs, there were a total of 20 recurrences (2.9%) in 18 patients (5.2%). Two patients had bilateral recurrences, whereas 16 had unilateral recurrences. Twelve of the recurrences occurred after 1 year (60%). Fourteen recurrences occurred among direct hernias (70%). Compared with the literature, our patients had fewer intraoperative and postoperative complications, less chronic pain, and no increase in operative time or length of hospital stay but had a slight increase in recurrence rate.

Ultrasound-guided transversus abdominis plane block in patients undergoing open inguinal hernia repair: 0.125% bupivacaine provides similar analgesic effect compared to 0.25% bupivacaine.

PubMed

Erdoğan Arı, Dilek; Yıldırım Ar, Arzu; Karadoğan, Firdevs; Özcabı, Yetkin; Koçoğlu, Ayşegül; Kılıç, Fatih; Akgün, Fatma Nur

2016-02-01

To evaluate the effectiveness of 0.125% bupivacaine compared to 0.25% bupivacaine for ultrasound-guided transversus abdominis plane (TAP) block in patients undergoing open inguinal hernia repair. Randomized, double-blind study. Educational and research hospital. Forty adult patients of American Society of Anesthesiologists physical status I-III undergoing elective primary unilateral open inguinal hernia repair under spinal anesthesia. Patients in group I received 20 mL of 0.25% bupivacaine, whereas patients in group II received 20 mL of 0.125% bupivacaine for TAP block at the end of the surgery. Pain intensity was assessed at rest and during coughing using 10-cm visual analog scale score at 5, 15, 30, and 45 minutes and 1, 2, 4, 6, 12, and 24 hours after TAP block. Morphine consumption and time to first morphine requirement were recorded. Visual analog scale scores at rest and during coughing were not significantly different between groups at all time points measured. Twenty-four hours of morphine consumption (7.72±7.33 mg in group I and 6.06±5.20 mg in group II; P=.437) and time to first morphine requirement (182.35±125.16 minutes in group I and 143.21±87.28 minutes in group II; P=.332) were not different between groups. 0.125% Bupivacaine provides similar analgesic effect compared to 0.25% bupivacaine for ultrasound-guided TAP block in patients undergoing open inguinal hernia repair. Copyright © 2016 Elsevier Inc. All rights reserved.

Patient-reported adverse events after hernia surgery and socio-economic status: A register-based cohort study.

PubMed

Wefer, Agnes; Gunnarsson, Ulf; Fränneby, Ulf; Sandblom, Gabriel

2016-11-01

The aim of the present study was to assess how socio-economic background influences perception of an adverse postoperative event after hernia surgery, and to see if this affects the pattern of seeking healthcare advice during the early postoperative period. All patients aged 15 years or older with a primary unilateral inguinal or femoral hernia repair recorded in the Swedish Hernia Register (SHR) between November 1 and December 31, 2002 were sent a questionnaire inquiring about adverse events. Data on civil status, income, level of education and ethnic background were obtained from Statistics Sweden. Of the 1643 patients contacted, 1440 (87.6%) responded: 1333 (92.6%) were men and 107 (7.4%) women, mean age was 59 years. There were 203 (12.4%) non-responders. Adverse events were reported in the questionnaire by 390 (27.1%) patients. Patients born in Sweden and patients with high income levels reported a significantly higher incidence of perceived adverse events (p < 0.05). Patients born in Sweden and females reported more events requiring healthcare contact. There was no association between registered and self-reported outcome and civil status or level of education. We detected inequalities related to income level, gender and ethnic background. Even if healthcare utilization is influenced by socio-economic background, careful information of what may be expected in the postoperative period and how adverse events should be managed could lead to reduced disparity and improved quality of care in the community at large. Copyright © 2016 IJS Publishing Group Ltd. Published by Elsevier Ltd. All rights reserved.

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.

PubMed

Kuroda, Yukiko; Saito, Toshiyuki; Nagai, Jun-Ichi; Ida, Kazumi; Naruto, Takuya; Masuno, Mitsuo; Kurosawa, Kenji

2015-02-01

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disease characterized by gastrointestinal polyposis and mucocutaneous pigmentation. Germline point mutations in the serine/threonine kinase 11 (STK11) have been identified in about 70% of patients with PJS. Only a few large genomic deletions have been identified. We report on a girl with PJS and multiple congenital anomalies. She had intellectual disability, umbilical hernia, bilateral inguinal hernias, scoliosis, and distinct facial appearance including prominent mandible, smooth philtrum, and malformed ears. She developed lip pigmentation at the age of 12 years but had no gastrointestinal polyps. Array comparative genomic hybridization revealed an approximately 610 kb deletion at 19p13.3, encompassing STK11. Together with previous reports, the identification of common clinical features suggests that microdeletion at 19p13.3 encompassing STK11 constitutes a distinctive phenotype. © 2014 Wiley Periodicals, Inc.

Is There a Right Ear Advantage in Congenital Aural Atresia?

PubMed

Reed, Robert; Hubbard, Matthew; Kesser, Bradley W

2016-12-01

To compare speech/language development and academic progress between children with right versus left congenital aural atresia (CAA). Case control survey and review of audiometric data. Tertiary care academic practice. Children with unilateral CAA. Demographic and audiometric data; rates of grade retention, use of any hearing or learning resource, and behavioral problems. No significant differences in grade retention rate, utilization of amplification, speech language therapy, use of an individualized education program, or frequency modulated system were found between children with right versus left CAA. Children with left CAA were significantly more likely to be enrolled in special education programs (p = 0.026). Differences in reported communication problems approached significance with more difficulty noted in the right ear group (p = 0.059). Left CAA patients were also more likely to have reported behavioral problems (p = 0.0039). Contrary to the hypothesis that a normal hearing right ear confers a language advantage in patients with unilateral hearing loss, children with left CAA (normal right ear) were statistically more likely to be enrolled in a special education program and have behavioral problems. Reported communication problems were more common in right CAA patients, but this did not reach statistical significance. No differences were found in use of amplification, frequency modulated system, individualized education program, or grade retention. Further investigation of both the clinical implications and underlying psychoacoustics of unilateral hearing loss and the identification and habilitation of "at risk" unilateral hearing loss children is warranted.

Evaluation of the occurrence of canine congenital sensorineural deafness in puppies of predisposed dog breeds using the brainstem auditory evoked response.

PubMed

Płonek, Marta; Giza, Elżbieta; Niedźwiedź, Artur; Kubiak, Krzysztof; Nicpoń, Józef; Wrzosek, Marcin

2016-12-01

Canine congenital sensorineural deafness (CCSD) affects predisposed breeds of dogs and is primarily caused by an atrophy of the stria vascularis of the organ of Corti. The analysis of the brainstem auditory evoked response (BAER) is a reliable method for the evaluation of hearing in animals as it allows an accurate detection of unilateral or bilateral deafness. The occurrence of unilateral and bilateral deafness using the BAER was determined in a representative group of dogs in Poland, including Bull Terriers (n = 117), Australian Cattle Dogs (n = 62), English Setters (n = 32) and the Dogo Argentino (n = 32). Overall deafness, deafness in each dog breed and an association between deafness and phenotype were studied. Among the 243 dogs tested, 156 (81%) had a normal BAER, 27 (11%) were unilaterally deaf, and 12 (5%) were bilaterally deaf. The amplitudes and latencies of waves I, II, III, V, the V/I wave amplitude ratio, and wave I-V, I-III and III-V inter-peak intervals were recorded for each dog. Unilaterally and bilaterally deaf dogs were present in all the dog breeds studied. There were 17 (14.5%) deaf Bull Terriers, three (4.8%) deaf Australian Cattle Dogs, seven (21.9%) deaf English Setters, and 12 (37.5%) deaf Dogos Argentinos. Preventive BAER screening should be routinely performed in these four breeds to prevent the spread of genes responsible for deafness.

Holt-Oram syndrome and diaphragmatic hernia associate with paracentric inversion of chromosome 8

DOE Office of Scientific and Technical Information (OSTI.GOV)

Eswara, M.S.; Batanian, J.R.

1994-09-01

Holt-Oram syndrome (HOS) consists of congenital heart disease, usually atrial septal defect, along with thumb anomalies and occasionally more extensive limb defects. Inheritance is autosomal dominant. Previous reports have associated HOS with cytogenetic abnormalities on chromosomes 4, 14 and 20. Recently a linkage study has suggested a HOS locus on chromosome 12. We describe another case of HOS with a de novo cytogenetic abnormality. On prenatal ultrasound, IUGR, oligohydramnios and left diaphragmatic hernia were noted. Following delivery, patient was placed on extra-corporeal membrane oxygenation because of severe lung hypoplasia; diaphragmatic hernia was repaired with mesh graft. He expired on daymore » 17 of life. On exam, he had subtle dysmorphic features with hypotelorism and abnormal folding of the ear lobes. He had bilateral radial aplasia, aplasia of thumbs, index and middle fingers, along with the metacarpals. On autopsy he was found to have atrial septal defect of the ostium secundum type, right side aortic arch with vascular ring formation, bicuspid pulmonic valve and severe lung hypoplasia worse on the left. Cytogenetic analysis on blood and skin showed 48,XX,inv(8)(q24.2q13). Chromosome fragility study was negative. Parental chromosomes were normal. Our observation of inv(8)q with HOS and diaphragmatic hernia may indicate genetic heterogeneity with this condition. Regulation of morphogenesis is likely under the control of a hierarchy of genes; multiple loci for conditions such as HOS would not be surprising.« less

Rate of increase of lung-to-head ratio over the course of gestation is predictive of survival in left-sided congenital diaphragmatic hernia.

PubMed

Partridge, Emily A; Peranteau, William H; Herkert, Lisa; Rintoul, Natalie E; Flake, Alan W; Adzick, N Scott; Hedrick, Holly L

2016-05-01

Congenital diaphragmatic hernia (CDH) is associated with high postnatal mortality because of pulmonary hypoplasia. The prognostic utility of serial lung-to-head circumference measurements as a marker of lung growth has not been described. Our objective was to examine the relationship between the rate of interval increase of LHR and postnatal survival in left-sided CDH. We retrospectively reviewed charts of all left-sided CDH patients from January 2004 to July 2014. All ultrasound studies performed at our institution (n=473) were reviewed. Categorical and continuous data were analyzed by chi-square and Mann-Whitney t-test, respectively, and slope analysis was performed by linear regression analysis (p<0.05). A total of 226 patients were studied, with 154 long-term survivors and 72 non-survivors. Established markers of CDH severity, including intrathoracic liver position and requirement for patch repair, were significantly increased in non-survivors (p<0.0001). The rate of LHR increase as measured by linear regression and slope analysis was significantly increased in long-term survivors (p=0.0175). Our findings indicate that the interval increase in LHR levels over the course of gestation correlate with survival in left-sided CDH patients. Regular ultrasonographic re-evaluation of LHR throughout gestation following diagnosis of CDH may provide prognostic insight and help guide patient management. Copyright © 2016. Published by Elsevier Inc.

Lung to head ratio in infants with congenital diaphragmatic hernia does not predict long term pulmonary hypertension.

PubMed

Garcia, Alejandro V; Fingeret, Abbey L; Thirumoorthi, Arul S; Hahn, Eunice; Leskowitz, Matthew J; Aspelund, Gudrun; Krishnan, Usha S; Stolar, Charles J H

2013-01-01

Lung-to-head ratio (LHR) has been used for antenatal evaluation of infants with congenital diaphragmatic hernia (CDH). We hypothesized that LHR was predictive of acute and chronic pulmonary hypertension in infants with CDH. Echocardiograms on all inborn infants with CDH (December 2001-March 2011) were reviewed. Echocardiograms at 1 and 3 months post-repair and most recent follow-up were assessed for presence of pulmonary hypertension (PAH). LHR, gestational age, birth weight, extracorporeal membrane oxygenation (ECMO), and death rate were obtained. Bivariate and multivariate analyses were performed. 106 infants with CDH had LHR obtained at median 28 weeks gestation (median LHR=1.25 [range 0.4-5.3]). Median follow-up was 26.6 months (range 4.6-97.5). The long-term incidence of pulmonary hypertension was 16%. LHR was significantly associated with pulmonary hypertension at one month (p=0.0001) but not at 3 months (p=0.22) or long-term (p=0.54). LHR was predictive of ECMO use (p=0.01) and death (p=0.001). The overall incidence of PAH in infants with CDH decreases over time. Prenatal LHR predicts PAH at one month but not long-term in infants with CDH. The ability for LHR to predict PAH at one month but not long term may suggest remodeling of the pulmonary vasculature over time. Copyright © 2013 Elsevier Inc. All rights reserved.

Antenatal assessment of liver position, rather than lung-to-head ratio (LHR) or observed/expected LHR, is predictive of outcome in fetuses with isolated left-sided congenital diaphragmatic hernia.

PubMed

Straňák, Zbyněk; Krofta, Ladislav; Haak, Lucia Anna; Vojtěch, Jiří; Hašlík, Luboš; Rygl, Michal; Pýcha, Karel; Feyereisl, Jaroslav

2017-01-01

Respiratory morbidity in congenital diaphragmatic hernia (CDH) is associated with high mortality and adverse outcome. Accurate prenatal diagnosis is essential for prognosis and potential treatment in utero. The aim was to evaluate the prenatal ultrasound findings in assessing the respiratory prognosis in fetuses with isolated left-sided CDH. We retrospectively analyzed the medical records of 59 prenatally diagnosed left-sided CDH cases managed at a tertiary perinatal center. Survival rate in the study group was 73% (43/59). We found no statistically significant relationship between survival and the presence of polyhydramnios, gestational age at diagnosis, lung-to-head ratio (LHR) and observed/expected LHR (O/E LHR) values, gestational age at birth and birth weight. Intrathoracic liver herniation was a statistically significant parameter adversely affecting survival (37.2% in survivors, 68.8% in non-survivors, p = 0.031) and logistic regression confirmed this relationship. The presence of pneumothorax and severe pulmonary hypertension were significantly associated with mortality (82% non-survivors versus 15% in survivors, p = 0.0001). Intrathoracic liver herniation seems to be a reliable parameter in the prediction of survival and neonatal respiratory morbidity in fetuses with isolated left-sided CDH. In contrast, we found no significant correlation between perinatal outcome and LHR, O/E LHR values, birth weight and gestational age.

Stomach position versus liver-to-thoracic volume ratio in left-sided congenital diaphragmatic hernia.

PubMed

Cordier, Anne-Gaël; Cannie, Mieke M; Guilbaud, Lucie; De Laveaucoupet, Jocelyne; Martinovic, Jéléna; Nowakowska, Dorota; Milejska-Lewandowska, Malgorzata; Rodó, Carlota; Viaris de Lesegno, Benjamin; Votino, Carmela; Senat, Marie-Victoire; Jani, Jacques C; Benachi, Alexandra

2015-01-01

To describe a new grading method for stomach position (SP) in fetuses with left-sided congenital diaphragmatic hernia (L-CDH) using ultrasound and to correlate SP to liver position and to liver-to-thoracic cavity volume ratio (LiTR) using magnetic resonance imaging. SP were graded at the level of the 4-chamber view as following: grade 1-to-4 for stomach not visualised, visualised anteriorly at the apex of the heart, stomach showing abdominal structures anteriorly and stomach with its larger part posterior to the level of the atrial-ventricular heart valves, respectively. The LiTR was calculated and correlated to SP using the Mann-Whitney U test. Seventy-four fetuses were included. Median LiTR for grade 1 SP was 0% and was not different from median LiTR for grade 2 SP (0%, p=NS). Median LiTR for grade 3 SP was 14.9% and was significantly higher than for grade 2 SP (p<0.001). Similarly, median LiTR for grade 4 SP was 20.7% and was significantly higher than for grade 3 SP (p<0.05). When SP was grade 1 or 2, liver was intra-abdominal in 21 (84%) out of 25 fetuses while it was always intrathoracic for SP 3 or 4. In L-CDH, SP as described represents a simple indirect measurement of intrathoracic position and quantification of liver.

Fetal stomach and gallbladder in contact with the bladder wall is a common ultrasound sign of stomach-down left congenital diaphragmatic hernia.

PubMed

Morgan, Tara A; Basta, Amaya; Filly, Roy A

2017-01-01

The aim of this study was to identify sonographic (US) findings that can assist in prenatal diagnosis of stomach-down left congenital diaphragmatic hernia (CDH), specifically related to positioning of the abdominal contents including the stomach, bladder, and gallbladder. All US examinations with a postnatally confirmed diagnosis of stomach-down left CDH over a 13-year period were retrospectively reviewed for abnormal position of the abdominal contents, including whether the fetal stomach was in contact with the urinary bladder. Normal fetuses that underwent comprehensive US surveys were similarly evaluated for comparison in a 2:1 ratio. Twenty-two fetuses with stomach-down left CDH were identified in a cohort of 278 fetuses with left CDH. In 15/22 (68.2%) cases of stomach-down left CDH, the bladder and stomach walls were in contact. Contact of the fetal gallbladder with the fetal bladder wall was also observed and was present even more commonly (17/22 cases [77.3%]). There was no case of either the stomach or gallbladder in contact with the bladder wall in the normal fetal cohort (n = 44). Recognition of the fetal stomach and/or gallbladder in contact with the bladder wall can help in the detection of stomach-down left CDH. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:8-13, 2017. © 2016 Wiley Periodicals, Inc.

Acute gastrointestinal compromise in neonates with congenital diaphragmatic hernia prior to repair.

PubMed

Fox, Catherine; Stewart, Michael; King, Sebastian K; Patel, Neil

2016-12-01

Congenital diaphragmatic hernia (CDH) affects 1 in 3000 live births. Modern management strategies include delayed repair of the diaphragm to permit pre-operative optimization of cardiorespiratory status. We describe a cohort of neonates in whom early emergency operative intervention was required for potentially fatal intestinal compromise. A retrospective review was performed of all neonatal CDH patients managed at a tertiary center in an 8-year period (2005-2012). A total of 126 CDH patients were managed during the 8-year period. Five neonates (male - 1; gestation 37+4-39+7; birth weight 2.9-3.7kg; left CDH - 5) required emergency operative intervention for presumed gastrointestinal compromise. All five neonates demonstrated systemic hypotension despite inotropic support, raised serum lactate (>2mmol/L), and abnormal radiographic findings. Operative intervention occurred within 3days of birth (1-3days). Findings included gastric volvulus, jejunal volvulus, and perforated caecum. All patients underwent primary diaphragmatic repair without a patch. Temporary ileostomy was required in 1 patient. All patients remain alive. Gastrointestinal compromise is a rare, but potentially catastrophic, complication of CDH. Emergency operative intervention may be required in a select cohort of patients. Early deterioration following birth should alert clinicians to the possibility of significant intestinal pathology. Level IV case series with no comparison group. Copyright © 2016 Elsevier Inc. All rights reserved.

Ghrelin expression in human and rat fetal lungs and the effect of ghrelin administration in nitrofen-induced congenital diaphragmatic hernia.

PubMed

Santos, Marta; Bastos, Pedro; Gonzaga, Silvia; Roriz, José-Mário; Baptista, Maria J; Nogueira-Silva, Cristina; Melo-Rocha, Gustavo; Henriques-Coelho, Tiago; Roncon-Albuquerque, Roberto; Leite-Moreira, Adelino F; De Krijger, Ronald R; Tibboel, Dick; Rottier, Robbert; Correia-Pinto, Jorge

2006-04-01

Ghrelin is a strong physiologic growth hormone secretagogue that exhibits endocrine and non-endocrine actions. In this study, ghrelin expression in humans and rats was evaluated throughout development of normal and hypoplastic lungs associated with congenital diaphragmatic hernia (CDH). Additionally, the effect of antenatal treatment with ghrelin in the nitrofen-induced CDH rat model was tested. In normal lungs, ghrelin was expressed in the primitive epithelium at early stages of development and decreased in levels of expression with gestational age. In hypoplastic lungs ghrelin was overexpressed in both human and rat CDH fetuses when compared with controls. Exogenous administration of ghrelin to nitrofen-treated dams led to an attenuation of pulmonary hypoplasia of CDH pups. Furthermore, the growth hormone, secretagogue receptor (GHSR1a), could not be amplified from human or rat fetal lungs by RT-PCR. In conclusion, of all the lungs studied so far, the fetal lung is one of the first to express ghrelin during development and might be considered a new source of circulating fetal ghrelin. Overexpression of ghrelin in hypoplastic lungs and the effect of exogenous administration of ghrelin to nitrofen-treated dams strongly suggest a role for ghrelin in mechanisms involved in attenuation of fetal lung hypoplasia, most likely through a GHSR1a-independent pathway.

Lung function and pulmonary artery blood flow following prenatal maternal retinoic acid and imatinib in the nitrofen model of congenital diaphragmatic hernia.

PubMed

Burgos, Carmen Mesas; Davey, Marcus G; Riley, John S; Jia, Huimin; Flake, Alan W; Peranteau, William H

2017-12-19

Lung and pulmonary vascular maldevelopment in congenital diaphragmatic hernia (CDH) results in significant morbidity and mortality. Retinoic acid (RA) and imatinib have been shown to improve pulmonary morphology following prenatal administration in the rat nitrofen-induced CDH model. It remains unclear if these changes translate into improved function. We evaluated the effect of prenatal RA and imatinib on postnatal lung function, structure, and pulmonary artery (PA) blood flow in the rat CDH model. Olive oil or nitrofen was administered alone or in combination with RA or imatinib to pregnant rats. Pups were assessed for PA blood flow by ultrasound and pulmonary function/morphology following delivery, intubation, and short-term ventilation. Neither RA nor imatinib had a negative effect on lung and body growth. RA accelerated lung maturation indicated by increased alveoli number and thinner interalveolar septa and was associated with decreased PA resistance and improved oxygenation. With the exception of a decreased PA pulsatility index, no significant changes in morphology and pulmonary function were noted following imatinib. Prenatal treatment with RA but not imatinib was associated with improved pulmonary morphology and function, and decreased pulmonary vascular resistance. This study highlights the potential of prenatal pharmacologic therapies, such as RA, for management of CDH. Copyright © 2017 Elsevier Inc. All rights reserved.

Prenatal administration of neuropeptide bombesin promotes lung development in a rat model of nitrofen-induced congenital diaphragmatic hernia.

PubMed

Sakai, Kohei; Kimura, Osamu; Furukawa, Taizo; Fumino, Shigehisa; Higuchi, Koji; Wakao, Junko; Kimura, Koseki; Aoi, Shigeyoshi; Masumoto, Kouji; Tajiri, Tatsuro

2014-12-01

Fetal medical treatment to improve lung hypoplasia in congenital diaphragmatic hernia (CDH) has yet to be established. The neuropeptide bombesin (BBS) might play an important role in lung development. The present study aims to determine whether prenatally administered BBS could be useful to promote fetal lung development in a rat model of nitrofen-induced CDH. Pregnant rats were administered with nitrofen (100mg) on gestation day 9.5 (E9.5). BBS (50mg/kg/day) was then daily infused intraperitoneally from E14, and fetal lungs were harvested on E21. The expression of PCNA was assessed by both immunohistochemical staining and RT-PCR to determine the amount of cell proliferation. Lung maturity was assessed as the expression of TTF-1, a marker of alveolar epithelial cell type II. The lung-body-weight ratio was significantly increased in CDH/BBS(+) compared with CDH/BBS(-) (p<0.05). The number of cells stained positive for PCNA and TTF-1 was significantly decreased in CDH/BBS(+) compared with CDH/BBS(-) (p<0.01). The TTF-1 mRNA expression levels were significantly decreased in CDH/BBS(+) compared with CDH/BBS(-) (p<0.05). Prenatally administered BBS promotes lung development in a rat model of nitrofen-induced CDH. Neuropeptide BBS could help to rescue lung hypoplasia in fetal CDH. Copyright © 2014 Elsevier Inc. All rights reserved.

Therapeutic potential of mesenchymal stem cell transplantation in a nitrofen-induced congenital diaphragmatic hernia rat model.

PubMed

Yuniartha, Ratih; Alatas, Fatima Safira; Nagata, Kouji; Kuda, Masaaki; Yanagi, Yusuke; Esumi, Genshiro; Yamaza, Takayoshi; Kinoshita, Yoshiaki; Taguchi, Tomoaki

2014-09-01

The aim of this study was to evaluate the efficacy of mesenchymal stem cells (MSCs) in a nitrofen-induced congenital diaphragmatic hernia (CDH) rat model. Pregnant rats were exposed to nitrofen on embryonic day 9.5 (E9.5). MSCs were isolated from the enhanced green fluorescent protein (eGFP) transgenic rat lungs. The MSCs were transplanted into the nitrofen-induced E12.5 rats via the uterine vein, and the E21 lung explants were harvested. The study animals were divided into three: the control group, the nitrofen-induced left CDH (CDH group), and the MSC-treated nitrofen-induced left CDH (MSC-treated CDH group). The specimens were morphologically analyzed using HE and immunohistochemical staining with proliferating cell nuclear antigen (PCNA), surfactant protein-C (SP-C), and α-smooth muscle actin. The alveolar and medial walls of the pulmonary arteries were significantly thinner in the MSC-treated CDH group than in the CDH group. The alveolar air space areas were larger, while PCNA and the SP-C positive cells were significantly higher in the MSC-treated CDH group, than in the CDH group. MSC engraftment was identified on immunohistochemical staining of the GFP in the MSC-treated CDH group. MSC transplantation potentially promotes alveolar and pulmonary artery development, thereby reducing the severity of pulmonary hypoplasia.

Perturbations in Endothelial Dysfunction-Associated Pathways in the Nitrofen-Induced Congenital Diaphragmatic Hernia Model.

PubMed

Zhaorigetu, Siqin; Bair, Henry; Lu, Jonathan; Jin, Di; Olson, Scott D; Harting, Matthew T

2018-01-01

Although it is well known that nitrofen induces congenital diaphragmatic hernia (CDH), including CDH-associated lung hypoplasia and pulmonary hypertension (PH) in rodents, the mechanism of pathogenesis remains largely unclear. It has been reported that pulmonary artery (PA) endothelial cell (EC) dysfunction contributes to the development of PH in CDH. Thus, we hypothesized that there is significant alteration of endothelial dysfunction-associated proteins in nitrofen-induced CDH PAs. Pregnant SD rats received either nitrofen or olive oil on gestational day 9.5. The newborn rats were sacrificed and divided into a CDH (n = 81) and a control (n = 23) group. After PA isolation, the expression of PA endothelial dysfunction-associated proteins was assessed on Western blot and immunostaining. We demonstrate that the expression of C-reactive protein and endothelin-1 and its receptors, ETA and ETB, were significantly increased in the CDH PAs. Levels of phosphorylated myosin light chain were significantly elevated, but those of phosphorylated endothelial nitric oxide synthase, caveolin-1, and mechanistic target of rapamycin were significantly decreased in the CDH PAs. In this work, we elucidate alterations in the expression of endothelial dysfunction-associated proteins specific to nitrofen-induced CDH rodent PAs, thereby advancing our understanding of the critical role of endothelial dysfunction-associated pathways in the pathogenesis of nitrofen-induced CDH. © 2017 S. Karger AG, Basel.

Role of catalytic iron and oxidative stress in nitrofen-induced congenital diaphragmatic hernia and its amelioration by Saireito (TJ-114).

PubMed

Hirako, Shima; Tsuda, Hiroyuki; Ito, Fumiya; Okazaki, Yasumasa; Hirayama, Tasuku; Nagasawa, Hideko; Nakano, Tomoko; Imai, Kenji; Kotani, Tomomi; Kikkawa, Fumitaka; Toyokuni, Shinya

2017-11-01

Congenital diaphragmatic hernia (CDH) is a life-threatening neonatal disease that leads to lung hypoplasia and pulmonary hypertension. We recently found that maternal prenatal administration of Saireito (TJ-114) ameliorates fetal CDH in a nitrofen-induced rat model. Here, we studied the role of iron and oxidative stress in neonates of this model and in lung fibroblasts IMR90-SV in association with nitrofen and Saireito. We observed increased immunostaining of 8-hydroxy-2'-deoxyguanosine in the lungs of neonates with CDH, which was ameliorated by maternal Saireito intake. Pulmonary transferrin receptor expression was significantly decreased in both CDH and CDH after Saireito in comparison to normal controls, indicating functional lung immaturity, whereas catalytic Fe(II) and pulmonary DMT1/ferroportin expression remained constant among the three groups. Saireito revealed a dose-dependent scavenging capacity with electron spin resonance spin trapping in vitro against hydroxyl radicals but not against superoxide. Finally, nitrofen revealed dose-dependent cytotoxicity to IMR90-SV cells, accompanied by an increase in oxidative stress, as seen by 5(6)-chloromethyl-2',7'-dichlorodihydrofluorescein diacetate and catalytic Fe(II). Saireito ameliorated all of these in IMR90-SV cells. In conclusion, catalytic Fe(II)-dependent oxidative stress by nitrofen may be the pathogenic cause of CDH, and the antioxidative activity of Saireito is at least partially responsible for improving nitrofen-induced CDH.

ANG-1 TIE-2 and BMPR Signalling Defects Are Not Seen in the Nitrofen Model of Pulmonary Hypertension and Congenital Diaphragmatic Hernia

PubMed Central

Corbett, Harriet Jane; Connell, Marilyn Gwen; Fernig, David Garth

2012-01-01

Background Pulmonary hypertension (PH) is a lethal disease that is associated with characteristic histological abnormalities of the lung vasculature and defects of angiopoetin-1 (ANG-1), TIE-2 and bone morphogenetic protein receptor (BMPR)-related signalling. We hypothesized that if these signalling defects cause PH generically, they will be readily identifiable perinatally in congenital diaphragmatic hernia (CDH), where the typical pulmonary vascular changes are present before birth and are accompanied by PH after birth. Methods CDH (predominantly left-sided, LCDH) was created in Sprague-Dawley rat pups by e9.5 maternal nitrofen administration. Left lungs from normal and LCDH pups were compared at fetal and postnatal time points for ANG-1, TIE-2, phosphorylated-TIE-2, phosphorylated-SMAD1/5/8 and phosphorylated-ERK1/2 by immunoprecipitation and Western blotting of lung protein extracts and by immunohistochemistry on lung sections. Results In normal lung, pulmonary ANG-1 protein levels fall between fetal and postnatal life, while TIE-2 levels increase. Over the corresponding time period, LCDH lung retained normal expression of ANG-1, TIE-2, phosphorylated-TIE-2 and, downstream of BMPR, phosphorylated-SMAD1/5/8 and phosphorylated-p44/42. Conclusion In PH and CDH defects of ANG-1/TIE-2/BMPR-related signalling are not essential for the lethal vasculopathy. PMID:22539968

Role of catalytic iron and oxidative stress in nitrofen-induced congenital diaphragmatic hernia and its amelioration by Saireito (TJ-114)

PubMed Central

Hirako, Shima; Tsuda, Hiroyuki; Ito, Fumiya; Okazaki, Yasumasa; Hirayama, Tasuku; Nagasawa, Hideko; Nakano, Tomoko; Imai, Kenji; Kotani, Tomomi; Kikkawa, Fumitaka; Toyokuni, Shinya

2017-01-01

Congenital diaphragmatic hernia (CDH) is a life-threatening neonatal disease that leads to lung hypoplasia and pulmonary hypertension. We recently found that maternal prenatal administration of Saireito (TJ-114) ameliorates fetal CDH in a nitrofen-induced rat model. Here, we studied the role of iron and oxidative stress in neonates of this model and in lung fibroblasts IMR90-SV in association with nitrofen and Saireito. We observed increased immunostaining of 8-hydroxy-2'-deoxyguanosine in the lungs of neonates with CDH, which was ameliorated by maternal Saireito intake. Pulmonary transferrin receptor expression was significantly decreased in both CDH and CDH after Saireito in comparison to normal controls, indicating functional lung immaturity, whereas catalytic Fe(II) and pulmonary DMT1/ferroportin expression remained constant among the three groups. Saireito revealed a dose-dependent scavenging capacity with electron spin resonance spin trapping in vitro against hydroxyl radicals but not against superoxide. Finally, nitrofen revealed dose-dependent cytotoxicity to IMR90-SV cells, accompanied by an increase in oxidative stress, as seen by 5(6)-chloromethyl-2',7'-dichlorodihydrofluorescein diacetate and catalytic Fe(II). Saireito ameliorated all of these in IMR90-SV cells. In conclusion, catalytic Fe(II)-dependent oxidative stress by nitrofen may be the pathogenic cause of CDH, and the antioxidative activity of Saireito is at least partially responsible for improving nitrofen-induced CDH. PMID:29203958

Expression of the Wilm's tumor gene WT1 during diaphragmatic development in the nitrofen model for congenital diaphragmatic hernia.

PubMed

Dingemann, Jens; Doi, Takashi; Ruttenstock, Elke; Puri, Prem

2011-02-01

The nitrofen model of congenital diaphragmatic hernia (CDH) reproduces a typical diaphragmatic defect. However, the exact pathomechanism of CDH is still unknown. The Wilm's tumor 1 gene (WT1) is crucial for diaphragmatic development. Mutations in WT1 associated with CDH have been described in humans. Additionally, WT1(-/-) mice display CDH. Furthermore, WT1 is involved in the retinoid signaling pathway, a candidate pathway for CDH. We hypothesized that diaphragmatic WT1 gene expression is downregulated during diaphragmatic development in the nitrofen CDH model. Pregnant rats received vehicle or nitrofen on gestational day 9 (D9). Embryos were delivered on D13, D18 and D21. The pleuroperitoneal folds (PPFs) were dissected using laser capture microdissection (D13). Diaphragms of D18 and D21 were manually dissected. RNA was extracted and relative mRNA expression of WT1 was determined using real-time PCR. Immunofluorescence was performed to evaluate protein expression of WT1. Statistical significance was considered p < 0.05. Diaphragmatic mRNA expression of WT1 was significantly decreased in the nitrofen group on D13, D18 and D21. Intensity of immunofluorescencence of WT1 was markedly decreased in the CDH diaphragms on D13, D18 and D21. Downregulation of diaphragmatic WT1 gene expression may impair diaphragmatic development in the nitrofen CDH model.

Antenatal retinoic acid administration increases trophoblastic retinol-binding protein dependent retinol transport in the nitrofen model of congenital diaphragmatic hernia.

PubMed

Kutasy, Balazs; Friedmacher, Florian; Pes, Lara; Coyle, David; Doi, Takashi; Paradisi, Francesca; Puri, Prem

2016-04-01

Low pulmonary retinol levels and disrupted retinoid signaling pathway (RSP) have been implicated in the pathogenesis of congenital diaphragmatic hernia (CDH) and associated pulmonary hypoplasia (PH). It has been demonstrated that nitrofen disturbs the main retinol-binding protein (RBP)-dependent trophoblastic retinol transport. Several studies have demonstrated that prenatal treatment with retinoic acid (RA) can reverse PH in the nitrofen-induced CDH model. We hypothesized that maternal administration of RA can increase trophoblastic RBP-dependent retinol transport in a nitrofen model of CDH. Pregnant rats were treated with nitrofen or vehicle on gestational day 9 (D9) and sacrificed on D21. RA was given i.p. on D18, D19, and D20. Retinol and RA levels were measured using high-performance liquid chromatography. Immunohistochemistry was performed to evaluate trophoblastic expression of RBP. Expression levels of the primary RSP genes were determined using quantitative real-time PCR and immunohistochemistry. Markedly increased trophoblastic RBP immunoreactivity was observed in CDH+RA compared to CDH. Significantly increased serum and pulmonary retinol and RA levels were detected in CDH+RA compared to CDH. Pulmonary expression of RSP genes and proteins were increased in CDH+RA compared to CDH. Increased trophoblastic RBP expression and retinol transport after antenatal administration of RA suggest that retinol-triggered RSP activation may attenuate CDH-associated PH by elevating serum and pulmonary retinol levels.

Increased uptake of dietary retinoids at the maternal-fetal barrier in the nitrofen model of congenital diaphragmatic hernia.

PubMed

Kutasy, Balazs; Friedmacher, Florian; Pes, Lara; Paradisi, Francesca; Puri, Prem

2014-06-01

The retinol signaling pathway is disrupted in congenital diaphragmatic hernia (CDH). Since there is no fetal retinol synthesis, maternal retinol has to cross the placenta. Nitrofen interferes with the retinol-binding protein (RBP) transfer pathway in CDH. However, in RBP knockout mice, retinol has been shown to be present. In this model, increased uptake of maternal dietary retinyl ester (RE) bounded in low-dense-lipoprotein (LDL) through low-density-lipoprotein-receptor 1 (LRP1) and increased activity of RE hydrolysis by lipoprotein-lipase (LPL) have been found. The aim of this study was to investigate the RE transfer pathway in the nitrofen CDH model. Pregnant rats were treated with nitrofen or vehicle on gestational day (D9) and sacrificed on D21. Immunohistochemistry was performed to evaluate LRP1 and LPL protein expression. Serum LDL levels were measured by ELISA. Pulmonary and serum retinoid levels were measured using HPLC. Markedly increased trophoblastic and pulmonary LRP1 and LPL immunoreactivity were observed in CDH compared to controls. Significantly increased serum LDL and RE levels were observed in CDH compared to controls. The increased uptake of dietary retinoids at the maternal-fetal barrier in the nitrofen CDH model suggests that the RE transfer pathway may be the main source of retinol in this model. Copyright © 2014 Elsevier Inc. All rights reserved.

Neurocognitive outcomes in congenital diaphragmatic hernia survivors: a cross-sectional prospective study.

PubMed

Bojanić, Katarina; Grubić, Marina; Bogdanić, Ana; Vuković, Jurica; Weingarten, Toby N; Huebner, Andrea R; Sprung, Juraj; Schroeder, Darrell R; Grizelj, Ruža

2016-10-01

Congenital diaphragmatic hernia (CDH) survivors may have persistent neurocognitive delays. We assessed neurodevelopmental outcomes in CDH survivors from infancy to late teenage years. A cross-sectional study was conducted on 37 CDH survivors to examine neurocognitive functioning. Overall cognitive score was tested with the early learning composite (ELC) of Mullen Scales of Early Learning (n=19), and Full Scale IQ (FSIQ) of Wechsler Intelligence Scale for Children-Fourth Edition (n=18). ELC was 85.7±16.4, lower than the expected norm of 100, P=0.004, and 6 survivors had moderate, and 3 severe delay, which is not greater than expected in the general population (P=0.148). FSIQ was 99.6±19.1, consistent with the expected norm of 100, P=0.922, and 3 survivors had moderate and 2 severe delay, which is greater than expected (P=0.048). Although ELC was lower than FSIQ (P=0.024), within each testing group overall cognitive ability was not associated with participant age (ELC, P=0.732; FSIQ, P=0.909). Longer hospital stay was the only factor found to be consistently associated with a worse cognitive score across all participants in our cohort. A high percentage of survivors with CDH have moderate to severe cognitive impairment suggesting that these subjects warrant early testing with implementation of therapeutic and educational interventions. Published by Elsevier Inc.

Impact of prenatal evaluation and protocol-based perinatal management on congenital diaphragmatic hernia outcomes.

PubMed

Lazar, David A; Cass, Darrell L; Rodriguez, Manuel A; Hassan, Saif F; Cassady, Christopher I; Johnson, Yvette R; Johnson, Karen E; Johnson, Anthony; Moise, Kenneth J; Belleza-Bascon, Bella; Olutoye, Oluyinka O

2011-05-01

Although intuitive, the benefit of prenatal evaluation and multidisciplinary perinatal management for fetuses with congenital diaphragmatic hernia (CDH) is unproven. We compared the outcome of prenatally diagnosed patients with CDH whose perinatal management was by a predefined protocol with those who were diagnosed postnatally and managed by the same team. We hypothesized that patients with CDH undergoing prenatal evaluation with perinatal planning would demonstrate improved outcome. Retrospective chart review of all patients with Bochdalek-type CDH at a single institution between 2004 and 2009 was performed. Patients were stratified by history of perinatal management, and data were analyzed by Fisher's Exact test and Student's t test. Of 116 patients, 71 fetuses presented in the prenatal period and delivered at our facility (PRE), whereas 45 infants were either outborn or postnatally diagnosed (POST). There were more high-risk patients in the PRE group compared with the POST group as indicated by higher rates of liver herniation (63% vs 36%, P = .03), need for patch repair (57% vs 27%, P = .004), and extracorporeal membrane oxygenation use (35% vs 18%, P = .05). Despite differences in risk, there was no difference in 6-month survival between groups (73% vs 73%). Patients with CDH diagnosed prenatally are a higher risk group. Prenatal evaluation and multidisciplinary perinatal management allows for improved outcome in these patients. Copyright © 2011 Elsevier Inc. All rights reserved.

Use of milrinone to treat cardiac dysfunction in infants with pulmonary hypertension secondary to congenital diaphragmatic hernia: a review of six patients.

PubMed

Patel, Neil

2012-01-01

Pulmonary hypertension and secondary cardiac dysfunction are important contributors of morbidity and mortality in infants with congenital diaphragmatic hernia (CDH). Milrinone, a phosphodiesterase-3 inhibitor, may be useful in this setting for its combined actions as a pulmonary vasodilator and to improve systolic and diastolic function. This study aimed to assess the effects of milrinone on cardiac function and pulmonary artery pressure in infants with CDH. A retrospective review of echocardiograms performed on infants with CDH who received milrinone was performed. Tissue Doppler imaging velocities were used to assess systolic and diastolic function. Pulmonary artery pressure was assessed from the pattern and velocity of ductal shunting. Six infants with CDH and severe pulmonary hypertension were identified. Systolic and diastolic myocardial velocities were reduced in the right ventricle (RV) and interventricular septum (IVS) at baseline. In the 72 h after commencement of milrinone, there was a significant increase in early diastolic myocardial velocities in the RV, accompanied by increasing systolic velocities in the RV and IVS. Oxygenation index was significantly reduced, blood pressure unchanged, and ductal shunt velocity minimally altered over the same time period. Milrinone use was associated with an improvement in systolic and diastolic function in the RV, corresponding to an improvement in clinical status. Copyright © 2012 S. Karger AG, Basel.

Congenital Lung Agenesis: Incidence and Outcome in the North of England.

PubMed

Thomas, Matthew; Robertson, Nic; Miller, Nicola; Rankin, Judith; McKean, Michael; Brodlie, Malcom

2017-07-03

Unilateral lung agenesis is an uncommon congenital abnormality, with a lack of reported accurate incidence estimates. Prognosis is also uncertain, with older literature reporting poor outcomes. The North of England register of congenital anomalies (Northern Congenital Abnormality Survey) records cases of congenital anomalies to mothers' resident in the region. We used the register to identify all patients with congenital lung agenesis born between 2004 and 2013 to calculate an accurate incidence estimate and report clinical outcomes with contemporary management. Four patients with congenital lung agenesis were born during the study period, giving an estimated incidence in the North of England of 1.22 per 100,000 live births (95% confidence interval, 0.33-3.11). Two patients had associated congenital heart disease requiring corrective surgery, and one had musculoskeletal anomalies. All four patients are alive and well without a regular oxygen requirement. Contrary to previous reports, the medium term outcomes in our patients have been good, even when lung agenesis is associated with other congenital anomalies. Long-term prognosis with modern management remains unknown, and the potential for the development of pulmonary hypertension remains a concern. Birth Defects Research 109:857-859, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Congenital anomalies in infants conceived by assisted reproductive techniques.

PubMed

Mozafari Kermani, Ramin; Nedaeifard, Leila; Nateghi, Mohammad Reza; Shahzadeh Fazeli, Abolhassan; Ahmadi, Ebrahim; Osia, Mohammad Ali; Jafarzadehpour, Ebrahim; Nouri, Soudabeh

2012-04-01

Many studies show that congenital defects in infants conceived by assisted reproductive techniques (ART) are more than infants of normal conception (NC). The aim of this study is to determine the frequency of congenital anomalies in ART infants from Royan Institute and to compare congenital anomalies between two ART techniques.  In a cross-sectional descriptive study, 400 ART infants from Royan Institute who resided in Tehran were selected by non-random, consecutive sampling. Infants were examined twice (until 9 months of age) by a pediatrician. Infants' congenital anomalies were described by each body system or organ and type of ART. Data were analyzed by SPSS version 16 and Fisher's exact test. The frequency of different organ involvement in the two examinations were: 40 (10%) skin, 25 (6.2%) urogenital system, 21 (5.2%) gastrointestinal tract, 13 (3.2%) visual, and 8 (2%) cardiovascular system. Major congenital defects in infants conceived by in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) were hypospadiasis, inguinal hernia, patent ductus arteriosus plus ventricular septal defect (PDA + VSD), developmental dysplasia of the hip, lacrimal duct stenosis during the first year of life, hydronephrosis and urinary reflux over grade III, undescending testis, ureteropelvic junction stenosis, and torticoli. Two-thirds of ART infants had no defects. A total of 7% of IVF and ICSI infants had one of the major abovementioned congenital anomalies. This rate was higher than NC infants (2%-3%). There was no difference between the ICSI and IVF group.

[Research on the incidence and prevalence of congenital abnormalities in Iaşi district and Iaşi city, from 2001 to 2008].

PubMed

Chiosac, Alina Andreea Andreescu; Manole, Alina; Gorduza, E V; Stamatin, Maria; Titianus, Monica; Ivan, A

2010-01-01

Congenital abnormalities (CA) are deviations from the normal embryonic development that appear antenatal and they are characterized by the alteration of the morphology and function of an organ, system of organs or even of the entire body. The study, on a period of eight years, included 1685 children with CA, from which 58% were males and 50% were from the country-side. It has been observed that 36% of the CA cases were premature births and 64% were normal term births. Also, 21% of the children with CA weighed less than 2700 grams at birth and 79% weighed more than 2700 grams at birth. The birth's APGAR score has been less than 7 in 30% of the cases and higher than 7 in 70% of the cases. 72% of the cases were natural births and 28% were caesarian births. 88% of the CA cases were singular congenital abnormalities and 12% were multiple congenital abnormalities. 24% of the CA were cardiac abnormalities and 21% were skeletal abnormalities. 3% of the subjects of the study have died, of which 69% died from cardiac abnormalities, 22% from hydrocephalus abnormalities, 7% from diaphragmatic hernia and 2% from renal congenital abnormalities.

Comparison of outcomes for single-incision laparoscopic inguinal herniorrhaphy and traditional three-port laparoscopic herniorrhaphy at a single institution.

PubMed

Buckley, F Paul; Vassaur, Hannah; Monsivais, Sharon; Sharp, Nicole E; Jupiter, Daniel; Watson, Rob; Eckford, John

2014-01-01

Evidence in the literature regarding the potential of single-incision laparoscopic (SILS) inguinal herniorrhaphy currently is limited. A retrospective comparison of SILS and traditional multiport laparoscopic (MP) inguinal hernia repair was conducted to assess the safety and feasibility of the minimally invasive laparoscopic technique. All laparoscopic inguinal hernia repairs performed by three surgeons at a single institution during 4 years were reviewed. Statistical evaluation included descriptive analysis of demographics including age, gender, body mass index (BMI), and hernia location (uni- or bilateral), in addition to bivariate and multivariate analyses of surgical technique and outcomes including operative times, conversions, and complications. The study compared 129 patients who underwent SILS inguinal hernia repair and 76 patients who underwent MP inguinal hernia repair. The cases included 190 men (92.68 %) with a mean age of 55.36 ± 18.01 years (range, 8-86 years) and a mean BMI of 26.49 ± 4.33 kg/m(2) (range, 17.3-41.7 kg/m(2)). These variables did not differ significantly between the SILS and MP cohorts. The average operative times for the SILS and MP unilateral cases were respectively 57.51 and 66.96 min. For the bilateral cases, the average operative times were 81.07 min for SILS and 81.38 min for MP. A multivariate analysis using surgical approach, BMI, case complexity, and laterality as the covariates demonstrated noninferiority of the SILS technique in terms of operative time (p = 0.031). No conversions from SILS to MP occurred, and the rates of conversion to open procedure did not differ significantly between the cohorts (p = 1.00, Fisher's exact test), nor did the complication rates (p = 0.65, χ (2)). As shown by the findings, SILS inguinal herniorrhaphy is a safe and feasible alternative to traditional MP inguinal hernia repair and can be performed successfully with similar operative times, conversion rates, and complication rates. Prospective trials are essential to confirm equivalence in these areas and to detect differences in patient-centered outcomes.

Total extraperitoneal (TEP) mesh repair of inguinal hernia in the developing world: comparison of low-cost indigenous balloon dissection versus direct telescopic dissection: a prospective randomized controlled study.

PubMed

Misra, Mahesh C; Kumar, Sareesh; Bansal, Virinder K

2008-09-01

Creation of extraperitoneal space during TEP repair requires an expensive commercially available balloon. Fifty-six patients suffering from uncomplicated primary unilateral or bilateral groin hernia were randomized into two groups; group 1--indigenous balloon dissection and group 2--direct telescopic dissection. There were 55 males and 1 female, with an average age of 49 years; 50% of the inguinal hernias were bilateral. Creation of extraperitoneal space was considered as satisfactory in majority of patients (94.6%) with satisfactory anatomical delineation. Peritoneal breach was noticed during dissection in 36 (64.3%) patients. There was one (3.8%) conversion of TEP to TAPP in group 2. Distance between pubic symphysis to umbilicus was an important factor, which affected the easiness of dissection. In patients with this distance

Inguinal hernia repair: is there a benefit to using the robot?

PubMed

Charles, Eric J; Mehaffey, J Hunter; Tache-Leon, Carlos A; Hallowell, Peter T; Sawyer, Robert G; Yang, Zequan

2018-04-01

The number of robotic surgical procedures performed yearly is constantly rising, due to improved dexterity and visualization capabilities compared with conventional methods. We hypothesized that outcomes after robotic-assisted inguinal hernia repair would not be significantly different from outcomes after laparoscopic or open repair. All patients undergoing inguinal hernia repair between 2012 and 2016 were identified using institutional American College of Surgeons National Surgical Quality Improvement Program data. Demographics; preoperative, intraoperative, and postoperative characteristics; and outcomes were evaluated based on method of repair (Robot, Lap, or Open). Categorical variables were analyzed by Chi-square test and continuous variables using Mann-Whitney U. A total of 510 patients were identified who underwent unilateral inguinal hernia repair (Robot: 13.8% [n = 69], Lap: 48.1% [n = 241], Open: 38.1% [n = 191]). There were no demographic differences between groups other than age (Robot: 52 [39-62], Lap: 57 [45-67], and Open: 56 [48-67] years, p = 0.03). Operative duration was also different (Robot: 105 [76-146] vs. Lap: 81 [61-103] vs. Open: 71 [56-88] min, p < 0.001). There were no operative mortalities and all patients except one were discharged home the same day. Postoperative occurrences (adverse events, readmissions, and death) were similar between groups (Robot: 2.9% [2], Lap: 3.3% [8], Open: 5.2% [10], p = 0.53). Although rare, there was a significant difference in rate of postoperative skin and soft tissue infection (Robot: 2.9% [2] vs. Lap: 0% [0] vs. Open: 0.5% [1], p = 0.02). Cost was significantly different between groups (Robot: $7162 [$5942-8375] vs. Lap: $4527 [$2310-6003] vs. Open: $4264 [$3277-5143], p < 0.001). Outcomes after robotic-assisted inguinal hernia repair were similar to outcomes after laparoscopic or open repair. Longer operative duration during robotic repair may contribute to higher rates of skin and soft tissue infection. Higher cost should be considered, along with surgeon comfort level and patient preference when deciding whether inguinal hernia repair is approached robotically.

Expression of hepatic lipid droplets is decreased in the nitrofen model of congenital diaphragmatic hernia.

PubMed

Takahashi, Hiromizu; Kutasy, Balazs; Friedmacher, Florian; Takahashi, Toshiaki; Puri, Prem

2016-02-01

Prenatal mortality in newborn infants with congenital diaphragmatic hernia (CDH) has been attributed to increased amounts of liver hernia ion through the diaphragmatic defect. Antenatal studies in human and rodent fetus with CDH further demonstrated a contribution of the developing liver in the pathogenesis of CDH. The abnormal hepatic growth in experimental animal models, therefore, indicates a disruption of normal liver development in CDH. However, the underlying structural, histological and functional changes in the liver of animals with CDH remain unclear. We design this study to test the hypothesis that the morphological and cellular liver development is altered in the nitrogen-induced CDH model. Pregnant rats were exposed to either olive oil or nitrofen on day 9 of gestation (D9). Livers and chest were harvested on D21 and divided into two groups: control (n = 8), nitrofen with CDH (CDH, n = 8). Haematoxylin-eosin (Straub et al. Histopathology 68:617-631, 2013) staining was performed to evaluate underlying morphological changes. Apoptosis was checked by using TUNEL staining and apoptotic cell number was counted on 16-16 slides in 25 fields by two independent viewers. Hepatic lipid droplet expressions were evaluated by hepatic adipose differentiation-related protein (ARDP) expression. Compared to controls markedly increased hypertrophy was seen in CDH group. Significantly increased apoptotic cell numbers were detected in CDH group compared to controls (5.1 ± 1.5 vs 2.1 ± 0.6) (p < 0.05). The relative mRNA expression levels of ARDP were significantly reduced in CDH group compared to controls. Immunohistochemistry showed markedly decreased hepatic ADRP immunoreactivity in CDH fetuses compared to controls. Our findings provide strong evidence of hepatic hypertrophy and increased cell apoptosis in the liver of nitrofen-induced CDH. These morphological changes may affect liver lipid droplet expression function.

Congenital Becker's nevus with a familial association.

PubMed

Book, S E; Glass, A T; Laude, T A

1997-01-01

Becker's nevus is a unilateral, hyperpigmented cutaneous hamartoma usually with hypertrichosis. It occurs predominantly in boys, becoming apparent during adolescence, although several cases of congenital Becker's nevus have been reported. Rarely it may be familial and as such is transmitted in an autosomal dominant pattern. We report a 16-month-old black boy with a hyperpigmented patch on his right shoulder and upper pectoral area that extended down his arm. The patient's father has a similar lesion with hair on his left shoulder which has been present since childhood. Histology of the child's lesion was consistent with Becker's nevus. We believe this to be the first reported case of a congenital Becker's nevus with a familial association.

Congenital or torsion-induced absence of Fallopian tubes. Two case reports.

PubMed

Paternoster, D M; Costantini, W; Uglietti, A; Vasile, C; Bocconi, L

1998-05-01

Unilateral absence of a uterine tube is an extremely rare finding, for which there are two possible etiopathogenic causes: in some cases it is due to haemorrhage filling of the cavity and its reabsorption as a result of asymptomatic torsion of the uterine tube during adult life, in pediatric age or even during intrauterine life; alternatively, the absence may be congenital, associated with developmental alterations of the mesonephric and paramesonephric ducts. The article presents two cases of fallopian tube absence: a congenital monolateral absence and a tubal torsion during pregnancy. The symptomatology of the torsion of the fallopian tube in pregnancy can be milder than in the classic description with peritoneal reaction and severe clinical alteration. The main risk factors for tubal torsion are: adhesions and inflammatory processes, ovarian cysts, usually of dermoid type, menstrual period, pregnancy, abnormal long mesosalpinx and/or mesovarium, pelvic congestion induced by constipation and disturbed venous blood flow from the adnexa. A congenital defect of the mesonephric duct is followed by a homolateral defect of the paramesonephric duct. The resulting anomaly is characterized by the absence of the uterine tube, uterus-tube angle, kidney and ureter. Partial or total unilateral defects of a paramesonephric duct are more common than aplasia of both ducts. Some authors have suggested that an inadequate blood supply during the descent into the pelvis of the caudal part of the paramesonephric duct might feasibly lead to incomplete tube development.

Unilateral Autosomal Recessive Anophthalmia in a Patient with Cystic Craniopharyngioma

PubMed Central

Kumar, Amandeep; Bansal, Ankit; Garg, Ajay; Sharma, Bhawani S.

2014-01-01

Abstract Anophthalmia is a rare ocular malformation. It is a genetically determined disorder and is typically associated with syndromes. However, sporadic nonsyndromic familial as well as non-familial cases of anophthalmia have also been reported. Non-syndromic familial cases are usually bilateral and have been attributed to autosomal recessive, autosomal dominant, and X-linked inheritance patterns. The authors hereby report a rare case of autosomal recessive unilateral anophthalmia in a patient with no other associated congenital anomaly. Patient was operated for craniopharyngioma. The clinical, radiological and intraoperative findings are discussed. PMID:27928292

Lumbo-costo-vertebral syndrome with congenital lumbar hernia.

PubMed

Gupta, Lucky; Mala, Tariq Ahmed; Gupta, Rahul; Malla, Shahid Amin

2014-01-01

Lumbo-costo-vertebral syndrome (LCVS) is a set of rare abnormalities involving vertebral bodies, ribs, and abdominal wall. We present a case of LCVS in a 2-year-old girl who had a progressive swelling over left lumbar area noted for the last 12 months. Clinical examination revealed a reducible swelling with positive cough impulse. Ultrasonography showed a defect containing bowel loops in the left lumbar region. Chest x-ray showed scoliosis and hemivertebrae with absent lower ribs on left side. Meshplasty was done.

Lumbo-Costo-Vertebral Syndrome with Congenital Lumbar Hernia

PubMed Central

Gupta, Lucky; Gupta, Rahul; Malla, Shahid Amin

2014-01-01

Lumbo-costo-vertebral syndrome (LCVS) is a set of rare abnormalities involving vertebral bodies, ribs, and abdominal wall. We present a case of LCVS in a 2-year-old girl who had a progressive swelling over left lumbar area noted for the last 12 months. Clinical examination revealed a reducible swelling with positive cough impulse. Ultrasonography showed a defect containing bowel loops in the left lumbar region. Chest x-ray showed scoliosis and hemivertebrae with absent lower ribs on left side. Meshplasty was done. PMID:24834386

Implantation of a cone-shaped double-fixed patch increases abdominal space and prevents recurrence of large defects in congenital diaphragmatic hernia.

PubMed

Loff, Steffan; Wirth, Hartmut; Jester, Iwgo; Hosie, Stuart; Wollmann, Carmen; Schaible, Thomas; Ataman, Ozge; Waag, Karl-Ludwig

2005-11-01

Large defects in patients with congenital diaphragmatic hernia (CDH) are frequently closed with a polytetrafluoroethylene patch (PTFE). Intraoperative problems include lack of abdominal domain for the reduction of organs and closure of the abdominal wall. Main surgical postoperative complication is the recurrence of the hernia. We suggest a new and easy method of patch implantation, improving these problems, and report first follow-up results. In our clinic, 103 children with CDH were treated, and 87 children underwent reconstruction of the diaphragm in the 5 years between 1998 and 2002. In 52 patients, a patch implantation had to be performed. We have been optimizing our complete pediatric and surgical procedure and present a new standardized technique of preparation and implantation of a PTFE patch. The flat patch is folded to a 90 degrees cone. The cone is fixed in its form with few single stitches. It is implanted with an overlapping border of 1 cm circumferentially. The border is separately fixed with absorbable single stitches to keep from rolling up. The rough side of the patch points toward the rim of the diaphragm to enable ingrowth of the connective tissue. In a 1-year follow-up study, the recurrences in the 3 following groups of PTFE patches were studied: conventional implantation (simple patch without overlapping border), patch with separately fixed overlapping border, and cone-shaped patch with overlapping separately fixed border. Thirty-three patients were included in the study. After conventional PTFE-patch implantation, 6 (46%) of 13 patients developed reherniation. After PTFE-patch implantation with separately fixed overlapping border, 1 (11%) of 9 patients had a recurrent hernia. In the group with the PTFE-cone implantation, 1 (9%) of 11 patients developed a recurrence. Meanwhile, another 20 CDH patients received implantation of a cone-shaped patch, and no further recurrence occurred up to now. With the additional space (20 mL) provided by the cone-shaped patch, the closure of the abdomen was easier, and the fundus had intraoperatively a physiological position. This optimized patch implantation technique in large diaphragmatic defects offers considerable advantages especially regarding recurrence of the hernia and closure of the abdomen, which are currently the most challenging surgical problems. 1. The cone-shaped 3-dimensional patch increases abdominal capacity. 2. Redundant chest capacity is reduced, and the reconstructed diaphragm shows a physiological shape. 3. The dome of the patch allows a physiological position of the gastric fundus and a normal Hiss angle, thus preventing gastroesophageal reflux. 4. Additional safety of the implantation is achieved by separate fixation of the overlapping border of the cone, preventing recurrence.

Abdominal adiposity is the main determinant of the C-reactive response to injury in subjects undergoing inguinal hernia repair

PubMed Central

2013-01-01

Background Obesity and serum C-reactive protein (CRP) (a sensitive marker of inflammatory activity) are associated with most chronic diseases. Abdominal adiposity along with age is the strongest determinant of baseline CRP levels in healthy subjects. The mechanism of the association of serum CRP with disease is uncertain. We hypothesized that baseline serum CRP is a marker of inflammatory responsiveness to injury and that abdominal adiposity is the main determinant of this responsiveness. We studied the effect of abdominal adiposity, age and other environmental risk factors for chronic disease on the CRP response to a standardised surgical insult, unilateral hernia repair to not only test this hypothesis but to inform the factors which must be taken into account when assessing systemic inflammatory responses to surgery. Methods 102 male subjects aged 24-94 underwent unilateral hernia repair by a single operator. CRP was measured at 0, 6, 24 and 48 hrs. Response was defined as the peak CRP adjusted for baseline CRP. Results Age and waist:hip ratio (WHR) were associated both with basal CRP and CRP response with similar effect sizes after adjustment for a wide-range of covariates. The adjusted proportional difference in CRP response per 10% increase in WHR was 1.50 (1.17-1.91) p = 0.0014 and 1.15(1.00-1.31) p = 0.05 per decade increase in age. There was no evidence of important effects of other environmental cardiovascular risk factors on CRP response. Conclusion Waist:hip ratio and age need to be considered when studying the inflammatory response to surgery. The finding that age and waist:hip ratio influence baseline and post-operative CRP levels to a similar extent suggests that baseline CRP is a measure of inflammatory responsiveness to casual stimuli and that higher age and obesity modulate the generic excitability of the inflammatory system leading to both higher baseline CRP and higher CRP response to surgery. The mechanism for the association of baseline CRP and waist:hip ratio to chronic disease outcomes could be through this increase in inflammatory system excitability. PMID:23391158

The number of spermatogonia in various congenital testicular disorders.

PubMed

Saito, S; Kumamoto, Y

1989-05-01

Various congenital testicular disorders, including monorchism, retractile testis, cryptorchidism and male intersex, were investigated by counting the number of spermatogonia per seminiferous tubule. The results showed that all 7 cases of monorchism had normal numbers of spermatogonia per seminiferous tubule. However, in 29 cases of a retractile testis a normal testis was observed in 13 (44.8 per cent). Therefore testicular dysgenesis is suggested to exist in more than half of cases of the retractile testis. Of 150 cases of cryptorchidism 82 were bilateral and 68 were unilateral. There was no significant difference in the number of spermatogonia per seminiferous tubule between these 2 groups. The higher the testes were located the worse the ratio of spermatogonia per seminiferous tubule. Fewer or absent spermatogonia were observed in 2 patients less than 2 years old. Of 28 contralateral scrotal testes in patients with unilateral cryptorchidism 4 (14.3 per cent) had no spermatogonia per seminiferous tubule and 8 (28.0 per cent) had a decreased number of spermatogonia per seminiferous tubule. The male intersex patients had much damage even in the scrotal testes. From these results it is suggested that these congenital testicular disorders, except monorchism, have similar histological features. Moreover, these conditions are possibly related in etiology to the phenomenon of deficient androgen stimulation.

Experience with peritoneal thermal injury during subcutaneous endoscopically assisted ligation for pediatric inguinal hernia.

PubMed

St-Louis, Etienne; Chabot, Annie; Stagg, Hayden; Baird, Robert

2018-05-01

Subcutaneous endoscopically-assisted ligation (SEAL) for pediatric inguinal hernia repair has gained in popularity although variations in techniques exist. Peritoneal scarring by thermal injury has been described as an adjunct. We explored the hypothesized inverse-correlation between peritoneal scarring and recurrence after SEAL. We conducted a single-center retrospective review of all patients <18years old undergoing SEAL between 2010 and 2016 (REB-20172727). Demographics and outcomes were investigated. Univariate and multivariable logistic regressions were performed to evaluate the association between peritoneal scarring and recurrence. We identified 272 patients. Median age was 3years, 35% were female, and 19% were born premature. Median follow-up was 30months, ≥1 visit/patient. Bilaterality was noted in 35%. There were no reported cases of metachronous hernia, vas injury, testicular atrophy or chronic pain, and recurrence rate was 4.6%. Prematurity, unilateral repair, incarceration, and suture-type (Ti-Cron® vs. Ethibond®) had significant correlation with recurrence on univariate analysis (p<0.25). Surgeon experience did not. Peritoneal scarring, performed in 195 cases (72%), was not predictive of recurrence (adjusted OR=0.87, p=0.830) on multivariable analysis. The rate of complications with SEAL compares favorably to published data. Thermal injury was not associated with improved recurrence rates. The benefits of peritoneal scarring may not outweigh the risks. III - Retrospective Case-Control Study. Copyright © 2018. Published by Elsevier Inc.

A genome-wide association study of copy number variations with umbilical hernia in swine.

PubMed

Long, Yi; Su, Ying; Ai, Huashui; Zhang, Zhiyan; Yang, Bin; Ruan, Guorong; Xiao, Shijun; Liao, Xinjun; Ren, Jun; Huang, Lusheng; Ding, Nengshui

2016-06-01

Umbilical hernia (UH) is one of the most common congenital defects in pigs, leading to considerable economic loss and serious animal welfare problems. To test whether copy number variations (CNVs) contribute to pig UH, we performed a case-control genome-wide CNV association study on 905 pigs from the Duroc, Landrace and Yorkshire breeds using the Porcine SNP60 BeadChip and penncnv algorithm. We first constructed a genomic map comprising 6193 CNVs that pertain to 737 CNV regions. Then, we identified eight CNVs significantly associated with the risk for UH in the three pig breeds. Six of seven significantly associated CNVs were validated using quantitative real-time PCR. Notably, a rare CNV (CNV14:13030843-13059455) encompassing the NUGGC gene was strongly associated with UH (permutation-corrected P = 0.0015) in Duroc pigs. This CNV occurred exclusively in seven Duroc UH-affected individuals. SNPs surrounding the CNV did not show association signals, indicating that rare CNVs may play an important role in complex pig diseases such as UH. The NUGGC gene has been implicated in human omphalocele and inguinal hernia. Our finding supports that CNVs, including the NUGGC CNV, contribute to the pathogenesis of pig UH. © 2016 Stichting International Foundation for Animal Genetics.

The Unilateral Below Elbow Test: a function test for children with unilateral congenital below elbow deficiency.

PubMed

Bagley, Anita M; Molitor, Fred; Wagner, Lisa V; Tomhave, Wendy; James, Michelle A

2006-07-01

The Unilateral Below Elbow Test (UBET) was developed to evaluate function in bimanual activities for both the prosthesis wearer and non-wearer. Nine tasks were chosen for each of four age-specific categories defined by development stages of hand function (2-4y, 5-7y, 8-10y, and 11-21y). Two scales, Completion of Task and Method of Use, were designed to rate performance. To measure reliability, four occupational therapists scored samples of videotaped UBET performances. For Completion of Task, an interval scale, agreement in scoring was measured with interclass correlation coefficients (ICC; n=9; five females, four males). For Method of Use, a nominal scale, chance-adjusted association was calculated with Cohen's kappa coefficients (interobserver n=198; 111 females, 87 males; intraobserver n=93; 56 females, 37 males). For Completion of Task, the average ICC was 0.87 for the prosthesis-on condition, and 0.85 for the prosthesis-off condition. ICCs exceeded 0.80 for eight out of nine tasks for the two older age groups, but for only five out of nine tasks in the younger age groups. Higher inter- and intraobserver kappa coefficients for Method of Use resulted when scoring children with their prostheses on versus off. The oldest age group had lower kappa values than the other three groups. The UBET is recommended for the functional evaluation of Completion of Task in children with unilateral congenital below elbow deficiency with and without their prostheses. Method of Use scoring can evaluate individuals for directed therapy interventions or prosthetic training.

Preemptive Analgesic Effects of Transcutaneous Electrical Nerve Stimulation (TENS) on Postoperative Pain: A Randomized, Double-Blind, Placebo-Controlled Trial.

PubMed

Eidy, Mohammad; Fazel, Mohammad Reza; Janzamini, Monir; Haji Rezaei, Mostafa; Moravveji, Ali Reza

2016-04-01

Transcutaneous electrical nerve stimulation (TENS) is a non-pharmacological analgesic method used to control different types of pain. The aim of this study was to evaluate the effects of preoperative TENS on post inguinal hernia repair pain. This randomized, double-blind, placebo-controlled clinical trial was performed on 66 male patients with unilateral inguinal hernias who were admitted to the Shahid Beheshti hospital in Kashan, Iran, from April to October 2014. Participants were selected using a convenience sampling method and were assigned to intervention (n = 33) and control (n = 33) groups using permuted-block randomization. Patients in the intervention group were treated with TENS 1 hour before surgery, while the placebo was administered to patients in the control group. All of the patients underwent inguinal hernia repair by the Lichtenstein method, and pain intensity was evaluated at 2, 4, 6, and 12 hours after surgery using a visual analogue scale. Additionally, the amounts of analgesic administered by pump were calculated and compared between the two groups. The mean estimated postoperative pain intensity was 6.21 ± 1.63 in the intervention group and 5.45 ± 1.82 in the control group (P = 0.08). In the intervention group pain intensity at 2 and 4 hours after surgery were 3.54 ± 1.48 and 5.12 ± 1.41 (P < 0.001), respectively. In the control group these values were 4.0±1.5 and 4.76 ± 1.39 (P = 0.04), respectively. No significant differences were observed in mean pain intensities at 6 and 12 hours. TENS can reduce postoperative pain in the early hours after inguinal hernia repair surgery.

Bilateral Laparoscopic Totally Extraperitoneal Repair Without Mesh Fixation

PubMed Central

Woodward, Brandon; Johna, Samir; Yamanishi, Frank

2014-01-01

Background and Objectives: Mesh fixation during laparoscopic totally extraperitoneal repair is thought to be necessary to prevent recurrence. However, mesh fixation may increase postoperative chronic pain. This study aimed to describe the experience of a single surgeon at our institution performing this operation. Methods: We performed a retrospective review of the medical records of all patients who underwent bilateral laparoscopic totally extraperitoneal repair without mesh fixation for inguinal hernia from January 2005 to December 2011. Demographic, operative, and postoperative data were obtained for analysis. Results: A total of 343 patients underwent simultaneous bilateral laparoscopic totally extraperitoneal repair of 686 primary and recurrent inguinal hernias from January 2005 to December 2011. The mean operative time was 33 minutes. One patient was converted to an open approach (0.3%), and 1 patient had intraoperative bladder injury. Postoperative hematoma/seroma occurred in 5 patients (1.5%), wound infection in 1 (0.3%), hematuria in 2 (0.6%), and acute myocardial infarction in 1 (0.3%). Chronic pain developed postoperatively in 9 patients (2.6%); 3 of them underwent re-exploration. All patients were discharged home a few hours after surgery except for 3 patients. Among the 686 hernia repairs, there were a total of 20 recurrences (2.9%) in 18 patients (5.2%). Two patients had bilateral recurrences, whereas 16 had unilateral recurrences. Twelve of the recurrences occurred after 1 year (60%). Fourteen recurrences occurred among direct hernias (70%). Conclusion: Compared with the literature, our patients had fewer intraoperative and postoperative complications, less chronic pain, and no increase in operative time or length of hospital stay but had a slight increase in recurrence rate. PMID:25392633

Preemptive Analgesic Effects of Transcutaneous Electrical Nerve Stimulation (TENS) on Postoperative Pain: A Randomized, Double-Blind, Placebo-Controlled Trial

PubMed Central

Eidy, Mohammad; Fazel, Mohammad Reza; Janzamini, Monir; Haji Rezaei, Mostafa; Moravveji, Ali Reza

2016-01-01

Background Transcutaneous electrical nerve stimulation (TENS) is a non-pharmacological analgesic method used to control different types of pain. Objectives The aim of this study was to evaluate the effects of preoperative TENS on post inguinal hernia repair pain. Patients and Methods This randomized, double-blind, placebo-controlled clinical trial was performed on 66 male patients with unilateral inguinal hernias who were admitted to the Shahid Beheshti hospital in Kashan, Iran, from April to October 2014. Participants were selected using a convenience sampling method and were assigned to intervention (n = 33) and control (n = 33) groups using permuted-block randomization. Patients in the intervention group were treated with TENS 1 hour before surgery, while the placebo was administered to patients in the control group. All of the patients underwent inguinal hernia repair by the Lichtenstein method, and pain intensity was evaluated at 2, 4, 6, and 12 hours after surgery using a visual analogue scale. Additionally, the amounts of analgesic administered by pump were calculated and compared between the two groups. Results The mean estimated postoperative pain intensity was 6.21 ± 1.63 in the intervention group and 5.45 ± 1.82 in the control group (P = 0.08). In the intervention group pain intensity at 2 and 4 hours after surgery were 3.54 ± 1.48 and 5.12 ± 1.41 (P < 0.001), respectively. In the control group these values were 4.0±1.5 and 4.76 ± 1.39 (P = 0.04), respectively. No significant differences were observed in mean pain intensities at 6 and 12 hours. Conclusions TENS can reduce postoperative pain in the early hours after inguinal hernia repair surgery. PMID:27275401

Postoperative analgesic efficacy of ultrasound-guided ilioinguinal-iliohypogastric nerve block compared with medial transverse abdominis plane block in inguinal hernia repair: A prospective, randomised trial.

PubMed

Bhatia, Nidhi; Sen, Indu Mohini; Mandal, Banashree; Batra, Ankita

2018-03-29

Analgesic efficacy of ultrasound-guided transverse abdominis plane block, administered a little more medially, just close to the origin of the transverse abdominis muscle has not yet been investigated in patients undergoing unilateral inguinal hernia repair. We hypothesised that medial transverse abdominis plane block would provide comparable postoperative analgesia to ilioinguinal-iliohypogastric nerve block in inguinal hernia repair patients. This prospective, randomised trial was conducted in 50 ASA I and II male patients≥18 years of age. Patients were randomised into two groups to receive either pre-incisional ipsilateral ultrasound-guided ilioinguinal-iliohypogastric nerve block or medial transverse abdominis plane block, with 0.3ml/kg of 0.25% bupivacaine. Our primary objective was postoperative 24-hour analgesic consumption and secondary outcomes included pain scores, time to first request for rescue analgesic and side effects, if any, in the postoperative period. There was no significant difference in the total postoperative analgesic consumption [group I: 66.04mg; group II: 68.33mg (P value 0.908)]. Time to first request for rescue analgesic was delayed, though statistically non-significant (P value 0.326), following medial transverse abdominis plane block, with excellent pain relief seen in 58.3% patients as opposed to 45.8% patients in ilioinguinal-iliohypogastric nerve block group. Medial transverse abdominis plane block being a novel, simple and easily performed procedure can serve as an useful alternative to ilioinguinal-iliohypogastric nerve block for providing postoperative pain relief in inguinal hernia repair patients. Copyright © 2018 Société française d'anesthésie et de réanimation (Sfar). Published by Elsevier Masson SAS. All rights reserved.

Costs and cost-effectiveness of pediatric inguinal hernia repair in Uganda.

PubMed

Eeson, Gareth; Birabwa-Male, Doreen; Pennington, Mark; Blair, Geoffrey K

2015-02-01

Surgically treatable diseases contribute approximately 11% of disability-adjusted life years (DALYs) worldwide yet they remain a neglected public health priority in low- and middle-income countries (LMICs). Pediatric inguinal hernia is the most common congenital abnormality in newborns and a major cause of morbidity and mortality yet elective repair remains largely unavailable in LMICs. This study is aimed to determine the costs and cost-effectiveness of pediatric inguinal hernia repair (PIHR) in a low-resource setting. Medical costs of consecutive elective PIHRs were recorded prospectively at two centers in Uganda. Decision modeling was used to compare two different treatment scenarios (adoption of PIHR and non-adoption) from a provider perspective. A Markov model was constructed to estimate health outcomes under each scenario. The robustness of the cost-effectiveness results in the base case analysis was tested in one-way and probabilistic sensitivity analysis. The primary outcome of interest was cost per DALY averted by the intervention. Sixty-nine PIHRs were performed in 65 children (mean age 3.6 years). Mean cost per procedure was $86.68 US (95% CI 83.1-90.2 USD) and averted an average of 5.7 DALYs each. Incremental cost-effectiveness ratio was $12.41 per DALY averted. The probability of cost-effectiveness was 95% at a cost-effectiveness threshold of $35 per averted DALY. Results were robust to sensitivity analysis under all considered scenarios. Elective PIHR is highly cost-effective for the treatment and prevention of complications of hernia disease even in low-resource settings. PIHR should be prioritized in LMICs alongside other cost-effective interventions.

The importance of social media for patients and families affected by congenital anomalies: A Facebook cross-sectional analysis and user survey.

PubMed

Jacobs, Robyn; Boyd, Leanne; Brennan, Kirsty; Sinha, C K; Giuliani, Stefano

2016-11-01

We aimed to define characteristics and needs of Facebook users in relation to congenital anomalies. Cross-sectional analysis of Facebook related to four congenital anomalies: anorectal malformation (ARM), congenital diaphragmatic hernia (CDH), congenital heart disease (CHD) and hypospadias/epispadias (HS/ES). A keyword search was performed to identify relevant Groups/Pages. An anonymous survey was posted to obtain quantitative/qualitative data on users and their healthcare needs. 54 Groups and 24 Pages were identified (ARM: 10 Groups; CDH: 9 Groups, 7 Pages; CHD: 32 Groups, 17 Pages; HS/ES: 3 Groups), with 16,191 Group members and 48,766 Page likes. 868/1103 (79%) of respondents were parents. Male:female ratio was 1:10.9. 65% of the users were 26-40years old. Common reasons for joining these Groups/Pages included: seeking support, education, making friends, and providing support to others. 932/1103 (84%) would like healthcare professionals (HCPs) to actively participate in their Group. 31% of the respondents felt that they did not receive enough support from their healthcare system. 97% of the respondents would like to join a Group linked to their primary hospital. Facebook Groups/Pages related to congenital anomalies are highly populated and active. There is a need for HCPs and policy makers to better understand and participate in social media to support families and improve patient care. Copyright © 2016 Elsevier Inc. All rights reserved.

Angle closure glaucoma in congenital ectropion uvea.

PubMed

Wang, Grace M; Thuente, Daniel; Bohnsack, Brenda L

2018-06-01

Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months) and required additional surgery (cycloablation or trabeculectomy). Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control.

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

PubMed Central

Pasutto, Francesca; Sticht, Heinrich; Hammersen, Gerhard; Gillessen-Kaesbach, Gabriele; FitzPatrick, David R.; Nürnberg, Gudrun; Brasch, Frank; Schirmer-Zimmermann, Heidemarie; Tolmie, John L.; Chitayat, David; Houge, Gunnar; Fernández-Martínez, Lorena; Keating, Sarah; Mortier, Geert; Hennekam, Raoul C. M.; von der Wense, Axel; Slavotinek, Anne; Meinecke, Peter; Bitoun, Pierre; Becker, Christian; Nürnberg, Peter; Reis, André; Rauch, Anita

2007-01-01

We observed two unrelated consanguineous families with malformation syndromes sharing anophthalmia and distinct eyebrows as common signs, but differing for alveolar capillary dysplasia or complex congenital heart defect in one and diaphragmatic hernia in the other family. Homozygosity mapping revealed linkage to a common locus on chromosome 15, and pathogenic homozygous mutations were identified in STRA6, a member of a large group of “stimulated by retinoic acid” genes encoding novel transmembrane proteins, transcription factors, and secreted signaling molecules or proteins of largely unknown function. Subsequently, homozygous STRA6 mutations were also demonstrated in 3 of 13 patients chosen on the basis of significant phenotypic overlap to the original cases. While a homozygous deletion generating a premature stop codon (p.G50AfsX22) led to absence of the immunoreactive protein in patient’s fibroblast culture, structural analysis of three missense mutations (P90L, P293L, and T321P) suggested significant effects on the geometry of the loops connecting the transmembrane helices of STRA6. Two further variations in the C-terminus (T644M and R655C) alter specific functional sites, an SH2-binding motif and a phosphorylation site, respectively. STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the “STRA” group. PMID:17273977

Fetal stomach position predicts neonatal outcomes in isolated left-sided congenital diaphragmatic hernia

PubMed Central

Basta, Amaya M; Lusk, Leslie A; Keller, Roberta L; Filly, Roy A

2015-01-01

Introduction We sought to determine the relationship between degree of stomach herniation by antenatal sonography and neonatal outcomes in fetuses with isolated left-sided congenital diaphragmatic hernia (CDH). Materials and Methods We retrospectively reviewed neonatal medical records and antenatal sonography of fetuses with isolated left CDH cared for at a single institution (2000–2012). Fetal stomach position was classified on sonography as follows: intra-abdominal, anterior left chest, mid-to-posterior left chest, or retrocardiac (right chest). Results Ninety fetuses were included with 70% surviving to neonatal discharge. Stomach position was intra-abdominal in 14% (n=13), anterior left chest in 19% (n=17), mid-to-posterior left chest in 41% (n=37), and retrocardiac in 26% (n=23). Increasingly abnormal stomach position was linearly associated with an increased odds of death (OR 4.8, 95%CI 2.1–10.9), extracorporeal membrane oxygenation (ECMO) (OR 5.6, 95%CI 1.9–16.7), nonprimary diaphragmatic repair (OR 2.7, 95%CI 1.4–5.5), prolonged mechanical ventilation (OR 5.9, 95%CI 2.3–15.6), and prolonged respiratory support (OR 4.0, 95%CI 1.6–9.9). All fetuses with intra-abdominal stomach position survived without substantial respiratory morbidity or need for ECMO. Discussion Fetal stomach position is strongly associated with neonatal outcomes in isolated left CDH. This objective tool may allow for accurate prognostication in a variety of clinical settings. PMID:26562540

Fetal Stomach Position Predicts Neonatal Outcomes in Isolated Left-Sided Congenital Diaphragmatic Hernia.

PubMed

Basta, Amaya M; Lusk, Leslie A; Keller, Roberta L; Filly, Roy A

2016-01-01

We sought to determine the relationship between the degree of stomach herniation by antenatal sonography and neonatal outcomes in fetuses with isolated left-sided congenital diaphragmatic hernia (CDH). We retrospectively reviewed neonatal medical records and antenatal sonography of fetuses with isolated left CDH cared for at a single institution (2000-2012). Fetal stomach position was classified on sonography as follows: intra-abdominal, anterior left chest, mid-to-posterior left chest, or retrocardiac (right chest). Ninety fetuses were included with 70% surviving to neonatal discharge. Stomach position was intra-abdominal in 14% (n = 13), anterior left chest in 19% (n = 17), mid-to-posterior left chest in 41% (n = 37), and retrocardiac in 26% (n = 23). Increasingly abnormal stomach position was linearly associated with an increased odds of death (OR 4.8, 95% CI 2.1-10.9), extracorporeal membrane oxygenation (ECMO; OR 5.6, 95% CI 1.9-16.7), nonprimary diaphragmatic repair (OR 2.7, 95% CI 1.4-5.5), prolonged mechanical ventilation (OR 5.9, 95% CI 2.3-15.6), and prolonged respiratory support (OR 4.0, 95% CI 1.6-9.9). All fetuses with intra-abdominal stomach position survived without substantial respiratory morbidity or need for ECMO. Fetal stomach position is strongly associated with neonatal outcomes in isolated left CDH. This objective tool may allow for accurate prognostication in a variety of clinical settings. © 2015 S. Karger AG, Basel.

STATs in Lung Development: Distinct Early and Late Expression, Growth Modulation and Signaling Dysregulation in Congenital Diaphragmatic Hernia.

PubMed

Piairo, Paulina; Moura, Rute S; Baptista, Maria João; Correia-Pinto, Jorge; Nogueira-Silva, Cristina

2018-01-01

Congenital diaphragmatic hernia (CDH) is a life-threatening developmental anomaly, intrinsically combining severe pulmonary hypoplasia and hypertension. During development, signal transducers and activators of transcription (STAT) are utilized to elicit cell growth, differentiation, and survival. We used the nitrofen-induced CDH rat model. At selected gestational time points, lungs were divided into two experimental groups, i.e., control or CDH. We performed immunohistochemistry and western blotting analysis to investigate the developmental expression profile of the complete family of STATs (STAT1-6), plus specific STATs activation (p-STAT3, p-STAT6) and regulation by SOCS (SOCS3) in normal lungs against those of diseased lungs. The normal fetal lung explants were treated with piceatannol (STAT3 inhibitor) in vitro followed by morphometrical analysis. Molecular profiling of STATs during the lung development revealed distinct early and late expression signatures. Experimental CDH altered the STATs expression, activation, and regulation in the fetal lungs. In particular, STAT3 and STAT6 were persistently over-expressed and early over-activated. Piceatannol treatment dose-dependently stimulated the fetal lung growth. These findings suggest that STATs play an important role during normal fetal lung development and CDH pathogenesis. Moreover, functionally targeting STAT signaling modulates fetal lung growth, which highlights that STAT3 and STAT6 signaling might be promising therapeutic targets in reducing or preventing pulmonary hypoplasia in CDH. © 2018 The Author(s). Published by S. Karger AG, Basel.

[MRI-Based Ratio of Fetal Lung to Body Volume as New Prognostic Marker for Chronic Lung Disease in Patients with Congenital Diaphragmatic Hernia].

PubMed

Winkler, Melissa M; Weis, Meike; Henzler, Claudia; Weiß, Christel; Kehl, Sven; Schoenberg, Stefan O; Neff, Wolfgang; Schaible, Thomas

2017-03-01

Background Our aim was to evaluate the prognostic value of magnetic resonance imaging (MRI)-based ratio of fetal lung volume (FLV) to fetal body volume (FBV) as a marker for development of chronic lung disease (CLD) in fetuses with congenital diaphragmatic hernia (CDH). Patients and Methods FLV and FBV were measured and the individual FLV/FBV ratio was calculated in 132 fetuses. Diagnosis of CLD was established following prespecified criteria and graded into mild/moderate/severe if present. Logistic regression analysis was used to calculate the probability of postnatal development of CLD in dependence of the FLV/FBV ratio. Receiver operating characteristic curves were analysed by calculating the area under the curve to evaluate the prognostic accuracy of this marker. Results 61 of 132 fetuses developed CLD (46.21%). The FLV/FBV ratio was significantly lower in fetuses with CLD (p=0.0008; AUC 0.743). Development of CLD was significantly associated with thoracic herniation of liver parenchyma (p<0.0001), requirement of extracorporal membrane oxygenation (ECMO) (p<0.0001) and gestational age at delivery (p=0.0052). Conclusion The MRI-based ratio of FLV to FBV is a highly valuable prenatal parameter for development of CLD. The ratio is helpful for early therapeutic decisions by estimating the probability to develop CLD. Perinatally, gestational age at delivery and ECMO requirement are useful additional parameters to further improve prediction of CLD. © Georg Thieme Verlag KG Stuttgart · New York.

Downregulated bone morphogenetic protein signaling in nitrofen-induced congenital diaphragmatic hernia.

PubMed

Makanga, Martine; Dewachter, Céline; Maruyama, Hidekazu; Vuckovic, Aline; Rondelet, Benoit; Naeije, Robert; Dewachter, Laurence

2013-08-01

Bone morphogenetic proteins (BMP) have been shown to play crucial roles in not only lung and heart development, but also in the pathogenesis of pulmonary vascular remodeling in pulmonary hypertension (PH). We therefore hypothesized that BMP signaling could be altered in nitrofen-induced congenital diaphragmatic hernia (CDH) and associated PH. Pregnant rats were exposed to either 100 mg nitrofen or vehicle on embryonic day (E) 9.5. On E17 and E21, fetuses were delivered by cesarean section, killed and checked for left-sided CDH. The tissue was then harvested for pathobiological evaluation. In nitrofen-induced CDH, pulmonary expressions of BMP4, BMP receptor (BMPR) type 2 and Id1 decreased on E17 and E21. On E17, pulmonary gremlin-1 expression increased, while BMP7 decreased. In the lungs, Id1 expression was correlated to BMP4 and BMPR2 and inversely correlated to gremlin-1 expression. Myocardial expressions of BMPR2, BMPR1A, BMP7 and SERCA-2A decreased, while gremlin-1 and noggin expressions increased on E17. On E21, myocardial expressions of Id1 and SERCA-2A decreased, while gremlin-1 expression increased. Moreover, BMPR2 and BMPR1A expressions were correlated to SERCA-2A expression and inversely correlated to pro-apoptotic Bax/Bcl2 ratio within the myocardium. Downregulation of BMP signaling seems to contribute to pulmonary and myocardial anomalies observed in nitrofen-induced CDH.

Downregulation of KCNQ5 expression in the rat pulmonary vasculature of nitrofen-induced congenital diaphragmatic hernia.

PubMed

Zimmer, Julia; Takahashi, Toshiaki; Hofmann, Alejandro D; Puri, Prem

2017-05-01

Pulmonary hypertension (PH) is a common complication of congenital diaphragmatic hernia (CDH). Voltage-gated potassium channels KCNQ1, KCNQ4, and KCNQ5 are expressed by rodent pulmonary artery smooth muscle cells, contributing to their vascular tone. We hypothesized that KCNQ1, KCNQ4, and KCNQ5 expression is altered in the pulmonary vasculature of nitrofen-induced CDH rats. After ethical approval (REC913b), time-pregnant rats received nitrofen or vehicle on gestational day (D)9. D21 fetuses were divided into CDH and control group (n=22). QRT-PCR and western blotting were performed to determine gene and protein expression of KCNQ1, KCNQ4, and KCNQ5. Confocal microscopy was used to detect these proteins in the pulmonary vasculature. Relative mRNA level of KCNQ5 (p=0.025) was significantly downregulated in CDH lungs compared to controls. KCNQ1 (p=0.052) and KCNQ4 (p=0.574) expression was not altered. Western blotting confirmed the decreased pulmonary KCNQ5 protein expression in CDH lungs. Confocal-microscopy detected a markedly diminished KCNQ5 expression in pulmonary vasculature of CDH fetuses. Downregulated pulmonary expression of KCNQ5 in CDH lungs suggests that this potassium channel may play an important role in the development of PH in this model. KCNQ5 channel activator drugs may be a potential therapeutic target for the treatment of PH in CDH. 2b (Centre for Evidence-Based Medicine, Oxford). Copyright © 2017. Published by Elsevier Inc.

Kif7 expression is decreased in the diaphragmatic and pulmonary mesenchyme of nitrofen-induced congenital diaphragmatic hernia.

PubMed

Takahashi, Toshiaki; Friedmacher, Florian; Takahashi, Hiromizu; Hofmann, Alejandro Daniel; Puri, Prem

2015-06-01

Developmental mutations that inhibit diaphragmatic and pulmonary mesenchyme formation have been shown to cause congenital diaphragmatic hernia (CDH) and pulmonary hypoplasia (PH). Kinesin family member 7 (Kif7) plays a crucial role in diaphragmatic and pulmonary morphogenesis by controlling proliferation of mesenchymal cells. Loss of Kif7 has been reported to result in diaphragmatic defects and PH. We hypothesized that diaphragmatic and pulmonary Kif7 expression is decreased in the nitrofen-induced CDH model. Timed-pregnant rats were exposed to either nitrofen or vehicle on gestational day 9 (D9). Fetal diaphragms and lungs were microdissected on D13, D15, and D18, and divided into control and nitrofen-exposed specimens. Gene expression levels of Kif7 were analyzed by qPCR. Immunohistochemical staining was performed to evaluate Kif7 protein expression. Relative mRNA expression of Kif7 was significantly reduced in pleuroperitoneal folds (D13), developing diaphragms and lungs (D15), and fully muscularized diaphragms and differentiated lungs (D18) of nitrofen-exposed fetuses compared to controls. Immunoreactivity/immunofluorescence of Kif7 was markedly decreased in diaphragmatic and pulmonary mesenchyme of nitrofen-exposed fetuses on D13, D15, and D18 compared to controls. Decreased Kif7 expression during diaphragmatic development may interfere with mesenchymal cell proliferation, leading to defective pleuroperitoneal folds, and resulting in diaphragmatic defects and associated PH in the nitrofen-induced CDH model. Copyright © 2015 Elsevier Inc. All rights reserved.

Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects.

PubMed

Keitges, Elisabeth A; Pasion, Romela; Burnside, Rachel D; Mason, Carla; Gonzalez-Ruiz, Antonio; Dunn, Teresa; Masiello, Meredith; Gebbia, Joseph A; Fernandez, Carlos O; Risheg, Hiba

2013-07-01

Microdeletions of 8p23.1 are mediated by low copy repeats and can cause congenital diaphragmatic hernia (CDH) and cardiac defects. Within this region, point mutations of the GATA4 gene have been shown to cause cardiac defects. However, the cause of CDH in these deletions has been difficult to determine due to the paucity of mutations that result in CDH, the lack of smaller deletions to refine the region and the reduced penetrance of CDH in these large deletions. Mice deficient for one copy of the Gata4 gene have been described with CDH and heart defects suggesting mutations in Gata4 can cause the phenotype in mice. We report on the SNP microarray analysis on two fetuses with deletions of 8p23.1. The first had CDH and a ventricular septal defect (VSD) on ultrasonography and a family history of a maternal VSD. Microarray analysis detected a 127-kb deletion which included the GATA4 and NEIL2 genes which was inherited from the mother. The second fetus had an incomplete atrioventricular canal defect on ultrasonography. Microarray analysis showed a 315-kb deletion that included seven genes, GATA4, NEIL2, FDFT1, CTSB, DEFB136, DEFB135, and DEFB134. These results suggest that haploinsufficiency of the two genes in common within 8p23.1; GATA4 and NEIL2 can cause CDH and cardiac defects in humans. Copyright © 2013 Wiley Periodicals, Inc.

Growth Patterns of Fetal Lung Volumes in Healthy Fetuses and Fetuses With Isolated Left-Sided Congenital Diaphragmatic Hernia.

PubMed

Ruano, Rodrigo; Britto, Ingrid Schwach Werneck; Sananes, Nicolas; Lee, Wesley; Sangi-Haghpeykar, Haleh; Deter, Russell L

2016-06-01

To evaluate fetal lung growth using 3-dimensional sonography in healthy fetuses and those with congenital diaphragmatic hernia (CDH). Right and total lung volumes were serially evaluated by 3-dimensional sonography in 66 healthy fetuses and 52 fetuses with left-sided CDH between 20 and 37 weeks' menstrual age. Functions fitted to these parameters were compared for 2 groups: (1) healthy versus those with CDH; and (2) fetuses with CHD who survived versus those who died. Fetal right and total lung volumes as well as fetal observed-to-expected right and total lung volume ratios were significantly lower in fetuses with CDH than healthy fetuses (P< .001) and in those fetuses with CDH who died (P< .001). The observed-to-expected right and total lung volume ratios did not vary with menstrual age in healthy fetuses or in those with CDH (independent of outcome). Lung volume rates were lower in fetuses with left-sided CDH compared to healthy fetuses, as well as in fetuses with CDH who died compared to those who survived. The observed-to-expected right and total lung volume ratios were relatively constant throughout menstrual age in fetuses with left-sided CDH, suggesting that the origin of their lung growth abnormalities occurred before 20 weeks and did not progress. The observed-to-expected ratios may be useful in predicting the outcome in fetuses with CDH independent of menstrual age. © 2016 by the American Institute of Ultrasound in Medicine.

Identifying neonates at a very high risk for mortality among children with congenital diaphragmatic hernia managed with extracorporeal membrane oxygenation.

PubMed

Haricharan, Ramanath N; Barnhart, Douglas C; Cheng, Hong; Delzell, Elizabeth

2009-01-01

The purpose of this study was to identify mortality risk factors in children with congenital diaphragmatic hernia (CDH) treated with extracorporeal membrane oxygenation (ECMO) and generate a prediction score for those at a very high risk for mortality. Data on first ECMO runs of all neonates with CDH, between January 1997 and June 2007, were obtained from the Extracorporeal Life Support Organization registry (N = 2678). The data were split into "training data (TD)" (n = 2006) and "validation data" (n = 672). The primary outcome analyzed was in-hospital mortality. Modified Poisson regression was used for analyses. Overall in-hospital mortality among 2678 neonates (males, 57%; median age at ECMO, 1 day) was 52%. The univariate and multivariable analyses were performed using TD. An empirically weighted mortality prediction score was generated with possible scores ranging from 0 to 35 points. Of 69 who scored 14 or higher in the TD, 62 died (positive predictive value [PPV], 90%), of 37 with 15 or higher, 35 died (PPV, 95%), of 23 with 16 or higher, 22 died (PPV, 96%). A cut-off point of 15 was chosen and was tested using the separate validation dataset. In validation data, the cut-off point 15 had a PPV of 96% (23 died of 24). Scoring 15 or higher on the prediction score identifies neonates with CDH at a very high risk for mortality among those managed with ECMO and could be used in surgical decision making and counseling.

Abnormal platelet-derived growth factor signaling accounting for lung hypoplasia in experimental congenital diaphragmatic hernia.

PubMed

Dingemann, Jens; Doi, Takashi; Ruttenstock, Elke; Puri, Prem

2010-10-01

The pathogenesis of pulmonary hypoplasia in congenital diaphragmatic hernia (CDH) is not fully understood. Platelet-derived growth factor A (PDGFA) and platelet-derived growth factor receptor α (PDGFRα) play a crucial role in lung development. It has been reported that PDGF induces H(2)O(2)-production and that oxidative stress may be an important mechanism for the impaired lung development in the nitrofen rat model. We hypothesized that pulmonary expression of PDGFA and PDGFRα is altered in the nitrofen induced CDH model. Pregnant rats received 100 mg nitrofen or vehicle on gestational day 9 (D9) and were sacrificed on D15, D18 or D21. RNA was extracted from fetal left lungs and mRNA levels of PDGFA and PDGFRα were determined using real-time polymerase chain reaction. Immunohistochemistry for protein expression of PDGFA and PDGFRα was performed. Pulmonary H(2)O(2) was measured colorimetrically. mRNA levels of PDGFRα at D15 (4.50 ± 0.87) and PDGFA at D18 (2.90 ± 1.38) were increased in the nitrofen group (P < .05). Immunohistochemistry revealed increased pulmonary expression of PDGFRα and PDGFA. H(2)O(2) content was significantly higher in the nitrofen group. Increased expression of PDGFA and PDGFRα suggests that pulmonary hypoplasia in the nitrofen CDH model may be owing to PDGF-induced oxidative stress during lung development. Copyright © 2010 Elsevier Inc. All rights reserved.

Congenital Partial Absence of Trapezius with Variant Pattern of Rectus Sheath.

PubMed

Tigga, Sarika Rachel; Goswami, Preeti; Khanna, Jugesh

2016-04-01

Musculocutaneous pedicled/free flaps are an essential prerequisite for reconstructive surgery. Amongst the trunk muscles commonly harvested for flaps, the trapezius and rectus abdominis provide satisfactory coverage for cranial and trunk defects. unilateral/bilateral or partial congenital absence of trapezius muscle is well documented and may result in muscular imbalances compromising posture and limb movements. During routine cadaveric dissection, we encountered a case of bilateral partial absence of occipital part of the trapezius muscle. Concurrently, the ventral abdominal musculature displayed the aponeurosis of transversus abdominis muscle solely forming the posterior wall of the rectus sheath. These conjointly occurring anomalies advocate a compensatory strengthening of the anterior wall of rectus sheath in response to the congenital absence of occipital part of the trapezius, probably to counteract the postural instability. The present study focuses on recognition of compensatory mechanisms resulting from congenital variations as identification of such processes may prevent chronic debilitating conditions.

Staphyloma in a cat.

PubMed

Skorobohach, Brian J; Hendrix, Diane V H

2003-06-01

A unilateral scleral staphyloma in an 18-month-old, female spayed Domestic Short-haired cat was treated with excision, primary closure and fascial graft. Other ocular abnormalities noted on examination included iris coloboma, anterior cortical cataract, focal lens equator flattening and retinal dysplasia. The staphyloma was presumed to be congenital in origin.

Word Finding in Children and Adolescents with a History of Brain Injury.

ERIC Educational Resources Information Center

Dennis, Maureen

1992-01-01

Word finding in relation to brain injury is discussed for children and adolescents with unilateral congenital malformations of the brain, early hydrocephalus, childhood-acquired left hemisphere stroke, and acquired traumatic head injury. Studies examining the recovery of word-finding deficits after brain injury are discussed, along with…

[Rare umbilical anomalies].

PubMed

Kysucan, J; Malý, T; Neoral, C

2010-12-01

Umbilicus is a scar, which is the place of the previous merger of the fetus with the umbilical cord. After birth, it has no known function, however, unless the umbilical annulus is completely closed, umbilical hernia may occur. Umbilical scar is also an area where may occur a number of anomalies that may be present alone or together with umbilical hernia. Failure of involution leads to persistence of omphalomesenteric duct and urachal remnants. These embryonic remnants may cause more or less significant clinical problems, or may be completely asymptomatic and may be diagnosed at random. The authors present their own group of patients who were diagnosed and dealt with the defect omphalomesenteric duct or urachus. In past 7 years we observed 35 children with these abnormalities. A large group of patients represents incidental findings during elective surgery for umbilical hernia. Another large group are patients with symptomatic or asymptomatic Meckel's diverticulum. The anatomical observations, clinical manifestations, complications and treatment of these anomalies are mentioned. A total of 35 children were found with these birth defects. In 23 cases we observed omphalomesenteric duct disorders and 12 urachal remnants were reported. Of these, 12 abnormalities were found incidentally during elative procedure for umbilical hernia. Asymptomatic or symptomatic Meckel's diverticulum appeared in 16 cases. Surgical treatment included resection or exstirpation, if urachal anomaly was accompanied then partial resection of the bladder vertex was added. Postoperative complications emerged in 4 cases, three times it was ileus from adhesions 6 months after surgery, once postoperative cystitis appeared and was treated conservatively. Birth abnormalities of the umbilicus are relatively rare diseases that may occur in the pediatric population. Omfalomesenteric duct and urachal anomalies constitute a major group of these congenital disorders and are often associated with umbilical hernia. They can be diagnosed soon after birth or later in life. Surgical treatment involves excision or radical exstirpation to prevent early or late complications (urachal carcinoma in adulthood).

Minimal access surgery for repair of congenital diaphragmatic hernia: is it advantageous?--An open review.

PubMed

Vijfhuize, S; Deden, A C; Costerus, S A; Sloots, C E J; Wijnen, R M H

2012-10-01

Congenital diaphragmatic hernia (CDH) is a congenital life-threatening condition requiring surgical repair in the neonatal period. Minimal access surgery (MAS) is gaining ground on the classical open approach by laparotomy or thoracotomy as it minimizes damage to the abdominal or thoracic wall. Using an open review of the literature, we aimed to determine whether MAS is safe and effective in treating CDH. Furthermore, we provide selection criteria for the optimal surgical approach, laid down in a decision algorithm. An online search of MEDLINE was performed (May 2012), followed by a citations search. All study types except case reports describing open and/or MAS repair of Bochdalek CDH were eligible. Primary outcome data, for example, surgical complications and mortality, were recorded, as well as secondary outcome measures, for example, operative time, duration of postoperative ventilation, tolerance of enteral nutrition, and total length of stay (LOS) in hospital. Analysis was performed in accordance with the standards of the Cochrane Handbook for Systematic Reviews of Interventions. We identified 15 relevant studies, 5 of them describing MAS only and 10 comparing MAS to open repair of CDH. Numbers of included patients and selection criteria for MAS varied widely. Most studies have methodological limitations, such as the use of retrospective data or historical control groups. ECMO treatment and patch use were more frequent in the open repair group (both p < 0.0001). Recurrence risk seemed to be increased in the MAS group. The need for conversion in MAS series ranged widely, from 3.4 to 75.0%. The risk of general surgical complications did not vary between groups. Mortality seemed to be less in the MAS group. Operative time seemed to be longer in the MAS group. Duration of postoperative ventilation and total LOS appeared to be reduced in this group and patients returned quicker to enteral nutrition. We demonstrate that MAS for diaphragmatic hernia appears to be safe in terms of complications and mortality. Besides, it is associated with faster postoperative recovery. Growing experience with this technique is expected to lower the recurrence risk and to shorten the operative time. These findings should be interpreted cautiously because of methodological limitations of the studies included. Selection criteria used in various studies are associated with an important risk of selection bias. Nonetheless, these criteria can be used to identify patients who will benefit most from MAS. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

[Controversies in the therapeutical management of congenital diaphragmatic hernia: update by means of evidence-based medicine].

PubMed

Salguero, E; González de Dios, J; García del Rio, M; Sánchez Díaz, F

2005-10-01

Congenital diaphragmatic hernia (CDH) is one of the high-risk diseases in neonatal surgery. The aim of this article is to make an update of the controversies about the therapeutic management (time of surgery and modalities of medical stabilization) of CDH, by means of a systematic and critical review of the best scientific evidence in bibliography. Systematic and structured review of the articles about therapeutic management of CDH (surgery, mechanical ventilation, inhaled nitric oxide, extracorporeal membrane oxygenation, surfactant, etc) published in secondary (TRIPdatabase, systematic review in Cochrane Collaboration, clinical practice guidelines, health technology assessment database, etc) and primary (bibliographic databases, biomedical journals, books, etc) publications and critical appraisal by means of methodology of the Evidence-Based Medicine Working Group. We selected the publications with the main scientific evidence in therapeutical articles (clinical trial, systematic review, meta-analysis and clinical practice guideline). The main secondary information is found in The Cochrane Library: 3 systematic review in the Neonatal Group (one specific about the time of surgery, and two related to the use of nitric oxide and extracorporeal membrane oxygenation in neonatal severe respiratory failure). But we found the main relevant articles in Pubmed database, mainly published in Journal Pediatric Surgery and with some clusters of investigation (Congenital Diaphragmatic Hernia Study Group in Texas University and Buffalo Institute of Fetal Therapy in New York University). From the evidence-based analysis, the results of CDH management between immediate versus delayed surgery were unclear, but delayed surgical (with pre-operative stabilization) has become preferred approach in many centers, and foetal surgery is not better than neonatal one. Opinion regarding the time of surgery has gradually shifted from early repair to a policy of stabilization and delayed repair. Because of associated persistent pulmonary hypertension and/or pulmonary hypoplasia in CDH, medical therapy is focused toward optimizing oxygenation while avoiding barotrauma, using gentle ventilation and permissive hypercarbia. High frequency oscillatory ventilation, inhaled nitric oxide and extracorporeal membrane oxygenation are used in severe cases, but these treatments do not clearly improve the outcome in neonates with CDH. The usefulness of surfactant and partial liquid ventilation are based in animal model experimentation, because the clinical trials in newborns are little and non-conclusive. Challenges for the future in this thematic area include the need for bigger and better trials of therapy in this field, with long-term outcomes among surviving children.

Meckel's Diverticulum with Small Bowel Obstruction Presenting as Appendicitis in a Pediatric Patient

PubMed Central

Gonzalez, Adolfo; Corpron, Cynthia

2011-01-01

Background: Meckel's diverticulum is a congenital anomaly resulting from incomplete obliteration of the omphalomesenteric duct. The incidence ranges from 0.3% to 2.5% with most patients being asymptomatic. In some cases, complications involving a Meckel's diverticulum may mimic other disease processes and obscure the clinical picture. Methods: This case presents an 8-year-old male with abdominal pain, nausea, and vomiting and an examination resembling appendicitis. Results: A CT scan revealed findings consistent with appendicitis with dilated loops of small bowel. During laparoscopic appendectomy, the appendix appeared unimpressive, and an inflamed Meckel's diverticulum was found with an adhesive band creating an internal hernia with small bowel obstruction. The diverticulum was resected after the appendix was removed. Conclusion: The incidence of an internal hernia with a Meckel's diverticulum is rare. A diseased Meckel's diverticulum can be overlooked in many cases, especially in those resembling appendicitis. It is recommended that the small bowel be assessed in all appendectomy cases for a pathological Meckel's diverticulum. PMID:22643517

Aggressive Surgical Management of Congenital Diaphragmatic Hernia: Worth the Effort?: A Multicenter, Prospective, Cohort Study.

PubMed

Harting, Matthew T; Hollinger, Laura; Tsao, Kuojen; Putnam, Luke R; Wilson, Jay M; Hirschl, Ronald B; Skarsgard, Erik D; Tibboel, Dick; Brindle, Mary E; Lally, Pamela A; Miller, Charles C; Lally, Kevin P

2018-05-01

The objectives of this study were (i) to evaluate infants with congenital diaphragmatic hernia (CDH) that do not undergo repair, (ii) to identify nonrepair rate by institution, and (iii) to compare institutional outcomes based on nonrepair rate. Approximately 20% of infants with CDH go unrepaired and the threshold to offer surgical repair is variable. Data were abstracted from a multicenter, prospectively collected database. Standard clinical variables, including repair (or nonrepair), and outcome were analyzed. Institutions were grouped based on volume and rate of nonrepair. Preoperative mortality predictors were identified using logistic regression, expected mortality for each center was calculated, and observed /expected (O/E) ratios were computed for center groups and compared by Kruskal-Wallis ANOVA. A total of 3965 infants with CDH were identified and 691 infants (17.5%) were not repaired. Nonrepaired patients had lower Apgar scores (P < 0.05) and increased incidence of anomalies (P < 0.0001). Low-volume centers ("Lo", n=44 total, < 10 CDH pts/yr) and high-volume centers ("Hi", n = 21) had median nonrepair rates of 19.8% (range 0%-66.7%) and 16.7% (5.1%-38.5%), respectively. High-volume centers were further dichotomized by rate of nonrepair (HiLo = 5.1-16.7% and HiHi = 17.6-38.5%), leaving 3 groups: HiLo, HiHi, and Lo. Predictors of mortality were lower birth weight, lower Apgar scores, prenatal diagnosis, and presence of congenital anomalies. O/E ratios for mortality in the HiLo, HiHi, and Lo groups were 0.81, 0.94, and 1.21, respectively (P < 0.0001). For every 100 CDH patients, HiLo centers have 2.73 (2.4-3.1, 95% confidence interval) survivors beyond expectation. There are significant differences between repaired and nonrepaired CDH infants and significant center variation in rate of nonrepair exists. Aggressive surgical management, leading to a low rate of nonrepair, is associated with improved risk-adjusted mortality.

Compensatory Growth of Congenital Solitary Kidneys in Pigs Reflects Increased Nephron Numbers Rather Than Hypertrophy

PubMed Central

van Vuuren, Stefan H.; Sol, Chalana M.; Broekhuizen, Roel; Lilien, Marc R.; Oosterveld, Michiel J. S.; Nguyen, Tri Q.

2012-01-01

Background Patients with unilateral MultiCystic Kidney Dysplasia (MCKD) or unilateral renal agenesis (URA) have a congenital solitary functioning kidney (CSFK) that is compensatory enlarged. The question whether this enlargement is due to increased nephron numbers and/or to nephron hypertrophy is unresolved. This question is of utmost clinical importance, since hypertrophy is associated with a risk of developing hypertension and proteinuria later in life with consequent development of CKD and cardiovascular disease. Methodology/Principal Findings In a cohort of 32,000 slaughter pigs, 7 congenital solitary functioning kidneys and 7 control kidneys were identified and harvested. Cortex volume was measured and with a 3-dimensional stereologic technique the number and volume of glomeruli was determined and compared. The mean total cortex volume was increased by more than 80% and the mean number of glomeruli per kidney was 50% higher in CSFKs than in a single control kidney, equaling 75% of the total nephron number in both kidneys of control subjects. The mean total glomerular volume in the CSFKs was not increased relative to the controls. Conclusions/Significance Thus, in pigs, compensatory enlargement of a CSFK is based on increased nephron numbers. Extrapolation of these findings to the human situation suggests that patients with a CSFK might not be at increased risk for developing hyperfiltration-associated renal and cardiovascular disease in later life due to a lower nephron number. PMID:23185419

Uterus bicornis bicollis, imperforate hemivagina and ipsilateral renal agenesis: case report and literature review.

PubMed

DaCosta, V; Christie, L; Wynter, S; Harriott, J; Frederick, J

2009-09-01

We present a case of a patient with Uterus bicornis bicollis, imperforate hemivagina and ipsilateral renal agenesis. This group of congenital malformations is often asymptomatic until puberty, when it presents as cyclic dysmenorrhoea, leucorrhoea or a pelvic mass. Magnetic resonance imaging is becoming the preferred modality for delineation of uterine malformations. When congenital abnormalities of the reproductive tract are encountered, a search should also be made for renal anomalies. Patients with Uterus bicornis bicollis and unilateral imperforate vagina are often seen with pain severe enough to mimic an acute abdomen. It is important to keep this unusual congenital malformation in mind in the differential diagnosis of vaginal discharge, pelvic mass and/or abdominopelvic pain in young women so as to avoid inappropriate surgical procedures.

Splenogonadal fusion with limb deficiency and micrognathia.

PubMed

Moore, P J; Hawkins, E P; Galliani, C A; Guerry-Force, M L

1997-11-01

Splenogonadal fusion (SGF) is a rare abnormality with two known types. In the continuous type, the spleen is connected to the gonad, and there are often limb defects, micrognathia, or other congenital malformations such as ventricular septal defect, anal atresia, microgastria, spina bifida, craniosynostosis, thoracopagus, diaphragmatic hernia, hypoplastic lung and abnormal lung fissures, polymicrogyria, deficient coccyx, and bifid spine C6-T3. The discontinuous type is usually not associated with congenital defects, and the gonad that fused with an accessory spleen has no connection with the native spleen. The etiology of SGF is not known. Conceivably, a teratogenic insult occurring between 5 weeks' and 8 weeks' gestation could interfere with the normal development of the spleen, gonads, and limb buds. We describe a case of splenogonadal fusion in a stillborn black boy with associated micrognathia and limb deformities. Also, we review the possible teratogenic etiologies and embryonic basis of SGF.

A case of right-sided Bochdalek hernia incidentally diagnosed in a gastric cancer patient.

PubMed

Kikuchi, Satoru; Nishizaki, Masahiko; Kuroda, Shinji; Kagawa, Shunsuke; Fujiwara, Toshiyoshi

2016-06-01

Bochdalek hernia (BH) is generally congenital, presenting with respiratory distress. However, this pathology is rarely detected in adults. Some adult cases of BH present with symptoms attributed to the hernia, but incidental detection of BH is increasing among asymptomatic adults due to advances in imaging modalities. This report presents the management of incidental BH patients detected in the preoperative period of gastric cancer. An asymptomatic 76-year-old woman was diagnosed with advanced gastric cancer during follow-up after radiotherapy for uterine cervical cancer. Computed tomography (CT) was performed to exclude metastatic gastric cancer, incidentally detecting right-sided BH. We planned distal gastrectomy with lymph node dissection for gastric cancer and simultaneous repair of BH using a laparoscopic approach. We performed laparoscopic gastrectomy for gastric cancer and investigated the right-sided BH to assess whether repair during surgery was warranted. Herniation of the liver into the right hemithorax was observed, but was followed-up without surgical repair because the right hepatic lobe was adherent to the remnant right anterior hemidiaphragm and covered the huge defect in the right hemidiaphragm. No intra- or postoperative pneumothorax was observed during pneumoperitoneum. Regardless of symptoms, repair of adult BH is generally recommended to prevent visceral incarceration. However, BH in asymptomatic adults appears to be more common than previously reported in the literature. Surgeons need to consider the management of incidental BH encountered during thoracic or abdominal surgery.

Prevalence, heritability and genetic correlations of congenital sensorineural deafness and pigmentation phenotypes in the Border Collie.

PubMed

De Risio, Luisa; Lewis, Tom; Freeman, Julia; de Stefani, Alberta; Matiasek, Lara; Blott, Sarah

2011-06-01

The objectives of this study were to estimate prevalence, heritability and genetic correlations of congenital sensorineural deafness (CSD) and pigmentation phenotypes in the Border Collie. Entire litters of Border Collies that presented to the Animal Health Trust (1994-2008) for assessment of hearing status by brain stem auditory evoked response (BAER) at 4-10 weeks of age were included. Heritability and genetic correlations were estimated using residual maximum likelihood (REML). Of 4143 puppies that met the inclusion criteria, 97.6% had normal hearing status, 2.0% were unilaterally deaf and 0.4% were bilaterally deaf. Heritability of deafness as a trichotomous trait (normal/unilaterally deaf/bilaterally deaf) was estimated at 0.42 using multivariate analysis. Genetic correlations of deafness with iris colour and merle coat colour were 0.58 and 0.26, respectively. These results indicate that there is a significant genetic effect on CSD in Border Collies and that some of the genes determining deafness also influence pigmentation phenotypes. Copyright © 2010 Elsevier Ltd. All rights reserved.

Residual symptoms after surgery for unilateral congenital superior oblique palsy.

PubMed

Caca, Ihsan; Sahin, Alparslan; Cingu, Abdullah; Ari, Seyhmus; Akbas, Umut

2012-01-01

To establish the surgical results and residual symptoms in 48 cases with unilateral congenital superior oblique muscle palsy that had surgical intervention to the vertical muscles alone. Myectomy and concomitant disinsertion of the inferior oblique (IO) muscle was performed in 38 cases and myectomy and concomitant IO disinsertion and recession of the superior rectus muscle in the ipsilateral eye was performed in 10 cases. The preoperative and postoperative vertical deviation values and surgical results were compared. Of the patients who had myectomy and concomitant IO disinsertion, 74% achieved an "excellent" result, 21% a "good" result, and 5% a "poor" result postoperatively. The difference in deviation between preoperative and postoperative values was statistically significant (P < .001). Of the patients who had myectomy and concomitant inferior oblique disinsertion and ipsilateral superior rectus recession, 50% achieved an "excellent" result, 20% a "good" result, and 30% a "poor" result postoperatively. The difference in deviation between preoperative and postoperative values was statistically significant (P < .001). Both procedures are effective and successful in patients with superior oblique muscle palsy, but a secondary surgery may be required. Copyright 2012, SLACK Incorporated.

Postnatal outcome of congenital anomalies in low resource setting.

PubMed

Kumar, Manisha; Sharma, Sumedha; Bhagat, Manisha; Gupta, Usha; Anand, Rama; Puri, Archana; Singh, Anuradha; Singh, Abha

2013-10-01

This study aimed to determine the postnatal outcome of congenital malformations in a tertiary care hospital of India. This was a prospective study of all women with prenatally detected major congenital malformations. Postnatal follow-up of live born babies was carried out for 1 year. There were 574 cases with major congenital anomalies, 523 of which were fully followed. Only 69 women (13.6%) had the initial scan before 20 weeks of gestation. Craniospinal defects were the most common (42.7%), followed by genitourinary anomalies (28%). There was no live birth in cases such as anencephaly, iniencephaly, bilateral renal agenesis, gastroschisis, and cystic hygroma. Survival at 1 year was less than 25% in spina bifida, bilateral cystic kidneys, complex cardiac disease, and non-immune hydrops fetalis. In cases with mild hydrocephalus or unilateral and mild renal disease, the survival was over 75%. In India, the majority of congenital anomalies present late in gestation. Although fetal outcome is invariably poor for severe defects, existing legislation in the country leaves pregnancy continuation as the only option. © 2013 John Wiley & Sons, Ltd.

Unilateral vocal fold paralysis after congenital cardiothoracic surgery: a meta-analysis.

PubMed

Strychowsky, Julie E; Rukholm, Gavin; Gupta, Michael K; Reid, Diane

2014-06-01

There is variation in the literature in regard to the occurrence of unilateral vocal fold paralysis (UVFP) after congenital cardiothoracic surgery. The objective of this study was to identify and appraise the evidence for the occurrence of UVFP after congenital cardiothoracic surgery in a meta-analysis. A comprehensive search strategy in Medline, Embase, and the Cochrane Library was conducted, limited to English publications. Two independent reviewers screened studies for eligibility criteria. Of the 162 identified studies, 32 (20%) met the inclusion criteria. Using the Oxford Centre for Evidence-Based Medicine guidelines, 2 reviewers appraised the level of evidence, extracted data, and resolved discrepancies by consensus. Weighted pooled proportion and 95% confidence intervals (CIs) are reported. Thirty-two studies (n = 5625 patients) were included. Levels of evidence varied from level 3 to 4. Among all studies, the weighted pooled proportion of UVFP was 9.3% (95% CI, 6.6% to 12.5%), and among 11 studies (n = 584 patients) that postoperatively evaluated patients with flexible nasopharyngolaryngoscopy to document presence of UVFP, the weighted pooled proportion of UVFP was 29.8% (95% CI, 18.5% to 42.5%). Twenty-one studies (n = 2748 patients) evaluated patients undergoing patent ductus arteriosus ligation surgery, and the weighted pooled proportion of UVFP was 8.7% (95% CI, 5.4% to 12.6%). Six of these (n = 274 patients) assessed all patients postoperatively, and the weighted pooled proportion of UVFP was 39% (95% CI, 18% to 63%). Pooled analyses of risk factors and comorbidities are reported. Heterogeneity and publication bias were detected. UVFP is a demonstrated risk of congenital cardiothoracic surgery. Routine postoperative nasopharyngolaryngoscopy for vocal fold assessment by an otolaryngologist is suggested. Copyright © 2014 by the American Academy of Pediatrics.

Emotional Perception of Music in Children With Bimodal Fitting and Unilateral Cochlear Implant.

PubMed

Shirvani, Sareh; Jafari, Zahra; Motasaddi Zarandi, Masoud; Jalaie, Shohre; Mohagheghi, Hamed; Tale, Mohammad Reza

2016-06-01

Biological, structural, and acoustical constraints faced by cochlear implant (CI) users can alter the perception of music. Bimodal fitting not only provides bilateral hearing but can also improve auditory skills. This study was conducted to assess the impact of this amplification style on the emotional perception of music among children with hearing loss (HL). Twenty-five children with congenital severe to profound HL and unilateral CIs, 20 children with bimodal fitting, and 30 children with normal hearing participated in this study. Their emotional perceptions of music were measured using a method where children indicated happy or sad feelings induced by music by pointing to pictures of faces showing these emotions. Children with bimodal fitting obtained significantly higher mean scores than children with unilateral CIs for both happy and sad music items and in overall test scores (P < .001). Both groups with HL obtained significantly lower scores than children with normal hearing (P < .001). Bimodal fitting results in a better emotional perception of music compared to unilateral CI. Given the influence of music in neurological and linguistic development and social interactions, it is important to evaluate the possible benefits of bimodal fitting prescriptions for individuals with unilateral CIs. © The Author(s) 2015.

[Neonatal tumours and congenital malformations].

PubMed

Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data exist on the neonatal period and the majority are from medical institutions registers. The prevalence varies from 15 to 31.6%. To explain this association, the hypotheses are based on prenatal exposures (preconceptional and transplacental exposure), to mutagenic and carcinogenic risk factors. Neonatal tumours are more often associated to congenital abnormalities than other pediatric cancers. The inclusion and classification criteria needs to be unified to better understand the association between the neonatal tumours and congenital abnormalities. The environmental history in all neonatal tumours associated to congenital abnormalities, including the constitutional and environmental risk factors, will help to improve our knowledge of the underlying prenatal mechanisms and to an advance in its prevention.

Health-related quality of life in adults with congenital unilateral upper limb deficiency in Norway. A cross-sectional study.

PubMed

Johansen, Heidi; Østlie, Kristin; Andersen, Liv Øinæs; Rand-Hendriksen, Svend

2016-11-01

To examine subjective health-related quality of life (HRQoL) in adults with congenital unilateral upper limb deficiency (UULD) in Norway and to explore the associations between demographic and clinical factors and HRQoL. Cross-sectional study comparing HRQoL, measured by SF-36, among adults with UULD and an age- and gender-matched control group from the Norwegian general population (NGP). Seventy-seven respondents, median age 42 years (range: 20-82); 71% were women. Most had left-sided (61%), below elbow (53%), transverse (73%) deficiency. Compared to the NGP, the UULD group reported reduced HRQoL on all SF-36 subscales except for the role emotional (RE) scale (p=0.321), mental health (MH) (p=0.055) and mental component summary (MCS) (p=0.064). The greatest difference was on the bodily pain (BP) scale (point difference of 20.0). Multiple linear regression models showed significant association between several physical- and mental SF-36 subscales and occupational status, occurrence of comorbidity and chronic pain. Persons with UULD reported reduced HRQoL on most SF-36 subscales, mostly in the physical health domain. Employment status, occurrence of comorbidity and chronic pain seem to have a negative impact on the HRQoL. Measures that can reduce pain and loss of function should be given particular attention in UULD rehabilitation. Implications for Rehabilitation Persons with congenital unilateral upper limb deficiency (UULD) who experience pain and discomfort should seek professional help for evaluating their everyday coping strategies. Professionals who meet persons with UULD should examine anomalies, comorbidity, pain and employment status before choosing advices and actions. Individually adapted grip-improving devices, environments, physical exercise and pain management programs should be implemented early to reduce pain, loss of function and decreased HRQoL. A multidisciplinary approach is often necessary when counseling persons with UULD.

Congenital diaphragmatic hernia: Observed/expected lung-to-head ratio as a predictor of long-term morbidity.

PubMed

King, Sebastian K; Alfaraj, Malikah; Gaiteiro, Rose; O'Brien, Karel; Moraes, Theo; Humpl, Tilman; Marcon, Margaret; Chiang, Monping; Reyes, Janette; Haliburton, Beth; Ryan, Greg; Cox, Peter; Chiu, Priscilla P L

2016-05-01

The aim of this study was to investigate the association of observed/expected (O/E) lung-to-head ratio (LHR) with long-term morbidity for isolated fetal congenital diaphragmatic hernia (CDH) patients in a single institution. We performed a retrospective study of prenatally diagnosed CDH from 18 to 38weeks of gestation (01/2002-04/2010). Two cohorts of O/E LHR were defined (22.6-45%, 45.1-78.3%) based upon previous studies. Survivors with at least 1-year follow-up of prospectively collected long-term morbidity assessments were included. O/E LHR was available in 43 survivors (median 40%, range 22.8-78.3%). Follow-up data were available in 41 survivors (M:F=24:17, left CDH=39/41). Median follow-up was 6.5years (1-11years). Height/weight trajectories were similar between the two cohorts, with the majority below the 50th centile. There were no differences between the two cohorts by age 3years for Bayley scales (developmental domains) and/or REEL-3 (language development). In addition, V/Q scans in the two cohorts demonstrated similar degrees of mismatch (mean delta V/Q=35.4 versus 31.3). In fetuses with isolated CDH, a reduction in O/E LHR does not predict a worse outcome in long-term follow-up. There is no association between a lower O/E LHR and a reduction in REEL-3 or Bayley score nor V/Q mismatch. Copyright © 2016 Elsevier Inc. All rights reserved.

Abnormal intrinsic esophageal innervation in congenital diaphragmatic hernia: a likely cause of motor dysfunction.

PubMed

Pederiva, Federica; Rodriguez, Jose I; Ruiz-Bravo, Elena; Martinez, Leopoldo; Tovar, Juan A

2009-03-01

Patients with congenital diaphragmatic hernia (CDH) often have dilated esophagus and gastroesophageal reflux. Sparse intrinsic esophageal innervation has been described in rats with CDH, but this issue has not been investigated in patients with CDH. The present study tests the hypothesis that innervatory anomalies could account for motor dysfunction in human CDH. The esophagi of CDH (n = 6) and control babies dead of other causes (n = 6) were included in paraffin, transversally sectioned, and immunostained with antineurofilament and anti-S-100 antibodies. The proportion of the section surface occupied by neural structures, the ganglionar surface, and the number of neurons per ganglion were measured in 2 to 5 low-power fields from the proximal and distal esophagus with the assistance of image analysis software. Mann-Whitney tests were used for comparing the results using a threshold of significance of P < .05. The percentage of neural/muscle surface was similar in the upper esophagus in both groups, but it was significantly decreased in the lower esophagus of patients with CDH in comparison with controls. There was a relative scarcity of neural tissue in the intermuscular plexus of the lower esophagus. On the other hand, the ganglionar surface and the number of neurons per ganglion were identical in both groups. These results were similar with both immunostainings. Intrinsic innervation of the lower esophagus in CDH is abnormal in terms of decreased density of neural structures in the intermuscular plexus. These neural crest-derived anomalies could explain in part the esophageal dysfunction in survivors of CDH.

Gene expression analysis in hypoplastic lungs in the nitrofen model of congenital diaphragmatic hernia.

PubMed

Burgos, Carmen Mesas; Uggla, Andreas Ringman; Fagerström-Billai, Fredrik; Eklöf, Ann-Christine; Frenckner, Björn; Nord, Magnus

2010-07-01

Pulmonary hypoplasia and persistent pulmonary hypertension are the main causes of mortality and morbidity in newborns with congenital diaphragmatic hernia (CDH). Nitrofen is well known to induce CDH and lung hypoplasia in a rat model, but the mechanism remains unknown. To increase the understanding of the underlying pathogenesis of CDH, we performed a global gene expression analysis using microarray technology. Pregnant rats were given 100 mg nitrofen on gestational day 9.5 to create CDH. On day 21, fetuses after nitrofen administration and control fetuses were removed; and lungs were harvested. Global gene expression analysis was performed using Affymetrix Platform and the RAE 230 set arrays. For validation of microarray data, we performed real-time polymerase chain reaction and Western blot analysis. Significantly decreased genes after nitrofen administration included several growth factors and growth factors receptors involved in lung development, transcription factors, water and ion channels, and genes involved in angiogenesis and extracellular matrix. These results could be confirmed with real-time polymerase chain reaction and protein expression studies. The pathogenesis of lung hypoplasia and CDH in the nitrofen model includes alteration at a molecular level of several pathways involved in lung development. The complexity of the nitrofen mechanism of action reminds of human CDH; and the picture is consistent with lung hypoplasia and vascular disease, both important contributors to the high mortality and morbidity in CDH. Increased understanding of the molecular mechanisms that control lung growth may be the key to develop novel therapeutic techniques to stimulate pre- and postnatal lung growth. Copyright 2010 Elsevier Inc. All rights reserved.

Expression of Prx1 and Tcf4 is decreased in the diaphragmatic muscle connective tissue of nitrofen-induced congenital diaphragmatic hernia.

PubMed

Takahashi, Toshiaki; Zimmer, Julia; Friedmacher, Florian; Puri, Prem

2016-12-01

Pleuroperitoneal folds (PPFs) are the source of the primordial diaphragm's muscle connective tissue (MCT), and developmental mutations have been shown to result in congenital diaphragmatic hernia (CDH). The protein paired-related homeobox 1 (Prx1) labels migrating PPF cells and stimulates expression of transcription factor 4 (Tcf4), a novel MCT marker that controls morphogenesis of the fetal diaphragm. We hypothesized that diaphragmatic Prx1 and Tcf4 expression is decreased in the nitrofen-induced CDH model. Time-mated rats were exposed to either nitrofen or vehicle on gestational day 9 (D9). Fetal diaphragms were microdissected on D13, D15, and D18, and divided into control and nitrofen-exposed specimens. Gene expression levels of Prx1 and Tcf4 were analyzed by qRT-PCR. Immunofluorescence double staining for Prx1 and Tcf4 was performed to evaluate protein expression and localization. Relative mRNA expression of Prx1 and Tcf4 was significantly downregulated in PPFs (D13), developing diaphragms (D15) and fully muscularized diaphragms (D18) of nitrofen-exposed fetuses compared to controls. Confocal laser scanning microscopy revealed markedly diminished Prx1 and Tcf4 expression in diaphragmatic MCT of nitrofen-exposed fetuses on D13, D15, and D18 compared to controls. Decreased expression of Prx1 and Tcf4 in the fetal diaphragm may cause defects in the PPF-derived MCT, leading to development of CDH in the nitrofen model. Level 2c (Centre for Evidence-Based Medicine, Oxford). Copyright © 2016 Elsevier Inc. All rights reserved.

Disruption of the bone morphogenetic protein receptor 2 pathway in nitrofen-induced congenital diaphragmatic hernia.

PubMed

Gosemann, Jan-Hendrik; Friedmacher, Florian; Fujiwara, Naho; Alvarez, Luis A J; Corcionivoschi, Nicolae; Puri, Prem

2013-08-01

Congenital diaphragmatic hernia (CDH) remains a major therapeutic challenge despite advances in neonatal resuscitation and intensive care. The high mortality and morbidity in CDH has been attributed to pulmonary hypoplasia and persistent pulmonary hypertension (PH). Bone morphogenetic protein receptor 2 (BMPR2) plays a key role in pulmonary vasculogenesis during the late stages of fetal lung development. BMPR2 is essential for control of endothelial and smooth muscle cell proliferation. Dysfunction of BMPR2 and downstream signaling have been shown to disturb the crucial balance of proliferation of smooth muscle cells contributing to the pathogenesis of human and experimental PH. We designed this study to investigate the hypothesis that BMPR2 signaling is disrupted in nitrofen-induced CDH. Pregnant rats were treated with nitrofen or vehicle on gestational day 9 (D9). Fetuses were sacrificed on D21 and divided into CDH and control. Quantitative real-time polymerase chain reaction, Western blotting, and confocal-immunofluorescence were performed to determine pulmonary gene expression levels and protein expression of BMPR2 and related proteins. Pulmonary Bmpr2 gene expression levels were significantly decreased in nitrofen-induced CDH compared to controls. Western blotting and confocal microscopy revealed decreased pulmonary BMPR2 protein expression and increased activation of p38(MAPK) in CDH compared to controls. The observed disruption of the BMPR2 signaling pathway may lead to extensive vascular remodeling and contribute to PH in the nitrofen-induced CDH model. BMPR2 may therefore represent a potential target for the treatment of PH in CDH. © 2013 Wiley Periodicals, Inc.

Defective pulmonary innervation and autonomic imbalance in congenital diaphragmatic hernia

PubMed Central

Lath, Nikesh R.; Galambos, Csaba; Rocha, Alejandro Best; Malek, Marcus; Gittes, George K.

2012-01-01

Congenital diaphragmatic hernia (CDH) is associated with significant mortality due to lung hypoplasia and pulmonary hypertension. The role of embryonic pulmonary innervation in normal lung development and lung maldevelopment in CDH has not been defined. We hypothesize that developmental defects of intrapulmonary innervation, in particular autonomic innervation, occur in CDH. This abnormal embryonic pulmonary innervation may contribute to lung developmental defects and postnatal physiological derangement in CDH. To define patterns of pulmonary innervation in CDH, human CDH and control lung autopsy specimens were stained with the pan-neural marker S-100. To further characterize patterns of overall and autonomic pulmonary innervation during lung development in CDH, the murine nitrofen model of CDH was utilized. Immunostaining for protein gene product 9.5 (a pan-neuronal marker), tyrosine hydroxylase (a sympathetic marker), vesicular acetylcholine transporter (a parasympathetic marker), or VIP (a parasympathetic marker) was performed on lung whole mounts and analyzed via confocal microscopy and three-dimensional reconstruction. Peribronchial and perivascular neuronal staining pattern is less complex in human CDH than control lung. In mice, protein gene product 9.5 staining reveals less complex neuronal branching and decreased neural tissue in nitrofen-treated lungs from embryonic day 12.5 to 16.5 compared with controls. Furthermore, nitrofen-treated embryonic lungs exhibited altered autonomic innervation, with a relative increase in sympathetic nerve staining and a decrease in parasympathetic nerve staining compared with controls. These results suggest a primary defect in pulmonary neural developmental in CDH, resulting in less complex neural innervation and autonomic imbalance. Defective embryonic pulmonary innervation may contribute to lung developmental defects and postnatal physiological derangement in CDH. PMID:22114150

Upregulation of serotonin-receptor-2a and serotonin transporter expression in the pulmonary vasculature of nitrofen-induced congenital diaphragmatic hernia.

PubMed

Hofmann, Alejandro D; Friedmacher, Florian; Hunziker, Manuela; Takahashi, Hiromizu; Duess, Johannes W; Gosemann, Jan-Hendrik; Puri, Prem

2014-06-01

Congenital diaphragmatic hernia (CDH) is attributed to severe pulmonary hypoplasia and pulmonary hypertension (PH). PH is characterized by structural changes resulting in vascular remodeling. Serotonin, a potent vasoconstrictor, plays a central role in the development of PH. It exerts its constricting effects on the vessels via Serotonin receptor 2A (5-HT2A) and induces pulmonary smooth muscle cell proliferation via the serotonin transporter (5-HTT). This study was designed to investigate expressions of 5-HT2A and 5-HTT in the pulmonary vasculature of rats with nitrofen-induced CDH. Rats were exposed to nitrofen or vehicle on D9. Fetuses were sacrificed on D21 and divided into nitrofen and control group (n=32). Pulmonary RNA was extracted and mRNA level of 5HT2A was determined by qRT-PCR. Protein expression of 5HT2A and 5-HTT was investigated by western blotting. Confocal immunofluorescence double-staining for 5-HT2A, 5-HTT, and alpha smooth muscle actin were performed. Pulmonary 5-HT2A gene expression levels were significantly increased in nitrofen-induced CDH compared to controls. Western blotting and confocal microscopy confirmed increased pulmonary protein expression in CDH lungs compared to controls. Increased gene and protein expression of 5HT2A and 5-HTT in the pulmonary vasculature of nitrofen-induced CDH lungs suggest that 5HT2A and 5-HTT are important mediators of PH in nitrofen-induced CDH. Copyright © 2014 Elsevier Inc. All rights reserved.

Pax3 gene expression is not altered during diaphragmatic development in nitrofen-induced congenital diaphragmatic hernia.

PubMed

Gosemann, Jan-Hendrik; Doi, Takashi; Kutasy, Balazs; Friedmacher, Florian; Dingemann, Jens; Puri, Prem

2012-06-01

Malformations of the pleuroperitoneal folds (PPFs) have been identified as the origin of the diaphragmatic defect in congenital diaphragmatic hernia (CDH). Pax3, expressed in muscle precursor cells (MPCs), plays a key role in regulating myogenesis and muscularization in the fetal diaphragm. Pax3 mutant mice display absence of muscular diaphragm. However, the distribution of muscle precursor cells is reported to be normal in the PPF of the nitrofen-CDH model. We designed this study to investigate the hypothesis that Pax3 gene expression is unaltered in the PPF and developing diaphragm in the nitrofen-induced CDH model. Pregnant rats were treated with nitrofen or vehicle on gestational day (D) 9 and sacrificed on D13, D18, and D21. Pleuroperitoneal folds (D13) and developing diaphragms (D18 and D21) were dissected, total RNA was extracted, and real-time quantitative polymerase chain reaction was performed to determine Pax3 messenger RNA levels. Confocal immunofluorescence microscopy was performed to evaluate protein expression/distribution of Pax3. Relative messenger RNA expression levels of Pax3 in PPFs and developing diaphragms were not significantly different in the nitrofen group compared with controls. Intensity of Pax3 immunofluorescence was also not altered in PPFs and developing diaphragms of the nitrofen group compared with controls. Pax3 gene expression is not altered in the PPFs and developing diaphragm of nitrofen-CDH model, suggesting that the diaphragmatic defect is not caused by disturbance of myogenesis and muscularization. Copyright © 2012 Elsevier Inc. All rights reserved.

Increased c-kit and stem cell factor expression in the pulmonary vasculature of nitrofen-induced congenital diaphragmatic hernia.

PubMed

Takahashi, Toshiaki; Friedmacher, Florian; Zimmer, Julia; Puri, Prem

2016-05-01

Persistent pulmonary hypertension(PPH) in congenital diaphragmatic hernia (CDH) is caused by increased vascular cell proliferation and endothelial cell (EC) dysfunction, thus leading to obstructive changes in the pulmonary vasculature. C-Kit and its ligand, stem cell factor(SCF), are expressed by ECs in the developing lung mesenchyme, suggesting an important role during lung vascular formation. Conversely, absence of c-Kit expression has been demonstrated in ECs of dysplastic alveolar capillaries. We hypothesized that c-Kit and SCF expression is increased in the pulmonary vasculature of nitrofen-induced CDH. Timed-pregnant rats received nitrofen or vehicle on gestational day 9(D9). Fetuses were sacrificed on D15, D18, and D21, and divided into control and CDH group. Pulmonary gene expression levels of c-Kit and SCF were analyzed by qRT-PCR. Immunofluorescence double staining for c-Kit and SCF was combined with CD34 to evaluate protein expression in ECs of the pulmonary vasculature. Relative mRNA levels of c-Kit and SCF were significantly increased in lungs of CDH fetuses on D15, D18, and D21 compared to controls. Confocal laser scanning microscopy confirmed markedly increased vascular c-Kit and SCF expression in mesenchymal ECs of CDH lungs on D15, D18, and D21 compared to controls. Increased expression of c-Kit and SCF in the pulmonary vasculature of nitrofen-induced CDH lungs suggest that increased c-Kit signaling during lung vascular formation may contribute to vascular remodeling and thus to PPH. Copyright © 2016 Elsevier Inc. All rights reserved.

Decreased expression of monocarboxylate transporter 1 and 4 in the branching airway epithelium of nitrofen-induced congenital diaphragmatic hernia.

PubMed

Takahashi, Toshiaki; Friedmacher, Florian; Zimmer, Julia; Puri, Prem

2016-06-01

Monocarboxylate transporters (MCTs) are crucial for the maintenance of intracellular pH homeostasis in developing fetal lungs. MCT1/4 is strongly expressed by epithelial airway cells throughout lung branching morphogenesis. Functional inhibition of MCT1/4 in fetal rat lung explants has been shown to result in airway defects similar to pulmonary hypoplasia (PH) in congenital diaphragmatic hernia (CDH). We hypothesized that pulmonary expression of MCT1/4 is decreased during lung branching morphogenesis in the nitrofen model of CDH-associated PH. Timed-pregnant rats received nitrofen or vehicle on gestational day 9 (D9). Fetuses were harvested on D15, D18, and D21, and divided into control and nitrofen-exposed group. Pulmonary gene expression levels of MCT1/4 were analyzed by qRT-PCR. Immunofluorescence staining for MCT1/4 was combined with E-cadherin in order to evaluate protein expression in branching airway tissue. Relative mRNA levels of MCT1/4 were significantly reduced in lungs of nitrofen-exposed fetuses on D15, D18, and D21 compared to controls. Confocal laser scanning microscopy confirmed markedly decreased immunofluorescence of MCT1/4 in distal bronchial and primitive alveolar epithelium of nitrofen-exposed fetuses on D15, D18, and D21 compared to controls. Decreased expression of MCT1/4 in distal airway epithelium may disrupt lung branching morphogenesis and thus contribute to the development of PH in the nitrofen-induced CDH model. Copyright © 2016 Elsevier Inc. All rights reserved.

Effect of Perflubron-induced lung growth on pulmonary vascular remodeling in congenital diaphragmatic hernia.

PubMed

Shah, Mansi; Phillips, Michael R; Bryner, Benjamin; Hirschl, Ronald B; Mychaliska, George B; McLean, Sean E

2016-06-01

Congenital diaphragmatic hernia (CDH) involves lung hypoplasia and pulmonary hypertension (PH). Post-natal Perflubron ventilation induces lung growth. This phenomenon is called Perflubon-induced lung growth (PILG). However, it does not appear to ameliorate PH in CDH. We aim to determine the effect of PILG on pulmonary vascular remodeling in neonates with CDH and PH requiring extracorporeal membrane oxygenation (ECMO). Lung tissue from four patients was obtained, three treated with PILG + ECMO, and one maintained on conventional ventilation + ECMO (control). The distribution of collagen was assessed with Masson's trichrome stain. Immunohistochemistry was done to assess cell proliferation and immunofluorescence to assess vascular morphology. Comparing PILG vs. control, there was an increase in vessel wall diameter (6.85 μm, 10.28 μm, and 10.35 μm vs. 4.34 μm), increase in collagen thickness in two PILG patients (35.66 μm, 14.23 μm, and 38.46 μm vs. 22.16 μm), and decrease in lumen diameter despite similar total area (48.99 μm, 41.74 μm, and 36.32 μm vs. 51.56 μm) for each PILG patient vs. the control patient, respectively. PILG does not appear to improve pulmonary vascular remodeling that occurs with PH. The findings are descriptive and will require larger samples to validate the significance of the findings. Overall, further studies will be required to identify the mechanistic causes of PH in CDH to create effective treatments.

Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.

PubMed

Zhu, Qihui; High, Frances A; Zhang, Chengsheng; Cerveira, Eliza; Russell, Meaghan K; Longoni, Mauro; Joy, Maliackal P; Ryan, Mallory; Mil-Homens, Adam; Bellfy, Lauren; Coletti, Caroline M; Bhayani, Pooja; Hila, Regis; Wilson, Jay M; Donahoe, Patricia K; Lee, Charles

2018-05-15

Congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and hypoplasia of the lungs, is one of the most common and severe birth defects, and is associated with high morbidity and mortality rates. There is growing evidence demonstrating that genetic factors contribute to CDH, although the pathogenesis remains largely elusive. Single-nucleotide polymorphisms have been studied in recent whole-exome sequencing efforts, but larger copy number variants (CNVs) have not yet been studied on a large scale in a case control study. To capture CNVs within CDH candidate regions, we developed and tested a targeted array comparative genomic hybridization platform to identify CNVs within 140 regions in 196 patients and 987 healthy controls, and identified six significant CNVs that were either unique to patients or enriched in patients compared with controls. These CDH-associated CNVs reveal high-priority candidate genes including HLX , LHX1 , and HNF1B We also discuss CNVs that are present in only one patient in the cohort but have additional evidence of pathogenicity, including extremely rare large and/or de novo CNVs. The candidate genes within these predicted disease-causing CNVs form functional networks with other known CDH genes and play putative roles in DNA binding/transcription regulation and embryonic development. These data substantiate the importance of CNVs in the etiology of CDH, identify CDH candidate genes and pathways, and highlight the importance of ongoing analysis of CNVs in the study of CDH and other structural birth defects. Copyright © 2018 the Author(s). Published by PNAS.

A case of congenital corneal keloid.

PubMed

Song, Jong-Suk; Kwon, Sangwon; Shyn, Kyung-Hwan

2005-06-01

To describe a case of unilateral comeal keloid and present the clinical and histopathological findings and the management. A 23-year-old Asian male patient was examined for a white spot on the left cornea that had been present since birth. On biomicroscopic examination, a well-demarcated vascularized comeal mass was found located nasal to the center. The pupil was displaced superiorly, and gonioscopic examination showed peripheral iridocomeal adhesion at 12 o'clock. The patient underwent penetrating keratoplasty. Histopathologic study showed a variously thickened epithelial layer, an absence of Bowman's layer, subepithelial fibrovascular hyperplasia, and an absence of dermal elements. These histopathologic findings suggested a congenital comeal keloid. The central graft comea remained clear at 18 months after surgery and the patient was satisfied with the result. Penetrating keratoplasty may be an effective surgical option for congenital keloids in young adult patients.

Selective atrophy in the lateral geniculate nucleus associated with iris coloboma in cat.

PubMed

Richards, W

1977-01-01

A kitten with a unilateral, congenital coloboma of the iris was raised in a normal environment and sacrificed at 6 monthlicted eye was seen in Nissl-stained sections taken through the lateral geniculate. The result suggests that image degradation is more important than luminance reduction in causing selective changes in the visual pathway.

Decreased recurrence rate in the laparoscopic herniorraphy in children: comparison between two techniques.

PubMed

Marte, Antonio; Sabatino, Maria D; Borrelli, Micaela; Parmeggiani, Pio

2009-04-01

The laparoscopic herniorraphy in children is still associated to a high recurrence rate. The aim of this study was to assess whether the addition of the lateral incision of the sac to the sole suture of the inner inguinal ring could reduce the recurrence rate. A retrospective review was performed of the collected data of 248 laparoscopic inguinal hernia repairs in 224 children (175 males, 49 females) between 8 months and 11 years of age (mean age, 5 years; median, 4) in our institution from January 2004 to December 2007. The hernia was unilateral in 204 patients (133 on the right side, 71 on the left) and bilateral in 20 patients. A 5-mm umbilical camera port for a 0-degree laparoscopic optics and two operative 2- or 3-mm reusable trocars inserted in the lower right and left quadrants of the abdominal wall were utilized. In a group of 123 patients, the inner inguinal ring was closed, adopting a W-shaped suture (inguinal ring suture; IRS). In the other group of 101 patients, a lateral incision of the sac of 1-2 cm was carried out before the W-shaped suture of the inner inguinal ring (inguinal ring incision suture; IRIS). At a mean follow-up of 24 months (range, 6-36), 5 of 133 (3.76%) hernias recurred between 6 and 12 months after surgery in the IRS group. In the IRIS group, none of the patients presented with recurrence. The rate of recurrences in the two groups was compared and analyzed with the x2 test. The resulting difference was statistically significant (P < 0.05). In our experience, the incision of the peritoneum lateral to the internal inguinal ring and the W-shaped suture, compared to the sole W-shaped suture, is safe and effective in preventing hernia recurrence.

Prevalence and spectrum of in utero structural brain abnormalities in fetuses with complex congenital heart disease.

PubMed

Brossard-Racine, M; du Plessis, A J; Vezina, G; Robertson, R; Bulas, D; Evangelou, I E; Donofrio, M; Freeman, D; Limperopoulos, C

2014-08-01

Brain injury is a major complication in neonates with complex congenital heart disease. Preliminary evidence suggests that fetuses with congenital heart disease are at greater risk for brain abnormalities. However, the nature and frequency of these brain abnormalities detected by conventional fetal MR imaging has not been examined prospectively. Our primary objective was to determine the prevalence and spectrum of brain abnormalities detected on conventional clinical MR imaging in fetuses with complex congenital heart disease and, second, to compare the congenital heart disease cohort with a control group of fetuses from healthy pregnancies. We prospectively recruited pregnant women with a confirmed fetal congenital heart disease diagnosis and healthy volunteers with normal fetal echocardiogram findings who underwent a fetal MR imaging between 18 and 39 weeks gestational age. A total of 338 fetuses (194 controls; 144 with congenital heart disease) were studied at a mean gestational age of 30.61 ± 4.67 weeks. Brain abnormalities were present in 23% of the congenital heart disease group compared with 1.5% in the control group (P < .001). The most common abnormalities in the congenital heart disease group were mild unilateral ventriculomegaly in 12/33 (36.4%) and increased extra-axial spaces in 10/33 (30.3%). Subgroup analyses comparing the type and frequency of brain abnormalities based on cardiac physiology did not reveal significant associations, suggesting that the brain abnormalities were not limited to those with the most severe congenital heart disease. This is the first large prospective study reporting conventional MR imaging findings in fetuses with congenital heart disease. Our results suggest that brain abnormalities are prevalent but relatively mild antenatally in fetuses with congenital heart disease. The long-term predictive value of these findings awaits further study. © 2014 by American Journal of Neuroradiology.

Embryologic and anatomic basis of inguinal herniorrhaphy.

PubMed

Skandalakis, J E; Colborn, G L; Androulakis, J A; Skandalakis, L J; Pemberton, L B

1993-08-01

The embryology and surgical anatomy of the inguinal area is presented with emphasis on embryologic and anatomic entities related to surgery. We have presented the factors, such as patent processus vaginalis and defective posterior wall of the inguinal canal, that may be responsible for the genesis of congenital inguinofemoral herniation. These, together with impaired collagen synthesis and trauma, are responsible for the formation of the acquired inguinofemoral hernia. Still, we do not have all the answers for an ideal repair. Despite the latest successes in repair, we, to paraphrase Ritsos, are awaiting the triumphant return of Theseus.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

PubMed Central

Kantarci, Sibel; Al-Gazali, Lihadh; Hill, R Sean; Donnai, Dian; Black, Graeme C M; Bieth, Eric; Chassaing, Nicolas; Lacombe, Didier; Devriendt, Koen; Teebi, Ahmad; Loscertales, Maria; Robson, Caroline; Liu, Tianming; MacLaughlin, David T; Noonan, Kristin M; Russell, Meaghan K; Walsh, Christopher A; Donahoe, Patricia K; Pober, Barbara R

2010-01-01

Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. By studying multiplex families, we mapped this disorder to chromosome 2q23.3–31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome. LRP2 encodes megalin, a multiligand uptake receptor that regulates levels of diverse circulating compounds. This work implicates a pathway with potential pharmacological therapeutic targets. PMID:17632512

Inguinal ovary as a rare diagnostic sign of Mayer-Rokitansky-Küster-Hauser syndrome.

PubMed

Demirel, Fatma; Kara, Ozlem; Esen, Ihsan

2012-01-01

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare syndrome characterized by complete or partial agenesis of the uterus and vagina, due to a congenital defect of the Mullerian duct. Affected individuals have a 46,XX karyotype and a normal female phenotype. MRKH syndrome may be isolated (type I MRKH syndrome) or associated with renal, cardiac, and skeletal anomalies, short stature, and auditory defects. The latter is defined as type II MRKH syndrome or the Müllerian duct aplasia/hypoplasia, renal agenesis/ectopy, and cervicothoracic somite dysplasia (MURCS) association. The majority of patients with MRKH syndrome present with primary amenorrhea. We report a case of type II MRKH syndrome who has been referred by a pediatric surgeon for detection of gonadal function. During an inguinal hernia operation, the left ovary had been observed in the hernia sac. Clinical and radiological evaluation of the patient showed an absence of the uterus and left kidney, and cervical hemi vertebra. Based on these findings, the patient was diagnosed as having type II MRKH syndrome.

Transthoracic repair of Morgagni's hernia: a 20-year experience from open to video-assisted approach.

PubMed

Ambrogi, V; Forcella, D; Gatti, A; Vanni, G; Mineo, T C

2007-04-01

Foramen of Morgagni's hernia is an uncommon congenital diaphragmatic hernia. Repair is mostly performed through laparotomy. We prefer the transthoracic approach, which allows better and safer control during thoracic dissection, although it is considered more painful and related to greater morbidity. In recent years we introduced the transxiphoid hand-assisted videothoracoscopic approach, which combines the advantages of the thoracic route with a mini-invasive procedure facilitated by one hand inside the chest. A retrospective review was performed over a 20-year period (1985-2005). Twenty-two patients who had a foramen of Morgagni's hernia repaired were identified and relevant data were collected. Average age was 57 +/- 10 years and one half of the patients were asymptomatic. Chest roentgenograms, chest computerized tomography, and barium enema were used as diagnostic utilities. Posterolateral thoracotomy was performed in 17 (15 right-sided) patients, whereas in 5 (all right-sided) the defect was repaired by transxiphoid hand-assisted videothoracoscopy. Operative time, pain scored by visual analog scale, hospital stay, and cosmetic results by acceptance score were reviewed for every patient. Hernial sac was present in all cases and contained only omentum (n = 13), omentum plus transverse colon (n = 7), omentum plus transverse colon and small bowel (n = 2). In 6 patients (2 videothoracoscopy) we repaired the large defects with polypropylene mesh. Videothoracoscopy achieved significant good results compared to thoracotomy in operative time (85 +/- 7.9 versus 110 +/- 11.3 min, p < 0.01), 24-h visual analog scale (3.5 +/- 1.1 versus 6.7 +/- 3.9, p < 0.01), hospital stay (2.6 +/- 0.5 versus 6.4 +/- 1.2 days, p < 0.01), and acceptance score (4.3 +/- 0.5 versus 3.1 +/- 0.8, p < 0.05). Postoperative course was always uneventful. Patients were followed for an average period of 58.6 +/- 14.7 and 109.7 +/- 43.5 months, respectively: no recurrences were found in any group. We believe that the transthoracic approach is a safe and effective method for repairing Morgagni's hernia. The videothoracoscopic approach is a promising alternative and it may be facilitated by introducing a hand inside the chest.

Children with optic nerve hypoplasia face a high risk of neurodevelopmental disorders.

PubMed

Dahl, Sara; Wickström, Ronny; Ek, Ulla; Teär Fahnehjelm, Kristina

2018-03-01

Optic nerve hypoplasia (ONH) is a congenital ocular malformation that has been associated with neurodevelopmental disorders, but the prevalence in unilateral disease and less severe visual impairment is unknown. We studied intellectual disability and autism spectrum disorders (ASDs) in patients with ONH. This was a population-based cross-sectional cohort study of 65 patients (33 female) with ONH below 20 years of age, living in Stockholm in December 2009, with data analysed in January 2016. Of these 35 were bilateral and 30 were unilateral. Neurodevelopmental disorders were diagnosed or confirmed by neurological assessments, the Five to Fifteen parent questionnaire and reviewing previous neuropsychological investigations or conducting neuropsychological tests. Bilateral ONH patients had lower mean full scale intelligence quotient scores than unilateral patients (84.4 and 99.4, respectively, p = 0.049). We assessed intellectual disability in 55 eligible patients, and it was more common in patients with bilateral ONH (18 of 32, 56%) than unilateral ONH (two of 23, 9%, p < 0.001). ASDs were diagnosed in seven of 42 (17%) patients. Children with bilateral ONH had a high risk of neurodevelopmental disorders, especially intellectual disability. The risk was lower in unilateral ONH, but the levels of neurodevelopmental disorders warrant screening of both groups. ©2017 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum.

PubMed

John, Jomol Sara; Vanitha, R

2013-09-01

Moebius syndrome is a rare congenital neurological disorder. The most frequent mode of presentation is facial diplegia with bilateral lateral rectus palsy, but there are variations. Here, we report a rare case of Moebius syndrome in a 15-month-old child with unilateral facial palsy, bilateral abducens nerve palsy with Dandy Walker variant, and complete agenesis of corpus callosum.

Testicular Fibrous Hypoplasia in Cynomolgus Monkeys ( Macaca fascicularis): An Incidental, Congenital Lesion.

PubMed

Pereira Bacares, Marcia E; Vemireddi, Vimala; Creasy, Dianne

2017-06-01

Testicular fibrous hypoplasia is an incidental lesion characterized by replacement of the testicular parenchyma by mature collagen. A retrospective survey of hematoxylin and eosin-stained testicular sections from 722 purpose-bred Asian and 90 Mauritian cynomolgus monkeys from 56 safety assessment studies conducted between 1999 and 2011 was performed. The incidence of the lesion increased markedly over time. No cases occurred between 1999 and 2004. Between 2005 and 2009, the incidence ranged between 8.1% and 11.0% of the monkeys examined and then rose to 26.1% in 2010 and 30.9% in 2011. Overall, the lesion was identified in 10.94% of Asian monkeys with the highest incidence in animals originating from China and Vietnam; severity ranged from minimal to severe and it occurred unilaterally (38.5%) and bilaterally (61.5%). In Mauritian monkeys, the lesion was predominantly minimal in severity, bilateral in distribution, and affected 6.6% of the animals examined. The lesion occurred regardless of sexual maturation status but when present in mature monkeys was often associated with cystic tubular atrophy of the seminiferous epithelium. Based on the morphological characteristics of the lesion and the unilateral/bilateral distribution, the lesion is considered to be a congenital or developmental abnormality.

Mortality following congenital diaphragmatic hernia repair: the role of anesthesia.

PubMed

Goonasekera, Chulananda; Ali, Kamal; Hickey, Ann; Sasidharan, Lekshmi; Mathew, Malcolm; Davenport, Mark; Greenough, Anne

2016-12-01

Mortality following surgical repair of congenital diaphragmatic hernia (CDH) remains high. The volume and type of perioperative intravenous fluid administered, baro-trauma, oxygen toxicity, and the duration of anesthesia are thought to affect outcome in surgical populations. The aim of this retrospective observational study was to determine whether the perioperative volume or type of fluids and/or the duration of anesthesia were associated with postoperative mortality and if mortality was predicted by the oxygenation index (OI) prior to or following CDH surgical repair. The records of infants with a left-sided CDH and without other congenital anomalies, who underwent surgical repair between April 2009 and March 2015, were examined. The oxygenation index was used to "quantify" the severity of lung function abnormality and reported as the best OI on day 1 after birth (OI BEST ), the OI immediately prior to surgery (OI PRE ) and at 1, 6, 12, and 24 h postsurgery (OI 1h , OI 6h , OI 12h , OI 24h ), respectively. The change in the OI index (delta OI) was calculated by subtracting OI PRE from postoperative OIs. The records of 37 CDH infants (median gestational age 35.8, range 31.5-41.4 weeks) were assessed; six died postoperatively. Neither the duration of anesthesia, the volume of crystalloids or colloids administered, nor the peak inflation pressures used during surgical repair were significantly correlated with postoperative mortality. Neither fetal tracheal occlusion nor use of a parietal patch significantly influenced mortality. The postoperative OI 1 h , OI 6h , OI 12h showed weak evidence for a difference between survivors and nonsurvivors. An OI 24h of ≥5.5 predicted mortality with 100% sensitivity (95% CI, confidence intervals (CI) 40-100) and 93.1% specificity (95% CI, 77-99). Neither the volume of intraoperative fluids administered nor the duration of anesthesia was associated with postoperative death. The OI 24 h postsurgery was the best predictor of an increased risk of mortality. © 2016 John Wiley & Sons Ltd.

Diagnosis and clinical characteristics of congenital anosmia: case series report.

PubMed

Qu, Qiuyi; Liu, Jianfeng; Ni, Daofeng; Zhang, Qiuhang; Yang, Dazhang; Wang, Naya; Wu, Xueyan; Han, Honglei

2010-12-01

congenital anosmia is extremely rare and tends to present late. We report on a series of patients with congenital anosmia to analyze its clinical characteristics and present illustrative cases. retrospective chart review. tertiary care centre. thirty-five patients with congenital anosmia were reviewed. A thorough medical history taking, physical examination, and nasal endoscopy were performed in all patients. T&T olfactory testing (n = 33), olfactory event-related potentials (OERPs) (n = 33), and sinonasal computed tomography (CT) (n = 35) were carried out. Magnetic resonance images (MRIs) of the olfactory pathway (n = 34) were available. Serum sex hormones were tested (n = 33). physical examination, olfactory testing, MRI of the olfactory pathway, and serum sex hormones. twenty cases were isolated congenital anosmia (ICA). Fifteen cases were congenital anosmia with other anomalies, including 12 cases with Kallmann syndrome (KS), two with CHARGE syndrome, and one with hypoplasia of the nasal cavity and nasal sinus. T&T olfactory testing indicated anosmia (n = 33). No OERP was obtained (n = 33). CT scans indicated three abnormal patients, including two with unilateral choanal atresia and one with hypoplasia of the nasal cavity and sinus. MRI demonstrated aplasia or hypoplasia of the olfactory bulbs, tracts, and olfactory sulci (n = 34). Serum sex hormones were low in 12 patients with KS. early diagnosis of congenital anosmia on the basis of olfactory symptoms is difficult. MRI of the olfactory pathway plays an important role in anatomic location. ICA is the most common congenital anosmia. KS is the primary presentation of congenital anosmia with other anomalies.

Re-evaluation of lung to thorax transverse area ratio immediately before birth in predicting postnatal short-term outcomes of fetuses with isolated left-sided congenital diaphragmatic hernia: A single center analysis.

PubMed

Kido, Saki; Hidaka, Nobuhiro; Sato, Yuka; Fujita, Yasuyuki; Miyoshi, Kina; Nagata, Kouji; Taguchi, Tomoaki; Kato, Kiyoko

2018-05-01

We aimed to investigate whether the lung-to-thorax transverse area ratio (LTR) immediately before birth is of diagnostic value for the prediction of postnatal short-term outcomes in cases of isolated left-sided congenital diaphragmatic hernia (CDH). We retrospectively reviewed the cases of fetal isolated left-sided CDH managed at our institution between April 2008 and July 2016. We divided the patients into two groups based on LTR immediately before birth, using a cut-off value of 0.08. We compared the proportions of subjects within the two groups who survived until discharge using Fisher's exact test. Further, using Spearman's rank correlation, we assessed whether LTR was correlated with length of stay, duration of mechanical ventilation, and supplemental oxygen. Twenty-nine subjects were included (five with LTR < 0.08, and 24 with LTR ≥ 0.08). The proportion of subjects surviving until discharge was 40% (2/5) for patients with LTR < 0.08, as compared with 96% (23/24) for those with LTR ≥ 0.08. LTR measured immediately before birth was negatively correlated with the postnatal length of stay (Spearman's rank correlation coefficient, rs = -0.486), and the duration of supplemental oxygen (rs = -0.537). Further, the duration of mechanical ventilation was longer in patients with a lower LTR value. LTR immediately before birth is useful for the prediction of postnatal short-term outcomes in fetuses with isolated left-sided CDH. In particular, patients with prenatal LTR value less than 0.08 are at increased risk of postnatal death. © 2017 Japanese Teratology Society.

The quantitative lung index and the prediction of survival in fetuses with congenital diaphragmatic hernia.

PubMed

Illescas, Tamara; Rodó, Carlota; Arévalo, Silvia; Giné, Carles; Peiró, José L; Carreras, Elena

2016-03-01

The lung-to-head ratio (LHR) is routinely used to select the best candidates for prenatal surgery and to follow-up the fetuses with congenital diaphragmatic hernia (CDH). Since this index is gestation-dependent, the quantitative lung index (QLI) was proposed as an alternative parameter that stays constant throughout pregnancy. Our objective was to study the performance of QLI to predict survival in fetuses with CDH. Observational retrospective study of fetuses with isolated CDH, referred to our center. LHR was originally used for the prenatal surgery evaluation. We calculated the QLI and compared the performance of both indexes (QLI and LHR) to predict survival. From January-2009 to February-2015 we followed 31 fetuses with isolated CDH. The mean QLI was 0.66 (95% CI: 0.57-0.75) for survivors and 0.41 (95% CI: 0.25-0.58) for non-survivors (p<0.01) and the mean LHR was 1.38 (95% CI: 1.17-1.60) for survivors and 0.91 (95% CI: 0.57-1.25) for non-survivors (p<0.02). All operated fetuses (n=12) had a LHR <1 and a QLI <0.5 and none of them survived when the QLI was <0.32. When separately considering the prenatal surgery status, the mean values of the QLI (but not those of the LHR) were still significantly different between survivors and non-survivors. The comparative ROC curves showed a better performance of the QLI with respect to the LHR for the prediction of survival, especially in the group of operated fetuses, although differences were not statistically significant. The QLI seems to be a better predictor for survival than the LHR, especially for the group of fetuses undergoing prenatal surgery. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Prenatal retinoic acid increases lipofibroblast expression in hypoplastic rat lungs with experimental congenital diaphragmatic hernia.

PubMed

Friedmacher, Florian; Fujiwara, Naho; Hofmann, Alejandro D; Takahashi, Hiromizu; Alvarez, Luis A J; Gosemann, Jan-Hendrik; Puri, Prem

2014-06-01

Prenatal administration of all-trans retinoic acid (ATRA) has been shown to stimulate alveolarization in nitrofen-induced pulmonary hypoplasia (PH) associated with congenital diaphragmatic hernia (CDH). Lipid-containing interstitial lipofibroblasts (LIFs), characterized by adipocyte differentiation-related protein (ADRP), play a critical role in alveolar development by coordinating lipid homeostasis. Previous studies have demonstrated that ATRA positively affects LIF expression in developing lungs. We hypothesized that pulmonary LIF expression is increased after prenatal ATRA treatment in the nitrofen model of CDH-associated PH. Timed-pregnant rats were treated with nitrofen or vehicle on E9.5, followed by injection of ATRA or placebo on E18.5, E19.5, and E20.5. Fetal lungs were dissected on E21.5 and divided into Control+Placebo, Control+ATRA, Nitrofen+Placebo, and Nitrofen+ATRA. Pulmonary gene expression levels of ADRP were analyzed by quantitative real-time polymerase chain reaction, and LIF expression was investigated by ADRP immunohistochemistry, oil-red-O-, and immunofluorescence-double-staining. Relative mRNA expression of pulmonary ADRP was significantly increased in Nitrofen+ATRA compared to Nitrofen+Placebo (0.31±0.02 vs. 0.08±0.01; P<0.0001). ADRP immunoreactivity and oil-red-O-staining were markedly increased in alveolar interstitium of Nitrofen+ATRA compared to Nitrofen+Placebo. Immunofluorescence-double-staining confirmed markedly increased LIF expression in alveolar walls of Nitrofen+ATRA compared to Nitrofen+Placebo. Increased LIF expression after prenatal treatment with ATRA in nitrofen-induced PH suggests that ATRA may have a therapeutic potential in attenuating CDH-associated PH by stimulating alveolar development. Copyright © 2014 Elsevier Inc. All rights reserved.

VEGF receptor expression decreases during lung development in congenital diaphragmatic hernia induced by nitrofen

PubMed Central

Sbragia, L.; Nassr, A.C.C.; Gonçalves, F.L.L.; Schmidt, A.F.; Zuliani, C.C.; Garcia, P.V.; Gallindo, R.M.; Pereira, L.A.V.

2014-01-01

Changes in vascular endothelial growth factor (VEGF) in pulmonary vessels have been described in congenital diaphragmatic hernia (CDH) and may contribute to the development of pulmonary hypoplasia and hypertension; however, how the expression of VEGF receptors changes during fetal lung development in CDH is not understood. The aim of this study was to compare morphological evolution with expression of VEGF receptors, VEGFR1 (Flt-1) and VEGFR2 (Flk-1), in pseudoglandular, canalicular, and saccular stages of lung development in normal rat fetuses and in fetuses with CDH. Pregnant rats were divided into four groups (n=20 fetuses each) of four different gestational days (GD) 18.5, 19.5, 20.5, 21.5: external control (EC), exposed to olive oil (OO), exposed to 100 mg nitrofen, by gavage, without CDH (N-), and exposed to nitrofen with CDH (CDH) on GD 9.5 (term=22 days). The morphological variables studied were: body weight (BW), total lung weight (TLW), left lung weight, TLW/BW ratio, total lung volume, and left lung volume. The histometric variables studied were: left lung parenchymal area density and left lung parenchymal volume. VEGFR1 and VEGFR2 expression were determined by Western blotting. The data were analyzed using analysis of variance with the Tukey-Kramer post hoc test. CDH frequency was 37% (80/216). All the morphological and histometric variables were reduced in the N- and CDH groups compared with the controls, and reductions were more pronounced in the CDH group (P<0.05) and more evident on GD 20.5 and GD 21.5. Similar results were observed for VEGFR1 and VEGFR2 expression. We conclude that N- and CDH fetuses showed primary pulmonary hypoplasia, with a decrease in VEGFR1 and VEGFR2 expression. PMID:24519134

Decreased expression of GATA4 in the diaphragm of nitrofen-induced congenital diaphragmatic hernia.

PubMed

Dingemann, Jens; Doi, Takashi; Gosemann, Jan-Hendrik; Ruttenstock, Elke Maria; Nakazawa, Nana; Puri, Prem

2013-04-01

The molecular mechanisms underlying the diaphragmatic defect in congenital diaphragmatic hernia (CDH) are still poorly understood. The transcription factor GATA4 is essential for normal development of the diaphragm. Recently, mutations in the GATA4 gene have been linked to human and rodent CDH. We hypothesized that diaphragmatic GATA4 expression is downregulated in the nitrofen CDH model. Pregnant rats received Nitrofen or vehicle on day 9 of gestation (D9). Fetuses were sacrificed on D13, D18, or D21. Pleuroperitoneal folds (n=20) and fetal diaphragms (n=40) were (micro) dissected and divided into CDH group and controls. RNA and protein were extracted. GATA4 mRNA levels were determined by real-time PCR. Protein levels were determined by ELISA and Immunohistochemistry. mRNA levels and Protein levels were significantly decreased in the CDH group compared to controls on D13 (mRNA 15.96±6.99 vs. 38.10±5.01, p<0.05), D18 (mRNA 10.45±1.84 vs. 17.68±2.11, Protein 2.59±0.06 vs. 4.58±0.35 p<0.05) and D21 (mRNA 4.31±0.83 vs. 6.87±0.88, Protein 0.16±0.08 vs. 1.26±0.49, p<0.05). Immunoreactivity of GATA4 was markedly decreased in CDH-diaphragms on D13, D18, and D21. We provide evidence for the first time that diaphragmatic expression of GATA4 is downregulated in the nitrofen model, suggesting that decreased expression of GATA4 may impair diaphragmatic development in nitrofen-induced CDH. © 2013 Wiley Periodicals, Inc.

Follistatin-like 1 expression is decreased in the alveolar epithelium of hypoplastic rat lungs with nitrofen-induced congenital diaphragmatic hernia.

PubMed

Takahashi, Toshiaki; Zimmer, Julia; Friedmacher, Florian; Puri, Prem

2017-05-01

Pulmonary hypoplasia (PH), characterized by incomplete alveolar development, remains a major therapeutic challenge associated with congenital diaphragmatic hernia (CDH). Follistatin-like 1 (Fstl1) is a crucial regulator of alveolar formation and maturation, which is strongly expressed in distal airway epithelium. Fstl1-deficient mice exhibit reduced airspaces, impaired alveolar epithelial cell differentiation, and insufficient production of surfactant proteins similar to PH in human CDH. We hypothesized that pulmonary Fstl1 expression is decreased during alveolarization in the nitrofen-induced CDH model. Timed-pregnant rats received nitrofen or vehicle on gestational day 9 (D9). Fetal lungs were harvested on D18 and D21 and divided into control-/nitrofen-exposed specimens. Alveolarization was assessed using morphometric analysis techniques. Pulmonary gene expression of Fstl1 was determined by qRT-PCR. Immunofluorescence-double-staining for Fstl1 and alveolar epithelial marker surfactant protein C (SP-C) was performed to evaluate protein expression/localization. Radial alveolar count was significantly reduced in hypoplastic lungs of nitrofen-exposed fetuses with significant down regulation of Fstl1 mRNA expression on D18 and D21 compared to controls. Confocal-laser-scanning-microscopy revealed strikingly diminished Fstl1 immunofluorescence and SP-C expression in distal alveolar epithelium of nitrofen-exposed fetuses with CDH-associated PH on D18 and D21 compared to controls. Decreased expression of Fstl1 in alveolar epithelium may disrupt alveolarization and pulmonary surfactant production, thus contributing to the development of PH in the nitrofen-induced CDH model. 2b (Centre for Evidence-Based Medicine, Oxford). Copyright © 2017 Elsevier Inc. All rights reserved.

Suppressed erythropoietin expression in a nitrofen-induced congenital diaphragmatic hernia.

PubMed

Takayasu, Hajime; Hagiwara, Koki; Masumoto, Kouji

2017-05-01

Erythropoietin (EPO), an essential stimulator of erythropoiesis produced by the fetal liver, is important both in vascular remodeling and modulation of the endothelial response in the pulmonary vasculature. In addition, EPO guides alveolar development, along with retinoic acid (RA). EPO is a direct target of RA, and the retinoid pathway is altered in the nitrofen-induced congenital diaphragmatic hernia (CDH) model. In the present study, we tested the hypothesis that the synthesis of EPO is suppressed in a rat model of CDH. Pregnant rats were treated with either nitrofen or vehicle on gestational day 9 (D9). Fetuses were sacrificed on D19 and D21 and divided into control and CDH groups. Immunohistochemistry and quantitative real-time polymerase chain reaction (RT-PCR) were performed to determine the expression of EPO in the fetal liver and kidney. We also estimated the expression of EPO receptor in the fetal lung. The relative EPO mRNA expression in the liver on D19 and in the kidney on D21 were significantly lower in the CDH group than in the controls (P = 0.0008 and P = 0.0064, respectively). In addition, the results of immunohistochemistry supported the findings from the RT-PCR analysis. No significant changes were noted in the expression pattern or EPO receptor levels in the fetal lungs of the CDH group compared to the controls. Our results reveal the suppressed EPO synthesis in the CDH fetus, which may contribute to the pathogenesis of lung hypoplasia and modification of pulmonary vasculature in the CDH rat model. Pediatr Pulmonol. 2017;52:606-615. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Nitrofen increases total retinol levels in placenta during lung morphogenesis in the nitrofen model of congenital diaphragmatic hernia.

PubMed

Kutasy, Balazs; Pes, Lara; Friedmacher, Florian; Paradisi, Francesca; Puri, Prem

2014-10-01

It has been shown that pulmonary retinol level is decreased during lung morphogenesis in the nitrofen-induced PH in congenital diaphragmatic hernia (CDH). Placenta has a major role in the retinol homeostasis in fetal life. Since there is no fetal retinol synthesis, maternal retinol has to cross the placenta. Placenta is the main fetal retinol store where retinol is stored in retinyl-ester formation. Trophoblasts have to produce its own retinol-binding protein (RBP) for retinol transport from placenta to fetus. Recently, we demonstrated that trophoblastic RBP expression is decreased in the nitrofen model of CDH. The aim of this study was to investigate the retinol transfer from mother to the placenta in nitrofen model of CDH. Pregnant rats were exposed to either olive oil or nitrofen on day 9 of gestation (D9). Fetal placenta harvested on D21 and divided into two groups: control (n = 11) and nitrofen with CDH (n = 11). Retinoid levels in placenta were measured using HPLC. Immunohistochemistry was performed to evaluate trophoblastic expression of main RSP genes. Total retinol levels in the placenta were significantly increased in CDH placenta compared to control placenta. The retinyl-ester levels were significantly increased in CDH placenta compared to control placenta. Markedly, decreased immunoreactivity of retinoid signaling pathway was observed in trophoblast cells in CDH compared to control placenta. Increased placental retinol levels show that retinol is transferred from mother to placenta and stored in the placenta in nitrofen model of CDH during lung morphogenesis. Nitrofen may disturb the mobilization of retinol from placenta to fetal circulation causing PH in CDH.

Prevention of pulmonary hypoplasia and pulmonary vascular remodeling by antenatal simvastatin treatment in nitrofen-induced congenital diaphragmatic hernia.

PubMed

Makanga, Martine; Maruyama, Hidekazu; Dewachter, Celine; Da Costa, Agnès Mendes; Hupkens, Emeline; de Medina, Geoffrey; Naeije, Robert; Dewachter, Laurence

2015-04-01

Congenital diaphragmatic hernia (CDH) has a high mortality rate mainly due to lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). Simvastatin has been shown to prevent the development of pulmonary hypertension (PH) in experimental models of PH. We, therefore, hypothesized that antenatal simvastatin would attenuate PPHN in nitrofen-induced CDH in rats. The efficacy of antenatal simvastatin was compared with antenatal sildenafil, which has already been shown to improve pathological features of PPHN in nitrofen-induced CDH. On embryonic day (E) 9.5, nitrofen or vehicle was administered to pregnant Sprague-Dawley rats. On E11, nitrofen-treated rats were randomly assigned to antenatal simvastatin (20 mg·kg(-1)·day(-1) orally), antenatal sildenafil (100 mg·kg(-1)·day(-1) orally), or placebo administration from E11 to E21. On E21, fetuses were delivered by cesarean section, killed, and checked for left-sided CDH. Lung tissue was then harvested for further pathobiological evaluation. In nitrofen-induced CDH, simvastatin failed to reduce the incidence of nitrofen-induced CDH in the offspring and to increase the body weight, but improved the lung-to-body weight ratio and lung parenchyma structure. Antenatal simvastatin restored the pulmonary vessel density and external diameter, and reduced the pulmonary arteriolar remodeling compared with nitrofen-induced CDH. This was associated with decreased lung expression of endothelin precursor, endothelin type A and B receptors, endothelial and inducible nitric oxide synthase, together with restored lung activation of apoptotic processes mainly in the epithelium. Antenatal simvastatin presented similar effects as antenatal therapy with sildenafil on nitrofen-induced CDH. Antenatal simvastatin improves pathological features of lung hypoplasia and PPHN in experimental nitrofen-induced CDH. Copyright © 2015 the American Physiological Society.

Prenatal microRNA miR-200b Therapy Improves Nitrofen-induced Pulmonary Hypoplasia Associated With Congenital Diaphragmatic Hernia.

PubMed

Khoshgoo, Naghmeh; Kholdebarin, Ramin; Pereira-Terra, Patricia; Mahood, Thomas H; Falk, Landon; Day, Chelsea A; Iwasiow, Barbara M; Zhu, Fuqin; Mulhall, Drew; Fraser, Carly; Correia-Pinto, Jorge; Keijzer, Richard

2017-11-13

We aimed to evaluate the use of miR-200b as a prenatal transplacental therapy in the nitrofen rat model of abnormal lung development and congenital diaphragmatic hernia (CDH). Pulmonary hypoplasia (PH) and pulmonary hypertension determine mortality and morbidity in CDH babies. There is no safe medical prenatal treatment available. We previously discovered that higher miR-200b is associated with better survival in CDH babies. Here, we investigate the role of miR-200b in the nitrofen rat model of PH and CDH and evaluate its use as an in vivo prenatal therapy. We profiled miR-200b expression during nitrofen-induced PH using RT-qPCR and in situ hybridization in the nitrofen rat model of PH and CDH. The effects of nitrofen on downstream miR-200b targets were studied in bronchial lung epithelial cells using a SMAD luciferase assay, Western blotting and Immunohistochemistry. We evaluated miR-200b as a lung growth promoting therapy ex vivo and in vivo using lung explant culture and transplacental prenatal therapy in the nitrofen rat model. We show that late lung hypoplasia in CDH is associated with (compensatory) upregulation of miR-200b in less hypoplastic lungs. Increasing miR-200b abundance with mimics early after nitrofen treatment decreases SMAD-driven TGF-β signaling and rescues lung hypoplasia both in vitro and in vivo. Also, prenatal miR-200b therapy decreases the observed incidence of CDH. Our data indicate that miR-200b improves PH and decreases the incidence of CDH. Future studies will further exploit this newly discovered prenatal therapy for lung hypoplasia and CDH.

Increased pulmonary RhoA expression in the nitrofen-induced congenital diaphragmatic hernia rat model.

PubMed

Takayasu, Hajime; Masumoto, Kouji; Hagiwara, Koki; Sasaki, Takato; Ono, Kentaro; Jimbo, Takahiro; Uesugi, Toru; Gotoh, Chikashi; Urita, Yasuhisa; Shinkai, Toko; Tanaka, Hideaki

2015-09-01

Persistent pulmonary hypertension remains a major cause of mortality and morbidity in cases of congenital diaphragmatic hernia (CDH). Recently, RhoA/Rho-kinase-mediated vasoconstriction has been reported to be important in the pathogenesis of pulmonary hypertension (PH). Several recent reports have described that fasudil, a potent Rho-kinase inhibitor and vasodilator, could represent a potential therapeutic option for PH. We designed this study to investigate the hypothesis that the expression level of RhoA is increased in the nitrofen-induced CDH rat model. The expression level of Wnt11, an activator of RhoA, was also evaluated. Pregnant rats were treated with or without nitrofen on gestational day 9 (D9). Fetuses were sacrificed on D17, D19 and D21 and were divided into control and CDH groups. Quantitative real-time polymerase chain reaction was performed to determine the pulmonary gene expression levels of both Wnt11 and RhoA. An immunofluorescence study was also performed to evaluate the expression and localization of RhoA. The relative mRNA expression levels of pulmonary Wnt11 and RhoA on D21 were significantly increased in the CDH group compared with the control group (p=0.016 and p=0.008, respectively). The immunofluorescence study confirmed the overexpression of RhoA in the pulmonary vessels of CDH rats on D21. Our results provide evidence that the RhoA/Rho-kinase-mediated pathway is involved in the pathogenesis of PH in the nitrofen-induced CDH rat model. Our data also suggest that the fasudil, a Rho-kinase inhibitor, could represent a therapeutic option for the treatment of PH in CDH. Copyright © 2015 Elsevier Inc. All rights reserved.

Prevention of pulmonary hypoplasia and pulmonary vascular remodeling by antenatal simvastatin treatment in nitrofen-induced congenital diaphragmatic hernia

PubMed Central

Makanga, Martine; Maruyama, Hidekazu; Dewachter, Celine; Da Costa, Agnès Mendes; Hupkens, Emeline; de Medina, Geoffrey; Naeije, Robert

2015-01-01

Congenital diaphragmatic hernia (CDH) has a high mortality rate mainly due to lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). Simvastatin has been shown to prevent the development of pulmonary hypertension (PH) in experimental models of PH. We, therefore, hypothesized that antenatal simvastatin would attenuate PPHN in nitrofen-induced CDH in rats. The efficacy of antenatal simvastatin was compared with antenatal sildenafil, which has already been shown to improve pathological features of PPHN in nitrofen-induced CDH. On embryonic day (E) 9.5, nitrofen or vehicle was administered to pregnant Sprague-Dawley rats. On E11, nitrofen-treated rats were randomly assigned to antenatal simvastatin (20 mg·kg−1·day−1 orally), antenatal sildenafil (100 mg·kg−1·day−1 orally), or placebo administration from E11 to E21. On E21, fetuses were delivered by cesarean section, killed, and checked for left-sided CDH. Lung tissue was then harvested for further pathobiological evaluation. In nitrofen-induced CDH, simvastatin failed to reduce the incidence of nitrofen-induced CDH in the offspring and to increase the body weight, but improved the lung-to-body weight ratio and lung parenchyma structure. Antenatal simvastatin restored the pulmonary vessel density and external diameter, and reduced the pulmonary arteriolar remodeling compared with nitrofen-induced CDH. This was associated with decreased lung expression of endothelin precursor, endothelin type A and B receptors, endothelial and inducible nitric oxide synthase, together with restored lung activation of apoptotic processes mainly in the epithelium. Antenatal simvastatin presented similar effects as antenatal therapy with sildenafil on nitrofen-induced CDH. Antenatal simvastatin improves pathological features of lung hypoplasia and PPHN in experimental nitrofen-induced CDH. PMID:25617377

The "Flat Diaphragm": Does the Degree of Curvature of the Diaphragm on Postoperative X-Ray Predict Congenital Diaphragmatic Hernia Recurrence?

PubMed

Short, Heather L; Clifton, Matthew S; Arps, Kelly; Travers, Curtis; Loewen, Jonathan; Schlager, Avraham

2018-04-01

The appearance of the diaphragmatic curvature and the rib insertion level of the diaphragm on postoperative chest X-ray (CXR) may predict recurrence. Our purpose was to examine the relationship between the curvature of the diaphragm on postoperative CXR and recurrence. We performed a retrospective review of left-sided, Bochdalek congenital diaphragmatic hernia (CDH) surgical repairs from 2004 to 2015 at a single institution. We developed a tool to measure the flatness of the diaphragm on postoperative CXR, termed the diaphragmatic curvature index (τ). The primary outcome of interest was recurrence after surgical repair. Of the 127 patients identified, 54% (n = 69) had a primary repair, while 46% (n = 58) required a patch repair. The overall recurrence rate was 21.3% (n = 27). There was no difference in median lateral rib insertion level in patients with and without recurrence or those who had a primary or patch repair. The overall median diaphragmatic curvature index was 6.29 (interquartile range [IQR] 5.30-8.09) and was not significantly different among patients who had a recurrence (6.00, IQR 5.34-8.24) and those who did not (6.46, IQR 5.24-8.07) (P = .853). Within the primary repair group (6.34 versus 6.93, P = .84) and the patch repair group (5.59 versus 6.18, P = .46), the median diaphragmatic curvature index was not different among patients who had a recurrence and those who did not. A flat appearance of the diaphragm on postoperative CXR as measured by the median diaphragmatic curvature index (τ) is not associated with recurrence. The shape of the diaphragm on CXR after CDH repair may not be predictive of recurrence as previously thought.

Evaluation of Neonatal Lung Volume Growth by Pulmonary Magnetic Resonance Imaging in Patients with Congenital Diaphragmatic Hernia.

PubMed

Schopper, Melissa A; Walkup, Laura L; Tkach, Jean A; Higano, Nara S; Lim, Foong Yen; Haberman, Beth; Woods, Jason C; Kingma, Paul S

2017-09-01

To evaluate postnatal lung volume in infants with congenital diaphragmatic hernia (CDH) and determine if a compensatory increase in lung volume occurs during the postnatal period. Using a novel pulmonary magnetic resonance imaging method for imaging neonatal lungs, the postnatal lung volumes in infants with CDH were determined and compared with prenatal lung volumes obtained via late gestation magnetic resonance imaging. Infants with left-sided CDH (2 mild, 9 moderate, and 1 severe) were evaluated. The total lung volume increased in all infants, with the contralateral lung increasing faster than the ipsilateral lung (mean ± SD: 4.9 ± 3.0 mL/week vs 3.4 ± 2.1 mL/week, P = .005). In contrast to prenatal studies, the volume of lungs of infants with more severe CDH grew faster than the lungs of infants with more mild CDH (Spearman's ρ=-0.086, P = .01). Although the contralateral lung volume grew faster in both mild and moderate groups, the majority of total lung volume growth in moderate CDH came from increased volume of the ipsilateral lung (42% of total lung volume increase in the moderate group vs 32% of total lung volume increase in the mild group, P = .09). Analysis of multiple clinical variables suggests that increased weight gain was associated with increased compensatory ipsilateral lung volume growth (ρ = 0.57, P = .05). These results suggest a potential for postnatal catch-up growth in infants with pulmonary hypoplasia and suggest that weight gain may increase the volume growth of the more severely affected lung. Copyright © 2017 Elsevier Inc. All rights reserved.

Congenital diaphragmatic hernia: a modern day approach.

PubMed

Waag, Karl-Ludwig; Loff, Steffan; Zahn, Katrin; Ali, Mansour; Hien, Steffen; Kratz, Markus; Neff, Wolfgang; Schaffelder, Regine; Schaible, Thomas

2008-11-01

Centralization of all complicated congenital diaphragmatic hernias (CDH) was organized in Germany from 1998, collecting 325 consecutive patients with striking increasing survival rates. This series report 244 patients from 2002 to 2007. Today, large defects are detected early in pregnancy by ultrasound and magnetic resonance imaging (MRI). In extracorporeal membrane oxygenation (ECMO) patients, prenatal lung head ratio (LHR) was 1.2 (median) at the 34th week of gestation or less than 25 ml lung tissue in MRI. This means that all patients below LHR of 1.4 should be transferred prenatally in a tertiary center. High risk group for survival was defined as LHR below 0.9, ie, 10 ml in MRI planimetry. Inborn patients show better results than outborns. In algorithm therapy, gentle ventilation plays an important role in preventing damage to the lung tissue and avoiding long term ventilation. When PaCO(2) was more than 75 mmHg, ventilation was changed to high frequency oscillatory ventilation (HFOV). Indication for ECMO was seen in preductal PaO(2) less than 50 mmHg over 2-4 h or less than 40 mmHg over 2 h. ECMO related risks included intracerebral bleeding (9%), intrapulmonary bleeding (14%), and convulsions (16%). Surgically, a longitudinal midline incision for exposure of the defect, the duodenal kinking, and probably for abdominal patching was perfect. A cone formed goretex patch provided more abdominal space and reduced abundant intrathoracical cavity. No drain was used. Postoperative complications were described. Overall survival in 244 consecutive patients was 86.5% for all patients born alive. All those who needed ECMO survived in 71%, underlining ECMO as a treatment of last choice. Follow-up for quality of life after CDH is described.

Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics.

PubMed

Kantarci, Sibel; Donahoe, Patricia K

2007-05-15

Congenital diaphragmatic hernia (CDH) is a common birth defect with high mortality and morbidity. Two hundred seventy CDH patients were ascertained, carefully phenotyped, and classified as isolated (diaphragm defects alone) or complex (with additional anomalies) cases. We established different strategies to reveal CDH-critical chromosome loci and genes in humans. Candidate genes for sequencing analyses were selected from CDH animal models, genetic intervals of recurrent chromosomal aberration in humans, such as 15q26.1-q26.2 or 1q41-q42.12, as well as genes in the retinoic acid and related pathways and those known to be involved in embryonic lung development. For instance, FOG2, GATA4, and COUP-TFII are all needed for both normal diaphragm and lung development and are likely all in the same genetic and molecular pathway. Linkage analysis was applied first in a large inbred family and then in four multiplex families with Donnai-Barrow syndrome (DBS) associated with CDH. 10K SNP chip and microsatellite markers revealed a DBS locus on chromosome 2q23.3-q31.1. We applied array-based comparative genomic hybridization (aCGH) techniques to over 30, mostly complex, CDH patients and found a de novo microdeletion in a patient with Fryns syndrome related to CDH. Fluorescence in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) techniques allowed us to further define the deletion interval. Our aim is to identify genetic intervals and, in those, to prioritize genes that might reveal molecular pathways, mutations in any step of which, might contribute to the same phenotype. More important, the elucidation of pathways may ultimately provide clues to treatment strategies. (c) 2007 Wiley-Liss, Inc.

BMP4 and LGL1 are Down Regulated in an Ovine Model of Congenital Diaphragmatic Hernia

PubMed Central

Emmerton-Coughlin, Heather M. A.; Martin, K. Kathryn; Chiu, Jacky S. S.; Zhao, Lin; Scott, Leslie A.; Regnault, Timothy R. H.; Bütter, Andreana

2014-01-01

Background/Purpose: The molecular pathophysiology of lung hypoplasia in congenital diaphragmatic hernia (CDH) remains poorly understood. The Wnt signaling pathway and downstream targets, such as bone morphogenetic proteins (BMP) 4 and other factors such as late gestation lung protein 1 (LGL1), are essential to normal lung development. Nitrofen-induced hypoplastic CDH rodent lungs demonstrate down regulation of the Wnt pathway including BMP4 and reduced LGL1 expression. The aim of the current study was to examine the molecular pathophysiology associated with a surgically induced CDH in an ovine model. Methods: Left thoracotomy was performed at 80 days in 14 fetal sheep; CDH was created in seven experimental animals. Lungs were harvested at 136 days (term = 145 days). Lung weight (LW) and mean terminal bronchiole density (MTBD) were measured to determine the degree of pulmonary hypoplasia. Quantitative real time PCR was undertaken to analyze Wnt2, Wnt7b, BMP4, and LGL1 mRNA expression. Results: Total LW was decreased while MTBD was increased in the CDH group (p < 0.05), confirming pulmonary hypoplasia. BMP4 and LGL1 mRNA was significantly reduced in CDH lungs (p < 0.05). Wnt2 mRNA was decreased, although not significantly (p < 0.06). Conclusion: For the first time, down regulation of BMP4 and LGL1 are reported in an ovine CDH model. In contrast to other animal models, these changes are persistent to near term. These findings suggest that mechanical compression from herniated viscera may play a more important role in causing pulmonary hypoplasia in CDH, rather than a primary defect in lung organogenesis. PMID:25593968

Predictive capabilities of preoperative and postoperative pulmonary function tests in delayed repair of congenital diaphragmatic hernia.

PubMed

Tracy, T F; Bailey, P V; Sadiq, F; Noguchi, A; Silen, M L; Weber, T R

1994-02-01

To improve the survival of newborns with congenital diaphragmatic hernia (CHD), preoperative stabilization with conventional ventilatory therapy and extracorporeal membrane oxygenation (ECMO) have been used. Measurements that quantify pulmonary function may allow an accurate assessment of lethal pulmonary hypoplasia and predict outcome. Pulmonary function tests (PFTs) were obtained in 20 infants preoperatively and postoperatively; these included measurements of compliance, dynamic compliance, and tidal volume. Overall survival was 75%. Six surviving infants were initially managed with ventilator therapy alone, followed by repair (group 1). The remaining 14 patients, who were moribund at presentation or whose initial ventilator therapy failed, were placed on ECMO and received repair during bypass; nine survived (group 2), and five died (group 3). Compliance, dynamic compliance, and tidal volume obtained at initial presentation and immediately preoperatively were significantly higher for group 1 as compared with groups 2 and 3. Infants whose initial compliance was greater than 0.25 mL/cm H2O/kg and initial tidal volume was greater than 3.5 mL/kg did not require ECMO. Ultimate improvement in compliance was noted in 5 of 6 patients in group 1, 8 of 8 patients in group 2, and 5 of 5 in group 3. This improvement followed an initial decline in compliance in 9 of 14 survivors, from 15% to 76%. All six patients in group 1 had tidal volumes of more than 4 mL/kg, as did 7 of 9 patients in group 2. Only one patient among the ECMO nonsurvivors (group 3) had a postoperative tidal volume of this magnitude. These data suggest that initial PFTs may predict which infants will require ECMO.(ABSTRACT TRUNCATED AT 250 WORDS)

Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: a new syndrome or Fryns "anophthalmia-plus" syndrome?

PubMed

Ozçelik, Derya; Sağlam, Ibrahim; SIlan, Fatma; Sezen, Gülbin; Unveren, Toygar

2008-05-01

We report that a 4-year-old boy presented with right unilateral complete cleft lip and palate, right anophthalmos, left congenital nystagmus, absence of the vomer bone, mental-motor retardation, and normal lymphocyte karyotype (46, XY). For reconstruction of the deformities, we performed cleft lip repair by Millard's rotation-advancement technique and planned cleft palate repair. This combination of cleft lip and palate, anophthalmos, congenital nystagmus, absent vomer bone, and mental-motor retardation has not, to our knowledge, previously been described. We suggest that this represents either another case of the rare Fryns "anophthalmia-plus" syndrome or a new syndrome.

Cataract in a patient with 47,XYY sex chromosome aneuploidy.

PubMed

Medina-Andrade, A; Villanueva-Mendoza, C; Arenas, S; Cortés-González, V

2018-06-01

The case concerns a 16 year-old boy with a history of high myopia and unilateral congenital cataract, tall stature for age, facial dysmorphism, hypermobile metacarpal-phalangeal joints, as well as behavioural problems. The mother had a history of recurrent pregnancy loss. Chromosomal analysis of the peripheral blood lymphocytes reported 47,XYY. Patients with sex chromosome aneuploidy 47,XYY have higher risk of congenital malformations, although ophthalmological anomalies are unusual. Evaluation of patients with tall stature and behavioural problems should include a chromosomal analysis in order to determine the aetiology. Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

Results of a prospective surgical audit of bilateral paediatric cochlear implantation in the UK.

PubMed

Broomfield, Stephen J; Murphy, John; Wild, Dominik C; Emmett, Stevan R; O'Donoghue, Gerard M

2014-09-01

Since being approved in 2009, bilateral simultaneous cochlear implantation (CI) has been the standard treatment for children in the UK who meet the criteria for CI. The aim was to report surgical outcomes of bilateral CI in the UK. Between January 2010 and December 2011, 14 UK CI centres collected data prospectively: demographics, aetiology, use of imaging, device type, surgery duration, use of intra-operative electrophysiology, length of stay, and post-operative complications. 1397 CI procedures in 961 CI recipients were included; 436 bilateral simultaneous, 394 bilateral sequential, and 131 unilateral. The majority (85%) were congenitally deaf. The commonest causes of acquired deafness were meningitis and cytomegalovirus infection. The median age for congenitally deaf bilateral simultaneous CI was 2.2 years, mean surgical duration 4.5 hours. 6.3% surgeries were day case procedures. Eight cases (2.0%) of planned bilateral CI had unilateral surgery. The overall major complication rate was 1.6% (0.9% excluding device failures), including explantation due to infection (0.2%), cerebrospinal fluid leak (0.2%), and meningitis (0.1%). There were no permanent facial nerve palsies and no deaths. Sixty-two (6.5%) immediate minor complications included 12 (1.3%) children with significant vestibular impairment. The complication rate was similar following bilateral CI compared to sequential and unilateral CI, and is comparable to other published series. This prospective multi-centre audit provides evidence that bilateral paediatric CI is a safe procedure in the UK, thus endorsing its role as a major therapeutic intervention in childhood deafness.

Visual outcome and impact on quality of life after surgeries differ in children operated for unilateral and bilateral cataract (Pune study 2011)

PubMed Central

Paryani, Mukesh; Khandekar, Rajiv B.; Dole, Kuldeep; Dharmadhikari, Sheetal; Rishikeshi, Nikhil

2012-01-01

Background: We compared vision and quality of life (VQL) of children aged 5-15 years and operated for unilateral and bilateral cataract between 2008 and 2010 in western India. Materials and Methods: In this cohort study, ophthalmologists assessed vision, anterior and posterior segment of eyes with cataract. Children completed a functional vision questionnaire (LVP-FVQ). Follow up at 6 months after surgery included the best corrected visual acuity (BCVA), FVQ and eye assessment. The improvement of BCVA and quality of life were compared in group of unilateral and bilateral cataract. Result: A total of 20 (70%) bilateral and 7 (39%) unilateral cataract were operated within 1 month of detection. All 48 eyes with bilateral cataract were congenital and 12 (67%) unilateral cataract were traumatic. Among bilateral group, 27 eyes [56.2% (95% confidence interval (CI) 44.4-72.2)] and in unilateral group 11 eyes [61.1% (95% CI 38.6-83.6)] had vision ≥ 20/60 at 6 months follow up. The visual gain was significantly higher in children who were operated between 1 month and 1 year of detection (adjusted Odds ratio (OR) = 15.6 P = 0.03). Positive impact on VQL in bilateral group was noted in 50%, 27%, and 13% children for subscale of distant vision, near vision, and field of vision, respectively. There was positive impact in these subscales among children with unilateral cataract. Thirty percent eyes with bilateral cataract and 22% of eyes with unilateral cataract improved their vision. Surgery within 1 month of cataract was significant predictor of improved vision (OR = 16.6 P = 0.02). Conclusion: Vision and VQL improved in children with unilateral and bilateral cataract. However, it was better 6 months following surgery in children with bilateral cataract than in children with unilateral cataract. PMID:23439722

Does surgeon volume matter in the outcome of endoscopic inguinal hernia repair?

PubMed

Köckerling, F; Bittner, R; Kraft, B; Hukauf, M; Kuthe, A; Schug-Pass, C

2017-02-01

For open and endoscopic inguinal hernia surgery, it has been demonstrated that low-volume surgeons with fewer than 25 and 30 procedures, respectively, per year are associated with significantly more recurrences than high-volume surgeons with 25 and 30 or more procedures, respectively, per year. This paper now explores the relationship between the caseload and the outcome based on the data from the Herniamed Registry. The prospective data of patients in the Herniamed Registry were analyzed using the inclusion criteria minimum age of 16 years, male patient, primary unilateral inguinal hernia, TEP or TAPP techniques and availability of data on 1-year follow-up. In total, 16,290 patients were enrolled between September 1, 2009, and February 1, 2014. Of the participating surgeons, 466 (87.6 %) had carried out fewer than 25 endoscopic/laparoscopic operations (low-volume surgeons) and 66 (12.4 %) surgeons 25 or more operations (high-volume surgeons) per year. Univariable (1.03 vs. 0.73 %; p = 0.047) and multivariable analysis [OR 1.494 (1.065-2.115); p = 0.023] revealed that low-volume surgeons had a significantly higher recurrence rate compared with the high-volume surgeons, although that difference was small. Multivariable analysis also showed that pain on exertion was negatively affected by a lower caseload <25 [OR 1.191 (1.062-1.337); p = 0.003]. While here, too, the difference was small, the fact that in that group there was a greater proportion of patients with small hernia defect sizes may have also played a role since the risk in that group was higher. In this analysis, no evidence was found that pain at rest [OR 1.052 (0.903-1.226); p = 0.516] or chronic pain requiring treatment [OR 1.108 (0.903-1.361); p = 0.326] were influenced by the surgeon volume. As confirmed by previously published studies, the data in the Herniamed Registry also demonstrated that the endoscopic/laparoscopic inguinal hernia surgery caseload impacted the outcome. However, given the overall high-quality level the differences between a "low-volume" surgeon and a "high-volume" surgeon were small. That was due to the use of a standardized technique, structured training as well as continuous supervision of trainees and surgeons with low annual caseload.

Magnetic resonance imaging in congenital Brown syndrome.

PubMed

Kim, Jae Hyoung; Hwang, Jeong-Min

2015-08-01

Our aim was to elucidate the etiology of Brown syndrome by evaluating the trochlea position, morphologic characteristics of the extraocular muscles including superior oblique muscle/tendon complex, and the presence of the cranial nerves (CN) III, IV, and VI using magnetic resonance imaging (MRI) in eight patients with unilateral congenital Brown syndrome and one patient with bilateral congenital Brown syndrome. Nine consecutive patients diagnosed with congenital Brown syndrome had a comprehensive ocular examination and MRI for the CN III, CN VI, and the extraocular muscles. Five of the nine patients underwent additional high resolution MRI for CN IV. The distance from the annulus of Zinn to the trochlea was measured. Normal sized CN III, IV, and VI, as well as all extraocular muscles, could be identified bilaterally in all patients with available MRI. The distance from the annulus of Zinn to the trochlea was the same in both eyes. The findings for our patients, particularly in those who underwent additional high resolution MRI, did not provide evidence of a lack of CN IV as a cause of Brown syndrome.

Prevalence of dental anomalies in children with cleft lip and unilateral and bilateral cleft lip and palate.

PubMed

Rullo, R; Festa, V M; Rullo, R; Addabbo, F; Chiodini, P; Vitale, M; Perillo, L

2015-09-01

To examine the prevalence of different types of dental anomalies in children with nonsyndromic cleft lip, unilateral cleft lip-palate, and bilateral cleft lip-palate. A sample of 90 patients (aged 4-20 years) affected by isolated cleft lip, unilateral and bilateral cleft lip and palate was examined. Cleft patients were classified into one of three groups according to cleft type: (1) Unilateral Cleft Lip-Palate, (2) Bilateral Cleft Lip-Palate, and (3) Cleft Lip. Intraoral exams, panoramic radiographs and dental casts, were used to analyse the prevalence of the various dental anomalies included in this study. There were no statistically significant differences between patients with cleft lip, unilateral cleft lip and palate and bilateral cleft lip and palate. The congenital absence of the cleft-side lateral incisor was observed in 40% of the sample, and a total of 30% patients showed supernumerary teeth at the incisors region. Second premolar agenesis was found in 4.4% of patients, whereas in 18.9% of the sample there was an ectopic dental eruption. Lateral or central incisors rotation was noted in 31.1% of the sample, while shape anomaly, lateral incisor microdontia, and enamel hypoplasia were detected respectively in 25.6%, 5.6% and 18.9% of cleft patients. High prevalence of different dental anomalies in children with cleft lip and unilateral and bilateral cleft lip and palate has been confirmed. This study, in particular, shows the presence of ectopic and rotated teeth in the cleft area.

A survey of overuse problems in patients with acquired or congenital upper limb deficiency.

PubMed

Burger, Helena; Vidmar, Gaj

2016-08-01

Little is known about secondary impairments and overuse problems in patient with acquired or congenital upper limb deficiency. Our aim was to estimate the frequency of overuse problems in persons after unilateral upper limb deficiency and identify the factors relevant for development of these problems. Cross-sectional study conducted at the University Rehabilitation Institute in Ljubljana. In total, 65 persons after unilateral upper limb deficiency who had visited our subspecialist outpatient clinic during the 2011-2013 period (excluding those with other possible medical causes of overuse-type problems) were interviewed about the frequency, duration and severity of neck, elbow and shoulder pain and the presence of carpal tunnel syndrome and filled in the Orthotics and Prosthetics User Survey-Upper Extremity Functional Status questionnaire. The most frequent problem was carpal tunnel syndrome, followed by shoulder pain, neck pain and elbow pain. No statistically significant association of deficiency level, cause of deficiency, time since deficiency, extent of daily prosthesis use or type of prosthesis with frequency or severity of pain or number of problems was found. The presence of carpal tunnel syndrome decreased from wearing no prosthesis through aesthetic and body-powered to myoelectric prosthesis (p = 0.014). Factors contributing to overuse problems after upper limb deficiency are not straightforward, so a large multicentric study is warranted. Persons with acquired or congenital upper limb deficiency are under a heightened risk of developing overuse problems but the contributing factors are not clear, so regular individual follow-up is required. © The International Society for Prosthetics and Orthotics 2015.

Chromosome evaluation of Angus calves with unilateral congenital cleft lip and jaw (cheilognathoschisis).

PubMed

Swartz, H A; Vogt, D W; Kintner, L D

1982-04-01

Two purebred Angus calves with unilateral cleft lip and jaw were karyotyped and anatomically described. Both calves, 1 male and 1 female, were from the same farm and were born in March and April 1980. The defect was most pronounced in the female calf. Both calves exhibited an elevated midline of the hard palate. The female calf also manifested characteristics indicative of proportionate dwarfism. Karyotypes were constructed after a 72-hour culture of peripheral blood. The 2N number was 60 with no apparent chromosome abnormality. The coefficient of relationship between the 2 affected calves was calculated to be 0.78%. The cause of the defect could not be ascertained from the limited data available.

Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum

PubMed Central

John, Jomol Sara; Vanitha, R.

2013-01-01

Moebius syndrome is a rare congenital neurological disorder. The most frequent mode of presentation is facial diplegia with bilateral lateral rectus palsy, but there are variations. Here, we report a rare case of Moebius syndrome in a 15-month-old child with unilateral facial palsy, bilateral abducens nerve palsy with Dandy Walker variant, and complete agenesis of corpus callosum. PMID:24470815

Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery.

PubMed

Piro, Ettore; Piccione, Maria; Marrone, Gianluca; Giuffrè, Mario; Corsello, Giovanni

2013-05-14

Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized and have been described, mainly in late childhood, adolescence and adult ages. We describe a female infant with prenatal diagnosis of unilateral left ventriculomegaly in which early brain MRI and contrast enhanced-MRI angiography, showed cerebral left hemiatrophy associated with reduced caliber of the left middle cerebral artery revealing the characteristic findings of the Dyke-Davidoff-Masson syndrome. Prenatal imaging, cerebral vascular anomaly responsible for the cerebral hemiatrophy and the early clinical evolution have never been described before in such a young child and complete the acquired clinical descriptions in older children. Differential diagnosis, genetic investigations, neurophysiologic assessments, short term clinical and developmental follow up are described. Dyke-Davidoff-Masson syndrome must be ruled out in differential diagnosis of fetal unilateral ventriculomegaly. Early clinical assessment, differential diagnosis and cerebral imaging including cerebral MRI angiography allow the clinicians to diagnose also in early infancy this rare condition.

Challenging embryological theories on congenital diaphragmatic hernia: future therapeutic implications for paediatric surgery.

PubMed Central

Jesudason, E. C.

2002-01-01

Lung hypoplasia is central to the poor prognosis of babies with congenital diaphragmatic hernia (CDH). Prolapse of abdominal organs through a diaphragmatic defect has traditionally been thought to impair lung growth by compression. The precise developmental biology of CDH remains unresolved. Refractory to fetal correction, lung hypoplasia in CDH may instead originate during embryogenesis and before visceral herniation. Resolving these conflicting hypotheses may lead to reappraisal of current clinical strategies. Genetic studies in murine models and the fruitfly, Drosophila melanogaster are elucidating the control of normal respiratory organogenesis. Branchless and breathless are Drosophila mutants lacking fibroblast growth factor (FGF) and its cognate receptor (FGFR), respectively. Sugarless and sulphateless mutants lack enzymes essential for heparan sulphate (HS) biosynthesis. Phenotypically, all these mutants share abrogated airway branching. Mammalian organ culture and transgenic models confirm the essential interaction of FGFs and HS during airway ramification. Embryonic airway development (branching morphogenesis) occurs in a defined spatiotemporal sequence. Unlike the surgically-created lamb model, the nitrofen rat model permits investigation of embryonic lung growth in CDH. Microdissecting embryonic lung primordia from the nitrofen CDH model and normal controls, we demonstrated that disruption of stereotyped airway branching correlates with and precedes subsequent CDH formation. To examine disturbed branching morphogenesis longitudinally, we characterised a system that preserves lung hypoplasia in organ culture. We tested FGFs and heparin (an HS analogue) as potential therapies on normal and hypoplastic lungs. Observing striking differences in morphological response to FGFs between normal and hypoplastic lung primordia, we postulated abnormalities of FGF/HS signalling in the embryonic CDH lung. Evaluating this hypothesis further, we examined effects of an HS-independent growth factor (epidermal growth factor, EGF) on hypoplastic lung development. Visible differences in morphological response indicate an intrinsic abnormality of hypoplastic lung primordia that may involve shared targets of FGFs and EGE. These studies indicate that lung hypoplasia precedes diaphragmatic hernia and may involve disturbances of mitogenic signalling pathways fundamental to embryonic lung development. What does this imply for human CDH? Fetal surgery may be 'too little, too late' to correct an established lung embryopathy. In utero growth factor therapy may permit antenatal lung rescue. Prevention of the birth defect by preconceptual prophylaxis may represent the ultimate solution. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 6 PMID:12215028

Fetal Surgery

PubMed Central

Laberge, Jean-Martin

1986-01-01

Fetal surgery has come of age. For decades experimental fetal surgery proved essential in studying normal fetal physiology and development, and pathophysiology of congenital defects. Clinical fetal surgery started in the 1960s with intrauterine transfusions. In the 1970s, the advent of ultrasonography revolutionized fetal diagnosis and created a therapeutic vacuum. Fetal treatment, medical and surgical, is slowly trying to fill the gap. Most defects detected are best treated after birth, some requiring a modification in the time, mode and place of delivery for optimal obstetrical and neonatal care. Surgical intervention in utero should be considered for malformations that cause progressive damage to the fetus, leading to death or severe morbidity; that can be corrected or palliated in utero with a reasonable expectation of normal postnatal development; that cannot wait to be corrected after birth, even considering pre-term delivery; that are not accompanied by chromosomal or other major anomalies. At present, congenital hydronephrosis is the most common indication for fetal surgery, followed by obstructive hydrocephalus. Congenital diaphragmatic hernia also fulfills the criteria, but its correction poses more problems, and no clinical attempts have been reported so far. In the future many other malformations or diseases may become best treated in utero. The ethical and moral issues are complex and need to be discussed as clinical and experimental progress is made. PMID:21267309

The increasing incidence of foetal echogenic congenital lung malformations: an observational study.

PubMed

Stocker, Linden J; Wellesley, Diana G; Stanton, Michael P; Parasuraman, Rajeswari; Howe, David T

2015-02-01

The aim of this study was to investigate the incidence of congenital lung malformations over the past 19 years. Congenital lung malformations (CLM) are a heterogeneous group of lung abnormalities. The antenatal diagnosis is important for foetal and neonatal management but there have been no studies examining whether the reported incidence of this abnormality is constant. A retrospective cross-sectional study of cases identified from the Wessex Antenatally Detected Anomalies (WANDA) register 1994-2012. One hundred and thirty-three cases of CLM in 524 372 live and stillbirths were identified. All but seven were identified on antenatal ultrasound. During the early registry (1994-1998) the average incidence of CLM was 1.27 per 10,000 births. By the last 4 years (2008-2012) this had risen to 4.15 per 10,000 births, with a progressive increase during the intervening years. There was over a three-fold increase in the antenatally detected CLM in the Wessex region 1994-2012. Comparison with the antenatal detection of diaphragmatic hernia suggests that this is a true rise in incidence rather than an artefactual increase due to increased antenatal recognition secondary to improved ultrasound resolution and operator experience. These results have clinical and cost implications for practitioners of foetal medicine, neonatology and paediatric surgery services. © 2014 John Wiley & Sons, Ltd.

A comparative study to evaluate ultrasound-guided transversus abdominis plane block versus ilioinguinal iliohypogastric nerve block for post-operative analgesia in adult patients undergoing inguinal hernia repair.

PubMed

Kamal, Kirti; Jain, Parul; Bansal, Teena; Ahlawat, Geeta

2018-04-01

Both transversus abdominis plane (TAP) block and combined ilioinguinal-iliohypogastric (IIN/IHN) blocks are used routinely under ultrasound (USG) guidance for postoperative pain relief in patients undergoing inguinal hernia surgery. This study compares USG guided TAP Vs IIN/IHN block for post-operative analgesic efficacy in adults undergoing inguinal hernia surgery. Sixty adults aged 18 to 60 with American Society of Anesthesiologsts' grade I or II were included. After general anaesthesia, patients in Group I received USG guided unilateral TAP block using 0.75% ropivacaine 3 mg/kg (maximum 25 mL) and those in Group II received IIN/IHN block using 10 mL 0.75% ropivacaine. Postoperative rescue analgesia was with tramadol (intravenous) IV ± diclofenac IV in the first 4 h followed by oral diclofenac subsequently. Total analgesic consumption in the first 24 h was the primary objective, intraoperative haemodynamics, number of attempts and time required for performing the block as well as the postoperative pain scores were also evaluated. Time to first analgesic request was 319.8 ± 115.2 min in Group I and 408 ± 116.4 min in Group II ( P = 0.005). Seven patients (23.33%) in Group I and two (6.67%) in Group II required tramadol in first four hours. No patient in either groups received diclofenac IV. The average dose of tablet diclofenac was 200 ± 35.96 mg in Group I and 172.5 ± 34.96 mg in Group II ( P = 0. 004). USG guided IIN/IHN block reduces the postoperative analgesic requirement compared to USG guided TAP block.

Quantification of pain and satisfaction following laparoscopic and open hernia repair.

PubMed

Fujita, Fumihiko; Lahmann, Brian; Otsuka, Koji; Lyass, Sergey; Hiatt, Jonathan R; Phillips, Edward H

2004-06-01

Subjective experiences can be quantified by visual analog scale (VAS) scoring to improve comparison of surgical techniques. Prospective collection of outcome data by interview of patients at 1 day and 1 week following nonrandomized elective hernia repair by a single surgical group between May 1998 and April 2003. Cedars-Sinai Medical Center, Los Angeles, Calif. A total of 253 patients (239 men; mean age, 59 years) underwent repair by laparoscopic (n = 110, 105 bilateral, 92 total extraperitoneal, and 18 transabdominal preperitoneal) or tension-free open (n = 143, 133 unilateral) approach. Laparoscopic patients were significantly younger (52.0 vs 63.8 years, P<.001). Subjective measures included VAS scores (1-10, 1 indicates best) for pain at 1 day and 1 week postoperatively and overall satisfaction at 1 week. Objective measures included quantity and days of analgesic use and days before return to regular activities, including work and driving. Results were also compared by patient age (Spearman analysis). Satisfaction was high for both procedures; the laparoscopic procedure was superior only for return to work and driving. Spearman analysis showed a significant inverse relation between age and first-day pain (r= -0.15, P=.01), independent of operative approach. Because laparoscopic patients were younger, patients younger than 65 years were analyzed separately; laparoscopic patients had significantly less first-day pain (5.44 vs 6.30, P=.02). Pain following hernia repair was age dependent. Following laparoscopic repair, patients had lower first-day pain scores in younger patients and earlier return to normal activities in all patients. Satisfaction was similar for both approaches. Subjective experiences can be quantified, compared to detect subtle differences in outcome for competing surgical techniques, and used to counsel patients before operation, with the goal of improving satisfaction.

Abdominal aortic aneurysm associated with congenital solitary pelvic kidney treated with novel hybrid technique.

PubMed

Malinowski, Michael J; Al-Nouri, Omar; Hershberger, Richard; Halandras, Pegge M; Aulivola, Bernadette; Cho, Jae S

2014-08-01

Renal ectopia in the rare condition of associated abdominal aortic aneurysm presents a difficult clinical challenge with respect to access to the aorto-iliac segment and preservation of renal function because of its anomalous renal arterial anatomy and inevitable renal ischemia at the time of open repair. Multiple operative techniques are described throughout the literature to cope with both problems. We report a case of a 57-year-old male with an aorto-iliac aneurysm and a congenital solitary pelvic kidney successfully treated by hybrid total renal revascularization using iliorenal bypass followed by unilateral internal iliac artery coil embolization and conventional endovascular aortic aneurysm repair without any clinical evidence of renal impairment. Copyright © 2014 Elsevier Inc. All rights reserved.

Laparoscopic inguinal herniorrhaphy in children: a three-center experience with 933 repairs.

PubMed

Schier, Felix; Montupet, Philippe; Esposito, Ciro

2002-03-01

Laparoscopic inguinal herniorrhaphy has been introduced recently as an alternative to conventional open repair in children. This study was undertaken to evaluate the safety, efficacy, and reproducibility of this minimally invasive approach. A total of 933 laparoscopic inguinal herniorrhaphies were performed on 666 children (597 boys and 69 girls), ranging in age from 3 weeks to 14 years (median, 3.2 years). A 5-mm laparoscope was placed through an umbilical incision, and two 2-mm or 3-mm needle drivers were inserted through the lateral abdominal wall. The neck of the sac was closed with a 4-0 monofilament suture. The needle was inserted directly through the abdominal wall, and removed together with the trocar. Only the umbilical fascia was closed with an absorbable suture. No skin sutures were applied. A total of 911 indirect inguinal hernia sacs were closed (337 right, 172 left, 402 bilateral) and 22 direct inguinal hernias were repaired (14 boys, 3 girls; 11 right, 3 left, 4 bilateral). The median operating time was 22 minutes (range, unilateral, 7 to 45 min; bilateral, 9 to 51 min). With experience, this time gradually decreased. There were no intraoperative complications. The contralateral asymptomatic processus was unexpectedly open on the left side in 137 of the boys (23%) and 10 of the girls (15%), and on the right side in 131 of the boys (22%) and 21 of the girls (32%). In 16% of the children, the final procedure was modified on the basis of the anatomic findings. No hernia was found in 13 children (1.9%). The recurrence rate was 3.4% (follow-up time ranged from 2 months to 7 years). Hydroceles were observed in 4 children, and a subtle change in testicular position and size was noted in one boy. Laparoscopic inguinal repair in children proved safe and reproducible, although the recurrence rate was slightly higher than with the open approach. However, laparoscopy allows easy and precise identification of the type of defect and its correction. In this series, the incidence of direct inguinal hernias was higher, and the incidence of a patent contralateral processus vaginalis was lower than previously reported. Copyright 2002 by W.B. Saunders Company.

Suppression of Tinnitus in a Patient with Unilateral Sudden Hearing Loss: A Case Report

PubMed Central

Fioretti, Alessandra; Peri, Giorgia; Eibenstein, Alberto

2012-01-01

We describe a case of a 67-year-old woman with severe disabling right-sided tinnitus, mild hyperacusis, and headache. The tinnitus was associated with sudden right hearing loss and vertigo, which occurred about 18 months before. Magnetic resonance imaging (MRI) resulted in normal anatomical structures of the cochlea and of the cranial nerves showing a partial empty sella syndrome with suprasellar cistern hernia. Angio-MR revealed a bilateral contact between the anterior-inferior cerebellar artery (AICA) and the acoustic-facial nerve with a potential neurovascular conflict. Surgery was considered unnecessary after further evaluations. The right ear was successfully treated with a combination device (hearing aid plus sound generator). Shortly after a standard fitting procedure, the patient reported a reduction of tinnitus, hyperacusis, and headache which completely disappeared at the follow-up evaluation after 3, 6, and 12 months. This paper demonstrates that the combination device resulted in a complete tinnitus and hyperacusis suppression in a patient with unilateral sensorineural sudden hearing loss. Our paper further supports the restoration of peripheral sensory input for the treatment of tinnitus associated with hearing loss in selected patients. PMID:23227400

Microstructure of transcallosal motor fibers reflects type of cortical (re-)organization in congenital hemiparesis.

PubMed

Juenger, Hendrik; Koerte, Inga K; Muehlmann, Marc; Mayinger, Michael; Mall, Volker; Krägeloh-Mann, Ingeborg; Shenton, Martha E; Berweck, Steffen; Staudt, Martin; Heinen, Florian

2014-11-01

Early unilateral brain lesions can lead to different types of corticospinal (re-)organization of motor networks. In one group of patients, the contralesional hemisphere exerts motor control not only over the contralateral non-paretic hand but also over the (ipsilateral) paretic hand, as the primary motor cortex is (re-)organized in the contralesional hemisphere. Another group of patients with early unilateral lesions shows "normal" contralateral motor projections starting in the lesioned hemisphere. We investigated how these different patterns of cortical (re-)organization affect interhemispheric transcallosal connectivity in patients with congenital hemiparesis. Eight patients with ipsilateral motor projections (group IPSI) versus 7 patients with contralateral motor projections (group CONTRA) underwent magnetic resonance diffusion tensor imaging (DTI). The corpus callosum (CC) was subdivided in 5 areas (I-V) in the mid-sagittal slice and volumetric information. The following diffusion parameters were calculated: fractional anisotropy (FA), trace, radial diffusivity (RD), and axial diffusivity (AD). DTI revealed significantly lower FA, increased trace and RD for group IPSI compared to group CONTRA in area III of the corpus callosum, where transcallosal motor fibers cross the CC. In the directly neighboring area IV, where transcallosal somatosensory fibers cross the CC, no differences were found for these DTI parameters between IPSI and CONTRA. Volume of callosal subsections showed significant differences for area II (connecting premotor cortices) and III, where group IPSI had lower volume. The results of this study demonstrate that the callosal microstructure in patients with congenital hemiparesis reflects the type of cortical (re-)organization. Early lesions disrupting corticospinal motor projections to the paretic hand consecutively affect the development or maintenance of transcallosal motor fibers. Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Congenital Urinary Tract Obstruction: The Long View

PubMed Central

Chevalier, Robert L.

2015-01-01

Maldevelopment of the collecting system resulting in urinary tract obstruction (UTO) is the leading identifiable cause of CKD in children. Specific etiologies are unknown; most cases are suspected by discovering hydronephrosis on prenatal ultrasonography. Congenital UTO can reduce nephron number and cause bladder dysfunction, which contribute to ongoing injury. Severe UTO can impair kidney growth in utero, and animal models of unilateral ureteral obstruction show that ischemia and oxidative stress cause proximal tubular cell death, with later development of interstitial fibrosis. Congenital obstructive nephropathy therefore results from combined developmental and obstructive renal injury. Due to inadequacy of available biomarkers, criteria for surgical correction of upper tract obstruction are poorly established. Lower tract obstruction requires fetal or immediate postnatal intervention, and the rate of progression of CKD is highly variable. New biomarkers based on proteomics and determination of glomerular number by MRI should improve future care. Angiotensin inhibitors have not been effective in slowing progression, although avoidance of nephrotoxins and timely treatment of hypertension are important. Because congenital UTO begins in fetal life, smooth transfer of care from perinatologist to pediatric and adult urology and nephrology teams should optimize quality of life and ultimate outcomes for these patients. PMID:26088076

International guidelines for groin hernia management.

PubMed

2018-02-01

Worldwide, more than 20 million patients undergo groin hernia repair annually. The many different approaches, treatment indications and a significant array of techniques for groin hernia repair warrant guidelines to standardize care, minimize complications, and improve results. The main goal of these guidelines is to improve patient outcomes, specifically to decrease recurrence rates and reduce chronic pain, the most frequent problems following groin hernia repair. They have been endorsed by all five continental hernia societies, the International Endo Hernia Society and the European Association for Endoscopic Surgery. An expert group of international surgeons (the HerniaSurge Group) and one anesthesiologist pain expert was formed. The group consisted of members from all continents with specific experience in hernia-related research. Care was taken to include surgeons who perform different types of repair and had preferably performed research on groin hernia surgery. During the Group's first meeting, evidence-based medicine (EBM) training occurred and 166 key questions (KQ) were formulated. EBM rules were followed in complete literature searches (including a complete search by The Dutch Cochrane database) to January 1, 2015 and to July 1, 2015 for level 1 publications. The articles were scored by teams of two or three according to Oxford, SIGN and Grade methodologies. During five 2-day meetings, results were discussed with the working group members leading to 136 statements and 88 recommendations. Recommendations were graded as "strong" (recommendations) or "weak" (suggestions) and by consensus in some cases upgraded. In the Results and summary section below, the term "should" refers to a recommendation. The AGREE II instrument was used to validate the guidelines. An external review was performed by three international experts. They recommended the guidelines with high scores. The risk factors for inguinal hernia (IH) include: family history, previous contra-lateral hernia, male gender, age, abnormal collagen metabolism, prostatectomy, and low body mass index. Peri-operative risk factors for recurrence include poor surgical techniques, low surgical volumes, surgical inexperience and local anesthesia. These should be considered when treating IH patients. IH diagnosis can be confirmed by physical examination alone in the vast majority of patients with appropriate signs and symptoms. Rarely, ultrasound is necessary. Less commonly still, a dynamic MRI or CT scan or herniography may be needed. The EHS classification system is suggested to stratify IH patients for tailored treatment, research and audit. Symptomatic groin hernias should be treated surgically. Asymptomatic or minimally symptomatic male IH patients may be managed with "watchful waiting" since their risk of hernia-related emergencies is low. The majority of these individuals will eventually require surgery; therefore, surgical risks and the watchful waiting strategy should be discussed with patients. Surgical treatment should be tailored to the surgeon's expertise, patient- and hernia-related characteristics and local/national resources. Furthermore, patient health-related, life style and social factors should all influence the shared decision-making process leading up to hernia management. Mesh repair is recommended as first choice, either by an open procedure or a laparo-endoscopic repair technique. One standard repair technique for all groin hernias does not exist. It is recommended that surgeons/surgical services provide both anterior and posterior approach options. Lichtenstein and laparo-endoscopic repair are best evaluated. Many other techniques need further evaluation. Provided that resources and expertise are available, laparo-endoscopic techniques have faster recovery times, lower chronic pain risk and are cost effective. There is discussion concerning laparo-endoscopic management of potential bilateral hernias (occult hernia issue). After patient consent, during TAPP, the contra-lateral side should be inspected. This is not suggested during unilateral TEP repair. After appropriate discussions with patients concerning results tissue repair (first choice is the Shouldice technique) can be offered. Day surgery is recommended for the majority of groin hernia repair provided aftercare is organized. Surgeons should be aware of the intrinsic characteristics of the meshes they use. Use of so-called low-weight mesh may have slight short-term benefits like reduced postoperative pain and shorter convalescence, but are not associated with better longer-term outcomes like recurrence and chronic pain. Mesh selection on weight alone is not recommended. The incidence of erosion seems higher with plug versus flat mesh. It is suggested not to use plug repair techniques. The use of other implants to replace the standard flat mesh in the Lichtenstein technique is currently not recommended. In almost all cases, mesh fixation in TEP is unnecessary. In both TEP and TAPP it is recommended to fix mesh in M3 hernias (large medial) to reduce recurrence risk. Antibiotic prophylaxis in average-risk patients in low-risk environments is not recommended in open surgery. In laparo-endoscopic repair it is never recommended. Local anesthesia in open repair has many advantages, and its use is recommended provided the surgeon is experienced in this technique. General anesthesia is suggested over regional in patients aged 65 and older as it might be associated with fewer complications like myocardial infarction, pneumonia and thromboembolism. Perioperative field blocks and/or subfascial/subcutaneous infiltrations are recommended in all cases of open repair. Patients are recommended to resume normal activities without restrictions as soon as they feel comfortable. Provided expertise is available, it is suggested that women with groin hernias undergo laparo-endoscopic repair in order to decrease the risk of chronic pain and avoid missing a femoral hernia. Watchful waiting is suggested in pregnant women as groin swelling most often consists of self-limited round ligament varicosities. Timely mesh repair by a laparo-endoscopic approach is suggested for femoral hernias provided expertise is available. All complications of groin hernia management are discussed in an extensive chapter on the topic. Overall, the incidence of clinically significant chronic pain is in the 10-12% range, decreasing over time. Debilitating chronic pain affecting normal daily activities or work ranges from 0.5 to 6%. Chronic postoperative inguinal pain (CPIP) is defined as bothersome moderate pain impacting daily activities lasting at least 3 months postoperatively and decreasing over time. CPIP risk factors include: young age, female gender, high preoperative pain, early high postoperative pain, recurrent hernia and open repair. For CPIP the focus should be on nerve recognition in open surgery and, in selected cases, prophylactic pragmatic nerve resection (planned resection is not suggested). It is suggested that CPIP management be performed by multi-disciplinary teams. It is also suggested that CPIP be managed by a combination of pharmacological and interventional measures and, if this is unsuccessful, followed by, in selected cases (triple) neurectomy and (in selected cases) mesh removal. For recurrent hernia after anterior repair, posterior repair is recommended. If recurrence occurs after a posterior repair, an anterior repair is recommended. After a failed anterior and posterior approach, management by a specialist hernia surgeon is recommended. Risk factors for hernia incarceration/strangulation include: female gender, femoral hernia and a history of hospitalization related to groin hernia. It is suggested that treatment of emergencies be tailored according to patient- and hernia-related factors, local expertise and resources. Learning curves vary between different techniques. Probably about 100 supervised laparo-endoscopic repairs are needed to achieve the same results as open mesh surgery like Lichtenstein. It is suggested that case load per surgeon is more important than center volume. It is recommended that minimum requirements be developed to certify individuals as expert hernia surgeon. The same is true for the designation "Hernia Center". From a cost-effectiveness perspective, day-case laparoscopic IH repair with minimal use of disposables is recommended. The development and implementation of national groin hernia registries in every country (or region, in the case of small country populations) is suggested. They should include patient follow-up data and account for local healthcare structures. A dissemination and implementation plan of the guidelines will be developed by global (HerniaSurge), regional (international societies) and local (national chapters) initiatives through internet websites, social media and smartphone apps. An overarching plan to improve access to safe IH surgery in low-resource settings (LRSs) is needed. It is suggested that this plan contains simple guidelines and a sustainability strategy, independent of international aid. It is suggested that in LRSs the focus be on performing high-volume Lichtenstein repair under local anesthesia using low-cost mesh. Three chapters discuss future research, guidelines for general practitioners and guidelines for patients. The HerniaSurge Group has developed these extensive and inclusive guidelines for the management of adult groin hernia patients. It is hoped that they will lead to better outcomes for groin hernia patients wherever they live. More knowledge, better training, national audit and specialization in groin hernia management will standardize care for these patients, lead to more effective and efficient healthcare and provide direction for future research.

Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report.

PubMed

Abidi, Kamel; Jellouli, Manel; Ben Rabeh, Rania; Hammi, Yousra; Gargah, Tahar

2015-01-01

Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinosis complicated by hypercalcaemia. A male infant, aged 20 months presented growth retardation associated with a psychomotor impairment, dysmorphic features and nephrocalcinosis. He had also hypercalciuria and hypercalcemia. Echocardiography was normal. DMSA renal scintigraphy showed a single functioning kidney. The FISH generated one ELN signal in 20 metaphases read and found the presence of ELN deletion, with compatible Williams-Beuren syndrome.

Diagnosis and treatment of pulmonary hypertension in infancy

PubMed Central

Steinhorn, Robin H.

2013-01-01

Normal pulmonary vascular development in infancy requires maintenance of low pulmonary vascular resistance after birth, and is necessary for normal lung function and growth. The developing lung is subject to multiple genetic, pathological and/or environmental influences that can adversely affect lung adaptation, development, and growth, leading to pulmonary hypertension. New classifications of pulmonary hypertension are beginning to account for these diverse phenotypes, and or pulmonary hypertension in infants due to PPHN, congenital diaphragmatic hernia, and bronchopulmonary dysplasia (BPD). The most effective pharmacotherapeutic strategies for infants with PPHN are directed at selective reduction of PVR, and take advantage of a rapidly advancing understanding of the altered signaling pathways in the remodeled vasculature. PMID:24083892

Congenital diaphragmatic disease: An unusual presentation in adulthood. Case report.

PubMed

Gurrado, Angela; Isernia, Roberta Maria; De Luca, Alessandro; Ferraro, Valentina; Virgintino, Daniela; Napoli, Anna; Cavallaro, Giuseppe; Maiorano, Eugenio; Pezzolla, Angela; Testini, Mario

2018-05-07

Congenital diaphragmatic disease is a quite common condition that usually occurs in the neonatal period, and the diagnosis of congenital diaphragmatic disease in adulthood is rare. A 64-years-old Caucasian woman was admitted in emergency at our Department, due to a bowel obstruction and dyspnea. A CT-scan showed a diaphragmatic herniation in the left area, with malposition of dilated transverse and descending colon in the chest. An emergency laparatomy was performed, showing a toxic megacolon, in the absence of a true diaphragmatic hernia, and a left diaphragm and left liver hypoplasia. An intraoperative bronchoscopy revealed concomitant hypoplasia of the left lung. A subtotal colectomy with ileo-rectal anastomosis was performed. The postoperative course was uneventful. Histological examination demonstrated hyperplasia of the muscularis mucosae of the colon and cytoplasmic vacuolization of the Auerbach plexus ganglia. The karyotype genetic analysis excluded concomitant microdeletion or duplication syndromes. To our knowledge, this seems to be the first reported case of toxic megacolon in a patient with congenital hypoplasia of the left bronchial-lung system, of the left liver, and of the left diaphragm. The correct development of the diaphragm is essential for the neighboring organs. The observed clinical pattern could be related to a partial modification of neural crest cell detachment or migration, which could be responsible for bowel and diaphragm defects, even though it was not included in typical neural crest cell syndromes. Further researches should be performed in order to define the sporadic or syndromic source of these multiorgan defects. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

In utero therapy for congenital disorders using amniotic fluid stem cells

PubMed Central

Ramachandra, Durrgah L.; Shaw, Steven S. W.; Shangaris, Panicos; Loukogeorgakis, Stavros; Guillot, Pascale V.; Coppi, Paolo De; David, Anna L.

2014-01-01

Congenital diseases are responsible for over a third of all pediatric hospital admissions. Advances in prenatal screening and molecular diagnosis have allowed the detection of many life-threatening genetic diseases early in gestation. In utero transplantation (IUT) with stem cells could cure affected fetuses but so far in humans, successful IUT using allogeneic hematopoietic stem cells (HSCs), has been limited to fetuses with severe immunologic defects and more recently IUT with allogeneic mesenchymal stem cell transplantation, has improved phenotype in osteogenesis imperfecta. The options of preemptive treatment of congenital diseases in utero by stem cell or gene therapy changes the perspective of congenital diseases since it may avoid the need for postnatal treatment and reduce future costs. Amniotic fluid stem (AFS) cells have been isolated and characterized in human, mice, rodents, rabbit, and sheep and are a potential source of cells for therapeutic applications in disorders for treatment prenatally or postnatally. Gene transfer to the cells with long-term transgenic protein expression is feasible. Recently, pre-clinical autologous transplantation of transduced cells has been achieved in fetal sheep using minimally invasive ultrasound guided injection techniques. Clinically relevant levels of transgenic protein were expressed in the blood of transplanted lambs for at least 6 months. The cells have also demonstrated the potential of repair in a range of pre-clinical disease models such as neurological disorders, tracheal repair, bladder injury, and diaphragmatic hernia repair in neonates or adults. These results have been encouraging, and bring personalized tissue engineering for prenatal treatment of genetic disorders closer to the clinic. PMID:25566071

Surgery for congenital choanal atresia.

PubMed

Cedin, Antonio C; Atallah, Alvaro N; Andriolo, Régis B; Cruz, Oswaldo L; Pignatari, Shirley N

2012-02-15

Congenital choanal atresia is a rare abnormality characterized by unilateral or bilateral lack of patency of the posterior end of the nasal cavity. With an incidence of 1:5000 to 1:8000 births, it is twice as prevalent in females as it is in males. Surgical procedures aim to provide adequate functional choanal patency and a low rate of restenosis, avoid harm to any structure in development, enable shorter surgery and hospitalization times, and minimize morbidity and mortality. To evaluate the effectiveness and safety of the available surgical techniques for the treatment of congenital choanal atresia in patients with unilateral and bilateral atresia. We searched the Cochrane Ear, Nose and Throat Disorders Group Trials Register; the Cochrane Central Register of Controlled Trials (CENTRAL); PubMed; EMBASE; CINAHL; Web of Science; BIOSIS Previews; Cambridge Scientific Abstracts; ISRCTN and additional sources for published and unpublished trials. The date of the search was 31 January 2011. We planned to include parallel randomized or quasi-randomized controlled trials testing surgical approaches for the treatment of congenital atresia (irrespective of gender and age) that evaluated normal/adequate respiratory function (self reported or preserved nasal airway) and restenosis as the main primary outcomes. We did not consider reoperation and non-congenital atresia (e.g. traumatic, iatrogenic atresias) for inclusion. Three review authors independently assessed the titles and abstracts of the identified articles to determine potential relevance. For dichotomous and continuous variables, we planned to calculate risk ratios (relative risks; RR) and mean differences (MD) with 95% confidence intervals (CI), respectively. We planned to use the random-effects model since we were expecting substantial clinical and methodological heterogeneity. No randomized controlled trials were identified. From the 120 reports retrieved using our search strategy, 46 primary studies had the potential to be included since they had tested surgical approaches for choanal atresia. However, we excluded all of them during the final selection process because their study designs did not meet our inclusion criteria. There is no definitive evidence, based on randomized controlled trials, to demonstrate the potential advantages and disadvantages of any specific surgical technique for patients with choanal atresia. Specialists should unify their efforts in multicenter randomized controlled trials that test the effectiveness and safety of different surgical techniques in patients with choanal atresia.

Correlation Between White Matter Lesions and Intelligence Quotient in Patients With Congenital Cytomegalovirus Infection.

PubMed

Inaba, Yuji; Motobayashi, Mitsuo; Nishioka, Makoto; Kaneko, Tomoki; Yamauchi, Shoko; Kawasaki, Yoichiro; Shiba, Naoko; Nishio, Shin-ya; Moteki, Hideaki; Miyagawa, Maiko; Takumi, Yutaka; Usami, Shin-ichi; Koike, Kenichi

2016-02-01

It is well known that congenital cytomegalovirus infection exhibits white matter and other types of lesions in magnetic resonance imaging (MRI), but little is known on the clinical significance of white matter lesions because they are also present in asymptomatic congenital cytomegalovirus infection. We investigated for relationships among white matter lesions, intelligence quotient, and other neurodevelopmental features. Nine children (five boys and four girls; mean age: 87.4 months, range: 63-127 months) with sensorineural hearing loss (five bilateral and four unilateral) had been diagnosed as having congenital cytomegalovirus infection by positive polymerase chain reaction findings of dried umbilical cords. They were evaluated for the presence of autistic features, tested using Wechsler Intelligence Scale for Children-Fourth Edition for intelligence quotient, and underwent brain MRI to measure white matter lesion localization and volume. At the time of MRI examination (mean age: 69.4 months, range: 19-92 months), white matter lesions were detected in eight of nine patients. Five subjects were diagnosed as having autism spectrum disorders. We observed increased white matter lesion volume was associated with lower intelligence quotient scores (R(2) = 0.533, P = 0.026) but not with autism spectrum disorders. In individuals with congenital cytomegalovirus, an increased white matter lesion volume is associated with lower intelligence quotient scores but not with an increased likelihood of autistic behavior. Copyright © 2016 Elsevier Inc. All rights reserved.

The abnormalities of trapezius muscle might be a component of Poland's syndrome.

PubMed

Yiyit, Nurettin; Işıtmangil, Turgut; Oztürker, Coşkun

2014-11-01

Poland's syndrome is a rare unilateral congenital anomaly characterized by the absence of the pectoral muscle and hand anomalies. By the time, new components including the absence or hypoplasia of many muscles have been identified, however, the anomalies of trapezius muscle have not been reported in patients with Poland's syndrome. The accepted etiological theory is the temporary interruption of blood supply of the subclavian artery and its branches in the early gestational period. The artery of the trapezius muscle is also one of the branches of subclavian artery. Just because of that, it is likely to trapezius muscle be affected in patients with Poland's syndrome. We are presenting a case of Poland's syndrome associated with unilateral partial absence of trapezius muscle to support this hypothesis. Copyright © 2014 Elsevier Ltd. All rights reserved.

Poland's syndrome: report of a variant.

PubMed

Legbo, Jacob Ndas

2006-01-01

Poland's syndrome is a rare congenital anomaly consisting of unilateral partial or total absence of a breast and/or pectoralis major muscle, and ipsilateral symbrachydactyly. Many structural and functional abnormalities have been described in association with the syndrome. However, only a few hemostatic disorders have been reported. The case of a 12-year-old secondary school girl with unilateral hypoplasia of the breast, absence of anterior axillary fold and absence of the pectoralis major muscle is hereby presented. She also had thrombocytopenia and several episodes of spontaneous bleeding from the ipsilateral anterior chest wall. She did well on medical treatment, with no recurrence of bleeding 10 months after treatment. The author is not aware of any previously reported case of Poland's syndrome associated with bleeding disorder in Africa. This case is presented to alert clinicians of its existence and possible association with hematological disorders.

Health-related quality of life and its determinants in children with a congenital diaphragmatic hernia

PubMed Central

2013-01-01

Background The development of new therapeutics has led to progress in the early management of congenital diaphragmatic hernia (CDH) in pediatric intensive care units (PICU). Little is known about the impact on the quality of life (QoL) of children and their family. The aim of this study was to assess the impact of CDH treated according to the most recent concepts and methods outlined above on child survivors’ QoL and their parents’ QoL. Patients and methods This study incorporated a cross-sectional design performed in two PICU (Marseille, France). Families of CDH survivors born between 1999 and 2008 were eligible. The following data were recorded: socio-demographics, antenatal history and delivery, initial hospitalization history. Self-reported data were collected by mail, including current clinical problems of the children (13-symptom list), children’s QoL (Kidscreen-27 questionnaire), and parents’ QoL (Short-Form 36 questionnaire). Children’s QoL score was compared with controls and QoL of survivors of childhood leukemia. Parent’s QoL was compared with controls. Non-parametric statistics were employed. Results Forty-two families agreed to participate and questionnaires were completed by 32 of them. Twenty-one children had a current clinical problems related to CDH. All the QoL scores of CHD survivors were significantly lower compared with controls. The physical well-being dimension was significantly higher for CHD survivors compared with survivors of childhood leukemia. Gastro-esophageal reflux at discharge, antenatal diagnosis, length of stay in the PICU, and neuropsychological and respiratory issues significantly impacted QoL scores of children. The parents of CHD survivors had significantly poorer score in emotional role dimension compared with controls. Conclusion The impact of CDH on QoL seems to be important and must be understood by clinicians who treat these children and their parents. PMID:23786966

Fetal lung volume in congenital diaphragmatic hernia: association of prenatal MR imaging findings with postnatal chronic lung disease.

PubMed

Debus, Angelika; Hagelstein, Claudia; Kilian, A Kristina; Weiss, Christel; Schönberg, Stefan O; Schaible, Thomas; Neff, K Wolfgang; Büsing, Karen A

2013-03-01

To assess whether chronic lung disease (CLD) in surviving infants with congenital diaphragmatic hernia (CDH) is associated with lung hypoplasia on the basis of the results of antenatal observed-to-expected fetal lung volume (FLV) ratio measurement at magnetic resonance (MR) imaging. The study received approval from the institutional review board, with waiver of informed consent for this retrospective review from patients who had previously given informed consent for prospective studies. The ratio of observed to expected FLV at MR imaging was calculated in 172 fetuses with CDH. At postpartum day 28, the need for supplemental oxygen implicated the diagnosis of CLD. At day 56, patients with CLD were assigned to one of three groups-those with mild, moderate, or severe CLD-according to their demand for oxygen. Logistic regression analysis was used to assess the prognostic value of the individual observed-to-expected FLV ratio for association with postnatal development of CLD. Children with CLD were found to have significantly smaller observed-to-expected FLV ratios at MR imaging than infants without CLD (P < .001). Grading of CLD revealed significant differences in observed-to-expected FLV ratio between patients with mild CLD and those with moderate (P = .012) or severe (P = .007) CLD. For an observed-to-expected FLV ratio of 5%, 99% of patients with CDH developed CLD, compared with less than 5% of fetuses with an observed-to-expected FLV ratio of 50%. Perinatally, development and grade of CLD were further influenced by the need for extracorporeal membrane oxygenation (ECMO) (P < .001) and gestational age at delivery (P = .009). Manifestation of CLD in surviving infants with CDH is associated with the prenatally determined observed-to-expected FLV ratio. Early neonatal therapeutic decisions can additionally be based on this ratio. Perinatally, ECMO requirement and gestational age at delivery are useful in further improving the estimated probability of CLD.

Evidence for decreased lipofibroblast expression in hypoplastic rat lungs with congenital diaphragmatic hernia.

PubMed

Friedmacher, Florian; Fujiwara, Naho; Hofmann, Alejandro Daniel; Takahashi, Hiromizu; Gosemann, Jan-Hendrik; Puri, Prem

2014-10-01

Pulmonary hypoplasia (PH) is a serious condition in newborns with congenital diaphragmatic hernia (CDH). Lipid-containing interstitial fibroblasts (LIFs) play an essential role in fetal lung maturation by stimulating alveolarization and lipid homeostasis. In rodents, LIFs are first evident during the canalicular phase of lung development with a significant increase over the last 4 days of gestation. Adipocyte differentiation-related protein (ADRP), a functional lipogenic molecular marker characterizing LIFs, is highly expressed in fetal lungs during this critical time period. We hypothesized that LIF expression in hypoplastic rat lungs is decreased in the nitrofen-induced CDH model, which is accompanied by reduced alveolar ADRP expression and lipid content. On embryonic day 9.5 (E9.5), time-mated rats received either nitrofen or vehicle. Fetuses were sacrificed on selected time points E18.5 and E21.5, and dissected lungs were divided into controls and CDH-associated PH. Pulmonary gene expression levels of ADRP were determined by quantitative real-time polymerase chain reaction. ADRP immunohistochemistry and oil red O staining were used to assess pulmonary protein expression and lipid content. Immunofluorescence double staining for alpha smooth muscle actin, which is known to be absent in LIFs, and lipid droplets was performed to evaluate the pulmonary expression of this specific subset of fibroblasts. Relative mRNA expression of ADRP was significantly reduced in lungs of CDH-associated PH on E18.5 and E21.5 compared to controls. ADRP immunoreactivity and lipid staining were markedly diminished in alveolar mesenchymal cells of CDH-associated PH on E18.5 and E21.5 compared to controls. Confocal laser scanning microscopy demonstrated markedly decreased LIF expression in alveolar interstitium of CDH-associated PH on E18.5 and E21.5 compared to controls. Decreased pulmonary LIF expression during late gestation suggests impaired LIF functioning in the nitrofen-induced CDH model, which may cause disruption in fetal alveolarization and lipid homeostasis, and thus contribute to the development of PH.

Prenatal administration of retinoic acid increases the trophoblastic insulin-like growth factor 2 protein expression in the nitrofen model of congenital diaphragmatic hernia.

PubMed

Kutasy, Balazs; Friedmacher, Florian; Duess, Johannes W; Puri, Prem

2014-02-01

The high mortality rate in congenital diaphragmatic hernia (CDH) is attributed to pulmonary hypoplasia (PH). Insulin-like growth factor 2 (IGF2) is an important regulator of fetal growth. The highest levels of IGF2 expression are found in the placenta, which are negatively regulated by decidual retinoid acid receptor alpha (RARα). It has been demonstrated that prenatal administration of retinoic acid (RA) suppresses decidual RARα expression. Previous studies have further shown that prenatal administration of RA can reverse PH in nitrofen-induced CDH model. In IGF2 knockout animals, low levels of IGF2 are associated with decreased placental growth and PH. We therefore hypothesized that nitrofen decreases trophoblastic IGF2 expression and prenatal administration of RA increases it through decidual RARα in the nitrofen-induced CDH model. Pregnant rats were exposed to either olive oil or nitrofen on day 9 of gestation (D9). RA was given intraperitoneally on D18, D19 and D20. Fetuses were harvested on D21 and divided into three groups: control, CDH and nitrofen+RA. Immunohistochemistry was performed to evaluate decidual RARα and trophoblastic IGF2 expression. Protein levels of IGF2 in serum, intra-amniotic fluid and left lungs were measured by enzyme-linked immunosorbent assay. Significant growth retardation of placenta and left lungs was observed in the CDH group compared to control and nitrofen+RA group. Markedly increased decidual RARα and decreased IGF2 immunoreactivity were found in the CDH group compared to control and nitrofen+RA group. Significantly decreased IGF2 protein levels were detected in serum, intra-amniotic fluid and left lungs in the CDH group compared to control and nitrofen+RA group. Our findings suggest that nitrofen may disturb trophoblastic IGF2 expression through decidual RARα resulting in retarded placental growth and PH in the nitrofen-induced CDH. Prenatal administration of RA may promote lung and placental growth by increasing trophoblastic IGF2 expression.

Decreased expression of miR-33 in fetal lungs of nitrofen-induced congenital diaphragmatic hernia rat model.

PubMed

Zhu, Shibo; He, Qiuming; Zhang, Ruizhong; Wang, Yong; Zhong, Wei; Xia, Huimin; Yu, Jiakang

2016-07-01

The pathogenesis of congenital diaphragmatic hernia (CDH) and the causes of pulmonary hypoplasia and hypertension remain unclear. miRNAs have been identified to play important regulatory roles in pulmonary pathological processes and lung development. We carried out the study to investigate the hypothesis that specific miRNAs are expressed differently in the lungs of nitrofen-induced rats, and to explore the possible targeting genes and roles of miR-33 in the pathological process of CDH. Pregnant rats were divided into nitrofen and control group, and were exposed to nitrofen or vehicle respectively on D9. Fetuses were harvested on D21 and left lungs were dissected. 4 samples from each group underwent miRNAs microarray analysis using Agilent miRNA Array. Quantitative real-time polymerase chain reaction (qRT-PCR) was further performed to validate the miR-33 expression. 11 miRNAs exhibited increased expression in nitrofen group compared with control (p<0.05): miR-3588, miR-382*, miR-363, miR-375, miR-487b, miR-483, miR-382, miR-495, miR-434, miR-181a, and miR-99a. 14 miRNAs showed decreased expression (p<0.05): miR-33, miR-193, miR-338, miR-30c-2*, miR-22, miR-18a, miR-532-5p, miR-28, miR-96, miR-551b, miR-141, miR-362*, miR-30a*, and miR-3559-5p. Among them, miR-33 expression was markedly decreased in CDH lungs compared to controls and the result was confirmed by qRT-PCR. Decreased expression of miR-33 was found in the nitrofen-induced hypoplastic lung on D21. This finding suggests that pathogenesis of lung hypoplasia and CDH in the nitrofen model involve epigenetic layer of regulation. Copyright © 2016 Elsevier Inc. All rights reserved.

Myogenin gene expression is not altered in the developing diaphragm of nitrofen-induced congenital diaphragmatic hernia.

PubMed

Takahashi, Toshiaki; Friedmacher, Florian; Takahashi, Hiromizu; Hofmann, Alejandro Daniel; Puri, Prem

2014-09-01

Pleuroperitoneal folds (PPFs) represent the only source of muscle precursors cells (MPCs) in the primordial diaphragm. However, the exact pathogenesis of malformed PPFs and congenital diaphragmatic hernia (CDH) remains unclear. The muscle-specific transcription factor myogenin plays a key role during development and muscularization of the fetal diaphragm. Although myogenin knockout mice lack skeletal muscle fibers, the diaphragmatic musculature is intact without any defects. It has further been demonstrated that proliferation and differentiation of MPCs in PPFs and developing diaphragms are normal in rodent CDH models. We hypothesized that myogenin gene expression is not altered in malformed PPFs, developing diaphragms and diaphragmatic musculature in the nitrofen-induced CDH model. Pregnant rats were exposed to nitrofen or vehicle on gestational day 9 (D9). Fetuses were harvested during PPF formation (D13), diaphragmatic development (D14-15) and muscularization (D18-21). Fetal PPFs, developing diaphragms and diaphragmatic musculature were dissected and divided into nitrofen and control groups. Myogenin mRNA levels were analyzed by quantitative real-time polymerase chain reaction, while immunohistochemistry was performed to investigate myogenin protein expression and distribution. Relative mRNA expression of myogenin was not significant different in PPFs (0.30 ± 0.09 vs. 0.48 ± 0.09; P = 0.37), developing diaphragms (1.25 ± 0.29 vs. 1.60 ± 0.32; P=0.53) and diaphragmatic musculature (1.08 ± 0.24 vs. 1.59 ± 0.20; P = 0.15) of nitrofen-exposed fetuses compared to controls. Myogenin immunoreactivity was not altered in the muscular components of malformed PPFs, developing diaphragms and diaphragmatic musculature of nitrofen-exposed fetuses compared to controls. Myogenin gene expression is not altered in PPFs, developing diaphragms and diaphragmatic musculature in the nitrofen-induced CDH model, thus suggesting that diaphragmatic defects in this model develop independent of myogenic processes.

Down-regulation of N-deacetylase-N-sulfotransferase-1 signaling in the developing diaphragmatic vasculature of nitrofen-induced congenital diaphragmatic hernia.

PubMed

Takahashi, Toshiaki; Friedmacher, Florian; Zimmer, Julia; Puri, Prem

2017-06-01

Congenital diaphragmatic hernia (CDH) has been attributed to various developmental abnormalities of the underlying tissue components. N-deacetylase-N-sulfotransferase-1 (Ndst1) is a strongly expressed biosynthetic enzyme in endothelial cells, which has recently been identified as an important factor during diaphragmatic vascularization. Loss of endothelial Ndst1 has been demonstrated to cause angiogenic defects in the developing diaphragm and disrupt normal diaphragmatic development. Furthermore, deficiency of Ndst1 diminishes the expression of slit homolog 3 (Slit3), a known CDH-related gene that has been associated with reduced vascular density and muscle defects in the diaphragm of Slit3 -/- mice. We hypothesized that expression of Ndst1 and Slit3 is decreased in the diaphragmatic vasculature of fetal rats with nitrofen-induced CDH. Time-mated rats received either nitrofen or vehicle on gestational day 9 (D9). Fetal diaphragms were microdissected on D13, D15 and D18, and divided into control and nitrofen-exposed specimens. Gene expression levels of Ndst1 and Slit3 were assessed using qRT-PCR. Immunofluorescence-double-staining for Ndst1 and Slit3 was performed to evaluate protein expression and localization. Relative mRNA expression of Ndst1 and Slit3 was significantly decreased in pleuroperitoneal folds (D13), developing diaphragms (D15) and fully muscularized diaphragms (D18) of nitrofen-exposed fetuses compared to controls. Confocal-laser-scanning-microscopy revealed markedly diminished Ndst1 and Slit3 expression in endothelial cells within the diaphragmatic vasculature on D13, D15 and D18 compared to controls. Down-regulation of Ndst1 signaling in the developing diaphragm may impair endothelial cell migration and angiogenesis, thus leading to defective diaphragmatic vascular development and CDH. Ib. Copyright © 2017 Elsevier Inc. All rights reserved.

Imbalance of NFATc2 and KV1.5 Expression in Rat Pulmonary Vasculature of Nitrofen-Induced Congenital Diaphragmatic Hernia.

PubMed

Zimmer, Julia; Takahashi, Toshiaki; Hofmann, Alejandro Daniel; Puri, Prem

2017-02-01

Aim of the Study  Nuclear factor of activated T-cell (NFATc2), a Ca 2+ /calcineurin-dependent transcription factor, is reported to be activated in human and animal pulmonary hypertension (PH). KV1.5, a voltage-gated K + (KV) channel, is expressed in pulmonary artery smooth muscle cells (PASMC) and downregulated in PASMC in patients and animals with PH. Furthermore, activation of NFATc2 downregulates expression of KV1.5 channels, leading to excessive PASMC proliferation. The aim of this study was to investigate the pulmonary vascular expression of NFATc2 and KV1.5 in rats with nitrofen-induced congenital diaphragmatic hernia (CDH). Materials and Methods  After ethical approval, time-pregnant Sprague-Dawley rats received nitrofen or vehicle on gestational day 9 (D9). When sacrificed on D21, the fetuses ( n  = 22) were divided into CDH and control groups. Using quantitative real-time polymerase chain reaction and western blotting, we determined the gene and protein expression of NFATc2 and KV1.5. Confocal microscopy was used to detect both proteins in the pulmonary vasculature. Results  Relative mRNA levels of NFATc2 were significantly upregulated and KV1.5 levels were significantly downregulated in CDH lungs compared with controls ( p  < 0.05). Western blotting confirmed the imbalanced pulmonary protein expression of both proteins. An increased pulmonary vascular expression of NFATc2 and a diminished expression of KV1.5 in CDH lungs compared with controls were seen in confocal microscopy. Conclusions  This study demonstrates for the first time an altered gene and protein expression of NFATc2 and KV1.5 in the pulmonary vasculature of nitrofen-induced CDH. Upregulation of NFATc2 with concomitant downregulation of KV1.5 channels may contribute to abnormal vascular remodeling resulting in PH in this model. Georg Thieme Verlag KG Stuttgart · New York.

Fetoscopic Therapy for Severe Pulmonary Hypoplasia in Congenital Diaphragmatic Hernia: A First in Prenatal Regenerative Medicine at Mayo Clinic.

PubMed

Ruano, Rodrigo; Klinkner, Denise B; Balakrishnan, Karthik; Novoa Y Novoa, Victoria A; Davies, Norman; Potter, Dean D; Carey, William A; Colby, Christopher E; Kolbe, Amy B; Arendt, Katherine W; Segura, Leal; Sviggum, Hans P; Lemens, Maureen A; Famuyide, Abimbola; Terzic, Andre

2018-05-15

To introduce the prenatal regenerative medicine service at Mayo Clinic for fetal endoscopic tracheal occlusion (FETO) care for severe congenital diaphragmatic hernia (CDH). Two cases of prenatal management of severe CDH with FETO between January and August 2017 are reported. Per protocol, FETO was offered for life-threatening severe CDH at between 26 and 29 weeks' gestation. Regenerative outcome end point was fetal lung growth. Gestational age at procedure and maternal and perinatal outcomes were additional monitored parameters. Diagnosis by ultrasonography of severe CDH was based on extremely reduced lung size (observed-to-expected lung area to head circumference ratio [o/e-LHR], eg, o/e-LHR of 20.3% for fetus 1 and 23.0% for fetus 2) along with greater than one-third of the liver herniated into the chest in both fetuses. Both patients underwent successful FETO at 28 weeks. At the time of intervention, no maternal or fetal complications were observed. Postintervention, fetal lung growth was observed in both fetuses, reaching an o/e-LHR of 62.7% at 36 weeks in fetus 1 and 52.4% at 32 weeks in fetus 2. The balloons were removed successfully at 35 weeks and 4 days by ultrasound-guided puncture in the first patient and at 32 weeks and 3 days by ex utero intrapartum therapy-to-airway procedure in the second patient. Postnatal management followed standard of care with patch CDH therapy. At discharge, one patient was breathing normally, whereas the other required minimal nasal cannula oxygen support. The successful launch of the first fetoscopic therapy for CDH at Mayo Clinic reveals its feasibility and safety, with early signs of benefit documented by fetal lung growth and reversal of severe pulmonary hypoplasia. clinicaltrials.gov Identifier: G170062. Copyright © 2018 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

Neurobiologic Correlates of Attention and Memory Deficits Following Critical Illness in Early Life.

PubMed

Schiller, Raisa M; IJsselstijn, Hanneke; Madderom, Marlous J; Rietman, André B; Smits, Marion; van Heijst, Arno F J; Tibboel, Dick; White, Tonya; Muetzel, Ryan L

2017-10-01

Survivors of critical illness in early life are at risk of long-term-memory and attention impairments. However, their neurobiologic substrates remain largely unknown. A prospective follow-up study. Erasmus MC-Sophia Children's Hospital, Rotterdam, the Netherlands. Thirty-eight school-age (8-12 yr) survivors of neonatal extracorporeal membrane oxygenation and/or congenital diaphragmatic hernia with an intelligence quotient greater than or equal to 80 and a below average score (z score ≤ -1.5) on one or more memory tests. None. Intelligence, attention, memory, executive functioning, and visuospatial processing were assessed and compared with reference data. White matter microstructure and hippocampal volume were assessed using diffusion tensor imaging and structural MRI, respectively. Global fractional anisotropy was positively associated with selective attention (β = 0.53; p = 0.030) and sustained attention (β = 0.48; p = 0.018). Mean diffusivity in the left parahippocampal region of the cingulum was negatively associated with visuospatial memory, both immediate (β = -0.48; p = 0.030) and delayed recall (β = -0.47; p = 0.030). Mean diffusivity in the parahippocampal region of the cingulum was negatively associated with verbal memory delayed recall (left: β = -0.52, p = 0.021; right: β = -0.52, p = 0.021). Hippocampal volume was positively associated with verbal memory delayed recall (left: β = 0.44, p = 0.037; right: β = 0.67, p = 0.012). Extracorporeal membrane oxygenation treatment or extracorporeal membrane oxygenation type did not influence the structure-function relationships. Our findings indicate specific neurobiologic correlates of attention and memory deficits in school-age survivors of neonatal extracorporeal membrane oxygenation and congenital diaphragmatic hernia. A better understanding of the neurobiology following critical illness, both in early and in adult life, may lead to earlier identification of patients at risk for impaired neuropsychological outcome with the use of neurobiologic markers.

Risk factors for congenital diaphragmatic hernia in the Bogota birth defects surveillance and follow-up program, Colombia.

PubMed

García, Ana M; Machicado, S; Gracia, G; Zarante, I M

2016-03-01

The mortality rate for congenital diaphragmatic hernia (CDH) remains high and prevention efforts are limited by the lack of known risk factors. The aim of this study was to determine prevalence, risk factors, and neonatal results associated with CDH on a surveillance system hospital-based in Bogotá, Colombia. The data used in this study were obtained from The Bogota Birth Defects Surveillance and Follow-up Program (BBDSFP), between January 2001 and December 2013. With 386,419 births, there were 81 cases of CDH. A case-control methodology was conducted with 48 of the total cases of CDH and 192 controls for association analysis. The prevalence of CDH was 2.1 per 10,000 births. In the case-control analysis, risk factors found were maternal age ≥35 years (OR, 33.53; 95 % CI, 7.02-160.11), infants with CDH were more likely to be born before 37 weeks of gestation (OR, 5.57; 95 % CI, 2.05-15.14), to weigh less than 2500 g at birth (OR, 9.05; 95 % CI, 3.51-23.32), and be small for gestational age (OR, 5.72; 95 % CI, 2.18-14.99) with a high rate of death before hospital discharge in the CDH population (CDH: 38 % vs BBDSFP: <1 %; p < 0.001). The prevalence of CDH calculated was similar to the one reported in the literature. CDH is strongly associated with a high rate of death before hospital discharge and the risk factors found were maternal age ≥35 years, preterm birth, be small for gestational age, and have low weight at birth. These neonatal characteristics in developing countries would help to identify early CDH. Prevention efforts have been limited by the lack of known risk factors and established epidemiological profiles, especially in developing countries.

[Unilateral laparoscopic cryptorchidectomy in a llama].

PubMed

Zulauf, M; Bergadano, A; Steiner, A

2002-05-01

Cryptorchism is an inherited congenital abnormality characterized by the failure of one or both testes to descend into the scrotum. Diagnosis can be difficult if the retained testicular tissue cannot be localized during clinical examination and the history of the animal is unknown, or if the animal shows persistent male behaviour despite the history of successful previous castration. The present case report describes the history of a cryptorchid Lama and the techniques of general anesthesia and laparoscopic cryptorchidectomy advocated.

Congenital malformations among newborns admitted in the neonatal unit of a tertiary hospital in Enugu, South-East Nigeria - a retrospective study

PubMed Central

2012-01-01

Background Congenital abnormalities are not uncommon among newborns and contribute to neonatal and infant morbidity and mortality. The prevalence and pattern of presentation vary from place to place. Many a time the exact etiology is unknown but genetic and environmental factors tend to be implicated. Methods The objective of this study was to determine the prevalence of congenital malformations among newborns admitted in a tertiary hospital in Enugu, the nature of these abnormalities and the outcome/prognosis. For purposes of this study, congenital abnormalities are defined as obvious abnormality of structure or form which is present at birth or noticed within a few days after birth. A cross-sectional retrospective study in which a review of the records of all babies admitted in the Newborn Special Care Unit (NBSCU) of the University of Nigeria Teaching Hospital (UNTH), Ituku/Ozalla, Enugu over a four year period (January 2007-April 2011) was undertaken. All babies admitted in the unit with the diagnosis of congenital abnormality were included in the study. Information extracted from the records included characteristics of the baby, maternal characteristics, nature/type of abnormalities and outcome. Data obtained was analyzed using SPSS 13. Rates and proportions were calculated with 95% confidence interval. The proportions were compared using students T-test. Level of significance was set at P < 0.05 Results Seventeen (17) out of a total of six hundred and seven newborn babies admitted in the newborn unit of UNTH over the study period (Jan 2007-March 2011) were found to have congenital abnormalities of various types, giving a prevalence of 2.8%. Common abnormalities seen in these babies were mainly surgical birth defects and included cleft lip/cleft palate, neural tube defects (occurring either singly or in combination with other abnormalities), limb abnormalities (often in combination with neural tube defects of various types), omphalocoele, umbilical herniae, ano-rectal malformations and dysmorphism associated with multiple congenital abnormalities. Conclusions The results of this study show that 2.8% of babies admitted to a Newborn Special Care Unit in a teaching hospital in Enugu had congenital abnormalities and that the commonest forms seen were mainly surgical birth defects and includes cleft lip/cleft palate and neural tube defects. PMID:22472067

Is two-port laparoendoscopic single-site surgery (T-LESS) feasible for pediatric hydroceles? Single-center experience with the initial 59 cases.

PubMed

Wang, Furan; Shou, Tiejun; Zhong, Hongji

2018-02-01

Although T-LESS is increasingly being used to treat pediatric inguinal hernia, there is no study regarding T-LESS for pediatric hydrocele. To further evaluate the feasibility of T-LESS and present our single-center experience for repair of pediatric hydroceles. From January 2016 to July 2016, all boys undergoing T-LESS for hydrocele in our institute were retrospectively reviewed. A laparoscope and a needle-holding forceps were introduced at umbilicus. A round needle with silk suture was stabbed through the abdominal wall. The peritoneum around the internal ring was sutured continuously in a clockwise direction. After a complete purse-string suture, a triple knot was performed by using a single-instrument tie technique. The contralateral patent processus vaginalis (PPV) was repaired simultaneously if present. Overall, 59 boys with hydrocele were included (22 on the left side, 32 on the right side, and 5 bilaterally) (Table). During the procedure, all hydroceles were observed with a PPV but the fluid needed to be aspired in 39 boys. A contralateral PPV was present in 24 boys with unilateral hydrocele, and finally 88 repairs were performed. Mean operative time was 18.3 min for unilateral repair and 27.5 min for bilateral repair, respectively. All procedures were uneventful besides a minor injury to the inferior epigastric vessels. After a mean follow-up of 10.7 months, neither recurrence nor other postoperative complication was observed. There were no visible scars on the abdominal wall. Compared with open repair of pediatric inguinal hernia and hydrocele, laparoscopic surgery had several advantages, such as exploration of contralateral PPV, identification of rare hernias, diminished postoperative pain, improved cosmesis, faster recovery, and fewer complications. Differing from the laparoscopic retroperitoneal approach, T-LESS included no subcutaneous tissue in the ligature, and its knot was completely in the peritoneal cavity which could radically prevent the severe pain and suture granuloma in the ligated region. Furthermore, the skin incisions after T-LESS were hidden in umbilicus, which could achieve an excellent cosmetic result. By performing T-LESS for pediatric hydroceles, the current study showed very satisfactory results, such as high success rate, minor complication, and excellent cosmesis. However, because of the difficult learning curve of T-LESS, some technical details (e.g. avoiding injury to the spermatic cord, completely suturing the peritoneal folds and reducing disturbance between the instruments) still need to be improved in the future. T-LESS appears to be a safe and effective method for repair of pediatric hydroceles. Copyright © 2017 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Volvulus of the ascending colon in a non-rotated midgut: Plain film and MDCT findings.

PubMed

Camera, Luigi; Calabrese, Milena; Mainenti, Pier Paolo; Masone, Stefania; Vecchio, Walter Del; Persico, Giovanni; Salvatore, Marco

2012-10-28

Colonic volvulus is a relatively uncommon cause of large bowel obstruction usually involving mobile, intra-peritoneal, colonic segments. Congenital or acquired anatomic variation may be associated with an increased risk of colonic volvulus which can occasionally involve retro-peritoneal segments. We report a case of 54-year-old female who presented to our Institution to perform a plain abdominal film series for acute onset of cramping abdominal pain. Both the upright and supine films showed signs of acute colonic obstruction which was thought to be due to an internal hernia of the transverse colon into the lesser sac. The patient was therefore submitted to a multi-detector contrast-enhanced computed tomography (CT). CT findings were initially thought to be consistent with the presumed diagnosis of internal hernia but further evaluation and coronal reformatting clearly depicted the presence of a colonic volvulus possibly resulting from a retro-gastric colon. At surgery, a volvulus of the ascending colon was found and a right hemi-colectomy had to be performed. However, a non rotated midgut with a right-sided duodeno-jejunal flexure and a left sided colon was also found at laparotomy and overlooked in the pre-operative CT. Retrospective evaluation of CT images was therefore performed and a number of CT signs of intestinal malrotation could be identified.

Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ignacio Rodriquez, J.; Garcia, I.; Alvarez, J.

1994-11-01

The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by {open_quotes}coarse{close_quotes} face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a {open_quotes}coarse{close_quotes} face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lumphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newbornmore » infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of {open_quotes}coarse{close_quotes} face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. 31 refs., 10 figs., 1 tab.« less

A Novel Technique of Posterolateral Suturing in Thoracoscopic Diaphragmatic Hernia Repair

PubMed Central

Boo, Yoon Jung; Rohleder, Stephan; Muensterer, Oliver J.

2017-01-01

Background  Closure of the posterolateral defect in some cases of congenital diaphragmatic hernia (CDH) can be difficult. Percutaneous transcostal suturing is often helpful to create a complete, watertight closure of the diaphragm. A challenge with the technique is passing the needle out the same tract that it entered so that no skin is caught when the knots are laid down into the subcutaneous tissue. This report describes a novel technique using a Tuohy needle to percutaneously suture the posterolateral defect during thoracoscopic repair of CDH. Case  We report a case of a 6-week-old infant who presented with a CDH and ipsilateral intrathoracic kidney that was repaired using thoracoscopic approach. The posterolateral part of the defect was repaired by percutaneous transcostal suturing and extracorporeal knot tying. To assure correct placement of the sutures and knots, a Tuohy needle was used to guide the suture around the rib and out through the same subcutaneous tract. The total operative time was 145 minutes and there were no perioperative complications. The patient was followed up for 3 months, during which there was no recurrence. Conclusion  Our percutaneous Tuohy technique for closure of the posterolateral part of CDH enables a secure, rapid, and tensionless repair. PMID:28804698

A Novel Technique of Posterolateral Suturing in Thoracoscopic Diaphragmatic Hernia Repair.

PubMed

Boo, Yoon Jung; Rohleder, Stephan; Muensterer, Oliver J

2017-01-01

Background  Closure of the posterolateral defect in some cases of congenital diaphragmatic hernia (CDH) can be difficult. Percutaneous transcostal suturing is often helpful to create a complete, watertight closure of the diaphragm. A challenge with the technique is passing the needle out the same tract that it entered so that no skin is caught when the knots are laid down into the subcutaneous tissue. This report describes a novel technique using a Tuohy needle to percutaneously suture the posterolateral defect during thoracoscopic repair of CDH. Case  We report a case of a 6-week-old infant who presented with a CDH and ipsilateral intrathoracic kidney that was repaired using thoracoscopic approach. The posterolateral part of the defect was repaired by percutaneous transcostal suturing and extracorporeal knot tying. To assure correct placement of the sutures and knots, a Tuohy needle was used to guide the suture around the rib and out through the same subcutaneous tract. The total operative time was 145 minutes and there were no perioperative complications. The patient was followed up for 3 months, during which there was no recurrence. Conclusion  Our percutaneous Tuohy technique for closure of the posterolateral part of CDH enables a secure, rapid, and tensionless repair.

Subtotal obstruction of the male reproductive tract.

PubMed

Dohle, G R; van Roijen, J H; Pierik, F H; Vreeburg, J T M; Weber, R F A

2003-03-01

Bilateral obstruction of the male reproductive tract is suspected in men with azoospermia, normal testicular volume and normal FSH. A testicular biopsy is required to differentiate between an obstruction and a testicular insufficiency. Unilateral or subtotal bilateral obstructions and epididymal dysfunction may cause severe oligozoospermia in men with a normal spermatogenesis. However, information on spermatogenesis in oligozoospermic men is lacking, since testicular biopsy is not routinely performed. Men with a sperm concentration of <1 x 10(6) spermatozoa/ml were investigated for possible partial obstruction by performing a testicular biopsy under local anaesthesia. Spermatogenesis was determined by the Johnsen scoring method. A testicular biopsy was performed in 78 men with severe oligozoospermia. The medical history showed male accessory gland infection in 12.8%, previous hernia repair in 14.1% and a history of cryptorchidism in 12.8%. A normal or slightly disturbed spermatogenesis (Johnsen score >8) was present in 39/78 (50%) of the men. Hernia repair occurred more often in men with normal spermatogenesis. A varicocele was predominantly seen in men with a disturbed spermatogenesis. FSH was significantly lower ( P<0.0001) in men with normal spermatogenesis. Subtotal obstruction of the male reproductive tract is a frequent cause of severe oligozoospermia in men with a normal testicular volume and a normal FSH. In other cases, an epididymal dysfunction might explain the oligozoospermia in men with a normal testicular biopsy score.

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

PubMed

Macchiaroli, Annamaria; Kelberman, Daniel; Auriemma, Renata Simona; Drury, Suzanne; Islam, Lily; Giangiobbe, Sara; Ironi, Gabriele; Lench, Nicholas; Sowden, Jane C; Colao, Annamaria; Pivonello, Rosario; Cavallo, Luciano; Gasperi, Maurizio; Faienza, Maria Felicia

2014-01-25

Heterozygous de novo mutations in SOX2 have been reported in approximately 10-20% of patients with unilateral or bilateral anophthalmia or microphthalmia. An additional phenotype of hypopituitarism, with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, has been reported in patients carrying SOX2 alterations. We report a novel heterozygous mutation in the SOX2 gene in a male affected with congenital bilateral anophthalmia, hypogonadotrophic hypogonadism and growth hormone deficiency. The mutation we describe is a cytosine deletion in position 905 (c905delC) which causes frameshift and an aberrant C-terminal domain. Our report highlights the fact that subjects affected with eye anomalies and harboring SOX2 mutations are at high risk for gonadotropin deficiency, which has important implications for their clinical management. Copyright © 2013 Elsevier B.V. All rights reserved.

22q11.2 microduplication syndrome with congenital aural atresia: a family report.

PubMed

Boudewyns, An; van den Ende, Jenneke; Boiy, Tine; Van de Heyning, Paul; Declau, Frank

2012-06-01

22q11.2 microduplication syndrome is characterized by a large phenotypic variability including facial dysmorphism, developmental delay, and hearing loss. We describe a family in whom 5 of 11 children were affected by a unilateral or bilateral congenital aural atresia. Four of these 5 carried a 22q11.2 microduplication and had typical dysmorphic features. Computed tomography with 3-D reconstructions allowed for a detailed examination of the middle ear structures and classification of the atresia type. Audiometry revealed a moderately severe conductive hearing loss in accordance with the clinical and computed tomography findings. Detailed examination of the ear is warranted in patients with a 22q11.2 microduplication. When outer ear abnormalities are encountered, an additional workup including audiometry and computed tomography with 3-D reconstructions is required.

Unilateral Congenital Cataract: Clinical Profile and Presentation.

PubMed

Khokhar, Sudarshan; Jose, Cijin P; Sihota, Ramanjit; Midha, Neha

2018-03-01

To study the clinical profile and presentation of children with unilateral cataract. In this hospital-based, observational, cross-sectional study, patients 15 years of age or younger who presented with unilateral cataract were recruited. Cases of cataract secondary to causes such as trauma or uveitis were excluded. Age at detection and presentation, distance from the treatment center, presenting complaints, cataract morphology, and biometry were noted for each case. A total of 76 patients were recruited. Most patients presented with complaints of leukocoria. Persistent fetal vasculature accounted for 27.6% of cases and was the most common identifiable cause of cataract in this study. Subsequently, patients were divided into two groups: no persistent fetal vasculature (control) and persistent fetal vasculature. A male predominance was noted in both groups. The mean age at detection was 27.58 ± 37.02 and 6.17 ± 8.42 months and the mean age at presentation was 55.613 ± 45.21 and 14.83 ± 17.75 months in the control and persistent fetal vasculature groups, respectively. In the persistent fetal vasculature group, a significant difference was noted in the axial length, keratometry, and corneal diameter between the affected and normal eyes (P = .027, .00176, and .0114, respectively). In the control group, this difference was observed only in keratometry readings (P = .0464). The mean distance traveled by patients to reach the treatment center was 211 km. Persistent fetal vasculature is an important and less identified cause of unilateral cataract. A significant delay is noted in the detection and presentation of unilateral cataract. [J Pediatr Ophthalmol Strabismus. 2018;55(2):107-112.]. Copyright 2017, SLACK Incorporated.

[Evaluation of the diagnostic usefulness for ultrasonographic and echocardiographic lethal markers in fetal pulmonary hypoplasia. Analysis of 11 cases].

PubMed

Kieszek, S; Kaczmarek, P; Czichos, E; Respondek, M

1996-07-01

Results of ultrasonographic and echocardiographic studies of 11 fetuses were analysed retrospectively in relation to their pulmonary hypoplasia. Congenital malformations, quality of hydramnios and echocardiographical measurements of fetal chest were estimated. The best symptoms of pulmonary hypoplasia were: oligo/ahydramnios, absence of fetal breathing movements and malformations in fetal chest cavity (diaphragmatic hernia, cardiomegaly, hydrothorax). Systemic malformations were present in each case. The measurements such as CC, CA, HA, (CA-HA) x 100/CA were not accurate enough and we did not find any statistical differences between the control and the studied group. Finding several factors predisposing to lung hypoplasia means that its lethal form may be present in fetus.

Outcome of infants operated on for congenital pulmonary malformations.

PubMed

Calzolari, Flaminia; Braguglia, Annabella; Valfrè, Laura; Dotta, Andrea; Bagolan, Pietro; Morini, Francesco

2016-12-01

Patients operated on for congenital pulmonary malformations (CPM) have excellent survival rates, but little is known about long-term morbidity. Our aim is to report the sequelae in patients operated on for CPM in infancy and to define factors that may influence their outcome. All patients operated on for major congenital anomalies are followed in a dedicated outpatient program and evaluated at 6, 24, and 48 months of life (corrected for gestational age) and at school age at 4, 6, 8, and 12 years of life. The data are prospectively collected. Patients operated on for CPM and enrolled in the follow-up clinic between January 2004 and December 2010 are compared with a control group of term infants operated on for inguinal hernia, without other major congenital or acquired abnormalities. The two groups were compared for auxological, respiratory, and orthopedic outcome. In the study period, 76 consecutive patients with CPM attended our dedicated follow-up clinic. Eight non-operated patients were excluded from the study. Age at follow-up was 82.0 (56.1-103.7) months in CPM patients and 83.5 (75.2-90.4) months in controls (P = 0.79). Fifty-three patients with CPM (78%) had one or more clinical or radiological abnormality versus six (16%) control patients (OR [95%CI] 16.5 [5.8-47.2]; P < 0.0001). Over 50% of patients with CPM present long-term sequelae, regardless type of malformation. Therefore, long-term follow-up of patients operated on for CPM is recommended. Further studies are needed to define if, in asymptomatic patients, surgery may modify the natural history of CPM. Pediatr Pulmonol. 2016;51:1367-1372. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Crossed asymmetry in Russell-Silver syndrome.

PubMed Central

Qazi, Q H; Kassner, E G; Ganapathy, C

1977-01-01

Since the initial report by Silver et al (1953), more than 50 examples of the Russell-Silver syndrome have been reported. Unilateral congenital asymmetry of the extremities has been considered one of the major features of this disorder (Silver, 1964). We recently observed a child with otherwise typical features of the Russell-Silver syndrome who had enlargement of the right hand and of the left lower extremity. We know of no other recorded example of crossed asymmetry in this clinical entity. Images PMID:839508

Associated congenital anomalies among cases with Down syndrome.

PubMed

Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

2015-12-01

Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to which associated anomalies are most common in cases with DS with associated anomalies. In this study we observed a higher percentage of associated anomalies than in the other reported series as well as an increase in the incidence of duodenal atresia, urinary system anomalies, musculoskeletal system anomalies, and respiratory system anomalies, and a decrease in the incidence of anal atresia, annular pancreas, and limb reduction defects. In conclusion, we observed a high prevalence of total congenital anomalies and specific patterns of malformations associated with Down syndrome which emphasizes the need to evaluate carefully all cases with Down syndrome for possible associated major congenital anomalies. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Initial experience with the Sophono Alpha 1 osseointegrated implant.

PubMed

Escorihuela-García, Vicente; Llópez-Carratalá, Ignacio; Pitarch-Ribas, Ignacia; Latorre-Monteagudo, Emilia; Marco-Algarra, Jaime

2014-01-01

In the last several years, bone anchored hearing aids have proven to be useful in treating conductive and mixed unilateral or bilateral hearing loss, as well as for sensorineural unilateral hearing loss. The Sophono Alpha 1 model has the advantage of not requiring an abutment, with it being coupled by magnetism instead. We report the cases of 3 infants with congenital malformations of external and middle ear. Audiometry showed conductive hearing loss. All 3 patients were implanted with Alpha 1 model (Sophono). Patients evolved satisfactorily. After 30 days we applied the processor and the control audiometry showed a marked improvement of hearing thresholds, although without a complete closure of the gap. With minimal care, the skin over the implant remained in excellent condition, with a very satisfactory cosmetic outcome. Copyright © 2013 Elsevier España, S.L.U. y Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

Poland's syndrome: report of a variant.

PubMed Central

Legbo, Jacob Ndas

2006-01-01

Poland's syndrome is a rare congenital anomaly consisting of unilateral partial or total absence of a breast and/or pectoralis major muscle, and ipsilateral symbrachydactyly. Many structural and functional abnormalities have been described in association with the syndrome. However, only a few hemostatic disorders have been reported. The case of a 12-year-old secondary school girl with unilateral hypoplasia of the breast, absence of anterior axillary fold and absence of the pectoralis major muscle is hereby presented. She also had thrombocytopenia and several episodes of spontaneous bleeding from the ipsilateral anterior chest wall. She did well on medical treatment, with no recurrence of bleeding 10 months after treatment. The author is not aware of any previously reported case of Poland's syndrome associated with bleeding disorder in Africa. This case is presented to alert clinicians of its existence and possible association with hematological disorders. Images Figure 1 PMID:16532987

Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients.

PubMed

Kopyta, Ilona; Jamroz, Ewa; Kluczewska, Ewa; Sarecka-Hujar, Beata

2014-04-01

Schizencephaly is a rare and severe congenital brain defect. Its etiology is not unequivocal and its clinical course differs with every case. The aim of the study was to analyze correlations between clinical and radiologic features of schizencephaly in Polish patients. The study group consisted of 25 children. Epileptic seizures were observed in 60% of cases and in 32% epilepsy was drug resistant. Generalized hypotonia was found in 24%, spastic diparesis in 48%, and spastic hemiparesis in 28% of cases. Seizures were more frequent in the bilateral than unilateral schizencephaly subgroup (72% vs 29%, P = .045). There was a correlation between the presence of the bilateral type II schizencephaly and the occurrence of seizures (P = .002, r = 0.578). There is a correlation between the type of schizencephaly and the presence of seizures in Polish pediatric patients. In most of the patients, schizencephaly leads to developmental retardation and epileptic seizures.

[New treatment concept for children with thoracic insufficiency syndrome due to congenital spine deformity].

PubMed

Hell, A K; Campbell, R M; Hefti, F

2005-01-01

Children with congenital thoracic scoliosis associated with fused ribs and unilateral unsegmented bars adjacent to convex hemivertebrae will inevitably develop thoracic insufficiency syndrome and curve progression with hemithorax compression without treatment. It is assumed that the concave side of such curves and their unilateral unsegmented bars do not grow. In the past early spinal fusion was performed with consecutive short thoracic spines and loss of lung volume. Little attention has been paid to lung function. These patients often suffered from lung failure and early death due to a small thorax. A new surgical technique is based on an indirect deformity correction and enlargement of the thorax due to a longitudinal implant, the vertical expandable prosthetic titanium rib (VEPTR). The spine is not fused, thus promoting growth of the spine, the thorax and the lungs. Elongation of the implant is done every six months. Since 2002 this method has been performed on fifteen children in Basel as the first European center. Patients (mean age 6 years; 11 months to 12 years) were suffering from thoracic insufficiency syndrome due to unilateral unsegmented bars with fused ribs (n = 4), absent ribs (n = 2), bilaterally fused ribs (n = 2), hemivertebrae (n = 3) or neuromuscular scoliosis (n = 6). Doing fifteen primarily implantations and thirteen elongations there were three complications (two hook dislocations, one skin breakage). All patients improved cosmetically, functionally and radiologically which was shown on X-rays as a reduction of the Cobb angle from an average of 76 degrees (40-110 degrees ) to 55 degrees (30-67 degrees ). Expansion thoracoplasty and VEPTR implantation is a new treatment concept for children with thoracic insufficiency syndrome due to spinal deformities, which is based on distraction and expansion of the thorax thus allowing growth of the spine, the thorax and probably lungs. Presently it seems to be superior to any other method for the treatment of small children with progressive scoliosis and thoracic insufficiency syndrome.

Unilateral congenital elongation of the cervical part of the internal carotid artery with kinking and looping: two case reports and review of the literature

PubMed Central

Ovchinnikov, Nikolai A; Rao, Ramesh T; Rao, Suresh R

2007-01-01

Unilateral and bilateral variation in the course and elongation of the cervical (extracranial) part of the internal carotid artery (ICA) leading to its tortuosity, kinking and coiling or looping is not a rare condition, which could be caused by both embryological and acquired factors. Patients with such variations may be asymptomatic in some cases; in others, they can develop cerebrovascular symptoms due to carotid stenosis affecting cerebral circulation. The risk of transient ischemic attacks in patients with carotid stenosis is high and its surgical correction is indicated for the prevention of ischemic stroke. Detection of developmental variations of the ICA and evaluation of its stenotic areas is very important for surgical interventions and involves specific diagnostic imaging techniques for vascular lesions including contrast arteriography, duplex ultrasonography and magnetic resonance angiography. Examination of obtained images in cases of unusual and complicated variations of vascular pattern of the ICA may lead to confusion in interpretation of data. Awareness about details and topographic anatomy of variations of the ICA may serve as a useful guide for both radiologists and vascular surgeons. It may help to prevent diagnostic errors, influence surgical tactics and interventional procedures and avoid complications during the head and neck surgery. Our present study was conducted with a purpose of updating data about developmental variations of the ICA. Dissections of the main neurovascular bundle of the head and neck were performed on a total 14 human adult cadavers (10 – Africans: 7 males & 3 females and 4 – East Indians: all males). Two cases of unilateral congenital elongation of the cervical part of the ICA with kinking and looping and carotid stenoses were found only in African males. Here we present their detailed case reports with review of the literature. PMID:17650347

Combination of unilateral polydactyly, syndactyly, and clinodactyly with occipitocervical encephalocele and vertebral fusion.

PubMed

de Chalain, T; Hudgins, R; Burstein, F; Armfield, K

1994-07-01

This report describes a 6-year-old Mexican boy presenting with inter alia, hitherto unrepaired cervical encephalocele and associated unilateral syndactyly. There was also ipsilateral clinodactyly of the thumb and possible polydactyly of the foot. In addition, there was unilateral fusion of the first and second cervical vertebrae and a Chiari type III malformation. Motor and language skills were grossly normal for age, with the exception of mild left hemiparesis affecting the arm more than the leg. Medical history was significant for incidental drainage from the encephalocele as well as occasional high fevers and possible episodes of central nervous system infection. The clinical findings were not consistent with Meckel-Gruber or any other well-recognized syndrome. It is our contention that this case documents a previously unreported constellation of congenital anomalies and, as such, may suggest a teratological insult or a new syndrome. Surgical repair was carried out with meticulous excision of dysplastic neural tissue, relocation of neural tissue within the thecal sac, and coverage of the repair site with a trapezius muscle flap. Skin was closed directly. Postoperative recovery was largely uneventful, with the exception of a seroma in the donor muscle bed.

Familial testicular germ cell tumor: no associated syndromic pattern identified

PubMed Central

2014-01-01

Background Testicular germ cell tumor (TGCT) is the most common malignancy in young men. Familial clustering, epidemiologic evidence of increased risk with family or personal history, and the association of TGCT with genitourinary (GU) tract anomalies have suggested an underlying genetic predisposition. Linkage data have not identified a rare, highly-penetrant, single gene in familial TGCT (FTGCT) cases. Based on its association with congenital GU tract anomalies and suggestions that there is an intrauterine origin to TGCT, we hypothesized the existence of unrecognized dysmorphic features in FTGCT. Methods We evaluated 38 FTGCT individuals and 41 first-degree relatives from 22 multiple-case families with detailed dysmorphology examinations, physician-based medical history and physical examination, laboratory testing, and genitourinary imaging studies. Results The prevalence of major abnormalities and minor variants did not significantly differ between either FTGCT individuals or their first-degree relatives when compared with normal population controls, except for tall stature, macrocephaly, flat midface, and retro-/micrognathia. However, these four traits were not manifest as a constellation of features in any one individual or family. We did detect an excess prevalence of the genitourinary anomalies cryptorchidism and congenital inguinal hernia in our population, as previously described in sporadic TGCT, but no congenital renal, retroperitoneal or mediastinal anomalies were detected. Conclusions Overall, our study did not identify a constellation of dysmorphic features in FTGCT individuals, which is consistent with results of genetic studies suggesting that multiple low-penetrance genes are likely responsible for FTGCT susceptibility. PMID:24559313

"Serpentine-like syndrome"-A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies.

PubMed

Beleza-Meireles, Ana; Steenhaut, Patricia; Hocq, Catheline; Clapuyt, Philippe; Bernard, Pierre; Debauche, Christian; Sznajer, Yves

2017-02-01

"Serpentine-like syndrome" is a severe and rare association of multiple congenital malformations, characterised by brachioesophagus, secondary intrathoracic stomach, and vertebral anomalies. Other associated anomalies have been described, such as malposition and herniation of abdominal organs. We report the natural history of a baby girl born at 29 weeks of gestation with intra uterine growth restriction, short neck, large rachischisis from cervical to thoracic spine, a very short oesophagus, thoracic stomach associated with a midline diaphragmatic hernia, malrotated gut and median cleft lip. Most of these anomalies were detected antenatally. Molecular karyotype was normal. She died at age 12 days. To our knowledge, the present patient represents the 8th report of a case of "Serpentine-like syndrome". Brachioesophagus and congenital vertebral anomalies, in particular rachischisis, are the cardinal features of this condition. All reported cases have been sporadic and the cause is still unknown. We believe that the specificity of the presentation as well as the similarities between available descriptions of patients suggests a common, yet to identify, molecular cause, possibly involving a developmental "toolkit"/homeobox gene or related pathways. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Surgical repair of a congenital sternal cleft in a cat.

PubMed

Schwarzkopf, Ilona; Bavegems, Valerie C A; Vandekerckhove, Peter M F P; Melis, Sanne M; Cornillie, Pieter; de Rooster, Hilde

2014-07-01

To describe the clinical findings, diagnosis, and treatment of an incomplete cleft of the 5th-8th sternebra and a cranioventral abdominal wall hernia in a 2 month old Ragdoll kitten and to evaluate the short- and long-term outcome. Clinical report. Ragdoll cat (n = 1), 2 months old. Sternal cleft was confirmed by thoracic radiographs. Computed tomography (CT) was used to plan an optimal surgical approach. A ventral median incision was made, starting at the 3rd sternebra and extended into the abdomen. Ostectomy of the proximal part of the 5th left sternebra was performed. Lateral periosteal flaps were created, unfolded, and absorbable monofilament sutures preplaced to facilitate closure and the repair was reinforced by 2 peristernal sutures. A bone graft was applied, and the free margin of the omentum was sutured to the cranial aspect of the wound. No major complications occurred. At 3 weeks, CT scan confirmed approximation of the hemisternebrae and at 10 months, complete fusion of the hemisternebrae had not occurred, but a strong connection of the sternal bars was present. Sternal cleft is a rare congenital abnormality that can be corrected surgically with favorable outcome. © Copyright 2014 by The American College of Veterinary Surgeons.

Sternal Cleft Associated with Cantrell's Pentalogy in a German Shepherd Dog.

PubMed

Benlloch-Gonzalez, Manuel; Poncet, Cyrill

2015-01-01

A 5 mo old male German shepherd dog weighing 15.5 kg was presented with an abdominal wall hernia and exercise intolerance. Physical examination showed a grade II/VI systolic heart murmur and an area of cutaneous atrophy overlying a midline supraumbilical wall defect. Thoracic radiography, computed tomography, and ultrasound examination revealed a congenital caudal sternal cleft, a supraumbilical diastasis rectus, and a patent ductus arteriosus. Exploratory surgery confirmed defects of the pars sternalis of the diaphragm and caudoventral pericardium and a persistent left cranial vena cava. Those findings were compatible with Cantrell's pentalogy. Surgical treatment included ligation of the patent ductus arteriosus through the sternal cleft, diaphragmatic reconstruction with paracostal extension of the diaphragmatic defect, pericardial and linea alba appositional reconstruction, and primary approximation of the sternal halves. Growth and exercise activity were normal 10 mo after surgery. The discovery of a midline cranial abdominal wall, pericardial, diaphragmatic, or sternal defect should prompt a thorough examination to rule out any possible associated syndrome. Cantrell's pentalogy presents various degrees of expression and is rare in dogs. Management involves early surgical repair of congenital anomalies to protect the visceral structures. The prognosis in dogs with mild forms of the syndrome is encouraging.

[Pulmonary hypoplasia: An analysis of cases over a 20-year period].

PubMed

Delgado-Peña, Yanny Paola; Torrent-Vernetta, Alba; Sacoto, Gabriela; de Mir-Messa, Inés; Rovira-Amigo, Sandra; Gartner, Silvia; Moreno-Galdó, Antonio; Molino-Gahete, José Andrés; Castillo-Salinas, Felíx

2016-08-01

Pulmonary hypoplasia is the most frequent congenital anomaly associated with perinatal mortality. A retrospective and descriptive review was conducted on cases of patients diagnosed with pulmonary hypoplasia between 1995 and 2014 in a tertiary university hospital. An analysis was made of the prenatal imaging, clinical manifestations, post-natal diagnostic tests, treatment and management, long-term follow up, and survival data. A total of 60 cases were identified, all of them with prenatal imaging. Sixteen patients required foetal surgery. Congenital diaphragmatic hernia was the most frequent diagnosis. Main clinical presentation was respiratory distress with severe hypoxemia and high requirements of mechanical ventilation. Mortality rate was 47% within first 60 days of life, and 75% for the first day of life. Pneumonia and recurrent bronchitis episodes were observed during follow-up. They had a lung function obstructive pattern, and their quality of life and exercise tolerance was good. High neonatal mortality and significant long-term morbidity associated with pulmonary hypoplasia requires an early diagnosis and a specialised multidisciplinary team management. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

[Preliminary results in the correction of the pectus excavatum with the Acastello modified Welch technique].

PubMed

Lorenzo, G R; Gutiérrez Dueñas, J M; Ardela, E; Martín Pinto, F

2011-10-01

Congenital malformations of the chest wall are a heterogeneous group of diseases affecting the costal cartilage, ribs, sternum, scapula and clavicle. The pectus excavatum is characterized by a posterior depression of the sternum. Acastello-Welch technique consists in a partial resection of the costal cartilages adding some bars or plates unilaterally fixed to the sternum in each hemithorax. From October 2008 to March 2011 we evaluated 108 patients with congenital malformations of the chest wall. Forty-seven patients (44%) had a pectus excavatum and 12 were treated with Acastello-Welch technique. There were no intraoperative complications. After a mean follow up of 27 months, correction of the deformity was very satisfactory both objective and subjective for patients. The Welch thoracoplasty modified by Acastello is a good option for the correction of the pectus excavatum associating little morbidity and good esthetic outcomes.

The masseteric nerve: a versatile power source in facial animation techniques.

PubMed

Bianchi, B; Ferri, A; Ferrari, S; Copelli, C; Salvagni, L; Sesenna, E

2014-03-01

The masseteric nerve has many advantages including low morbidity, its proximity to the facial nerve, the strong motor impulse, its reliability, and the fast reinnervation that is achievable in most patients. Reinnervation of a neuromuscular transplant is the main indication for its use, but it has been used for the treatment of recent facial palsies with satisfactory results. We have retrospectively evaluated 60 patients who had facial animation procedures using the masseteric nerve during the last 10 years. The patients included those with recent, and established or congenital, unilateral and bilateral palsies. The masseteric nerve was used for coaptation of the facial nerve either alone or in association with crossfacial nerve grafting, or for the reinnervation of gracilis neuromuscular transplants. Reinnervation was successful in all cases, the mean (range) time being 4 (2-5) months for facial nerve coaptation and 4 (3-7) months for neuromuscular transplants. Cosmesis was evaluated (moderate, n=10, good, n=30, and excellent, n=20) as was functional outcome (no case of impairment of masticatory function, all patients able to smile, and achievement of a smile independent from biting). The masseteric nerve has many uses, including in both recent, and established or congenital, cases. In some conditions it is the first line of treatment. The combination of combined techniques gives excellent results in unilateral palsies and should therefore be considered a valid option. Copyright © 2014 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Prognostic factors of a satisfactory functional result in patients with unilateral amputations of the upper limb above the wrist that use an upper limb prosthesis.

PubMed

Dabaghi-Richerand, A; Haces-García, F; Capdevila-Leonori, R

2015-01-01

The purpose of this study is to determine the prognostic factors of a satisfactory functional outcome in patients using upper extremity prosthetics with a proximal third forearm stump, and above, level of amputation. All patients with longitudinal deficiencies and traumatic amputations of upper extremity with a level of amputation of proximal third forearm and above were included. A total of 49 patients with unilateral upper extremity amputations that had used the prosthetic for a minimum of 2 years were included in the protocol. The Disability arm shoulder hand (DASH) scale was used to determine a good result with a cut-off of less than 40%. The independent variables were the level of amputation, the etiology for its use, initial age of use and number of hours/day using the prosthesis. It was found that patients with a congenital etiology and those that started using the prosthetic before 6 years of age had better functional results. It was found that when adapting a patient with an upper extremity prosthetic, which has a high rejection rate of up to 49%, better functional outcomes are found in those who started using it before 6 years of age, and preferably because of a congenital etiology. It was also found that the number of hours/day strongly correlates with a favorable functional outcome. Copyright © 2014 SECOT. Published by Elsevier Espana. All rights reserved.

Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report.

PubMed

Lamine, Faïza; Kanoun, Faouzi; Chihaoui, Melika; Saveanu, Alexandru; Menif, Emna; Barlier, Anne; Enjalbert, Alain; Brue, Thierry; Slimane, Hédia

2012-12-01

Agenesis of internal carotid artery (ICA) is an unusual finding in subjects with congenital Combined Pituitary hormone deficiency (CPHD) with only nine cases being reported to date but to our best knowledge none of them was genetically investigated. A 10-years old girl presented with severe growth failure (height 103 cm) with substantial bone age delay (3 years). She had no history of perinatal insults or familial CPHD. There was no evidence of mental retardation or craniofacial dysmorphism or ophtalmological abnormalities. She was first diagnosed with GH and TSH deficiency. Cerebral magnetic resonance imaging (MRI) showed hypoplastic anterior pituitary, flat sella turcica, absent pituitary stalk with ectopic posterior pituitary as well as agenesis of the left ICA and the left carotid canal. Genomic analysis of pituitary transcription factor HESX1, LHX4 and OTX2 showed no mutations. Treatment with GH and thyroxine was started. The patient remained free of neurovascular symptoms for 5 years but she presented at the age of 15 years with delayed puberty related to an evolving gonadotropin deficiency. ICA agenesis associated with CPHD is unusual and is often asymptomatic in children. Since the CPHD with pituitary stalk interruption cannot be due to HESX1, LHX4 or OTX2 mutation in our case, other pathogenetic mechanisms may be responsible for CPHD associated with unilateral ICA agenesis.

Two types of exercise-induced neuroplasticity in congenital hemiparesis: a transcranial magnetic stimulation, functional MRI, and magnetoencephalography study.

PubMed

Juenger, Hendrik; Kuhnke, Nicola; Braun, Christoph; Ummenhofer, Frank; Wilke, Marko; Walther, Michael; Koerte, Inga; Delvendahl, Igor; Jung, Nikolai H; Berweck, Steffen; Staudt, Martin; Mall, Volker

2013-10-01

Early unilateral brain lesions can lead to a persistence of ipsilateral corticospinal projections from the contralesional hemisphere, which can enable the contralesional hemisphere to exert motor control over the paretic hand. In contrast to the primary motor representation (M1), the primary somatosensory representation (S1) of the paretic hand always remains in the lesioned hemisphere. Here, we report on differences in exercise-induced neuroplasticity between individuals with such ipsilateral motor projections (ipsi) and individuals with early unilateral lesions but 'healthy' contralateral motor projections (contra). Sixteen children and young adults with congenital hemiparesis participated in the study (contralateral [Contra] group: n=7, four females, three males; age range 10-30y, median age 16y; ipsilateral [Ipsi] group: n=9, four females, five males; age range 11-31y, median age 12y; Manual Ability Classification System levels I to II in all individuals in both groups). The participants underwent a 12-day intervention of constraint-induced movement therapy (CIMT), consisting of individual training (2h/d) and group training (8h/d). Before and after CIMT, hand function was tested using the Wolf Motor Function Test (WMFT) and diverging neuroplastic effects were observed by transcranial magnetic stimulation (TMS), functional magnetic resonance imaging (fMRI), and magnetoencephalography (MEG). Statistical analysis of TMS data was performed using the non-parametric Wilcoxon signed-rank test for pair-wise comparison; for fMRI standard statistical parametric and non-parametric mapping (SPM5, SnPM3) procedures (first level/second level) were carried out. Statistical analyses of MEG data involved analyses of variance (ANOVA) and t-tests. While MEG demonstrated a significant increase in S1 activation in both groups (p=0.012), TMS showed a decrease in M1 excitability in the Ipsi group (p=0.036), but an increase in M1 excitability in the Contra group (p=0.043). Similarly, fMRI showed a decrease in M1 activation in the Ipsi group, but an increase in activation in the M1-S1 region in the Contra group (for both groups p<0.001 [SnPM3] within the search volume). Different patterns of sensorimotor (re)organization in individuals with early unilateral lesions show, on a cortical level, different patterns of exercise-induced neuroplasticity. The findings help to improve the understanding of the general principles of sensorimotor learning and will help to develop more specific therapies for different pathologies in congenital hemiparesis. © 2013 Mac Keith Press.

Dissociative phenomena in congenital monocular elevation deficiency.

PubMed

Olson, R J; Scott, W E

1998-04-01

Monocular elevation deficiency is characterized by unilateral limitation of elevation in both adduction and abduction and is usually present at birth. Dissociative phenomena such as dissociated vertical deviation are well recognized in association with conditions such as congenital esotropia but much less so in association with conditions such as congenital monocular elevation deficiency. All 129 patients given the diagnosis of monocular elevation deficiency or double elevator palsy in the Pediatric Ophthalmology and Strabismus Clinic at the University of Iowa Hospitals and Clinics between 1971 and 1995 were reviewed. After those with history of trauma, myasthenia gravis, thyroid eye disease, orbital lesions, Brown syndrome, or monocular elevation deficiency with acquired onset were excluded, 31 patients with congenital monocular elevation deficiency remained for retrospective study. First diagnosed at median age 2.6 years (although all were noted by parents at less than 6 months of age) with mean follow-up of 5.0 years (up to 15.5 years), 9 of 31 (29%) developed dissociated vertical deviation in the eye with monocular elevation deficiency, all of whom had undergone strabismus surgery 0 to 9.7 years previously (mean 3.5 years). Those who developed dissociated vertical deviation were generally younger, were followed up longer, and had more accompanying horizontal strabismus than did those who did not develop dissociated vertical deviation. The results did not reach significance. The current study demonstrates that dissociated vertical deviation occurs in association with monocular elevation deficiency.

Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication.

PubMed

Giri, Dinesh; Patil, Prashant; Hart, Rachel; Didi, Mohammed; Senniappan, Senthil

2017-01-01

Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated with abnormalities of musculoskeletal structures. A baby girl, born at 40 weeks' gestation with birth weight of 3.33 kg (-0.55 SDS) had typical phenotypical features of PS. She had recurrent hypoglycaemic episodes early in life requiring high concentration of glucose and glucagon infusion. The diagnosis of congenital hyperinsulinism (CHI) was biochemically confirmed by inappropriately high plasma concentrations of insulin and C-peptide and low plasma free fatty acids and β-hydroxyl butyrate concentrations during hypoglycaemia. Sequencing of ABCC8 , KCNJ11 and HNF4A did not show any pathogenic mutation. Microarray analysis revealed a novel duplication in the short arm of chromosome 10 at 10p13-14 region. This is the first reported case of CHI in association with PS and 10p duplication. We hypothesise that the HK1 located on the chromosome 10 encoding hexokinase-1 is possibly linked to the pathophysiology of CHI. Congenital hyperinsulinism (CHI) is known to be associated with various syndromes.This is the first reported association of CHI and Poland syndrome (PS) with duplication in 10p13-14.A potential underlying genetic link between 10p13-14 duplication, PS and CHI is a possibility.

Laparoscopic inguinal hernia repair by the hook method in emergency setting in children presenting with incarcerated inguinal hernia.

PubMed

Chan, Kin Wai Edwin; Lee, Kim Hung; Tam, Yuk Him; Sihoe, Jennifer Dart Yin; Cheung, Sing Tak; Mou, Jennifer Wai Cheung

2011-10-01

The development of laparoscopic hernia repair has provided an alternative approach to the management of incarcerated inguinal hernia in children. Different laparoscopic techniques for hernia repair have been described. However, we hereby review the role of laparoscopic hernia repair using the hook method in the emergency setting for incarcerated inguinal hernias in children. A retrospective review was conducted of all children who presented with incarcerated inguinal hernia and underwent laparoscopic hernia repair using the hook method in emergency setting between 2004 and 2010. There were a total of 15 boys and 1 girl with a mean age of 30 ± 36 months (range, 4 months to 12 years). The hernia was successfully reduced after sedation in 7 children and after general anesthesia in 4 children. In 5 children, the hernia was reduced by a combined manual and laparoscopic-assisted approach. Emergency laparoscopic inguinal hernia repair using the hook method was performed after reduction of the hernia. The presence of preperitoneal fluid secondary to recent incarceration facilitated the dissection of the preperitoneal space by the hernia hook. All children underwent successful reduction and hernia repair. The median operative time was 37 minutes. There was no postoperative complication. The median hospital stay was 3 days. At a median follow-up of 40 months, there was no recurrence of the hernia or testicular atrophy. Emergency laparoscopic inguinal hernia repair by the hook method is safe and feasible. Easier preperitoneal dissection was experienced, and repair of the contralateral patent processus vaginalis can be performed in the same setting. Copyright © 2011 Elsevier Inc. All rights reserved.

Prevalence of Inguinal Hernia in Adult Men in the Ashanti Region of Ghana.

PubMed

Ohene-Yeboah, Michael; Beard, Jessica H; Frimpong-Twumasi, Benjamin; Koranteng, Adofo; Mensah, Samuel

2016-04-01

Inguinal hernia is thought to be common in rural Ghana, though no recent data exist on hernia prevalence in the country. This information is needed to guide policy and increase access to safe hernia repair in Ghana and other low-resource settings. Adult men randomly selected from the Barekese sub-district of Ashanti Region, Ghana were examined by surgeons for the presence of inguinal hernia. Men with hernia completed a survey on demographics, knowledge of the disease, and barriers to surgical treatment. A total of 803 participants were examined, while 105 participants completed the survey. The prevalence of inguinal hernia was 10.8 % (95 % CI 8.0, 13.6 %), and 2.2 % (95 % CI 0, 5.4 %) of participants had scars indicative of previous repair, making the overall prevalence of treated and untreated inguinal hernia 13.0 % (95 % CI 10.2, 15.7 %). Prevalence of inguinal hernia increased with age; 35.4 % (95 % CI 23.6, 47.2 %) of men aged 65 and older had inguinal hernia. Untreated inguinal hernia was associated with lower socio-economic status. Of those with inguinal hernia, 52.4 % did not know the cause of hernia. The most common reason cited for failing to seek medical care was cost (48.2 %). Although inguinal hernia is common among adult men living in rural Ghana, surgical repair rates are low. We propose a multi-faceted public health campaign aimed at increasing access to safe hernia repair in Ghana. This approach includes a training program of non-surgeons in inguinal hernia repair headed by the Ghana Hernia Society and could be adapted for use in other low-resource settings.

Amyand's hernia: A case report and review of the literature.

PubMed

Shaban, Youssef; Elkbuli, Adel; McKenney, Mark; Boneva, Dessy

2018-05-07

An Amyand hernia is a rare disease where the appendix is found within an inguinal hernia sac. This rare entity is named after the French born English surgeon, Dr. Claudius Amyand. Inguinal hernias are one of the most common surgeries that a general surgeon performs with more than 20 million inguinal hernia repairs performed yearly worldwide. The incidence of finding an appendix within the hernia sac is rare, occurring in less than 1% of inguinal hernia patients and when complications arise such as inflammation, perforation, or abscess formation it becomes exceptionally rare with an incidence of about 0.1%. A 59-year-old male with a history of a previously reducible right inguinal hernia presented to the Emergency Department with acute abdominal pain, right groin mass. Computed tomography (CT) confirmed a right incarcerated inguinal hernia with herniated loops of bowel within the right inguinal region. Patient was subsequently treated with an appendectomy and tension free hernia repair with mesh with a successful outcome. The current generally accepted treatment algorithm for Amyand's hernia is essentially contingent on the appendix's condition within the hernia sac. Controversy exists regarding the application of mesh in type 2 Amyand's hernia. More research is needed to provide surgeons with evidence-based standardized approaches for dealing with this unique situation. This case report reviews a rare entity known as an Amyand's hernia that presented as an incarcerated hernia that was diagnosed intraoperatively with an inflamed appendix, recognized as a type 2 Amyand's hernia. Copyright © 2018 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Acute appendicitis with unusual dual pathology.

PubMed

Riddiough, Georgina E; Bhatti, Imran; Ratliff, David A

2012-01-01

Meckel's diverticulum is a rare congenital abnormality arising due to the persistence of the vitelline duct in 1-3% of the population. Clinical presentation is varied and includes rectal bleeding, intestinal obstruction, diverticulitis and ulceration; therefore diagnosis can be difficult. We report a case of acute appendicitis complicated by persistent post operative small bowel obstruction. Further surgical examination of the bowel revealed an non-inflamed, inverted Meckel's diverticulum causing intussusception. Intestinal obstruction in patients with Meckel's diverticulum may be caused by volvulus, intussusception or incarceration of the diverticulum into a hernia. Obstruction secondary to intussusception is relatively uncommon and frequently leads to a confusing and complicated clinical picture. Consideration of Meckel's diverticulum although a rare diagnosis is imperative and this case raises the question "should surgeons routinely examine the bowel for Meckel's diverticulum at laparoscopy?"

[Czech eponyms in pathology].

PubMed

Steiner, Ivo

2013-01-01

The 24th European Congress of Pathology taking place in Prague is an opportunity to remind our society of the Czech names appearing as eponyms in pathological terminology: Karel Rokitanský - R. protuberance in dermoid cyst; R. thrombogenic theory of atherosclerosis; Mayer - R. - Küster - Hauser - Winckel syndrome (congenital malformation of the vagina and uterus); Václav Treitz - T. duodenal ligament; T. retroperitoneal hernia; T. uremic colitis; Vilém Dušan Lambl - L. excrescences of heart valves; Lamblia (Giardia) intestinalis, and also the foundation of urological cytology; Stanislav Provázek - Prowazek - Halberstädter bodies (trachoma), Rickettsia Prowazeki (typhus fever); Josef Vaněk - V. tumor (gastric inflammatory fibroid polyp), and also discovery of the etiology of pneumocystic pneumonia; Otto Jírovec - Pneumocystis Jiroveci; Blahoslav Bednář - B. tumor (pigmented dermatofibrosarcoma protuberans).

Acute ECG changes and chest pain induced by neck motion in patients with cervical hernia--a case report.

PubMed

Güler, N; Bilge, M; Eryonucu, B; Cirak, B

2000-10-01

We report two cases of acute cervical angina and ECG changes induced by anteflexion of the head. Cervical angina is defined as chest pain that resembles true cardiac angina but originates from cervical discopathy with nerve root compression. In these patients, Prinzmetal's angina, valvular heart disease, congenital heart disease, left ventricular aneurysm, and cardiomyopathy were excluded. After all, the patient's chest pain was reproduced by anteflexion of head, at this time, their ECGs showed nonspecific ST-T changes in the inferior and anterior leads different from the basal ECG. ECG changes returned to normal when the patient's neck moved to the neutral position. To our knowledge, these are the first cases of cervical angina associated with acute ECG changes by neck motion.

The role of primary myogenic regulatory factors in the developing diaphragmatic muscle in the nitrofen-induced diaphragmatic hernia.

PubMed

Dingemann, Jens; Doi, Takashi; Ruttenstock, Elke; Puri, Prem

2011-06-01

The nitrofen model of congenital diaphragmatic hernia (CDH) is widely used to investigate the pathogenesis of CDH. However, the exact pathomechanism of the diaphragmatic defect is still unclear. Diaphragmatic muscularization represents the last stage of diaphragmatic development. Myogenic differentiation 1 (MyoD) and myogenic factor 5 (Myf5) play a crucial role in muscularization. MyoD(-/-) : Myf5(+/-) mutant mice show reduced diaphragmatic size, whereas MyoD(+/-) : Myf5(-/-) mutants have normal diaphragms. We designed this study to investigate diaphragmatic gene expression of MyoD and Myf5 in the nitrofen CDH model. Pregnant rats received nitrofen or vehicle on day 9 of gestation (D9), followed by cesarean section on D18 and D21. Fetal diaphragms (n = 40) were micro-dissected and divided into CDH group and controls. MyoD and Myf5 mRNA-expression were determined using Real-time PCR. Immunohistochemistry was performed to evaluate protein expression of MyoD and Myf5. Relative diaphragmatic mRNA expression levels and immunoreactivity of MyoD were decreased in the CDH group on D18 and D21. Myf 5 mRNA and protein expression were not altered in the CDH group. This is the first study showing that MyoD expression is selectively decreased in the diaphragm muscle in the nitrofen model of CDH.

Effect of nitrofen in the final stages of development of the diaphragm muscle in rats.

PubMed

Gonçalves, Frances Lilian Lanhellas; Oliveira, Fábio Santana de; Schmidt, Augusto Frederico; Pereira, Luís Antônio Violin Dias; Gallindo, Rodrigo Melo; Figueira, Rebeca Lopes; Sbragia, Lourenço

2013-01-01

To evaluate the expression of myosin in muscle fibers of the diaphragm in experimental congenital diaphragmatic hernia (CDH). Fetuses of pregnant rats were divided into four groups: External Control (EC), composed of non-manipulated rats; Nitrofen, composed of pregnant rats that received 100 mg of nitrofen (2,4-dichloro-4'nitrodiphenyl ether) diluted in olive oil on gestational day (GD) 9.5, whose fetuses developed CDH (N+) or not (N-), and Olive Oil Placebo (OO), composed of pregnant rats that received the oil on the same GD. The fetuses were collected on GD 18.5, 19.5, 20.5 and 21.5 (term = 22 days). We obtained body weight (BW) and photographed the diaphragm area (DA), hernia area (HA) and subsequent calculated the HA/DA ratio in N+ group. Samples of Diaphragm muscle were processed for histological staining with H/E and immunohistochemistry (IHQ) for myosin. The fetuses of N- and N+ groups had decreased BW and DA compared to EC and OO groups (p < 0.001). HA was decreased on GD 18.5 compared to 21.5 (p < 0.001) and the HA/DA ratio showed no difference. IHQ showed decreased expression of myosin in nitrofen groups. CDH induced by nitrofen model contributes to the understanding of muscularization in the formation of the diaphragm where the myosin expression is decreased.

Management of perineal ectopic testes.

PubMed

Nouira, Faouzi; Ben Ahmed, Yosra; Jlidi, Said; Sarrai, Nadia; Chariag, Awatef; Ghorbel, Soufiane; Khemakhem, Rachid; Chaouachi, Beji

2011-01-01

Perineal ectopic testis (PET) is a rare congenital anomaly in which the testis is abnormally situated between the penoscrotal raphe and the genitofemoral fold. we report six patients treated for PET. The epidemiological, clinical, radiological and therapeutic aspects of this rare entity are discussed in light of data of the literature. Between 2000 and 2009, six patients (0, 2%) treated for PET were diagnosed among 2156 patients operated upon for undescended testes in unity of paediatric surgery in Tunis children's hospital. The mean age was 21+/- 25 months. The abnormality was associated with an inguinal hernia in two cases. The diagnosis was based on the presence of an empty scrotum or perineal swelling. In all, orchidopexy in a dartos pouch was easily performed through an inguinal skin crease incision.The length of the testicular vessels and vas deferens was adequate with a favourable course in every case. Although the complications of undescended testes are the same as for PET, the timing of surgery should be different. It is generally accepted that children must not be below 6 months of age for surgical correction of undescended testes, but there is no need to delay surgery in PET, which can easily be diagnosed by physical examination in the neonatal period. Surgery is indicated even if there is no hernia present. The functional prognosis, always difficult to define, appears to be identical to that of other sites.

Incarcerated Pediatric Hernias.

PubMed

Abdulhai, Sophia A; Glenn, Ian C; Ponsky, Todd A

2017-02-01

Indirect inguinal hernias are the most commonly incarcerated hernias in children, with a higher incidence in low birth weight and premature infants. Contralateral groin exploration to evaluate for a patent processus vaginalis or subclinical hernia is controversial, given that most never progress to clinical hernias. Most indirect inguinal hernias can be reduced nonoperatively. It is recommended to repair them in a timely fashion, even in premature infants. Laparoscopic repair of incarcerated inguinal hernia repair is considered a safe and effective alternative to conventional open herniorrhaphy. Other incarcerated pediatric hernias are extremely rare and may be managed effectively with laparoscopy. Copyright © 2016 Elsevier Inc. All rights reserved.

Current trends in laparoscopic groin hernia repair: A review

PubMed Central

Pahwa, Harvinder Singh; Kumar, Awanish; Agarwal, Prerit; Agarwal, Akshay Anand

2015-01-01

Hernia is a common problem of the modern world with its incidence more in developing countries. Inguinal hernia is the most common groin hernia repaired worldwide. With advancement in technology operative techniques of repair have also evolved. A PubMed and COCHRANE database search was accomplished in this regard to establish the current status of laparoscopic inguinal hernia repair in view of recent published literature. Published literature support that laparoscopic hernia repair is best suited for recurrent and bilateral inguinal hernia although it may be offered for primary inguinal hernia if expertise is available. PMID:26380826

De Garengeot's hernia: our experience of three cases and literature review

PubMed Central

Akbari, Khalid; Wood, Claire; Hammad, Ahmed; Middleton, Simon

2014-01-01

Groin hernia is a common surgical presentation and nearly half of the femoral hernias present acutely with strangulation. The hernia sac usually contains omentum or small bowel. Rarely, the appendix can herniate into the femoral canal. De Garengeot's hernia is the term used to describe the presence of appendicitis in the femoral hernia. Hernia explorations are performed by surgical trainees and encountering a De Garengeot's hernia can be challenging to manage. We report our experience of three cases of this rare entity and a literature review to improve our understanding for optimum management. PMID:25080546

Congenitally Missing Maxillary Lateral Incisors: Functional and Periodontal Aspects in Patients Treated with Implants or Space Closure and Tooth Re-Contouring

PubMed Central

Marchi, Luciana Manzotti De; Pini, Núbia Inocencya Pavesi; Hayacibara, Roberto Massayuki; Silva, Rafael Santos; Pascotto, Renata Corrêa

2012-01-01

To evaluate functional and periodontal aspects in patients with unilateral or bilateral congenitally missing maxillary lateral incisors, treated with either implants or space closure and tooth re-contouring. The sample consisted of 68 volunteers, divided into 3 groups: SCR - space closure and tooth re-contouring with composite resin (n = 26); SOI – implants placed in the area of agenesis (n = 20); and CG - control group (n = 22). A modified Helkimo questionnaire and the Research Diagnostic Criteria for Temporomandibular Disorders were used by a single, previously calibrated evaluator to assess signs and symptoms of temporomandibular joint disorder. The periodontal assessment involved the following aspects: plaque index, bleeding upon probing, pocket depth greater than 3 mm, gingival recession, abfraction, periodontal biotype and papilla index. The data were analyzed using Fisher's exact test and the nonparametric Mann-Whitney and Kruskal-Wallis tests (α=.05). No differences in periodontal status were found between treatments. None of the groups were associated with signs and symptoms of temporomandibular joint disorder. Both treatment alternatives for patients with congenitally missing maxillary lateral incisors were satisfactory and achieved functional and periodontal results similar to those of the control group. PMID:23346262

Single-Incision Laparoscopic Repair of Spigelian Hernia

PubMed Central

Tran, Kim; Zajkowska, Marta; Lam, Vincent; Hawthorne, Wayne J.

2015-01-01

Introduction: Spigelian hernias represent only 1% to 2% of all abdominal wall hernias. The treatment, however, remains controversial but depends on institutional expertise. This case series reports the first experience with single-incision laparoscopic totally extraperitoneal (SILTEP) repair of Spigelian hernias with telescopic extraperitoneal dissection in combination with inguinal hernia repair. Methods: From February 2013 to April 2014, all patients referred with inguinal or Spigelian hernias, without histories of extraperitoneal intervention, underwent SILTEP repair with telescopic extraperitoneal dissection. A single-port device, 5.5 mm/52 cm/30° angled laparoscope, and conventional straight dissecting instruments were used for all cases. Extraperitoneal dissection was performed under direct vision with preservation of preperitoneal fascia overlying retroperitoneal nerves. Inguinal herniorrhaphy was performed with lightweight mesh that covered low-lying Spigelian defects. High-lying Spigelian defects were repaired with additional mesh. Results: There were 131 patients with 186 (92 direct) inguinal hernias and 7 patients with 8 Spigelian hernias (6 incidental, including 1 bilateral and 2 preoperatively diagnosed), with a mean age of 51.3 years and a mean body mass index of 25.1 kg/m2. An additional piece of mesh was used for 3 hernias. All Spigelian hernias were associated with direct inguinal hernias, and 8 combined inguinal and Spigelian hernias were successfully repaired with SILTEP repair with telescopic extraperitoneal dissection as day cases. There were no clinical recurrences during a mean follow-up period of 6 months (range, 1–15 months). Conclusions: Combined Spigelian and inguinal hernias can be successfully treated with SILTEP herniorrhaphy with telescopic extraperitoneal dissection. The high incidence of Spigelian hernias associated with direct inguinal hernias suggests a high index of suspicion for Spigelian hernias during laparoscopic inguinal herniorrhaphy. PMID:25722629

Multiple concurrent bilateral groin hernias in a single patient; a case report and a review of uncommon groin hernias: A possible source of persistent pain after successful repair.

PubMed

Matsevych, O Y; Koto, M Z; Becker, J H R

2016-01-01

The wide use of laparoscopy for groin hernia repair has unveiled "hidden hernias" silently residing in this area. During the open repair of the presenting hernia, the surgeon was often unaware of these occult hernias. These patients postoperatively may present with unexplained chronic groin or pelvic pain. Rare groin hernias are defined according to their anatomical position. Challenges in the diagnosis and management of occult rare groin hernias are discussed. These problems are illustrated by a unique case report of multiple (six) coexisting groin hernias, whereof five were occult and two were rare. Rare groin hernias are uncommon because they are difficult to diagnose clinically and are not routinely looked for. They are often occult and may coexist with other inguinal hernias, thus posing a diagnostic and treatment challenge to the surgeon, especially if there is persistent groin pain after "successful" repair. MRI is the most accurate preoperative and postoperative diagnostic tool, if there is a clinical suspicion that the patient might have an occult hernia. Preperitoneal endoscopic approach is the recommended method in confirming the diagnosis and management of occult groin hernias. A sound knowledge of groin anatomy and a thorough preperitoneal inspection of all possible sites for rare groin hernias are needed to diagnose and repair all defects. The preperitoneal mesh repair with adequate overlap of all hernia orifices is the recommended treatment of choice. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Strangulated inguinal hernia in adult males in Kumasi.

PubMed

Ohene-Yeboah, M; Dally, C K

2014-06-01

The complications of untreated inguinal hernias are common surgical emergencies in adult Ghanaian men. To describe the epidemiology of strangulated inguinal hernia in adult males in Kumasi. From the hospital records the age and sex of all male adult patients treated for strangulated inguinal hernia were recorded at the Komfo Anokye Teaching Hospital(KATH), the University Hospital (UH), the Seventh Day Adventist Hospital (SDAH) and the Kumasi South Hospital (KSH) for the period January 2007 to December 2011 inclusive. The total number of inguinal hernia repairs from all four facilities was also recorded. The annual incidence of strangulated inguinal hernia and the hernia repair rates were estimated using the 2010 population data. Five-hundred and ninety-two cases of strangulated inguinal hernia were treated over the five years. The incidence of strangulated inguinal hernia was 0.26%. A total of 2243 inguinal hernia repairs were performed and 26.4 % of these repairs were for strangulation. The total number of inguinal hernia repairs averaged 77.3 repairs per 100 000 adult males per year and the elective repair rate was low at 0.9%. There is the need to increase the levels of elective repair of inguinal hernia in Kumasi.

20S proteasome in the blood plasma of boys with cryptorchidism.

PubMed

Toliczenko-Bernatowicz, D; Matuszczak, E; Tylicka, M; Sankiewicz, A; Komarowska, M; Gorodkiewicz, E; Debek, W; Hermanowicz, A

2018-02-15

To evaluate the concentration of 20S proteasome in the blood plasma of boys with cryptorchidism. Patients-50 boys aged 1-4 years (median = 2.4 years) with unilateral cryptorchidism. The control group-50 healthy, age-matched boys (aged 1-4 years, median = 2.1 years), admitted for planned herniotomy. In our study, we used a novel technique Surface PLASMON RESONANCE Imaging. The median concentration of 20S proteasome in the blood plasma of boys with cryptorchidism was 2.5-fold higher than in boys with inguinal hernia. We noticed statistically significant difference between 20S proteasome levels in boys with cryptorchidism up to 2 years old and above 2 years old. We believe that the 20S proteasome concentrations in the blood plasma of boys with cryptorchidism reflect the heat-induced apoptosis of germ cells.

[Amyand's hernia--a clinical case].

PubMed

Savlovschi, C; Brănescu, C; Serban, D; Tudor, C; Găvan, C; Shanabli, A; Comandaşu, M; Vasilescu, L; Borcan, R; Dumitrescu, D; Sandolache, B; Sajin, M; Grădinaru, S; Munteanu, R; Kraft, A; Oprescu, S

2010-01-01

Amyand's hernia, a rare entity in the surgical pathology, presupposes the presence of the vermiform appendix inside a inguinal hernia sac (1). The hernia sac peritonitis by appendix swelling is even more rare, very few cases being presented in the surgical literature (1). The preoperatory diagnosis of Amyand's hernia is therefore very difficult. We herein present the case of a 71-year old male patient, operated on an emergency basis for hernia, which eventually turned out to be Amyand's hernia, a case which determined us to research the literature dedicated to this topic.

Myocardium expression of connexin 43, SERCA2a, and myosin heavy chain isoforms are preserved in nitrofen-induced congenital diaphragmatic hernia rat model.

PubMed

Baptista, Maria João; Recamán, Mónica; Melo-Rocha, Gustavo; Nogueira-Silva, Cristina; Roriz, José-Mário; Soares-Fernandes, João; Gonzaga, Silvia; Santos, Marta; Leite-Moreira, Adelino; Areias, José Carlos; Correia-Pinto, Jorge

2006-09-01

Previous morphological studies had produced controversial results with regard to heart development in congenital diaphragmatic hernia (CDH), whereas a few publications investigated cardiac function and myocardial maturation. Myocardium maturation is associated with age-dependent increasing of gene expression of gap junction protein connexin 43 (Cx43), adenosine triphosphatase of the sarcoplasmic reticulum (SERCA2a), as well as switching of myosin heavy chains (MHCs) from beta to alpha isoforms. Our aim was to evaluate myocardium maturity in nitrofen-induced CDH rat model. Fetuses from dated pregnant Sprague-Dawley rats were assigned to 3 experimental groups: control, nitrofen (exposed to nitrofen, without CDH), and CDH (exposed to nitrofen, with CDH). Myocardial samples collected from left ventricle free wall were processed to (i) quantification of messenger RNA (mRNA) of Cx43, SERCA2a, alpha and beta MHC isoforms, as well as beta-actin (housekeeping gene); and (ii) separation of MHC isoforms (alpha and beta isoforms) by sodium dodecyl sulfate polyacrylamide gel electrophoresis silver stained. We demonstrated that there is no difference in myocardial gene expression of Cx43 (control, 1.0 +/- 0.1; nitrofen, 1.1 +/- 0.2; CDH, 1.3 +/- 0.2) and SERCA2a (control, 1.0 +/- 0.1; nitrofen, 0.9 +/- 0.1; CDH, 1.0 +/- 0.2). Myocardial gene expressions of alpha and beta mRNA of MHC isoforms were slightly decreased both in nitrofen and CDH fetuses when compared with control fetuses, but evaluation of the alpha-to-beta ratios of MHC isoforms at protein level revealed no significant differences between CDH and control (control, 16.9 +/- 2.5; CDH, 17.0 +/- 2.0). Myocardial quantification of Cx43 and SERCA2a mRNA, as well as the expression pattern of MHC isoforms at protein levels, was similar in all studied groups. We predict, therefore, that acute heart failure commonly observed in CDH infants might be attributed predominantly to cardiac overload secondary to severe pulmonary hypertension rather than to myocardial immaturity.

Is there a role for antioxidants in prevention of pulmonary hypoplasia in nitrofen-induced rat model of congenital diaphragmatic hernia?

PubMed

Cigdem, Murat Kemal; Kizil, Goksel; Onen, Abdurrahman; Kizil, Murat; Nergiz, Yusuf; Celik, Yusuf

2010-04-01

Many studies suggest a role for antioxidants in the prevention of lung hypoplasia in nitrofen-induced rat models with congenital diaphragmatic hernia (CDH). This study investigates the oxidative status and the histological outcome of prenatal administration of vitamins E and C with synergistic effect, and effect of N-acetylcysteine (NAC) to improve lung maturation of nitrofen-induced rats. CDH was induced by maternal administration of a single oral dose of nitrofen on day 9.5 of gestation, and the Sprague-Dawley rats were randomly divided into five groups: nitrofen (N), nitrofen + vitamin C (NC), nitrofen + vitamin E (NE), nitrofen + vitamin C + vitamin E (NCE) and nitrofen + NAC (NNAC). A control group in which only vehicle was administered was included. Cesarean section was performed on day 21. Body weight (BW) and total lung weight (LW) of all fetuses with CDH were recorded; lung histological evaluation was performed, and protein content of lungs, determination of thiobarbituric acid reactive substances, and the protein carbonyls in tissue samples were determined. A total of 133 rat fetuses with CDH were investigated. The body weight and the lung weight of fetuses of all groups that were exposed to nitrofen were significantly decreased than of the control group (P < 0.05). The animals exposed to nitrofen with different antioxidants showed increased protein levels in lung tissue. However, in the NCE and the NNAC groups, protein levels were significantly increased than in the others. Malondialdehyde levels significantly decreased in the NCE and the NNAC groups when compared with the NC and the NE groups. In addition, the NCE and NNAC groups decreased protein oxidation to control levels, and no significant difference was observed between control and these two antioxidants groups. The N, NC, NE and NNAC groups showed minimal improvement in lung histology; the NCE groups showed the most improvement in lung histology when compared with the other nitrofen plus antioxidant groups. Prenatal administration of NAC and vitamin E in combination with vitamin C represented the best effects to avoid oxidative damage and protein content of the lungs in rat pups with CDH at birth.

COUP-TFII gene expression is upregulated in embryonic pleuroperitoneal folds in the nitrofen-induced congenital diaphragmatic hernia rat model.

PubMed

Dingemann, J; Doi, T; Ruttenstock, E M; Gosemann, J H; Puri, P

2012-02-01

The nitrofen model of congenital diaphragmatic hernia (CDH) creates a Bochdalek-type diaphragmatic defect and has been widely used to investigate the pathogenesis of CDH. However, the exact pathogenesis of the diaphragmatic defect in this model is still poorly understood. Chicken ovalbumin upstream promotor-transcription factor II (COUP-TFII) is expressed in the embryonic pleuroperitoneal folds (PPF) in the early stage of development and in the diaphragm in the late days of gestation. COUP-TFII is known to be a strong repressor of the retinoid signaling pathway (RSP), which plays an important role in diaphragm development. Furthermore, it has been recently shown that COUP-TFII is upregulated during early gestation in the nitrofen-induced hypoplastic lung. We designed this study to investigate the hypothesis that COUP-TFII gene expression is upregulated during early diaphragmatic development in the PPF. Timed pregnant rats were exposed to either olive oil (Control) or nitrofen (CDH) on day 9 of gestation (D9). Fetuses were sacrificed on D13, D18 or D21. The PPF was dissected from D13 fetuses using laser capture microdissection. Diaphragms were dissected from D18 and D21 fetuses under the dissection microscope. The relative mRNA expression levels of COUP-TFII were determined using real-time PCR. Immunohistochemistry was performed to evaluate diaphragmatic protein expression and the distribution of COUP-TFII.Results On D13, gene expression levels of COUP-TFII in the PPF were significantly increased in the CDH group (82.93 ± 11.85) compared to Controls (46.22 ± 8.09; p < 0.05), whereas there were no differences at later time points. The immunoreactivity of diaphragmatic COUP-TFII was markedly increased in the PPF in the CDH group compared to controls on D13. No difference in immunoreactivity was observed on D18 and D21. Upregulation of COUP-II gene expression in the PPF may contribute to the diaphragmatic defect in the nitrofen CDH model by inhibiting the RSP. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Nitrofen interferes with trophoblastic expression of retinol-binding protein and transthyretin during lung morphogenesis in the nitrofen-induced congenital diaphragmatic hernia model.

PubMed

Kutasy, Balazs; Gosemann, Jan H; Doi, Takashi; Fujiwara, Naho; Friedmacher, Florian; Puri, Prem

2012-02-01

Retinoids play a key role in lung development. Retinoid signaling pathway has been shown to be disrupted in the nitrofen model of congenital diaphragmatic hernia (CDH) but the exact mechanism is not clearly understood. Retinol-binding protein (RBP) and transthyretin (TTR) are transport proteins for delivery of retinol to the tissues via circulation. Previous studies have shown that pulmonary retinol levels are decreased during lung morphogenesis in the nitrofen CDH model. In human newborns with CDH, both retinol and RBP levels are decreased. It has been reported that maternal RBP does not cross the placenta and the fetus produces its own RBP by trophoblast. RBP and TTR synthesized in the fetus are essential for retinol transport to the developing organs including lung morphogenesis. We hypothesized that nitrofen interferes with the trophoblastic expression of RBP and TTR during lung morphogenesis and designed this study to examine the trophoblastic expression of RBP and TTR, and the total level of RBP and TTR in the lung in the nitrofen model of CDH. Pregnant rats were exposed to either olive oil or nitrofen on day 9 of gestation (D9). Fetal lungs and placenta harvested on D21 and divided into two groups: control (n = 8) and nitrofen with CDH (n = 8). Total lung RBP and TTR levels using protein extraction were compared with enzyme linked immunoassay (ELISA). Immunohistochemistry was performed to evaluate trophoblastic RBP and TTR expression. Total protein levels of lung RBP and TTR were significantly lower in CDH (0.26 ± 0.003 and 6.4 ± 0.5 μg/mL) compared with controls (0.4 ± 0.001 and 9.9 ± 1.6 μg/mL, p < 0.05). In the control group, immunohistochemical staining showed strong immunoreactivity of RBP and TTR in the trophoblast compared to CDH group. Decreased trophoblast expression of retinol transport proteins suggest that nitrofen may interfere with the fetal retinol transport resulting in reduced pulmonary RBP and TTR levels and causing pulmonary hypoplasia in CDH.

Downregulation of FGFRL1 contributes to the development of the diaphragmatic defect in the nitrofen model of congenital diaphragmatic hernia.

PubMed

Dingemann, J; Doi, T; Ruttenstock, E M; Puri, P

2011-01-01

The nitrofen model of Congenital Diaphragmatic Hernia (CDH) displays a diaphragmatic defect of the Bochdalek-type and has been widely used to investigate the pathogenesis of CDH. However, the exact pathomechanism of the diaphragmatic defect is still poorly understood. Fibroblast growth factor (FGF) receptor-like 1 (FGFRL1), a member of the FGF receptor family, plays a key role in physiological diaphragmatic development. FGFRL1 is expressed in the fetal diaphragm at low levels in early gestation and its expression steadily increases, becoming most pronounced in later gestational stages. It has been reported that FGFRL1 homozygous null mice have thin, partially amuscular diaphragms and die at birth due to respiratory failure. The aim of this study was to investigate the hypothesis that FGFRL1 gene expression in the diaphragm is downregulated during the later gestational stages in the nitrofen CDH model. Timed pregnant rats were exposed to either olive oil or 100 mg nitrofen on day 9 of gestation (D9). Cesarean section was performed on D18 or D21. Fetal diaphragms (n=40) were micro-dissected and divided into CDH group and controls. Total RNA was extracted from the diaphragms and the mRNA levels of FGFRL1 were determined using real-time PCR. Immunohistochemistry was performed to evaluate diaphragmatic protein expression of FGFRL1. Student's t-test and Mann-Whitney test were used, where appropriate. Statistical significance was considered for p<0.05. Relative mRNA expression levels of FGFRL1 were significantly decreased in the CDH group compared to controls on D18 (3.63 ± 1.65 vs. 6.04 ± 3.12, p<0.05) and D21 (1.36 ± 1.01 vs. 2.57 ± 1.34, p<0.05). Immunoreactivity of FGFRL1 was markedly decreased in the diaphragms of the CDH group compared to controls on D18 and D21. Our data provide strong evidence that downregulation of the FGFRL1 gene during the late stages of gestation may contribute to the development of the diaphragmatic defect in nitrofen-induced CDH. © Georg Thieme Verlag KG Stuttgart · New York.

Fibrillin-1 Expression Is Decreased in the Diaphragmatic Muscle Connective Tissue of Nitrofen-Induced Congenital Diaphragmatic Hernia.

PubMed

Takahashi, Toshiaki; Friedmacher, Florian; Zimmer, Julia; Puri, Prem

2017-02-01

Introduction  Diaphragmatic morphogenesis depends on proper formation of muscle connective tissue (MCT) and underlying extracellular matrix (ECM). Fibrillin-1 is an essential ECM protein and crucial for the structural integrity of MCT in the developing diaphragm. Recently, mutations in the fibrillin-1 gene (FBN1) have been identified in cases of congenital diaphragmatic hernia (CDH), thus suggesting that alterations in FBN1 gene expression may lead to diaphragmatic defects. We designed this study to investigate the hypothesis that the diaphragmatic expression of fibrillin-1 is decreased in the MCT of nitrofen-induced CDH. Materials and Methods  Time-mated rats were exposed to nitrofen or vehicle on gestational day 9 (D9). Fetal diaphragms ( n  = 72) were harvested on D13, D15, and D18, and divided into control and nitrofen-exposed specimens. Laser-capture microdissection was used to obtain diaphragmatic tissue cells. Gene expression levels of FBN1 were analyzed by qRT-PCR. Immunofluorescence-double-staining for fibrillin-1 and the mesenchymal marker Gata4 was performed to evaluate protein expression and localization. Results  Relative mRNA expression of FBN1 was significantly decreased in pleuroperitoneal folds on D13 (3.39 ± 1.29 vs. 5.47 ± 1.92; p  < 0.05), developing diaphragms on D15 (2.48 ± 0.89 vs. 4.03 ± 1.62; p  < 0.05), and fully muscularized diaphragms on D18 (2.49 ± 0.69 vs. 3.93 ± 1.55; p  < 0.05) of nitrofen-exposed fetuses compared with controls. Confocal-laser-scanning microscopy revealed markedly diminished fibrillin-1 immunofluorescence mainly in MCT, associated with a reduction of proliferating mesenchymal cells in nitrofen-exposed fetuses on D13, D15, and D18 compared with controls. Conclusions  Decreased expression of fibrillin-1 during morphogenesis of the fetal diaphragm may disrupt mesenchymal cell proliferation, causing malformed MCT and thus resulting in diaphragmatic defects in the nitrofen-induced CDH model. Georg Thieme Verlag KG Stuttgart · New York.

[Effects of Tetrandrine Prenatal Intervention on Alveolar Epithelial Cells Type I Differentiation in Rat Model of Nitrofen-induced Congenital Diaphragmatic Hernia].

PubMed

Xiao, Bin; Xu, Chang; Liu, Min; Ji, Yi; Yang Li-xun; Li, Tai-ming; Jiang, Jun; He, Tao-zhen

2016-03-01

To investigate the effects of Tetrandrine (TET) prenatal intervention on the differentiation of alveolar epithelial cells type I (AEC I) in rat model of Nitrofen-induced congenital diaphragmatic hernia (CDH). Timed-pregnant Sprague-Dawley rats were divided into three groups, namely control, CDH and TET group on day 9.5 of gestation. The rats in TET group and CDH group were given 125 mg of Nitrofen by gavage one time, while the rats in control group were given the same dose of seed fat. After that, the rats in TET group was given 30 mg/kg of TET by gavage once a day for three days from day 18.5 of gestation, while the rats in CDH and control group were given the same dose of normal saline. On day 21.5 of gestation, all fetuses were delivered by cesarean, the lungs of fetuses were histologically evaluated by microscope and electron microscope. The expressions of type I cell-specific protein (RT140) and thyroid transcription factor 1 (TTF1) in alveolar fluid content were analyzed by RT-PCR and immunohistochemistry staining. To detect the number of AEC I and AEC II of each group by transmission electron microscopy and calculate the percentage of AEC I and AEC II (I/II%). The microscope and electron microscope study found the lungs of fetuses in CDH group showed marked hypoplasia, in contrast to the improvement of hypoplasia in TET fetuses. The pulmonary alveolar area had significant difference statistically (P < 0.01) in each group, which present as control > TET > CDH. I/II% had significant difference statistically (P < 0.01) in each group, which present as control > TET > CDH. The expression level of TTF1 was up-regulated in both CDH and TET groups, and it was higher in CDH group (P < 0.01). The expression level of RT140 were down-regulated in CDH and TET groups, which was lower in CDH group (P < 0.01). The development of AEC I was interfered in CDH rat model, TET prenatal treatment could improve the lung development of CDH.

Prevalence and causes of blindness at a tertiary hospital in Douala, Cameroon

PubMed Central

Eballé, André Omgbwa; Mvogo, Côme Ebana; Koki, Godefroy; Mounè, Nyouma; Teutu, Cyrille; Ellong, Augustin; Bella, Assumpta Lucienne

2011-01-01

Purpose The aim of this study was to determine the prevalence and causes of bilateral and unilateral blindness in the town of Douala and its environs based on data from the ophthalmic unit of a tertiary hospital in Douala. Methods We conducted a retrospective epidemiological survey of consultations at the eye unit of the Douala General Hospital over the last 20 years (from January 1, 1990 to December 31, 2009). Results Out of the 1927 cases of blindness, 1000 were unilateral, corresponding to a hospital prevalence of 1.84% and 927 cases were bilateral, corresponding to a hospital prevalence of 1.71%. No statistically significant difference was noted between the two (P = 0.14). The leading causes of bilateral blindness were cataract (50.1%), glaucoma (19.7%), and diabetic retinopathy (7.8%) while the leading causes of unilateral blindness were cataract (40.4%), glaucoma (14.1%), and retinal detachment (9.1%). Cataract (51.2%), cortical blindness (16.3%), and congenital glaucoma (10%) were the leading causes of bilateral blindness in children aged less than 10 years. Conclusion Blindness remains a public health problem in the Douala region with a hospital prevalence which is relatively higher than the national estimate given by the National Blindness Control Program. PMID:21966211

High-Riding Congenital Hip Dislocation: THA With Unilateral vs Bilateral Transverse Femoral Shortening Osteotomy.

PubMed

Can, Ata; Sarikaya, Ilker A; Yontar, Necip S; Erdogan, Ayse O; Gorgun, Baris; Erdogan, Fahri

2018-05-01

We argue that 1-stage bilaterally total hip arthroplasty (THA) could be acceptable in bilateral coxarthrosis because of high-riding developmental dysplasia of the hip (DDH). Sixty-nine cases (51 patients) of high-riding DDH in patients who underwent THA from 2010 to 2013 were reviewed. Patients were divided into 2 groups: unilateral (group 1) and 1-stage bilateral surgery (group 2). The clinical measurements were the visual analog scale and Harris Hip Score. The average follow-up was 37.3 months for group 1 and 38.8 months for group 2. The hospital stay time was 5.2 days in group 1 and 6.2 days in group 2 (P = .334). The mean Harris Hip Score and visual analog scale score were improved significantly after surgery for both groups, and there was no statistically significant difference (P = .988). There was no difference between groups 1 and 2 in terms of complications (P = .137). Our data confirm that 1-stage bilateral transverse osteotomy with THA is an effective method as unilateral and it does not increase the length of patients' hospital stays and features a low risk of postoperative complications in the treatment of patients with high-riding DDH. Copyright © 2017 Elsevier Inc. All rights reserved.

Conversion to Stoppa Procedure in Laparoscopic Totally Extraperitoneal Inguinal Hernia Repair

PubMed Central

Dirican, Abuzer; Ozgor, Dincer; Gonultas, Fatih; Isik, Burak

2012-01-01

Background and Objectives: Conversion to open surgery is an important problem, especially during the learning curve of laparoscopic totally extraperitoneal (TEP) inguinal hernia repair. Methods: Here, we discuss conversion to the Stoppa procedure during laparoscopic TEP inguinal hernia repair. Outcomes of patients who underwent conversion to an open approach during laparoscopic TEP inguinal hernia repair between September 2004 and May 2010 were evaluated. Results: In total, 259 consecutive patients with 281 inguinal hernias underwent laparoscopic TEP inguinal hernia repair. Thirty-one hernia repairs (11%) were converted to open conventional surgical procedures. Twenty-eight of 31 laparoscopic TEP hernia repairs were converted to modified Stoppa procedures, because of technical difficulties. Three of these patients underwent Lichtenstein hernia repairs, because they had undergone previous surgeries. Conclusion: Stoppa is an easy and successful procedure used to solve problems during TEP hernia repair. The Lichtenstein procedure may be a suitable option in patients who have undergone previous operations, such as a radical prostatectomy. PMID:23477173

De Garengeot’s Hernia: Report of a Rare Surgical Emergency and Review of the Literature

PubMed Central

Misiakos, Evangelos P.; Paspala, Anna; Prodromidou, Anastasia; Machairas, Nikolaos; Domi, Vasileia; Koliakos, Nikolaos; Karatzas, Theodore; Zavras, Nick; Machairas, Anastasios

2018-01-01

This is a report of a case who was admitted and operated on for a strangulated femoral hernia. The hernia sac contained a gangrenous appendix, which was excised and the hernia was repaired with sutures without complication. De Garengeot's hernia, although very rare, should be included in the differential diagnosis of cases with strangulated hernia and should receive the optimal treatment. PMID:29564329

Follow-up period of 13 years after endoscopic total extraperitoneal repair of inguinal hernias: a cohort study.

PubMed

Brandt-Kerkhof, Alexandra; van Mierlo, Marjolein; Schep, Niels; Renken, Nondo; Stassen, Laurents

2011-05-01

Endoscopic inguinal hernia repair was introduced in the Netherlands in the early 1990s. The authors' institution was among the first to adopt this technique. In this study, long-term hernia recurrence among patients treated by the total extraperitoneal (TEP) approach for an inguinal hernia is described. A cohort study was conducted. Between January 1993 and December 1997, 346 TEP hernia repairs were performed for 318 patients. After a mean follow-up period of 13-years, a senior resident examined each patient. An experienced surgeon subsequently examined the patients with a diagnosis of recurrent hernia. Data were collected on an intention-to-treat basis, meaning that conversions were included in the analysis. Univariant tests were used to analyze age older than 50 years, chronic obstructive pulmonary disease, body mass index, smoking habit, hernia type, history of open hernia repair, conversion, and surgeon as potential risk factors. The analysis included 191 patients (62%) with 213 hernias. Of the original 318 patients, 59 patients died, and 68 were lost to follow-up evaluation. Perioperatively, 105 lateral, 55 medial, and 53 pantalon hernias were observed. Of the 213 hernias, 176 were primary and 37 were recurrent. The overall recurrence rate was 8.9% (8.5% for primary and 10.8% for recurrent hernias). Of the total study group, 48% of the patients experienced a bilateral inguinal hernia during their lifetime. No predicting factor for recurrent hernia could be identified. The current long-term results for TEP repair of primary and secondary inguinal hernia show an overall recurrence rate of 8.9%, which is slightly higher than in previous studies. The thorough examination at follow-up assessment, the learning curve effect, and the intention-to-treat-analysis may have influenced the observed recurrence rate. Also, the percentage of bilateral hernias was higher than known to date. Therefore, examination of the contralateral side should be standard procedure.

A new minimally invasive technique for the repair of femoral hernia in children: about 13 laparoscopic repairs in 10 patients.

PubMed

Matthyssens, Lucas E M; Philippe, Paul

2009-05-01

Femoral hernias in children are rare and often misdiagnosed. The classic treatment is through an open anterior approach. Since the advent of laparoscopic treatment of inguinal hernia in children, laparoscopy has been proposed to offer an accurate diagnosis and treatment, especially in case of recurrent hernia or bilateral disease. This review was undertaken to report our experience with the primary laparoscopic diagnosis and treatment of pediatric femoral hernias and to investigate its safety and feasibility. All cases of pediatric femoral hernia in a consecutive series of children treated laparoscopically for groin hernias in a single institution over a 7-year period (2001-2007) were identified and studied for patient characteristics, presentation, pre- and perioperative findings, details of the operative repair, and postoperative outcome. Out of a prospectively studied series of 462 laparoscopic pediatric inguinal hernia repairs in 389 patients, 13 femoral hernias were treated in 10 patients (6 boys), with a mean age of 71/2 years (range, 1.7-12). The preoperative diagnosis of femoral hernia was accurate in 7 patients. Seven femoral hernias were exclusively right sided; 3 were bilateral. All 13 femoral hernias were successfully treated by a standardized transabdominal laparoscopic approach with the use of three 3.5-mm trocars. All patients were treated in a day care setting. No postoperative complications occurred. No recurrences were seen until the present time, with a mean follow-up of 31/2 years. Laparoscopy provides a straightforward, accurate diagnosis for the rare and often missed pediatric femoral hernias. The new technique described offers a safe and efficient minimally invasive anatomical repair of the crural orifice in children, even when not suspected preoperatively. The laparoscopic diagnosis of 13 femoral hernias from a cohort of 462 laparoscopic groin hernia repairs (2.8%) may suggest a higher prevalence rate of this unusual type of hernia in children than earlier described in literature.

Nasoalveolar moulding for children with unilateral cleft lip and palate.

PubMed

Chammanam, Shaju George; Biswas, P P; Kalliath, Ranjith; Chiramel, Siji

2014-06-01

Cleft lip and palate represents the most frequently occurring congenital deformity second only to club foot deformity in our country. Wide alveolar clefts if not preceded by pre surgical orthodontic adjuncts like nasoalveolar moulding, may affect the final outcome of the primary surgery. Presurgical nasoalveolar moulding is to align and approximate the alveolar cleft segments while at the same time achieving correction of the nasal cartilage and soft tissue deformity. The device we used is designed by Barry Grayson. It is simple to fabricate, causes less discomfort to the patient and optimum results are achieved in three months of time, compared to other complicated appliances like Latham's which are more invasive. A child of 3 months presented with a complaint of unilateral cleft deformity on one side of the face. After three months of nasoalveolar moulding considerable changes were observed. The widths of the cleft alveolus were reduced and the nasal contours of columella on the cleft side showed considerable improvement.

Neonatal Bartter syndrome and unilateral ectopic renal cyst as new renal causes of hydrops fetalis: two case reports and review of the literature.

PubMed

Çetinkaya, Merih; Durmaz, Oguzhan; Büyükkale, Gökhan; Ozbek, Sibel; Acar, Deniz; Kilicaslan, Isin; Kavuncuoglu, Sultan

2013-07-01

Non-immune hydrops fetalis (NIHF) is a challenging entity as it represents the end stage of several different disorders. Renal and genitourinary causes of NIHF are rare and include congenital renal malformations, tumors and ureter-urethra disorders. Herein, two NIHF cases with different renal causes were presented. The first case that had antenatal NIHF was diagnosed neonatal Bartter syndrome. The second case of NIHF with antenatal large cyst in the surrenal gland area required surgery and ectopic renal cyst was diagnosed. To our best of knowledge, these are the first reports of NIHF associated with neonatal Bartter syndrome and ectopic renal cyst in neonates. Although it may be coincidental, these cases suggest that both neonatal Bartter syndrome and unilateral ectopic renal cyst may cause NIHF development in neonates by several different mechanisms. Therefore, these two rare entities should be suspected in cases of NIHF with similar findings.

[New developments in spastic unilateral cerebral palsy].

PubMed

Chabrier, S; Roubertie, A; Allard, D; Bonhomme, C; Gautheron, V

2010-01-01

Hemiplegic (or spastic unilateral) cerebral palsy accounts for about 30% of all cases of cerebral palsy. With a population prevalence of 0.6 per 1000 live births, it is the most common type of cerebral palsy among term-born children and the second most common type after diplegia among preterm infants. Many types of prenatal and perinatal brain injury can lead to congenital hemiplegia and brain MRI is the most useful tool to classify them with accuracy and to provide early prognostic information. Perinatal arterial ischemic stroke thus appears as the leading cause in term infants, whereas encephalopathy of prematurity is the most common cause in premature babies. Other causes include brain malformations, neonatal sinovenous thrombosis, parenchymal hemorrhage (for example due to coagulopathy or alloimmune thrombocytopenia) and the more recently described familial forms of porencephaly associated with mutations in the COL4A1 gene. In adjunction with pharmacologic treatment (botulinium neurotoxin injection), new evidence-based rehabilitational interventions, such as constraint-induced movement therapy and mirror therapy, are increasingly being used.

[National project for the management of clinical processes. Surgical treatment of inguinal hernia].

PubMed

Rodríguez-Cuéllar, Elías; Villeta, Rafael; Ruiz, Pedro; Alcalde, Juan; Landa, José Ignacio; Luis Porrero, José; Gómez, Manuel; Jaurrieta, Eduardo

2005-04-01

The high prevalence of surgical treatment for inguinal hernia (especially in general surgery) prompted the Spanish Association of Surgeons to perform a national study to identify the most important indicators. To analyze healthcare quality in elective surgery for inguinal hernia by evaluating scientific-technical quality, efficiency, effectiveness, and patient satisfaction. A prospective, longitudinal, descriptive study from diagnosis to postoperative follow-up was performed. Patients who underwent surgery for unilateral or bilateral, primary or recurrent inguinal hernias were included. Exclusion criteria were emergency surgery and associated surgical procedures. Clinical indicators were selected after a literature review. Forty-six hospitals corresponding to 16 Autonomous Communities with a total of 386 patients participated in this study. The mean follow-up was 18 months. The mean age of the patients was 56.33 years and 88.3% were male. Half the patients (50.1%) were American Society of Anesthesiologists (ASA) grade I. A total of 95.6% did not comply with the protocol for preoperative tests of the Spanish Association of Surgeons. Antibiotic prophylaxis was used in 75.39% and thromboembolic prophylaxis was used in 40.04%. Ambulatory surgery was performed in 33.6%. Local anesthesia and sedation only were used in 16.36% of the patients. The most frequently used surgical procedures involved mesh repair (Lichtenstein 50%, Rutkow-Robbins 17.1%), laparoscopy was used in 5.2% of the patients, and the Shouldice technique was used in 8.5%. The mean length of hospital stay was 47.5 hours in inpatients and was 11.65 hours in patients who underwent ambulatory surgery. Notable among the complications was hematoma in 11.6%. Ninety-six percent of the patients were satisfied or highly satisfied. The most highly scored items in the satisfaction survey were those related to information, personal dealings with staff, and the staffs kindness. The lowest scored items dealt with punctuality and accessibility. Follow-up at 18 months showed a recurrence rate of 4.11% with a total recovery time estimated by patients of 7.26 weeks. Analysis of the process revealed areas for improvement and strong points. Strong points consisted of up-to-date choice of surgical technique. The most frequently used techniques were tension-free procedures and the Shouldice technique. The following areas for improvement were identified: adherence to protocols for preoperative evaluation, increased use of ambulatory surgery, local anesthesia and sedation, appropriate use of antibiotic and thromboembolic prophylaxis in selected patients and a reduction in the length of hospital stay in inpatients. Patient satisfaction with the treatment was acceptable.

CT and US findings of ovarian torsion within an incarcerated inguinal hernia.

PubMed

Hyun, Park Mee; Jung, Ah Young; Lee, Yul; Yang, Ik; Yang, Dae Hyun; Hwang, Ji-Young

2015-02-01

Inguinal hernia is relatively common in children. Although inguinal hernia is not frequently encountered in girls in comparison to boys, there are occasional cases of uterine or ovarian herniation in female indirect inguinal hernia. Incarcerated ovary in hernia sac has the risk of torsion and strangulation. We present an 8-year-old girl with painful mass in her left groin. With computed tomography (CT) and ultrasonography (US), we made the diagnosis of ovarian strangulation within an incarcerated inguinal hernia. Since ultrasound is primarily used for evaluation of groin mass, CT findings of an incarcerated inguinal hernia is rarely reported.

[Hernia surgery in urology. Part 2: parastomal, trocar and incisional hernias - fundamentals of clinical diagnostics and treatment].

PubMed

Franz, T; Schwalenberg, T; Dietrich, A; Müller, J; Stolzenburg, J-U

2013-06-01

Hernias are a common occurrence with a correspondingly huge clinical and economic impact on the healthcare system. Parastomal and trocar hernias are rare in routine urological work. The therapy of parastomal hernias remains problematic but basically the surgeon is able to use conventional techniques with suture repair or procedures with mesh implantation. The conventional parastomal hernia repair with mesh can be classified into sublay, onlay and intraperitoneal techniques. Furthermore, a relocation of the stoma is possible. Trocar hernias represent a rare but hazardous complication. Due to the increase in keyhole surgery there is also the danger of a rise in their occurrence. Incisional hernias occur frequently in patients who have undergone laparotomy and for repair different surgical techniques and types of meshes are available. This article presents an overview of the epidemiology, pathogenesis, clinical symptoms, diagnostic and therapy of parastomal, trocar and incisional hernias.

Umbilical hernia with cholelithiasis and hiatal hernia: a clinical entity similar to Saint's triad.

PubMed

Yamanaka, Takahiro; Miyazaki, Tatsuya; Kumakura, Yuji; Honjo, Hiroaki; Hara, Keigo; Yokobori, Takehiko; Sakai, Makoto; Sohda, Makoto; Kuwano, Hiroyuki

2015-01-01

We experienced two cases involving the simultaneous presence of cholelithiasis, hiatal hernia, and umbilical hernia. Both patients were female and overweight (body mass index of 25.0-29.9 kg/m(2)) and had a history of pregnancy and surgical treatment of cholelithiasis. Additionally, both patients had two of the three conditions of Saint's triad. Based on analysis of the pathogenesis of these two cases, we consider that these four diseases (Saint's triad and umbilical hernia) are associated with one another. Obesity is a common risk factor for both umbilical hernia and Saint's triad. Female sex, older age, and a history of pregnancy are common risk factors for umbilical hernia and two of the three conditions of Saint's triad. Thus, umbilical hernia may readily develop with Saint's triad. Knowledge of this coincidence is important in the clinical setting. The concomitant occurrence of Saint's triad and umbilical hernia may be another clinical "tetralogy."

Do large hiatal hernias affect esophageal peristalsis?

PubMed Central

Roman, Sabine; Kahrilas, Peter J; Kia, Leila; Luger, Daniel; Soper, Nathaniel; Pandolfino, John E

2013-01-01

Background & Aim Large hiatal hernias can be associated with a shortened or tortuous esophagus. We hypothesized that these anatomic changes may alter esophageal pressure topography (EPT) measurements made during high-resolution manometry (HRM). Our aim was to compare EPT measures of esophageal motility in patients with large hiatal hernias to those of patients without hernia. Methods Among 2000 consecutive clinical EPT, we identified 90 patients with large (>5 cm) hiatal hernias on endoscopy and at least 7 evaluable swallows on EPT. Within the same database a control group without hernia was selected. EPT was analyzed for lower esophageal sphincter (LES) pressure, Distal Contractile Integral (DCI), contraction amplitude, Contractile Front Velocity (CFV) and Distal Latency time (DL). Esophageal length was measured on EPT from the distal border of upper esophageal sphincter to the proximal border of the LES. EPT diagnosis was based on the Chicago Classification. Results The manometry catheter was coiled in the hernia and did not traverse the crural diaphragm in 44 patients (49%) with large hernia. Patients with large hernias had lower average LES pressures, lower DCI, slower CFV and shorter DL than patients without hernia. They also exhibited a shorter mean esophageal length. However, the distribution of peristaltic abnormalities was not different in patients with and without large hernia. Conclusions Patients with large hernias had an alteration of EPT measurements as a consequence of the associated shortened esophagus. However, the distribution of peristaltic disorders was unaffected by the presence of hernia. PMID:22508779