Small bowel obstruction due to phytobezoar formation within meckel diverticulum: CT findings

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

Frazzini, V.I. Jr.; English, W.J.; Bashist, B.

1996-05-01

Intestinal obstruction due to a phytobezoar within a Meckel diverticulum is exceedingly rare, with only seven reported cases in the surgical literature. The most important precipitating factor is the ingestion of agents high in fiber and cellulose. Small bowel obstruction in all but one case was due to retrograde propagation of the bezoar into the small bowel lumen. We report the clinical and CT findings in such a patient following a vegetarian diet. 14 refs., 2 figs.

Laparoscopic approach to Meckel's diverticulum

PubMed Central

Papparella, Alfonso; Nino, Fabiano; Noviello, Carmine; Marte, Antonio; Parmeggiani, Pio; Martino, Ascanio; Cobellis, Giovanni

2014-01-01

AIM: To retrospective review the laparoscopic management of Meckel Diverticulum (MD) in two Italian Pediatric Surgery Centers. METHODS: Between January 2002 and December 2012, 19 trans-umbilical laparoscopic-assisted (TULA) procedures were performed for suspected MD. The children were hospitalized for gastrointestinal bleeding and/or recurrent abdominal pain. Median age at diagnosis was 5.4 years (range 6 mo-15 years). The study included 15 boys and 4 girls. All patients underwent clinical examination, routine laboratory tests, abdominal ultrasound and technetium-99m pertechnetate scan, and patients with bleeding underwent gastrointestinal endoscopy. The abdominal exploration was performed with a 10 mm operative laparoscope. Pneumoperitoneum was established based on the body weight. Systematic overview of the peritoneal cavity allowed the ileum to be grasped with an atraumatic instrument. The complete exploration and surgical treatment of MD were performed extracorporeally, after intestinal exteriorization through the umbilicus. All patients’ demographics, main clinical features, diagnostic investigations, operative time, histopathology reports, conversion rate, hospital stay and complications were registered and analyzed. RESULTS: MD was identified in 17 patients, while 1 had an ileal duplication and 1 a jejunal hemangioma. Fifteen patients had painless intestinal bleeding, while 4 had recurrent abdominal pain and exhibited cyst like structures in an ultrasound study. Eleven patients had a positive technetium-99m pertechnetate scan. In the patients with bleeding, gastrointestinal endoscopy did not name the source of hemorrhage. All patients were subjected to a TULA surgical procedure. An intestinal resection/anastomosis was performed in 14 patients, while 4 had a wedge resection of the diverticulum and 1 underwent stapling diverticulectomy. All surgical procedures were performed without conversion to open laparotomy. Mean operative time was 75 min (range 40

Small bowel obstruction caused by Anisakis and Meckel's diverticulum: a rare case.

PubMed

Carbotta, G; Laforgia, R; Milella, Michele; Sederino, M G; Minafra, M; Fortarezza, F; Piscitelli, D; Palasciano, N

2016-01-01

Anisakiasis is a parasitic infection caused by the ingestion of raw fish contaminated by larval nematodes of Anisakis species. Intestinal or extraintestinal manifestations are rated to > 4% and >1% respectively. A 61-year old patient was admitted to our General Surgical and Emergency Unit because of sudden abdominal pain, vomit and constipation. He had eaten raw fish 3 days before admission. Laboratory data showed high levels of WBC and PCR. CT scanning showed "dilation of jejunum and ileum loops, thickening of the terminal ileum and cecum and signs of inflammation of the intestinal wall and mesentery". The following emergency surgical procedure was performed: laparotomy with evidence of obstruction of the small bowels, a giant Meckel's diverticulum, resection of terminal ileum and cecum and ileocolonic anastomosis. At the microscopic examination, the intestinal wall appeared occupied by a transmural inflammatory infiltrate, mainly eosinophilic, edema and nematode larvae, referable to Anisakis, surrounded by necrotic-inflammatory material. Moreover, there was evidence of giant a Meckel's diverticulum. Normally, enteric anisakiasis exhibits leukocytosis with eosinophilia and high CRP levels. There are cases of successful medical treatment and other cases of endoscopic treatment avoiding surgical procedure. In our case, enteric Anisakias had not been taken into consideration at the moment of the operation and only histopathology could reveal Anisakis larvae inside the intestinal wall. Our surgical approach is considered in literature as the best one for this clinical presentation. Those patients need to be better studied and more attention should be paid to their history.

Unusual presentation of obscure Meckel diverticulum treated with robot-assisted diverticulectomy: A case report.

PubMed

Pandey, Sagar; Fan, Miao; Xu, Zhe; Yan, Chaogui; Zhu, Junfeng; Li, Xiuhong

2016-10-01

Meckel diverticulum (MD) is the most common congenital abnormality of gastrointestinal tract. Tough believed to occur in 2% of population, most of them remain veiled because majority are clinically asymptomatic and remain obscure in radiological examination. A 26-year-old male with episodic black colored stool since last 10 years. Tough symptomatic, diagnosis of pathological lesion, and the bleeding site could not be established with any of the sophisticated diagnostic technique. After 10 years, it was finally diagnosed as MD with careful observation of bowel loops on computed tomography enterography (CTE) where remnant of vitelline vessel and hyper-enhancing nodule are seen along the wall of diverticular loop. The patient underwent robot assisted laparoscopic surgery with excision of diverticular loop. To the best of our knowledge, this robot-assistant Meckel diverculectomy is probably the first reported surgical procedure in PubMed. Follow-up for 3 month showed no complication or recurrence. Every case is unique and we must be aware and remain alert in tracing the possible morphological variation of the case. Here, we present one unique but rare feature of MD, which helped us in making diagnosis.

Meckel’s diverticulum: new solutions for an old problem?

PubMed Central

Chauhan, Abhishek; Suggett, Nigel; Guest, Peter; Goh, Jason

2016-01-01

Meckel's diverticulum (MD) is the most commonly encountered true diverticulum in the small bowel. Although overall a rare cause of gastrointestinal bleeding, it remains an important differential in a child/young adult presenting with lower gastrointestinal bleeding. We present two MD cases, one associated with brisk bleeding resulting in haemodynamic instability and the other in insidious blood loss causing symptoms of chronic iron deficiency. These cases illustrate the heterogeneous nature of the clinical picture associated with Meckel's diverticulae, a condition most gastroenterological and surgical units will encounter. We subsequently discuss the diagnostic and management dilemma Meckel's diverticulae pose and appraise the latest evidence and management strategies in this regard. PMID:28839845

Perforated Meckel's diverticulitis complicating active Crohn's ileitis: a case report.

PubMed

Schwenter, Frank; Gervaz, Pascal; de Saussure, Philippe; McKee, Thomas; Morel, Philippe

2009-01-13

In Crohn's disease, the extension of active terminal ileitis into a Meckel's diverticulum is possible, but usually has no impact on clinical decision-making. We describe an original surgical approach in a young woman presenting with a combination of perforated Meckel's diverticulitis and active Crohn's ileitis. We report the case of a 22-year-old woman with Crohn's disease, who was admitted for abdominal pain, fever and diarrhoea. CT scan demonstrated active inflammation of the terminal ileum, as well as a fluid collection in the right iliac fossa, suggesting intestinal perforation. Laparoscopy was performed and revealed, in addition to extensive ileitis, a 3 x 3 cm abscess in connection with perforated Meckel's diverticulitis. It was therefore possible to avoid ileocaecal resection by only performing Meckel's diverticulectomy; pathological examination of the surgical specimen revealed the presence of transmural inflammation with granulomas and perforation of the diverticulum at its extremity. Crohn's disease of the ileum may be responsible for Meckel's diverticulitis and cause perforation which, in this case, proved to be a blessing in disguise and spared the patient an extensive small bowel resection.

Perforated Meckel's diverticulitis complicating active Crohn's ileitis: a case report

PubMed Central

2009-01-01

Introduction In Crohn's disease, the extension of active terminal ileitis into a Meckel's diverticulum is possible, but usually has no impact on clinical decision-making. We describe an original surgical approach in a young woman presenting with a combination of perforated Meckel's diverticulitis and active Crohn's ileitis. Case presentation We report the case of a 22-year-old woman with Crohn's disease, who was admitted for abdominal pain, fever and diarrhoea. CT scan demonstrated active inflammation of the terminal ileum, as well as a fluid collection in the right iliac fossa, suggesting intestinal perforation. Laparoscopy was performed and revealed, in addition to extensive ileitis, a 3 × 3 cm abscess in connection with perforated Meckel's diverticulitis. It was therefore possible to avoid ileocaecal resection by only performing Meckel's diverticulectomy; pathological examination of the surgical specimen revealed the presence of transmural inflammation with granulomas and perforation of the diverticulum at its extremity. Conclusion Crohn's disease of the ileum may be responsible for Meckel's diverticulitis and cause perforation which, in this case, proved to be a blessing in disguise and spared the patient an extensive small bowel resection. PMID:19144118

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

[Axial torsion and gangrene of Meckel's diverticulum: case report].

PubMed

2015-01-01

Meckel's diverticulum (MD) is the most prevalent congenital anomaly of small intestine. It develops due to the incomplete obliteration of omphalomesenterict duct which normally undergoes obliteration during the seventh week of gestation. In the majority of cases MD is asymptomatic but it may cause various complications, such as bleeding, intestinal obstruction and inflammation. Cases of umbilical sinuses, fistulas and neoplasms related with MD have been reported, but extremely rare gangrene due to its axial torsion, especially in children, as is the case of our patients. An 11-year-old boy admitted to hospital due to 24 hours epigastric pain, vomiting and malaise. After a complete physical examination, and appropriate pre-surgical laboratory and radiographic tests, surgical exploration was performed with a midline abdominal incision. On 60th cm proximal to the ileocecal valve we found a long and in a narrow based ganrenous MD with axial torsion and fibrotic cord extending from the tip of MD to the ileal mesentery. Surrounding ileum had normal appearance. A demarcation and subsequent resection of MD and the surrounding ileum was performed with end-to-end ileal anastomosis. Postoperative recovery was successful and the patient was discharged after six days. Axial torsion of MD is presented with non-specific abdominal symptoms and difficult preoperative diagnosis. The choice of diagnosis and therapy is surgical exploration and resection of MD.

Symptomatic Meckel's diverticulum in newborn: two interesting additional cases and review of literature.

PubMed

Bertozzi, Mirko; Melissa, Berardino; Radicioni, Maurizio; Magrini, Elisa; Appignani, Antonino

2013-09-01

This study aimed to review the literature about symptomatic Meckel's diverticulum (MD) in the neonatal period with 2 additional uncommon cases. The authors describe 2 interesting neonatal cases of symptomatic MD and analyze the literature on this topic, with particular reference to the prevalence of sex, age at presentation, most common signs and symptoms, treatment, histology, associated anomalies, and outcome. The first patient was a term newborn with bowel obstruction by a pseudocystic MD. The second patient was a preterm infant with double perforation of the MD and ileum. Literature search for published case reports and case series on this topic reveals only 18 cases of neonatal symptomatic MD. Males are more frequently involved than females, and even preterm infants may be affected. Bowel obstruction (58.3%) and pneumoperitoneum (33.3%) are the most frequent clinical manifestation. Acute inflammation of the MD is the prominent histopathological finding (75%), although it does not seem to be related with the presence of heterotopic tissue within the MD. Surgical treatment is essential. The association of neonatal symptomatic MD with other anomalies is exceptional but is otherwise life threatening despite surgery. Bowel obstruction and pneumoperitoneum are the most frequent clinical manifestations of symptomatic MD in the newborn. Surgery is required for a definitive diagnosis and successful outcome.

Suppurative Meckel Diiverticulum in a 3-Year-Old Girl Presenting with Periumbilical Cellulitis

PubMed Central

Park, Ji Sook; Lim, Chun Woo; Park, Taejin; Cho, Jae-Min; Youn, Hee-Shang

2015-01-01

Meckel diverticulum (MD) is one of the most common congenital gastrointestinal anomalies and occurs in 1.2-2% of the general population. MD usually presents with massive painless rectal bleeding, intestinal obstruction or inflammation in children and adults. Suppurative Meckel diverticulitis is uncommon in children. An experience is described of a 3-year-old girl with suppurative inflammation in a tip of MD. She complained of acute colicky abdominal pain, vomiting and periumbilical erythema. Laparoscopic surgery found a relatively long MD with necrotic and fluid-filled cystic end, which was attatched to abdominal wall caused by inflammation. Herein, we report an interesting and unusual case of a suppurative Meckel diverticulitis presenting as periumbilical cellulitis in a child. Because of its varied presentations, MD might always be considered as one of the differential diagonosis. PMID:25866736

Enterobius vermicularis infestation leading to Meckel's diverticulitis in an adolescent boy: An extremely rare presentation.

PubMed

Sharma, Manupriya; Kaul, Rashmi; Chander, Bal

2018-01-01

Enterobius vermicularis is an intestinal nematode commonly affecting children worldwide. Its transmission is by feco-oral route. Meckel's diverticulitis due to E. vermicularis infestation is an extremely rare presentation. An 11-year-old boy presented with acute abdomen. During surgery inflamed Meckel's diverticulum (M.D) was seen. Histopathology examination of specimen revealed E. vermicularis . Till date, only one case of E. vermicularis infestation of M.D is reported around five decades ago. This histopathological confirmation is extremely important as the required treatment (Mebendazole) of the infected case along with household contacts can prevent the spread of infection and may avoid surgery in known contacts.

Outcomes of laparoscopic resection of Meckel's diverticulum are equivalent to open laparotomy.

PubMed

Ezekian, Brian; Leraas, Harold J; Englum, Brian R; Gilmore, Brian F; Reed, Christopher; Fitzgerald, Tamara N; Rice, Henry E; Tracy, Elisabeth T

2018-03-15

Meckel's diverticulum (MD) is a common congenital anomaly caused by failure of involution of the omphalomesenteric duct. Enthusiasm for minimally invasive surgery (MIS) in children has burgeoned as technologies have advanced, but the outcomes of laparoscopic resection in comparison to open laparotomy for MD remain poorly defined. We queried a large national database to compare current practice patterns and clinical outcomes between surgical approaches for MD in the pediatric population. The National Surgical Quality Improvement Program-Pediatric (NSQIP-Ped) database was queried for patients undergoing surgical intervention for MD (2011-2014). Patients were stratified by surgical approach. Baseline characteristics, intraoperative variables, and perioperative complications were compared by univariate analysis using Pearson's χ 2 test for categorical variables and Kruskall-Wallis test for continuous variables. Primary outcomes of interest were length of stay (LOS), rate of readmission, and 30-day mortality. Secondary outcomes included operative time, anesthesia time, postoperative complications, and rates of reoperation. A total of 148 cases of MD were identified, of which 73 (49.3%) were initially managed with a laparoscopic approach and 75 (50.7%) were managed with an open approach. We found a high rate of conversion from laparoscopy to an open approach (20/73 or 27.4%). The median age of the laparoscopic group was higher than the open group (8.3 vs. 2.5years, p<0.001). Operative and anesthesia time, LOS, 30-day mortality, post-operative complications, and rates of reoperation and readmission were similar between groups (all p>0.05). Nearly half of all resections for MD in children are now approached laparoscopically. This approach has equivalent outcomes to traditional open laparotomy. More widespread use of a hybrid approach with laparoscopy and exteriorization of the small bowel through an extended port site may facilitate avoiding open laparotomy. Routine

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?"

Acute appendicitis with unusual dual pathology

PubMed Central

Riddiough, Georgina E.; Bhatti, Imran; Ratliff, David A.

2011-01-01

INTRODUCTION 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. PRESENTATION OF CASE 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. DISCUSSION 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. CONCLUSION 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?” PMID:22288035

Meckel's Diverticulum

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... information applies to you and to get more information on this subject. Featured ContentSecondary DrowningRead Article >>Secondary DrowningSensory Processing Disorder (SPD)Read Article >>Sensory Processing Disorder (SPD) ...

The abdominal technetium scan (a decade of experience)

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

Cooney, D.R.; Duszynski, D.O.; Camboa, E.

1982-10-01

Out of 270 children with gastrointestinal symptoms, the indications for technetium scanning were: gastrointestinal tract bleeding (165 patients), abdominal pain (99 patients) and a history of intussusception (6 patients). Thirty children had abnormal findings, while the remaining 240 patients had normal scans. Four of the 30 children with positive scans were not explored, while the others underwent laparotomy. Of the 26 operated patients, 12 (46%) had a Meckel's diverticulum. Nine patients (34%) had other pathologic lesions that were detected by the scan. Five had true false positives as no pathologic lesions were found. Of the 240 children with negative scans,more » 19 were eventually explored because of persistent symptoms or clinical findings. Two of these had a Meckel's diverticulum. Eleven had a negative exploration while six had other surgical lesions. Technitium scan should reliably detect around 80%-90% of Meckel's diverticula. It will also accurately exclude the diagnosis of Meckel's diverticulum in over 90% of patients.« less

Intestinal obstruction caused by omphalomesenteric duct remnant: usefulness of laparoscopy.

PubMed

Bueno Lledó, J; Serralta Serra, A; Planeéis Roig, M; Dobón Giménez, F; Ibáñez Palacín, F; Rodero Rodero, R

2003-10-01

The anomalies related to omphalomesenteric duct remnant constitute an uncommon cause of intestinal obstruction, of which Meckel"s diverticulum and its variants represent the most important clinical presentation. In most cases they are asymptomatic and usually affect young patients. When symptomatic, they usually present episodes of gastrointestinal bleeding or acute abdomen syndromes caused by strangulation of intestinal loops as a result of fibrous intraabdominal remnants or inflammation produced by the diverticulum. In most cases, the unexpected presence of these alterations makes intraoperative diagnosis necessary. Treatment is surgical and consists in exeresis of the diverticulum or the fibrous band causing the clinical picture. We report two cases of persistence of the vitelline duct resolved by laparoscopic approach.

Histone methyltransferase Setdb1 is indispensable for Meckel's cartilage development.

PubMed

Yahiro, Kohei; Higashihori, Norihisa; Moriyama, Keiji

2017-01-22

The histone methyltransferase Setdb1 represses gene expression by catalyzing lysine 9 of histone H3 trimethylation. Given that the conventional knockout of Setdb1 is embryo-lethal at the implantation stage, its role in craniofacial development is poorly understood. Here, we investigated the role of Setdb1, using conditional knockout mice-in which Setdb1 was deleted in the Meckel's cartilage (Setdb1 CKO)-and the mouse chondrogenic cell line ATDC5-in which Setdb1 was inhibited by siRNA. Deletion of Setdb1 in Meckel's cartilage, the supportive tissue in the embryonic mandible, led to its enlargement, instead of the degeneration that normally occurs. Chondrocytes from the Meckel's cartilage of Setdb1 CKO mice showed increased size. Furthermore, at embryonic days 16.5 and 18.5, part of the perichondrium was disrupted and mineralization was observed in the Meckel's cartilage. Proliferation analysis showed that inhibition of Setdb1 caused increased proliferation in chondrocytes in the Meckel's cartilage as well as in ATDC5 cells. Quantitative RT-PCR showed decreased expression of chondrogenic genes, such as Sox9, Mmp13, Collagen II, and Aggrecan, as a result of Setdb1 inhibition in ATDC5 cells. Along with these phenomenons, SMAD-dependent BMP signaling was significantly increased by the loss of Setdb1 in both the Meckel's cartilage of Setdb1 CKO mice and ATDC5 cells. Therefore, the abnormal development of Meckel's cartilage in Setdb1 CKO mice is partly due to the enhanced SMAD-dependent BMP signaling. Overall, to our knowledge, the present study is the first to show that epigenetic regulation by Setdb1 is indispensable for the embryonic development of Meckel's cartilage. Copyright © 2016. Published by Elsevier Inc.

Neonatal intestinal volvulus and preduodenal portal vein associated with situs ambiguus: report of a case.

PubMed

Watanabe, Toshihiko; Nakano, Miwako; Yamazawa, Kazuki; Maeyama, Katsuhiro; Endo, Masao

2011-05-01

Situs ambiguus is a rare lateralization anomaly that is frequently associated with other malformations, including preduodenal portal vein (PDPV), intestinal malrotation, and cardiovascular anomalies. This is a case report on a newborn that was clinically diagnosed with situs ambiguus and midgut volvulus. During surgery the patient was found to have intestinal malrotation, Meckel's diverticulum, and PDPV that was not a direct cause of duodenal obstruction. The patient was treated with Ladd's procedure and resection of Meckel's diverticulum. It is important to be familiar with the spectrum of situs anomalies to prevent trauma to the portal vein with serious complications during surgery.

[Genealogy of the Meckel anatomy family (from Hem[b]sbach)].

PubMed

Viebig, Michael; Schultka, Rüdiger

2002-11-01

The main goal of our investigations is to complete the genealogy of the famous Meckel dynasty. It is important to answer a lot of questions which have remained unanswered until now. During the investigations we were able to find the names of three children who died early and were dissected by their father Philipp Friedrich Theodor Meckel (1755-1803). Besides, it was possible to extend distinctly our knowledge of the various genealogical lines of the Meckel family.

Meckel's cave access: anatomic study comparing the endoscopic transantral and endonasal approaches.

PubMed

Van Rompaey, Jason; Suruliraj, Anand; Carrau, Ricardo; Panizza, Benedict; Solares, C Arturo

2014-04-01

Recent advances in endonasal endoscopy have facilitated the surgical access to the lateral skull base including areas such as Meckel's cave. This approach has been well documented, however, few studies have outlined transantral specific access to Meckel's. A transantral approach provides a direct pathway to this region obviating the need for extensive endonasal and transsphenoidal resection. Our aim in this study is to compare the anatomical perspectives obtained in endonasal and transantral approaches. We prepared 14 cadaveric specimens with intravascular injections of colored latex. Eight cadavers underwent endoscopic endonasal transpterygoid approaches to Meckel's cave. Six additional specimens underwent an endoscopic transantral approach to the same region. Photographic evidence was obtained for review. 30 CT scans were analyzed to measure comparative distances to Meckel's cave for both approaches. The endoscopic approaches provided a direct access to the anterior and inferior portions of Meckel's cave. However, the transantral approach required shorter instrumentation, and did not require clearing of the endonasal corridor. This approach gave an anterior view of Meckel's cave making posterior dissection more difficult. A transantral approach to Meckel's cave provides access similar to the endonasal approach with minimal invasiveness. Some of the morbidity associated with extensive endonasal resection could possibly be avoided. Better understanding of the complex skull base anatomy, from different perspectives, helps to improve current endoscopic skull base surgery and to develop new alternatives, consequently, leading to improvements in safety and efficacy.

Genetics Home Reference: Meckel syndrome

MedlinePlus

... when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with ...

Congenital Vitelline Band Causing Intestinal Obstruction in an Adult with a Double Inferior Vena Cava

PubMed Central

Pussepitiya, Kumari; Samarasinghe, Bandula; Wickramasinghe, Nuwan

2016-01-01

Introduction. Vitelline artery remnants are rare causes of intra-abdominal bands leading to bowel obstruction. These bands may be associated with Meckel's diverticulum. Double inferior vena cava (IVC) is a rare presentation and is usually identified incidentally. Case Presentation. A sixty-year-old male presented with progressive vomiting for five days and he was clinically diagnosed with intestinal obstruction. Plain X-ray abdomen showed evidence of small bowel obstruction. CT scan of the abdomen revealed dilated small bowel loops with a small outpouching in the distal ileum with a band like structure attached to it. In the CT, left sided patent IVC draining into the left renal vein was identified. Left external iliac vein was in continuity with the left IVC. Left internal iliac vein was draining into the right IVC. Exploratory laparotomy revealed a Meckel's diverticulum with a band identified as the vitelline remnant attached to its apex and inserting at the anterior abdominal wall near the umbilicus. Discussion. Meckel's diverticulum with vitelline bands, although rare, should be borne in mind in adult patients with intestinal obstruction. Identification of this anomaly can be difficult in imaging studies. Presence of double IVC should be mentioned in the imaging findings to prevent possible catastrophic complications during surgery. PMID:27843667

Esophageal epiphrenic diverticulum associated with diffuse esophageal spasm.

PubMed

Matsumoto, Hideo; Kubota, Hisako; Higashida, Masaharu; Manabe, Noriaki; Haruma, Ken; Hirai, Toshihiro

2015-01-01

Esophageal diverticulum, a relatively rare condition, has been considered to be associated with motor abnormalities such as conditions that cause a lack of coordination between the distal esophagus and lower esophageal sphincter. We herein report a case of esophageal epiphrenic diverticulum associated with diffuse esophageal spasm. A 73-year-old woman presented with dysphagia and regurgitation. Imaging examinations revealed a right-sided esophageal diverticulum located about 10cm above the esophagogastric junction. High-resolution manometry revealed normal esophageal motility. However, 24-h pH monitoring revealed continuous acidity due to pooling of residue in the diverticulum. An esophageal epiphrenic diverticulum was diagnosed and resected thoracoscopically. Her dysphagia recurred 2 years later. High-resolution manometry revealed diffuse esophageal spasm. The diverticulum in the present case was considered to have been associated with diffuse esophageal spasm. The motility disorder was likely not identified at the first evaluation. In this case, the patient's symptoms spontaneously resolved without any treatment; however, longer-term follow-up is needed. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Functional results in endoscopic Zenker's diverticulum surgery.

PubMed

Dissard, A; Gilain, L; Pastourel, R; Mom, T; Saroul, N

2017-10-01

The main objective of this retrospective study was to assess functional results in endoscopic Zenker's diverticulum surgery. The secondary objectives were to assess safety, identify recurrence risk factors, and determine optimal management of recurrence. From 2000 to 2014, 50 patients underwent endoscopic surgery for marsupialization of Zenker's diverticulum. Regurgitation and dysphagia were assessed on the FOIS scale, pre- and post-operatively. Recurrences and complications rates were determined retrospectively at a minimum 18 months' follow-up. Regurgitation and dysphagia improved in respectively 96% and 86% of patients. There was a 12% rate of complications, mostly minor. Mean hospital stay and time to return to oral feeding were 2.0 and 1.3 days respectively. Nine patients (18%) showed recurrence of symptoms, requiring revision surgery at a mean 2.7 years, performed endoscopically in the majority of cases. Only one recurrence risk factor was identified: small diverticulum size. Endoscopic Zenker's diverticulum surgery provided functional improvement in most cases. Safe and effective, it is currently the treatment of choice for Zenker's diverticulum. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Lack of cilia and differentiation defects in the liver of human foetuses with the Meckel syndrome.

PubMed

Clotman, Frédéric; Libbrecht, Louis; Killingsworth, Murray C; Loo, Christine C K; Roskams, Tania; Lemaigre, Frédéric P

2008-03-01

Meckel syndrome is an autosomal-recessive disease characterized by a combination of renal cysts, anomalies of the central nervous system, polydactyly and ductal plate malformations (DPM), which are hepatic anomalies consisting of excessive and abnormal foetal biliary structures. Among the genomic loci associated with Meckel syndrome, mutations in four genes were recently identified. These genes code for proteins associated with primary cilia and are possibly involved in cell differentiation. The aim of the present work was to investigate the formation of the primary cilia and the differentiation of the hepatic cells in foetuses with Meckel syndrome. Sections of livers from human foetuses with Meckel syndrome were analysed by immunofluorescence, immunohistochemistry and electron microscopy. The primary cilia of the biliary cells were absent in some Meckel foetuses, but were present in others. In addition, defects in hepatic differentiation were observed in Meckel livers, as evidenced by the presence of hybrid cells co-expressing hepatocytic and biliary markers. Defects in cilia formation occur in some Meckel livers, and most cases show DPM associated with abnormal hepatic cell differentiation. Because differentiation precedes the formation of the cilia during liver development, we propose that defective differentiation may constitute the initial defect in the liver of Meckel syndrome foetuses.

Clinical Conundrum: Killian-Jamieson Diverticulum with Paraesophageal Hernia.

PubMed

Bock, Jonathan M; Knabel, Michael J; Lew, Daniel A; Knechtges, Paul M; Gould, Jon C; Massey, Benson T

2016-08-01

Killian-Jamieson diverticulum is a outpouching of the lateral cervical esophageal wall adjacent to the insertion of the recurrent laryngeal to the larynx and is much less common in clinical practice than Zenkers Diverticulum. Surgical management of Killian-Jamieson diverticulum requires open transcervical diverticulectomy due to the proximity of the recurrent laryngeal nerve to the base of the pouch. We present a case of a Killian-Jamieson diverticulum associated with a concurrent large type III paraesophageal hernia causing significant solid-food dysphagia, post-prandial regurgitation of solid foods, and chronic cough managed with open transcervical diverticulectomy and laparoscopic paraesophageal hernia repair with Nissen fundoplication.

Spontaneous Rupture of Adenocarcinoma of Meckel’s Diverticulum- A Rare Entity

PubMed Central

2015-01-01

Meckel’s diverticulum is a true diverticulum from remnant of vitelline duct. It is most common congenital anomaly of intestine. It is associated with intestinal atresia and anorectal anomalies. It contains heterotrophic epithelium. Most common heterotrophic mucosa is gastric followed by pancreatic tissue. Adenocarcinoma arising from Meckel’s diverticulum is very rare. Spontaneous perforation of adenocarcinoma rarely reported. Most of perforation reported in Meckel’s diverticulum diagnosed during intraoperative period. This is a case report of spontaneous rupture of adenocarcinoma of Meckel’s diverticulum, which was managed with primary resection and ileostomy. PMID:26672729

Meckel syndrome in different populations.

PubMed

Lurie, I W; Prytkov, A N; Meldere, L V

1984-08-01

We report on 18 infants from 13 families where the infant was affected with the Meckel syndrome. The parents belong to various national groups--Russians, Byelorussians, Poles, Ukranians, Letts, and Tatars. One child was from an incestuous union (half-sister and half-brother), in 4 families the parents were natives of the same or neighboring villages; other parents apparently were not related. Excluding 3 couples from Central Russia, the Ukraine, and Tatary, the other 10 families were the inhabitants of the Moscow region, Byelorussia, and Latvia. In 3 of these families at least one grandparent was of Tatar descent. At the same time the frequency of Tatars in these regions is less than 1%. Using the Newton binomial distribution it was shown that the hypothesis about equal frequency of the Meckel syndrome gene among Tatars and other national groups under study may be excluded completely, and therefore the alternative hypothesis about an unusually high frequency of this gene among Tatars must be accepted. Such analysis may be useful for comparative evaluation of gene frequencies in populations which cannot be studied directly.

Neonatal prolapsed patent vitellointestinal duct.

PubMed

Patel, Ramnik V; Kumar, Hemant; Sinha, C K; Patricolo, Mario

2013-07-10

A case of a prolapsed patent vitellointestinal duct (PVID) in a 10-day-old neonate who presented with vomiting and poor weight gain with partial intestinal obstruction and a flower like pink, prolapsing lesion at his umbilicus has been reported. A limited contrast study through the tubular structure confirmed it to be a PVID. He underwent transumbilical exploration and resection and anastomosis uneventfully. Persistence of the vitellointestinal duct as a whole or part of it leads to a wide variety of anomalies-Meckel's diverticulum is the commonest lesion and a PVID is the rarest. Umbilical cord clamping flush with the abdominal wall may convert a Meckel's diverticulum prolapsing in the base of umbilical ring into a PVID. Careful assessment should be made for associated anomalies. Transumbilical exploration gives the best cosmetic and functional results.

Giant Sigmoid Diverticulum: A Rare Presentation of a Common Pathology

PubMed Central

Guarnieri, A.; Cesaretti, M.; Tirone, A.; Francioli, N.; Piccolomini, A.; Vuolo, G.; Verre, L.; Savelli, V.; Di Cosmo, L.; Carli, A.F.

2009-01-01

Although colonic diverticulum is a common disease, affecting about 35% of patients above the age of 60, giant sigmoid diverticulum is an uncommon variant of which only relatively few cases have been described in the literature. We report on our experience with a patient affected by giant sigmoid diverticulum who was treated with diverticulectomy. Resection of the diverticulum is a safe surgical procedure, provided that the colon section close to the lesion presents no sign of flogosis or diverticula; in addition, recurrences are not reported after 6-year follow-up. PMID:20651957

The endoscopic stapler diverticulotomy for Zenker's diverticulum.

PubMed

Manni, Johannes J; Kremer, Bernd; Rinkel, Rico N P M

2004-02-01

This paper describes the surgical procedure of the endoscopic stapler treatment of Zenker's diverticulum and analyzes the results of 24 consecutive operated patients. In three patients the endoscopic exposure of the diverticulum was not possible. Twenty-one patients underwent endoscopic stapler treatment without any peri- or postoperative complications. The follow-up period was 4 to 29 months (average 18 months). The average total time for surgery was 25 min. Postoperatively, a nasogastric feeding tube was not necessary: all patients resumed oral intake 12 h after surgery. Discharge from the hospital followed the 2nd postoperative day. All patients had complete or nearly complete resolution of symptoms at the 4-month follow-up. Recurrent complaints were an indication for repeat of the contrast barium esophagram. Two patients revealed a residual diverticulum 7 and 11 months after treatment. In comparison with results and complication rates in the literature of the external, transcutaneous techniques and endoscopic diverticulotomy procedures, the endoscopic stapler treatment of Zenker's diverticulum is a safe, (cost-)effective and minimally invasive method and to be considered as the initial treatment of choice.

Roles of FGFR3 during morphogenesis of Meckel's cartilage and mandibular bones

PubMed Central

Havens, Bruce A.; Velonis, Dimitris; Kronenberg, Mark S.; Lichtler, Alex C.; Oliver, Bonnie; Mina, Mina

2008-01-01

To address the functions of FGFR2 and FGFR3 signaling during mandibular skeletogenesis, we over-expressed in the developing chick mandible, replication-competent retroviruses carrying truncated FGFR2c or FGFR3c that function as dominant negative receptors (RCAS-dnFGFR2 and RCAS-dnFGFR3). Injection of RCAS-dnFGFR3 between HH15−20 led to reduced proliferation, increased apoptosis, and decreased differentiation of chondroblasts in Meckel's cartilage. These changes resulted in the formation of a hypoplastic mandibular process and truncated Meckel's cartilage. This treatment also affected the proliferation and survival of osteoprogenitor cells in osteogenic condensations, leading to the absence of five mandibular bones on the injected side. Injection of RCAS-dnFGFR2 between HH15−20 or RCAS-dnFGFR3 at HH26 did not affect the morphogenesis of Meckel's cartilage but resulted in truncations of the mandibular bones. RCAS-dnFGFR3 affected the proliferation and survival of the cells within the periosteum and osteoblasts. Together these results demonstrate that FGFR3 signaling is required for the elongation of Meckel's cartilage and FGFR2 and FGFR3 have roles during intramembranous ossification of mandibular bones. PMID:18339367

[Zenker diverticulum: a case report].

PubMed

Kocatürk, Sinan; Beriat, Güçlü Kaan; Doğan, Cem

2009-01-01

Zenker's diverticulum is a pulsion typed pharyngoeosophageal diverticle caused by the herniation of the pharyngeal mucosa, standing beside the posterior pharyngeal wall, through the Killian opening which is known as the weak area between the inferior constructor muscle's oblique fibres and transverse fibres of cricopharyngeal muscle. In patients with Zenker's diverticulum, symptoms such as disfagia, globus in the cervical area, weigh loss, regurgitation, cough, and aspiration. These patients are primarily admitted to the Gastroenterology and Othorhinolaryngology clinics with the complaint of disfagia and the diagnosis of this disease is mostly established late and the treatment is started late because the results of their physical examinations seem normal. Therefore, especially in the patients who have disfagia complaint, pharyngoeosophageal diverticle prediagnosis should be thought and that should be examined by passage graphies with barium and endoscopic methods, if needed. In this article, we presented the 67-year-old Zenker's diverticulum patient in whom we performed open diverticulectomy and posterior cricopharyngeal myotomy, and we specified the important points in choosing the patient and the type of surgery.

Neonatal prolapsed patent vitellointestinal duct

PubMed Central

Patel, Ramnik V; Kumar, Hemant; Sinha, C K; Patricolo, Mario

2013-01-01

A case of a prolapsed patent vitellointestinal duct (PVID) in a 10-day-old neonate who presented with vomiting and poor weight gain with partial intestinal obstruction and a flower like pink, prolapsing lesion at his umbilicus has been reported. A limited contrast study through the tubular structure confirmed it to be a PVID. He underwent transumbilical exploration and resection and anastomosis uneventfully. Persistence of the vitellointestinal duct as a whole or part of it leads to a wide variety of anomalies–Meckel's diverticulum is the commonest lesion and a PVID is the rarest. Umbilical cord clamping flush with the abdominal wall may convert a Meckel's diverticulum prolapsing in the base of umbilical ring into a PVID. Careful assessment should be made for associated anomalies. Transumbilical exploration gives the best cosmetic and functional results. PMID:23845681

Asymmetric Meckel Cave Enlargement: A Potential Marker of PHACES Syndrome.

PubMed

Wright, J N; Wycoco, V

2017-06-01

PHACES syndrome is a complex of morphologic abnormalities of unknown cause and includes posterior fossa abnormalities; head and neck infantile hemangiomas; arterial, cardiac, and eye anomalies; and sternal or abdominal wall defects. Accurate identification of the syndrome is important for optimal treatment. The purpose of this study was to investigate the incidence of asymmetric Meckel cave enlargement, a potential novel imaging marker, in a population of patients referred for evaluation of possible PHACES syndrome. Eighty-five patients referred for neuroimaging evaluation of possible PHACES syndrome were identified and stratified on the basis of their ultimate clinical PHACES diagnosis categorization into PHACES, possible PHACES, or not PHACES. MR imaging studies were subsequently reviewed for the presence or absence of unilateral Meckel cave enlargement, with the reviewer blinded to the ultimate PHACES syndrome categorization. Twenty-five of 85 patients (29%) were ultimately categorized as having PHACES or possible PHACES according to consensus guidelines. Asymmetric Meckel cave enlargement was present in 76% (19/25) of these patients and in 82% (19/23) of only those patients with definite PHACES. This finding was present in none of the 60 patients determined not to have PHACES syndrome. In 7/19 patients (37%) with this finding, subtle MR imaging abnormalities consistent with PHACES were missed on the initial MR imaging interpretation. Asymmetric Meckel cave enlargement was a common feature of patients with PHACES in our cohort and may serve as a novel imaging marker. Increased awareness of this imaging feature has the potential to increase the diagnostic accuracy of PHACES. © 2017 by American Journal of Neuroradiology.

Genetics of the Meckel Syndrome (Dysencephalia Splanchnocystica)

ERIC Educational Resources Information Center

Hsia, Y. E.; And Others

1971-01-01

Reported are seven cases in two families of the Meckel syndrome, whose key features are occipital encephalocele, cleft lip and palate, polydactyly, and polycystic kidneys. Evidence supports the hypothesis that the syndrome is a recessively inherited condition, determined by homozygous expression of a single autosomal gene. (Author/KW)

Impacted anterior urethral calculus complicated by a stone-containing diverticulum in an elderly man: outcome of transurethral lithotripsy without resection of the diverticulum.

PubMed

Zhou, Tie; Chen, Guanghua; Zhang, Wei; Peng, Yonghan; Xiao, Liang; Xu, Chuangliang; Sun, Yinghao

2013-01-01

The prevalence of lower urinary tract symptoms (LUTS) is about 20% in men aged 40 or above. Other than benign prostatic hyperplasia (BPH), urethral diverticulum or calculus is not uncommon for LUTS in men. Surgical treatment is often recommended for urethral diverticulum or calculus, but treatment for an impacted urethral calculus complicated by a stone-containing diverticulum is challenging. An 82-year-old man had the persistence of LUTS despite having undergone transurethral resection of prostate for BPH. Regardless of treatment with broad spectrum antibiotics and an α-blocker, LUTS and post-void residual urine volume (100 mL) did not improve although repeated urinalysis showed reduction of WBCs from 100 to 10 per high power field. Further radiology revealed multiple urethral calculi and the stone configuration suggested the existence of a diverticulum. He was successfully treated without resecting the urethral diverticulum; and a new generation of ultrasound lithotripsy (EMS, Nyon, Switzerland) through a 22F offset rigid Storz nephroscope (Karl Storz, Tuttingen, Germany) was used to fragment the stones. The operative time was 30 minutes and the stones were cleanly removed. The patient was discharged after 48 hours with no immediate complications and free of LUTS during a 2 years follow-up. When the diverticulum is the result of a dilatation behind a calculus, removal of the calculus is all that is necessary. Compared with open surgery, ultrasound lithotripsy is less invasive with little harm to urethral mucosa; and more efficient as it absorbs stone fragments while crushing stones.

Female urethral diverticulum containing a giant calculus: a CARE-compliant case report.

PubMed

Dong, ZhiLong; Wang, Hanzhang; Zuo, LinJun; Hou, MingLi

2015-05-01

Urethral diverticula with calculi have a low incidence as reported in the literature. Diverticulum of female urethra is rare, often discovered due to associated complications. We report a case of diverticulum of the female urethra containing giant calculi in a 62-year-old multiparous woman. She consulted with our office due to dysuria and a hard, painful periurethral mass in the anterior vagina wall. The diverticulum was approached surgically by a vaginal route, and local extraction of the calculi and subsequent diverticulectomy successfully treated the condition.Diagnosis of a complicated diverticulum can be easily achieved if one possesses a high degree of clinical symptoms.

Extravasation of contrast material from vascular ectasia of the cecum detected with /sup 99m/Tc-pertechnetate

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

Tavormina, A.; Mousavi, A.; Gordon, D.H.

A case of vascular ectasia of the cecum is presented. The isotopic pattern did not differ from that of Meckel's diverticulum. The authors suggest that studies with /sup 99m/Tc may be helpful in screening for areas of pathology in cases of lower gastrointestinal bleeding.

Laparoscopic Transhiatal Treatment of Large Epiphrenic Esophageal Diverticulum

PubMed Central

Casella, Giovanni; Recchia, Carlo Luigi; Bianchi, Ermanno; Lomartire, Nazzareno

2008-01-01

Background: Epiphrenic diverticulum is an uncommon disorder of the distal third of the esophagus. We report the case of a 73-year-old woman with a large symptomatic esophageal epiphrenic diverticulum, diffuse nonspecific esophageal dysmotility, and a hiatal hernia. Methods: Surgery was indicated by the patient's symptoms, the size of the diverticulum (maximum diameter 10 cm), and the associated esophageal motor disorder. Preoperative study included barium swallow, upper gastrointestinal endoscopy, and esophageal manometry. A laparoscopic transhiatal diverticulectomy associated with a Heller myotomy, hiatoplasty, and a Dor's fundoplication was carried out. The overall operative time was 230 minutes. Results: No intraoperative complications occurred. Gastrografin swallow performed on postoperative day 4 did not show any signs of leakage from the staple line. The postoperative hospital stay was 5 days. The patient was readmitted 10 days after discharge complaining of fever and chest pain. A new Gastrografin swallow demonstrated a small leak from the staple line successfully treated with 3 weeks of total enteral nutrition. Conclusion: The laparoscopic approach to epiphrenic diverticulum is feasible. Postoperative Gastrografin swallow is not 100% sensitive in detecting small suture-line leaks if a preexisting esophageal motility disorder is present. In case of late postoperative fever and pleural effusion, a suture-line leak should be suspected. Conservative management of the small suture-line leak should be considered as an effective therapeutic option. PMID:18402751

Management of infected urethral diverticulum with urethral dilation.

PubMed

Lazarou, George; Andrikopoulou, Maria; Cho, Sylvia

2015-01-01

Urethral diverticula are rare but underdiagnosed entities that may cause a variety of urinary and pelvic symptoms in women. Management can be very challenging, especially in cases of chronic infection. A 69-year-old gravida 4, para 2 woman with a history of type 2 diabetes and hypothyroidism presented with long history of a painful midline 3-cm suburethral cystic mass, recurrent urinary tract infections, dysuria, dyspareunia, and incomplete voiding. The diagnosis was consistent with an infected urethral diverticulum unresponsive to multiple courses of oral antibiotics. Given the patient's comorbidities and the persistence of infection of the diverticulum, conservative treatment with urethral dilation was performed before surgical treatment. Urethral dilation successfully alleviated the patient's symptoms; the surgical treatment was not ultimately required, and the patient continues to be completely asymptomatic well over 17 months later. We present a unique case of infected urethral diverticulum, which was conservatively treated with dilatation and resulted in resolution of all symptoms, and there is no need for further surgical management.

Reverse intestinal rotation: a rare case of volvulus around a vitelline duct remnant

PubMed Central

Dreyer, Stephan; Kaczynski, Jakub; Hrobar, Petr; Collins, Patrick

2014-01-01

We present a rare case of reverse intestinal rotation with volvulus around a Meckel's diverticulum attached to a vitelline duct remnant. The diagnosis was established by CT. The patient was treated with exploratory laparotomy and small bowel resection. The patient made a full recovery and was discharged home on the seventh postoperative day. PMID:25246458

Giant Colonic Diverticulum: a Rare Diagnostic and Therapeutic Challenge of Diverticular Disease.

PubMed

Macht, Ryan; Sheldon, Holly K; Fisichella, P Marco

2015-08-01

A giant colonic diverticulum is a diverticulum of the colon greater than 4 cm in diameter that can present, albeit rarely, as a complication of diverticular disease. We discuss the three different histologic subtypes that have been described and the challenges in the diagnosis and treatment.

Iatrogenic perforation of perivaterian duodenal diverticulum: report of a case

PubMed Central

Cavanagh, James E.

1996-01-01

The author reports a case of iatrogenic perforation of a duodenal diverticulum, an extremely rare occurrence, during percutaneous radiologic extraction of a retained common-bile-duct stone. Perforation was related to the perivaterian location of the duodenal diverticulum. Because an inflammatory reaction was present, tube duodenostomy was chosen over excision, closure and drainage to prevent the complication of lateral duodenal fistula and sepsis. Whenever iatrogenic duodenal perforation is suspected, prompt radiologic documentation and early surgical consultation should be sought. PMID:8697327

Stent-Assisted Coil Embolization of a Transverse-Sigmoid Sinus Diverticulum Presenting with Pulsatile Tinnitus.

PubMed

Li, Baomin; Lv, Xianli; Wu, Zhongxue; Cao, Xiangyu; Wang, Jun; Ge, Aili; Liu, Xinfeng; Li, Sheng

When tinnitus is pulse-synchronous, a vascular etiology is suggested. We present a case of persistent and troublesome pulsatile tinnitus caused by a transverse-sigmoid sinus diverticulum that was endovascularly treated with stent-assisted coiling. A 39-yearold woman presented with a 4-year history of progressive pulsatile tinnitus involving the right ear. Slight pulsatile bruit was heard on the right mastoid bone by auscultation. Cerebral angiography demonstrated a diverticulum of the transverse-sigmoid sinus. The procedure was performed with an 8F guiding catheter (Cordis, USA) catheterized into the right sigmoid sinus. The diverticulum was completely coiled following deployment of a 5.5 mm-50 mm Leo stent. This patient awakened without any neurological deficit and with immediate resolution of her tinnitus. This case report describes a stent-assisted coil embolization of venous sinus diverticulum, which provides immediate resolution of pulsatile tinnitus.

Assessment of the Results of Surgical Treatment of Zenker'S Diverticulum in Own Material.

PubMed

Bobkiewicz, Adam; Banasiewicz, Tomasz; Krokowicz, Łukasz; Dryjas, Andrzej; Wykrętowicz, Mateusz; Katulska, Katarzyna; Borejsza-Wysocki, Maciej; Malinger, Stanisław; Drews, Michał

2015-03-01

Zenker diverticulum (ZD) is the most common type of diverticula of the esophagus. Most often refers to men with a peak incidence in the seventh and eighth decade of life. In the majority diverticula remains asymptomatic and in patients with symptomatic course of the disease symptoms are often nonspecific. Aim of the study was to present the authors' own experience in surgical treatment of Zenker diverticulum. In this paper we present an analysis of 31 patients with confirmed ZD treated surgically at the Clinic in 2004-2014. Patients were analyzed in terms of age, gender, clinical symptoms, diverticulum size, type of surgery, the time to return to the oral intake, hospital stay and perioperative complications. 22 men and 9 women were enrolled it this study. The mean age of the patients was 64.8 (SD, 10.7; in the range of 28 to 82 years). 29 patients (93.5%) underwent resection of the diverticulum, while diverticulopexy was performed in two patients. In 25 (80.6%) cases stapler device was used, while in 4 (12.9%) resection was performed manually. The average size of resected diverticulum was 4.9 cm (SD, 1.5). Following the surgery in four patients (12.9%) complications were present. The average operating time was 118.7 minutes (SD, 42.2, in the range of 50 to 240 minutes). The mean length of hospital stay was 9.3 (SD, 3.3). Surgical treatment of ZD is associated with high effectiveness and low recurrence rate. Despite the advantages of endoscopic techniques, surgical treatment is characterized by one- stage procedure. The use of mechanical suture (stapler) significantly improves the operation, although on the basis of our own analysis there was no superiority revealed over hand sewn. Unquestionable adventage of classical technique is the opportunity to histopathological evaluation of resected diverticulum what is impossible to achieve in endoscopic techniques.

Giant midesophageal diverticulum presenting as food impaction: case report and review of the literature.

PubMed

Hadi, Usamah; Rameh, Charbel

2007-01-01

A giant midesophageal diverticulum is a medical rarity that is usually asymptomatic, and discovered incidentally. We report a case of a giant midesophageal diverticulum that revealed itself secondary to food impaction. A literature review on epidemiology, etiology, clinical presentation, investigations, and management of giant midesophageal diverticula will be highlighted.

Laparotomy and intraoperative enteroscopy for obscure gastrointestinal bleeding before and after the era of video capsule endoscopy and deep enteroscopy: a tertiary center experience

PubMed Central

Manatsathit, Wuttiporn; Khrucharoen, Usah; Jensen, Dennis M.; Hines, O. Joe; Kovacs, Thomas; Ohning, Gordon; Jutabha, Rome; Ghassemi, Kevin; Dulai, Gareth S.; Machicado, Gustavo

2017-01-01

Background To evaluate roles of intraoperative endoscopy (IOE) in management of severe obscure GI bleeding (OGIB) before vs. after introduction of video capsule endoscopy (VCE) and deep enteroscopy (DE). Methods We retrospectively reviewed prospectively collected data of patients undergoing IOE for severe OGIB in a tertiary referral center. Results 52 patients had laparotomy/IOE for OGIB, 11 pre and 41 post VCE/DE eras. In the pre VCE/DE era, 36.4% (4/11) had preoperative presumptive diagnoses while in the post VCE/DE era presumptive diagnoses were made in 48.8% (20/41) (p= 0.18). Preoperative evaluation led to correct diagnoses in 18.2% (2/11) in the pre and 51.2% (21/41) in the post VCE/DE era (p=0.09). Vascular lesions and ulcers were the most common diagnoses, but rebleeding was common. No rebleeding was found among patients with tumors, Meckel's diverticulum, and aortoenteric fistula. Conclusions Presumptive diagnoses in the post VCE/DE era were usually accurate. If VCE or DE are negative, the probability of negative IOE is high. Patients with tumors and Meckel's diverticulum were the best candidates for IOE. PMID:28629608

Crouzon’s Syndrome with Life-Threatening Ear Bleed: Ruptured Jugular Vein Diverticulum Treated by Endovascular Embolization

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

Mondel, Prabath Kumar, E-mail: prabathmondel@gmail.com; Anand, Sunanda, E-mail: sunandaanand@gmail.com; Limaye, Uday S., E-mail: uslkem@gmail.com

Crouzon’s syndrome is the commonest variety of syndromic craniosynostosis. Life-threatening ear bleed due to ruptured jugular venous diverticulum in Crouzon’s syndrome has not been described previously. In patients with syndromic craniosynostosis, definitive repair of jugular diverticulum by open surgery is fraught with high risk of bleeding, poor functional outcomes, and even death. A 24-year-old woman with Crouzon’s syndrome presented with conductive hearing loss and recurrent episodes of torrential bleeding from her left ear. On computed tomography, a defect in the roof of jugular fossa containing jugular venous diverticulum immediately inferior to the bony external auditory canal was seen. The clinicalmore » presentation, imaging features, and endovascular management of Crouzon’s syndrome due to a ruptured jugular venous diverticulum is described.« less

Management of congenital bladder diverticulum in children: A report of seven cases.

PubMed

Khemakhem, Rachid; Ghorbel, Sofiane; Jlidi, Said; Nouira, Faouzi; Louati, Héla; Douira, Wiem; Chennoufi, Faouzia; Bellagha, Ibtisem; Chaouachi, Béji

2013-01-01

The purpose of the study is to present the author's experience with congenital bladder diverticula in seven pediatric patients at a developing world tertiary care center. Records of seven patients diagnosed and treated as congenital bladder diverticulum, from January 1998 to December 2009 were retrospectively reviewed for age, sex, clinical symptoms, investigative work-up, operative notes, and postoperative follow-up. All patients were males. Age at presentation ranged from six months to six years (mean three years and six months). All were manifested postnatally by urinary tract infection in four cases, bladder retention in three cases and abdominal pain in two cases. Diagnosis was suggested by ultrasound and confirmed by voiding cystourethrography (VCUG) in all cases and urethrocystoscopy in three cases. Open surgical excision of diverticulum was done in all the patients associated with ureteral reimplantation in four patients with VCUG-documented high-grade vesicoureteral reflux (VUR). Average follow-up was four years; there is a resolution of symptoms and no diverticulum recurrence at the defined mean follow-up. Recurrent urinary tract infections and voiding dysfunction in pediatric population should always be evaluated for congenital bladder diverticulum. Investigations such as abdominal ultrasound, VCUG and nuclear renal scanning, form an important part of preoperative diagnostic work-up and postoperative follow up. Diverticulectomy with ureteral reimplantation in case of high-grade reflux, provides good results without recurrence.

Dural diverticulum with a symptomatic cerebrospinal fluid leak.

PubMed

Armstrong, Nicholas; Williamson, Clinton; Williamson, Natalie; Fortes, Manuel; Tjauw, Iwan; Vij, Vikas; Trojan, Ryan

2016-03-01

A case report of a 63-year-old female patient with a cervical spinal dural diverticulum and intracranial hypotension secondary to a symptomatic CSF leak after minor trauma. The patient responded well after the cervical approach epidural blood patch procedure.

Changes in Swallowing-related Quality of Life After Endoscopic Treatment For Zenker's Diverticulum Using SWAL-QOL Questionnaire.

PubMed

Colpaert, C; Vanderveken, O M; Wouters, K; Van de Heyning, P; Van Laer, C

2017-06-01

Dysphagia affects the most cardinal of human functions: the ability to eat and drink. The aim of this prospective study was to evaluate swallowing dysfunction in patients diagnosed with Zenker's diverticulum using the Swallowing Quality of Life (SWAL-QOL) questionnaire preoperatively. In addition, SWAL-QOL was used to assess changes in the outcome of swallowing function after endoscopic treatment of Zenker's diverticulum compared to baseline. Pre- and postoperative SWAL-QOL data were analyzed in 25 patients who underwent endoscopic treatment of Zenker's diverticulum between January 2011 and December 2013. Patients were treated by different endoscopic techniques, depending on the size of the diverticulum: CO 2 laser technique or stapler technique, or the combination of both techniques used in larger diverticula. Their mean age was 69 years, and 28% of patients were female. The mean interval between endoscopic surgery and completion of the postoperative SWAL-QOL was 85 days. The median (min-max) preoperative total SWAL-QOL score was 621 (226-925) out of 1100, indicating the perception of oropharyngeal dysphagia and diminished quality of life. Following endoscopic treatment of Zenker's diverticulum, significant improvement was demonstrated in the postoperative total SWAL-QOL score of 865 (406-1072) out of 1100 (p < 0.001). On the majority of subscales of SWAL-QOL there was significant improvement between pre- and postoperative scores. To the authors' knowledge, this is the first report in the literature on the changes in pre- and postoperative SWAL-QOL scores for patients with Zenker's diverticulum before and after treatment. The results of this study indicate that endoscopic treatment of Zenker's diverticulum leads to significant symptom relief as documented by significant changes in the majority of the SWAL-QOL domains.

Zenker's diverticulum: Rotterdam experience.

PubMed

Visser, L J; Hardillo, J A U; Monserez, D A; Wieringa, M H; Baatenburg de Jong, R J

2016-09-01

Different surgical techniques exist for the treatment of Zenker's diverticulum (ZD), of which minimally invasive techniques have become the standard. We reviewed our experience with management and treatment of ZD and sought to determine what type of treatment is most effective and efficient. We selected patients who underwent treatment for ZD between January 2004 and January 2014 at our tertiary referral center. All procedures were performed by ENT surgeons. The medical records were reviewed for pre- and intraoperative characteristics and follow-up. Of our 94 patients (58 male, 36 female), 75 underwent endoscopic cricopharyngeal myotomy (42 stapler, 33 laser) and 6 received treatment via transcervical approach. 13 interventions were aborted. Mean operating time was 49.0 min for stapler, 68.3 for laser and 124.0 for the transcervical approach. Its respective median post-operative admission durations were 2.0, 3.0 and 3.0 days. After the first treatment, of the 75 endoscopic procedures, 45 patients (23 stapler, 22 laser) had complete symptom resolution. In the transcervical group 4 (67 %) patients were symptom free and one patient died of complications. In the endoscopically treated patients, ten complications occurred, of which 8 G1 and 2 G2 (Clavien Dindo classification). In the transcervical group 2 complications occurred, 1 G3b and 1 G5. Both endoscopic techniques provide efficient management of Zenker's diverticulum with the stapler-assisted modality providing a shorter surgery duration and hospital admission. Although there is no significant difference in terms of complications or recurrence rates for both endoscopic techniques, it seems that stapler patients are at higher risk of having a re-intervention and of having more severe complications.

Functional analysis of CTRP3/cartducin in Meckel's cartilage and developing condylar cartilage in the fetal mouse mandible

PubMed Central

Yokohama-Tamaki, Tamaki; Maeda, Takashi; Tanaka, Tetsuya S; Shibata, Shunichi

2011-01-01

CTRP3/cartducin, a novel C1q family protein, is expressed in proliferating chondrocytes in the growth plate and has an important role in regulating the growth of both chondrogenic precursors and chondrocytes in vitro. We examined the expression of CTRP3/cartducin mRNA in Meckel's cartilage and in condylar cartilage of the fetal mouse mandible. Based on in situ hybridization studies, CTRP3/cartducin mRNA was not expressed in the anlagen of Meckel's cartilage at embryonic day (E)11.5, but it was strongly expressed in Meckel's cartilage at E14.0, and then reduced in the hypertrophic chondrocytes at E16.0. CTRP3/cartducin mRNA was not expressed in the condylar anlagen at E14.0, but was expressed in the upper part of newly formed condylar cartilage at E15.0. At E16.0, CTRP3/cartducin mRNA was expressed from the polymorphic cell zone to the upper part of the hypertrophic cell zone, but was reduced in the lower part of the hypertrophic cell zone. CTRP3/cartducin-antisense oligodeoxynucleotide (AS-ODN) treatment of Meckel's cartilage and condylar anlagen from E14.0 using an organ culture system indicated that, after 4-day culture, CTRP3/cartducin abrogation induced curvature deformation of Meckel's cartilage with loss of the perichondrium and new cartilage formation. Aggrecan, type I collagen, and tenascin-C were simultaneously immunostained in this newly formed cartilage, indicating possible transformation from the perichondrium into cartilage. Further, addition of recombinant mouse CTRP3/cartducin protein to the organ culture medium with AS-ODN tended to reverse the deformation. These results suggest a novel function for CTRP3/cartducin in maintaining the perichondrium. Moreover, AS-ODN induced a deformation of the shape, loss of the perichondrium/fibrous cell zone, and disorder of the distinct architecture of zones in the mandibular condylar cartilage. Additionally, AS-ODN-treated condylar cartilage showed reduced levels of mRNA expression of aggrecan, collagen types I

Small bowel volvulus with jejunal diverticulum: Primary or secondary?

PubMed

Shen, Xiao-Fei; Guan, Wen-Xian; Cao, Ke; Wang, Hao; Du, Jun-Feng

2015-09-28

Small bowel volvulus, which is torsion of the small bowel and its mesentery, is a medical emergency, and is categorized as primary or secondary type. Primary type often occurs without any apparent intrinsic anatomical anomalies, while the secondary type is common clinically and could be caused by numerous factors including postoperative adhesions, intestinal diverticulum, and/or tumors. Here, we report a rare case of a 60-year-old man diagnosed with small bowel volvulus using multidetector computed tomography (MDCT) angiography. Further discovery by laparotomy showed one jejunal diverticulum, longer corresponding mesentery with a narrower insertion, and a lack of mesenteric fat. This case report includes several etiological factors of small bowel volvulus, and we discuss the possible cause of small bowel volvulus in this patient. We also highlight the importance of MDCT angiography in the diagnosis of volvulus and share our experience in treating this disease.

Small bowel volvulus with jejunal diverticulum: Primary or secondary?

PubMed Central

Shen, Xiao-Fei; Guan, Wen-Xian; Cao, Ke; Wang, Hao; Du, Jun-Feng

2015-01-01

Small bowel volvulus, which is torsion of the small bowel and its mesentery, is a medical emergency, and is categorized as primary or secondary type. Primary type often occurs without any apparent intrinsic anatomical anomalies, while the secondary type is common clinically and could be caused by numerous factors including postoperative adhesions, intestinal diverticulum, and/or tumors. Here, we report a rare case of a 60-year-old man diagnosed with small bowel volvulus using multidetector computed tomography (MDCT) angiography. Further discovery by laparotomy showed one jejunal diverticulum, longer corresponding mesentery with a narrower insertion, and a lack of mesenteric fat. This case report includes several etiological factors of small bowel volvulus, and we discuss the possible cause of small bowel volvulus in this patient. We also highlight the importance of MDCT angiography in the diagnosis of volvulus and share our experience in treating this disease. PMID:26420976

The uterine blush. A potential false-positive in Meckel's scan interpretation

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

Fink-Bennett, D.

To determine the presence, prevalence, and clinical importance of /sup 99m/Tc pertechnetate uterine uptake, this retrospective analysis of 71 Meckel's scans was undertaken. Specifically, each study was evaluated for the presence of a focal accumulation of radiotracer cephalad to the bladder. Patients received an intravenous dose of 150 microCi/kg of /sup 99m/Tc pertechnetate. Each study consisted of 15 one minute anterior serial gamma camera images, and a 15, 30, and 60 minute anterior, right lateral and posterior scintiscan. Menstrual histories were obtained from all patients except two. No males (33/33), nor premenstrual (13/13), menopausal (4/4) or posthysterectomy (2/2) patients revealedmore » a uterine blush. Eleven of 15 patients (73%) with regular menses demonstrated a uterine blush. They were in the menstrual or secretory phases of their cycle. Four demonstrated no uterine uptake, had regular periods, but were in the proliferative phase of their cycle. Two with irregular periods, and one with no recorded menstrual history, manifested the blush. Radiotracer should be expected in the uterus during the menstrual and secretory phases of the menstrual cycle. It is a manifestation of a normal physiologic phenomenon, and must be recognized to prevent false-positive Meckel's scan interpretations.« less

Immunolocalization of receptor activator of nuclear factor-κB ligand (RANKL) and osteoprotegerin (OPG) in Meckel's cartilage compared with developing endochondral bones in mice

PubMed Central

Sakakura, Yasunori; Tsuruga, Eichi; Irie, Kazuharu; Hosokawa, Yoichiro; Nakamura, Hiroaki; Yajima, Toshiniko

2005-01-01

We examined the immunolocalization of receptor activator of nuclear factor-κB ligand (RANKL) and osteoprotegerin (OPG) in areas of resorption caused by osteoclasts/chondroclasts on embryonic days 14–16 (E14–16) in Meckel's cartilage, and compared the results with those in endochondral bones in mice. Intense RANKL and OPG immunoreactivity was detected in the chondrocytes in Meckel's cartilage. On E15, when the incisor teeth were closest to the middle portion of Meckel's cartilage, tartrate-resistant acid phosphatase (TRAP)-positive cells appeared on the lateral side of the cartilage. Furthermore, the dental follicle showed moderate immunoreactivity for RANKL and OPG, whereas osteoblasts derived from perichondral cells were immunonegative for RANKL and OPG in that area. On E16, cartilage resorption by TRAP-positive cells had progressed at the differential position, and intensely immunoreactive products of RANKL were overlapped on and found to exist next to TRAP-positive cells in the resorption area. In developing metatarsal tissue, OPG immunoreactivity was intense in periosteal osteoblasts, whereas RANKL was only faintly seen in some of the periosteal cells. In epiphyseal chondrocytes of the developing femur, RANKL immunoreactivity was moderate, and OPG scarcely detected. These results indicate a peculiarity of RANKL and OPG immunolocalization in resorption of Meckel's cartilage. Growth of the incisor teeth may be involved in the time- and position-specific resorption of Meckel's cartilage through local regulation of the RANKL/OPG system in dental follicular cells and periosteal osteoblasts, whereas RANKL and OPG in chondrocytes seem to contribute to resorption through regulation of the chondroclast function. PMID:16191162

Detection of intestinal obstruction by radionuclide scan: case report

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

Chaudhuri, T.K.

1976-11-01

The value of /sup 99m/Technetium-pertechnetate abdomen scan has recently been established in the diagnosis of Meckel's diverticulum, intussusception, and inflamed appendix. The purpose of this paper is to report a case with small intestinal obstruction secondary to fibrous adhesions which resulted from a previous surgery, in whom a /sup 99m/Technetium-pertechnetate abdomen scan showed increased radionuclide concentration in the area of dilated loop of bowel proximal to the site of obstruction.

Patent omphalomesenteric duct of the vermiform appendix in a neonate: congenital appendicoumbilical fistula.

PubMed

Crankson, S J; Ahmed, G S; Palkar, V

1998-12-01

Umbilical anomalies arise from fetal structures such as the omphalomesenteric duct (OMD) or urachus or from failure of closure of the umbilical fascial ring. Persistence of the OMD may lead to several anomalies including umbilical sinus, umbilical cyst, Meckel's diverticulum, or patent OMD (POMD). A POMD is usually associated with the ileum, but rarely may be with the caecum or appendix. We describe a POMD of the vermiform appendix and discuss the possible pathogenesis and management.

Sigmoid Sinus Diverticulum, Dehiscence, and Venous Sinus Stenosis: Potential Causes of Pulsatile Tinnitus in Patients with Idiopathic Intracranial Hypertension?

PubMed

Lansley, J A; Tucker, W; Eriksen, M R; Riordan-Eva, P; Connor, S E J

2017-09-01

Pulsatile tinnitus is experienced by most patients with idiopathic intracranial hypertension. The pathophysiology remains uncertain; however, transverse sinus stenosis and sigmoid sinus diverticulum/dehiscence have been proposed as potential etiologies. We aimed to determine whether the prevalence of transverse sinus stenosis and sigmoid sinus diverticulum/dehiscence was increased in patients with idiopathic intracranial hypertension and pulsatile tinnitus relative to those without pulsatile tinnitus and a control group. CT vascular studies of patients with idiopathic intracranial hypertension with pulsatile tinnitus ( n = 42), without pulsatile tinnitus ( n = 37), and controls ( n = 75) were independently reviewed for the presence of severe transverse sinus stenosis and sigmoid sinus diverticulum/dehiscence according to published criteria. The prevalence of transverse sinus stenosis and sigmoid sinus diverticulum/dehiscence in patients with idiopathic intracranial hypertension with pulsatile tinnitus was compared with that in the nonpulsatile tinnitus idiopathic intracranial hypertension group and the control group. Further comparisons included differing degrees of transverse sinus stenosis (50% and 75%), laterality of transverse sinus stenosis/sigmoid sinus diverticulum/dehiscence, and ipsilateral transverse sinus stenosis combined with sigmoid sinus diverticulum/dehiscence. Severe bilateral transverse sinus stenoses were more frequent in patients with idiopathic intracranial hypertension than in controls ( P < .001), but there was no significant association between transverse sinus stenosis and pulsatile tinnitus within the idiopathic intracranial hypertension group. Sigmoid sinus dehiscence (right- or left-sided) was also more common in patients with idiopathic intracranial hypertension compared with controls ( P = .01), but there was no significant association with pulsatile tinnitus within the idiopathic intracranial hypertension group. While our data

Perforated posterior cecal diverticulum: challenges in establishing an accurate preoperative diagnosis of a rare emergency.

PubMed

Salemis, Nikolaos S; Grapatsas, Konstantinos; Matzoukas, Ioannis; Lagoudianakis, Emmanuel

2015-03-01

Solitary cecal diverticulitis is a rare cause of abdominal pain in Western countries. The preoperative diagnosis is very difficult to establish and most patients are operated on with a presumptive diagnosis of acute appendicitis based on clinical grounds. We describe a very rare case of perforated posterior cecal diverticulum and discuss the challenges in establishing a correct preoperative diagnosis. We conclude that although very rare, the possibility of perforated posteriorcecal diverticulum should always be considered in the differential diagnosis of patients presenting with atypical clinical manifestations of acute appendicitis. A perforation of a posterior cecal diverticulum maybe associated with a mild clinical course without signs of peritonitis. Athorough preoperative evaluation including a computed tomography scan is essential in order to establish a correct preoperative diagnosis which is of utmost importance for treatment planning in the emergency setting. Simple diverticulectomy is an effective surgical treatment in the absence of extensive inflammatory changes and when a colonic tumor can be ruled out.

Interest of submucosal dissection knife for endoscopic treatment of Zenker's diverticulum.

PubMed

Laquière, A; Grandval, P; Arpurt, J P; Boulant, J; Belon, S; Aboukheir, S; Laugier, R; Penaranda, G; Curel, L; Boustière, C

2015-09-01

Dual-Knife(®) (Olympus) and Hydride-Knife(®) are new needle knives frequently used for submucosal dissection because of their safety and precision. In this study we aimed to evaluate the efficacy and safety of such devices in the diverticulopexy by flexible endoscopy. From February 2009 to March 2013, 42 patients (25 men), mean age 74.5, with symptomatic Zenker's diverticulum, were included in a non-randomized prospective multicenter study. The symptoms described by all patients include dysphagia, regurgitation and/or swallowing disorders. The diverticulopexy was performed with the Dual-Knife(®) or Hydrid-Knife(®), after septum exposure with the diverticuloscope, and terminated with distal tip clips positioning. All complications were noted. Patients' symptoms were regularly assessed during follow-up visits or telephone interviews. The first endoscopy treatment was successful for all patients. Thirty-seven patients (88%) had symptoms improvement after the first treatment. The recurrence rate was 14% (6 patients); a second endoscopic treatment was required 12 months on average after the first treatment, with 100% efficiency. Mid-term (16 months) efficiency was 91.67% after 1 to 3 endoscopic treatments. A total of 55 procedures were performed without perforation or significant bleeding and 3 patients underwent surgery. In multivariate analysis, the diverticulum size and the type of dissection knife were not risks factors for recurrence. Endoscopic diverticuloscope-assisted diverticulotomy with submucosal dissection knives is a safe and effective alternative treatment for patients with a symptomatic Zenker's diverticulum measuring between 2 and 10 cm.

Traction esophageal diverticulum: a rare cause of gastro-intestinal bleeding.

PubMed

Ballehaninna, Umashankar K; Shaw, Jason P; Brichkov, Igor

2012-12-01

Esophageal diverticula are uncommon lesions that are usually classified according to their location (cervical, thoracic, or epiphrenic), or underlying pathogenesis (pulsion or traction), and their morphology (true or false).The majority of esophageal diverticula are acquired lesions that occur predominantly in elderly adults. Pulsion, or false, diverticula are the most commonly encountered type of esophageal diverticula noticed at the level of cricopharyngeus muscle, occur as a localized outpouchings that lacks a muscular coat, and as such their wall is formed entirely by mucosa and submucosa. True, or traction, esophageal diverticulum (TED) is seen in the middle one third of the thoracic esophagus in a peribronchial location, occurs secondary to mediastinal inflammatory lesions such as tuberculosis or histoplasmosis. The resultant desmoplastic reaction in the paraesophageal tissue causes full thickness pinching on the esophageal wall, producing a conical, broad-mouthed true diverticulum. They often project to the right side because subcarinal lymph nodes in this area are closely associated with the right anterior wall of the esophagus. TED usually presents with symptoms such as dysphagia, postural regurgitation, belching, retrosternal pain, heartburn, and epigastric pain. As in patients with pharyngoesophageal (Zenker's) diverticula, pulmonary symptoms are often present but underestimated in TED patients. These symptoms range from mild nocturnal cough to life-threatening massive aspiration. In this particular report we describe a rare case of TED presenting as a symptomatic upper gastrointestinal bleeding. Diagnostic evaluation of TED includes chest X-ray, barium esophagogram and manometry. A significant proportion of lower esophageal diverticula are associated with motility disorders. Management of TED include treating the underlying cause sometimes a surgical resection of diverticulum along with esophageal myotomy is necessitated in symptomatic patients.

Use of monoclonal antibodies developed against chicken coccidia (Eimeria) to study invasion and development of Eimeria reichenowi in Florida sandhill cranes (Grus canadensis).

PubMed

Augustine, P; Olsen, G; Danforth, H; Gee, G; Novilla, M

2001-03-01

Eimeria gruis and Eimeria reichenowi are common coccidial parasites of a number of species of cranes. Until recently, little was known about either the site for invasion or the dynamics of early development of the crane coccidia because of the difficulty of identifying sporozoites and early developmental stages of these parasites by conventional staining methods. In the present study, monoclonal antibodies (MAbs) elicited against Eimeria spp. of chickens and turkeys were found to cross-react with sporozoites and developmental stages of E. reichenowi in the tissues of Florida sandhill cranes (Grus canadensis). With these Mabs, E. reichenowi sporozoites were found in specimens taken at 6 hr postinoculation (PI) from just proximal to Meckel's diverticulum in the jejunum to the ileocecal juncture. Fewer were found in the ceca and rectum and none in the duodenal loop. At 24 hr PI, there were markedly fewer sporozoites and their location had shifted to the duodenum. No stages were seen in intestinal cells at 5 days PI (DPI), but trophozoites had developed in the liver and spleen. At 10 DPI, sexual stages were detected in the intestine from the duodenal loop through Meckel's diverticulum but not in other organs. By 14 DPI, numerous developmental stages were detected in the intestine (ceca and jejunum), liver, and lungs but not in the heart, kidney, or brain. The number, location, and maturity of the stages in the ceca differed markedly from those in the jejunum.

Use of monoclonal antibodies developed against chicken coccidia (Eimeria) to study invasion and development of Eimeria reichenowi in Florida sandhill cranes (Grus canadensis)

USGS Publications Warehouse

Augustine, P.C.; Olsen, Glenn H.; Danforth, H.D.; Gee, G.F.; Novilla, M.

2001-01-01

Eimeria gruis and Eimeria reichenowi are common coccidial parasites of a number of species of cranes. Until recently, little was known about either the site for invasion or the dynamics of early development of the crane coccidia because of the difficulty of identifying sporozoites and early developmental stages of these parasites by conventional staining methods. In the present study, monoclonal antibodies (MAbs) elicited against Eimeria spp. of chickens and turkeys were found to cross-react with sporozoites and developmental stages of E. reichenowi in the tissues of Florida sandhill cranes (Grus canadensis). With these Mabs, E. reichenowi sporozoites were found in specimens taken at 6 hr postinoculation (PI) from just proximal to Meckel's diverticulum in the jejunum to the ileocecal juncture. Fewer were found in the ceca and rectum and none in the duodenal loop. At 24 hr PI, there were markedly fewer sporozoites and their location had shifted to the duodenum. No stages were seen in intestinal cells at 5 days PI (DPI), but trophozoites had developed in the liver and spleen. At 10 DPI, sexual stages were detected in the intestine from the duodenal loop through Meckel's diverticulum but not in other organs. By 14 DPI, numerous developmental stages were detected in the intestine (ceca and jejunum), liver, and lungs but not in the heart, kidney, or brain. The number, location, and maturity of the stages in the ceca differed markedly from those in the jejunum.

[Persistence [corrected] of onphalomesenteric duct as intestinal obstruction cause in a adult. Report of a case in the Hipolito Unanue Nacional Hospital].

PubMed

Gutiérrez Ccencho, C; Luna Cydejko, Jc; Gutierrez De Aranguren, Cf; Revoredo, Fernando; Soto Tarazona, A; Olazábal Ramírez, V

2008-01-01

The persistence of the onphalomesenteric duct has been reported in several pediatric publications either through the appearance of Meckel diverticulum that are commonest, or by the appearance of segments with partial or total permeability of itself. Sporadic cases have appeared where this anomaly has originated episodes of intestinal obstruction in infants and children specially under the form of a fibrous band. However, adult presentations extremely infrequent. The case presented in this report shows compatible findings with a onphalomesenteric conduit with partial permeability, that I originate an intestinal picture of obstruction in a young adult.

Successful Radiofrequency Catheter Ablation for Wolff-Parkinson-White Syndrome Within the Neck of a Coronary Sinus Diverticulum

PubMed Central

Jang, Sung-Won; Kim, Dong-Bin; Kwon, Bum-Jun; Cho, Eun-Joo; Shin, Woo-Seung; Kim, Ji-Hoon; Jin, Seung-Won; Oh, Yong-Seog; Lee, Man-Young; Kim, Jae-Hyung

2009-01-01

Posteroseptal accessory pathways are often associated with coronary sinus diverticula. These diverticula contain myocardial coats which serve as a bypass tract. We report a 54-year-old woman who underwent radiofrequency (RF) catheter ablation for Wolff-Parkinson-White (WPW) syndrome. The surface electrocardiography (ECG) demonstrated pre-excitation, indicating a posteroseptal accessory pathway. A catheter ablation via a transaortic approach failed to ablate the accessory pathway. Coronary sinus venography revealed the presence of a diverticulum near the ostium. An electrogram in the neck of the diverticulum showed the coronary sinus myocardial extension potential, which was successfully ablated by delivery of RF energy. PMID:19949625

Laparoscopic treatment of a phytobezoar in the duodenal diverticulum - Report of a case.

PubMed

Pergel, Ahmet; Yucel, Ahmet Fikret; Aydin, Ibrahim; Sahin, Dursun Ali

2012-01-01

Primer small intestine bezoar is seen rarely. It frequently arises from underlying small intestine pathologies (diverticle, tumor, stricture etc.). We report a very rare case of disopyrobezoar in the duodenal diverticulum, a kind of phytobezoar caused by persimmons, which was treated laparoscopically. The 47-year-old patient applied to polyclinic with complaints of epigastric tenderness, occasional distension, and acid regurgitation. In endoscopical examination, impacted bezoar was determined in the diverticulum in the duodenum. Because it is too hard, it was unable to remove endoscopically. On the abdominal tomography, a smooth-bounded non-homogeneous mass including gas and soft tissue areas in the 2nd portion of the duodenum was detected. A barium meal confirmed the presence of a 5cm diameter diverticulum on the lateral wall of the second portion of the duodenum. It also showed an intraluminalfilling defect as well as the mottled appearance of the bezoar. Learned from history of the patient, that the patient consumed over persimmon in childhood. Generally, duodenal diverticles are asymptomatic. Surgical treatment is rarely necessary because of complications such as bleeding, perforation, abdominal pain, bezoar formation. As well as using methods such as gastric lavage, enzymatic dissolution, endoscopical fragmentation in the treatment of phytobezoar, their chances of success are low because its structure is rigid. Usually, surgical intervention is required. For the treatments of bezoar cases located in the small intestine, laparoscopic surgical method is a safe and feasible method in selected cases. Copyright © 2012 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved.

Dual pathology-An unreported case.

PubMed

Yap, Darren; Rasheed, Ashraf; Rashid, Majid

2015-01-01

Symptomatic biliary disease in children and young adults requiring surgical intervention are uncommon. However even rarer is the occurrence of a spontaneous gallbladder necrosis in a child. We report a case of spontaneous necrosis in a child with no apparent causative factors. Fit and well 16 year-old boy presented with acute generalized lower abdominal pain. Examination revealed mild epigastric pain with rebound tenderness and guarding of the right iliac fossa. Diagnostic laparoscopy showed a necrotic gallbladder and incidental finding of a Meckel's diverticulum. He had a cholecystectomy and Meckel's diverticulum resection. Patient recovered uneventfully and was discharged home. He was reviewed 2 months later and recovered well with no evidence of any post-operative complication. He was discharged without any further follow up. Gall bladder necrosis is a rare cause of an acute abdomen. We present the first reported case of a spontaneous gallbladder necrosis with no apparent cause. Literature review showed various causes of gall bladder necrosis including trauma, acalculous cholecystitis, gallbladder torsion, gangrenous cholecystitis and etc. We report a case of spontaneous gallbladder necrosis in a young healthy male with no family history of thrombotic disorders or any history of sepsis, intervention, trauma and no obvious underlying anatomical or histological abnormalities. This is an exceedingly rare pathology and one would be forgiven for not including it on the list of a differential diagnosis in such circumstance. However it is important to send tissue sample to exclude any underlying histological aetiological factors. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

[Right-side aortic arch with aberrant left subclavian artery and Kommerell's diverticulum. A cause of vascular ring].

PubMed

Tamayo-Espinosa, Tania; Erdmenger-Orellana, Julio; Becerra-Becerra, Rosario; Balderrabano-Saucedo, Norma; Segura-Standford, Begoña

The right-side aortic arch may be associated with aberrant left subclavian artery, in some cases this artery originates from an aneurismal dilation of the aorta called Kommerell's diverticulum. A report is presented on 2 cases of vascular ring formed by a right-side aortic arch, anomalous left subclavian artery, Kommerell's diverticulum and left patent ductus arteriosus. A review the literature was also performed as regards the embryological development and the imaging methods used to help in the diagnosis of this rare vascular anomaly. Copyright © 2017 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.

Gastric heterotopia with extensive involvement of the small intestine associated with congenital short bowel syndrome and intestinal malrotation.

PubMed

Shehata, Bahig; Chang, Tiffany; Greene, Courtney; Steelman, Charlotte; McHugh, Mary; Zarroug, Abdalla; Ricketts, Richard

2011-01-01

We present a case of extensive gastric heterotopia involving the small intestine associated with congenital short bowel syndrome and malrotation. The infant showed a normal mesenteric artery, without signs of "apple peel" deformity. Gastric heterotopia extended from the duodenum to the mid-ileum involving the short bowel. Gastric mucosa heterotopia may involve any segment of the gastrointestinal tract. It can be associated with pancreatic heterotopia and Meckel diverticulum. However, our case showed involvement of two-thirds of the small intestine without pancreatic heterotopia. To our knowledge, this is the first report of gastric heterotopia with congenital short gut syndrome and malrotation.

Gastrointestinal obstruction in penguin chicks.

PubMed

Perpiñán, David; Curro, Thomas G

2009-12-01

A 7-day-old gentoo penguin (Pygoscelis papua) was found dead and postmortem examination revealed impaction of the ventriculus with feathers. A review of mortality in gentoo penguin chicks from 1997 to 2007 at that institution revealed another case of feather impaction of the ventriculus in a 4-week-old chick, a sibling of the previous chick. A third case of gastrointestinal impaction occurred in a 24-day-old king penguin (Aptenodytes patagonicus) with omphallitis and enteritis. In this chick, a fibrin mat produced a complete obstruction of the intestine at the level of Meckel's diverticulum.

Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible.

PubMed

Biosse Duplan, Martin; Komla-Ebri, Davide; Heuzé, Yann; Estibals, Valentin; Gaudas, Emilie; Kaci, Nabil; Benoist-Lasselin, Catherine; Zerah, Michel; Kramer, Ina; Kneissel, Michaela; Porta, Diana Grauss; Di Rocco, Federico; Legeai-Mallet, Laurence

2016-07-15

Activating FGFR3 mutations in human result in achondroplasia (ACH), the most frequent form of dwarfism, where cartilages are severely disturbed causing long bones, cranial base and vertebrae defects. Because mandibular development and growth rely on cartilages that guide or directly participate to the ossification process, we investigated the impact of FGFR3 mutations on mandibular shape, size and position. By using CT scan imaging of ACH children and by analyzing Fgfr3 Y367C/+ mice, a model of ACH, we show that FGFR3 gain-of-function mutations lead to structural anomalies of primary (Meckel's) and secondary (condylar) cartilages of the mandible, resulting in mandibular hypoplasia and dysmorphogenesis. These defects are likely related to a defective chondrocyte proliferation and differentiation and pan-FGFR tyrosine kinase inhibitor NVP-BGJ398 corrects Meckel's and condylar cartilages defects ex vivo. Moreover, we show that low dose of NVP-BGJ398 improves in vivo condyle growth and corrects dysmorphologies in Fgfr3 Y367C/+ mice, suggesting that postnatal treatment with NVP-BGJ398 mice might offer a new therapeutic strategy to improve mandible anomalies in ACH and others FGFR3-related disorders. © The Author 2016. Published by Oxford University Press.

Laparoscopic treatment of a phytobezoar in the duodenal diverticulum – Report of a case

PubMed Central

Pergel, Ahmet; Yucel, Ahmet Fikret; Aydin, Ibrahim; Sahin, Dursun Ali

2012-01-01

INTRODUCTION Primer small intestine bezoar is seen rarely. It frequently arises from underlying small intestine pathologies (diverticle, tumor, stricture etc.). We report a very rare case of disopyrobezoar in the duodenal diverticulum, a kind of phytobezoar caused by persimmons, which was treated laparoscopically. PRESENTATION OF CASE The 47-year-old patient applied to polyclinic with complaints of epigastric tenderness, occasional distension, and acid regurgitation. In endoscopical examination, impacted bezoar was determined in the diverticulum in the duodenum. Because it is too hard, it was unable to remove endoscopically. On the abdominal tomography, a smooth-bounded non-homogeneous mass including gas and soft tissue areas in the 2nd portion of the duodenum was detected. A barium meal confirmed the presence of a 5 cm diameter diverticulum on the lateral wall of the second portion of the duodenum. It also showed an intraluminalfilling defect as well as the mottled appearance of the bezoar. Learned from history of the patient, that the patient consumed over persimmon in childhood. DISCUSSION Generally, duodenal diverticles are asymptomatic. Surgical treatment is rarely necessary because of complications such as bleeding, perforation, abdominal pain, bezoar formation. As well as using methods such as gastric lavage, enzymatic dissolution, endoscopical fragmentation in the treatment of phytobezoar, their chances of success are low because its structure is rigid. Usually, surgical intervention is required. CONCLUSION For the treatments of bezoar cases located in the small intestine, laparoscopic surgical method is a safe and feasible method in selected cases. PMID:22659120

[A case of enterolith ileus secondary to acute pancreatitis associated with a juxtapapillary duodenal diverticulum].

PubMed

Morii, Shinji; Doi, Yoko; Makita, Tomoo; Takeda, Shinichiro; Miura, Seiki; Kaneko, Takaaki; Saito, Shuichi; Okabe, Shinichiro

2015-05-01

A 63-year-old woman with abdominal pain was referred to our hospital. Her pancreatic enzymes were elevated, and an abdominal computed tomography (CT) scan showed an enlarged pancreas, consistent with pancreatitis, and gas collection containing an impacted stone adjacent to Vater's papilla. This finding raised the suspicion of a duodenal diverticulum. A subsequent ERCP showed a juxtapapillary duodenal diverticulum (JPDD) filled with calculi and pus. The pancreatitis improved with 2 weeks of conservative treatment. Subsequently, the patient underwent resection of the uterus and bilateral adnexa to remove a large ovarian cyst that was also identified on the admission CT scan. On the third postoperative day, she developed abdominal pain and vomiting. CT revealed small bowel obstruction caused by an enterolith expelled from JPDD. Enterotomy was performed to remove the stone. To our knowledge, only three similar cases have been previously reported in Japan.

Sudden perinatal death due to rupture of congenital cardiac diverticulum. Pathological findings and medico-legal investigations in malpractice charge.

PubMed

Marchesi, Matteo; Boracchi, Michele; Gentile, Guendalina; Maghin, Francesca; Zoja, Riccardo

2017-09-01

Congenital diverticula of the left ventricle, very rare malformations, are determined by an abnormal embryonic development of the ventricular wall and can be isolated or associated to other cardiac anomalies. In most of the cases, these pathologies are not symptomatic and in some patients can be associated to ventricular arrhythmia, cardiac rupture with tamponade and sudden death. Authors are presenting the case of a sudden death in an 8-weeks-old newborn due to rupture of a cardiac congenital diverticulum of the left ventricle, discovered only at the moment of the autopsic examination. The parents of the victim pressed charges against the medical staff that was appointed to the cares, blaming them with malpractice. The missed diagnosis of a cardiac congenital diverticulum of the left ventricle, a rare pathology, reflects the trickiness of the medical management that can lead to medico-legal controversies and, even though such rare conditions must be always taken into consideration when investigating possible dysfunction causing the death, diagnostic difficulties, in the case in exam, justify the missed diagnosis intra-vitam of cardiac ventricular diverticulum. Copyright © 2017 Elsevier B.V. All rights reserved.

[Giant prostatic calculus with neurogenic bladder disease and prostate diverticulum: a case report and review of the literature].

PubMed

Li, Xiao-Shi; Quan, Chang-Yi; Li, Gang; Cai, Qi-Liang; Hu, Bin; Wang, Jiu-Wei; Niu, Yuan-Jie

2013-02-01

To study the etiology, clinical manifestation, diagnosis and treatment of giant prostatic calculus with neurogenic bladder disease and prostate diverticulum. We retrospectively analyzed the clinical data of a case of giant prostatic calculus with neurogenic bladder disease and prostate diverticulum and reviewed the relevant literature. The patient was a 37-year-old man, with urinary incontinence for 22 years and intermittent dysuria with frequent micturition for 9 years, aggravated in the past 3 months. He had received surgery for spina bifida and giant vesico-prostatic calculus. The results of preoperative routine urinary examination were as follows: WBC 17 -20/HPF, RBC 12 - 15/HPF. KUB, IVU and pelvic CT revealed spina bifida occulta, neurogenic bladder and giant prostatic calculus. The patient underwent TURP and transurethral lithotripsy with holmium-YAG laser. The prostatic calculus was carbonate apatite in composition. Urinary dynamic images at 2 weeks after surgery exhibited significant improvement in the highest urine flow rate and residual urine volume. Seventeen months of postoperative follow-up showed dramatically improved urinary incontinence and thicker urine stream. Prostate diverticulum with prostatic giant calculus is very rare, and neurogenic bladder may play a role in its etiology. Cystoscopy is an accurate screening method for its diagnosis. For the young patients and those who wish to retain sexual function, TURP combined with holmium laser lithotripsy can be employed, and intraoperative rectal examination should be taken to ensure complete removal of calculi.

Robotic treatment of a type 2 calyceal diverticulum in a child: is suture closure and marsupialisation enough for a good outcome?

PubMed

Sripathi, V; Mitra, Aparajita; Padankatti, Rajiv L; Ganesan, T

2017-10-27

Calyceal diverticula in children are rare and 20% eventually become symptomatic. Following the use of laparoscopic or endoscopic treatments, 85% of children report symptomatic relief. However, complete radiological resolution is seen only in three-fourths of the laparoscopic group and a quarter of those treated via endoscopy. Diathermy ablation of the lining and/or prolonged double J stenting has not altered this outcome. The robotic approach is superior to the other two techniques as the leak can be clearly identified and securely suture ligated. We believe that this is the third published report of the successful closure of a calyceal diverticulum in a child using robotic assistance. A ten-year-old boy presented with severe pain in the right flank and a palpable renal swelling. Retrograde injection of contrast outlined a large exophytic calyceal diverticulum (type 2) in the lower pole. Robotic assistance allowed precise suture closure of the neck as well as partial marsupialisation of the diverticulum. The child was discharged within 48 h and remains symptom free 18 months later. Calyceal diverticula are rare but technically challenging entities. We have shown a good outcome with only suture closure of the leak. Diathermy ablation of the lining and prolonged internal stenting were avoided.

Hybrid repair of right aortic arch aneurysm with a Kommerell's diverticulum.

PubMed

Tanaka, Koyu; Yoshitaka, Hidenori; Chikazawa, Genta; Sakaguchi, Taichi; Totsugawa, Toshinori; Tamura, Kentaro

2014-07-01

We describe the case of a 74-year-old man who underwent a hybrid open and endovascular approach for repair of dissecting thoracic aortic aneurysm of a right aortic arch with aberrant left subclavian artery arising from a Kommerell's diverticulum. Total debranching using a tailored quadrifurcated graft and thoracic endovascular aneurysm repair for the transverse aortic lesion were performed. The procedures were successfully accomplished with complete exclusion of the aneurysm. This hybrid procedure for complex aortic arch disease may reduce perioperative complications compared to challenging conventional open approaches. © The Author(s) 2013 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Fiberoptic endoscopic-assisted diverticulotomy: a novel technique for the management of Zenker's diverticulum.

PubMed

Altman, Jason I; Genden, Eric M; Moche, Jason

2005-05-01

Endoscopic diverticulotomy is rapidly becoming the procedure of choice for treatment of Zenker's diverticulum. The endoscopic approach has resulted in significant decreases in patient morbidity, time to resumption of oral intake, and overall cost as compared with open treatment. However, a small but significant patient population is unable to accommodate the rigid laryngoscope and therefore requires open treatment. We present a novel technique, flexible fiberoptic endoscopic-assisted diverticulotomy, for the management of patients who are unable to undergo rigid endoscopy.

Cannulation in patients with large periampullary diverticulum using SpyBite miniforceps.

PubMed

Balkrishanan, Mahadevan; Jain, Mayank; Snk, Chenduran; Cg, Sridhar; Ramakrishnan, Ravi; Venkataraman, Jayanthi

2018-03-01

Cannulation is difficult in patients with periampullary diverticulum (PAD). The described success rate varies from 61% to 95.4%. Four cases with PAD in which, despite repeated attempts, we were unable to locate the papilla and cannulate. To overcome this difficulty, we used SpyBite forceps (Boston Scientific) to pull out the papillary orifice and then perform the cannulation using a sphincterotome introduced through the same working channel. This method reduced the time required for cannulation. In all four of our cases, we had 100% success in cannulation. Use of SpyBite miniforceps in difficult cannulations in patients with PAD is useful and has an excellent success rate.

Congenital anterior urethral valve with or without diverticulum: a single-centre experience.

PubMed

Prakash, Jai; Dalela, Divakar; Goel, Apul; Singh, Vishwajeet; Kumar, Manoj; Garg, Manish; Mandal, Swarnendu; Sankhwar, Satya N; Paul, Sagorika; Singh, Bhupender P

2013-12-01

Congenital anterior urethral valves (AUV) are rare and can occur as an isolated entity or in association with proximal diverticula. Diagnosis may be overlooked and ideal treatment is not standardized when both the valve and diverticulum are simultaneously present. We present our experience of congenital AUV. From January 2007 to June 2012 a retrospective review of the medical records of 7 cases of AUV was performed. Three patients were diagnosed as isolated AUV while four presented with associated diverticula. The age of presentation ranged from 10 months to 6 years. Weak voiding stream and dribbling were the most common symptoms. Renal function was found to be deranged in two patients (28%). Hydro-ureteronephrosis was present in three boys (42%) and reflux was present in one patient. Post-void residual volume was >20 ml (mean 55 ml) in all children. Transurethral holmium laser fulguration was carried out on isolated AUV or AUV with small diverticula. Open resection and reconstruction or plication was performed in patients with AUV and proximal large (>3 cm) diverticula. Surgical outcome was successful in all patients except for occurrence of urethrocutaneous fistula in one patient. In isolated AUV or valve with associated small diverticulum, transurethral holmium:YAG laser ablation is the treatment of choice. Primary excision and repair or plication are preferred if a large diverticula has formed. Eventual outcomes of AUV are good if irreversible changes have not been established. Copyright © 2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Patent vitellointestinal duct

PubMed Central

Agrawal, Sanwar; Memon, Ameen

2010-01-01

During the 3rd week of intrauterine life there is a communication between the intraembryonic gut and the yolk sac. As the development proceeds this communication narrows into a tube known as the vitellointestinal duct (VID). With the establishment of placental nutrition this duct usually becomes obliterated by the end of the 7th week of intrauterine life. In about 2% of humans this duct persists and gives rise to a group of anomalies of which Meckel's diverticulum is the commonest and complete patency of the duct is the rarest.1 We report a case of a 4-month-old infant who presented with umbilical polyp, discharge from the umbilicus, significant dehydration and failure to thrive because of complete patency of the VID PMID:22778111

The left-right asymmetry of liver lobation is generated by Pitx2c-mediated asymmetries in the hepatic diverticulum.

PubMed

Womble, Mandy; Amin, Nirav M; Nascone-Yoder, Nanette

2018-07-15

Internal organs exhibit left-right asymmetric sizes, shapes and anatomical positions, but how these different lateralities develop is poorly understood. Here we use the experimentally tractable Xenopus model to uncover the morphogenetic events that drive the left-right asymmetrical lobation of the liver. On the right side of the early hepatic diverticulum, endoderm cells become columnar and apically constricted, forming an expanded epithelial surface and, ultimately, an enlarged right liver lobe. In contrast, the cells on the left side become rounder, and rearrange into a compact, stratified architecture that produces a smaller left lobe. Side-specific gain- and loss-of-function studies reveal that asymmetric expression of the left-right determinant Pitx2c elicits distinct epithelial morphogenesis events in the left side of the diverticulum. Surprisingly, the cellular events induced by Pitx2c during liver development are opposite those induced in other digestive organs, suggesting divergent cellular mechanisms underlie the formation of different lateralities. Copyright © 2018 Elsevier Inc. All rights reserved.

[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

Rectal bleeding in a 4-month-old boy

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

Dutro, J.A.; Santanello, S.A.; Unger, F.

1986-10-24

A case of bleeding Meckel's diverticulum is described in an infant. A 4-month-old boy was seen initially with a 24-hour history of painless hematochezia. His parents had noted two episodes of maroon-colored stool that did not appear to be associated with any abdominal distress. His medical history was unremarkable, with normal growth and development. Physical examination revealed a well-nourished, well-hydrated infant in no apparent distress. Vital signs were normal. Rectal examination revealed no masses, but bright-red blood was noted on the examining finger. Findings from the remainder of the examination were normal. An upright roentgenogram of the abdomen was obtainedmore » and demonstrated no abnormalities. The abdominal technetium scan was abnormal. An exploratory laparotomy was performed later on the day of admission.« less

[Chondroma adjacent to Meckel's cave mimicking a fifth cranial nerve neurinoma. A case report].

PubMed

Narro-Donate, Jose María; Huete-Allut, Antonio; Velasco-Albendea, Francisco J; Escribano-Mesa, Jose A; Mendez-Román, Paddy; Masegosa-González, Jose

2016-01-01

Cranial chondromas are tumours arising from chondrocyte embryonic remnants cells that usually appear in the skull base synchondrosis. In contrast to the rest of the organism, where chondroid tumours are the most common primary bone tumour just behind the haematopoietic lineage ones, they are a rarity at cranial level, with an incidence of less than 1% of intracranial tumours. The case is reported on a 42 year-old male referred to our clinic due to the finding of an extra-axial lesion located close to the Meckel's cave region, with extension to the posterior fossa and brainstem compression after progressive paraparesis of 6 months onset. With the diagnosis of trigeminal schwannoma, a subtotal tumour resection was performed using a combined supra-infratentorial pre-sigmoidal approach. The postoperative histopathology report confirmed the diagnosis of cranial chondroma. Copyright © 2016 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

Zenker’s diverticulum: flexible versus rigid repair

PubMed Central

Beard, Kristen

2017-01-01

Zenker’s diverticula (ZDs) are a relatively common cause of cervical dysphagia. Diagnosis is best by a good upper GI exam though upper endoscopy should be performed as well. Treatment is either by open, transcervical approaches or trans-oral. Over the past 20 years, transoral approach has mostly replace transcervical approaches due to less pain, no scarring and a rapid recovery. Transoral approaches are either using rigid access or flexible endoscopy. Today, the most common approach is transoral stapling using a 12 mm laparoscopic linear cutting stapler. This has the drawbacks of requiring extreme neck extension, the massive size of the stapler making visualization mostly impossible and the current staple design that does not cut/staple all the way to the end of the blades—resulting in a residual pouch. Flexible endoscopy allows a more tailored approach under direct vision, the myotomy can even be extended beyond the diverticulum and onto the esophageal wall to minimize the risk of incomplete myotomy. Experienced endoscopists report high technical success and low complication. Success rates are similar but maybe slightly higher than with ridged transoral approaches or open surgery. Today, flexible endoscopic Zenkers is our preferred initial approach—with open or ridged being reserved for special indications. PMID:28446979

Giant Meckel’s diverticulum: An exceptional cause of intestinal obstruction

PubMed Central

Akbulut, Sami; Yagmur, Yusuf

2014-01-01

Meckel’s diverticulum (MD) results from incomplete involution of the proximal portion of the vitelline (also known as the omphalomesenteric) duct during weeks 5-7 of foetal development. Although MD is the most commonly diagnosed congenital gastrointestinal anomaly, it is estimated to affect only 2% of the population worldwide. Most cases are asymptomatic, and diagnosis is often made following investigation of unexplained gastrointestinal bleeding, perforation, inflammation or obstruction that prompt clinic presentation. While MD range in size from 1-10 cm, cases of giant MD (≥ 5 cm) are relatively rare and associated with more severe forms of the complications, especially for obstruction. Herein, we report a case of giant MD with secondary small bowel obstruction in an adult male that was successfully managed by surgical resection and anastomosis created with endoscopic stapler device (80 mm, endo-GIA stapler). Patient was discharged on post-operative day 6 without any complications. Histopathologic examination indicated Meckel’s diverticulitis without gastric or pancreatic metaplasia. PMID:24672650

Right Ventricular Outflow Tract Tachycardia with Structural Abnormalities of the Right Ventricle and Left Ventricular Diverticulum.

PubMed

Martini, Bortolo; Trevisi, Nicola; Martini, Nicolò; Zhang, Li

2015-01-01

A 43-year-old woman presented to the emergency room with a sustained ventricular tachycardia (VT). ECG showed a QRS in left bundle branch block morphology with inferior axis. Echocardiography, ventricular angiography, and cardiac magnetic resonance imaging (CMRI) revealed a normal right ventricle and a left ventricular diverticulum. Electrophysiology studies with epicardial voltage mapping identified a large fibrotic area in the inferolateral layer of the right ventricular wall and a small area of fibrotic tissue at the anterior right ventricular outflow tract. VT ablation was successfully performed with combined epicardial and endocardial approaches.

Right Ventricular Outflow Tract Tachycardia with Structural Abnormalities of the Right Ventricle and Left Ventricular Diverticulum

PubMed Central

Martini, Bortolo; Trevisi, Nicola; Martini, Nicolò; Zhang, Li

2015-01-01

A 43-year-old woman presented to the emergency room with a sustained ventricular tachycardia (VT). ECG showed a QRS in left bundle branch block morphology with inferior axis. Echocardiography, ventricular angiography, and cardiac magnetic resonance imaging (CMRI) revealed a normal right ventricle and a left ventricular diverticulum. Electrophysiology studies with epicardial voltage mapping identified a large fibrotic area in the inferolateral layer of the right ventricular wall and a small area of fibrotic tissue at the anterior right ventricular outflow tract. VT ablation was successfully performed with combined epicardial and endocardial approaches. PMID:26509086

A Dieulafoy's lesion in a duodenal diverticulum. An infrequent cause of UGIB.

PubMed

de Benito Sanz, Marina; Cimavilla Román, Marta; Torres Yuste, Raúl

2018-04-01

We present the case of an 82-year-old man with a history of heart failure, mitral regurgitation, type 2 DM, hypertension, dilated cardiomyopathy and a paroxysmal atrial flutter. The patient was under treatment with Sintrom. The patient presented to the emergency department due to melenic depositions of a one day evolution and dietary vomiting. There was no rectal bleeding and the patient was admitted three months previously due to self-limited melena with a normal gastroscopy. Anemia of 8 g and an overdose of Sintrom was diagnosed. A gastroscopy was performed and a large duodenal diverticulum with a fresh clot was found that was washed. A Dieulafoy lesion was subsequently found underneath with jet bleeding, which was sclerotic with adrenaline and a hemoclip. There was a favorable evolution after correcting the coagulopathy.

New flexible endoscopic controlled stapler technique for the treatment of Zenker's diverticulum: A case series.

PubMed

Wilmsen, Johanna; Baumbach, Robert; Stüker, Dietmar; Weingart, Vincens; Neser, Frank; Gölder, Stefan Karl; Pfundstein, Christof; Nötzel, Ellen Claudia; Rösch, Thomas; Faiss, Siegbert

2017-05-07

To report about the combination and advantages of a stapler-assisted diverticulotomy performed by flexible endoscopy. From November 2014 till December 2015 17 patients (8 female, 9 male, average age 69.8 years) with a symptomatic Zenker diverticulum (mean size 3.5 cm) were treated by inserting a new 5 mm fully rotatable surgical stapler (MicroCutter30 Xchange, Cardica Inc.) next to an ultrathin flexible endoscope through an overtube. The Patients were under conscious sedation with the head reclined in left position, the stapler placed centrally and pushed forward to the bottom of the diverticulum. The septum was divided by the staple rows under flexible endoscopic control. In eleven patients (64.7%) the stapler successfully divided the septum completely. Mean procedure time was 21 min, medium size of the septum was 2.8 cm (range 1.5 cm to 4 cm). In four patients the septum was shorter than 3 cm, in seven longer than 3 cm. To divide the septum, averagely 1.3 stapler cartridges were used. Two minor bleedings occurred. Major adverse events like perforation or secondary haemorrhage did not occur. After an average time of two days patients were discharged from the hospital. In 6 patients (35.3%) the stapler failed due to a thick septum or insufficient reclination of the head. Follow up endoscopy was performed after an average of two months in 9 patients; 4 patients (44.4%) were free of symptoms, 5 patients (55.6%) stated an improvement. A relapse of symptoms did not occur. Flexible endoscopic Zenker diverticulotomy by using a surgical stapler is a new, safe and efficient treatment modality. A simultaneously tissue opening and occlusion prevents major complications.

Endoscopic needle-knife treatment for symptomatic esophageal Zenker's diverticulum: A meta-analysis and systematic review.

PubMed

Li, Lian Yong; Yang, Yong Tao; Qu, Chang Min; Liang, Shu Wen; Zhong, Chang Qing; Wang, Xiao Ying; Chen, Yan; Spandorfer, Robert M; Christofaro, Sarah; Cai, Qiang

2018-04-01

The aim of this study was to assess the efficacy and safety following endoscopic management of Zenker's diverticulum (ZD) using a needle-knife technique. A systematic search of PubMed, Embase and Cochrane library databases was performed. All original studies reporting efficacy and safety of needle-knife technique for treatment of ZD were included. Pooled event rates across studies were expressed with summative statistics. Main outcomes, such as rates of immediate symptomatic response (ISR), adverse events and recurrence, were extracted, pooled and analyzed. Heterogeneity among studies was assessed using the R statistic. The random effects model was used and results were expressed with forest plots and summative statistics. Thirteen studies included 589 patients were enrolled. Pooled event rates for ISR, overall complication, bleeding and perforation were 88% (95% confidence interval [CI] 79-94%), 13% (95% CI 8-22%), 5% (95% CI 3-10%) and 7% (95% CI 4-12%), respectively. The pooled data demonstrated an overall recurrence rate of 14% (95% CI 9-21%). Diverticulum size of at least 4 cm and less than 4 cm demonstrated pooled adverse event rates of 17% (95% CI 10-27%) and 7% (95% CI 2-18%), respectively. When using diverticuloscope as an accessory, pooled ISR and adverse events rates were 84% (95% CI 58-95%) and 10% (95% CI 3-26%), respectively. Flexible endoscopic procedures using needle-knife offers a relatively safe and effective treatment of symptomatic ZD, especially for ZD of <4 cm in diameter. © 2018 Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine and John Wiley & Sons Australia, Ltd.

Prolapse of inverted ileal loops through a patent vitellointestinal duct

PubMed Central

Pathak, Ashish; Agarwal, Nitin; Singh, Poonam; Dhaneria, Mamta

2015-01-01

We report a case of a prolapsed patent vitellointestinal duct (PVID) in a 2-month-old girl child who presented with sudden increase in size of a polypoidal lesion into a large, ‘Y’-shaped reddish, prolapsing lesion, discharging gaseous and faecal matter at her umbilicus. The lesion was diagnosed as a prolapse of inverted ileal loops through the PVID. The child had no associated congenital anomalies. A transumbilical exploration was performed, followed by wedge resection and anastomosis. The child tolerated the procedure well and the postoperative course was uneventful. If the omphalomesenteric duct fails to obliterate a range of congenital defects related to the umbilicus, it can become clinically apparent. Meckel's diverticulum is the commonest of these defects but is most often asymptomatic. PVID is the most common symptomatic anomaly of the patent omphalomesenteric duct and requires prompt surgical correction to avoid complications. PMID:26494719

Prolapse of inverted ileal loops through a patent vitellointestinal duct.

PubMed

Pathak, Ashish; Agarwal, Nitin; Singh, Poonam; Dhaneria, Mamta

2015-10-22

We report a case of a prolapsed patent vitellointestinal duct (PVID) in a 2-month-old girl child who presented with sudden increase in size of a polypoidal lesion into a large, 'Y'-shaped reddish, prolapsing lesion, discharging gaseous and faecal matter at her umbilicus. The lesion was diagnosed as a prolapse of inverted ileal loops through the PVID. The child had no associated congenital anomalies. A transumbilical exploration was performed, followed by wedge resection and anastomosis. The child tolerated the procedure well and the postoperative course was uneventful. If the omphalomesenteric duct fails to obliterate a range of congenital defects related to the umbilicus, it can become clinically apparent. Meckel's diverticulum is the commonest of these defects but is most often asymptomatic. PVID is the most common symptomatic anomaly of the patent omphalomesenteric duct and requires prompt surgical correction to avoid complications. 2015 BMJ Publishing Group Ltd.

Pancreatic and Gastric Heterotopia with Associated Submucosal Lipoma Presenting as a 7-cm Obstructive Tumor of the Ileum: Resection with Double Balloon Enteroscopy.

PubMed

Jiang, Kun; Stephen, F Otis; Jeong, Daniel; Pimiento, Jose M

2015-01-01

Pancreatic and gastric heterotopias are rare clinical entities which have been identified throughout the entire length of the gastrointestinal tract. Combined gastric and pancreatic heterotopias, although unusual, have been described in the duodenum and jejunum, and in other structures, including Meckel's diverticulum and the ampulla of Vater. We report a novel case of pancreatic and gastric heterotopia with an associated submucosal lipoma in a 38-year-old female with a recent history of rectal cancer and chronic crampy abdominal pain. On computed tomography, a 7-cm luminal polypoid mass extending into the distal ileum was discovered. The mass was successfully resected using retrograde double balloon enteroscopy. We believe this is the first report of all three histological entities co-existing in an obstructive ileal lesion in an adult. It highlights endoscopic resection trough double enteroscopy as a safe alternative to more invasive surgical approaches for this type of lesion.

Vitellointestinal Duct Anomalies in Infancy.

PubMed

Kadian, Yogender Singh; Verma, Anjali; Rattan, Kamal Nain; Kajal, Pardeep

2016-01-01

Vitellointestinal duct (VID) or omphalomesenteric duct anomalies are secondary to the persistence of the embryonic vitelline duct, which normally obliterates by weeks 5-9 of intrauterine life. This is a retrospective analysis of a total of 16 patients of symptomatic remnants of vitellointestinal duct from period of Jan 2009 to May 2013. Male to female ratio (M:F) was 4.3:1 and mean age of presentation was 2 months and their mode of presentation was: patent VID in 9 (56.25%) patients, umbilical cyst in 2(12.25%), umbilical granuloma in 2 (12.25%), and Meckel diverticulum as content of hernia sac in obstructed umbilical hernia in 1 (6.25%) patient. Two patients with umbilical fistula had severe electrolyte disturbance and died without surgical intervention. Persistent VID may have varied presentations in infancy. High output umbilical fistula and excessive bowel prolapse demand urgent surgical intervention to avoid morbidity and mortality.

New flexible endoscopic controlled stapler technique for the treatment of Zenker's diverticulum: A case series

PubMed Central

Wilmsen, Johanna; Baumbach, Robert; Stüker, Dietmar; Weingart, Vincens; Neser, Frank; Gölder, Stefan Karl; Pfundstein, Christof; Nötzel, Ellen Claudia; Rösch, Thomas; Faiss, Siegbert

2017-01-01

AIM To report about the combination and advantages of a stapler-assisted diverticulotomy performed by flexible endoscopy. METHODS From November 2014 till December 2015 17 patients (8 female, 9 male, average age 69.8 years) with a symptomatic Zenker diverticulum (mean size 3.5 cm) were treated by inserting a new 5 mm fully rotatable surgical stapler (MicroCutter30 Xchange, Cardica Inc.) next to an ultrathin flexible endoscope through an overtube. The Patients were under conscious sedation with the head reclined in left position, the stapler placed centrally and pushed forward to the bottom of the diverticulum. The septum was divided by the staple rows under flexible endoscopic control. RESULTS In eleven patients (64.7%) the stapler successfully divided the septum completely. Mean procedure time was 21 min, medium size of the septum was 2.8 cm (range 1.5 cm to 4 cm). In four patients the septum was shorter than 3 cm, in seven longer than 3 cm. To divide the septum, averagely 1.3 stapler cartridges were used. Two minor bleedings occurred. Major adverse events like perforation or secondary haemorrhage did not occur. After an average time of two days patients were discharged from the hospital. In 6 patients (35.3%) the stapler failed due to a thick septum or insufficient reclination of the head. Follow up endoscopy was performed after an average of two months in 9 patients; 4 patients (44.4%) were free of symptoms, 5 patients (55.6%) stated an improvement. A relapse of symptoms did not occur. CONCLUSION Flexible endoscopic Zenker diverticulotomy by using a surgical stapler is a new, safe and efficient treatment modality. A simultaneously tissue opening and occlusion prevents major complications. PMID:28533665

[Urethral diverticulum. Our casuistic and the literatura review].

PubMed

Ramírez Backhaus, M; Trassierra Villa, M; Broseta Rico, E; Gimeno Argente, V; Arlandis Guzmán, S; Alonso Gorrea, M; Jiménez Cruz, J F

2007-09-01

The possible etiopathogenic factors, symptoms, diagnostic methods, surgical management and complications of the urethral diverticula are reviewed. A retrospective study of the clinical charts with urethral diverticula diagnosis during the period 1986-2006 was carried out. In the last 20 years a total of 19 patients have been treated for this pathology: 15 females and 4 males. Five of the females started with a sensation of vaginal mass; the rest were diagnosed of micturitional (irritative) syndrome, urinary incontinence or urinary infection. In the case of males, 3 of them had a palpable tumour in the penis. The most used diagnostic method was retrograde and voiding cystourethrography; urethrography with double-occlusion balloon catheter was used in 5 cases and urethroscopy in 4 patients; other techniques of image diagnosis like magnetic resonance imaging were necessary for the most complex cases. The treatment was the excision of the diverticulum, except for one of the females who rejected the treatment. The evolution in all treated women was successful, according to follow up 2 years after the treatment. In males, two of them had complex recurrent diverticula. Urethral diverticula are nosologic entities of difficult diagnosis, due to their low prevalence and their unspecific clinic, therefore diagnosis is sometimes incidental. The etiopathogenity is acquired in most cases and its surgical treatment is more challenging in males than in females probably linked to the fact that diverticula appear in urethras with previous surgery, endourologic manipulation or associated injuries.

Isolated, broad-based apical diverticulum: cardiac magnetic resonance is a "terminator" of cardiac imaging modality for the evaluation of cardiac apex.

PubMed

Ahn, Hyo-Suk; Kim, Hyung-Kwan; Park, Eun-Ah; Lee, Whal; Park, Jae-Hyung; Sohn, Dae-Won

2013-10-01

In spite of the frequent involvement of many cardiac diseases, it is difficult to evaluate the left ventricular apex in detail with transthoracic echocardiography, a first-line imaging modality in cardiovascular diseases, because the apex is very closely located at the echocardiographic probe. Cardiac magnetic resonance enables us to evaluate the cardiac apex without any limitation to the image acquisition. We here present a case regarding a broad-based apical diverticulum, which was initially confused with apical aneurysm.

Waugh's Syndrome: Blessing in Disguise.

PubMed

Behera, Chinmaya Ranjan; Mohanty, Subrat K

2014-10-01

Waugh's syndrome is the association between intestinal malrotion and intussusceptions. We report a case of Waugh's syndrome in a one year old child who presented to us with acute bowel obstruction and bleeding per rectum. Due to malrotation, there was easy prolapsing of ileocolic region into the nonfixed ascending colon and the intussusceptum advanced into the descending colon and rectum without compromising vascularity of the bowel. In most of the cases the intussusceptum advancing into the rectum is associated with bowel gangrene even when ceacum is mobile. But in our case, mobile caecum with malrotation proved to be blessing in disguise in preventing such a complication. A Meckel's diverticulum was also an incidental finding in this case. Waugh's syndrome is missed in cases of close reduction of intussusception and may be a reason for recurrence. Though a rare entity, the probability of Waugh's syndrome should be kept in mind during surgery, during hydrostatic reduction of intussusceptions, and in case of recurrent ileocolic intussusceptions.

Vitellointestinal Duct Anomalies in Infancy

PubMed Central

Kadian, Yogender Singh; Verma, Anjali; Rattan, Kamal Nain; Kajal, Pardeep

2016-01-01

Background: Vitellointestinal duct (VID) or omphalomesenteric duct anomalies are secondary to the persistence of the embryonic vitelline duct, which normally obliterates by weeks 5–9 of intrauterine life. Methods: This is a retrospective analysis of a total of 16 patients of symptomatic remnants of vitellointestinal duct from period of Jan 2009 to May 2013. Results: Male to female ratio (M:F) was 4.3:1 and mean age of presentation was 2 months and their mode of presentation was: patent VID in 9 (56.25%) patients, umbilical cyst in 2(12.25%), umbilical granuloma in 2 (12.25%), and Meckel diverticulum as content of hernia sac in obstructed umbilical hernia in 1 (6.25%) patient. Two patients with umbilical fistula had severe electrolyte disturbance and died without surgical intervention. Conclusion: Persistent VID may have varied presentations in infancy. High output umbilical fistula and excessive bowel prolapse demand urgent surgical intervention to avoid morbidity and mortality. PMID:27433448

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.

[A rare case of intussusception in a seventeen year old boy: diagnosis, management and review of the literature.

PubMed

Rossi, Enrica; Basile, Massimo; Narese, Donatella; Ognibene, Noemi; Poggesi, Sara; Cangelosi, Marta; Defilippi, Claudio

2017-04-01

Intussusception is the most common cause of intestinal obstruction and acute abdomen in the first year of life. Approximately in the 80% of cases intussusception occurs when the last ileal loop is pulled into the cecum, passing through the ileocecal valve, and finally resulting in the displacement of cecum in the upper abdominal. It could be related with mesenteric adenitis because enlarged lymph nodes, together with peristalsis, can serve as "lead point". Other forms of intussusception are ileo-ileal and colo-colic. The aetiology in infants and adults can be very variable and most often linked with secondary causes, such as benign or malignant lesions (polyps, tumors, lymphomas, intestinal duplication cyst, Meckel's diverticulum). In this paper we describe a rare case of idiopathic ileo-ileal intussusception in a 17 year old boy. We also discuss, with a careful analysis of the literature, the diagnostic and therapeutic protocol in case of intussusception ileo-colic approved at the Meyer Children's Hospital.

"Laparoscopic excision of a large ovarian cyst herniating into the inguinal canal: a rare presentation".

PubMed

Machado, Norman Oneil; Machado, Lovina S M; Al Ghafri, Wadha

2011-08-01

Inguinal hernia repair is one of the most common operation in surgical practice. Despite its common occurrence, hernia often poses a surgical dilemma even for a skilled surgeon. The unexpected hernial content constitutes one of these cases. Although the often-reported, unusual contents of a hernia sac include ovary, fallopian tube, vermiform appendix, Meckel diverticulum, and urinary bladder, the herniation of a large ovarian cyst into the inguinal canal has been hardly reported. Majority of the ovarian cysts are asymptomatic or present with vague lower abdominal pain, whereas the presentation of a large ovarian cyst as an inguinolabial swelling as in our patient is extremely rare. We present here one of the few reported cases of a laparoscopic excision of a large ovarian cyst herniating into the inguinal canal and discuss the pathogenesis of an ovarian cyst as hernial content, the advantages and concerns of a laparoscopic approach in resecting large ovarian cysts, and simultaneous management of the inguinal hernia.

New endoscopic "scissors" to treat Zenker's diverticulum (with video).

PubMed

Ramchandani, Mohan; Nageshwar Reddy, D

2013-10-01

Zenker's diverticulum (ZD) is a rare disorder but is associated with significant morbidity. Cricopharyngeal (CP) myotomy is the mainstay of treatment, and various flexible endoscopic techniques have been used for division of the septum. However, there is a constant need for improvement in accessories. To evaluate the safety and effectiveness of a new electrocautery endoscopic scissor for CP myotomy in patients with symptomatic ZD. Observational human study. Tertiary-care hospital. This study involved 3 patients with symptomatic ZD. Flexible endoscopic CP myotomy was performed by using a novel scissors-type grasping device. CP myotomy involved 4 steps: (1) opening of the forceps, (2) grasping the muscle fiber, (3) closure of the forceps with application of gentle traction, and (4) dissection of muscle fibers by using cutting current. Intraprocedural bleeding was controlled with the same instrument by grasping vessels and applying coagulation current. Overall feasibility and performance, procedure time to achieve complete CP myotomy. CP myotomy was successfully performed in all patients. Mean procedure time was 10.6 minutes. There were no major adverse events. Minor intraprocedure bleeding occurred in 1 patient. Single arm, limited number of patients. The new instrument has potential advantages in comparison with standard instruments used for CP myotomy. The advantages of this new technique are better control of cutting and hemostatic abilities. Copyright © 2013 American Society for Gastrointestinal Endoscopy. Published by Mosby, Inc. All rights reserved.

Traumatic tracheal diverticulum corrected with resection and anastomosis during one-lung ventilation and total intravenous anesthesia in a cat.

PubMed

Sayre, Rebecca S; Lepiz, Mauricio; Wall, Corey; Thieman-Mankin, Kelley; Dobbin, Jennifer

2016-11-01

This report describes the clinical findings and diagnostic images of a traumatic intrathoracic tracheal avulsion with a tracheal diverticulum in a cat. Furthermore, a complete description of the tracheal resection and anastomosis using one-lung ventilation (OLV) with total and partial intravenous anesthesia is made. A 3-year-old neutered male domestic shorthair cat weighing 6.8 kg was presented to the University Teaching Hospital for evaluation of increased respiratory noise 3 months following unknown trauma. Approximately 12 weeks prior to presentation, the cat had been seen by the primary care veterinarian for respiratory distress. At that time, the cat had undergone a tracheal ballooning procedure for a distal tracheal stricture diagnosed by tracheoscopy. The tracheal ballooning had provided only temporary relief. At presentation to our institution, the cat had increased respiratory effort with harsh upper airway noise auscultated during thoracic examination. The remainder of the physical examination was normal. Diagnostics included a tracheoscopy and a thoracic computed tomographic examination. The cat was diagnosed with tracheal avulsion, pseudotrachea with a tracheal diverticulum, and stenosis of the avulsed tracheal ends. Surgical correction of the tracheal stricture via a thoracotomy was performed using OLV with total and partial intravenous anesthesia. The cat recovered uneventfully and at last follow-up was active and doing well. This case report describes OLV using standard anesthesia equipment that is available at most private practices. Furthermore, this case describes the computed tomographic images of the intrathoracic tracheal avulsion and offers a positive outcome for tracheal resection and anastomosis. © Veterinary Emergency and Critical Care Society 2015.

Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.

PubMed

Hartill, Verity; Szymanska, Katarzyna; Sharif, Saghira Malik; Wheway, Gabrielle; Johnson, Colin A

2017-01-01

Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of the primary cilium. Conditions that are caused by mutations in ciliary genes are collectively termed the ciliopathies, and MKS represents the most severe condition in this group of disorders. The primary cilium is a microtubule-based organelle, projecting from the apical surface of vertebrate cells. It acts as an "antenna" that receives and transduces chemosensory and mechanosensory signals, but also regulates diverse signaling pathways, such as Wnt and Shh, that have important roles during embryonic development. Most MKS proteins localize to a distinct ciliary compartment called the transition zone (TZ) that regulates the trafficking of cargo proteins or lipids. In this review, we provide an up-to-date summary of MKS clinical features, molecular genetics, and clinical diagnosis. MKS has a highly variable phenotype, extreme genetic heterogeneity, and displays allelism with other related ciliopathies such as Joubert syndrome, presenting significant challenges to diagnosis. Recent advances in genetic technology, with the widespread use of multi-gene panels for molecular testing, have significantly improved diagnosis, genetic counseling, and the clinical management of MKS families. These include the description of some limited genotype-phenotype correlations. We discuss recent insights into the molecular basis of disease in MKS, since the functions of some of the relevant ciliary proteins have now been determined. A common molecular etiology appears to be disruption of ciliary TZ structure and function, affecting essential developmental signaling and the regulation of secondary messengers.

Are Online Zenker's Diverticulum Materials Readable and Understandable?

PubMed

Balakrishnan, Vini; Chandy, Zachariah; Verma, Sunil P

2016-11-01

Patients use a multitude of resources to learn about Zenker's diverticulum (ZD). The objectives of this study were to assess the readability and understandability of online materials on ZD, evaluate them against the existing criteria, and investigate the relationship between readability and understandability. The first 50 webpages from an online search for ZD were analyzed. Twenty-one webpages had materials intended for patients and were included in the study. The patient education materials (PEMs) were analyzed using 6 readability tools. Four individuals used the Patient Education Materials Evaluation Tool (PEMAT) to assess the understandability. Fleiss κ interrater reliability analysis determined consistency among the raters. Finally, Pearson correlation coefficient analyzed the relationship between readability and understandability. The reading grade level of the materials reviewed ranged from 10th to 16th grade while the understandability ranged from 31% to 74%. Correlation analysis demonstrated a strong negative correlation between readability and understandability (r = -0.62, P < .05). Fleiss' κ interrater reliability for the raters demonstrated substantial agreement between the 4 raters (κ = 0.64). Online PEMs pertaining to ZD are written well above the recommended reading level. Materials written at a lower reading level are more understandable. A wide range of understandability exists among materials with identical reading grade levels. Health care providers need to create new PEMs for ZD that are available online that are both readable and understandable. The PEMAT and readability formulas can provide a framework for authors to create these materials. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2016.

New flexible endoscopic controlled stapler technique for the treatment of Zenker's diverticulum.

PubMed

Faiss, Siegbert; Falck, Stephan; Cordruwisch, Wolfgang; Oldhafer, Karl-Jürgen; Baumbach, Robert

2015-01-01

Zenker´s diverticulum (ZD) is a rare cause of dysphagia. Various surgical and flexible endoscopic therapies are available with either higher morbidity or either higher recurrence rate. Therefore, improved treatment options are needed. This case report involves an 83-year-old female patient with symptomatic ZD. Under flexible endoscopic control, a new 5 mm fully rotatable surgical stapler was used for the dissection of the septum between the ZD and the esophageal lumen. An ultrathin endoscope and the 5 mm stapler were introduced together through a flexible overtube under conscious sedation. ZD treatment with this new stapler technique was feasible and effective in our patient. Procedure time was 10 min. Clinical symptoms improved immediately and the patient could be discharged the day after the procedure. The described stapler technique under flexible endoscopic control is the first report of this new treatment option for ZD. This new technique under conscious sedation may have some potential advantages compared to standard techniques such as better long-term results and lower complication rates. Further studies are needed.

MRI of acquired posterior urethral diverticulum following surgery for anorectal malformations.

PubMed

Podberesky, Daniel J; Weaver, Nicholas C; Anton, Christopher G; Lawal, Taiwo; Hamrick, Miller C; Alam, Shumyle; Peña, Alberto; Levitt, Marc A

2011-09-01

Posterior urethral diverticulum (PUD) is one of the most common postoperative complications associated with anorectal malformation (ARM) correction. To describe our MRI protocol for evaluating acquired PUD following ARM surgery, and associated imaging findings. Two radiologists retrospectively reviewed 61 pelvic MRI examinations performed for postoperative ARM for PUD identification and characteristics. Associated clinical, operative and cystoscopy reports were also reviewed and compared to MRI. An abnormal retrourethral focus suspicious for PUD was identified at MRI in 13 patients. Ten of these patients underwent subsequent surgery or cystoscopy, and PUD was confirmed in five. All of the confirmed PUD cases appeared as cystic lesions that were at least 1 cm in diameter in two imaging planes. Four of the false-positive cases were punctate retrourethral foci that were visible only on a single MRI plane. One patient had a seminal vesical cyst mimicking a PUD. Pelvic MRI can be a useful tool in the postoperative assessment of suspected PUD associated with ARM. Radiologists should have a high clinical suspicion for a postoperative PUD when a cystic lesion posterior to the bladder/posterior urethra is encountered on two imaging planes in these patients.

Epidermoid cyst in Meckel's cave with unusual computed tomography and magnetic resonance imaging findings. Case report.

PubMed

Arai, Atsushi; Sasayama, Takashi; Koyama, Junji; Fujita, Atsushi; Hosoda, Kohkichi; Kohmura, Eiji

2010-01-01

A 27-year-old woman presented with headache and occasional numbness over her right face. Computed tomography revealed a hypodense mass in the middle cranial fossa and another adjacent hyperdense mass in the posterior fossa with erosion of the right petrous apex. Magnetic resonance imaging revealed the lesion in the middle cranial fossa as iso- to hypointense on T(1)-weighted and hyperintense on T(2)-weighted imaging, with peripheral enhancement after gadolinium administration, and the adjacent lesion in the posterior fossa as hyperintense on T(1)-weighted and hypointense on T(2)-weighted imaging. During surgery, these lesions mimicking two adjacent distinct tumors were revealed to connect through Meckel's cave. The hypodense lesion in the middle cranial fossa consisted of pearly-like solid contents, and the hyperdense lesion in the posterior cranial fossa consisted of viscid dark-green materials. The tumors were gross totally resected with endoscopic assistance. Histological examination confirmed that the tumor was an epidermoid cyst. The present case cyst indicates that although the diffusion-weighted imaging sequence is useful for detection of intracranial epidermoid cysts, epidermoid cysts including viscous materials with unusual radiological findings could complicate the preoperative diagnosis.

[Anterior urethral valves and anterior urethral diverticulum, are they same entity?

PubMed

Calleja Aguayo, E; Hernández Calvarro, A E; Bregante Ucedo, J; Marhuenda Irastorza, C

2015-04-15

We present our experience in the diagnosis and management of anterior urethral valves (AUV) and anterior urethral diverticula (AUD) as well as review of the bibliography. We retrospectively evaluated all the cases of the AUV and AUD treated in our hospital during the last 10 years. The clinical exploration, renal function study and renal and bladder ultrasound were evaluated in all the children. The diagnosis was completed with voiding cystography (VCUG) and cystoscopy as well as nuclear study in the relevant patients. Four patients have been treated in our center. AUV was suspected in those children with narrowing of the anterior urethra and thickened bladder with trabeculations at the VCUG. These findings were noticed in 50% of the patients, which also had a neonatal presentation. The diagnosis was confirmed by cystoscopy that allowed the endoscopic resection at the same procedure. The boys with AUD were managed by excision of the diverticulum with urethroplasty. On the follow up, one patient who had AUV, presented renal involvement in the nuclear scans with normal renal function. In our experience, the AUV and AUD behave as two different entities in terms of clinical presentation and treatment. The AUV have been effectively treated with endoscopic surgery and the AUD have pointed out open surgery, as described in the literature.

Balloon-assisted enteroscopy for suspected Meckel’s diverticulum and indefinite diagnostic imaging workup

PubMed Central

Gomes, Guilherme Francisco; Bonin, Eduardo Aimore; Noda, Rafael William; Cavazzola, Leandro Totti; Bartholomei, Thiago Ferreira

2016-01-01

Meckel’s diverticulum (MD) is estimated to affect 1%-2% of the general population, and it represents a clinically silent finding of a congenital anomaly in up to 85% of the cases. In adults, MD may cause symptoms, such as overt occult lower gastrointestinal bleeding. The diagnostic imaging workup includes computed tomography scan, magnetic resonance imaging enterography, technetium 99m scintigraphy (99mTc) using either labeled red blood cells or pertechnetate (known as the Meckel’s scan) and angiography. The preoperative detection rate of MD in adults is low, and many patients ultimately undergo exploratory laparoscopy. More recently, however, endoscopic identification of MD has been possible with the use of balloon-assisted enteroscopy via direct luminal access, which also provides visualization of the diverticular ostium. The aim of this study was to review the diagnosis by double-balloon enteroscopy of 4 adults with symptomatic MD but who had negative diagnostic imaging workups. These cases indicate that balloon-assisted enteroscopy is a valuable diagnostic method and should be considered in adult patients who have suspected MD and indefinite findings on diagnostic imaging workup, including negative Meckel’s scan. PMID:27803776

Anatomy of Meckel's cave and the trigeminal ganglion: anatomical landmarks for a safer approach to them.

PubMed

Arslan, Mehmet; Deda, Haluk; Avci, Emel; Elhan, Alaittin; Tekdemir, Ibrahim; Tubbs, R Shane; Silav, Gokalp; Yilmaz, Erdal; Baskaya, Mustafa Kemal

2012-01-01

Surgical approaches to Meckel's cave (MC) are often technically difficult and sometimes associated with postoperative morbidity. The relationship of surgical landmarks to relevant anatomy is important. Therefore, we attempted to delineate quantitatively their anatomy and the relationships between MC and surrounding structures. With the aid of a surgical microscope, MC and its contents were studied in 15 formalin-fixed cadaver head specimens. Measurements were made and their relationships were observed. The distance from the zygomatic arch and the lateral end of the petrous ridge to MC was 26.5 and 34.4 mm, respectively. The distance from the arcuate eminence, the facial nerve hiatus, and the foramen spinosum to MC was 16.6, 12.8 and 7.46 mm respectively. The TG lay 5.81 mm posterior to the foramen ovale. The distance from the abducens, trochlear and oculomotor nerves to the trigeminal ganglion was 1.87, 5.53 and 6.57 mm respectively. The distance from the posterior and the anterior walls of the sigmoid sinus to the trigeminal porus was 43.6 and 33.1 mm respectively. The trigeminal porus was on average 7.19 mm from the anterior wall of the internal acoustic meatus. The anatomical landmarks as presented herein regarding MC may be used for a safer skull base approach to the region.

Laser versus stapler: outcomes in endoscopic repair of Zenker diverticulum.

PubMed

Adam, Stewart I; Paskhover, Boris; Sasaki, Clarence T

2012-09-01

To analyze a single surgeon's experience with endoscopic CO(2) laser and stapler repair of Zenker diverticulum (ZD) by comparing dysphagia and regurgitation outcomes. Retrospective chart review of 148 patient charts. Medical records of all patients receiving endoscopic repair of ZD with either CO(2) laser (61 patients) or stapler (67 patients) were reviewed. Additional data included demographics (age and sex), size (cm), preoperative and postoperative symptoms, need for revision, and complications. Symptoms of dysphagia were graded based on a modified Functional Oral Intake Scale 1 to 4 scale (1 = normal intake; 4 = severely limited/G-tube dependent). Regurgitation was also graded on a 1 to 4 scale (1 = no regurgitation; 4 = aspiration events). We noted no difference in patient age or defect size (laser, 3.26 cm; stapler, 3.53 cm; P .135). Significant differences were noted in return trips to the operating room for failed procedures (laser, 0; stapler, 7; P = .009), length of stay (laser, 3.19 days; stapler, 1.29 days; P < .001), time to oral intake (laser, 3.01 days; stapler, 1.22 days; P < .001). Significant improvement occurred in laser and staple patient symptom scales following surgery (P < .001). Laser dysphagia and regurgitation scores showed greater improvement when compared to stapler scores (P < .001). Endoscopic CO(2) laser and staple methods are effective in treating ZD. The laser can have greater efficacy and result in lower recurrence rates. Both methods are analyzed and compared. Copyright © 2012 The American Laryngological, Rhinological, and Otological Society, Inc.

Pharyngeal dilation in cricopharyngeus muscle dysfunction and Zenker diverticulum.

PubMed

Belafsky, Peter C; Rees, Catherine J; Allen, Jacqueline; Leonard, Rebecca J

2010-05-01

Prolonged obstruction at the level of the lower esophageal sphincter is associated with a dilated, poorly contractile esophagus. The association between prolonged obstruction at the level of the upper esophageal sphincter (UES) and dilation and diminished contractility of the pharynx is uncertain. The purpose of this investigation was to evaluate the association between prolonged obstruction at the level of the UES and dilation and diminished contractility of the pharynx. Case-control study. The fluoroscopic swallow studies of all persons with cricopharyngeus muscle dysfunction (CPD) diagnosed between January 1, 2006 and December 31, 2008 were retrospectively reviewed from a clinical database. Three categories of CPD were defined: nonobstructing cricopharyngeal bars (CPBs), obstructing CPBs, and Zenker diverticulum (ZD). The primary outcome measure was the pharyngeal constriction ratio (PCR), a surrogate measure of pharyngeal strength on fluoroscopy. Secondary outcome measures included pharyngeal area in the lateral fluoroscopic view and UES opening. The outcome measures were compared between groups and to a cohort of nondysphagic age- and gender-matched controls with the analysis of variance. A total of 100 fluoroscopic swallow studies were evaluated. The mean age (+ or -standard deviation) of the cohort was 70 years (+ or -10 years). Thirty-six percent were female. The mean PCR progressively increased, indicating diminishing pharyngeal strength, from the normal (0.08), to the nonobstructing CPB (0.13), to the obstructing CPB (0.22), to the ZD group (0.28) (P < .001 with trend for linearity). There was a linear increase in pharyngeal area from the normal (8.75 cm(2)) to the nonobstructing CPB (10.00 cm(2)), to the obstructing CPB (10.46 cm(2)), to the ZD group (11.82 cm(2)) (P < .01 with trend for linearity). The data suggest that there is an association between cricopharyngeus muscle dysfunction and progressive dilation and weakness of the pharynx. Laryngoscope

Obstructive internal hernia caused by mesodiverticular bands in children

PubMed Central

Bertozzi, Mirko; Melissa, Berardino; Magrini, Elisa; Di Cara, Giuseppe; Esposito, Susanna; Apignani, Antonino

2017-01-01

Abstract Introduction: The mesodiverticular band (MDB) is an embryologic remnant of the vitelline circulation, which carries the arterial supply to the Meckel diverticulum. In the event of an error of involution, a patent or nonpatent arterial band persists and extends from the mesentery to the apex of the antimesenteric diverticulum. This creates a snare-like opening through which bowel loops may herniate and become obstructed. This report describes 2 rare cases of small bowel occlusion owing to an internal hernia caused by a MDB. Cases: Case 1 was a 5-year-old boy who presented to our Emergency Department with colicky abdominal pain diffused to all abdominal quadrants. He also had 5 episodes of emesis, the last with bilious vomiting. Case 2, a 12-year-old boy, presented to our Emergency Department complaining of colicky abdominal pain. He had 2 episodes of nonbilious emesis. On physical examination, both children showed distension and tenderness of the abdomen and abdominal x-ray and ultrasound confirmed an occlusive picture without an apparent etiology. In case 1, an urgent laparotomy was performed and the MDB was ligated and cut, whereas in case 2 diagnosis and excision were performed in laparotomy. In both patients, there was a positive clinical evolution. Conclusion: Although MDB causing internal hernia is very rare, it should be considered in patients with a clinical picture of small bowel obstruction. In these cases, early surgery is important to prevent strangulation and gangrene of the bowel and to avoid dramatic events. Moreover, laparoscopy seems a safe and effective technique in these patients, especially in children with mild abdominal distention without surgical or trauma history, highlighting that further studies on the value of laparoscopy for the treatment of small bowel obstruction in pediatric patients are urgently needed. PMID:29145243

Rare Mesenteric Location of Meckel’s Diverticulum, A Forgotten Entity: A Case Study Aboard USS Kitty Hawk

DTIC Science & Technology

2004-11-01

Diverticular disease of the small bowel. In Cameron JL. ed. Current Surgical Therapy. St. Louis: Mosby. 2001. 8. Cullen JJ, Kelly KA. Moir CR. et. al. Surgical...Palpation of the colon and liver revealed no obvious masses. An ap- pendectomy was performed, and the incision was closed in a routine fashion. This...systems. Mesenteric abscess from Crohn’s disease was also considered unlikely because the patient did not exhibit typical signs and sytnptoms of

Revision Zenker diverticulum: laser versus stapler outcomes following initial endoscopic failure.

PubMed

Adam, Stewart I; Paskhover, Boris; Sasaki, Clarence T

2013-04-01

We used a retrospective chart review to analyze revision endoscopic carbon dioxide (CO2) laser and staple repairs of recurrent Zenker diverticulum (ZD). The medical records of patients with recurrent ZD after primary endoscopic repair were selected. The chart data included method of repair (CO2 laser or stapler), demographics (age and sex), defect size (in centimeters), preoperative and postoperative symptoms, and complications. Patients' dysphagia was graded on a modified Functional Oral Intake Scale from 1 to 4 (1 being normal intake and 4 being severely limited intake or gastrostomy tube dependence). Regurgitation was also graded on a 1-to-4 scale (1 being no regurgitation and 4 being aspiration). A total of 148 consecutive patients with ZD were treated with endoscopic repair between 2000 and 2010. Twelve of these patients had revisions after failed primary endoscopic management procedures, all done with the stapler. Eight revision surgeries were performed by CO2 laser, and 4 by stapler repair. No difference was noted in patient age or defect size (laser, 3.06-cm defects; stapler, 2.75-cm defects). The length of hospital stay and the time to oral intake for the patients who had a revision stapler procedure were significantly greater (p values of 0.029 and 0.009) than those for the patients in the primary stapler procedure group. Better postoperative regurgitation scores were noted for patients who had a CO2 laser procedure. Secondary endoscopic repair for ZD recurrence is an effective treatment method. Better symptom outcomes were observed with secondary CO2 laser repair than with stapler revision. Patients with revision stapling had longer hospital stays and a longer time to oral intake than did patients with primary staple repairs.

Female Urethral Diverticulum: Presentation, Diagnosis, and Predictors of Outcomes After Surgery

PubMed Central

El-Nashar, Sherif A.; Singh, Ruchira; Bacon, Melissa M.; Kim-Fine, Shunaha; Occhino, John A.; Gebhart, John B.; Klingele, Christopher J.

2017-01-01

Introduction and Hypothesis To report on clinical presentation, diagnosis, and outcomes after treatment of female urethral diverticulum (UD). Methods Using a record linkage system, women with a new diagnosis of UD at Mayo Clinic from January 1, 1980, through December 31, 2011, were identified. The presenting symptoms, clinical characteristics, diagnosis, and management of women presenting with UD were recorded. Outcomes after surgery were assessed using survival analysis. All statistical analyses were 2-sided and P values less than 0.05 were considered significant. Statistical analysis was done using SAS version 9.2 and JMP version 9.0 (SAS Institute Inc.). Results A total of 164 cases were identified. Median age at diagnosis was 46 years (range, 21–83). The most common presenting symptom was recurrent urinary tract infection (98, 59.8%), followed by urinary incontinence (81, 49.4%), dysuria (62, 37.8%), dyspareunia (37, 22.6%), and hematuria (15, 9.1%). Examination revealed vaginal mass in 55 (33.5%) of the women. A significant trend was noted toward an increase in use of both magnetic resonance imaging and computed tomography (P < 0.001) along with a progressive decrease in use of urethrogram (P < 0.001) for diagnosis of UD over the years. Among 114 women who underwent surgical treatment for UD, 14(12.3%) women presented with recurrent UD and the 5-year recurrence rate after surgery for UD was 23.4% (95% confidence interval, 13.9–37.0) and a reoperation rate of 17.0% (95% confidence interval, 8.8–30.2) at 5 years. Conclusions Female UD is a rare and unique condition. Clinical presentation is usually nonspecific, and magnetic resonance imaging is commonly used for confirming the diagnosis. Recurrence is not uncommon, and repeat surgical intervention might be needed. PMID:27636213

Surgical treatment of an acquired posterior urethral diverticulum with cystoscopy assisted robotic technique.

PubMed

Guneri, Cagri; Kirac, Mustafa; Biri, Hasan

2017-03-01

A 42-year-old man with a history of recurrent urethral stenosis, recurrent urinary tract infection and macroscopic hematuria has referred to our clinic. He underwent several internal urethrotomies and currently using clean intermittent self-catheterization. During the internal urethrotomy, we noted a large posterior urethral diverticulum (UD) between verumontanum and bladder neck. His obstructive symptoms were resolved after the catheter removal. But perineal discomfort, urgency and dysuria were prolonged about 3-4 weeks. Urinalysis and urine culture confirmed recurrent urinary tract infections. Due to this conditions and symptoms, we planned a surgical approach which was planned as transperitoneal robotic-assisted laparoscopic approach. This technique is still applied for the diverticulectomy of the bladder. In addition to this we utilized the cystoscopy equipments for assistance. During this process, cystoscope was placed in the UD to help the identification of UD from adjacent tissues like seminal vesicles by its movement and translumination. Operating time was 185 min. On the post-operative third day he was discharged. Foley catheter was removed after 2 weeks. Urination was quite satisfactory. His perineal discomfort was resolved. The pathology report confirmed epidermoid (tailgut) cyst of the prostate. Urethrogram showed no radiologic signs of UD after 4 weeks. Irritative and obstructive symptoms were completely resolved after 3 months. No urinary incontinence, erectile dysfunction or retrograde ejaculation was noted. While posterior UD is an extremely rare situation, surgical treatment of posterior UD remains uncertain. To our knowledge, no above-mentioned cystoscopy assisted robotic technique for the treatment was described in the literature.

Small Bowel Obstruction due to Anomalous Congenital Bands in Children.

PubMed

Erginel, Basak; Soysal, Feryal Gun; Ozbey, Huseyin; Keskin, Erbug; Celik, Alaattin; Karadag, Aslı; Salman, Tansu

2016-01-01

Introduction. The aim of the study was to evaluate our children who are operated on for anomalous congenital band while increasing the awareness of this rare reason of intestinal obstruction in children which causes a diagnostic challenge. Patients and Methods. We retrospectively reviewed the records of fourteen children treated surgically for intestinal obstructions caused by anomalous congenital bands. Results. The bands were located between the following regions: the ascending colon and the mesentery of the terminal ileum in 4 patients, the jejunum and mesentery of the terminal ileum in 3 patients, the ileum and mesentery of the terminal ileum in 2 patients, the ligament of Treitz and mesentery of the jejunum in one patient, the ligament of Treitz and mesentery of the terminal ileum in one patient, duodenum and duodenum in one patient, the ileum and mesentery of the ileum in one patient, the jejunum and mesentery of the jejunum in one patient, and Meckel's diverticulum and its ileal mesentery in one patient. Band excision was adequate in all of the patients except the two who received resection anastomosis for intestinal necrosis. Conclusion. Although congenital anomalous bands are rare, they should be considered in the differential diagnosis of patients with an intestinal obstruction.

Incidental finding of carcinoid tumor on Meckel’s diverticulum: case report and literature review, should prophylactic resection be recommended?

PubMed Central

2014-01-01

Meckel’s diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract and is caused by incomplete obliteration of the vitelline duct during intrauterine life. MD affects less than 2% of the population. In most cases, MD is asymptomatic and the estimated average complication risk of MD carriers, which is inversely proportional to age, ranges between 2% and 4%. The most common MD-related complications are gastrointestinal bleeding, intestinal obstruction and acute phlogosis. Excision is mandatory in the case of symptomatic diverticula regardless of age, while surgical treatment for asymptomatic diverticula remains controversial. According to the majority of studies, the incidental finding of MD in children is an indication for surgical resection, while the management of adults is not yet unanimous. In this case report, we describe the prophylactic resection of an incidentally detected MD, which led to the removal of an occult mucosal carcinoid tumor. In literature, the association of MD and carcinoid tumor is reported as a rare finding. Even though the strategy for adult patients of an incidental finding of MD during surgery performed for other reasons divides the experts, we recommend prophylactic excision in order to avoid any further risk. PMID:24884768

Laparoscopic diverticulectomy with the aid of intraoperative gastrointestinal endoscopy to treat epiphrenic diverticulum.

PubMed

Yu, Lei; Wu, Ji-Xiang; Chen, Xiao-Hong; Zhang, Yun-Feng; Ke, Ji

2016-01-01

Most researchers believe that the presence of large epiphrenic diverticulum (ED) with severe symptoms should lead to the consideration of surgical options. The choice of minimally invasive techniques and whether Heller myotomy with antireflux fundoplication should be employed after diverticulectomy became points of debate. The aim of this study was to describe how to perform laparoscopic transhiatal diverticulectomy (LTD) and oesophagomyotomy with the aid of intraoperative gastrointestinal (GI) endoscopy and how to investigate whether the oesophagomyotomy should be performed routinely after LTD. From 2008 to 2013, 11 patients with ED underwent LTD with the aid of intraoperative GI endoscopy at our department. Before surgery, 4 patients successfully underwent oesophageal manometry: Oesophageal dysfunction and an increase of the lower oesophageal sphincter pressure (LESP) were found in 2 patients. There were 2 cases of conversion to an open transthoracic procedure. Six patients underwent LTD, Heller myotomy and Dor fundoplication; and 3 patients underwent only LTD. The dysphagia and regurgitation 11 patients experienced before surgery improved significantly. Motor function studies showed that there was no oesophageal peristalsis in 5 patients during follow-up, while 6 patients showed seemingly normal oesophageal motility. The LESP of 6 patients undergoing LTD, myotomy and Dor fundoplication was 16.7 ± 10.2 mmHg, while the LESPs of 3 patients undergoing only LTD were 26 mmHg, 18 mmHg and 21 mmHg, respectively. In 4 cases experiencing LTD, myotomy and Dor fundoplication, the gastro-oesophageal reflux occurred during the sleep stage. LTD constitutes a safe and valid approach for ED patients with severe symptoms. As not all patients with large ED have oesophageal disorders, according to manometric and endoscopic results, surgeons can categorise and decide whether or not myotomy and antireflux surgery after LTD will be conducted.

Clinical characteristics of pulsatile tinnitus caused by sigmoid sinus diverticulum and wall dehiscence: a study of 54 patients.

PubMed

Wang, Guo-Peng; Zeng, Rong; Liu, Zhao-Hui; Liang, Xi-Hong; Xian, Jun-Fang; Wang, Zhen-Chang; Gong, Shu-Sheng

2014-01-01

CT angiography (CTA) and digital subtraction angiography (DSA) are valuable tools in imaging work-ups for the diagnosis of sigmoid sinus diverticulum (SSD) and sigmoid sinus wall dehiscence (SSWD). The development of pulsatile tinnitus (PT) resulting from SSD and SSWD may be associated with the dominance of venous systems. Our goal was to evaluate the clinical characteristics of PT caused by SSD and SSWD. This was a retrospective chart review undertaken in a tertiary academic referral center. Fifty-four patients with PT due to SSD and SSWD were recruited. Hospital files of these patients were assessed. Data included medical history, physical examinations, auxiliary examinations, and radiographic findings of CTA and DSA. The study population comprised 51 females and 3 males. Most patients with PT caused by SSD and SSWD were middle-aged women. All had normal otoscopy results. Anomalies occurred in or adjacent to the region of the transverse-sigmoid sinus junction in 52 patients. Half of the patients (27/54) presented abnormal results of examination of blood lipids. There were 57.41% (31/54) cases with ipsilateral dominance of the venous system, 9.26% (5/54) cases with contralateral dominance, and 33.33% (18/54) cases with co-dominance of the venous system.

Large oesophageal epiphrenic diverticulum resected by transhiatal robotic-assisted approach -- case report.

PubMed

Alecu, L; Bărbulescu, M; Ursuţ, B; Braga, V; Slavu, I

2015-01-01

Epiphrenic diverticula (ED) represent about 20% of oesophageal diverticula. They are considered to be pulsion diverticula, characterized by out pouchings of the oesophageal mucosa originating in the distal 10 cm of the oesophagus and are frequently associated with spastic oesophageal dysmotility. The most frequent clinical manifestations of ED are dysphagia, regurgitations and chest pain. Only symptomatic diverticula should be treated by surgery. The surgical procedure can be performed minimally invasively by robotic approach and consists of diverticulectomy,hiatus calibration and an antireflux procedure, usually adding an esophagomiotomy as well. We present the case of 43-year-old male patient who was admitted for a four-month history of epigastric pain, pyrosis and regurgitations. Preoperative investigation shave shown an epiphrenic diverticulum 6 cm large in diameter.A robotic-assisted transhiatal diverticulectomy with a linear endostapler, hiatal calibration and a Nissen-Rossetti fundoplication were performed using a three-arm da Vinci Robotic System. Operative time was 150 min. Postoperative course was uneventful and the patient was discharged on postoperative day 9, without complications. Ten days later,he came back and was readmitted under emergency status for right chest pain, dyspnoea and fetid breath, being diagnosed with a right empyema secondary to a delayed fistula of the oesophageal suture line. A right minimal pleurotomy and pleural drainage under local anaesthesia were performed and an intravenous antibiotherapy was started with complete remission of symptomatology, the patient remaining asymptomatic after 18 months of follow-up. Robotic approach is a feasible and safe minimally invasive surgical option in the treatment of selected cases of ED. We consider transhiatal abdominal robotic approach possible in almost all cases of ED, regardless of size,thus avoiding thoracic approach and its possible major complications.The most common serious

Pathological findings in dicephalus dipus dibrachius: implications for mechanisms in two pairs of lateral conjoined twins.

PubMed

Itoh, K; Imai, Y; Obayashi, C; Hayashi, Y; Hanioka, K; Itoh, H

1993-06-01

The anatomical and pathological features of two pairs of dicephalic conjoined twins (case 1 and 2) are described. Both twins showed duplicitas lateralis representing diprosopus dipus dibrachius. There were two complete heads on two necks, one thorax, one abdomen and externally normal two arms and two legs. Case 1 showed dicephalus with anencephaly, two vertebral columns and two spinal cords, which converged from the thoracic region distally. The esophagus, stomachs and partial small intestines were duplicated, which fused at yolk sac (with Meckel's diverticulum). The heart was incompletely fused. The lungs and trachea were doubled. Two spinal cords were fused from the thoracic region caudally and showed myelomeningocele and Arnold-Chiari malformation in case 2. Two larynxes and two thracheas connected with the incompletely fused three lobes of lungs. The conjoined lungs were hypoplastic. The heart was single, showing ventral septal defect, transposition of great arteries, two cuspid aortic valves and preductal aortic coarctation. The duplicated esophagi were conjoined in Y-shape and single stomach, duodenum, intestine and colon were found. There were pairs of kidneys, adrenal glands and ureters and single female genitalia in both cases. These findings indicate that the craniocaudal paleoaxes were separated in the cranial region and converted or fused under the thoracic region like a Y-shape. Further development defects and deformations might be important factors to form malformations in these case.

Defecography by digital radiography: experience in clinical practice*

PubMed Central

Gonçalves, Amanda Nogueira de Sá; Sala, Marco Aurélio Sousa; Bruno, Rodrigo Ciotola; Xavier, José Alberto Cunha; Indiani, João Mauricio Canavezi; Martin, Marcelo Fontalvo; Bruno, Paulo Maurício Chagas; Nacif, Marcelo Souto

2016-01-01

Objective The objective of this study was to profile patients who undergo defecography, by age and gender, as well as to describe the main imaging and diagnostic findings in this population. Materials and Methods This was a retrospective, descriptive study of 39 patients, conducted between January 2012 and February 2014. The patients were evaluated in terms of age, gender, and diagnosis. They were stratified by age, and continuous variables are expressed as mean ± standard deviation. All possible quantitative defecography variables were evaluated, including rectal evacuation, perineal descent, and measures of the anal canal. Results The majority (95%) of the patients were female. Patient ages ranged from 18 to 82 years (mean age, 52 ± 13 years): 10 patients were under 40 years of age; 18 were between 40 and 60 years of age; and 11 were over 60 years of age. All 39 of the patients evaluated had abnormal radiological findings. The most prevalent diagnoses were rectocele (in 77%) and enterocele (in 38%). Less prevalent diagnoses were vaginal prolapse, uterine prolapse, and Meckel's diverticulum (in 2%, for all). Conclusion Although defecography is performed more often in women, both genders can benefit from the test. Defecography can be performed in order to detect complex disorders such as uterine and rectal prolapse, as well as to detect basic clinical conditions such as rectocele or enterocele. PMID:28100932

Defecography by digital radiography: experience in clinical practice.

PubMed

Gonçalves, Amanda Nogueira de Sá; Sala, Marco Aurélio Sousa; Bruno, Rodrigo Ciotola; Xavier, José Alberto Cunha; Indiani, João Mauricio Canavezi; Martin, Marcelo Fontalvo; Bruno, Paulo Maurício Chagas; Nacif, Marcelo Souto

2016-01-01

The objective of this study was to profile patients who undergo defecography, by age and gender, as well as to describe the main imaging and diagnostic findings in this population. This was a retrospective, descriptive study of 39 patients, conducted between January 2012 and February 2014. The patients were evaluated in terms of age, gender, and diagnosis. They were stratified by age, and continuous variables are expressed as mean ± standard deviation. All possible quantitative defecography variables were evaluated, including rectal evacuation, perineal descent, and measures of the anal canal. The majority (95%) of the patients were female. Patient ages ranged from 18 to 82 years (mean age, 52 ± 13 years): 10 patients were under 40 years of age; 18 were between 40 and 60 years of age; and 11 were over 60 years of age. All 39 of the patients evaluated had abnormal radiological findings. The most prevalent diagnoses were rectocele (in 77%) and enterocele (in 38%). Less prevalent diagnoses were vaginal prolapse, uterine prolapse, and Meckel's diverticulum (in 2%, for all). Although defecography is performed more often in women, both genders can benefit from the test. Defecography can be performed in order to detect complex disorders such as uterine and rectal prolapse, as well as to detect basic clinical conditions such as rectocele or enterocele.

De novo pericentric inversion of chromosome 9 in congenital anomaly.

PubMed

Jeong, Seon-Yong; Kim, Bo-Young; Yu, Jae Eun

2010-09-01

The pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal variations and has been found in both normal populations and patients with various abnormal phenotypes and diseases. The aim of this study was to re-evaluate the clinical impact of inv(9)(p11q13). We studied the karyotypes of 431 neonates with congenital anomalies at the Pediatric Clinic in Ajou University Hospital between 2004 and 2008 and retrospectively reviewed their clinical data. Chromosomal aberrations were detected in 60 patients (13.9%). The most common type of structural abnormality was inv(9)(p11q13), found in eight patients. Clinical investigation revealed that all eight cases with inv(9)(p11q13) had various congenital anomalies including: polydactyly, club foot, microtia, deafness, asymmetric face, giant Meckel's diverticulum, duodenal diaphragm, small bowel malrotation, pulmonary stenosis, cardiomyopathy, arrhythmia, and intrauterine growth restriction. The cytogenetic analysis of parents showed that all of the cases were de novo heterozygous inv(9)(p11q13). Since our results indicate that the incidence of inv(9)(p11q13) in patients with congenital anomalies was not significantly different from the normal population, inv(9)(p11q13) does not appear to be pathogenic with regard to the congenital anomalies. Some other, to date unknown, causes of the anomalies remain to be identified.

Abdominal Hernias, Giant Colon Diverticulum, GIST, Intestinal Pneumatosis, Colon Ischemia, Cold Intussusception, Gallstone Ileus, and Foreign Bodies: Our Experience and Literature Review of Incidental Gastrointestinal MDCT Findings

PubMed Central

Gatta, G.; Rella, R.; Donatello, D.; Falco, G.; Grassi, R.

2017-01-01

Incidental gastrointestinal findings are commonly detected on MDCT exams performed for various medical indications. This review describes the radiological MDCT spectrum of appearances already present in the past literature and in today's experience of several gastrointestinal acute conditions such as abdominal hernia, giant colon diverticulum, GIST, intestinal pneumatosis, colon ischemia, cold intussusception, gallstone ileus, and foreign bodies which can require medical and surgical intervention or clinical follow-up. The clinical presentation of this illness is frequently nonspecific: abdominal pain, distension, nausea, fever, rectal bleeding, vomiting, constipation, or a palpable mass, depending on the disease. A proper differential diagnosis is essential in the assessment of treatment and in this case MDCT exam plays a central rule. We wish that this article will familiarize the radiologist in the diagnosis of this kind of incidental MDCT findings for better orientation of the therapy. PMID:28638830

Abdominal Hernias, Giant Colon Diverticulum, GIST, Intestinal Pneumatosis, Colon Ischemia, Cold Intussusception, Gallstone Ileus, and Foreign Bodies: Our Experience and Literature Review of Incidental Gastrointestinal MDCT Findings.

PubMed

Di Grezia, G; Gatta, G; Rella, R; Donatello, D; Falco, G; Grassi, R; Grassi, R

2017-01-01

Incidental gastrointestinal findings are commonly detected on MDCT exams performed for various medical indications. This review describes the radiological MDCT spectrum of appearances already present in the past literature and in today's experience of several gastrointestinal acute conditions such as abdominal hernia, giant colon diverticulum, GIST, intestinal pneumatosis, colon ischemia, cold intussusception, gallstone ileus, and foreign bodies which can require medical and surgical intervention or clinical follow-up. The clinical presentation of this illness is frequently nonspecific: abdominal pain, distension, nausea, fever, rectal bleeding, vomiting, constipation, or a palpable mass, depending on the disease. A proper differential diagnosis is essential in the assessment of treatment and in this case MDCT exam plays a central rule. We wish that this article will familiarize the radiologist in the diagnosis of this kind of incidental MDCT findings for better orientation of the therapy.

Influence of periampullary diverticulum on the occurrence of pancreaticobiliary diseases and outcomes of endoscopic retrograde cholangiopancreatography.

PubMed

Chen, Lu; Xia, Lu; Lu, Yi; Bie, Like; Gong, Biao

2017-01-01

Periampullary diverticulum (PAD) is frequently encountered in patients undergoing endoscopic retrograde cholangiopancreatography (ERCP). The aim of this study was to investigate the association of PAD with pancreaticobiliary diseases as well as the impact of PAD on the technical success of ERCP and different methods of bile duct stone extraction. A total of 1489 cases of patients with PAD were identified from 6390 patients who underwent ERCP. These patients were compared with 1500 controls without PAD in terms of biliary stone formation, technical success, and complications of ERCP. Patients with PAD had increased prevalence of bile duct stones, gallstones, and cholangitis (P<0.01). Successful cannulation rates were similar in the PAD and the control group (98.59 vs. 99.07%, P=0.225). The incidence of complications did not differ between the PAD and the control group. Successful stone removal rate of endoscopic sphincterotomy (EST) was lower in the PAD group than in the control group (83.53 vs. 94.31%, P=0.005). In patients with PAD, the rate of successful stone removal was lower in the EST group than in the endoscopic papillary balloon dilation (EPBD) and EPBD combined with limited EST (ESBD) group. The rates of complications were similar among different treatments (EST, EPBD, or ESBD) in patients with PAD. PAD is associated with bile duct stones, gallstones, and cholangitis. In addition, PAD should not be considered a barrier to a successful cannulation. Moreover, EST is less effective than EPBD and ESBD in patients with PAD, whereas EST, EPBD, and ESBD are equally safe in patients with PAD.

Gene and protein expressions of vimentin and desmin during embryonic development of the mylohyoid muscle.

PubMed

Kishi, Asuka; Yamamoto, Masahito; Kikuchi, Akihito; Iwanuma, Osamu; Watanabe, Yutaka; Ide, Yoshinobu; Abe, Shinichi

2012-09-01

Meckel's cartilage is known to be involved in formation of the prenatal mandible. However, the relationship between Meckel's cartilage and the embryonic mylohyoid muscle during growth and development has been investigated only rarely. This study examined the expression of intermediate filaments in Meckel's cartilage and the embryonic mylohyoid muscle in fetal mice during morphological development. Specimens of E12-16 ICR mice sectioned in the frontal direction were subjected to immunohistochemistry for vimentin and desmin. Hematoxylin and eosin sections showed that the immature mylohyoid muscle began to grow along Meckel's cartilage during fetal development. Weak vimentin expression was detected in the mylohyoid muscle and surrounding tissues at E12. Desmin expression was detected specifically in the mylohyoid, and strong expression was evident after E13, and increased with age. It was inferred that the mylohyoid muscle is one the tissues developing from Meckel's cartilage, the latter exerting a continuous influence on the growth of the former. In the early stage, the surrounding mesenchymal tissues expressing vimentin formed a scaffold for the developing mylohyoid muscle. Muscle attachment at E13 showed steady desmin expression, which continued until maturity. This study suggested the possibility that Meckel's cartilage has an influence not only on the mandibular bone, but also on the development of the mylohyoid muscle attached to the mandibular bone. Furthermore, it revealed a stage of the developmental process of the mylohyoid muscle in which the expression of vimentin, which is a common protein in the surrounding tissue such as muscle and bone, induces the morphological formation of the mylohyoid muscle, cooperating with the surrounding structures.

Endoscopic treatment of Zenker's diverticulum with the stag beetle knife (sb knife) - feasibility and follow-up.

PubMed

Goelder, S K; Brueckner, J; Messmann, H

2016-10-01

Flexible endoscopic treatment of symptomatic Zenker's diverticulum (ZD) is an established treatment option. This study reports the first large cohort of ZD patients treated with the stag beetle knife (sb knife, a new scissor-like device) regarding feasibility, safety, and sustainability of mucomyotomy using this technique. From August 2013 to January 2016, n = 52 patients (pts) were treated at Klinikum Augsburg, a tertiary referral center, with the sb knife junior or standard. For stability and safety, the septum is fixed with a soft overtube before intervention. Symptoms were analyzed before and at 1 and 6 months past intervention using an extensive questionnaire of dysphagia, odynophagia, regurgitation, chronic cough, state of health, and complications. The mean size of ZD was 3 cm (1-5 cm). Forty-seven out of 52 (90.4%) patients received one treatment session. The mean procedure time was 32 min (18-60 min). In 10 procedures (17%), a clip was placed at the bottom of the resection line. No major complications (e.g., perforation, mediastinitis) occurred. Five patients (9.6%) required a second treatment after a mean of 7 months (3-13) due to symptomatic recurrence. One patient was lost to further follow-up after one month with no or rare complaints. One patient had a third treatment (1.9%) without complications. During a mean follow-up of 16 months (2-31), the dysphagia score improved from 2 (1-4) prior of treatment to 1 (0-4), odynophagia, regurgitation, and chronic cough were no longer reported in the asymptomatic patients at all. Flexible endoscopic treatment of ZD with the sb knife and overtube is effective, safe, and has lasting effects with a relatively low recurrence rate.

Meckel's diverticulectomy

MedlinePlus

... Beauchamp RD, Evers BM, Mattox KL, eds. Sabiston Textbook of Surgery: The Biological Basis of Modern Surgical Practice . 20th ed. Philadelphia, PA: Elsevier; 2017:chap 49. Terhune KP, Tarpley JL. The management of diverticulosis of the small bowel. In: Cameron ...

[Perforated duodenal diverticula. Case report and treatment options].

PubMed

Guardado-Bermúdez, Fernando; Ardisson-Zamora, Fernando Josafat; Rojas-González, Juan Daniel; Medina-Benítez, Alberto; Corona-Suárez, Fernando

2013-01-01

the presence of duodenal diverticula was first described in 1710 by Chromel. Duodenal diverticulum is the second most common site of diverticula in the digestive tract. Anatomically duodenal diverticula are located in 10 to 67% in the second portion of duodenum, and its finding in most cases incidental. About 90% of patients appear asymptomatic, manifesting symptoms mostly once established complications such as: gastrointestinal bleeding and perforation. 78-years-old woman who attended our Emergency department with dyspnea, moderate epigastralgia, abdominal bloating, constipation and difficulty to pass gas; Laparotomy was performed to identify duodenal diverticulum in the third portion of the duodenum with a perforation of 5 mm in its cupula. It proceeds with diverticulectomy. The diagnosis of duodenal diverticulum as a cause of acute abdomen must be considered in our differential diagnosis in acute abdomen supported by imaging and endoscopy. The surgical management of duodenal diverticulum, in particular the resection of the diverticulum, remains as the recommendation for treatment with less morbidity and a good recovery.

The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling

PubMed Central

Barrington, Chloe L.; Katsanis, Nicholas

2017-01-01

The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or into the cilium. A key question is whether different complexes cooperate in cilia formation, and whether they participate in cilium assembly in conjunction with intraflagellar transport (IFT) proteins. To examine how ciliopathy protein complexes might function together, we have analyzed double mutants of an allele of the Meckel syndrome (MKS) complex protein MKS1 and the BBSome protein BBS4. We find that Mks1; Bbs4 double mutant mouse embryos exhibit exacerbated defects in Hedgehog (Hh) dependent patterning compared to either single mutant, and die by E14.5. Cells from double mutant embryos exhibit a defect in the trafficking of ARL13B, a ciliary membrane protein, resulting in disrupted ciliary structure and signaling. We also examined the relationship between the MKS complex and IFT proteins by analyzing double mutant between Mks1 and a hypomorphic allele of the IFTB component Ift172. Despite each single mutant surviving until around birth, Mks1; Ift172avc1 double mutants die at mid-gestation, and exhibit a dramatic failure of cilia formation. We also find that Mks1 interacts genetically with an allele of Dync2h1, the IFT retrograde motor. Thus, we have demonstrated that the MKS transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium. Moreover, the genetic interaction of Mks1 with components of IFT machinery suggests that the transition zone complex facilitates IFT to promote cilium assembly and structure. PMID:28291807

Incarcerated umbilical hernia in children.

PubMed

Chirdan, L B; Uba, A F; Kidmas, A T

2006-02-01

Umbilical hernia is common in children. Complications from umbilical hernias are thought to be rare and the natural history is spontaneous closure within 5 years. A retrospective analysis was performed of the medical records of a series of 23 children who presented with incarcerated umbilical hernias at our institution over an 8-year period. Fifty-two children with umbilical hernias were seen in the hospital over the period. Twenty-three (44.2%) had incarceration. Seventeen (32.7%) had acute incarceration while 6 (11.5%) had recurrent incarceration. There were 16 girls and 7 boys. The ages of the children with acute incarceration ranged from 3 weeks to 12 years (median 4 years), while the ages of those with recurrent incarceration ranged from 3-15 years (median 8.5 years). Incarceration occurred in hernias of more than 1.5 cm in diameter (in those whose defect size was measured). Twenty-one children (15 with acute and all six with recurrent incarceration) underwent repair of the umbilical hernia using standard methods. The parents of two children with acute incarceration declined surgery after spontaneous reduction of the hernia in one and taxis in the other. One boy had gangrenous bowel containing Meckel's diverticulum inside the sac, for which bowel resection with end-to-end anastomosis was done. Operation led to disappearance of pain in all 6 children with recurrent incarceration. Superficial wound infection occurred in one child. There was no mortality. Incarcerated umbilical hernia is not as uncommon as thought. Active observation of children with umbilical hernia is necessary to prevent morbidity from incarceration.

Intestinal volvulus: aetiology, morbidity, and mortality in Nigerian children.

PubMed

Ameh, E A; Nmadu, P T

2000-01-01

In developed countries, intestinal volvulus in children is most frequently due to malrotation. To review the experience in Nigeria, a retrospective analysis of 28 patients managed over 25 years at the Ahmadu Bello University Teaching Hospital, Zaria, Nigeria, was undertaken. There were 22 boys and 6 girls with an age range of 4 days to 14 years (median 4 years). There were equal numbers over and less than 5 years of age. Vomiting (89%) and abdominal distension (79%) were the most prominent features. Thirteen children (46%) had fever, associated with bowel gangrene in 5, while 8 (29%) presented with severe dehydration and shock. A plain abdominal radiograph was the only investigation performed, but the features were not specific for volvulus. In 11 children (39%) the volvulus was idiopathic, in 9 (32%) due to adhesions or bands, in 5 (18%) to malrotation, and in 1 each a Meckel's diverticulum, internal herniation, and ventriculoperitoneal shunt. Twenty-three patients had a small-bowel, 4 sigmoid, and 1 caecal volvulus. The bowel resection rate for gangrene was 46% (small bowel 9, sigmoid 3, caecum 1). All patients with malrotation had Ladd's procedure performed. Wound infections occurred in 10 patients (36%), complete wound dehiscence in 1, and recurrence in 1 (idiopathic terminal ileal volvulus). The mortality was 21%, mostly from overwhelming infection (2 neonates, 11-year-old, 3 >/= 5 years). Intestinal volvulus in our environment differs in aetiology from other reports. The resection rates are similar, however. This condition carries high morbidity and mortality.

Heterotopic Pancreas: Histopathologic Features, Imaging Findings, and Complications.

PubMed

Rezvani, Maryam; Menias, Christine; Sandrasegaran, Kumaresan; Olpin, Jeffrey D; Elsayes, Khaled M; Shaaban, Akram M

2017-01-01

Heterotopic pancreas is a congenital anomaly in which pancreatic tissue is anatomically separate from the main gland. The most common locations of this displacement include the upper gastrointestinal tract-specifically, the stomach, duodenum, and proximal jejunum. Less common sites are the esophagus, ileum, Meckel diverticulum, biliary tree, mesentery, and spleen. Uncomplicated heterotopic pancreas is typically asymptomatic, with the lesion being discovered incidentally during an unrelated surgery, during an imaging examination, or at autopsy. The most common computed tomographic appearance of heterotopic pancreas is that of a small oval intramural mass with microlobulated margins and an endoluminal growth pattern. The attenuation and enhancement characteristics of these lesions parallel their histologic composition. Acinus-dominant lesions demonstrate avid homogeneous enhancement after intravenous contrast material administration, whereas duct-dominant lesions are hypovascular and heterogeneous. At magnetic resonance imaging, the heterotopic pancreas is isointense to the orthotopic pancreas, with characteristic T1 hyperintensity and early avid enhancement after intravenous gadolinium-based contrast material administration. Heterotopic pancreatic tissue has a rudimentary ductal system in which an orifice is sometimes visible at imaging as a central umbilication of the lesion. Complications of heterotopic pancreas include pancreatitis, pseudocyst formation, malignant degeneration, gastrointestinal bleeding, bowel obstruction, and intussusception. Certain complications may be erroneously diagnosed as malignancy. Paraduodenal pancreatitis is thought to be due to cystic degeneration of heterotopic pancreatic tissue in the medial wall of the duodenum. Recognizing the characteristic imaging features of heterotopic pancreas aids in differentiating it from cancer and thus in avoiding unnecessary surgery. © RSNA, 2017.

Prececal amino acid digestibility of soybean cake in fast- and slow-growing broiler chickens.

PubMed

Ganzer, C; Siegert, W; Kluth, H; Bennewitz, J; Rodehutscord, M

2017-08-01

The objective of the present study was to determine whether there are differences in prececal amino acid digestibility between commonly used slow- and fast-growing broiler strains when the regression approach is applied. ISA J-275 and Ross 308 were selected as common representatives of slow- and fast-growing broiler strains, respectively. The experimental diets with soybean cake at levels of 0, 100, and 200 g/kg were offered for ad libitum consumption between 22 and 29 d post-hatch. Titanium dioxide was used as an indigestible marker. Each treatment was tested with six pens comprising 10 birds each. Digesta samples were collected on a pen basis from the distal two-thirds of the intestine section between Meckel's diverticulum and 2 cm anterior to the ileocecal-colonic junction. The prececal amino acid digestibility of soybean cake was calculated by linear regression simultaneously for both strains. There was no significant interaction between broiler strain and inclusion level of soybean cake with respect to the prececal CP and amino acid digestibility of complete diets; there was a significant strain effect for 5 out of the 16 measured amino acids. The prececal CP and amino acid digestibility of soybean cake did not differ significantly between strains and was numerically almost identical. The results of the present study provide evidence of the transferability between broiler strains of prececal amino acid digestibility data, determined using the regression approach, thus improving the accuracy of diet formulation without drawbacks. © 2017 Poultry Science Association Inc.

Endovascular Repair of a Right-Sided Descending Thoracic Aortic Aneurysm Associated with a Right Aortic Arch and a Left Subclavian Artery Arising from a Kommerell's Diverticulum

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

Klonaris, Chris, E-mail: chris_klonaris@yahoo.com; Avgerinos, Efthimios D.; Katsargyris, Athanasios

2009-07-15

This case report describes the endovascular repair of a right-sided descending thoracic aortic aneurysm associated with a right aortic arch and an aberrant left subclavian artery. A 76-year-old male with multiple comorbidities was incidentally found to have a right-sided descending thoracic aortic aneurysm with a maximum diameter of 6.2 cm. Additionally, there was a right aortic arch with a retroesophageal segment and separate arch branches arising in the following order: left common carotid artery, right common carotid artery, right subclavian artery, and left subclavian artery that was aberrant, arising from a Kommerrell's diverticulum. The aneurysm was successfully excluded by deploymentmore » of a Zenith TX1 36 x 32 x 20-mm stent-graft using wire traction technique via the left femoral and right brachial arteries in order to deal with two severe aortic angulations. At 18-month follow-up the patient was doing well, with aneurysm sac shrinkage to 5.9 cm and no signs of endoleak or migration. Endovascular repair of right-sided descending thoracic aortic aneurysms with a right arch and aberrant left subclavian artery is feasible, safe, and effective. In such rare configurations, which demand considerably increased technical dexterity and center experience, endovascular repair emerges as an attractive therapeutic option.« less

Dual pathology in a patient with right lower quadrant pain.

PubMed

Deutsch, Gary B; Sathyanarayana, Sandeep Anantha; Nicastro, Jeffrey; Molmenti, Ernesto; Coppa, Gene; Rubach, Eugene; Friedman, Barak

2012-09-01

Meckel diverticula are remnants of the omphalomesenteric duct. They have 2% incidence in the general population, are usually asymptomatic, and tend to be diagnosed incidentally. The generally held principle had been that asymptomatic cases do not require resection, as exemplified by a 2008 systematic review of over 200 studies. However, a recent series reported an increased risk of malignancies, and recommended mandatory resection. We present a case of Meckel diverticulitis with concurrent infiltrative appendiceal carcinoid in a patient with right lower quadrant pain.

Cesarean section scar diverticulum evaluation by saline contrast-enhanced magnetic resonance imaging: The relationship between variable parameters and longer menstrual bleeding.

PubMed

Yao, Min; Wang, Wenjing; Zhou, Jieru; Sun, Minghua; Zhu, Jialiang; Chen, Pin; Wang, Xipeng

2017-04-01

This study was conducted to determine a more accurate imaging method for the diagnosis of cesarean scar diverticulum (CSD) and to identify the parameters of CSD strongly associated with prolonged menstrual bleeding. We enrolled 282 women with a history of cesarean section (CS) who presented with prolonged menstrual bleeding between January 2012 and May 2015. Transvaginal ultrasound, general magnetic resonance imaging (MRI) and contrast-enhanced MRI were used to diagnose CSD. Five parameters were compared among the imaging modalities: length, width, depth and thickness of the remaining muscular layer (TRM) of CSD and the depth/TRM ratio. Correlation between the five parameters and days of menstrual bleeding was performed. Finally, multivariate analysis was used to determine the parameters associated with menstrual bleeding longer than 14 days. Contrast-enhanced MRI yielded greater length or width or thinner TRM of CSD compared with MRI and transvaginal ultrasound. CSD size did not significantly differ between women who had undergone one and two CSs. Correlation analysis revealed that CSD (P = 0.038) and TRM (P = 0.003) lengths were significantly associated with days of menstrual bleeding. Longer than 14 days of bleeding was defined by cut-off values of 2.15 mm for TRM and 13.85 mm for length. TRM and number of CSs were strongly associated with menstrual bleeding longer than 14 days. CE-MRI is a relatively accurate and efficient imaging method for the diagnosis of CSD. A cut-off value of TRM of 2.15 mm is the most important parameter associated with menstrual bleeding longer than 14 days. © 2017 Japan Society of Obstetrics and Gynecology.

Dual Pathology in a Patient with Right Lower Quadrant Pain

PubMed Central

Deutsch, Gary B.; Sathyanarayana, Sandeep Anantha; Nicastro, Jeffrey; Molmenti, Ernesto; Coppa, Gene; Rubach, Eugene; Friedman, Barak

2012-01-01

Meckel diverticula are remnants of the omphalomesenteric duct. They have 2% incidence in the general population, are usually asymptomatic, and tend to be diagnosed incidentally. The generally held principle had been that asymptomatic cases do not require resection, as exemplified by a 2008 systematic review of over 200 studies. However, a recent series reported an increased risk of malignancies, and recommended mandatory resection. We present a case of Meckel diverticulitis with concurrent infiltrative appendiceal carcinoid in a patient with right lower quadrant pain. PMID:23997560

Small bowel obstruction in the virgin abdomen: time to challenge surgical dogma with evidence.

PubMed

Ng, Yvonne Ying-Ru; Ngu, James Chi-Yong; Wong, Andrew Siang-Yih

2018-01-01

Although adhesions account for more than 70% of small bowel obstruction (SBO), they are thought to be less likely aetiologies in patients without previous abdominal surgery. Expedient surgery has historically been advocated as prudent management in these patients. Emerging evidence appears to challenge such a dogmatic approach. A retrospective analysis was performed in all SBO patients with a virgin abdomen admitted between January 2012 and August 2014. Patients with obstruction secondary to abdominal wall hernias were excluded. Patient demographics, clinical presentation, management strategy and pathology involved were reviewed. A total of 72 patients were included in the study. The majority of patients were males (66.7%), with a median age of 58 years (range: 23-101). Abdominal pain (97%) and vomiting (86%) were the most common presentations while abdominal distention (60%) and constipation (25%) were reported less frequently. Adhesions accounted for the underlying cause in 44 (62%) patients. Other aetiologies included gallstone ileus (n = 5), phytobezoar (n = 5), intussusception (n = 4), internal herniation (n = 4), newly diagnosed small bowel tumour (n = 3), mesenteric volvulus (n = 3), stricture (n = 3) and Meckel's diverticulum (n = 1). Twenty-nine (40%) patients were successfully managed conservatively while the remaining 43 (60%) underwent surgery. The intraoperative findings were in concordance with the preoperative computed tomography scan in 76% of cases. Adhesions remain prevalent despite the absence of previous abdominal surgery. Non-operative management is feasible for SBO in a virgin abdomen. Computed tomography scan can be a useful adjunct in discerning patients who may be treated non-operatively by elucidating the underlying cause of obstruction. © 2016 Royal Australasian College of Surgeons.

An Endoscopic Nasomediastinal Approach to a Mediastinal Abscess Developing after Zenker's Diverticulectomy

PubMed Central

Gundogdu, Kemal; Eminler, Ahmet Tarik; Parlak, Erkan; Cakmak, Guner

2017-01-01

Zenker's diverticulum is the most frequent symptomatic diverticulum of the esophagus, but the prevalence is <0.1%. The optimal treatment is surgery. Here, we present a nasomediastinal drainage approach to treatment of a mediastinal abscess, developing in the late postoperative period and attributable to leakage from the staple line. PMID:28831318

Sand dollar: a weight belt for the juvenile.

PubMed

Chia, F S

1973-07-06

Juvenile sand dollars (Dendraster excentricus) selectively ingest heavy sand grains from the substrate and store them in an intestinal diverticulum which may function as a weight belt, assisting the young animal to remain in the shifting sandy environment. The sand disappears from the diverticulum when the animal reaches the length of 30 millimeters.

Fasting for haemostasis in children with gastrointestinal bleeding.

PubMed

Luo, Shuang-Hong; Guo, Qin; Liu, Guan J; Wan, Chaomin

2016-05-19

Gastrointestinal bleeding refers to loss of blood from any site of the digestive tract. In paediatric clinical practice, it is usually a complaint of children attending the emergency department as a symptom of diseases such as ulcers, gastric or oesophageal varices, gastritis, Mallory-Weiss tears, anorectal fissures, allergic colitis, infectious colitis, intussusception, Henoch-Schonlein purpura, and Meckel's diverticulum; it also occurs with high incidence in critically ill children hospitalised in intensive care units and is caused by stress-induced gastropathy. No matter what the cause of gastrointestinal bleeding, fasting is believed to be necessary due to the fear that eating may affect haemostasis or aggravate bleeding. To assess the effects and safety of fasting for haemostasis in gastrointestinal bleeding in children. We searched EBM Reviews - the Cochrane Central Register of Controlled Trials (CENTRAL) (May 2016), Ovid MEDLINE(R) (1946 to 3 May 2016), EMBASE (1980 to 2016 Week 18), Chinese Biomedical Database (CBM) (1978 to 3 May 2016), China National Knowledge Infrastructure (CNKI) (1979 to 3 May 2016), VIP Database (1989 to 4 May 2016) and Wanfang Data (1990 to 4 May 2016). We used no restrictions on language or study setting and limited searches in CNKI and Wanfang Data to the medical field. Randomised controlled trials (RCTs) or quasi-RCTs in children with gastrointestinal bleeding that compared fasting with feeding. Two review authors independently screened the literature search results, and there were no disagreements. We identified no RCTs or quasi-RCTs that compared the effects and safety of fasting with feeding for haemostasis in children with gastrointestinal bleeding. No study fulfilled the criteria for considering studies for our review. There is currently no information available from RCTs or quasi-RCTs to support or refute the use of fasting for haemostasis in children with gastrointestinal bleeding.

Pattern and distribution of colonic diverticulosis: analysis of 2877 barium enemas in Thailand.

PubMed

Lohsiriwat, Varut; Suthikeeree, Wanwarang

2013-12-14

To determine the pattern and distribution of colonic diverticulosis in Thai adults. A review of the computerized radiology database for double contrast barium enema (DCBE) in Thai adults was performed at the Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. Incomplete studies and DCBE examinations performed in non-Thai individuals were excluded. The pattern and distribution of colonic diverticulosis detected during DCBE studies from June 2009 to October 2011 were determined. The occurrence of solitary cecal diverticulum, rectal diverticulum and giant diverticulum were reported. Factors influencing the presence of colonic diverticulosis were evaluated. A total of 2877 suitable DCBE examinations were retrospectively reviewed. The mean age of patients was 59.8 ± 14.7 years. Of these patients, 1778 (61.8%) were female and 700 (24.3%) were asymptomatic. Colonic diverticulosis was identified in 820 patients (28.5%). Right-sided diverticulosis (641 cases; 22.3%) was more frequently reported than left-sided diverticulosis (383 cases; 13.3%). Pancolonic diverticulosis was found in 98 cases (3.4%). The occurrence of solitary cecal diverticulum, rectal diverticulum and giant diverticulum were 1.5% (42 cases), 0.4% (12 cases), and 0.03% (1 case), respectively. There was no significant difference in the overall occurrence of colonic diverticulosis between male and female patients (28.3% vs 28.6%, P = 0.85). DCBE examinations performed in patients with some gastrointestinal symptoms revealed the frequent occurrence of colonic diverticulosis compared with those performed in asymptomatic individuals (29.5% vs 25.3%, P = 0.03). Change in bowel habit was strongly associated with the presence of diverticulosis (a relative risk of 1.39; P = 0.005). The presence of diverticulosis was not correlated with age in symptomatic patients or asymptomatic individuals (P > 0.05). Colonic diverticulosis was identified in 28.5% of DCBE examinations in Thai adults. There

Vesicoscopic Treatment of Symptomatic Congenital Bladder Diverticula in Children: A 7-Year Experience.

PubMed

Marte, Antonio; Cavaiuolo, Silvia; Esposito, Maria; Pintozzi, Lucia

2016-06-01

Introduction The objective of this study was to report on the use of vesicoscopy in the treatment of symptomatic congenital bladder diverticula (CBD) in children. Material and Methods In this study, 16 males, aged 4 to 12 years (median age, 6.25 years), were treated for symptomatic CBD; 3 patients presented double diverticulum and 13 presented single diverticulum. The presenting symptoms were recurrent urinary tract infection, hematuria, lower abdominal pain, and voiding dysfunctions as urgency, frequency alone, or in association. A first midline 5-mm trocar was introduced for a 0-degree telescope at the dome of the bladder, and two left and right 3- or 5-mm trocars were inserted through the anterolateral wall. The bladder was then insufflated with carbon dioxide to 10 to 12 mm Hg pressure. The diverticula were inverted into the bladder and the mucosa around the neck was circumcised by using scissors and hook. The defect was sutured and the bladder was drained. Vesicoureteral reflux (VUR) of third grade or higher was treated endoscopically. Results Mean operative time was 90 minutes for procedures. At 6-month follow-up, ultrasound and voiding cystourethrogram (VCUG) showed the disappearance of the diverticulum in 15 out of the 16 patients. The patient, with huge double diverticulum and fourth grade right VUR, presented recurrence of a small left diverticulum. Patients with voiding disorders presented a gradual improvement of their urgency. VUR disappeared at VCUG in all patients. Conclusion Vesicoscopic diverticulectomy resulted a safe and effective procedure and can be considered a valid alternative to the open or laparoscopic procedures. In our opinion, routine use of vesicoscopy could become the gold standard for the treatment of CBD in children. Georg Thieme Verlag KG Stuttgart · New York.

UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

ClinicalTrials.gov

2017-09-15

Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

Meckel’s diverticulitis causing small bowel obstruction by a novel mechanism

PubMed Central

Shelat, Vishalkumar G.; Kelvin Li, Kaiwen; Rao, Anil; Sze Guan, Tay

2011-01-01

Meckel’s diverticulum occurs in 2% of the general population and majority of patients remain asymptomatic. Gastrointestinal bleeding is the most common presentation in the paediatric population. While asymptomatic and incidentally found Meckel’s diverticulum may be left alone, surgery is essential for treating a symptomatic patient. Despite advances in imaging and technology, pre-operative diagnosis is often difficult. We present a first report of an unusual mechanism of small bowel obstruction due to Meckel’s diverticulitis in a paediatric patient. The diagnosis was only apparent at laparotomy. PMID:24765312

[The treatment of inguinofemoral hernias with laparoscopic herniorraphy. Our experience of 1210 transabdominal preperitoneal (TAPP) reconstructions].

PubMed

Bátorfi, József

2005-12-01

In 11 years (1994-2005) our team has carried out 1210 transabdominal preperitoneal herniorrhaphies in 964 patients. We operated monolateral hernias in 602 (62.4%) patients, bilateral hernias in 246 (25.5%), among these occult contralateral hernias in 96 (10%), femoral hernias 20 (2%). 28% (N=269) of all operations were performed on because of recurrent hernias. In 6 selected patients incarcerated hernias were operated on by surgeons with sufficient experience. In 16 patients with concomitant abdominal disease we performed synchronous laparoscopic operations (15 cholecystectomies, 1 Meckel diverticulum resection). The average operation time was 112 minutes (52-195), in monolateral hernias during the learning curve, this was reduced to 57 minutes (40-125). The only conversion (0.08%) was necessary because of bowel injury, two early reoperations (0.16%) happened because of bowel perforation caused by electrocoagulation (laparotomy) and because of clipped nervus cutaneus femoris (clip laparoscopically removed). Sero-haematoma (86 = 7.1%) which is the most common mild complication did not occur after the introduction of routine pre-peritoneal drainage. Hydrocele, which developed in the remnant of the sac was operated on in 3 (0.25%) patients. This complication develops when the hernia sac could not be lifted laparoscopically into the abdominal cavity. This complication was eliminated when we removed the scrotal sac through a small skin incision at the end of the operation. Mean hospital stay was 3 (2-7) days, the mean return to normal activity 7-10 days. The majority (N=9) of 11 (0.9%) recurrences occurred in the learning curve. Our experience which is similar to what can be found in numerous other articles showed, that LH is beneficial (short hospitalisation, early return to normal activity, more favourable operability in bilateral and recurrent hernias, early recognition of contralateral occult hernias, performance of synchronous laparoscopic operations, small

Esophageal diverticula and cancer.

PubMed

Herbella, F A M; Dubecz, A; Patti, M G

2012-02-01

Esophageal diverticula are rare. The association of cancer and diverticula has been described. Some authors adopt a conservative non-surgical approach in selected patients with diverticula whereas others treat the symptoms by diverticulopexy or myotomy only, leaving the diverticulum in situ. However, the risk of malignant degeneration should be may be taken in account if the diverticulum is not resected. The correct evaluation of the possible risk factors for malignancy may help in the decision making process. We performed a literature review of esophageal diverticula and cancer. The incidence of cancer in a diverticulum is 0.3-7, 1.8, and 0.6% for pharyngoesophageal, midesophageal, and epiphrenic diverticula, respectively. Symptoms may mimic those of the diverticulum or underlying motor disorder. Progressive dysphagia, unintentional weight loss, the presence of blood in the regurgitated material, regurgitation of peaces of the tumor, odynophagia, melena, hemathemesis, and hemoptysis are key symptoms. Risk factors for malignancy are old age, male gender, long-standing history, and larger diverticula. A carcinoma may develop in treated diverticula, even after resection. Outcomes are usually quoted as dismal because of a delayed diagnosis but several cases of superficial carcinoma have been described. The treatment follows the same principals as the therapy for esophageal cancer; however, diverticulectomy is enough in cases of superficial carcinomas. Patients must be carefully evaluated before therapy and a long-term follow-up is advisable. © 2011 Copyright the Authors. Journal compilation © 2011, Wiley Periodicals, Inc. and the International Society for Diseases of the Esophagus.

Missed diagnosis of anterior urethral valve complicated with a foreign body: a cause for concern.

PubMed

Nayyar, Rishi; Chavda, Sundeep; Singh, Prabhjot; Gupta, Narmada P

2011-01-01

Anterior urethral valve (AUV) is a long known but rare anomaly, which is occasionally encountered in boys with obstructive uropathy. We present a case of AUV with a diverticulum which was misdiagnosed at other center as neurogenic bladder resulting in chronic renal failure. The case was further complicated by breakage of tip of the catheter used for clean intermittent catheterization (CIC) in the diverticulum presenting as a foreign body in the urethra. This article highlights the frequently missed diagnosis of AUV by most practitioners wrongly labeling it as neurogenic bladder, leading to improper management and renal failure in young boys.

Closure of the middle ear with special reference to the development of the tegmen tympani of the temporal bone

PubMed Central

Rodríguez-Vázquez, José Francisco; Murakami, Gen; Verdugo-López, Samuel; Abe, Shin-ichi; Fujimiya, Mineko

2011-01-01

Closure of the middle ear is believed to be closely related to the evolutionary development of the mammalian jaw. However, few comprehensive descriptions are available on fetal development. We examined paraffin-embedded specimens of 20 mid-term human fetuses at 8–25 weeks of ovulation age (crown-rump length or CRL, 38–220 mm). After 9 weeks, the tympanic bone and the squamous part of the temporal bone, each of which was cranial or caudal to Meckel's cartilage, grew to close the lateral part of the tympanosquamosal fissure. At the same time, the cartilaginous tegmen tympani appeared independently of the petrous part of the temporal bone and resulted in the petrosquamosal fissure. Subsequently, the medial part of the tympanosquamosal fissure was closed by the descent of a cartilaginous inferior process of the tegmen tympani. When Meckel's cartilage changed into the sphenomandibular ligament and the anterior ligament of the malleus, the inferior process of the tegmen tympani interposed between the tympanic bone and the squamous part of the temporal bone, forming the petrotympanic fissure for the chorda tympani nerve and the discomalleolar ligament. Therefore, we hypothesize that, in accordance with the regression of Meckel's cartilage, the rapidly growing temporomandibular joint provided mechanical stress that accelerated the growth and descent of the inferior process of the tegmen tympani via the discomalleolar ligament. The usual diagram showing bony fissures around the tegmen tympani may overestimate the role of the tympanic bone in the fetal middle-ear closure. PMID:21477146

Successful ablation of a right atrium-axillary ventricular accessory pathway associated with Wolff-Parkinson-White syndrome.

PubMed

Yuan, Yuan; Long, Deyong; Dong, Jianzeng; Tao, Ling; Ma, Changsheng

2017-12-01

We report a case of a patient with right axillary ventricular. Similar congenital anomaly of the right atrium was reported as "right appendage diverticulum or right atrial diverticulum." However, this independent chamber has its own annulus, synchronizes with the right ventricular, and generates large ventricular potential. Under the guidance of the CARTO mapping system (Biosense Webster, Diamond Bar, CA, USA), a right atrioventricular accessory pathway associated with type B Wolff-Parkinson-White syndrome was ablated successfully. This pathway was close to the annulus of the axillary ventricular. The patient remained free of arrhythmia at 1-year follow-up. © 2017 Wiley Periodicals, Inc.

A neurotropic route for Maize mosaic virus (Rhabdoviridae) in its planthopper vector Peregrinus maidis.

PubMed

Ammar, El-Desouky; Hogenhout, Saskia A

2008-01-01

To investigate the dissemination route of Maize mosaic virus (MMV, Rhabdoviridae) in its planthopper vector Peregrinus maidis (Delphacidae, Hemiptera), temporal and spatial distribution of MMV was studied by immunofluorescence confocal laser scanning microscopy following 1-week acquisition feeding of planthoppers on infected plants. MMV was detected 1-week post first access to diseased plants (padp) in the midgut and anterior diverticulum, 2-week padp in the esophagus, nerves, nerve ganglia and visceral muscles, and 3-week padp in hemocytes, tracheae, salivary glands and other tissues. MMV is neurotropic in P. maidis; infection was more extensive in the nervous system compared to other tissues. A significantly higher proportion of planthoppers had infected midguts (28.1%) compared to those with infected salivary glands (20.4%) or to those that transmitted MMV (15.7%), suggesting the occurrence of midgut and salivary gland barriers to MMV transmission in P. maidis. In this planthopper, the esophagus and anterior diverticulum are located between the compound ganglionic mass and the salivary glands. We postulate that MMV may overcome transmission barriers in P. maidis by proceeding from the midgut to the anterior diverticulum and esophagus, and from these to the salivary glands via the nervous system: a neurotropic route similar to that of some vertebrate-infecting rhabdoviruses.

Endoscopic treatment of tracheocele in pediatric patients.

PubMed

Berlucchi, Marco; Pedruzzi, Barbara; Padoan, Rita; Nassif, Nader; Stefini, Stefania

2010-01-01

Acquired tracheal pouch known also as tracheocele is a rare air-filled diverticulum of tracheal pars membranacea. This disease may be due to esophageal or tracheal surgery, orotracheal intubation, or increased intralunimal pressure through a weak area of tracheal wall. When symptomatic and medical therapy is insufficient, this disorder must be treated surgically. Several surgical methods ranging from open neck or thoracic surgery to endoscopic managements have been reported. We report the case history of a 7-year-old boy affected by recurrent pneumonia due to tracheal pouch. The patient underwent successful brushing of tracheocele plus fibrin glue application by rigid tracheobroncoscopy. Furthermore, particular emphasis on endoscopic treatments of tracheal diverticulum is also presented. Copyright 2010 Elsevier Inc. All rights reserved.

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

PubMed

Brancati, Francesco; Iannicelli, Miriam; Travaglini, Lorena; Mazzotta, Annalisa; Bertini, Enrico; Boltshauser, Eugen; D'Arrigo, Stefano; Emma, Francesco; Fazzi, Elisa; Gallizzi, Romina; Gentile, Mattia; Loncarevic, Damir; Mejaski-Bosnjak, Vlatka; Pantaleoni, Chiara; Rigoli, Luciana; Salpietro, Carmelo D; Signorini, Sabrina; Stringini, Gilda Rita; Verloes, Alain; Zabloka, Dominika; Dallapiccola, Bruno; Gleeson, Joseph G; Valente, Enza Maria

2009-02-01

The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the "molar tooth sign", a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs. (c) 2008 Wiley-Liss, Inc.

MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement

PubMed Central

Brancati, Francesco; Iannicelli, Miriam; Travaglini, Lorena; Mazzotta, Annalisa; Bertini, Enrico; Boltshauser, Eugen; D’Arrigo, Stefano; Emma, Francesco; Fazzi, Elisa; Gallizzi, Romina; Gentile, Mattia; Loncarevic, Damir; Mejaski-Bosnjak, Vlatka; Pantaleoni, Chiara; Rigoli, Luciana; Salpietro, Carmelo D.; Signorini, Sabrina; Stringini, Gilda Rita; Verloes, Alain; Zabloka, Dominika; Dallapiccola, Bruno; Gleeson, Joseph G.; Valente, Enza Maria

2008-01-01

The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the “molar tooth sign”, a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs. PMID:19058225

On the effect specificity of accessory gland products transferred by the love-dart of land snails.

PubMed

Lodi, Monica; Koene, Joris M

2016-05-13

Sexual selection favours the evolution of male bioactive substances transferred during mating to enhance male reproductive success by affecting female physiology. These effects are mainly well documented for separate-sexed species. In simultaneous hermaphrodites, one of the most peculiar examples of transfer of such substances is via stabbing a so-called love-dart in land snails. This calcareous stylet delivers mucous products produced by accessory glands into the mate's haemolymph. In Cornu aspersum, this mucus temporarily causes two changes in the recipient. First, the spermatophore uptake into the spermatophore-receiving organ, called diverticulum, is probably favoured by contractions of this organ. Second, the amount of stored sperm increases by contractions of the copulatory canal, which close off the tract leading to the sperm digesting organ. However, it has yet to be determined whether these effects are similar across species, which would imply a common strategy of the dart in increasing male reproductive success. We performed a cross-reactivity test to compare the in vitro response of the diverticulum and copulatory canal of C. aspersum (Helicidae) to its own and other species' mucus (seven helicids and one bradybaenid). We found that the contractions in the diverticulum were only induced by dart mucus of certain species, while the copulatory canal responded equally to all but one species' mucus tested. In addition, we report a newly-discovered effect causing the shortening of the diverticulum, which is also only caused by dart mucus of certain species. The advantage seems to be a distance reduction to the sperm storage organ. All these findings are the first to shed light on the evolution of the different functions of accessory gland products in dart-bearing species. These functions may be achieved via common physiological changes caused by the substances contained in the dart mucus, since the responses evoked were similar across species' mucus. Moreover

Laparoscopic repair of epiphrenic diverticulum.

PubMed

Zaninotto, Giovanni; Parise, Paolo; Salvador, Renato; Costantini, Mario; Zanatta, Lisa; Rella, Antonio; Ancona, Ermanno

2012-01-01

Epiphrenic diverticula (ED) are a rare clinical entity characterized by out-pouchings of the esophageal mucosa originating in the distal third of the esophagus, close to the diaphragm. The proportion of diverticula reported symptomatic enough to warrant surgery is extremely variable, ranging from 0% to 40%. The natural history of ED is still almost unknown and the most intriguing question concerns whether or not they all need surgical treatment. From 1993 to 2010 35 patients underwent surgery at our institution. Eleven patients were treated via a thoracotomic approach alone and were excluded from present study. The remaining 24 patients formed our study population. Seventeen patients (48.6%) underwent surgery via a purely laparoscopic approach, and received a diverticulectomy + myotomy + antireflux procedure. Seven patients (23%), with ED positioned well above inferior pulmonary vein, were treated via a combined laparoscopic-thoracotomic approach: they all underwent diverticulectomy + myotomy + an antireflux procedure. Mortality was nil. The overall morbidity rate was 25%. A suture leakage occurred in 4 patients (16.6%) and they were all conservatively treated. Patients' symptom scores decreased from a median of 15 to 0 (P = 0.0005). Laparoscopic surgery for ED is effective, but given the not negligible incidence of complications such suture-line leakage, should be considered only in symptomatic patients or in event of huge diverticula. A tailored combined laparoscopic-thoracotomic approach may be useful in case of ED located high in mediastinum or with large neck. Copyright © 2012 Elsevier Inc. All rights reserved.

The Utility of Recurrent Laryngeal Nerve Monitoring During Open Pharyngeal Diverticula Procedures.

PubMed

Coughlan, Carolyn A; Verma, Sunil P

2016-08-01

The recurrent laryngeal nerve is at risk of injury during open pharyngeal diverticula operations. The utility of recurrent laryngeal nerve (RLN) monitoring during these procedures was investigated. A retrospective chart review was performed of 8 open pharyngeal diverticulectomies completed between 2009 and 2014. Intraoperative RLN monitoring took place during all operations. Open pharyngectomy and myotomy was successfully performed in all cases. In two cases the RLN was encountered outside of its normal course. The identity of the nerve was confirmed with electrical stimulation and normal EMG response. Vocal fold motion was preserved in all cases. Use of intraoperative nerve monitoring in pharyngeal diverticula procedures may be beneficial, especially during open operations for Killian-Jamieson diverticulum (KJD) and large Zenker diverticulum (ZD), where the RLN is typically encountered outside of its normal course. © The Author(s) 2016.

Skeletogenesis in the swell shark Cephaloscyllium ventriosum.

PubMed

Eames, B Frank; Allen, Nancy; Young, Jonathan; Kaplan, Angelo; Helms, Jill A; Schneider, Richard A

2007-05-01

Extant chondrichthyans possess a predominantly cartilaginous skeleton, even though primitive chondrichthyans produced bone. To gain insights into this peculiar skeletal evolution, and in particular to evaluate the extent to which chondrichthyan skeletogenesis retains features of an osteogenic programme, we performed a histological, histochemical and immunohistochemical analysis of the entire embryonic skeleton during development of the swell shark Cephaloscyllium ventriosum. Specifically, we compared staining properties among various mineralizing tissues, including neural arches of the vertebrae, dermal tissues supporting oral denticles and Meckel's cartilage of the lower jaw. Patterns of mineralization were predicted by spatially restricted alkaline phosphatase activity earlier in development. Regarding evidence for an osteogenic programme in extant sharks, a mineralized tissue in the perichondrium of C. ventriosum neural arches, and to a lesser extent a tissue supporting the oral denticle, displayed numerous properties of bone. Although we uncovered many differences between tissues in Meckel's cartilage and neural arches of C. ventriosum, both elements impart distinct tissue characteristics to the perichondral region. Considering the evolution of osteogenic processes, shark skeletogenesis may illuminate the transition from perichondrium to periosteum, which is a major bone-forming tissue during the process of endochondral ossification.

Skeletogenesis in the swell shark Cephaloscyllium ventriosum

PubMed Central

Eames, B Frank; Allen, Nancy; Young, Jonathan; Kaplan, Angelo; Helms, Jill A; Schneider, Richard A

2007-01-01

Extant chondrichthyans possess a predominantly cartilaginous skeleton, even though primitive chondrichthyans produced bone. To gain insights into this peculiar skeletal evolution, and in particular to evaluate the extent to which chondrichthyan skeletogenesis retains features of an osteogenic programme, we performed a histological, histochemical and immunohistochemical analysis of the entire embryonic skeleton during development of the swell shark Cephaloscyllium ventriosum. Specifically, we compared staining properties among various mineralizing tissues, including neural arches of the vertebrae, dermal tissues supporting oral denticles and Meckel's cartilage of the lower jaw. Patterns of mineralization were predicted by spatially restricted alkaline phosphatase activity earlier in development. Regarding evidence for an osteogenic programme in extant sharks, a mineralized tissue in the perichondrium of C. ventriosum neural arches, and to a lesser extent a tissue supporting the oral denticle, displayed numerous properties of bone. Although we uncovered many differences between tissues in Meckel's cartilage and neural arches of C. ventriosum, both elements impart distinct tissue characteristics to the perichondral region. Considering the evolution of osteogenic processes, shark skeletogenesis may illuminate the transition from perichondrium to periosteum, which is a major bone-forming tissue during the process of endochondral ossification. PMID:17451531

Modeling data for pancreatitis in presence of a duodenal diverticula using logistic regression

NASA Astrophysics Data System (ADS)

Dineva, S.; Prodanova, K.; Mlachkova, D.

2013-12-01

The presence of a periampullary duodenal diverticulum (PDD) is often observed during upper digestive tract barium meal studies and endoscopic retrograde cholangiopancreatography (ERCP). A few papers reported that the diverticulum had something to do with the incidence of pancreatitis. The aim of this study is to investigate if the presence of duodenal diverticula predisposes to the development of a pancreatic disease. A total 3966 patients who had undergone ERCP were studied retrospectively. They were divided into 2 groups-with and without PDD. Patients with a duodenal diverticula had a higher rate of acute pancreatitis. The duodenal diverticula is a risk factor for acute idiopathic pancreatitis. A multiple logistic regression to obtain adjusted estimate of odds and to identify if a PDD is a predictor of acute or chronic pancreatitis was performed. The software package STATISTICA 10.0 was used for analyzing the real data.

Cholecystectomy for Prevention of Recurrence after Endoscopic Clearance of Bile Duct Stones in Korea.

PubMed

Song, Myung Eun; Chung, Moon Jae; Lee, Dong Jun; Oh, Tak Geun; Park, Jeong Youp; Bang, Seungmin; Park, Seung Woo; Song, Si Young; Chung, Jae Bock

2016-01-01

Cholecystectomy in patients with an intact gallbladder after endoscopic removal of stones from the common bile duct (CBD) remains controversial. We conducted a case-control study to determine the risk of recurrent CBD stones and the benefit of cholecystectomy for prevention of recurrence after endoscopic removal of stones from the CBD in Korean patients. A total of 317 patients who underwent endoscopic CBD stone extraction between 2006 and 2012 were included. Possible risk factors for the recurrence of CBD stones including previous cholecystectomy history, bile duct diameter, stone size, number of stones, stone composition, and the presence of a periampullary diverticulum were analyzed. The mean duration of follow-up after CBD stone extraction was 25.4±22.0 months. A CBD diameter of 15 mm or larger [odds ratio (OR), 1.930; 95% confidence interval (CI), 1.098 to 3.391; p=0.022] and the presence of a periampullary diverticulum (OR, 1.859; 95% CI, 1.014 to 3.408; p=0.045) were independent predictive factors for CBD stone recurrence. Seventeen patients (26.6%) in the recurrence group underwent elective cholecystectomy soon after endoscopic extraction of CBD stones, compared to 88 (34.8%) in the non-recurrence group; the difference was not statistically significant (p=0.212). A CBD diameter of 15 mm or larger and the presence of a periampullary diverticulum were found to be potential predictive factors for recurrence after endoscopic extraction of CBD stones. Elective cholecystectomy after clearance of CBD stones did not reduce the incidence of recurrent CBD stones in Korean patients.

A Comparative Study of Outcomes for Endoscopic Diverticulotomy versus External Diverticulectomy

PubMed Central

Shahawy, Sarrah; Janisiewicz, Agnieszka M.; Annino, Don; Shapiro, Jo

2014-01-01

Objectives Current literature on the treatment of Zenker's Diverticulum (ZD) favors the use of various endoscopic procedures over external surgical techniques for patients, arguing that endoscopic approaches reduce intraoperative time and anesthesia, length of hospital stay, and days until oral diet is restarted. However, such techniques often have higher symptomatic recurrence rates and require further interventions. Because of our experience with both endoscopic diverticulotomy (ENDO) and external diverticulectomy (EXT) using the GIA-stapler, we sought to compare these two procedures in terms of in-hospital parameters, complications, return to normal diet, and rates of symptom recurrence. Study Design Case series with chart review. Setting Academic tertiary care hospital. Subjects Patients with Zenker's diverticulum who underwent surgical repair. Methods Retrospective analysis of 67 patients seen at Brigham and Women's Hospital between 1990 and 2012 with Zenker's diverticulum who underwent either an endoscopic Zenker's procedure (36) or an external stapler-assisted diverticulectomy with cricopharyngeal myotomy (31). Results Although the external stapler-assisted procedure for ZD does carry a longer intra-operative time and a slightly longer hospital stay than the endoscopic approach, it provides similar days until initiation of an oral diet and a similar incidence of post-operative complications. Further, it is superior to the endoscopic approach when one considers its much lower rate of symptomatic recurrence and need for revision procedures. Conclusion We argue that the external stapler-assisted diverticulectomy with cricopharyngeal myotomy should be considered as a viable treatment in patients who need definitive, single-session treatment for ZD, especially to prevent life-threatening aspiration pneumonia. PMID:24990870

Respiratory problems in children with esophageal atresia and tracheoesophageal fistula.

PubMed

Porcaro, Federica; Valfré, Laura; Aufiero, Lelia Rotondi; Dall'Oglio, Luigi; De Angelis, Paola; Villani, Alberto; Bagolan, Pietro; Bottero, Sergio; Cutrera, Renato

2017-09-05

Children with congenital esophageal atresia (EA) and tracheoesophageal fistula (TEF) have chronic respiratory symptoms including recurrent pneumonia, wheezing and persistent cough. The aim of this study is to describe the clinical findings of a large group of children with EA and TEF surgically corrected and the instrumental investigation to which they have undergone in order to better understand the patient's needs and harmonize the care. A retrospective data collection was performed on 105 children with EA and TEF followed at Department of Pediatric Medicine of Bambino Gesù Children's Hospital (Rome, Italy) between 2010 and 2015. 69/105 (66%) children reported lower respiratory symptoms with a mean age onset of 2.2 ± 2.5 years and only 63/69 (91%) performed specialist assessment at Respiratory Unit. Recurrent pneumonia (33%) and wheezing (31%) were the most reported symptoms. The first respiratory evaluation was performed after surgically correction of gastroesophageal reflux (GER) at mean age of 3.9 ± 4.2 years. Twenty nine patients have undergone to chest CT with contrast enhancement detecting localized atelectasis (41%), residual tracheal diverticulum (34%), bronchiectasis (31%), tracheal vascular compression (21%), tracheomalacia (17%) and esophageal diverticulum (14%). Fifty three patients have undergone to airways endoscopy detecting tracheomalacia (66%), residual tracheal diverticulum (26%), recurrent tracheoesophageal fistula (19%) and vocal cord paralysis (11%). Our study confirms that respiratory symptoms often complicate EA and TEF; their persistence despite medical and surgical treatment of GER means that other etiological hypothesis must be examined and that a complete respiratory diagnostic work up must be considered.

Malaria

DTIC Science & Technology

2011-06-01

terms tertian and quartan describe the usual periodicity of the fever . General Considerations In the mid-19th century Meckel and others discovered...cyclic fever . Fever peaks around the time of schizogony and is more severe in naive patients than in those who have had previous infections. Malarial...majority undergo schizogony at approximately the same time and fever periodicity is determined by the length of the asexual cycle (Table 10.3

Appendiceal diverticulum associated with chronic appendicitis

PubMed Central

Zubieta-O’Farrill, Gregorio; Guerra-Mora, José Raúl; Gudiño-Chávez, Andrés; Gonzalez-Alvarado, Carlos; Cornejo-López, Gilberto Bernabe; Villanueva-Sáenz, Eduardo

2014-01-01

INTRODUCTION Appendiceal diverticulosis is a rare entity, with a global incidence between 0.004% and 2.1% of all appendectomies. It has been related with an elevated risk of perforation in comparison to acute appendicitis, as well as an increased risk for synchronic appendicular cancer in 48% of the cases, and colonic cancer in 43%. The incidence of chronic appendicitis has been reported in 1.5% of all appendicitis cases. PRESENTATION OF CASE We present a 73-year-old female, with no relevant familial history, who presented due to a four-month-long oppressive, moderate pain in the lower right abdominal quadrant without irradiation or any other accompanying symptoms. DISCUSSION The documented incidence of appendiceal diverticula and chronic appendicitis by themselves is low; therefore the presence of both entities at the same time is extremely rare. CONCLUSION We present a case in which both diagnoses concurred in the same patient. The relevance of this case relies on the importance of the adequate knowledge of these pathologies, so we can approach them correctly. Although it does not represent an absolute surgical emergency, appendectomy represents the first therapeutic option. PMID:25460447

Robotic-assisted laparoscopic management of a caliceal diverticular calculus.

PubMed

Torricelli, Fabio Cesar Miranda; Batista, Lucas T; Colombo, Jose Roberto; Coelho, Rafael Ferreira

2014-08-21

To report the first case of robotic-assisted laparoscopic management of a symptomatic caliceal diverticular calculus and review the literature on laparoscopic treatment for this condition. A 33-year-old obese woman with a 2×1 cm calculus within an anterior caliceal diverticulum located in the middle pole of the left kidney was referred to our service. She had already undergone two flexible ureterorenoscopies without success. We considered that a percutaneous approach would be very challenging due to stone location, thus we elected to perform a robotic-assisted laparoscopic procedure for stone removal and diverticulum fulguration. The procedure was uneventfully performed with no intraoperative or postoperative complications. The patient was discharged from the hospital on the second postoperative day and after 1.5 years of follow-up she is asymptomatic with no recurrence. The robotic-assisted laparoscopic approach to caliceal diverticular calculi is feasible and safe, providing one more option for treatment of stones in challenging locations. 2014 BMJ Publishing Group Ltd.

Robotic-assisted laparoscopic management of a caliceal diverticular calculus

PubMed Central

Torricelli, Fabio Cesar Miranda; Batista, Lucas T; Colombo, Jose Roberto; Coelho, Rafael Ferreira

2014-01-01

Purpose To report the first case of robotic-assisted laparoscopic management of a symptomatic caliceal diverticular calculus and review the literature on laparoscopic treatment for this condition. Case report A 33-year-old obese woman with a 2×1 cm calculus within an anterior caliceal diverticulum located in the middle pole of the left kidney was referred to our service. She had already undergone two flexible ureterorenoscopies without success. We considered that a percutaneous approach would be very challenging due to stone location, thus we elected to perform a robotic-assisted laparoscopic procedure for stone removal and diverticulum fulguration. The procedure was uneventfully performed with no intraoperative or postoperative complications. The patient was discharged from the hospital on the second postoperative day and after 1.5 years of follow-up she is asymptomatic with no recurrence. Conclusions The robotic-assisted laparoscopic approach to caliceal diverticular calculi is feasible and safe, providing one more option for treatment of stones in challenging locations. PMID:25188925

Calyceal diverticula in children: imaging findings and presentations.

PubMed

Ochoa Santiago, Y; Sangüesa Nebot, C; Aliaga, S Picó; Serrano Durbá, A; López, P Ortega

2018-04-26

A calyceal diverticulum consists of a cystic eventration in the renal parenchyma that is lined with transitional cell epithelium with a narrow infundibular connection with the calyces or pelvis of the renal collector system; thus, the term pyelocalyceal diverticulum would be more accurate. Very rare in pediatric patients, calyceal diverticula can be symptomatic and require treatment. Calyceal diverticula are underdiagnosed because they can be mistaken for simple renal cysts on ultrasonography. To determine the approach to their follow-up and management, the diagnosis must be confirmed by excretory-phase computed tomography (CT) or magnetic resonance imaging (MRI). This article aims to show the different ways that calyceal diverticula can present in pediatric patients; it emphasizes the ultrasonographic findings that enable the lesion to be suspected and the definitive findings that confirm the diagnosis on CT and MRI. It also discusses the differential diagnosis with other cystic kidney lesions and their treatment. Copyright © 2018 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

Prostatectomy

PubMed Central

Martin, K. Whittle

1973-01-01

This paper deals with the indications for prostatectomy; the differential diagnosis of the symptomatology of bladder neck obstruction; and the factors influencing the choice of operation. Some points in the technique of prostatectomy are mentioned. Finally, the method of prostatectomy when obstruction is complicated by stone, diverticulum, or growth is discussed. PMID:4713964

Vascular ring presenting as dysphagia in an adult woman: a case report.

PubMed

Powell, B L

2017-01-01

A 48-year-old woman was seen in a surgical outpatient clinic with a 2 year history of progressive dysphagia with occasional regurgitation, partially controlled with a proton pump inhibitor. Primary investigations of pH testing and gastroscopy were normal, although a barium swallow study revealed significant hold-up at the aortic arch impression and a posterior right-sided oesophageal impression suggestive of a right-sided aortic arch. A follow-up computed tomography angiogram discovered a vascular ring encircling the trachea and oesophagus, formed by a right-sided aortic arch with aberrant aortic branches, and a Kommerell's diverticulum. It was deemed that the patient's symptoms were related to this vascular ring. The patient underwent stage-one surgery - an extra-anatomic bypass of the double aortic arch and right subclavian artery - and 4 months later a stent graft insertion over the origin of the diverticulum with the aim of complete symptomatic relief. This case presents a common symptom familiar to any clinician (dysphagia), which has been caused by a rare pathology. It is even more unusual that this should present itself in adulthood.

Esophageal diverticula in Parma wallabies (Macropus parma).

PubMed

Okeson, Danelle M; Esterline, Meredith L; Coke, Rob L

2009-03-01

Four adult, wild caught Parma wallabies (Macropus parma) presented with intermittent, postprandial, midcervical swellings. Esophageal diverticula were discovered in the four animals. One of two wallabies was managed successfully with surgery. A third animal died of other causes. The fourth animal died with possible complications from the diverticulum. This is the first published report of esophageal diverticula in macropods.

Pathologic Outcomes following Urethral Diverticulectomy in Women

PubMed Central

Laudano, Melissa A.; Jamzadeh, Asha E.; Lee, Richard K.; Robinson, Brian D.; Tyagi, Renuka; Kaplan, Steven A.; Te, Alexis E.

2014-01-01

Purpose. Although most urethral diverticula in women are benign, there is a subset of patients who develop malignant changes. Limited studies report the pathologic findings associated with this relatively rare entity. We describe the clinicopathologic findings of women who underwent urethral diverticulectomy. Methods. A consecutive series of 29 women who underwent surgical resection of a urethral diverticulum were identified between 1992 and 2013. Clinical and radiographic data was collected by retrospective review of patient medical records. All pathological slides were rereviewed by a single urologic pathologist. Results. Of the 14 women with clinical data, 9 (64%) presented with urgency, 7 (50%) with urinary frequency, 3 (21%) with urinary incontinence, and 3 (21%) with dysuria. Mean diverticular size was 2.3 (±1.4) cm. Although one patient (3%) had invasive adenocarcinoma on final pathology, the remaining 28 cases (97%) demonstrated benign features. The most common findings were inflammation (55%) and nephrogenic adenoma (21%). Conclusions. Although most urethral diverticula in women are benign, there is a subset of patients who develop malignancy in association with the diverticulum. In this series, 97% of cases had a benign histology. These findings are important when counseling patients regarding treatment options. PMID:24860605

Pathologic Outcomes following Urethral Diverticulectomy in Women.

PubMed

Laudano, Melissa A; Jamzadeh, Asha E; Dunphy, Claire; Lee, Richard K; Robinson, Brian D; Tyagi, Renuka; Kaplan, Steven A; Te, Alexis E; Chughtai, Bilal

2014-01-01

Purpose. Although most urethral diverticula in women are benign, there is a subset of patients who develop malignant changes. Limited studies report the pathologic findings associated with this relatively rare entity. We describe the clinicopathologic findings of women who underwent urethral diverticulectomy. Methods. A consecutive series of 29 women who underwent surgical resection of a urethral diverticulum were identified between 1992 and 2013. Clinical and radiographic data was collected by retrospective review of patient medical records. All pathological slides were rereviewed by a single urologic pathologist. Results. Of the 14 women with clinical data, 9 (64%) presented with urgency, 7 (50%) with urinary frequency, 3 (21%) with urinary incontinence, and 3 (21%) with dysuria. Mean diverticular size was 2.3 (±1.4) cm. Although one patient (3%) had invasive adenocarcinoma on final pathology, the remaining 28 cases (97%) demonstrated benign features. The most common findings were inflammation (55%) and nephrogenic adenoma (21%). Conclusions. Although most urethral diverticula in women are benign, there is a subset of patients who develop malignancy in association with the diverticulum. In this series, 97% of cases had a benign histology. These findings are important when counseling patients regarding treatment options.

Perforated Solitary Diverticulitis of the Ascending Colon

DTIC Science & Technology

2005-06-01

postoperative day 6. DISCUSSION Diverticuli of the right colon exist in approximately 1% to 5% of patients with diverticular disease .1-3 They are...ORIGINAL REPORTS Perforated Solitary Diverticulitis of the Ascending Colon CPT David S. Kauvar, MC, USA, MAJ, Jayson Aydelotte, MC, USA, and MAJ...Michael Harnisch, MC, USA Department of Surgery, Brooke Army Medical Center, Fort Sam Houston, Texas KEY WORDS: solitary colon diverticulum

Common Pediatric Urological Disorders

PubMed Central

Robson, Wm. Lane M.; Leung, Alexander K.C.; Boag, Graham S.

1991-01-01

The clinical and radiological presentations of 12 pediatric urological disorders are described. The described disorders include pyelonephritis, vesicoureteral reflux, ureteropelvic obstruction, ureterovesical obstruction, ectopic ureterocele, posterior urethral valves, multicystic dysplastic kidney, polycystic kidney disease, ectopic kidney, staghorn calculi, urethral diverticulum, and urethral meatal stenosis. ImagesFigure 1-2Figure 3Figure 3Figure 4Figure 5Figure 6-7Figure 8-9Figure 10Figure 11-12 PMID:21229068

Right cervical aortic arch with aberrant left subclavian artery.

PubMed

Tjang, Yanto S; Aramendi, José I; Crespo, Alejandro; Hamzeh, Gadah; Voces, Roberto; Rodríguez, Miguel A

2008-08-01

The combination of right cervical aortic arch, aberrant retroesophageal left subclavian artery originating from a Kommerell's diverticulum, and a ligamentum arteriosum, constitutes a rare form of vascular ring. Two patients aged 21 days and 54 years, who were diagnosed by multislice 3-dimensional computed tomography and magnetic resonance imaging, underwent surgical division of a vascular ring. The adult required resection of a Kommerell's aneurysm and subclavian artery reimplantation.

A fully coupled bolus-esophageal-gastric model for esophageal emptying based on the immersed boundary method

NASA Astrophysics Data System (ADS)

Kou, Wenjun; Pandolfino, John E.; Kahrilas, Peter J.; Patankar, Neelesh A.

2016-11-01

In this work, we develop a fully coupled bolus-esophageal-gastric model to study esophageal emptying based on the immersed boundary method. The model includes an esophageal segment, an ellipsoid-shaped stomach, and a bolus. It can easily handle the passive and active function of the lower esophageal sphincter (LES). Two groups of case studies are presented. The first group is about the influence from tissue anisotropy. Simulation shows that the weaker (or more compliant) part suffers from a higher wall shear stress and higher pressure load when the bolus is filled in and emptied from the LES segment. This implies a degradation cycle in which a weaker tissue becomes much weaker due to an increased load, a possible pathway to the esophageal lower diverticulum. The second group is about bulge formation resulting from asymmetric anatomy and a compliant LES. In particular, we find a right bulge tends to develop for a compliant LES. The bulge is most pronounced with a highest stiffness of the gastric wall. This implies that the competition between the LES stiffness and gastric wall stiffness might be another factor related to the esophageal lower diverticulum. The support of Grant R01 DK56033 and R01 DK079902 from NIH is gratefully acknowledged.

Mechanism of internal fertilization in Pegea socia (Tunicata, Thaliacea), a salp with a solid oviduct.

PubMed

Holland, L Z; Miller, R L

1994-03-01

The ovary of the salp Pegea socia (Bosc, 1802) is located at the end of an atrial diverticulum. The ovary consists of a single oocyte encased in a layer of follicle cells and is connected to the atrial epithelium by an oviduct. Transmission electron microscopy shows that the oocyte lacks a vitelline layer, cortical granules, and yolk granules and that the oviduct lacks a continuous lumen. What previous authors thought was a lumen is a line of dense intercellular junctions running down the center of the oviduct. The sperm nucleus in this species, as in other salps, is elongate. The tubular mitochondrion spirals about the sperm nucleus giving it a corkscrew-shape appearance. Sperm reach the ovary when the oocyte is still at the germinal vesicle stage. Many sperm swim up the atrial diverticulum and burrow through the cells of the atrial epithelium, oviduct, and follicular epithelium. Thus oviduct shortening, which occurs when the oocyte is in the meiotic divisions, is evidently unrelated to sperm moving up the oviduct. All previous authors, who argued either that a continuous lumen is necessary for sperm to move up the oviduct or that sperm bypass the oviduct, were incorrect. © 1994 Wiley-Liss, Inc. Copyright © 1994 Wiley-Liss, Inc.

Pre-percutaneous nephrolithotomy opacification for caliceal diverticular calculi.

PubMed

Matlaga, Brian R; Kim, Samuel C; Watkins, Stephanie L; Munch, Larry C; Chan, Brandon W; Lingeman, James E

2006-03-01

Caliceal diverticula harbor calculi in as many as 50% of cases. Such stones rarely pass spontaneously. Various stone-removal techniques have been used, with percutaneous techniques generally having the best results. In patients with nonradiopaque stones or in whom the diverticulum does not opacify when contrast is instilled retrograde or by intravenous urogram, contrast can be instilled directly into the cavity with CT or ultrasound guidance. Three such cases are described, with good results.

Retrospective Analysis of Ultrasound-guided Flexible Ureteroscopy in the Management of Calyceal Diverticular Calculi.

PubMed

Zhang, Ji-Qing; Wang, Yong; Zhang, Jun-Hui; Zhang, Xiao-Dong; Xing, Nian-Zeng

2016-09-05

Percutaneous nephrolithotomy (PCNL) is the most widely recommended treatment for calyceal diverticular calculi, providing excellent stone-free results. However, its invasiveness is not negligible considering its major complication rates. Flexible ureteroscopy (FURS) is currently used to treat calyceal diverticula. However, the greatest drawback of FURS is locating the diverticulum since its neck is narrow and concealed. In such a case, the FURS procedure must be converted to PCNL. The aim of this study was to evaluate ultrasound-guided flexible ureteroscopy (UFURS) identifying diverticulum and the management of calyceal diverticular calculi. A retrospective analysis was conducted on 24 patients who had calyceal diverticular calculi. In all 12 patients in the UFURS group, direct FURS failed to find evidence of calyceal diverticula but were confirmed with imaging. The other 12 patients in the PCNL group received PCNL plus fulguration of the diverticular walls. Puncture of calyceal diverticulum was successful in all 12 UFURS patients. Two patients in this group had postoperative residual calculi and two patients developed fever. In the PCNL group, percutaneous renal access and lithotomy were successful in all 12 patients. One patient in this group had residual calculi, one had perirenal hematoma, and two patients developed fever. No significant difference was found in the operating time (UFURS vs. PCNL, 91.8 ± 24.2 vs. 86.3 ± 18.7 min), stone-free rate (UFURS vs. PCNL, 9/12 vs. 10/12), and rate of successful lithotripsy (UFURS vs. PCNL, 10/12 vs. 11/12) between the two groups (all P> 0.05). Postoperative pain scores in the FURS group were significantly lower than that in the PCNL group (2.7 ± 1.2 vs. 6.2 ± 1.5, P< 0.05). Hospital stay in the UFURS group was significantly shorter than that in the PCNL group (3.4 ± 0.8 vs. 5.4 ± 1.0 days, P< 0.05). All patients were symptom-free following surgery (UFURS vs. PCNL, 10/10 vs. 12/12). Ultrasound-guided puncture

Minimally invasive surgery for esophageal motility disorders.

PubMed

Balaji, Nagammapudur S; Peters, Jeffrey H

2002-08-01

Laparoscopic Heller myotomy has emerged as an excellent primary treatment for patients with dysphagia secondary to achalasia. A laparoscopic rather than thoracoscopic approach has stood the test of time. An antireflux procedure combined with the myotomy is crucial to the maintenance of the antireflux barrier. Thoracoscopic long myotomy offers effective relief for spastic disorders of the esophagus. Endoscopic stapled diverticulotomy is a safe and effective procedure for Zenker's diverticulum and has potential advantages over the open approach.

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.

PubMed

Takenouchi, Toshiki; Kuchikata, Tomu; Yoshihashi, Hiroshi; Fujiwara, Mineko; Uehara, Tomoko; Miyama, Sahoko; Yamada, Shiro; Kosaki, Kenjiro

2017-05-01

Among more than 5,000 human monogenic disorders with known causative genes, transposable element insertion of a Long Interspersed Nuclear Element 1 (LINE1, L1) is known as the mechanistic basis in only 13 genetic conditions. Meckel-Gruber syndrome is a rare ciliopathy characterized by occipital encephalocele and cystic kidney disease. Here, we document a boy with occipital encephalocele, post-axial polydactyly, and multicystic renal disease. A medical exome analysis detected a heterozygous frameshift mutation, c.4582_4583delCG p.(Arg1528Serfs*17) in CC2D2A in the maternally derived allele. The further use of a dedicated bioinformatics algorithm for detecting retrotransposon insertions led to the detection of an L1 insertion affecting exon 7 in the paternally derived allele. The complete sequencing and sequence homology analysis of the inserted L1 element showed that the L1 element was classified as L1HS (L1 human specific) and that the element had intact open reading frames in the two L1-encoded proteins. This observation ranks Meckel-Gruber syndrome as only the 14th disorder to be caused by an L1 insertion among more than 5,000 known human genetic disorders. Although a transposable element detection algorithm is not included in the current best-practice next-generation sequencing analysis, the present observation illustrates the utility of such an algorithm, which would require modest computational time and resources. Whether the seemingly infrequent recognition of L1 insertion in the pathogenesis of human genetic diseases might simply reflect a lack of appropriate detection methods remains to be seen. © 2017 Wiley Periodicals, Inc.

An unusual presentation of a chronic ingested foreign body in an adult.

PubMed

Kropf, Jesse A H; Jeanmonod, Rebecca; Yen, David M

2013-01-01

Sore throat is a common complaint for patients presenting to the emergency department (ED). Although most are caused by viral and bacterial sources, an ingested foreign body must be considered in the right patient population. Retained foreign bodies occur in both children and adults. In children, the objects are usually non-food items, whereas adults are more likely to have impacted food boluses. Typically, patients present acutely, and chronic foreign bodies are rare, especially in adults. We use an unusual presentation of a retained foreign body in a previously undiagnosed Zenker diverticulum to review ingested foreign bodies and Zenker diverticuli. We report the case of an 82-year-old woman who presented to the ED with a chief complaint of 12 h of worsening pharyngitis and odynophagia. She reported she had a capsule endoscopy performed approximately 4 months earlier during which the device had malfunctioned and no images were transmitted from beyond the esophagus. A soft tissue film of the neck showed the endoscopic capsule retained at the level of the clavicles. Esophagogastroduodenoscopy demonstrated a previously undiagnosed Zenker diverticulum containing the endoscope capsule. This was subsequently removed with laryngoscopy. Complaints related to sore throat commonly have a simple explanation. Recurrent symptoms and a physical examination inconsistent with common explanations require the differential to be broadened and less common causes considered. Copyright © 2013 Elsevier Inc. All rights reserved.

A transpubic approach for reconstructive surgery of genitourinary injuries and congenital malformations.

PubMed

Kaliciński, Z H; Bokwa, T; Perdzyński, W; Zarzycka-Szcerbowska, E; Harnik, M; Rybałko, W

1997-09-01

Four children were operated on by the transpubic approach for injury to the vagina or urethra and to correct malformations within the pelvis minor. One boy had posttraumatic stricture of the urethra, and a girl presented with disruption of the urethra and vagina. One of two boys who had congenital malformations was treated for epispadias and incontinence; the other for a large urethral diverticulum caused by anal atresia. Total reconstruction was achieved, and no complications of symphysis restoration were observed.

Mouse models of ciliopathies: the state of the art

PubMed Central

Norris, Dominic P.; Grimes, Daniel T.

2012-01-01

The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS) and Alström syndrome (ALS). Reflecting the manifold requirements for cilia in signalling, sensation and motility, different ciliopathies exhibit common elements. The mouse has been used widely as a model organism for the study of ciliopathies. Although many mutant alleles have proved lethal, continued investigations have led to the development of better models. Here, we review current mouse models of a core set of ciliopathies, their utility and future prospects. PMID:22566558

Anterior Urethral Valve: A Rare But an Important Cause of Infravesical Urinary Tract Obstruction.

PubMed

Parmar, Jitendra P; Mohan, Chander; Vora, Maulik P

2016-01-01

Urethral valves are infravesical congenital anomalies, with the posterior urethral valve (PUV) being the most prevalent one. Anterior urethral valve (AUV) is a rare but a well-known congenital anomaly. AUV and diverticula can cause severe obstruction, whose repercussions on the proximal urinary system can be important. Few cases have been described; both separately and in association with urethral diverticulum. The presentation of such a rare but important case led us to a report with highlighting its classic imaging features. We present a case report of AUV with lower urinary tract symptoms in a 6-year-old boy with complaints of a poor stream of urine and strain to void. Unique findings were seen on Retrograde Urethrography (RGU) and Voiding Cysto-Urethrography (VCUG), i.e. linear incomplete filling defect in the penile urethra and associated mild dilatation of the anterior urethra ending in a smooth bulge. On cysto-urethroscopy the anterior urethral valve was confirmed and fulguration was done. Congenital anterior urethral valve is an uncommon but important cause of infravesical lower urinary tract obstruction that is more common in male urethra. It can occur as an isolated AUV or in association with diverticulum and VATER anomalies. Early diagnosis and management of this rare condition is very important to prevent further damage, infection and vesicoureteral reflux. AUV may be associated with other congenital anomalies of the urinary system; therefore a full evaluation of the urinary system is essential.

Development of the jugular bulb: a radiologic study.

PubMed

Friedmann, David R; Eubig, Jan; McGill, Megan; Babb, James S; Pramanik, Bidyut K; Lalwani, Anil K

2011-10-01

Jugular bulb (JB) abnormalities such as JB diverticulum and high-riding JBs of the temporal bone can erode into the inner ear and present with hearing loss, vestibular disturbance, and pulsatile tinnitus. Their cause and potential to progress remain to be studied. This comprehensive radiologic study investigates the postnatal development of the venous system from transverse sinus to internal jugular vein (IJV). Academic medical center. PATIENTS, INTERVENTION, MAIN OUTCOME MEASURE: Measurements of the transverse and sigmoid sinus, the JB, IJV, and carotid artery were made from computed tomographic scans of the neck with intravenous contrast in infants (n = 5), children (n = 13), adults (n = 35), and the elderly (n = 15). Jugular bulbs were not detected in patients younger than 2 years, enlarged in adulthood, and remained stable in the elderly. The venous system was larger in men than in women. From transverse sinus to IJV, the greatest variation in size was just proximal and distal to the JB with greater symmetry observed as blood returned to the heart. Right-sided venous dominance was most common occurring in 70% to 80% of cases. The JB is a dynamic structure that forms after 2 years, and its size stabilizes in adulthood. The determinants in its exact position and size are multifactorial and may be related to blood flow. Improved understanding of this structure's development may help to better understand the cause of the high-riding JB and JB diverticulum, both of which may cause clinical symptoms.

Accessory atrioventricular pathways refractory to catheter ablation: role of percutaneous epicardial approach.

PubMed

Scanavacca, Maurício Ibrahim; Sternick, Eduardo Back; Pisani, Cristiano; Lara, Sissy; Hardy, Carina; d'Ávila, André; Correa, Frederico Soares; Darrieux, Francisco; Hachul, Denise; Marcial, Miguel Barbero; Sosa, Eduardo A

2015-02-01

Epicardial mapping and ablation of accessory pathways through a subxiphoid approach can be an alternative when endocardial or epicardial transvenous mapping has failed. We reviewed acute and long-term follow-up of 21 patients (14 males) referred for percutaneous epicardial accessory pathway ablation. There was a median of 2 previous failed procedures. All patients were highly symptomatic, 8 had atrial fibrillation (3 with cardiac arrest) and 13 had frequent symptomatic episodes of atrioventricular reentrant tachycardia. Six patients (28.5%) had a successful epicardial ablation. Five patients (23.8%) underwent a successful repeated endocardial mapping, and ablation after epicardial mapping yielded no early activation site. Epicardial mapping was helpful in guiding endocardial ablation in 2 patients (9.5%), showing that the earliest activation was simultaneous at the epicardium and endocardium. Four patients (19%) underwent successful open-chest surgery after failing epicardial/endocardial ablation. Two patients (9.5%) remained controlled under antiarrhythmic drugs after unsuccessful endocardial/epicardial ablation. Two patients had a coronary sinus diverticulum and one a right atrium to right ventricle diverticulum. Three patients acquired postablation coronary sinus stenosis. There was no major complication related to pericardial access. Percutaneous epicardial approach is an alternative when conventional endocardial or transvenous epicardial ablation fails in the elimination of the accessory pathway. A new attempt by endocardial approach was successful in a significant number of patients. Open-chest surgery may be required in symptomatic cases refractory to endocardial-epicardial approach. © 2014 American Heart Association, Inc.

[Congenital bladder diverticula and vesicoureteral reflux].

PubMed

Garat, José María; Angerri, Oriol; Caffaratti, Jorge; Moscatiello, Pietro

2008-03-01

To analyze our series of primary congenital diverticula (PCD) and their association with vesicoureteral reflux. We have taken care of 23 children with PCD. Eleven of them had big diverticula (> 2 cm) and twelve small. In the first group, 4 children had vesicoureteral reflux and 5 in the second group. In group A, ureteral reimplantation was performed at the time of diverticulum excision. Nor diverticula neither refluxes were operated in group B. We analyze separately results in both groups. Group A: Patients were operated including diverticulum excision. There were not recurrences except in one case with Ehler-Danlos Syndrome. No reimplanted ureter showed postoperative reflux. Nevertheless, one case with multiple bladder diverticula without reflux presented reflux after the excision of several diverticula without reimplantation. Group B: Small diverticula did not undergo surgery Spontaneous outcome of reflux was similar to that of the general population without diverticula. Bladder diverticula are frequently associated with vesicoureteral reflux. The presence of reflux is not an absolute condition for surgical or endoscopic treatment. When diverticula are big in size (Group A) the indication for surgery comes from recurrent infection or voiding disorders, not from reflux. If they undergo surgery, ureteral reimplantation is performed in the case they had reflux or for technical reasons like bladder wall weakness. When diverticula are small (Group B) the presence of reflux does not condition treatment, being the rate of spontaneous resolution similar to the general population.

A Giant Urethral Calculus.

PubMed

Sigdel, G; Agarwal, A; Keshaw, B W

2014-01-01

Urethral calculi are rare forms of urolithiasis. Majority of the calculi are migratory from urinary bladder or upper urinary tract. Primary urethral calculi usually occur in presence of urethral stricture or diverticulum. In this article we report a case of a giant posterior urethral calculus measuring 7x3x2 cm in a 47 years old male. Patient presented with acute retention of urine which was preceded by burning micturition and dribbling of urine for one week. The calculus was pushed in to the bladder through the cystoscope and was removed by suprapubic cystolithotomy.

Successful Conservative Treatment of a Kommerell Aneurysm Associated With Right-Sided Aortic Arch.

PubMed

Lococo, Filippo; Tusini, Nicola; Brandi, Loris; Leuzzi, Giovanni; Galeone, Carla; Paci, Massimiliano; Rapicetta, Cristian

2016-08-01

Right-side aortic arch is a rare congenital aortic anomaly occurring in 0.05% to 0.1% of the general population. Approximately, half of these cases may be associated with an aberrant left subclavian artery and occasionally with aneurysmatic change at its origin known as Kommerell diverticulum or aneurysm (KA). Herein we report a challenging case of a right-side aortic arch associated with KA incidentally observed in a 73-year-old male with metastatic lung cancer. After careful multidisciplinary discussion, a conservative strategy of care was successfully adopted. © The Author(s) 2016.

Nutritional characteristics of camelina meal for 3-week-old broiler chickens.

PubMed

Pekel, A Y; Kim, J I; Chapple, C; Adeola, O

2015-03-01

Limited information on nutritional characteristics on camelina meal for broiler chickens limits its use in diets of broiler chickens. The objectives of this study were to determine the ileal digestible energy (IDE), ME, and MEn contents of 2 different camelina meal (CM1 and CM2) samples for 3-wk-old broiler chickens using the regression method and to determine glucosinolate compounds in the camelina meal samples. The CM1 and CM2 were incorporated into a corn-soybean meal-based reference diet at 3 levels (0, 100, or 200 g/kg) by replacing the energy-yielding ingredients. These 5 diets (reference diet, and 100 and 200 g/kg camelina meal from each of CM1 and CM2) were fed to 320 male Ross 708 broilers from d 21 to 28 post hatching with 8 birds per cage and 8 replicates per treatment in a randomized complete block design. Excreta were collected twice daily from d 25 to 28, and jejunal digesta and ileal digesta from the Meckel's diverticulum to approximately 2 cm proximal to the ileocecal junction were collected on d 28. The total glucosinolate content for CM1 and CM2 were 24.2 and 22.7 nmol/mg, respectively. Jejunal digesta viscosity was linearly increased (P<0.001) from 2.2 to 4.1 cP with increasing dietary camelina meal levels. There were linear effects (P<0.001) of CM1 and CM2 substitution on final weight, weight gain, feed intake, and G:F. The inclusion of CM1 and CM2 linearly decreased (P<0.001) ileal digestibility of DM, energy, and IDE. The supplementation of CM1 and CM2 linearly decreased (P<0.001) the retention of DM, nitrogen, and energy; ME, and MEn. By regressing the CM1 and CM2-associated IDE intake in kilocalories against kilograms of CM1 and CM2 intake, the IDE regression equation was Y=-10+1,429×CM1+2,125×CM2, r2=0.55, which indicates that IDE values were 1,429 kcal/kg of DM for CM1 and 2,125 kcal/kg of DM for CM2. The ME regression was Y=5+882×CM1+925×CM2, r2=0.54, which implies ME values of 882 kcal/kg of DM for CM1 and 925 kcal/kg of DM for CM2

Pneumovesicoscopic treatment of congenital bladder diverticula in children: our experience.

PubMed

Marte, Antonio; Sabatino, Maria D; Borrelli, Micaela; Del Balzo, Biago; Nino, Fabiano; Prezioso, Maurizio; Parmeggiani, Pio

2010-02-01

In this article, we report our experience with diverticulectomies of symptomatic congenital bladder diverticula in children, which was performed by utilizing pneumovesicoscopy. Six boys, 4-8 years of age (mean, 5.6) underwent pneumovesicoscopic diverticulectomy at our institution from June 2007 to June 2008. There were 4 right-single diverticula and 2 double-left diverticula. Under cystoscopic control, after the cystopexy to the abdominal wall, a midline 5-mm trocar for a 0-degree telescope and two lateral 3-mm reusable trocars through the anterolateral wall of the bladder in the midclavicular line were introduced, insufflating the bladder with carbondioxide to 10-12 mm Hg pressure. The diverticulum/a were inverted into the bladder and the mucosa around the neck was circumcized by using scissors and a monopolar hook. The defect was sutured with interrupted sutures and the bladder was drained with a Foley catheter, which was introduced at the site of the 5-mm port, and a urethral catheter. Mean operative time was 110 minutes. No major peri- or postoperative complications were recorded, except that the displacement of one of the lateral trocars that resulted in gas leakage in 1 case. The trocar was replaced and the procedure was completed. An ultrasound and a voiding cystourethrogram, performed from 3 to 6 months after the operation, showed the disappearance of the diverticulum/a. In our experience, pneumovesicoscopic diverticulectomy is an easy, safe procedure and can be considered a valid alternative to the open or laparoscopic procedures. It also provides no postoperative discomfort and a good cosmetic result.

Dual pathology—An unreported case

PubMed Central

Yap, Darren; Rasheed, Ashraf; Rashid, Majid

2015-01-01

Introduction Symptomatic biliary disease in children and young adults requiring surgical intervention are uncommon. However even rarer is the occurrence of a spontaneous gallbladder necrosis in a child. We report a case of spontaneous necrosis in a child with no apparent causative factors. Case Fit and well 16 year-old boy presented with acute generalized lower abdominal pain. Examination revealed mild epigastric pain with rebound tenderness and guarding of the right iliac fossa. Diagnostic laparoscopy showed a necrotic gallbladder and incidental finding of a Meckel’s diverticulum. He had a cholecystectomy and Meckel’s diverticulum resection. Patient recovered uneventfully and was discharged home. He was reviewed 2 months later and recovered well with no evidence of any post-operative complication. He was discharged without any further follow up. Discussion Gall bladder necrosis is a rare cause of an acute abdomen. We present the first reported case of a spontaneous gallbladder necrosis with no apparent cause. Literature review showed various causes of gall bladder necrosis including trauma, acalculous cholecystitis, gallbladder torsion, gangrenous cholecystitis and etc. Conclusion We report a case of spontaneous gallbladder necrosis in a young healthy male with no family history of thrombotic disorders or any history of sepsis, intervention, trauma and no obvious underlying anatomical or histological abnormalities. This is an exceedingly rare pathology and one would be forgiven for not including it on the list of a differential diagnosis in such circumstance. However it is important to send tissue sample to exclude any underlying histological aetiological factors. PMID:26657530

MRI Findings of Intrinsic and Extrinsic Duodenal Abnormalities and Variations

PubMed Central

Erden, Ayse; Ustuner, Evren; Uzun, Caglar; Bektas, Mehmet

2015-01-01

This pictorial review aims to illustrate the magnetic resonance imaging (MRI) findings and presentation patterns of anatomical variations and various benign and malignant pathologies of the duodenum, including sphincter contraction, major papilla variation, prominent papilla, diverticulum, annular pancreas, duplication cysts, choledochocele, duodenal wall thickening secondary to acute pancreatitis, postbulbar stenosis, celiac disease, fistula, choledochoduodenostomy, external compression, polyps, Peutz-Jeghers syndrome, ampullary carcinoma and adenocarcinoma. MRI is a useful imaging tool for demonstrating duodenal pathology and its anatomic relationships with adjacent organs, which is critical for establishing correct diagnosis and planning appropriate treatment, especially for surgery. PMID:26576112

Fibroepithelial ureteral polyps presenting as ureteropelvic obstruction

PubMed Central

Cusano, Antonio; Abarzua-Cabezas, Fernando; Kesler, Stuart

2014-01-01

A 57-year-old woman presented with bilateral abdominal pain and flank discomfort. Imaging studies, consisting of CT scan, diethylene triamine pentaacetic acid renal scan with Lasix and a retrograde pyelogram, indicated an obstruction at the uteropelvic junction (UPJ), possibly due to fibroepithelial polyps within the ureter. A robotic pyeloplasty revealed a ureteral diverticulum and a thin, still-attached fibroepithelial polyp of approximately 2 cm in length. The patient tolerated the procedure well and was discharged one day postpyeloplasty with no reported complications. This rare clinical scenario should be considered when formulating a diagnosis for a UPJ obstruction. PMID:24759168

Oesophageal diverticula: principles of management and appraisal of classification.

PubMed Central

Borrie, J; Wilson, R L

1980-01-01

In this paper we review a consecutive series of 50 oesophageal diverticula, appraise clinical features and methods of management, and suggest an improvement on the World Health Organization classification. The link between oesophageal diverticula and motor disorders as assessed by oesophageal manometry is stressed. It is necessary to correct the functional disorder as well as the diverticulum if it is causing symptoms. A revised classification could be as follows: congenital--single or multiple; acquired--single (cricopharyngeal, mid-oesophageal, epiphrenic other) or multiple (for example, when cricopharyngeal and mid-oesophageal present together, or when there is intramural diverticulosis. Images PMID:6781091

Meckelin 3 Is Necessary for Photoreceptor Outer Segment Development in Rat Meckel Syndrome

PubMed Central

Tiwari, Sarika; Hudson, Scott; Gattone, Vincent H.; Miller, Caroline; Chernoff, Ellen A. G.; Belecky-Adams, Teri L.

2013-01-01

Ciliopathies lead to multiorgan pathologies that include renal cysts, deafness, obesity and retinal degeneration. Retinal photoreceptors have connecting cilia joining the inner and outer segment that are responsible for transport of molecules to develop and maintain the outer segment process. The present study evaluated meckelin (MKS3) expression during outer segment genesis and determined the consequences of mutant meckelin on photoreceptor development and survival in Wistar polycystic kidney disease Wpk/Wpk rat using immunohistochemistry, analysis of cell death and electron microscopy. MKS3 was ubiquitously expressed throughout the retina at postnatal day 10 (P10) and P21. However, in the mature retina, MKS3 expression was restricted to photoreceptors and the retinal ganglion cell layer. At P10, both the wild type and homozygous Wpk mutant retina had all retinal cell types. In contrast, by P21, cells expressing rod- and cone-specific markers were fewer in number and expression of opsins appeared to be abnormally localized to the cell body. Cell death analyses were consistent with the disappearance of photoreceptor-specific markers and showed that the cells were undergoing caspase-dependent cell death. By electron microscopy, P10 photoreceptors showed rudimentary outer segments with an axoneme, but did not develop outer segment discs that were clearly present in the wild type counterpart. At p21 the mutant outer segments appeared much the same as the P10 mutant outer segments with only a short axoneme, while the wild-type controls had developed outer segments with many well-organized discs. We conclude that MKS3 is not important for formation of connecting cilium and rudimentary outer segments, but is critical for the maturation of outer segment processes. PMID:23516626

Oriented clonal cell dynamics enables accurate growth and shaping of vertebrate cartilage.

PubMed

Kaucka, Marketa; Zikmund, Tomas; Tesarova, Marketa; Gyllborg, Daniel; Hellander, Andreas; Jaros, Josef; Kaiser, Jozef; Petersen, Julian; Szarowska, Bara; Newton, Phillip T; Dyachuk, Vyacheslav; Li, Lei; Qian, Hong; Johansson, Anne-Sofie; Mishina, Yuji; Currie, Joshua D; Tanaka, Elly M; Erickson, Alek; Dudley, Andrew; Brismar, Hjalmar; Southam, Paul; Coen, Enrico; Chen, Min; Weinstein, Lee S; Hampl, Ales; Arenas, Ernest; Chagin, Andrei S; Fried, Kaj; Adameyko, Igor

2017-04-17

Cartilaginous structures are at the core of embryo growth and shaping before the bone forms. Here we report a novel principle of vertebrate cartilage growth that is based on introducing transversally-oriented clones into pre-existing cartilage. This mechanism of growth uncouples the lateral expansion of curved cartilaginous sheets from the control of cartilage thickness, a process which might be the evolutionary mechanism underlying adaptations of facial shape. In rod-shaped cartilage structures (Meckel, ribs and skeletal elements in developing limbs), the transverse integration of clonal columns determines the well-defined diameter and resulting rod-like morphology. We were able to alter cartilage shape by experimentally manipulating clonal geometries. Using in silico modeling, we discovered that anisotropic proliferation might explain cartilage bending and groove formation at the macro-scale.

Central nervous system lymphoma presenting as trigeminal neuralgia: A diagnostic challenge.

PubMed

Ang, Jensen W J; Khanna, Arjun; Walcott, Brian P; Kahle, Kristopher T; Eskandar, Emad N

2015-07-01

We describe an atypical man with diffuse large B cell lymphoma localized to the sphenoid wing and adjacent cavernous sinus, initially presenting with isolated ipsilateral facial pain mimicking trigeminal neuralgia due to invasion of Meckel's cave but subsequently progressing to intra-axial extension and having synchronous features of systemic lymphoma. Primary central nervous system lymphoma is uncommon, accounting for approximately 2% of all primary intracranial tumors, but its incidence has been steadily increasing in some groups [1]. It usually arises in the periventricular cerebral white matter, and reports of lymphoma in extra-axial regions are rare [2]. This man highlights the importance of maintaining lymphoma in the differential diagnosis of tumors of the skull base presenting with trigeminal neuralgia-like symptoms. Copyright © 2015 Elsevier Ltd. All rights reserved.

Congenital left ventricular wall abnormalities in adults detected by gated cardiac multidetector computed tomography: clefts, aneurysms, diverticula and terminology problems.

PubMed

Erol, Cengiz; Koplay, Mustafa; Olcay, Ayhan; Kivrak, Ali Sami; Ozbek, Seda; Seker, Mehmet; Paksoy, Yahya

2012-11-01

Our aim was to evaluate congenital left ventricular wall abnormalities (clefts, aneurysms and diverticula), describe and illustrate imaging features, discuss terminology problems and determine their prevalence detected by cardiac CT in a single center. Coronary CT angiography images of 2093 adult patients were evaluated retrospectively in order to determine congenital left ventricular wall abnormalities. The incidence of left ventricular clefts (LVC) was 6.7% (141 patients) and statistically significant difference was not detected between the sexes regarding LVC (P=0.5). LVCs were single in 65.2% and multiple in 34.8% of patients. They were located at the basal to mid inferoseptal segment of the left ventricle in 55.4%, the basal to mid anteroseptal segment in 24.1%, basal to mid inferior segment in 17% and septal-apical septal segment in 3.5% of cases. The cleft length ranged from 5 to 22 mm (mean 10.5 mm) and they had a narrow connection with the left ventricle (mean 2.5 mm). They were contractile with the left ventricle and obliterated during systole. Congenital left ventricular septal aneurysm that was located just under the aortic valve was detected in two patients (0.1%). No case of congenital left ventricular diverticulum was detected. Cardiac CT allows us to recognize congenital left ventricular wall abnormalities which have been previously overlooked in adults. LVC is a congenital structural variant of the myocardium, is seen more frequently than previously reported and should be differentiated from aneurysm and diverticulum for possible catastrophic complications of the latter two. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Improvement in the Reflux Symptom Index Following Surgery for Cricopharyngeal Dysfunction.

PubMed

Jiang, Nancy; Sung, C Kwang; Damrose, Edward J

2017-01-01

Gastroesophageal reflux may contribute to the development of cricopharyngeal dysfunction and Zenker's diverticulum. Common dictum suggests that if upper esophageal sphincter tone is reduced through cricopharyngeal myotomy, symptoms of laryngopharyngeal reflux may worsen. We hypothesized that patients who undergo myotomy should show decreased dysphagia symptoms with concurrent worsening of reflux symptomatology and that these changes would be greater in those patients undergoing complete versus partial myotomy. A retrospective chart review was performed for patients who underwent endoscopic or open cricopharyngeal myotomy, with or without Zenker's diverticulectomy. Preoperative and postoperative reflux symptomatology was subjectively measured with the Reflux Symptom Index (RSI), and dysphagia symptomatology was measured with the Eating Assessment Tool 10 (EAT-10). Patients who underwent partial myotomy via endoscopic stapling of Zenker's diverticulum were compared with patients who underwent complete myotomy (either endoscopic laser-assisted or via an open transcervical approach). The patients were further subdivided into three groups for data analysis: endoscopic staple diverticulotomy, laser cricopharyngeal myotomy, and open approach. A total of 41 patient charts were reviewed. Of these 41 patients, 17 underwent endoscopic stapler-assisted diverticulotomy, 4 underwent endosopic laser-assisted cricopharyngeal myotomy, and 20 underwent open transcervical cricopharyngeal myotomy, with diverticulectomy as indicated. Mean pre- and postoperative RSIs were 21.8 and 8.9, respectively (P < 0.001). Mean pre- and postoperative EAT-10 scores were 19.1 and 5.0, respectively (P < 0.001). Patients' reflux symptoms significantly improved after cricopharyngeal myotomy, with significant improvement in dysphagia symptoms. Concern for worsening of reflux symptoms following surgery does not appear to be clinically common. Copyright © 2017 The Voice Foundation. Published by

The Postpharyngeal Gland: Specialized Organ for Lipid Nutrition in Leaf-Cutting Ants

PubMed Central

Decio, Pâmela; Vieira, Alexsandro Santana; Dias, Nathalia Baptista; Palma, Mario Sergio; Bueno, Odair Correa

2016-01-01

There are several hypotheses about the possible functions of the postpharyngeal gland (PPG) in ants. The proposed functions include roles as cephalic or gastric caeca and diverticulum of the digestive tract, mixing of hydrocarbons, nestmate recognition, feeding larvae, and the accumulation of lipids inside this gland, whose origin is contradictory. The current study aimed to investigate the functions of these glands by examining the protein expression profile of the PPGs of Atta sexdens rubropilosa (Hymenoptera, Formicidae). Mated females received lipid supplementation and their glands were extracted and analyzed using a proteomic approach. The protocol used combined two-dimensional electrophoresis and shotgun strategies, followed by mass spectrometry. We also detected lipid β-oxidation by immunofluorescent marking of acyl-CoA dehydrogenase. Supplying ants with lipids elicited responses in the glandular cells of the PPG; these included increased expression of proteins related to defense mechanisms and signal transduction and reorganization of the cytoskeleton due to cell expansion. In addition, some proteins in PPG were overexpressed, especially those involved in lipid and energy metabolism. Part of the lipids may be reduced, used for the synthesis of fatty alcohol, transported to the hemolymph, or may be used as substrate for the synthesis of acetyl-CoA, which is oxidized to form molecules that drive oxidative phosphorylation and produce energy for cellular metabolic processes. These findings suggest that this organ is specialized for lipid nutrition of adult leaf-cutting ants and characterized like a of diverticulum foregut, with the ability to absorb, store, metabolize, and mobilize lipids to the hemolymph. However, we do not rule out that the PPG may have other functions in other species of ants. PMID:27149618

The Spectrum of Surgical Remediation of Transoral Incisionless Fundoplication-Related Failures.

PubMed

Puri, Ruchir; Smith, C Daniel; Bowers, Steven P

2018-05-16

To evaluate outcomes of surgical remediation for symptomatic or anatomic failure after a transoral incisionless fundoplication (TIF). This retrospective study was performed on 11 patients who underwent a remedial operation following TIF failure between June 2011 and September 2016 at the Mayo Clinic in Florida for persistent foregut symptoms. Upper gastrointestinal workup characterized 1 patient as having normal post-TIF anatomy and 10 as having anatomic failure. Ambulatory pH testing was performed in 7 patients and was abnormal in all. All patients underwent a laparoscopic takedown of the prior endoscopic fundoplication and removal of all accessible polypropylene T-fasteners. All patients had esophageal salvage and have not required a reoperation. Anatomical findings included hiatal hernia (7), esophageal diverticulum (2), hiatal mesh erosion of esophagus (1), long-segment esophageal stricture (1), and normal anatomy (1). Remedial operations included laparoscopic explant of fasteners in all patients with conversion to fundoplication (7), resection/imbrication of esophageal diverticulum (2), Heller myotomy (1), and mesh explant and complex esophageal repair (1). Mean operative time was 177 minutes and median length of stay 3 days (range 2-13 days). At mean follow-up of 10.7 months (range 1-42 months), 7 patients had persistent complaints. Esophagogastroduodenoscopy was repeated in these 7 patients and was normal (n = 3), mild stenosis requiring dilation (n = 2), Los Angeles grade B esophagitis (n = 1), and Barrett's esophagus (n = 1). Anatomic distortion of the distal esophagus after TIF can be significant, making subsequent operations complex. After remedial surgery, few patients will continue to have troublesome symptoms such as dysphagia.

The Postpharyngeal Gland: Specialized Organ for Lipid Nutrition in Leaf-Cutting Ants.

PubMed

Decio, Pâmela; Vieira, Alexsandro Santana; Dias, Nathalia Baptista; Palma, Mario Sergio; Bueno, Odair Correa

2016-01-01

There are several hypotheses about the possible functions of the postpharyngeal gland (PPG) in ants. The proposed functions include roles as cephalic or gastric caeca and diverticulum of the digestive tract, mixing of hydrocarbons, nestmate recognition, feeding larvae, and the accumulation of lipids inside this gland, whose origin is contradictory. The current study aimed to investigate the functions of these glands by examining the protein expression profile of the PPGs of Atta sexdens rubropilosa (Hymenoptera, Formicidae). Mated females received lipid supplementation and their glands were extracted and analyzed using a proteomic approach. The protocol used combined two-dimensional electrophoresis and shotgun strategies, followed by mass spectrometry. We also detected lipid β-oxidation by immunofluorescent marking of acyl-CoA dehydrogenase. Supplying ants with lipids elicited responses in the glandular cells of the PPG; these included increased expression of proteins related to defense mechanisms and signal transduction and reorganization of the cytoskeleton due to cell expansion. In addition, some proteins in PPG were overexpressed, especially those involved in lipid and energy metabolism. Part of the lipids may be reduced, used for the synthesis of fatty alcohol, transported to the hemolymph, or may be used as substrate for the synthesis of acetyl-CoA, which is oxidized to form molecules that drive oxidative phosphorylation and produce energy for cellular metabolic processes. These findings suggest that this organ is specialized for lipid nutrition of adult leaf-cutting ants and characterized like a of diverticulum foregut, with the ability to absorb, store, metabolize, and mobilize lipids to the hemolymph. However, we do not rule out that the PPG may have other functions in other species of ants.

Results of a Two-stage Technique for Treatment of Proximal Hypospadias with Severe Curvature: Creation of a Urethral Plate Using a Vascularized Preputial Island Flap.

PubMed

Ozcan, Rahsan; Emre, Senol; Kendigelen, Pinar; Elicevik, Mehmet; Emir, Haluk; Soylet, Yunus; Buyukunal, S N Cenk

2016-04-16

To present the results of a two-stage technique used for the treatment of proximal hypospadias with severe curvature. The medical records of children with proximal hypospadias and severe curvature were retrospectively analyzed. A 2-stage procedure was performed in 30 children. In the first stage, the release of chordee was performed, and a well-vascularized preputial island flap was created. The vascularized island flap was brought anteriorly and sutured over the ventral surface of the glans and degloved penile shaft. The second stage was performed 6-8 months later. A neourethra was reconstructed by the tubularization of the preputial-urethral plate utilizing the principles of Duplay technique. All surgical procedures were performed between 2005 and 2011. The mean age of the patients was 4.4 years (1-17 years). The mean duration of urethral catheterization was 6 days after the first stage and 10 days following the second stage. The flaps were viable in all of the children. There was no residual chordee. Following the second stage (n = 30), complications developed in 11 children (36%), namely, a fistula in 7, a pinpoint fistula in 3, and a diverticulum formation in 1. The cosmetic outcome was satisfactory. Uroflowmetry measurements were evaluated, and only one patient had a diverticulum formation at the late follow-up. Vascularized preputial island flap is an alternative to free grafts for the reconstruction of the urethra. The main advantage of this flap technique is the creation of a thick, healthy and well-vascularized urethral plate. The advantages of this technique include better aesthetic appearance, an acceptable complication rate, and a very low rate of diverticula formation.

[Pulsative hematoma--a penile fracture complication].

PubMed

Dorde, Nale; Mićić, Sava

2007-01-01

Fracture of the penis is a direct blunt trauma of the erect or semi-erect penis. It can be treated by conservative or surgical means. Retrospective analyses of conservative penile fracture treatment reveal frequent immediate and later complications. We presented a 41-year-old patient with pulsative hematoma caused by an unusual fracture of the penis. Fracture had appeared 40 days before the admittance during a sexual intercourse. The patient was treated surgically. Pulsative hematoma (pulsative diverticulum) is a very rare, early complication of a conservatively treated penile fracture. Surgical treatment has an advantage over surgical one, which was confirmed by our case report.

Oriented clonal cell dynamics enables accurate growth and shaping of vertebrate cartilage

PubMed Central

Kaucka, Marketa; Zikmund, Tomas; Tesarova, Marketa; Gyllborg, Daniel; Hellander, Andreas; Jaros, Josef; Kaiser, Jozef; Petersen, Julian; Szarowska, Bara; Newton, Phillip T; Dyachuk, Vyacheslav; Li, Lei; Qian, Hong; Johansson, Anne-Sofie; Mishina, Yuji; Currie, Joshua D; Tanaka, Elly M; Erickson, Alek; Dudley, Andrew; Brismar, Hjalmar; Southam, Paul; Coen, Enrico; Chen, Min; Weinstein, Lee S; Hampl, Ales; Arenas, Ernest; Chagin, Andrei S; Fried, Kaj; Adameyko, Igor

2017-01-01

Cartilaginous structures are at the core of embryo growth and shaping before the bone forms. Here we report a novel principle of vertebrate cartilage growth that is based on introducing transversally-oriented clones into pre-existing cartilage. This mechanism of growth uncouples the lateral expansion of curved cartilaginous sheets from the control of cartilage thickness, a process which might be the evolutionary mechanism underlying adaptations of facial shape. In rod-shaped cartilage structures (Meckel, ribs and skeletal elements in developing limbs), the transverse integration of clonal columns determines the well-defined diameter and resulting rod-like morphology. We were able to alter cartilage shape by experimentally manipulating clonal geometries. Using in silico modeling, we discovered that anisotropic proliferation might explain cartilage bending and groove formation at the macro-scale. DOI: http://dx.doi.org/10.7554/eLife.25902.001 PMID:28414273

Neoinfundibulotomy for the management of symptomatic caliceal diverticula.

PubMed

Auge, Brian K; Munver, Ravi; Kourambas, John; Newman, Glenn E; Wu, Ning Z; Preminger, Glenn M

2002-04-01

Direct percutaneous access provides effective treatment for complex caliceal diverticula. Yet, access into the diverticulum alone is usually tenuous and passage of a guide wire across a stenotic infundibulum is often impossible. An alternative technique is described which creates a "neoinfundibulum" to assist in the management of symptomatic caliceal diverticula. During a 6-year period 22 patients with symptomatic caliceal diverticula were treated via a percutaneous approach, of whom 21 had calculi within the diverticula. After accessing the diverticulum directly, it was impossible to pass a guide wire through the stenotic infundibulum in 18 (82%) patients, prompting advancement of the access needle through the diverticular wall into the renal pelvis. Once secure access was established, balloon dilation was performed to 30Fr to create the "neoinfundibulum." Percutaneous ultrasonic lithotripsy was performed in the usual fashion. A 22Fr Councill catheter was placed to keep the infundibular tract open for 5 to 7 days to allow complete epithelialization and drainage. Stone-free, symptom-free and complication rates were assessed. Pain, recurrent urinary tract infections and hematuria were the presenting complaints in the subgroup of patients undergoing "neoinfundibulotomy." Average stone burden was 11.7 x 12 mm. and average hospital stay was 2.8 days. Of the patients 94% were symptom-free at 6-week followup, and 80% were stone-free on followup excretory urography. The remaining patients had residual stone fragments less than 3 mm. in diameter. Complications related to access were identified in 2 patients who sustained a pneumothorax after a supra-11th rib access, which was successfully managed with tube thoracostomy. Percutaneous management of complex caliceal diverticula provides a safe and effective option for symptomatic patients. When the stenotic infundibulum cannot be traversed with a guide wire, creation of a new infundibulum offers a secure alternative for

Ventricular diverticula formation in captive parakeet auklets (Aethia psittacula) secondary to foreign body ingestion.

PubMed

Degernes, Laurel A; Wolf, Karen N; Zombeck, Debbie J; MacLean, Robert A; De Voe, Ryan S

2012-12-01

A captive parakeet auklet at the North Carolina Zoo evaluated for weight loss, lethargy, and dyspnea had radiographic evidence of a distended, stone-filled ventriculus (bird 1). Multiple stones (n = 76) were removed surgically, but the bird died and a large ventricular diverticulum was diagnosed at necropsy. This bird and seven other parakeet auklets had been transferred 3 yr earlier from a zoo in Ohio. Radiographic investigation revealed that 6 of 7 Ohio birds had stones in their ventriculus (n= 2-26), but only 1 of 7 radiographed North Carolina Zoo auklets had one small stone. Further diagnostic imaging (survey and contrast radiographs, fluoroscopy, CT scans [n = 2]) of six Ohio and two North Carolina birds was conducted to determine if other birds had ventricular abnormalities (birds 2-9). No ventricular diverticula were diagnosed using imaging techniques, although two Ohio birds (birds 6 and 7) required surgical intervention to remove 12-26 stones. A small ventricular diverticulum was identified in bird 6 during surgery. That bird died of unrelated causes 11 mo after surgery, but bird 7 remains clinically normal more than 4 yr later, along with four other auklets with stones (n = 2-15; birds 2-5). It is possible that without surgical intervention, these birds may develop ventricular disease, presumably due to chronic mechanical trauma to the thin-walled ventriculus. It was hypothesized that the Ohio birds ingested stones in their previous exhibit, with a loose stone substrate, and retained them for at least 3 yr. Possible causes for stone ingestion include trituration (for grinding, mixing coarse ingesta), gastric parasite reduction, hunger suppression, accidental ingestion while feeding, or behavioral causes, but the underlying cause in these birds was not determined. Based on these results, parakeet auklets and other alcids should not be housed, or at least fed, on a loose stone substrate.

Logical hypothesis: Low FODMAP diet to prevent diverticulitis

PubMed Central

Uno, Yoshiharu; van Velkinburgh, Jennifer C

2016-01-01

Despite little evidence for the therapeutic benefits of a high-fiber diet for diverticulitis, it is commonly recommended as part of the clinical management. The ongoing uncertainty of the cause(s) of diverticulitis confounds attempts to determine the validity of this therapy. However, the features of a high-fiber diet represent a logical contradiction for colon diverticulitis. Considering that Bernoulli’s principle, by which enlarged diameter of the lumen leads to increased pressure and decreased fluid velocity, might contribute to development of the diverticulum. Thus, theoretically, prevention of high pressure in the colon would be important and adoption of a low FODMAP diet (consisting of fermentable oligosaccharides, disaccharides, monosaccharides, and polyols) may help prevent recurrence of diverticulitis. PMID:27867683

Endoscopic Removal of a Giant Gastric Bezoar in a Gastric pouch Diverticulum

DTIC Science & Technology

2017-08-15

hair ), pharmacobezoars (medications), mid laclobezoars (milk). This is a case of a giant phytobezoar. requiring endoscopic rein oval. 1S. SUBJECT...classified into four types, depending on the material constituting the indigestible mass of the bezoar: phytobezoars (plants), trichobezoars ( hair

Anterior urethral valves without diverticulae: a report of two cases and a review of the literature.

PubMed

Singh, Dig Vijay; Taneja, Rajesh

2014-05-01

Two unusual cases of anterior urethral valves (AUV) without diverticulae are presented. The first case is a male child born with prenatal diagnosis of bilateral hydronephrosis. On cystoscopy, iris-like diaphragm valves were encountered about 3 mm distal to the skeletal sphincter. In the second case, an 18-month-old male child was investigated for recurrent febrile urinary tract infections and obstructed urinary symptoms. Cystoscopy confirmed the presence of slit-like valves 5 mm distal to the skeletal sphincter. Fulguration of the AUVs was performed in both cases. It may be worthwhile to review all cases of anterior urethral obstruction collectively and re-categorize them appropriately to include the unusual AUVs without diverticulum in that classification. © 2013 Japanese Teratology Society.

Endometriosis presenting as a vaginal mass.

PubMed

Nelson, Philippa

2018-01-23

A 43-year-old woman with an anterior vaginal wall mass was referred to gynaecology outpatient for diagnosis and management. Clinical assessment was indicative of a urethral diverticulum, however MRI and ultrasound imaging suggested a Gartner's duct cyst. Following excision of the lesion, histology revealed evidence of an endometriotic cyst. The patient had no other symptoms of endometriosis and remained asymptomatic 3 months following excision. This case highlights the widespread locations in which endometrial tissue can be found, and therefore the range of symptomatology. This in turn lends itself to diagnostic difficulty without histological confirmation. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

What is the function of centrioles?

PubMed

Marshall, Wallace F

2007-03-01

The function of centrioles has been controversial and remains incompletely resolved. This is because centrioles, in and of themselves, do not directly perform any physiological activity. Instead, their role is only to act as a jig or breadboard onto which other functional structures can be built. Centrioles are primarily involved in forming two structures-centrosomes and cilia. Centrioles bias the position of spindle pole formation, but because spindle poles can self-organize, the function of the centriole in mitosis is not obligatory. Consequently, lack of centrioles does not generally prevent mitosis, although recent experiments suggest acentriolar spindles have reduced fidelity of chromosome segregation. In contrast, centrioles are absolutely required for the assembly of cilia, including primary cilia that act as cellular antennae. Consistent with this requirement, it is now becoming clear that many ciliary diseases, including nephronophthisis, Bardet-Biedl syndrome, Meckel Syndrome, and Oral-Facial-Digital syndrome, are caused by defects in centriole-associated proteins.

Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks.

PubMed

Murray, J C; Johnson, J A; Bird, T D

1985-10-01

The Dandy-Walker malformation (DWM) includes hydrocephalus, incomplete cerebellar vermis and a posterior fossa cyst. Genetic influences and recurrence risks for DWM have not been well characterized. We report a retrospective study of 21 autopsy-proven cases of DWM and review the literature regarding an additional 92 subjects. DWM represents marked genetic and etiologic heterogeneity. Recurrence risk for siblings may be high when DWM is associated with a single gene disorder such as the autosomal recessive Warburg and Meckel-Gruber syndromes. DWM may also result from chromosomal anomalies or environmental factors. When the evidence suggests that DWM has not occurred as part of a Mendelian or chromosomal disorder then the recurrence risk is relatively low (on the order of 1 to 5%). There appears to be an increased frequency of the association of DWM with congenital heart disease, cleft lip/palate and neural tube defects. Based on our study we provide guidelines for the genetic counseling of families having a child with DWM.

Transferrin receptor facilitates TGF-β and BMP signaling activation to control craniofacial morphogenesis

PubMed Central

Lei, R; Zhang, K; Liu, K; Shao, X; Ding, Z; Wang, F; Hong, Y; Zhu, M; Li, H; Li, H

2016-01-01

The Pierre Robin Sequence (PRS), consisting of cleft palate, glossoptosis and micrognathia, is a common human birth defect. However, how this abnormality occurs remains largely unknown. Here we report that neural crest cell (NCC)-specific knockout of transferrin receptor (Tfrc), a well known transferrin transporter protein, caused micrognathia, cleft palate, severe respiratory distress and inability to suckle in mice, which highly resemble human PRS. Histological and anatomical analysis revealed that the cleft palate is due to the failure of palatal shelves elevation that resulted from a retarded extension of Meckel's cartilage. Interestingly, Tfrc deletion dramatically suppressed both transforming growth factor-β (TGF-β) and bone morphogenetic protein (BMP) signaling in cranial NCCs-derived mandibular tissues, suggesting that Tfrc may act as a facilitator of these two signaling pathways during craniofacial morphogenesis. Together, our study uncovers an unknown function of Tfrc in craniofacial development and provides novel insight into the etiology of PRS. PMID:27362800

[Apoplexy, diverticulum or Alzheimer disease? Deglutition disorders in seniors must always be evaluated!].

PubMed

Koester, M; Nekahm-Heis, D; Zorowka, P

2003-01-23

Problems with swallowing (dysphagia) occur in association with numerous illnesses. In many cases, however, they are either not recognized or considered not to require clarification, since other symptoms are of greater importance. In elderly, often multimorbid patients, neurodegenerative diseases, such as apoplexy, are the most common causes of dysphagia, but medications with central nervous side effects may also impair swallowing. The difficulty may be localized either in the oropharyngeal region or in the esophagus. There is considerable danger that such complications as aspiration pneumonia and malnutrition may occur and thus increase morbidity and mortality. In addition, the quality of life of the patient may also be diminished. The family doctor has the important task of initiating a differentiated diagnosis based on careful history-taking and a clinical examination that should include an inspection of the oral cavity and the nerves supplying the brain. Early treatment, for example, involving a logopedist, can be effective.

Multidetector-row computed tomography of thoracic aortic anomalies in dogs and cats: Patent ductus arteriosus and vascular rings

PubMed Central

2011-01-01

Background Diagnosis of extracardiac intrathoracic vascular anomalies is of clinical importance, but remains challenging. Traditional imaging modalities, such as radiography, echocardiography, and angiography, are inherently limited by the difficulties of a 2-dimensional approach to a 3-dimensional object. We postulated that accurate characterization of malformations of the aorta would benefit from 3-dimensional assessment. Therefore, multidetector-row computed tomography (MDCT) was chosen as a 3-dimensional, new, and noninvasive imaging technique. The purpose of this study was to evaluate patients with 2 common diseases of the intrathoracic aorta, either patent ductus arteriosus or vascular ring anomaly, by contrast-enhanced 64-row computed tomography. Results Electrocardiography (ECG)-gated and thoracic nongated MDCT images were reviewed in identified cases of either a patent ductus arteriosus or vascular ring anomaly. Ductal size and morphology were determined in 6 dogs that underwent ECG-gated MDCT. Vascular ring anomalies were characterized in 7 dogs and 3 cats by ECG-gated MDCT or by a nongated thoracic standard protocol. Cardiac ECG-gated MDCT clearly displayed the morphology, length, and caliber of the patent ductus arteriosus in 6 affected dogs. Persistent right aortic arch was identified in 10 animals, 8 of which showed a coexisting aberrant left subclavian artery. A mild dilation of the proximal portion of the aberrant subclavian artery near its origin of the aorta was present in 4 dogs, and a diverticulum analogous to the human Kommerell's diverticulum was present in 2 cats. Conclusions Contrast-enhanced MDCT imaging of thoracic anomalies gives valuable information about the exact aortic arch configuration. Furthermore, MDCT was able to characterize the vascular branching patterns in dogs and cats with a persistent right aortic arch and the morphology and size of the patent ductus arteriosus in affected dogs. This additional information can be of help

Duplication cyst of the small intestine found by double-balloon endoscopy: A case report

PubMed Central

Ogino, Haruei; Ochiai, Toshiaki; Nakamura, Norimoto; Yoshimura, Daisuke; Kabemura, Teppei; Kusumoto, Tetsuya; Matsuura, Hiroshi; Nakashima, Akihiko; Honda, Kuniomi; Nakamura, Kazuhiko

2008-01-01

A 35-year-old man was admitted due to bloody stool and anemia. The bleeding source could not be detected by esophagogastroduodenoscopy or colonoscopy. Double balloon endoscopy (DBE) revealed a diverticulum-like hole in which coagula stuck in the ileum at 1 meter on the oral side from the ileocecal valve. The adjacent mucosa just to the oral side of the hole was elevated like a submucosal tumor. The lesion was considered the source of bleeding and removed surgically. It was determined to be a cyst with an ileal structure on the mesenteric aspect accompanying gastric mucosa. The diagnosis was a duplication cyst of the ileum, which is a rare entity that can cause gastrointestinal bleeding. In the present case, DBE was used to find the hemorrhagic duplication cyst in the ileum. PMID:18609722

Solitary Large Intestinal Diverticulitis in Leatherback Turtles (Dermochelys coriacea).

PubMed

Stacy, B A; Innis, C J; Daoust, P-Y; Wyneken, J; Miller, M; Harris, H; James, M C; Christiansen, E F; Foley, A

2015-07-01

Leatherback sea turtles are globally distributed and endangered throughout their range. There are limited data available on disease in this species. Initial observations of solitary large intestinal diverticulitis in multiple leatherbacks led to a multi-institutional review of cases. Of 31 subadult and adult turtles for which complete records were available, all had a single exudate-filled diverticulum, as large as 9.0 cm in diameter, arising from the large intestine immediately distal to the ileocecal junction. All lesions were chronic and characterized by ongoing inflammation, numerous intralesional bacteria, marked attenuation of the muscularis, ulceration, and secondary mucosal changes. In three cases, Morganella morganii was isolated from lesions. Diverticulitis was unrelated to the cause of death in all cases, although risk of perforation and other complications are possible. © The Author(s) 2014.

Plastic bag clip discovered in partial colectomy accompanying proposal for phylogenic plastic bag clip classification

PubMed Central

Lehmer, Larisa M; Ragsdale, Bruce D; Daniel, John; Hayashi, Edwin; Kvalstad, Robert

2011-01-01

A plastic bag clip was incidentally found anchored in the mucosa of a partial colectomy specimen 2.6 cm proximal to a ruptured diverticulum for which the patient, a mentally retarded, diabetic, 58-year-old man, underwent surgery. Over 20 cases of accidental ingestion of plastic bag clips have been published. Known complications include small bowel perforation, obstruction, dysphagia, gastrointestinal bleeding and colonic impaction. Preoperative diagnosis of plastic clips lodged in the gastrointestinal tract is frustrated due to radiographic translucency. This occult threat could likely be prevented by the design of gastrointestinally safe, plastic-bag-sealing devices. Presented here is a morphologically based classification of bag clips as a possible guide for determining the most hazardous varieties and to aid further discussions of their impact on health. PMID:22679182

Surgical removal of a large vaginal calculus formed after a tension-free vaginal tape procedure.

PubMed

Zilberlicht, Ariel; Feiner, Benjamin; Haya, Nir; Auslender, Ron; Abramov, Yoram

2016-11-01

Vaginal calculus is a rare disorder which has been reported in association with urethral diverticulum, urogenital sinus anomaly, bladder exstrophy and the tension-free vaginal tape (TVT) procedure. We report a 42-year-old woman who presented with persistent, intractable urinary tract infection (UTI) following a TVT procedure. Cystoscopy demonstrated an eroded tape with the formation of a bladder calculus, and the patient underwent laser cystolithotripsy and cystoscopic resection of the tape. Following this procedure, her UTI completely resolved and she remained asymptomatic for several years. Seven years later she presented with a solid vaginal mass. Pelvic examination followed by transvaginal ultrasonography and magnetic resonance imaging demonstrated a large vaginal calculus located at the lower third of the anterior vaginal wall adjacent to the bladder neck. This video presents the transvaginal excision and removal of the vaginal calculus.

Subacute cholestatic hepatitis likely related to the use of senna for chronic constipation.

PubMed

Sonmez, Alper; Yilmaz, M Ilker; Mas, Refik; Ozcan, Ayhan; Celasun, Bülent; Dogru, Teoman; Taslipinar, Abdullah; Kocar, I Hakki

2005-01-01

We report a case of senna-induced cholestatic hepatitis which was not diagnosed at presentation. A 77 year old male was referred with abdominal pain, jaundice and elevated transaminase levels. A diagnosis of extrahepatic cholestasis was first suspected, due to the observation of a duodenal diverticulum and dilated proximal choledocus. However, the sphincterotomy did not improve cholestasis. At further evaluation, HBsAg was positive but serological work up was compatible with a healthy-carrier status. Further interrogation of the patient revealed a history of chronic senna intake to treat a chronic constipation. Liver biopsy showed bridging hepatocellular necrosis as well as canalicular cholestasis. Drug withdrawal resulted in a slow and progressive reduction in bilirubin levels and liver enzymes. In this case senna was likely the cause of a subacute cholestatic hepatitis exemplifying again the potential role of herbal related liver injury.

Trends in Simple Prostatectomy for Benign Prostatic Hyperplasia.

PubMed

Pariser, Joseph J; Packiam, Vignesh T; Adamsky, Melanie A; Bales, Gregory T

2016-08-01

The definitive treatment for symptomatic large volume (>80 mL) benign prostatic hyperplasia (BPH) is simple prostatectomy (SP). This can be performed by utilizing a retropubic, suprapubic, or a combined approach. The latter two approaches allow for the management of concomitant bladder diverticulum or stones through the same incision. Each approach affords unique technical strengths and weaknesses that must be considered in light of patient characteristics and concomitant pathology. SP allows for removal of the entire prostatic adenoma while obviating some of the neurovascular and continence issues that can arise from radical prostatectomy. Concerns with SP include its relatively high perioperative morbidity, notably bleeding. Therefore, there is increasing interest in less invasive options, including enucleation procedures and minimally invasive SP. This review presents an update regarding trends and outcomes of SP, as well as the effectiveness and popularity of alternative treatments.

Isolation and proteomic analysis of Chlamydomonas centrioles.

PubMed

Keller, Lani C; Marshall, Wallace F

2008-01-01

Centrioles are barrel-shaped cytoskeletal organelles composed of nine triplet microtubules blades arranged in a pinwheel-shaped array. Centrioles are required for recruitment of pericentriolar material (PCM) during centrosome formation, and they act as basal bodies, which are necessary for the outgrowth of cilia and flagella. Despite being described over a hundred years ago, centrioles are still among the most enigmatic organelles in all of cell biology. To gain molecular insights into the function and assembly of centrioles, we sought to determine the composition of the centriole proteome. Here, we describe a method that allows for the isolation of virtually "naked" centrioles, with little to no obscuring PCM, from the green alga, Chlamydomonas. Proteomic analysis of this material provided evidence that multiple human disease gene products encode protein components of the centriole, including genes involved in Meckel syndrome and Oral-Facial-Digital syndrome. Isolated centrioles can be used in combination with a wide variety of biochemical assays in addition to being utilized as a source for proteomic analysis.

Phase Structure of Strong-Field Tunneling Wave Packets from Molecules.

PubMed

Liu, Ming-Ming; Li, Min; Wu, Chengyin; Gong, Qihuang; Staudte, André; Liu, Yunquan

2016-04-22

We study the phase structure of the tunneling wave packets from strong-field ionization of molecules and present a molecular quantum-trajectory Monte Carlo model to describe the laser-driven dynamics of photoelectron momentum distributions of molecules. Using our model, we reproduce and explain the alignment-dependent molecular frame photoelectron spectra of strong-field tunneling ionization of N_{2} reported by M. Meckel et al. [Nat. Phys. 10, 594 (2014)]. In addition to modeling the low-energy photoelectron angular distributions quantitatively, we extract the phase structure of strong-field molecular tunneling wave packets, shedding light on its physical origin. The initial phase of the tunneling wave packets at the tunnel exit depends on both the initial transverse momentum distribution and the molecular internuclear distance. We further show that the ionizing molecular orbital has a critical effect on the initial phase of the tunneling wave packets. The phase structure of the photoelectron wave packet is a key ingredient for modeling strong-field molecular photoelectron holography, high-harmonic generation, and molecular orbital imaging.

Ciliopathy proteins establish a bipartite signaling compartment in a C. elegans thermosensory neuron

PubMed Central

Nguyen, Phuong Anh T.; Liou, Willisa; Hall, David H.; Leroux, Michel R.

2014-01-01

ABSTRACT How signaling domains form is an important, yet largely unexplored question. Here, we show that ciliary proteins help establish two contiguous, yet distinct cyclic GMP (cGMP) signaling compartments in Caenorhabditis elegans thermosensory AFD neurons. One compartment, a bona fide cilium, is delineated by proteins associated with Bardet–Biedl syndrome (BBS), Meckel syndrome and nephronophthisis at its base, and requires NPHP-2 (known as inversin in mammals) to anchor a cGMP-gated ion channel within the proximal ciliary region. The other, a subcompartment with profuse microvilli and a different lipid environment, is separated from the dendrite by a cellular junction and requires BBS-8 and DAF-25 (known as Ankmy2 in mammals) for correct localization of guanylyl cyclases needed for thermosensation. Consistent with a requirement for a membrane diffusion barrier at the subcompartment base, we reveal the unexpected presence of ciliary transition zone proteins where no canonical transition zone ultrastructure exists. We propose that differential compartmentalization of signal transduction components by ciliary proteins is important for the functions of ciliated sensory neurons. PMID:25335890

Long-term psychosocial adjustments, satisfaction related to gender and the family equations in disorders of sexual differentiation with male sex assignment.

PubMed

Gupta, Deepika; Bhardwaj, Madhu; Sharma, Shilpa; Ammini, A C; Gupta, Devendra K

2010-10-01

The varied management and counseling in disorders of sexual differentiation (DSD) depends a lot on the socioeconomic structure. A follow-up study was designed to evaluate the outcome in terms of patient satisfaction with strong socio-cultural issues. Of the 1,134 DSD patients being followed up in pediatric intersex clinic, 60 adolescents and adults assigned male sex in childhood were called for follow-up. They were interviewed for psychosocial and family adjustments including level of acceptance of gender, social relationships and future expectations. The ages ranged from 15 to 25 years (mean, 19.3 ± 3.7 years). The disorders were male pseudo hermaphrodite (MPH)-43, mixed gonadal dysgenesis (MGD)-3, true hermaphrodite (TH)-7 and congenital adrenal hyperplasia (CAH)-7. Of all patients, 85% (51/60) felt satisfied with their gender assignment; 76.9% (46/60) did not feel comfortable with the opposite sex. Penile erections; ejaculation and masculine voice were present in 53, 44 and 47 patients. Facial hair was normal; sparse and absent in 16, 26 and 18 patients, respectively. Stretched penile length was 2.5-9 cm (median, 5.5 cm) and 16/60 patients were satisfied with their penile length; 28 patients required redo surgeries for scrotum diverticulum (1), proximal penile diverticulum (1), stricture urethra (2), hair in the urethra (3), vaginal pouch dilatation (1), orchiopexy (2), residual chordee correction (3), distal urethroplasty (4), urethral fistula repair (21), mastectomy (6) and testicular prosthesis (4). Family support was available to all 85% (51/60) of the patients who had good family relationships. However, only 15% (9/60) felt that they fitted into society. Peer relationships were considered 'good' by 43/60 and poor by 17/60. Two patients had got married and 44.8% (26/58) patients would consider marriage in future. Most patients (42/60) were worried about the smaller size of the phallus and lack of adequate semen, leading to apprehension before marriage. As

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.

Genetic disruption of CYP26B1 severely affects development of neural crest derived head structures, but does not compromise hindbrain patterning.

PubMed

Maclean, Glenn; Dollé, Pascal; Petkovich, Martin

2009-03-01

Cyp26b1 encodes a cytochrome-P450 enzyme that catabolizes retinoic acid (RA), a vitamin A derived signaling molecule. We have examined Cyp26b1(-/-) mice and report that mutants exhibit numerous abnormalities in cranial neural crest cell derived tissues. At embryonic day (E) 18.5 Cyp26b1(-/-) animals exhibit a truncated mandible, abnormal tooth buds, reduced ossification of calvaria, and are missing structures of the maxilla and nasal process. Some of these abnormalities may be due to defects in formation of Meckel's cartilage, which is truncated with an unfused distal region at E14.5 in mutant animals. Despite the severe malformations, we did not detect any abnormalities in rhombomere segmentation, or in patterning and migration of anterior hindbrain derived neural crest cells. Abnormal migration of neural crest cells toward the posterior branchial arches was observed, which may underlie defects in larynx and hyoid development. These data suggest different periods of sensitivity of anterior and posterior hindbrain neural crest derivatives to elevated levels of RA in the absence of CYP26B1. (c) 2009 Wiley-Liss, Inc.

Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies

PubMed Central

Iannicelli, Miriam; Brancati, Francesco; Mougou-Zerelli, Soumaya; Mazzotta, Annalisa; Thomas, Sophie; Elkhartoufi, Nadia; Travaglini, Lorena; Gomes, Céline; Ardissino, Gian Luigi; Bertini, Enrico; Boltshauser, Eugen; Castorina, Pierangela; D'Arrigo, Stefano; Fischetto, Rita; Leroy, Brigitte; Loget, Philippe; Bonnière, Maryse; Starck, Lena; Tantau, Julia; Gentilin, Barbara; Majore, Silvia; Swistun, Dominika; Flori, Elizabeth; Lalatta, Faustina; Pantaleoni, Chiara; Johannes.Penzien; Grammatico, Paola; Dallapiccola, Bruno; Gleeson, Joseph G.; Attie-Bitach, Tania; Valente, Enza Maria

2010-01-01

Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin. PMID:20232449

Risk factors for bacterial contamination during boar semen collection.

PubMed

Goldberg, Ana Maria G; Argenti, Laura E; Faccin, Jamil E; Linck, Lídia; Santi, Mônica; Bernardi, Mari Lourdes; Cardoso, Marisa R I; Wentz, Ivo; Bortolozzo, Fernando P

2013-10-01

The aim of this study was to evaluate the influence of multiple factors on bacterial contamination in 213 ejaculates from four boar studs. Semen contamination by aerobic mesophiles increased in ejaculates where the preputial fluid flowed into the collection container, collection glove was dirty, preputial hair was long (>1.0 cm), the collection lasted >7 min and boars were older than 18 months. An increase in coliforms occurred when preputial fluid dripped into the collection container, collections lasted >7 min or when penis escaped during collection. Semen contamination increased when two or more factors related to hygiene (poor hygiene of the boar, dirty preputial ostium, large preputial diverticulum, long preputial hair, dirty gloves, preputial liquid trickling from the hand of the technician into the semen container and penis escaping) were present. A vigilant protocol of collection must be followed to minimize bacterial contamination, especially avoiding dripping of preputial liquid into the semen container. Copyright © 2013 Elsevier Ltd. All rights reserved.

Complicated bile duct stones

PubMed Central

Roy, Ashwin; Martin, Derrick

2013-01-01

Common bile duct stones (CBDSs) are solid deposits that can either form within the gallbladder or migrate to the common bile duct (CBD), or form de novo in the biliary tree. In the USA around 15% of the population have gallstones and of these, 3% present with symptoms annually. Because of this, there have been major advancements in the management of gallstones and related conditions. Management is based on the patient's risk profile; young and healthy patients are likely to be recommended for surgery and elderly patients with comorbidities are usually recommended for endoscopic procedures. Imaging of gallstones has advanced in the last 30 years with endoscopic retrograde cholangiopancreatography evolving from a diagnostic to a therapeutic procedure in removing CBDSs. We present a complicated case of a patient with a CBDS and periampullary diverticulum and discuss the techniques used to diagnose and remove the stone from the biliary system. PMID:23946532

Canine dacryolithiasis: a case description and mineral analysis.

PubMed

Malho, Pedro; Sansom, Jane; Johnson, Phillipa; Stewart, Jennifer

2013-07-01

A 4-year-old, female, spayed, Labrador retriever was presented with a painless swelling of the left ventromedial eyelid and epiphora of 3 months duration. Bilateral patency of the nasolacrimal system was confirmed by the appearance of fluorescein dye at both nares. Ultrasonography revealed a well-demarcated fluid-filled structure containing echogenic ill-defined material in close proximity to the nasolacrimal system. A transconjunctival surgical approach confirmed the close anatomical proximity of the cyst and the absence of a communication with the inferior canaliculus. The cyst contained multiple intraluminal calculi (dacryoliths). Following surgical excision of the cyst, the epiphora resolved and no recurrence was noted over a 12-month follow-up period. On histopathology, the cystic structure was lined by stratified squamous epithelium, consistent with lacrimal canaliculus epithelium. Presumed progression of a canalicular diverticulum to a cyst with the formation of intraluminal dacryoliths was suspected. Mineral analysis of the dacryoliths revealed a calcium carbonate composition. © 2012 American College of Veterinary Ophthalmologists.

Obstructing urethral calculus in a woman revealed to be the cause of chronic pelvic pain.

PubMed

Thomas, J S; Crew, J

2012-10-01

Urethral calculi are extremely rarely reported in Caucasian females and are usually associated with an anatomical abnormality such as a diverticulum or a stricture. Ureteric calculi can move to become lodged in the urethra, although this is rare in women because of their short urethral length. We present a case of a 55-year-old woman presenting with urinary retention secondary to an obstructing upper tract calculus that had moved into the urethra. Four years previously, the patient had been diagnosed with chronic pelvic pain following a primary posterior vaginal wall repair. Following treatment of the obstructing calculus, her symptoms of pelvic pain completely resolved. We report a very unusual case that highlights the importance of investigating chronic pelvic pain. This patient's symptom of vaginal pain, though highly localized, was caused by pathology elsewhere in the pelvis. Alternative diagnoses should be sought for such patients and investigation performed to detect any nonvisible hematuria.

Unexpected outcome of a modification of Bracka repair for proximal hypospadias: High incidence of diverticula with flaps.

PubMed

Tiryaki, Sibel; Ələkbərova, Vüsalə; Dokumcu, Zafer; Ergun, Raziye; Tekin, Ali; Yagmur, Ismail; Ulman, Ibrahim; Avanoglu, Ali

2016-12-01

Various graft and flap techniques have been proposed for urethral reconstruction in proximal hypospadias repair. The Bracka repair involving the transfer of inner prepuce like a Wolfe graft mostly results in satisfactory results besides a high fistula rate. The aim was to decrease the high fistula rate with Bracka repair; we wanted to use the advantages of vascularized skin in the Bracka method. The aim of this study was to evaluate our results with this modification. Our modification involves using a flap instead of a graft. In the first stage, chordee was corrected by transection of the urethral plate and dorsal midline plication when necessary. Instead of a graft as suggested by Bracka, inner preputial skin with ample blood supply was transferred and stitched to the denuded ventral penile surface. In the second stage after 6 months, this flap was tubularized in the Thiersch-Duplay fashion. Hospital records of patients who had undergone two stage modified Bracka repair between June 2007 and July 2012 were reviewed, including complaints, complications, and need for interventions. Thirty-eight patients had undergone this operation. Four patients were lost to follow-up. The main complaint was obstructed urinary flow. Voiding symptoms were first attributed to urethral stenosis, but were, however, found to be due to diverticulum and vortex of the urine in the dilated urethra. Twenty-one patients (61%) had voiding problems and 10 patients (29%) had urinary tract infections. Fistula was observed in 23 and diverticula were observed in 24 patients. Of these, 16 patients had both fistula and diverticula. Only two patients (5%) were free of complications and totally satisfied with the operation, and 23 of the 34 patients had complications requiring intervention (Figure). Inner preputial flaps used in proximal hypospadias repairs are prone to diverticula formation. They become redundant in time requiring reoperation, thus decreasing the success rate. Careful fixation of the

Dynamic half Fourier acquisition, single shot turbo spin-echo magnetic resonance imaging for evaluating the female pelvis.

PubMed

Gousse, A E; Barbaric, Z L; Safir, M H; Madjar, S; Marumoto, A K; Raz, S

2000-11-01

We assessed the merit of dynamic half Fourier acquisition, single shot turbo spin-echo sequence T2-weighted magnetic resonance imaging (MRI) for evaluating pelvic organ prolapse and all other female pelvic pathology by prospectively correlating clinical with imaging findings. From September 1997 to April 1998, 100 consecutive women 23 to 88 years old with (65) and without (35) pelvic organ prolapse underwent half Fourier acquisition, single shot turbo spin-echo sequence dynamic pelvic T2-weighted MRI at our institution using a 1.5 Tesla magnet with phased array coils. Mid sagittal and parasagittal views with the patient supine, relaxed and straining were obtained using no pre-examination preparation or instrumentation. We evaluated the anterior vaginal wall, bladder, urethra, posterior vaginal wall, rectum, pelvic floor musculature, perineum, uterus, vaginal cuff, ovaries, ureters and intraperitoneal organs for all pathological conditions, including pelvic prolapse. Patients underwent a prospective physical examination performed by a female urologist, and an experienced radiologist blinded to pre-imaging clinical findings interpreted all studies. Physical examination, MRI and intraoperative findings were statistically correlated. Total image acquisition time was 2.5 minutes, room time 10 minutes and cost American $540. Half Fourier acquisition, single shot turbo spin-echo T2-weighted MRI revealed pathological entities other than pelvic prolapse in 55 cases, including uterine fibroids in 11, ovarian cysts in 9, bilateral ureteronephrosis in 3, nabothian cyst in 7, Bartholin's gland cyst in 4, urethral diverticulum in 3, polytetrafluoroethylene graft abscess in 3, bladder diverticulum in 2, sacral spinal abnormalities in 2, bladder tumor in 1, sigmoid diverticulosis in 1 and other in 9. Intraoperative findings were considered the gold standard against which physical examination and MRI were compared. Using these criteria the sensitivity, specificity and positive

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

PubMed

Travaglini, Lorena; Brancati, Francesco; Silhavy, Jennifer; Iannicelli, Miriam; Nickerson, Elizabeth; Elkhartoufi, Nadia; Scott, Eric; Spencer, Emily; Gabriel, Stacey; Thomas, Sophie; Ben-Zeev, Bruria; Bertini, Enrico; Boltshauser, Eugen; Chaouch, Malika; Cilio, Maria Roberta; de Jong, Mirjam M; Kayserili, Hulya; Ogur, Gonul; Poretti, Andrea; Signorini, Sabrina; Uziel, Graziella; Zaki, Maha S; Johnson, Colin; Attié-Bitach, Tania; Gleeson, Joseph G; Valente, Enza Maria

2013-10-01

Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation known as the 'molar tooth sign'. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence of INPP5E mutations in JSRD and MKS remain largely unknown. To address this issue, we performed INPP5E mutation analysis in 483 probands, including 408 JSRD patients representative of all clinical subgroups and 75 MKS fetuses. We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation frequency among JSRD. The most common clinical presentation among mutated families (7/11, 64%) was Joubert syndrome with ocular involvement (either progressive retinopathy and/or colobomas), while the remaining cases had pure JS. Kidney, liver and skeletal involvement were not observed. None of the MKS fetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus.

A Cretaceous eutriconodont and integument evolution in early mammals.

PubMed

Martin, Thomas; Marugán-Lobón, Jesús; Vullo, Romain; Martín-Abad, Hugo; Luo, Zhe-Xi; Buscalioni, Angela D

2015-10-15

The Mesozoic era (252-66 million years ago), known as the domain of dinosaurs, witnessed a remarkable ecomorphological diversity of early mammals. The key mammalian characteristics originated during this period and were prerequisite for their evolutionary success after extinction of the non-avian dinosaurs 66 million years ago. Many ecomorphotypes familiar to modern mammal fauna evolved independently early in mammalian evolutionary history. Here we report a 125-million-year-old eutriconodontan mammal from Spain with extraordinary preservation of skin and pelage that extends the record of key mammalian integumentary features into the Mesozoic era. The new mammalian specimen exhibits such typical mammalian features as pelage, mane, pinna, and a variety of skin structures: keratinous dermal scutes, protospines composed of hair-like tubules, and compound follicles with primary and secondary hairs. The skin structures of this new Mesozoic mammal encompass the same combination of integumentary features as those evolved independently in other crown Mammalia, with similarly broad structural variations as in extant mammals. Soft tissues in the thorax and abdomen (alveolar lungs and liver) suggest the presence of a muscular diaphragm. The eutriconodont has molariform tooth replacement, ossified Meckel's cartilage of the middle ear, and specialized xenarthrous articulations of posterior dorsal vertebrae, convergent with extant xenarthran mammals, which strengthened the vertebral column for locomotion.

Quantitative Comparison of Retrosigmoid Intradural Suprameatal Approach and Retrosigmoid Transtentorial Approach: Implications for Tumors in the Petroclival Region

PubMed Central

Ambekar, Sudheer; Amene, Chiazo; Sonig, Ashish; Guthikonda, Bharat; Nanda, Anil

2013-01-01

Background Retrosigmoid transtentorial (RTT) and retrosigmoid intradural suprameatal (RISA) approaches have been used in the treatment of petroclival tumors. Objective To compare the area of exposure of brainstem and petroclival region obtained through RTT and RISA in cadaveric specimens. Methods Five cadaveric specimens with a total of 10 sides were analyzed. RTT and RISA were performed on five sides each. Brainstem and petroclival surface exposure were measured using both the approaches. These values were compared between the two approaches. Results Brainstem area exposure with RTT was 441 ± 63 mm2 and that with RISA was 311 ± 61 mm2. Student's t-test revealed that the difference was significant (p = 0.01). The area of petroclival exposure medial to the Meckel cave through RTT was 696 ± 57 mm2, and that through RISA was 716 ± 51 mm2 (p = 0.69). The area of brainstem exposure between V and VII-VII complex through RTT and RISA was 387 ± 86 mm2 and 378 ± 76 mm2 (p = 0.87). Conclusion The RTT approach is an excellent approach to ventrolateral brainstem and petroclival region. It provides greater superoventral exposure of the ventrolateral brainstem than RISA and provides similar petroclival exposure. PMID:24436928

The ciliopathy gene Rpgrip1l is essential for hair follicle development.

PubMed

Chen, Jiang; Laclef, Christine; Moncayo, Alejandra; Snedecor, Elizabeth R; Yang, Ning; Li, Li; Takemaru, Ken-Ichi; Paus, Ralf; Schneider-Maunoury, Sylvie; Clark, Richard A

2015-03-01

The primary cilium is essential for skin morphogenesis through regulating the Notch, Wnt, and hedgehog signaling pathways. Prior studies on the functions of primary cilia in the skin were based on the investigations of genes that are essential for cilium formation. However, none of these ciliogenic genes has been linked to ciliopathy, a group of disorders caused by abnormal formation or function of cilia. To determine whether there is a genetic and molecular link between ciliopathies and skin morphogenesis, we investigated the role of RPGRIP1L, a gene mutated in Joubert (JBTS) and Meckel (MKS) syndromes, two severe forms of ciliopathy, in the context of skin development. We found that RPGRIP1L is essential for hair follicle morphogenesis. Specifically, disrupting the Rpgrip1l gene in mice resulted in reduced proliferation and differentiation of follicular keratinocytes, leading to hair follicle developmental defects. These defects were associated with significantly decreased primary cilium formation and attenuated hedgehog signaling. In contrast, we found that hair follicle induction and polarization and the development of interfollicular epidermis were unaffected. This study indicates that RPGRIP1L, a ciliopathy gene, is essential for hair follicle morphogenesis likely through regulating primary cilia formation and the hedgehog signaling pathway.

Primary cilia maintain corneal epithelial homeostasis by regulation of the Notch signaling pathway

PubMed Central

Grisanti, Laura; Revenkova, Ekaterina; Gordon, Ronald E.

2016-01-01

Primary cilia have been linked to signaling pathways involved in cell proliferation, cell motility and cell polarity. Defects in ciliary function result in developmental abnormalities and multiple ciliopathies. Patients affected by severe ciliopathies, such as Meckel syndrome, present several ocular surface disease conditions of unclear pathogenesis. Here, we show that primary cilia are predominantly present on basal cells of the mouse corneal epithelium (CE) throughout development and in the adult. Conditional ablation of cilia in the CE leads to an increase in proliferation and vertical migration of basal corneal epithelial cells (CECs). A consequent increase in cell density of suprabasal layers results in a thicker than normal CE. Surprisingly, in cilia-deficient CE, cilia-mediated signaling pathways, including Hh and Wnt pathways, were not affected but the intensity of Notch signaling was severely diminished. Although Notch1 and Notch2 receptors were expressed normally, nuclear Notch1 intracellular domain (N1ICD) expression was severely reduced. Postnatal development analysis revealed that in cilia-deficient CECs downregulation of the Notch pathway precedes cell proliferation defects. Thus, we have uncovered a function of the primary cilium in maintaining homeostasis of the CE by balancing proliferation and vertical migration of basal CECs through modulation of Notch signaling. PMID:27122169

Anterior urethral valves: an uncommon cause of obstructive uropathy in children.

PubMed

Kibar, Yusuf; Coban, Hidayet; Irkilata, H Cem; Erdemir, Fikret; Seckin, Bedrettin; Dayanc, Murat

2007-10-01

Anterior urethral valves (AUV) are rare entities generally described in case reports. They are an uncommon cause of lower urinary tract obstruction in children and can be difficult to diagnose. In the present study, we present our experience in four children with AUV along with a literature review. We retrospectively identified four children with AUV presented between 1998 and 2005 at age 4-9 years. Hematuria, urinary tract infection and weak voiding stream were the most common symptoms. Voiding cystourethrography (VCUG) confirmed the diagnosis of AUV. On cystourethroscopy, cusp-like valves in the anterior urethra were seen in all children. Transurethral endoscopic resection of the valves was carried out in three children using a pediatric resectoscope. In one child with a massive anterior urethral diverticulum, open resection of the valve, diverticulectomy and urethroplasty were performed. All patients were cured, none had complications as a result of surgery, and all reported a normal urinary stream at follow-up. Children with poor stream and recurrent infections should be evaluated carefully and anterior urethral valves should be considered in differential diagnosis of obstructive lesions.

The pattern of a specimen of Pycnogonum litorale (Arthropoda, Pycnogonida) with a supernumerary leg can be explained with the "boundary model" of appendage formation

NASA Astrophysics Data System (ADS)

Scholtz, Gerhard; Brenneis, Georg

2016-02-01

A malformed adult female specimen of Pycnogonum litorale (Pycnogonida) with a supernumerary leg in the right body half is described concerning external and internal structures. The specimen was maintained in our laboratory culture after an injury in the right trunk region during a late postembryonic stage. The supernumerary leg is located between the second and third walking legs. The lateral processes connecting to these walking legs are fused to one large structure. Likewise, the coxae 1 of the second and third walking legs and of the supernumerary leg are fused to different degrees. The supernumerary leg is a complete walking leg with mirror image symmetry as evidenced by the position of joints and muscles. It is slightly smaller than the normal legs, but internally, it contains a branch of the ovary and a gut diverticulum as the other legs. The causes for this malformation pattern found in the Pycnogonum individual are reconstructed in the light of extirpation experiments in insects, which led to supernumerary mirror image legs, and the "boundary model" for appendage differentiation.

Waugh’s Syndrome: Blessing in Disguise

PubMed Central

Mohanty, Subrat K

2014-01-01

Waugh’s syndrome is the association between intestinal malrotion and intussusceptions. We report a case of Waugh’s syndrome in a one year old child who presented to us with acute bowel obstruction and bleeding per rectum. Due to malrotation, there was easy prolapsing of ileocolic region into the nonfixed ascending colon and the intussusceptum advanced into the descending colon and rectum without compromising vascularity of the bowel. In most of the cases the intussusceptum advancing into the rectum is associated with bowel gangrene even when ceacum is mobile. But in our case, mobile caecum with malrotation proved to be blessing in disguise in preventing such a complication. A Meckel’s diverticulum was also an incidental finding in this case. Waugh's syndrome is missed in cases of close reduction of intussusception and may be a reason for recurrence. Though a rare entity, the probability of Waugh’s syndrome should be kept in mind during surgery, during hydrostatic reduction of intussusceptions, and in case of recurrent ileocolic intussusceptions. PMID:25478404

High Cost of Hospitalization for Colonic Diverticular Bleeding Depended on Repeated Bleeding and Blood Transfusion: Analysis with Diagnosis Procedure Combination Data in Japan.

PubMed

Ito, Yoichiro; Sakata, Yasuhisa; Yoshida, Hisako; Nonaka, Sayuri; Fujii, Susumu; Tanaka, Yuichiro; Shirai, Shimpei; Takeshita, Eri; Akutagawa, Takashi; Kawakubo, Hiroharu; Yamamoto, Koji; Tsuruoka, Nanae; Shimoda, Ryo; Iwakiri, Ryuichi; Fujimoto, Kazuma

2017-01-01

Bleeding from a colonic diverticulum is serious in aged patients. The aim of this study was to determine the risk factors for high-cost hospitalization of colonic diverticular bleeding using the diagnosis procedure combination (DPC) data. From January 2009 to December 2015, 78 patients with colonic diverticular bleeding were identified by DPC data in Saga Medical School Hospital. All patients underwent colonic endoscopy within 3 days. The patients were divided into 2 groups: the low-cost group (DPC cost of <500,000 yen) and the high-cost group (DPC cost of >500,000 yen). Univariate analysis revealed that aging, hypertension, rebleeding, a low hemoglobin concentration at admission, and blood transfusion were risk factors for high hospitalization cost. Multivariate analysis revealed that rebleeding (OR 5.3; 95% CI 1.3-21.3; p = 0.017) and blood transfusion (OR 3.8; 95% CI 1.01-14.2; p = 0.048) were definite risk factors for high hospitalization cost. Rebleeding and blood transfusion were related to high hospitalization cost for colonic diverticular bleeding. © 2017 S. Karger AG, Basel.

Spastic paraparesis as a complication of percutaneous nephrolithothripsy (PNL) on a calyceal calculus of the left kidney.

PubMed

Pellegrinelli, Moira; Castiglioni, Claudia; Morini, Osvaldo; Franzini, Aldo

2007-12-01

A patient developed spastic paraparesis after surgery with ultrasound lithothripsy and litholapaxy of fragments of a renal calyceal calculus in middle-upper diverticulum. It was first assumed that the event could be due to transient spinal ischemia, caused by vasospasm of Adamkiewicz artery, secondary to blood engorgement of the area around the vessel. In order to clarify possible implications of medical liability, the Authors took into account the etio-pathogenetic mechanisms of the complication and analyzed the medico-legal aspects, with particular reference to the indication for surgery, which was not absolute in the case under scrutiny. In connection with the latter aspect, the Authors considered the conclusions of a recent sentence of the Court of Milan, whereby, despite the negative opinion of the experts specifically appointed, a case of medical liability was identified as a consequence of algodystrophy resulting from a cardiosurgical intervention. According to the Court, it is for the medical staff to demonstrate that they did all they could to prevent the complication and that such complication did not arise from a mistake on their part.

First records of Enchytraeidae (Annelida, Clitellata) from the Three Parallel Rivers region.

PubMed

Chen, Jing; Jiang, Wanxiang; Xie, Zhicai

2016-03-21

The Three Parallel Rivers region is not only an important World Natural Heritage area but also one of the hotspots of world biodiversity with many endemic organisms. However, little is known about the soil fauna of this region, and nothing about enchytraeids. Here we describe two species from the Laojun Mountain, one of the eight eminent mountain chains in this region, Chamaedrilus cf. ozensis Torii, 2015 and Mesenchytraeus laojunensis sp. nov. The latter belongs to a group of Mesenchytraeus species characterized by spermathecae with one ampullar diverticulum and a communication with the oesophagus, and is thus far the southernmost member of this genus in China. It has two exceptional traits within Mesenchytraeus: a large sperm funnel (more than 2000 µm in length) and a subterminal attachment of the vas deferens to the atrium. In addition, it is distinguished from the other congeners within this group by coelomocytes with distinct refractile vesicles, five pairs of preclitellar nephridia, and the presence of abundant and flame-shaped sperm bundles in sperm sacs, which extend backwards into XVII-XXII.

The Manifestation of Vortical and Secondary Flow in the Cerebral Venous Outflow Tract: An In Vivo MR Velocimetry Study

PubMed Central

Kefayati, Sarah; Amans, Matthew; Faraji, Farshid; Ballweber, Megan; Kao, Evan; Ahn, Sinyeob; Meisel, Karl; Halbach, Van; Saloner, David

2016-01-01

Aberrations in flow in the cerebral venous outflow tract (CVOT) have been implicated as the cause of several pathologic conditions including idiopathic intracranial hypertension (IIH), multiple sclerosis (MS), and pulsatile tinnitus (PT). The advent of 4D Flow magnetic resonance imaging (4D-Flow MRI) has recently allowed researchers to evaluate blood flow patterns in the arterial structures with great success. We utilized similar imaging techniques and found several distinct flow characteristics in the CVOT of subjects with and without lumenal irregularities. We present the flow patterns of 8 out of 38 subjects who have varying heights of the internal jugular bulb and varying lumenal irregularities including stenosis and diverticulum. In the internal jugular vein (IJV) with an elevated jugular bulb (JB), 4DFlow MRI revealed a characteristic spiral flow that was dependent on the level of JB elevation. Vortical flow was also observed in the diverticula of the venous sinuses and IJV. The diversity of flow complexity in the CVOT illustrates the potential importance of hemodynamic investigations in elucidating venous pathologies. PMID:27894675

Detailed evaluation of the upper urinary tract in patients with prune belly syndrome using magnetic resonance urography.

PubMed

Garcia-Roig, M L; Grattan-Smith, J D; Arlen, A M; Smith, E A; Kirsch, A J

2016-04-01

Magnetic resonance urography (MRU) has proven to be useful in the setting of complex urologic anatomy. Prune belly syndrome (PBS) patients are known to have malformed and highly variable urinary tract anatomy due to significant dilation and renal dysplasia. To further characterize the renal and ureteral anatomy and renal function in patients with PBS via MRU. Children with PBS undergoing MRU (2006-2011) were identified. Studies were performed to evaluate severe hydronephrosis in all patients. Demographics, previous imaging, and MRU findings were collected. A single radiologist reviewed all studies. MRU was performed on 13 boys, with a median age of 29.3 months (IQR 6-97). Two patients underwent >1 study for ureteropelvic junction obstruction (UPJ obstruction) and calyceal diverticulum with a solitary kidney, respectively. Hydroureteronephrosis (HUN) was identified in 12 boys (92%), while one (8%) did not have ureteral dilation. All patients demonstrated morphologic abnormalities beyond HUN as follows: five (38%) renal dysplasia; five (38%) scarring; four (31%) calyceal diverticula; and three (23%) thickened bladder. The median renal transit time (RTT) was 6 min (IQR 3.5-10.5), and >8 min (range 8.5-35) in six patients; one patient was ultimately diagnosed with obstruction. The mean serum creatinine was 0.5 ± 0.3 mg/dl. This summary figure is a coronal excretory phase T1 MRU image demonstrating absence of well-defined calyces and a 5-cm calyceal diverticulum (white arrow). This study reports significant anatomic and functional findings on MRU that were not readily apparent when using standard imaging for children with PBS. The high-resolution images and functional data obtained with MRU allowed for visualization of calyceal diverticula and abnormal renal pelvic anatomy not previously described in PBS. In addition, renal dysplasia could be identified with MRU, which is badly characterized in the PBS population outside of renal biopsy studies. Potential limitations

Genetic, chromosomal, and syndromic causes of neural tube defects.

PubMed

Seidahmed, Mohammed Z; Abdelbasit, Omer B; Shaheed, Meeralebbae M; Alhussein, Khalid A; Miqdad, Abeer M; Samadi, Abdulmohsen S; Khalil, Mohammed I; Al-Mardawi, Elham; Salih, Mustafa A

2014-12-01

To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions.

Associated malformations among infants with anophthalmia and microphthalmia.

PubMed

Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

2012-03-01

Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births. Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel-Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions. The frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations-especially musculoskeletal, cardiac, and central nervous system anomalies-may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted. Copyright © 2012 Wiley Periodicals, Inc.

Description of the chondrocranium and osteogenesis of the Chacoan burrowing frog, Chacophrys pierotti (Anura: Leptodactylidae).

PubMed

Wild, E R

1999-12-01

The larval chondrocranium of the large-headed leptodactylid frog, Chacophrys pierotti (Ceratophryinae), is described in detail. Descriptions include the ontogeny of the chondrocranium and osteogenesis of the cranial skeleton. The chondrocranium of C. pierotti is profoundly different from the chondrocrania previously described for the other genera of the Ceratophryinae (Ceratophrys and Lepidobatrachus). The chondrocranium of Chacophrys is longer than wide and not particularly robust or laterally expanded; that of Ceratophrys is very robust, whereas the chondrocranium of Lepidobatrachus is widely expanded laterally. These differences are particularly apparent in the elements associated with the jaw (i.e., suprarostral, infrarostral, Meckel's cartilage, palatoquadrate, cornua trabeculae), which are robust in Ceratophrys and thin and elongate in Lepidobatrachus. Unlike Ceratophrys and Lepidobatrachus, which possess highly specialized carnivorous larva, the chondrocranium of Chacophrys more closely resembles the typical microphagous herbivore morphology characteristic of other leptodactylid frogs for which the chondrocrania are known. These data suggest that Chacophrys is the basal taxon within the monophyletic Ceratophryinae. The ontogeny of the chondrocranium of Chacophrys, as well as the cranial ossification sequence, do not differ greatly from those described for Ceratophrys. Detailed descriptions of the ontogeny of the chondrocranium and the bony skeleton are needed for additional taxa within the Ceratophryinae (especially Lepidobatrachus). Such descriptive ontogenetic studies promise new insight into the phylogeny and morphological evolution of this remarkable group of large-headed frogs. Copyright 1999 Wiley-Liss, Inc.

C2cd3 is required for cilia formation and Hedgehog signaling in mouse

PubMed Central

Hoover, Amber N.; Wynkoop, Aaron; Zeng, Huiqing; Jia, Jinping; Niswander, Lee A.; Liu, Aimin

2011-01-01

Cilia are essential for mammalian embryonic development as well as for the physiological activity of various adult organ systems. Despite the multiple crucial roles that cilia play, the mechanisms underlying ciliogenesis in mammals remain poorly understood. Taking a forward genetic approach, we have identified Hearty (Hty), a recessive lethal mouse mutant with multiple defects, including neural tube defects, abnormal dorsal-ventral patterning of the spinal cord, a defect in left-right axis determination and severe polydactyly (extra digits). By genetic mapping, sequence analysis of candidate genes and characterization of a second mutant allele, we identify Hty as C2cd3, a novel gene encoding a vertebrate-specific C2 domain-containing protein. Target gene expression and double-mutant analyses suggest that C2cd3 is an essential regulator of intracellular transduction of the Hedgehog signal. Furthering a link between Hedgehog signaling and cilia function, we find that cilia formation and proteolytic processing of Gli3 are disrupted in C2cd3 mutants. Finally, we observe C2cd3 protein at the basal body, consistent with its essential function in ciliogenesis. Interestingly, the human ortholog for this gene lies in proximity to the critical regions of Meckel-Gruber syndrome 2 (MKS2) and Joubert syndrome 2 (JBTS2), making it a potential candidate for these two human genetic disorders. PMID:19004860

Autosomal recessive disorders among Arabs: an overview from Kuwait.

PubMed Central

Teebi, A S

1994-01-01

Kuwait has a cosmopolitan population of 1.7 million, mostly Arabs. This population is a mosaic of large and small minorities representing most Arab communities. In general, Kuwait's population is characterized by a rapid rate of growth, large family size, high rates of consanguineous marriages within the Arab communities with low frequency of intermarriage between them, and the presence of genetic isolates and semi-isolates in some extended families and Bedouin tribes. Genetic services have been available in Kuwait for over a decade. During this time it has become clear that Arabs have a high frequency of genetic disorders, and in particular autosomal recessive traits. Their pattern is unique and some disorders are relatively common. Examples are Bardet-Biedl and Meckel syndromes, phenylketonuria, and familial Mediterranean fever. A relatively large number of new syndromes and variants have been delineated in Kuwait's population, many being the result of homozygosity for autosomal recessive genes that occurred because of inbreeding. Some of these syndromes have subsequently been found in other parts of the world, negating the concept of the private syndrome. This paper provides an overview of autosomal recessive disorders among the Arabs in Kuwait from a personal perspective and published studies, and highlights the need for genetic services in Arab countries with the goal of prevention and treatment of genetic disorders. PMID:8014972

Anatomical nuances of the internal carotid artery in relation to the quadrangular space.

PubMed

Dolci, Ricardo L L; Ditzel Filho, Leo F S; Goulart, Carlos R; Upadhyay, Smita; Buohliqah, Lamia; Lazarini, Paulo R; Prevedello, Daniel M; Carrau, Ricardo L

2018-01-01

OBJECTIVE The aim of this study was to evaluate the anatomical variations of the internal carotid artery (ICA) in relation to the quadrangular space (QS) and to propose a classification system based on the results. METHODS A total of 44 human cadaveric specimens were dissected endonasally under direct endoscopic visualization. During the dissection, the anatomical variations of the ICA and their relationship with the QS were noted. RESULTS The space between the paraclival ICAs (i.e., intercarotid space) can be classified as 1 of 3 different shapes (i.e., trapezoid, square, or hourglass) based on the trajectory of the ICAs. The ICA trajectories also directly influence the volumetric area of the QS. Based on its geometry, the QS was classified as one of the following: 1) Type A has the smallest QS area and is associated with a trapezoid intercarotid space, 2) Type B corresponds to the expected QS area (not minimized or enlarged) and is associated with a square intercarotid space, and 3) Type C has the largest QS area and is associated with an hourglass intercarotid space. CONCLUSIONS The different trajectories of the ICAs can modify the area of the QS and may be an essential parameter to consider for preoperative planning and defining the most appropriate corridor to reach Meckel's cave. In addition, ICA trajectories should be considered prior to surgery to avoid injuring the vessels.

Clinical and molecular features of Joubert syndrome and related disorders

PubMed Central

Parisi, Melissa A.

2009-01-01

Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least 8 genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium. PMID:19876931

Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance

PubMed Central

Jensen, Victor L; Li, Chunmei; Bowie, Rachel V; Clarke, Lara; Mohan, Swetha; Blacque, Oliver E; Leroux, Michel R

2015-01-01

Cilia are thought to harbour a membrane diffusion barrier within their transition zone (TZ) that compartmentalises signalling proteins. How this “ciliary gate” assembles and functions remains largely unknown. Contrary to current models, we present evidence that Caenorhabditis elegans MKS-5 (orthologue of mammalian Mks5/Rpgrip1L/Nphp8 and Rpgrip1) may not be a simple structural scaffold for anchoring > 10 different proteins at the TZ, but instead, functions as an assembly factor. This activity is needed to form TZ ultrastructure, which comprises Y-shaped axoneme-to-membrane connectors. Coiled-coil and C2 domains within MKS-5 enable TZ localisation and functional interactions with two TZ modules, consisting of Meckel syndrome (MKS) and nephronophthisis (NPHP) proteins. Discrete roles for these modules at basal body-associated transition fibres and TZ explain their redundant functions in making essential membrane connections and thus sealing the ciliary compartment. Furthermore, MKS-5 establishes a ciliary zone of exclusion (CIZE) at the TZ that confines signalling proteins, including GPCRs and NPHP-2/inversin, to distal ciliary subdomains. The TZ/CIZE, potentially acting as a lipid gate, limits the abundance of the phosphoinositide PIP2 within cilia and is required for cell signalling. Together, our findings suggest a new model for Mks5/Rpgrip1L in TZ assembly and function that is essential for establishing the ciliary signalling compartment. PMID:26392567

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

PubMed Central

Bergmann, Carsten; Fliegauf, Manfred; Brüchle, Nadina Ortiz; Frank, Valeska; Olbrich, Heike; Kirschner, Jan; Schermer, Bernhard; Schmedding, Ingolf; Kispert, Andreas; Kränzlin, Bettina; Nürnberg, Gudrun; Becker, Christian; Grimm, Tiemo; Girschick, Gundula; Lynch, Sally A.; Kelehan, Peter; Senderek, Jan; Neuhaus, Thomas J.; Stallmach, Thomas; Zentgraf, Hanswalter; Nürnberg, Peter; Gretz, Norbert; Lo, Cecilia; Lienkamp, Soeren; Schäfer, Tobias; Walz, Gerd; Benzing, Thomas; Zerres, Klaus; Omran, Heymut

2008-01-01

Many genetic diseases have been linked to the dysfunction of primary cilia, which occur nearly ubiquitously in the body and act as solitary cellular mechanosensory organelles. The list of clinical manifestations and affected tissues in cilia-related disorders (ciliopathies) such as nephronophthisis is broad and has been attributed to the wide expression pattern of ciliary proteins. However, little is known about the molecular mechanisms leading to this dramatic diversity of phenotypes. We recently reported hypomorphic NPHP3 mutations in children and young adults with isolated nephronophthisis and associated hepatic fibrosis or tapetoretinal degeneration. Here, we chose a combinatorial approach in mice and humans to define the phenotypic spectrum of NPHP3/Nphp3 mutations and the role of the nephrocystin-3 protein. We demonstrate that the pcy mutation generates a hypomorphic Nphp3 allele that is responsible for the cystic kidney disease phenotype, whereas complete loss of Nphp3 function results in situs inversus, congenital heart defects, and embryonic lethality in mice. In humans, we show that NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects comprising situs inversus, polydactyly, central nervous system malformations, structural heart defects, preauricular fistulas, and a wide range of congenital anomalies of the kidney and urinary tract (CAKUT). On the functional level, we show that nephrocystin-3 directly interacts with inversin and can inhibit like inversin canonical Wnt signaling, whereas nephrocystin-3 deficiency leads in Xenopus laevis to typical planar cell polarity defects, suggesting a role in the control of canonical and noncanonical (planar cell polarity) Wnt signaling. PMID:18371931

[Phylogenetic analysis and expression patterns of tropomyosin in amphioxus].

PubMed

Li, Xin-Yi; Lin, Yu-Shuang; Zhang, Hong-Wei

2012-08-01

In amphioxus, we found a mesoderm related gene, tropomyosin, which encodes a protein comprising 284 amino acid residues, sharing high identities with other known Tropomyosin proteins both in vertebrates and invertebrates. Phylogenetically, amphioxus Tropomyosin fell outside the invertebrate clade and was at the base of the vertebrate protein family clade, indicating that it may represent an independent branch. From the early neurula to the larva stage, whole-mount in situ hybridization and histological sections found transcripts of amphioxus tropomyosin gene. Weak tropomyosin expression was first detected in the wall of the archenteron at about 10 hours-post-fertilization neurula stage, while intense expression was revealed in the differentiating presumptive notochord and the muscle. Transcripts of tropomyosin were then expressed in the formed notochord and somites. Gene expression seemed to continue in these developing organs throughout the neurular stages and remained till 72-hours, during the early larval stages. In situ study still showed tropomyosin was also expressed in the neural tube, hepatic diverticulum, notochord and the spaces between myotomes in adult amphioxus. Our results indicated that tropomyosin may play an important role in both embryonic development and adult life.

Postoperative vesicoureteral reflux after high-pressure balloon dilation of the ureterovesical junction in primary obstructive megaureter. Incidence, management and predisposing factors.

PubMed

García-Aparicio, Luis; Blázquez-Gómez, Eva; de Haro, Irene; Garcia-Smith, Natalie; Bejarano, Miguel; Martin, Oriol; Rodo, Joan

2015-12-01

To describe the incidence, predisposing factors and management of postoperative vesicoureteral reflux (VUR) after high-pressure balloon dilation to treat primary obstructive megaureter (POM). We have reviewed patients that underwent endoscopic treatment for POM from May 2008 to November 2013. All patients were evaluated with renal ultrasound, voiding cystourethrography and diuretic renogram. Endoscopic treatment was done with high-pressure balloon dilation of the ureterovesical junction under general anesthesia; a double-J stenting was done in all patients. Follow-up was performed with ultrasonography, voiding cystourethrography and a diuretic renogram in all patients. Fifteen boys and five girls with a mean age of 14.18 months (3-103) were reviewed. A total of 22 ureters underwent HPBD to treat POM. Ureterohydronephrosis improves in 19 ureters. After endoscopic treatment, six ureters developed VUR. Four ureters were managed surgically, and in the other two, VUR disappeared in a second cystogram. The presence of parameatal diverticulum in the preoperative cystography and those patients with bilateral POM are factors related to postoperative VUR (p < 0.05). Urinary tract infection after HPBD was observed in four patients, but only one of them was affected with VUR.

[Intradiverticular bladder tumours: review of the Cancer Committee of the French Association of Urology].

PubMed

Neuzillet, Y; Comperat, E; Rouprêt, M; Larre, S; Roy, C; Quintens, H; Houede, N; Pignot, G; Wallerand, H; Soulie, M; Pfister, C

2012-07-01

Cancer Committee of the French Association of Urology (CCAFU) conducted a review of the epidemiology, diagnosis and treatment of intradiverticular bladder tumours (TVID) and proposed therapeutic management. A bibliographic research in French and English using Medline(®) with the keywords "tumor", "bladder" and "diverticulum" was performed. TVID are more frequently of stage T ≥ 3a and with non urothelial histology than classical bladder tumors. At diagnosis, the risk of underestimation of the extent and multifocality of the tumor was described. Their prognosis, that was more pejorative than conventional tumors, should impelled to limit the indications of conservative treatment. The evidence levels of analyzed publications were low, with C level according to Sackett score. the specificities of the TVID have lead the CCAFU to propose specific therapeutic guidelines, based on poor evidence level. Ta-T1 low grade TVID can be treated by transurethral resection alone or followed by BCG therapy in cases of associated carcinoma in situ. High-grade TVID, unifocal and without associated carcinoma in situ, can be treated by diverticulectomy associated with pelvic lymphadenectomy. High grade TVID, multiple or associated with carcinoma in situ, warranted total cystectomy. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Aberrant left subclavian artery occlusion in right-sided aortic artery associated with left cerebral infarction: A case report.

PubMed

Tempaku, Akira; Kuroiwa, Terumasa; Nishio, Akimasa

2018-06-01

Purpose Right-sided aortic arch is a rare vessel anomaly with an incidence of 0.1% worldwide. Supra-aortic branches form a mirror image of the left-sided aortic arch or an aberrant left subclavian artery associated with Kommerell diverticulum. Most patients are diagnosed by a difference in blood pressure in each upper extremity or by the presence of left subclavian steal syndrome in their younger age. The diagnosis of onset of ischemic stroke in middle age is rare. Methods We present the case of a female patient who presented with an ischemic stroke in the left posterior circulation area. She had no history of congenital heart malformation. We performed head magnetic resonance imaging, cerebral angiography, and enhanced computed tomography of the aortic arch and major branches. Results The patient had a right-sided aortic arch and an aberrant left subclavian artery. The left subclavian artery was occluded at the proximal portion with a fibrous string. Collateral flow in the anterior cervical subcutaneous area supported left limb perfusion. Conclusion An atheromatous change reduced shunt flow via collateral networks at the anterior cervical region. Congenital subclavian steal supported the ischemic stroke.

In Vitro MRV-based Hemodynamic Study of Complex Helical Flow in a Patient-specific Jugular Model

NASA Astrophysics Data System (ADS)

Kefayati, Sarah; Acevedo-Bolton, Gabriel; Haraldsson, Henrik; Saloner, David

2014-11-01

Neurointerventional Radiologists are frequently requested to evaluate the venous side of the intracranial circulation for a variety of conditions including: Chronic Cerebrospinal Venous Insufficiency thought to play a role in the development of multiple sclerosis; sigmoid sinus diverticulum which has been linked to the presence of pulsatile tinnitus; and jugular vein distension which is related to cardiac dysfunction. Most approaches to evaluating these conditions rely on structural assessment or two dimensional flow analyses. This study was designed to investigate the highly complex jugular flow conditions using magnetic resonance velocimetry (MRV). A jugular phantom was fabricated based on the geometry of the dominant jugular in a tinnitus patient. Volumetric three-component time-resolved velocity fields were obtained using 4D PC-MRI -with the protocol enabling turbulence acquisition- and the patient-specific pulsatile waveform. Flow was highly complex exhibiting regions of jet, high swirling strength, and strong helical pattern with the core originating from the focal point of the jugular bulb. Specifically, flow was analyzed for helicity and the level of turbulence kinetic energy elevated in the core of helix and distally, in the post-narrowing region.

'Caterpillar right ventricle': unusual manifestation of a rare disease.

PubMed

Kalliath, Suneesh; Rajesh, Gopalan Nair

2017-01-01

A 66-year-old man presented with abdominal distension and pedal oedema for the past 10 years. He had history of right heart failure on several occasions in the past, and one of these admissions prompted referral to a cardiac specialist. On examination, he had markedly elevated jugular venous pressure with prominent 'y-descent', a tricuspid regurgitation murmur, gross ascites and pedal oedema. A full blood count, routine biochemical screen and serum bicarbonate levels were normal. Right ventricular angiogram revealed a 'caterpillar'-like aneurysm of the right ventricle (RV) apex (figure 1 arrow) with a dilated right ventricular outflow tract and significant tricuspid regurgitation with a dilated right atrium (see online supplementary video 1). Figure 1 A cine angiographic frame of the right ventricle in posteroanterior view, showing a 'caterpillar'-like right ventricle aneurysm (arrow). 10.1136/heartasia-2017-010957.supp3Supplementary file 3. On the basis of the clinical and right ventriculography features, what is the most likely diagnosis for this patient?Arrhythmogenic right ventricular cardiomyopathy (ARVC)Right ventricular endomyocardial fibrosis (RV-EMF) with an RV aneurysmCardiac sarcoidosisCongenital diverticulum of the right ventricle.

[Use of high frequency cinematography in diagnosis of globus sensation].

PubMed

Alberty, J; Oelerich, M

1996-09-01

Globus pharyngis is a frequent symptom in patients who consult an otolaryngologist. In many cases, routine diagnostic work-up including history, clinical examination, and barium swallow fail to revealing the underlying pathogenesis. In a retrospective study, we present 51 selected patients suffering from globus pharyngis of unknown origin who were investigated by high-speed cineradiography in a standardized manner. Twenty-four of the patients enrolled in the study (47.1%) showed functional and/or structural swallowing disorders. In 13 cases (25.5%) dyskinesias of the superior esophagus sphincter muscle were found. Five of these patients (9.8%) also had an inconstant hypopharyngeal diverticulum. Six cases (11.8%) showed laryngeal penetration or tracheal aspiration. In four cases (7.8%) functional disorders of pharyngeal, and in three cases (5.9%) functional disorders of oral bolus transport were found. Furthermore one hypopharyngeal web (1.9%) and two benign tumors (3.9%) were detected. In many cases, varying combinations of these findings occurred. Using high-speed cineradiography for evaluation of globus pharyngis results in an increased incidence of pathologic findings, and thus is an important method for interdisciplinary diagnostic work up of patients suffering from this symptom.

High resolution manometry findings in patients with esophageal epiphrenic diverticula.

PubMed

Vicentine, Fernando P P; Herbella, Fernando A M; Silva, Luciana C; Patti, Marco G

2011-12-01

The pathophysiology of esophageal epiphrenic diverticula is still uncertain even though a concomitant motility disorder is found in the majority of patients in different series. High resolution manometry may allow detection of motor abnormalities in a higher number of patients with esophageal epiphrenic diverticula compared with conventional manometry. This study aims to evaluate the high resolution manometry findings in patients with esophageal epiphrenic diverticula. Nine individuals (mean age 63 ± 10 years, 4 females) with esophageal epiphrenic diverticula underwent high resolution manometry. A single diverticulum was observed in eight patients and multiple diverticula in one. Visual analysis of conventional tracings and color pressure plots for identification of segmental abnormalities was performed by two researchers experienced in high resolution manometry. Upper esophageal sphincter was normal in all patients. Esophageal body was abnormal in eight patients; lower esophageal sphincter was abnormal in seven patients. Named esophageal motility disorders were found in seven patients: achalasia in six, diffuse esophageal spasm in one. In one patient, a segmental hypercontractile zone was noticed with pressure of 196 mm Hg. High resolution manometry demonstrated motor abnormalities in all patients with esophageal epiphrenic diverticula.

Comparison of carbon dioxide laser-assisted versus stapler-assisted endoscopic cricopharyngeal myotomy.

PubMed

Pollei, Taylor R; Hinni, Michael L; Hayden, Richard E; Lott, David G; Mors, Matthew B

2013-09-01

We directly compared endoscopic carbon dioxide (CO2) laser and stapler treatment methods for both cricopharyngeal hypertrophy (CPH) and Zenker's diverticulum (ZD). We performed a single-institution retrospective chart review of 153 patients who underwent either CO2 laser-assisted or stapler-assisted endoscopic cricopharyngeal myotomy (CPM). Isolated CPH was more likely to be treated with the CO2 laser than by stapler techniques. The ZD pouch size decreased significantly after surgery in both laser (p = 0.04) and stapler (p = 0.008) groups. The average duration of the procedure for CPM was longer for the laser than for the stapler (p = 0.01). Both techniques were successful when used in revision procedures. The overall complication rates were not statistically significantly different. Laser surgery trended toward a higher rate of major complications (2.4% versus 0%). Symptomatic recurrence was more likely after stapler surgery (p = 0.002). The rates of revision surgery were similar in the two groups (3.3% for laser and 4.3% for stapler). In the treatment of isolated CPH or ZD, stapler-assisted endoscopic surgery results in a shorter operative time, whereas laser-assisted CPM results in a decreased incidence of symptomatic recurrence.

Evaluation of cardiovascular anomalies in patients with asymptomatic turner syndrome using multidetector computed tomography.

PubMed

Lee, Sun Hee; Jung, Ji Mi; Song, Min Seob; Choi, Seok jin; Chung, Woo Yeong

2013-08-01

Turner syndrome is well known to be associated with significant cardiovascular abnormalities. This paper studied the incidence of cardiovascular abnormalities in asymptomatic adolescent patients with Turner syndrome using multidetector computed tomography (MDCT) instead of echocardiography. Twenty subjects diagnosed with Turner syndrome who had no cardiac symptoms were included. Blood pressure and electrocardiography (ECG) was checked. Cardiovascular abnormalities were checked by MDCT. According to the ECG results, 11 had a prolonged QTc interval, 5 had a posterior fascicular block, 3 had a ventricular conduction disorder. MDCT revealed vascular abnormalities in 13 patients (65%). Three patients had an aberrant right subclavian artery, 2 had dilatation of left subclavian artery, and others had an aortic root dilatation, aortic diverticulum, and abnormal left vertebral artery. As for venous abnormalities, 3 patients had partial anomalous pulmonary venous return and 2 had a persistent left superior vena cava. This study found cardiovascular abnormalities in 65% of asymptomatic Turner syndrome patients using MDCT. Even though, there are no cardiac symptoms in Turner syndrome patients, a complete evaluation of the heart with echocardiography or MDCT at transition period to adults must be performed.

Percutaneous trans-papillary elimination of common bile duct stones using an existing gallbladder drain for access.

PubMed

Atar, Eli; Neiman, Chaim; Ram, Eduard; Almog, Mazal; Gadiel, Itai; Belenky, Alexander

2012-06-01

The presence of stones in the common bile duct (CBD) may cause complications such as obstructing jaundice or ascending cholangitis, and the stones should be removed. To assess the efficacy of percutaneous elimination of CBD stones from the gallbladder through the papilla. During a 4 year period, six patients (five men and one woman, mean age 71.5 years) who had CBD stones and an existing gallbladder drain underwent percutaneous stone push into the duodenum after balloon dilatation of the papilla, with a diameter equal to that of the largest stone. Access into the CBD was from the gallbladder, using an already existing percutaneous gallbladder drain (cholecystostomy tube). Each patient had one to three CBD stones measuring 7-14 mm. Successful CBD stone elimination into the duodenum was achieved in five of the six patients. The single failure occurred in a patient with choledochal diverticulum, who was operated successfully. There were no major or minor complications during or after the procedures. Trans-cholecystic CBD stone elimination is a safe and feasible percutaneous technique that utilizes existing tracts, thus obviating the need to create new percutaneous access. This procedure can replace endoscopic or surgical CBD exploration.

NDRC: A Disease-Causing Genes Prioritized Method Based on Network Diffusion and Rank Concordance.

PubMed

Fang, Minghong; Hu, Xiaohua; Wang, Yan; Zhao, Junmin; Shen, Xianjun; He, Tingting

2015-07-01

Disease-causing genes prioritization is very important to understand disease mechanisms and biomedical applications, such as design of drugs. Previous studies have shown that promising candidate genes are mostly ranked according to their relatedness to known disease genes or closely related disease genes. Therefore, a dangling gene (isolated gene) with no edges in the network can not be effectively prioritized. These approaches tend to prioritize those genes that are highly connected in the PPI network while perform poorly when they are applied to loosely connected disease genes. To address these problems, we propose a new disease-causing genes prioritization method that based on network diffusion and rank concordance (NDRC). The method is evaluated by leave-one-out cross validation on 1931 diseases in which at least one gene is known to be involved, and it is able to rank the true causal gene first in 849 of all 2542 cases. The experimental results suggest that NDRC significantly outperforms other existing methods such as RWR, VAVIEN, DADA and PRINCE on identifying loosely connected disease genes and successfully put dangling genes as potential candidate disease genes. Furthermore, we apply NDRC method to study three representative diseases, Meckel syndrome 1, Protein C deficiency and Peroxisome biogenesis disorder 1A (Zellweger). Our study has also found that certain complex disease-causing genes can be divided into several modules that are closely associated with different disease phenotype.

Mechanics of membrane-cytoskeleton attachment in Paramecium

NASA Astrophysics Data System (ADS)

Campillo, C.; Jerber, J.; Fisch, C.; Simoes-Betbeder, M.; Dupuis-Williams, P.; Nassoy, P.; Sykes, C.

2012-12-01

In this paper we assess the role of the protein MKS1 (Meckel syndrome type 1) in the cortical membrane mechanics of the ciliated protist Paramecium. This protein is known to be crucial in the process of cilium formation, and we investigate its putative role in membrane-cytoskeleton attachment. Therefore, we compare cells where the gene coding for MKS1 is silenced to wild-type cells. We found that scanning electron microscopy observation of the cell surface reveals a cup-like structure in wild-type cells that is lost in silenced cells. Since this structure is based on the underlying cytoskeleton, one hypothesis to explain this observation is a disruption of membrane attachment to the cytoskeleton in the absence of MKS1 that should affect plasma membrane mechanics. We test this by probing the mechanics of wild-type and silenced cells by micropipette aspiration. Strikingly, we observe that, at the same aspiration pressure, the membrane of silenced cells is easily aspirated by the micropipette whereas that of wild-type cells enters only at a moderate velocity, an effect that suggests a detachment of the membrane from the underlying cytoskeleton in silenced cells. We quantify this detachment by measuring the deformation of the cell cortex and the rate of cell membrane entry in the micropipette. This study offers a new perspective for the characterization of membrane-cytoskeleton attachment in protists and paves the way for a better understanding of the role of membrane-cortex attachment in cilium formation.

Ectopic application of recombinant BMP-2 and BMP-4 can change patterning of developing chick facial primordia.

PubMed

Barlow, A J; Francis-West, P H

1997-01-01

The facial primordia initially consist of buds of undifferentiated mesenchyme, which give rise to a variety of tissues including cartilage, muscle and nerve. These must be arranged in a precise spatial order for correct function. The signals that control facial outgrowth and patterning are largely unknown. The bone morphogenetic proteins Bmp-2 and Bmp-4 are expressed in discrete regions at the distal tips of the early facial primordia suggesting possible roles for BMP-2 and BMP-4 during chick facial development. We show that expression of Bmp-4 and Bmp-2 is correlated with the expression of Msx-1 and Msx-2 and that ectopic application of BMP-2 and BMP-4 can activate Msx-1 and Msx-2 gene expression in the developing facial primordia. We correlate this activation of gene expression with changes in skeletal development. For example, activation of Msx-1 gene expression across the distal tip of the mandibular primordium is associated with an extension of Fgf-4 expression in the epithelium and bifurcation of Meckel's cartilage. In the maxillary primordium, extension of the normal domain of Msx-1 gene expression is correlated with extended epithelial expression of shh and bifurcation of the palatine bone. We also show that application of BMP-2 can increase cell proliferation of the mandibular primordia. Our data suggest that BMP-2 and BMP-4 are part of a signalling cascade that controls outgrowth and patterning of the facial primordia.

Functional Redundancy of the B9 Proteins and Nephrocystins in Caenorhabditis elegans Ciliogenesis

PubMed Central

Williams, Corey L.; Winkelbauer, Marlene E.; Schafer, Jenny C.; Michaud, Edward J.

2008-01-01

Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and Joubert syndrome (JBTS) are a group of heterogeneous cystic kidney disorders with partially overlapping loci. Many of the proteins associated with these diseases interact and localize to cilia and/or basal bodies. One of these proteins is MKS1, which is disrupted in some MKS patients and contains a B9 motif of unknown function that is found in two other mammalian proteins, B9D2 and B9D1. Caenorhabditis elegans also has three B9 proteins: XBX-7 (MKS1), TZA-1 (B9D2), and TZA-2 (B9D1). Herein, we report that the C. elegans B9 proteins form a complex that localizes to the base of cilia. Mutations in the B9 genes do not overtly affect cilia formation unless they are in combination with a mutation in nph-1 or nph-4, the homologues of human genes (NPHP1 and NPHP4, respectively) that are mutated in some NPHP patients. Our data indicate that the B9 proteins function redundantly with the nephrocystins to regulate the formation and/or maintenance of cilia and dendrites in the amphid and phasmid ciliated sensory neurons. Together, these data suggest that the human homologues of the novel B9 genes B9D2 and B9D1 will be strong candidate loci for pathologies in human MKS, NPHP, and JBTS. PMID:18337471

Distribution of elastic fibers in the head and neck: a histological study using late-stage human fetuses.

PubMed

Kinoshita, Hideaki; Umezawa, Takashi; Omine, Yuya; Kasahara, Masaaki; Rodríguez-Vázquez, José Francisco; Murakami, Gen; Abe, Shinichi

2013-03-01

There is little or no information about the distribution of elastic fibers in the human fetal head. We examined this issue in 15 late-stage fetuses (crown-rump length, 220-320 mm) using aldehyde-fuchsin and elastica-Masson staining, and we used the arterial wall elastic laminae and external ear cartilages as positive staining controls. The posterior pharyngeal wall, as well as the ligaments connecting the laryngeal cartilages, contained abundant elastic fibers. In contrast with the sphenomandibular ligament and the temporomandibular joint disk, in which elastic fibers were partly present, the discomalleolar ligament and the fascial structures around the pterygoid muscles did not have any elastic fibers. In addition, the posterior marginal fascia of the prestyloid space did contain such fibers. Notably, in the middle ear, elastic fibers accumulated along the tendons of the tensor tympani and stapedius muscles and in the joint capsules of the ear ossicle articulations. Elastic fibers were not seen in any other muscle tendons or vertebral facet capsules in the head and neck. Despite being composed of smooth muscle, the orbitalis muscle did not contain any elastic fibers. The elastic fibers in the sphenomandibular ligament seemed to correspond to an intermediate step of development between Meckel's cartilage and the final ligament. Overall, there seemed to be a mini-version of elastic fiber distribution compared to that in adults and a different specific developmental pattern of connective tissues. The latter morphology might be a result of an adaptation to hypoxic conditions during development.

Finite element modelling predicts changes in joint shape and cell behaviour due to loss of muscle strain in jaw development

PubMed Central

Brunt, Lucy H.; Norton, Joanna L.; Bright, Jen A.; Rayfield, Emily J.; Hammond, Chrissy L.

2015-01-01

Abnormal joint morphogenesis is linked to clinical conditions such as Developmental Dysplasia of the Hip (DDH) and to osteoarthritis (OA). Muscle activity is known to be important during the developmental process of joint morphogenesis. However, less is known about how this mechanical stimulus affects the behaviour of joint cells to generate altered morphology. Using zebrafish, in which we can image all joint musculoskeletal tissues at high resolution, we show that removal of muscle activity through anaesthetisation or genetic manipulation causes a change to the shape of the joint between the Meckel's cartilage and Palatoquadrate (the jaw joint), such that the joint develops asymmetrically leading to an overlap of the cartilage elements on the medial side which inhibits normal joint function. We identify the time during which muscle activity is critical to produce a normal joint. Using Finite Element Analysis (FEA), to model the strains exerted by muscle on the skeletal elements, we identify that minimum principal strains are located at the medial region of the joint and interzone during mouth opening. Then, by studying the cells immediately proximal to the joint, we demonstrate that biomechanical strain regulates cell orientation within the developing joint, such that when muscle-induced strain is removed, cells on the medial side of the joint notably change their orientation. Together, these data show that biomechanical forces are required to establish symmetry in the joint during development. PMID:26253758

Finite element modelling predicts changes in joint shape and cell behaviour due to loss of muscle strain in jaw development.

PubMed

Brunt, Lucy H; Norton, Joanna L; Bright, Jen A; Rayfield, Emily J; Hammond, Chrissy L

2015-09-18

Abnormal joint morphogenesis is linked to clinical conditions such as Developmental Dysplasia of the Hip (DDH) and to osteoarthritis (OA). Muscle activity is known to be important during the developmental process of joint morphogenesis. However, less is known about how this mechanical stimulus affects the behaviour of joint cells to generate altered morphology. Using zebrafish, in which we can image all joint musculoskeletal tissues at high resolution, we show that removal of muscle activity through anaesthetisation or genetic manipulation causes a change to the shape of the joint between the Meckel's cartilage and Palatoquadrate (the jaw joint), such that the joint develops asymmetrically leading to an overlap of the cartilage elements on the medial side which inhibits normal joint function. We identify the time during which muscle activity is critical to produce a normal joint. Using Finite Element Analysis (FEA), to model the strains exerted by muscle on the skeletal elements, we identify that minimum principal strains are located at the medial region of the joint and interzone during mouth opening. Then, by studying the cells immediately proximal to the joint, we demonstrate that biomechanical strain regulates cell orientation within the developing joint, such that when muscle-induced strain is removed, cells on the medial side of the joint notably change their orientation. Together, these data show that biomechanical forces are required to establish symmetry in the joint during development. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Update on oral-facial-digital syndromes (OFDS).

PubMed

Franco, Brunella; Thauvin-Robinet, Christel

2016-01-01

Oral-facial-digital syndromes (OFDS) represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits. Additional signs may involve brain, kidneys and other organs thus better defining the different clinical subtypes. With the exception of OFD types I and VIII, which are X-linked, the majority of OFDS is transmitted as an autosomal recessive syndrome. A number of genes have already found to be mutated in OFDS and most of the encoded proteins are predicted or proven to be involved in primary cilia/basal body function. Preliminary data indicate a physical interaction among some of those proteins and future studies will clarify whether all OFDS proteins are part of a network functionally connected to cilia. Mutations in some of the genes can also lead to other types of ciliopathies with partially overlapping phenotypes, such as Joubert syndrome (JS) and Meckel syndrome (MKS), supporting the concept that cilia-related diseases might be a continuous spectrum of the same phenotype with different degrees of severity. To date, seven of the described OFDS still await a molecular definition and two unclassified forms need further clinical and molecular validation. Next-generation sequencing (NGS) approaches are expected to shed light on how many OFDS geneticists should consider while evaluating oral-facial-digital cases. Functional studies will establish whether the non-ciliary functions of the transcripts mutated in OFDS might contribute to any of the phenotypic abnormalities observed in OFDS.

Intracranial stimulation of the trigeminal nerve in man. III. Sensory potentials.

PubMed Central

Cruccu, G; Inghilleri, M; Manfredi, M; Meglio, M

1987-01-01

Percutaneous electrical stimulation of the trigeminal root was performed in 18 subjects undergoing surgery for idiopathic trigeminal neuralgia or implantation of electrodes into Meckel's cave for recording of limbic epileptic activity. All subjects had normal trigeminal reflexes and evoked potentials. Sensory action potentials were recorded antidromically from the supraorbital (V1), infraorbital (V2) and mental (V3) nerves. In the awake subject, sensory potentials were usually followed by myogenic artifacts due to direct activation of masticatory muscles or reflex activation of facial muscles. In the anaesthetised and curarised subject, sensory potentials from the three nerves showed 1.4-2.2 ms onset latency, 1.9-2.7 ms peak latency and 17-29 microV amplitude. Sensory conduction velocity was computed at the onset latency (maximum CV) and at the peak latency (peak CV). On average, maximum and peak CV were 52 and 39 m/s for V1, 54 and 42 m/s for V2 and 54 and 44 m/s for V3. There was no apparent difference in CV between subjects with trigeminal neuralgia and those with epilepsy. A significant inverse correlation was found between CV and age, the overall maximum CV declining from 59 m/s (16 years) to 49 m/s (73 years). This range of CV is compatible both with histometric data and previous electrophysiological findings on trigeminal nerve conduction. Intraoperative intracranial stimulation is also proposed as a method of monitoring trigeminal function under general anaesthesia. Images PMID:3681311

A Comparison between the Kawase and Extended Retrosigmoid Approaches (Retrosigmoid Transtentorial and Retrosigmoid Intradural Suprameatal Approaches) for Accessing the Petroclival Tumors. A Cadaveric Study

PubMed Central

Sharma, Mayur; Ambekar, Sudheer; Guthikonda, Bharat; Nanda, Anil

2014-01-01

Background The aim of our study was to compare the area of exposure at the ventral brainstem and petroclival region offered by the Kawase, retrosigmoid transtentorial (RTT), and the retrosigmoid intradural suprameatal (RISA) approaches in cadaveric models. Methods We performed 15 approaches (five each of the Kawase, RISA, and RTT approaches) on silicone-injected adult cadaver heads. Ventral brainstem and petroclival areas of exposure were measured and compared. Results The mean ventral brainstem area exposed by the Kawase approach was 55.00 ± 24.1 mm2, significantly less than that exposed by RTT (441 ± 63.3 mm2) and RISA (311 ± 61 mm2) (p < 0.05). The area of ventral brainstem exposure was significantly more via RTT than through RISA (p = 0.01). The mean petroclival area of exposure through the Kawase approach was significantly smaller than that obtained through the RTT and RISA approaches (101.7 ± 545.01 mm2, 696 ± 57.7 mm2, and 716.7 ± 51.4 mm2, respectively). Conclusion Retrosigmoid approaches provide a greater exposure of the brainstem and petroclival areas. The Kawase approach is ideally suited for lesions around the Meckel cave with an extension into the middle fossa. These approaches can be used in conjunction with one another to access petroclival tumors. PMID:24967151

Genetic, chromosomal, and syndromic causes of neural tube defects

PubMed Central

Seidahmed, Mohammed Z.; Abdelbasit, Omer B.; Shaheed, Meeralebbae M.; Alhussein, Khalid A.; Miqdad, Abeer M.; Samadi, Abdulmohsen S.; Khalil, Mohammed I.; Al-Mardawi, Elham; Salih, Mustafa A.

2014-01-01

Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Results: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. Conclusions: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions. PMID:25551112

Outcomes of urethral calculi patients in an endemic region and an undiagnosed primary fossa navicularis calculus.

PubMed

Verit, Ayhan; Savas, Murat; Ciftci, Halil; Unal, Dogan; Yeni, Ercan; Kaya, Mete

2006-02-01

Urethral calculus is a rare form of urolithiasis with an incidence lower than 0.3%. We determined the outcomes of 15 patients with urethral stone, of which 8 were pediatric, including an undiagnosed primary fossa navicularis calculus. Fifteen consecutive male patients, of whom eight were children, with urethral calculi were assessed between 2000 and 2005 with a mean of 19 months' follow-up. All stones were fusiform in shape and solitary. Acute urinary retention, interrupted or weak stream, pain (penile, urethral, perineal) and gross hematuria were the main presenting symptoms in 7 (46.7%), 4 (26.7%), 3 (20%) and 1 (6.6%) patient, respectively. Six of them had accompanying urethral pathologies such as stenosis (primary or with hypospadias) and diverticulum. Two patients were associated with upper urinary tract calculi but none of them secondary to bladder calculi. A 50-year-old patient with a primary urethral stone disease had urethral meatal stenosis accompanied by lifelong lower urinary tract symptoms. Unlike the past reports, urethral stones secondary to bladder calculi were decreasing, especially in the pediatric population. However, the pediatric patients in their first decade are still under risk secondary to the upper urinary tract calculi or the primary ones.

[Endoscopic full-thickness resection].

PubMed

Meier, B; Schmidt, A; Caca, K

2016-08-01

Conventional endoscopic resection techniques such as endoscopic mucosal resection (EMR) or endoscopic submucosal dissection (ESD) are powerful tools for the treatment of gastrointestinal (GI) neoplasms. However, those techniques are limited to the superficial layers of the GI wall (mucosa and submucosa). Lesions without lifting sign (usually arising from deeper layers) or lesions in difficult anatomic positions (appendix, diverticulum) are difficult - if not impossible - to resect using conventional techniques, due to the increased risk of complications. For larger lesions (>2 cm), ESD appears to be superior to the conventional techniques because of the en bloc resection, but the procedure is technically challenging, time consuming, and associated with complications even in experienced hands. Since the development of the over-the-scope clips (OTSC), complications like bleeding or perforation can be endoscopically better managed. In recent years, different endoscopic full-thickness resection techniques came to the focus of interventional endoscopy. Since September 2014, the full-thickness resection device (FTRD) has the CE marking in Europe for full-thickness resection in the lower GI tract. Technically the device is based on the OTSC system and combines OTSC application and snare polypectomy in one step. This study shows all full-thickness resection techniques currently available, but clearly focuses on the experience with the FTRD in the lower GI tract.

Esophageal healing in the pony: comparison of sutured vs nonsutured esophagotomy.

PubMed

Stick, J A; Krehbiel, J D; Kunze, D J; Wortman, J A

1981-09-01

Esophageal healing was evaluated in 10 ponies after sutured and nonsutured cervical esophagotomy techniques. Mucosal healing occurred significantly (P less than 0.005) faster after sutured esophagotomies (x = 7.5 days after surgery) than after nonsutured esophagotomies (x = 25.6 days after surgery), based on endoscopic and clinical evaluations. Although endoscopy was an accurate assessment of the return of normal passage of a food bolus through the esophagus, 4 of 10 ponies had radiographic evidence of a sinus tract after the mucosa was considered healed, based on endoscopic and clinical examinations. The surgical skin wound also healed significantly sooner after sutured esophagotomies (x = 10 days) than after nonsutured esophagotomies (x = 33.4 days). A traction diverticulum developed in all ponies with nonsutured esophagotomies, but occurred in only 1 pony with sutured esophagotomy. Minor complications were seen more frequently with sutured esophagotomy than with a nonsutured esophagotomy, but were resolved with local therapy. Saliva appeared to inhibit wound healing. All ponies were fed through esophagostomy tubes until the mucosa at the esophagotomy site was considered healed. Except for 1 sutured esophagotomy that dehisced, sutured esophagotomy was superior to nonsutured esophagotomy, because earlier establishment of a mucosal seal resulted in more rapid healing and reduced nursing care.

Use of Diagnostic Imaging in the Evaluation of Gastrointestinal Tract Duplications

PubMed Central

Laskowska, Katarzyna; Gałązka, Przemysław; Daniluk-Matraś, Irena; Leszczyński, Waldemar; Serafin, Zbigniew

2014-01-01

Summary Background Gastrointestinal tract duplication is a rare malformation associated with the presence of additional segment of the fetal gut. The aim of this study was to retrospectively review clinical features and imaging findings in intraoperatively confirmed cases of gastrointestinal tract duplication in children. Material/Methods The analysis included own material from the years 2002–2012. The analyzed group included 14 children, among them 8 boys and 6 girls. The youngest patient was diagnosed at the age of three weeks, and the oldest at 12 years of age. Results The duplication cysts were identified in the esophagus (n=2), stomach (n=5), duodenum (n=1), terminal ileum (n=5), and rectum (n=1). In four cases, the duplication coexisted with other anomalies, such as patent urachus, Meckel’s diverticulum, mesenteric cyst, and accessory pancreas. Clinical manifestation of gastrointestinal duplication cysts was variable, and some of them were detected accidently. Thin- or thick-walled cystic structures adjacent to the wall of neighboring gastrointestinal segment were documented on diagnostic imaging. Conclusions Ultrasound and computed tomography are the methods of choice in the evaluation of gastrointestinal duplication cysts. Apart from the diagnosis of the duplication cyst, an important issue is the detection of concomitant developmental pathologies, including pancreatic heterotopy. PMID:25114725

Heavily T2-weighted MR myelography in patients with spontaneous intracranial hypotension: a case-control study.

PubMed

Tsai, P-H; Fuh, J-L; Lirng, J-F; Wang, S-J

2007-08-01

We performed whole-spine heavily T2-weighted magnetic resonance (MR) myelography using a single-shot fast spin-echo pulse sequence in 17 patients (8 M/9 F) with spontaneous intracranial hypotension (SIH) to detect abnormal cerebrospinal fluid (CSF) collections. In addition, a group of age- and sex-matched controls were recruited. Follow-up MR myelography was also done at 3 weeks. MR myelography showed three kinds of abnormal CSF collections in 15 patients with SIH (88%): epidural fluid collection (n = 15, 88%), C1-2 extraspinal collections (n = 6, 35%) and CSF collections along nerve roots in the lower cervical or upper thoracic spines (n = 6, 35%). One patient (6%) showed a meningeal diverticulum. In contrast, none of the controls showed these findings. Overall, MR myelography results helped in early diagnosis of SIH in four (24%) patients whose initial brain MRIs failed to show typical SIH findings. Follow-up MR myelography results were compatible with the clinical changes with kappa statistics of 0.52 and an agreement rate of 76%. Our study showed heavily T2-weighted MR myelography provided a rapid, non-invasive and high yield method to diagnose and follow-up patients with SIH. Whether the CSF collections along the nerve roots represent the ongoing leakage sites warrants further study.

Routine upper gastrointestinal Gastrografin swallow after laparoscopic Roux-en-Y gastric bypass.

PubMed

Sims, Thomas L; Mullican, Mary A; Hamilton, Elizabeth C; Provost, David A; Jones, Daniel B

2003-02-01

Upper gastrointestinal (UGI) swallow radiographs following laparoscopic Roux-en-Y gastric bypass (LRYGBP) may detect an obstruction or an anastomotic leak. The aim of our study was to determine the efficacy of routine imaging following LRYGBP. Radiograph reports were reviewed for 201 consecutive LRYGBP operations between April 1999 and June 2001. UGI swallow used Gastrografin, static films, fluoroscopic video, and a delayed image at 10 minutes. Mean values with one standard deviation were tested for significance (P < 0.05) using the Mann-Whitney U test statistic. Of 198 available reports, UGI detected jejunal efferent (Roux) limb narrowing (n = 17), partial obstruction (n = 12), anastomotic leak (n = 3), complete bowel obstruction (n = 3), diverticulum (n = 1), hiatal hernia (n = 1), and proximal Roux limb narrowing (n = 1). A normal study was reported in 160 cases (81%). Partial obstruction resolved without intervention. Complete obstruction required re-operation. Compared to 6 patients who developed delayed leaks, early identification of a leak by routine UGI swallow resulted in a shorter hospital stay (mean 7.7 +/- 1.5 days vs 40.2 +/- 12.3 days, P < 0.03). Early intervention after UGI swallow may lessen morbidity. Routine UGI swallow following LRYGBP does not obviate the importance of close clinical follow-up.

Treatment of oropharyngeal dysphagia secondary to idiopathic cricopharyngeal bar: Surgical cricopharyngeal muscle myotomy versus dilation.

PubMed

Marston, Alexander P; Maldonado, Francisco J; Ravi, Karthik; Kasperbauer, Jan L; Ekbom, Dale C

To compare swallowing outcomes following cricopharyngeal (CP) dilation versus surgical myotomy in patients with dysphagia secondary to idiopathic CP bar. All patients had an idiopathic CP bar without a history of Zenker's diverticulum, head and neck cancer, or systemic neurologic disease treated between 2000 and 2013. The Functional Outcome Swallowing Scale (FOSS) was utilized to assess dysphagia symptoms. Twenty-three patients underwent 46 dilations and 20 patients had a myotomy. Nineteen of 23 (83%) patients in the dilation group and all patients in the myotomy group reported improved swallow function. The median difference in pre- versus post-intervention FOSS scores was not statistically significant (p=0.07) between the dilation and myotomy groups with mean reductions of 1.3 and 1.8, respectively. Seventeen of 23 (74%) dilation patients had persistent or recurrent dysphagia with 13 (57%) requiring repeat dilation and 4 (17%) undergoing CP myotomy. The median time to first reintervention in the dilation group was 13.6months. Nineteen of 20 (95%) surgical myotomy patients did not experience recurrent dysphagia. Both endoscopic CP dilation and myotomy led to similar initial improvement in swallow function for patients with primary idiopathic CP bar; however, dilation is more likely to provide temporary benefit. Copyright © 2016 Elsevier Inc. All rights reserved.

Reality named endoscopic ultrasound biliary drainage

PubMed Central

Guedes, Hugo Gonçalo; Lopes, Roberto Iglesias; de Oliveira, Joel Fernandez; Artifon, Everson Luiz de Almeida

2015-01-01

Endoscopic ultrasound (EUS) is used for diagnosis and evaluation of many diseases of the gastrointestinal (GI) tract. In the past, it was used to guide a cholangiography, but nowadays it emerges as a powerful therapeutic tool in biliary drainage. The aims of this review are: outline the rationale for endoscopic ultrasound-guided biliary drainage (EGBD); detail the procedural technique; evaluate the clinical outcomes and limitations of the method; and provide recommendations for the practicing clinician. In cases of failed endoscopic retrograde cholangiopancreatography (ERCP), patients are usually referred for either percutaneous transhepatic biliary drainage (PTBD) or surgical bypass. Both these procedures have high rates of undesirable complications. EGBD is an attractive alternative to PTBD or surgery when ERCP fails. EGBD can be performed at two locations: transhepatic or extrahepatic, and the stent can be inserted in an antegrade or retrograde fashion. The drainage route can be transluminal, duodenal or transpapillary, which, again, can be antegrade or retrograde [rendezvous (EUS-RV)]. Complications of all techniques combined include pneumoperitoneum, bleeding, bile leak/peritonitis and cholangitis. We recommend EGBD when bile duct access is not possible because of failed cannulation, altered upper GI tract anatomy, gastric outlet obstruction, a distorted ampulla or a periampullary diverticulum, as a minimally invasive alternative to surgery or radiology. PMID:26504507

[A Case of Surgery after Chemotherapy for Cecal Cancer with Onset of the Stenosis of the Colostomy].

PubMed

Kono, Teppei; Yokomizo, Hajime; Yano, Yuki; Okayama, Sachiyo; Satake, Masaya; Yamada, Yasufumi; Ida, Arika; Usui, Takebumi; Yamaguchi, Kentaro; Shiozawa, Shunichi; Yoshimatsu, Kazuhiko; Shimakawa, Takeshi; Katsube, Takao; Kato, Hiroyuki; Naritaka, Yoshihiko

2018-02-01

The patient was 55-year-old woman, undergoing Hartmann operation by the sigmoid colon diverticulum perforation, 2 years later visited our hospital with abdominal pain. Although lower endoscopy and histological examination could not be performed due to stoma stenosis, we diagnosed cecal carcinoma, liver metastasis, distant lymph node metastasis from CT and PET-CT, CapeOX plus Bmabtherapy and IRIS plus Bmabtherapy were performed. After that, repeated intestinal obstruction due to exacerbated stoma stenosis, metastatic lesion increased in CT examination, furthermore the patient had hope of stoma closure, we decided to resect the primacy tumor, performed subtotal colonectomy and stoma closure. Pathological diagnosis revealed RAS wild type. After surgery, Pmabplus CPT-11 therapy was performed and the metastatic lesion was temporarily shrunk but re-exacerbated, the patient died 2 years 2 months after the first treatment started, 7 months after the primary tumor resection. In the treatment of colorectal cancer, when metastatic lesion is unresectable, chemotherapy is often carried out except when the primary tumor is symptomatic. In our case, although the primary tumor was asymptomatic, an intestinal obstruction due to stoma stenosis was developed and it was necessary to examine whether to use anti-EGFR antibody drugs, therefore we performed operation.

Review of esophageal injuries and stenosis: Lessons learn and current concepts of management.

PubMed

Ramareddy, Raghu Sampalli; Alladi, Anand

2016-01-01

To review the patients with esophageal injuries and stenosis with respect to their etiology, clinical course, management, and the lessons learnt from these. Retrospective descriptive observation review of children with esophageal injuries and stenosis admitted between January 2009 and April 2015. Eighteen children with esophageal injuries of varied etiology were managed and included, seven with corrosive injury, five with perforation due to various causes, three with mucosal erosion, two with trachea esophageal fistula (TEF), and one wall erosion. The five children who had perforation were due to poststricture dilatation in a child with esophageal atresia and secondary to foreign body impaction or its attempted retrieval in four. Alkaline button cell had caused TEF in two. Three congenital esophageal stenosis (CES) had presented with dysphagia and respiratory tract infection. Six corrosive stricture and two CES responded to dilatation alone and one each of them required surgery. Four of the children with esophageal perforation were detected early and required drainage procedure (1), diversion (1), and medical management (2). Pseudo diverticulum was managed expectantly. Among TEF, one had spontaneous closure and other one was lost to follow-up. All the remaining nineteen children have recovered well except one CES had mortality. Esophageal injuries though rare can be potentially devastating and life-threatening.

Protocotyle euzetmaillardi n. sp. (Monogenea: Hexabothriidae) from the bigeye sixgill shark Hexanchus nakamurai Teng (Elasmobranchii: Hexanchidae) off New Caledonia.

PubMed

Justine, Jean-Lou

2011-01-01

Protocotyle euzetmaillardi n. sp. is described from the gills of the sixgill shark Hexanchus nakamurai Teng caught in deep-sea off New Caledonia, South Pacific. The new species is compared with the two other species of the genus (both from the only other species in this shark genus, H. griseus (Bonn.)), namely P. grisea (Cerfontaine, 1899) Euzet & Maillard, 1974, redescribed from vouchers, and P. taschenbergi (Maillard & Oliver, 1966) Euzet & Maillard, 1974, redescribed from its type-specimens. The anatomy of the reproductive system is detailed; all three species have a characteristic oötype with longitudinal cells ('ootype côtelé' of Euzet & Maillard). The following unique combination of characters differentiates the new species from its two congeners: posterior lobe of seminal vesicle absent, diverticulum of oviduct present and small body size. Furthermore, its tubular ovary does not include a region with sperm, which is present in both of the other species, and its eggs have only one filament, whereas eggs in the uterus have one or two filaments in P. grisea and one filament in P. taschenbergi. The latter features differ from existing diagnoses of Protocotyle, in which eggs with two filaments and the presence of a tubular ovary dilated with sperm are key characteristics.

New treatment of vertigo caused by jugular bulb abnormalities.

PubMed

Hitier, Martin; Barbier, Charlotte; Marie-Aude, Thenint; Moreau, Sylvain; Courtheoux, Patrick; Patron, Vincent

2014-08-01

Jugular bulb abnormalities can induce tinnitus, hearing loss, or vertigo. Vertigo can be very disabling and may need surgical treatments with risk of hearing loss, major bleeding or facial palsy. Hence, we have developed a new treatment for vertigo caused by jugular bulb anomalies, using an endovascular technique. Three patients presented with severe vertigos mostly induced by high venous pressure. One patient showed downbeat vertical nystagmus during the Valsalva maneuver. The temporal-bone computed tomography scan showed a high rising jugular bulb or a jugular bulb diverticulum with dehiscence and compression of the vestibular aqueduct in all cases. We plugged the upper part of the bulb with coils, and we used a stent to maintain the coils and preserving the venous permeability. After 12- to 24-month follow-up, those patients experienced no more vertigo, allowing return to work. The 3-month arteriographs showed good permeability of the sigmoid sinus and jugular bulb through the stent, with complete obstruction of the upper part of the bulb in all cases. Disabling vertigo induced by jugular bulb abnormalities can be effectively treated by an endovascular technique. This technique is minimally invasive with a probable greater benefit/risk ratio compare with surgery. © The Author(s) 2013.

The craniocaudal extension of posterolateral approaches and their combination: a quantitative anatomic and clinical analysis.

PubMed

Safavi-Abbasi, Sam; de Oliveira, Jean G; Deshmukh, Pushpa; Reis, Cassius V; Brasiliense, Leonardo B C; Crawford, Neil R; Feiz-Erfan, Iman; Spetzler, Robert F; Preul, Mark C

2010-03-01

The aim of this study was to describe quantitatively the properties of the posterolateral approaches and their combination. Six silicone-injected cadaveric heads were dissected bilaterally. Quantitative data were generated with the Optotrak 3020 system (Northern Digital, Waterloo, Canada) and Surgiscope (Elekta Instruments, Inc., Atlanta, GA), including key anatomic points on the skull base and brainstem. All parameters were measured after the basic retrosigmoid craniectomy and then after combination with a basic far-lateral extension. The clinical results of 20 patients who underwent a combined retrosigmoid and far-lateral approach were reviewed. The change in accessibility to the lower clivus was greatest after the far-lateral extension (mean change, 43.62 +/- 10.98 mm2; P = .001). Accessibility to the constant landmarks, Meckel's cave, internal auditory meatus, and jugular foramen did not change significantly between the 2 approaches (P > .05). The greatest change in accessibility to soft tissue between the 2 approaches was to the lower brainstem (mean change, 33.88 +/- 5.25 mm2; P = .0001). Total removal was achieved in 75% of the cases. The average postoperative Glasgow Outcome Scale score of patients who underwent the combined retrosigmoid and far-lateral approach improved significantly, compared with the preoperative scores. The combination of the far-lateral and simple retrosigmoid approaches significantly increases the petroclival working area and access to the cranial nerves. However, risk of injury to neurovascular structures and time needed to extend the craniotomy must be weighed against the increased working area and angles of attack.

Comparative study of MSX-2, DLX-5, and DLX-7 gene expression during early human tooth development.

PubMed

Davideau, J L; Demri, P; Hotton, D; Gu, T T; MacDougall, M; Sharpe, P; Forest, N; Berdal, A

1999-12-01

Msx and Dlx family transcription factors are key elements of craniofacial development and act in specific combinations with growth factors to control the position and shape of various skeletal structures in mice. In humans, the mutations of MSX and DLX genes are associated with specific syndromes, such as tooth agenesis, craniosynostosis, and tricho-dento-osseous syndrome. To establish some relationships between those reported human syndromes, previous experimental data in mice, and the expression patterns of MSX and DLX homeogenes in the human dentition, we investigated MSX-2, DLX-5, and DLX-7 expression patterns and compared them in orofacial tissues of 7.5- to 9-wk-old human embryos by using in situ hybridization. Our data showed that MSX-2 was strongly expressed in the progenitor cells of human orofacial skeletal structures, including mandible and maxilla bones, Meckel's cartilage, and tooth germs, as shown for DLX-5. DLX-7 expression was restricted to the vestibular lamina and, later on, to the vestibular part of dental epithelium. The comparison of MSX-2, DLX-5, and DLX-7 expression patterns during the early stages of development of different human tooth types showed the existence of spatially ordered sequences of homeogene expression along the vestibular/lingual axis of dental epithelium. The expression of MSX-2 in enamel knot, as well as the coincident expression of MSX-2, DLX-5, and DLX-7 in a restricted vestibular area of dental epithelium, suggests the existence of various organizing centers involved in the control of human tooth morphogenesis.

Locoregional control after intensity-modulated radiotherapy for nasopharyngeal carcinoma with an anatomy-based target definition.

PubMed

Kawashima, Mitsuhiko; Ariji, Takaki; Kameoka, Satoru; Ueda, Takashi; Kohno, Ryosuke; Nishio, Teiji; Arahira, Satoko; Motegi, Atsushi; Zenda, Sadamoto; Akimoto, Tetsuo; Tahara, Makoto; Hayashi, Ryuichi

2013-12-01

The objective of the study was to evaluate locoregional control after intensity-modulated radiotherapy for nasopharyngeal cancer using a target definition along with anatomical boundaries. Forty patients with biopsy-proven squamous cell or non-keratinizing carcinoma of the nasopharynx who underwent intensity-modulated radiotherapy between April 2006 and November 2009 were reviewed. There were 10 females and 30 males with a median age of 48 years (range, 17-74 years). More than half of the patients had T3/4 (n = 21) and/or N2/3 (n = 24) disease. Intensity-modulated radiotherapy was administered as 70 Gy/33 fractions with or without concomitant chemotherapy. The clinical target volume was contoured along with muscular fascia or periosteum, and the prescribed radiotherapy dose was determined for each anatomical compartment and lymph node level in the head and neck. One local recurrence was observed at Meckel's cave on the periphery of the high-risk clinical target volume receiving a total dose of <63 Gy. Otherwise, six locoregional failures were observed within irradiated volume receiving 70 Gy. Local and nodal control rates at 3 years were 91 and 89%, respectively. Adverse events were acceptable, and 25 (81%) of 31 patients who were alive without recurrence at 2 years had xerostomia of ≤Grade 1. The overall survival rate at 3 years was 87%. Target definition along with anatomically defined boundaries was feasible without compromise of the therapeutic ratio. It is worth testing this method further to minimize the unnecessary irradiated volume and to standardize the target definition in intensity-modulated radiotherapy for nasopharyngeal cancer.

Distribution of elastic fibers in the head and neck: a histological study using late-stage human fetuses

PubMed Central

Kinoshita, Hideaki; Umezawa, Takashi; Omine, Yuya; Kasahara, Masaaki; Rodríguez-Vázquez, José Francisco; Murakami, Gen

2013-01-01

There is little or no information about the distribution of elastic fibers in the human fetal head. We examined this issue in 15 late-stage fetuses (crown-rump length, 220-320 mm) using aldehyde-fuchsin and elastica-Masson staining, and we used the arterial wall elastic laminae and external ear cartilages as positive staining controls. The posterior pharyngeal wall, as well as the ligaments connecting the laryngeal cartilages, contained abundant elastic fibers. In contrast with the sphenomandibular ligament and the temporomandibular joint disk, in which elastic fibers were partly present, the discomalleolar ligament and the fascial structures around the pterygoid muscles did not have any elastic fibers. In addition, the posterior marginal fascia of the prestyloid space did contain such fibers. Notably, in the middle ear, elastic fibers accumulated along the tendons of the tensor tympani and stapedius muscles and in the joint capsules of the ear ossicle articulations. Elastic fibers were not seen in any other muscle tendons or vertebral facet capsules in the head and neck. Despite being composed of smooth muscle, the orbitalis muscle did not contain any elastic fibers. The elastic fibers in the sphenomandibular ligament seemed to correspond to an intermediate step of development between Meckel's cartilage and the final ligament. Overall, there seemed to be a mini-version of elastic fiber distribution compared to that in adults and a different specific developmental pattern of connective tissues. The latter morphology might be a result of an adaptation to hypoxic conditions during development. PMID:23560235

Readmission after Gastrointestinal Bleeding in Children: A Retrospective Cohort Study.

PubMed

Attard, Thomas M; Miller, Mikaela; Pant, Chaitanya; Thomson, Mike

2017-05-01

To compare the demographic, clinical, and therapeutic characteristics in a cohort of patients discharged following acute gastrointestinal bleeding, representing to the emergency department (ED) and readmitted within 30 days of discharge with the characteristics of non-readmitted patients. Hospitalization data was obtained from the Pediatric Hospital Information System including 49 tertiary children's hospitals in the US. Children 1-21 years of age diagnosed with acute gastrointestinal bleeding, admitted between January 2007 and September 2015 were included. The primary outcomes in this study were 30-day inpatient readmission through the ED and 30-day return to the ED only. Unadjusted, univariate followed by multivariable analysis of the associations between patient characteristics and treatment course at the index encounter using the R statistical package, v. 3.2.3. During the study period, 9902 patients were admitted with acute gastrointestinal bleeding; in the following month, 1460 (16.1%) represented to the ED and 932 (9%) were readmitted; 68.7% within 14 days from discharge. Readmission was most frequently associated with portal hypertension or esophageal variceal hemorrhage. There was a decreased likelihood of readmission with endoscopy (OR 0.77, 95% CI, 0.661, 0.906) and with Meckel scan (OR 0.513, 95% CI 0.362, 0.727) during the initial admission. Multiple comorbidities, longer initial stay and the early proton pump inhibitor therapy were associated with higher likelihood of readmission. Readmission following acute gastrointestinal bleeding is common and is more likely following variceal hemorrhage, long initial admission, and chronic comorbidities. Copyright © 2017 Elsevier Inc. All rights reserved.

A developmental staging series for the African house snake, Boaedon (Lamprophis) fuliginosus.

PubMed

Boback, Scott M; Dichter, Eric K; Mistry, Hemlata L

2012-02-01

Embryonic staging series are important tools in the study of morphological evolution as they establish a common standard for future studies. In this study, we describe the in ovo embryological development of the African house snake (Boaedon fuliginosus), a non-venomous, egg-laying species within the superfamily Elapoidea. We develop our staging series based on external morphology of the embryo including the head, eye, facial prominences, pharyngeal slits, heart, scales, and endolymphatic ducts. An analysis of embryonic growth in length and mass is presented, as well as preliminary data on craniofacial skeletal development. Our results indicate that B. fuliginosus embryos are well into organogenesis but lack well-defined facial prominences at the time of oviposition. Mandibular and maxillary processes extend rostrally within 8 days (stage 3), corresponding to the first appearance of Meckel's cartilages. Overall, the development of the craniofacial skeleton in B. fuliginosus appears similar to that of other snake species with intramembraneous bones (e.g., dentary and compound bones) ossifying before most of the endochondral bones, the first of which to ossify are the quadrate and the otic capsule. Our staging series is the first to describe the post-ovipositional development of a non-venomous elapoid based on external morphology. This species is an extremely tractable captive that can produce large clutches of eggs every 45 days throughout the year. As such, B. fuliginosus should be a good model for evolutionary developmental biologists focusing on the craniofacial skeleton, loss of limbs, generational teeth, and venom delivery systems. Copyright © 2011 Elsevier GmbH. All rights reserved.

Joubert syndrome: genotyping a Northern European patient cohort.

PubMed

Kroes, Hester Y; Monroe, Glen R; van der Zwaag, Bert; Duran, Karen J; de Kovel, Carolien G; van Roosmalen, Mark J; Harakalova, Magdalena; Nijman, Ies J; Kloosterman, Wigard P; Giles, Rachel H; Knoers, Nine V A M; van Haaften, Gijs

2016-02-01

Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with >20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of disease progression and genetic counseling. We developed a targeted next-generation sequencing (NGS) approach for parallel sequencing of 22 known JBS genes plus 599 additional ciliary genes. This method was used to genotype a cohort of 51 well-phenotyped Northern European JBS cases (in some of the cases, Sanger sequencing of individual JBS genes had been performed previously). Altogether, 21 of the 51 cases (41%) harbored biallelic pathogenic mutations in known JBS genes, including 14 mutations not previously described. Mutations in C5orf42 (12%), TMEM67 (10%), and AHI1 (8%) were the most prevalent. C5orf42 mutations result in a purely neurological Joubert phenotype, in one case associated with postaxial polydactyly. Our study represents a population-based cohort of JBS patients not enriched for consanguinity, providing insight into the relative importance of the different JBS genes in a Northern European population. Mutations in C5orf42 are relatively frequent (possibly due to a Dutch founder mutation) and mutations in CEP290 are underrepresented compared with international cohorts. Furthermore, we report a case with heterozygous mutations in CC2D2A and B9D1, a gene associated with the more severe Meckel-Gruber syndrome that was recently published as a potential new JBS gene, and discuss the significance of this finding.

CT Colonography with Computer-aided Detection: Recognizing the Causes of False-Positive Reader Results

PubMed Central

Dachman, Abraham H.; Wroblewski, Kristen; Vannier, Michael W.; Horne, John M.

2014-01-01

Computed tomography (CT) colonography is a screening modality used to detect colonic polyps before they progress to colorectal cancer. Computer-aided detection (CAD) is designed to decrease errors of detection by finding and displaying polyp candidates for evaluation by the reader. CT colonography CAD false-positive results are common and have numerous causes. The relative frequency of CAD false-positive results and their effect on reader performance on the basis of a 19-reader, 100-case trial shows that the vast majority of CAD false-positive results were dismissed by readers. Many CAD false-positive results are easily disregarded, including those that result from coarse mucosa, reconstruction, peristalsis, motion, streak artifacts, diverticulum, rectal tubes, and lipomas. CAD false-positive results caused by haustral folds, extracolonic candidates, diminutive lesions (<6 mm), anal papillae, internal hemorrhoids, varices, extrinsic compression, and flexural pseudotumors are almost always recognized and disregarded. The ileocecal valve and tagged stool are common sources of CAD false-positive results associated with reader false-positive results. Nondismissable CAD soft-tissue polyp candidates larger than 6 mm are another common cause of reader false-positive results that may lead to further evaluation with follow-up CT colonography or optical colonoscopy. Strategies for correctly evaluating CAD polyp candidates are important to avoid pitfalls from common sources of CAD false-positive results. ©RSNA, 2014 PMID:25384290

Endoscopic Vacuum-Assisted Closure Therapy in Patients with Anastomotic Leakage after Esophagectomy: A Single-Center Experience

PubMed Central

Noh, Soo Min; Lee, Jeong Hoon; Jung, Hwoon-Yong; AlGhamdi, Zeead; Kim, Hyeong Ryul; Kim, Yong-Hee

2018-01-01

Aim To study the efficacy of E-VAC therapy for patients with anastomotic leakage after esophagectomy. Methods Between January 2013 and April 2017, 12 patients underwent E-VAC therapy for the management of postoperative leakage. Their clinical features and endoscopic procedure details, therapy results, adverse events, and survival were investigated. Results All 12 patients were male and the median age was 57 years (interquartile range 51.5–62.8 years). The reasons for esophageal surgery were esophageal cancer (83.3%), gastrointestinal stromal tumor (8.3%), and esophageal diverticulum (8.3%). Prior to E-VAC therapy, 6 patients had undergone failed primary surgical repair and the median duration from esophagectomy to leakage discovery was 13.5 days (IQR 6–207 days). The median duration of E-VAC therapy was 25 days (IQR 13.5–34.8 days) and the average sponge exchange rate was 2.7 times during the treatment period. After E-VAC therapy, 8 patients (66.7%) had complete leakage closure, 3 (25%) had a decreased leakage size, and 1 (8.3%) was unchanged. The three patients with a decreased leakage size after E-VAC therapy were treated with endoscopic and conservative management without further surgery. Conclusion With proper patient selection, E-VAC therapy is a feasible and safe method for the treatment of anastomotic leakage after esophagectomy. PMID:29849581

Gastrointestinal helminths (Cestoda, Chabertiidae and Heligmonellidae) of Pogonomys loriae and Pogonomys macrourus (Rodentia: Muridae) from Papua Indonesia and Papua New Guinea with the description of a new genus and two new species.

PubMed

Smales, L R

2014-11-28

Pieces of cestode, not indentified further, and 12 species of nematode including 1 new genus, 3 new species and 7 putative new species from the Families Chabertiidae and Heligmonellidae were collected from the digestive tracts of 16 Pogonomys loriae and 19 P. macrurous (Murinae: Hydromyini) from Papua, Indonesia and Papua New Guinea. The chabertiid Cyclodontostomum purvisi and the heligmonellid Odilia mackerrasae have been described previously from endemic murids. Hasanuddinia pogonomyos n. sp. can be distinguished from its congeners by the number of ridges in the synlophe, length of spicules and having a vagina with a dorsal diverticulum. Odilia dividua n. sp. is larger than its congeners, has a longer oesophagus, relatively shorter spicules and larger eggs. Pogonomystrongylus domaensis n. gen., n. sp. differs from all other genera in the Heligmonellidae in the characters of the synlophe, 7-10 ridges oriented sub frontally with a single left ventral ridge hypertrophied. Species richness of the nematode assemblages of P. loriae and P. macrourus are comparable to those of Abeomelomys sevia, Chiruromys vates and Coccymys rummleri when numbers of hosts examined are considered. Species composition was distinctive with 12, including the 7 putative species, of 14 species presently known only from species of Pogonomys. Similarities between the nematode fauna of endemic rodent hosts from Indonesia and Papua New Guinea were noted.

Feasibility of full-spectrum endoscopy: Korea’s first full-spectrum endoscopy colonoscopic trial

PubMed Central

Song, Jeong-Yeop; Cho, Youn Hee; Kim, Mi A; Kim, Jeong-Ae; Lee, Chun Tek; Lee, Moon Sung

2016-01-01

AIM: To evaluate the full-spectrum endoscopy (FUSE) colonoscopy system as the first report on the utility thereof in a Korean population. METHODS: We explored the efficacy of the FUSE colonoscopy in a retrospective, single-center feasibility study performed between February 1 and July 20, 2015. A total of 262 subjects (age range: 22-80) underwent the FUSE colonoscopy for colorectal cancer screening, polyp surveillance, or diagnostic evaluation. The cecal intubation success rate, the polyp detection rate (PDR), the adenoma detection rate (ADR), and the diverticulum detection rate (DDR), were calculated. Also, the success rates of therapeutic interventions were evaluated with biopsy confirmation. RESULTS: All patients completed the study and the success rates of cecal and terminal ileal intubation were 100% with the FUSE colonoscope; we found 313 polyps in 142 patients and 173 adenomas in 95. The overall PDR, ADR and DDR were 54.2%, 36.3%, and 25.2%, respectively, and were higher in males, and increased with age. The endoscopists and nurses involved considered that the full-spectrum colonoscope improved navigation and orientation within the colon. No colonoscopy was aborted because of colonoscope malfunction. CONCLUSION: The FUSE colonoscopy yielded a higher PDR, ADR, DDR than did traditional colonoscopy, without therapeutic failure or complications, showing feasible, effective, and safe in this first Korean trial. PMID:26937150

The non-avian theropod quadrate I: standardized terminology with an overview of the anatomy and function

PubMed Central

Araújo, Ricardo; Mateus, Octávio

2015-01-01

The quadrate of reptiles and most other tetrapods plays an important morphofunctional role by allowing the articulation of the mandible with the cranium. In Theropoda, the morphology of the quadrate is particularly complex and varies importantly among different clades of non-avian theropods, therefore conferring a strong taxonomic potential. Inconsistencies in the notation and terminology used in discussions of the theropod quadrate anatomy have been noticed, including at least one instance when no less than eight different terms were given to the same structure. A standardized list of terms and notations for each quadrate anatomical entity is proposed here, with the goal of facilitating future descriptions of this important cranial bone. In addition, an overview of the literature on quadrate function and pneumaticity in non-avian theropods is presented, along with a discussion of the inferences that could be made from this research. Specifically, the quadrate of the large majority of non-avian theropods is akinetic but the diagonally oriented intercondylar sulcus of the mandibular articulation allowed both rami of the mandible to move laterally when opening the mouth in many of theropods. Pneumaticity of the quadrate is also present in most averostran clades and the pneumatic chamber—invaded by the quadrate diverticulum of the mandibular arch pneumatic system—was connected to one or several pneumatic foramina on the medial, lateral, posterior, anterior or ventral sides of the quadrate. PMID:26401455

Non-operative management of diverticular perforation in a patient with suspected Ehlers–Danlos syndrome☆

PubMed Central

Casey, M.C.; Robertson, I.; Waters, P.S.; Hanaghan, J.; Khan, W.; Barry, K.

2014-01-01

INTRODUCTION No consensus exists regarding definitive management of colonic perforation in Ehlers–Danlos syndrome (EDS), with various authors advocating different operative techniques. Spontaneous colonic perforation is a recognised complication of vascular-type EDS (type IV), with many reported cases in the literature. No such cases have been reported concerning classical-type EDS (type I/II). PRESENTATION OF CASE A 55-year-old male with a family history of EDS presented with acute lower abdominal pain and signs of localised peritonitis. Following resuscitation, computerised tomography identified perforation of a sigmoid diverticulum with localised intraperitoneal air. Considering the potential complications associated with laparotomy in a patient with EDS, a trial of conservative management was undertaken including image-guided drainage of a mesenteric abscess. Intensive care monitoring, nutritional support and intravenous antibiotics also facilitated successful non-operative management. Following discharge, molecular studies confirmed COL5A1 mutation, and a diagnosis of classical Ehlers–Danlos syndrome was established. DISCUSSION This is the first reported case of successful conservative management of colonic diverticular perforation in a patient with classical Ehlers–Danlos syndrome. CONCLUSION EDS is highly significant in the surgical context, with the causative genetic factors serving to further complicate the course of surgical intervention. In the absence of consensus regarding best surgical management, due consideration should be given to non-operative management of benign colonic perforation. PMID:24534685

Bladder Tumor in Women with Microscopic Hematuria: An Iranian Experience and a Review of the Literature

PubMed Central

Abbaszadeh, Shahin; Taheri, Saeed; Nourbala, Mohammad Hossein

2009-01-01

Aim. In this study we report our experience with microhematuria and its relation with bladder tumors in Iranian women. Materials and Methods. Overall 249 women were evaluated. Microscopic hematuria was defined as three or more red blood cells per high-power field on at least two different occasions. Patients with a history of gross hematuria or coagulation disorders, having organic diseases, urinary stones, urinary tract infections, nephrological diseases, and local lesions such as urethral caruncle were excluded from the study population. Final diagnosis of malignant tumors was done with cystoscopy and biopsy specimen pathological assessment in all cases. Results. Age for the study population was 49.7 ± 11.8 years. 95 (38%) of patients were identified during routine check up and presenting symptoms in other patients were frequency, dysuria, stress urge incontinence, urge incontinence, feeling of incomplete urine emptying, and flunk pain, respectively. Finally, 7 (2.8%) of study subjects were confirmed as having bladder tumors. One of tumor cases was diagnosed 24 months after initial assessments. Patients with bladder tumor were significantly older; more frequently had diverticulum in their bladder wall (P < .05). Conclusion. Female microscopic hematuria is relevant and deserves evaluations, especially in elderly patients. Patients whose reason for microhematuria would not be diagnosed at the initial evaluations should be followed. PMID:19639044

Risk factors for early post-operative neurological deterioration in dogs undergoing a cervical dorsal laminectomy or hemilaminectomy: 100 cases (2002-2014).

PubMed

Taylor-Brown, F E; Cardy, T J A; Liebel, F X; Garosi, L; Kenny, P J; Volk, H A; De Decker, S

2015-12-01

Early post-operative neurological deterioration is a well-known complication following dorsal cervical laminectomies and hemilaminectomies in dogs. This study aimed to evaluate potential risk factors for early post-operative neurological deterioration following these surgical procedures. Medical records of 100 dogs that had undergone a cervical dorsal laminectomy or hemilaminectomy between 2002 and 2014 were assessed retrospectively. Assessed variables included signalment, bodyweight, duration of clinical signs, neurological status before surgery, diagnosis, surgical site, type and extent of surgery and duration of procedure. Outcome measures were neurological status immediately following surgery and duration of hospitalisation. Univariate statistical analysis was performed to identify variables to be included in a multivariate model. Diagnoses included osseous associated cervical spondylomyelopathy (OACSM; n = 41), acute intervertebral disk extrusion (IVDE; 31), meningioma (11), spinal arachnoid diverticulum (10) and vertebral arch anomalies (7). Overall 54% (95% CI 45.25-64.75) of dogs were neurologically worse 48 h post-operatively. Multivariate statistical analysis identified four factors significantly related to early post-operative neurological outcome. Diagnoses of OACSM or meningioma were considered the strongest variables to predict early post-operative neurological deterioration, followed by higher (more severely affected) neurological grade before surgery and longer surgery time. This information can aid in the management of expectations of clinical staff and owners with dogs undergoing these surgical procedures. Copyright © 2015 Elsevier Ltd. All rights reserved.

Toxicity implications for early life stage Japanese medaka (Oryzias latipes) exposed to oxyfluorfen.

PubMed

Powe, Doris K; Dasmahapatra, Asok K; Russell, Joseph L; Tchounwou, Paul B

2018-05-01

We investigated the potential toxic effects of Oxyfluorfen (OXY), an herbicide used in agriculture, on the embryo-larval development of Japanese medaka fish (Oryzias latipes). Embryos (1-day postfertilization) and larvae (2-day posthatch) were exposed to OXY (0.5-8 mg/L) for 96 h and evaluated for mortality and hatching on embryos, and the mortality and growth on larvae during depuration. It was observed that the embryo-mortality was inconsistently altered by OXY; only the 2 mg/L group showed significant reduction on embryo survivability. However, larval-mortality was concentration-dependent and OXY exposure induced scoliosis-like phenotypic features in the surviving larvae; the calculated LC 50 was 5.238 mg/L. Our data further indicated that larval skeleton, both axial and appendicular, was the potential target site of OXY. Skeletal growth in larvae exposed to 2 mg/L was inhibited significantly until 1 week of depuration with regard to the linear lengths of neurocranium, Meckel's cartilage, caudal vertebrae (first 10) in the axial skeletons, and pectoral fin and urostyle in the appendicular skeletons. Moreover, the total protein content remained unaltered by OXY after 96 h exposure; while the RNA concentration was reduced significantly in larvae exposed to 2 mg/L. Expression analysis of several genes by quantitative real-time RT-PCR (RT-qPCR) showed significant upregulation of zic5, a zinc-finger type transcription regulator, at the transcription level. This study indicated that the scoliosis induced by OXY in Japanese medaka larvae was the result of stunted skeletal growth, probably because of deregulation of zinc-finger type transcription regulators, at the genomic level. © 2018 Wiley Periodicals, Inc.

Ernst Haeckel's ontogenetic recapitulation: irritation and incentive from 1866 to our time.

PubMed

Sander, Klaus

2002-11-01

Ernst Haeckel (1834-1919) must count among the most widely known biologists of his time. His monographs on radiolarian skeletons, sponges and medusae immediately became standard works, owing partly to lavish illustrations that later on culminated in his "Art Forms in Nature", which markedly influenced the "art nouveau" of the early 20th century. Haeckel's main impact, however, came from his numerous popular books that were crucial in transferring Darwin's ideas to continental Europe. Haeckel's main addition was his claim that ontogeny recapitulates phylogeny. It was partly founded on pre-Darwinian observations by J.F. Meckel and K.E. v. Baer who noticed that vertebrate embryos of different species resemble each other more strongly during early ontogenesis than later on. Wishing to illustrate this clearly, Haeckel clandestinely generalized some figures showing early embryos of animals and Man. This "fraud" provided ammunition for his many adversaries, most of whom felt provoked by his antireligious campaigns. The resulting controversies continued well into the 20th century but then subsided. Quite recently, however, they have flared up again, perhaps in connection with progress in molecular embryology that revealed an amazing evolutionary conservation of genes and their cooperation in signal transduction chains. The scientific publications that triggered this flare, and a selection of "Letters to the Editor" in both international science magazines and the German popular press, serve here to show that Haeckel's idea of recapitulation, while having proven its heuristic value, is still causing considerable irritation. This results from the widespread intuition that the marvels of ontogenesis and other biological phenomena must reflect some "intelligent design" rather than Darwinian evolution.

The Umbilical Benz Incision for Reduced Port Surgery in Pediatric Patients

PubMed Central

Amano, Hizuru; Kawashima, Hiroshi; Deie, Kyoichi; Murase, Naruhiko; Makita, Satoshi; Yokota, Kazuki; Tanaka, Yujiro

2015-01-01

Background and Objectives: For reduced port surgery in pediatric patients, the initial umbilical incision plays an important role in both functional ability and cosmetic impact. Larger umbilical incisions enable better manipulation of forceps, extraction of larger surgical specimens, and easier exteriorization of the intestine for anastomosis. We have pursued an incision of the small pediatric umbilicus that allows for enlargement of the orifice of the abdominal opening with preservation of the natural umbilical profile. This article aims to present a new umbilical incision technique and describe the outcomes. Methods: We devised a new umbilical incision technique for reduced port surgery in pediatric patients. Our incision is made in an inverted Y shape (Benz incision), allowing for access port device insertion. The Benz incision technique was applied between November 2010 and May 2014 and was retrospectively studied. Results: Seventy-five patients underwent Benz incisions. The median age of all patients was 6 years 6 months (range, 26 days to 18 years), and the median body weight was 21.7 kg (range, 3.1–54.3 kg). Benz incisions were applied for various procedures, including reduced port surgery with hepaticojejunostomy for congenital biliary dilatation, portojejunostomy for biliary atresia, Meckel diverticulectomy, tumor resection, varicocelectomy, cholecystectomy, splenectomy, ileus surgery, ileocecal resection, and total colectomy. All patients were successfully treated, without a significant increase in operating time or severe complications. The cosmetic profile of the umbilicus was maintained after surgery. Conclusion: The Benz incision is a feasible, effective, and scarless approach for reduced port surgery in pediatric patients whose umbilical rings are too small for the conventional approach. PMID:25848185

Forkhead transcription factor foxe1 regulates chondrogenesis in zebrafish.

PubMed

Nakada, Chisako; Iida, Atsumi; Tabata, Yoko; Watanabe, Sumiko

2009-12-15

Forkhead transcription factor (Fox) e1 is a causative gene for Bamforth-Lazarus syndrome, which is characterized by hypothyroidism and cleft palate. Applying degenerate polymerase chain reaction using primers specific for the conserved forkhead domain, we identified zebrafish foxe1 (foxe1). Foxe1 is expressed in the thyroid, pharynx, and pharyngeal skeleton during development; strongly expressed in the gill and weakly expressed in the brain, eye, and heart in adult zebrafish. A loss of function of foxe1 by morpholino antisense oligo (MO) exhibited abnormal craniofacial development, shortening of Meckel's cartilage and the ceratohyals, and suppressed chondrycytic proliferation. However, at 27 hr post fertilization, the foxe1 MO-injected embryos showed normal dlx2, hoxa2, and hoxb2 expression, suggesting that the initial steps of pharyngeal skeletal development, including neural crest migration and specification of the pharyngeal arch occurred normally. In contrast, at 2 dpf, a severe reduction in the expression of sox9a, colIIaI, and runx2b, which play roles in chondrocytic proliferation and differentiation, was observed. Interestingly, fgfr2 was strongly upregulated in the branchial arches of the foxe1 MO-injected embryos. Unlike Foxe1-null mice, normal thyroid development in terms of morphology and thyroid-specific marker expression was observed in foxe1 MO-injected zebrafish embryos. Taken together, our results indicate that Foxe1 plays an important role in chondrogenesis during development of the pharyngeal skeleton in zebrafish, probably through regulation of fgfr2 expression. Furthermore, the roles reported for FOXE1 in mammalian thyroid development may have been acquired during evolution. (c) 2009 Wiley-Liss, Inc.

Teratological Effects of a Panel of Sixty Water-Soluble Toxicants on Zebrafish Development

PubMed Central

Ali, Shaukat; Aalders, Jeffrey

2014-01-01

Abstract The zebrafish larva is a promising whole-animal model for safety pharmacology, environmental risk assessment, and developmental toxicity. This model has been used for the high-throughput toxicity screening of various compounds. Our aim here is to identify possible phenotypic markers of teratogenicity in zebrafish embryos that could be used for the assaying compounds for reproductive toxicity. We have screened a panel of 60 water-soluble toxicants to examine their effects on zebrafish development. A total of 22,080 wild-type zebrafish larvae were raised in 250 μL defined buffer in 96-well plates at a plating density of one embryo per well. They were exposed for a 96-h period starting at 24 h post-fertilization. A logarithmic concentration series was used for range-finding, followed by a narrower geometric series for developmental toxicity assessment. A total of 9017 survivors were analyzed at 5 days post-fertilization for nine phenotypes, namely, (1) normal, (2) pericardial oedema, (3) yolk sac oedema, (4) melanophores dispersed, (5) bent tail tip, (6) bent body axis, (7) abnormal Meckel's cartilage, (8) abnormal branchial arches, and (9) uninflated swim bladder. For each toxicant, the EC50 (concentration required to produce one or more of these abnormalities in 50% of embryos) was also calculated. For the majority of toxicants (55/60) there was, at the population level, a statistically significant, concentration-dependent increase in the incidence of abnormal phenotypes among survivors. The commonest abnormalities were pericardial oedema, yolk sac oedema, dispersed melanophores, and uninflated swim bladder. It is possible therefore that these could prove to be general indicators of reproductive toxicity in the zebrafish embryo assay. PMID:24650241

Super-Resolution Imaging Reveals TCTN2 Depletion-Induced IFT88 Lumen Leakage and Ciliary Weakening.

PubMed

Weng, Rueyhung Roc; Yang, T Tony; Huang, Chia-En; Chang, Chih-Wei; Wang, Won-Jing; Liao, Jung-Chi

2018-06-01

The primary cilium is an essential organelle mediating key signaling activities, such as sonic hedgehog signaling. The molecular composition of the ciliary compartment is distinct from that of the cytosol, with the transition zone (TZ) gated the ciliary base. The TZ is a packed and organized protein complex containing multiple ciliopathy-associated protein species. Tectonic 2 (TCTN2) is one of the TZ proteins in the vicinity of the ciliary membrane, and its mutation is associated with Meckel syndrome. Despite its importance in ciliopathies, the role of TCTN2 in ciliary structure and molecules remains unclear. Here, we created a CRISPR/Cas9 TCTN2 knockout human retinal pigment epithelial cell line and conducted quantitative analysis of geometric localization using both wide-field and super-resolution microscopy techniques. We found that TCTN2 depletion resulted in partial TZ damage, loss of ciliary membrane proteins, leakage of intraflagellar transport protein IFT88 toward the basal body lumen, and cilium shortening and curving. The basal body lumen occupancy of IFT88 was also observed in si-RPGRIP1L cells and cytochalasin-D-treated wild-type cells, suggesting varying lumen accessibility for intraflagellar transport proteins under different perturbed conditions. Our findings support two possible models for the lumen leakage of IFT88, i.e., a tip leakage model and a misregulation model. Together, our quantitative image analysis augmented by super-resolution microscopy facilitates the observation of structural destruction and molecular redistribution in TCTN2 -/- cilia, shedding light on mechanistic understanding of TZ-protein-associated ciliopathies. Copyright © 2018 Biophysical Society. Published by Elsevier Inc. All rights reserved.

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

PubMed

Barny, Iris; Perrault, Isabelle; Michel, Christel; Soussan, Mickael; Goudin, Nicolas; Rio, Marlène; Thomas, Sophie; Attié-Bitach, Tania; Hamel, Christian; Dollfus, Hélène; Kaplan, Josseline; Rozet, Jean-Michel; Gerard, Xavier

2018-05-16

CEP290 mutations cause a spectrum of ciliopathies from Leber congenital amaurosis type 10 (LCA10) to embryo-lethal Meckel syndrome (MKS). Using panel-based molecular diagnosis testing for inherited retinal diseases, we identified two individuals with some preserved vision despite biallelism for presumably truncating CEP290 mutations. The first one carried a homozygous 1 base-pair deletion in exon 17, introducing a premature termination codon (PTC) in exon 18 (c.1666del; p.Ile556Phefs*17). mRNA analysis revealed a basal exon skipping (BES) of exon 18, providing mutant cells with the ability to escape protein truncation, while disrupting the reading frame in controls. The second individual harbored compound heterozygous nonsense mutations in exon 8 (c.508A>T, p.Lys170*) and exon 32 (c.4090G>T, p.Glu1364*), respectively. Some CEP290 lacking exon 8 were detected in mutant fibroblasts but not in controls whereas some skipping of exon 32 occurred in both lines, but with higher amplitude in the mutant. Considering that the deletion of either exon maintains the reading frame in either line, skipping in mutant cells likely involves nonsense-associated altered splicing (NAS) alone (exon 8), or with BES (exon 32). Skipping of PTC-containing exons in mutant cells allowed production of CEP290 isoforms with preserved ability to assemble into a high molecular weight complex and to interact efficiently with proteins important for cilia formation and intraflagellar trafficking. In contrast, studying LCA10 and MKS fibroblasts we show moderate to severe cilia alterations, providing support for a correlation between disease severity and the ability of cells to express shortened, yet functional, CEP290 isoforms.

Transverse preputial onlay island flap urethroplasty for single-stage correction of proximal hypospadias.

PubMed

Singal, Arbinder Kumar; Dubey, Manish; Jain, Viral

2016-07-01

Transverse preputial onlay island flap urethroplasty (TPOIF) was described initially for distal hypospadias, but has seen extended application for proximal hypospadias. We describe a set of modifications in the technique and results in a large series of proximal hypospadias. All children who underwent TPOIF repair for proximal hypospadias (proximal penile, penoscrotal and scrotal) from June 2006 to June 2013 by a single surgeon were prospectively followed till June, 2014. A standard technique and postoperative protocol were followed. Salient points to be emphasized in the technique: (1) dissection of the dartos pedicle till penopubic junction to prevent penile torsion, (2) incorporation of the spongiosum in the urethroplasty, (3) midline urethral plate incision in glans (hinging the plate), (4) Dartos blanket cover on whole urethroplasty. Out of 136 children with proximal hypospadias, 92 children who underwent TPOIF formed the study group. Out of 92 children, 48 (52 %) children required a tunica albuginea plication for chordee correction. In total, 16 (17 %) patients developed 24 complications and 11 children (12 %) required second surgeries: fistula closure in 7 (with meatoplasty in 5), glansplasty for glans dehiscence in 2 and excision of diverticulum in 2. Two children required a third surgery. Only 5 children had a noticeable penile torsion (less than 30 degree), and 7 had a patulous meatus. Transverse preputial onlay island flap urethroplasty can deliver reliable cosmetic and functional outcomes in proximal hypospadias.

Spontaneous alteration from Rathke's cleft cyst to craniopharyngioma--possible involvement of transformation between these pathologies.

PubMed

Ogawa, Yoshikazu; Watanabe, Mika; Tominaga, Teiji

2014-12-01

Both Rathke's cleft cyst and craniopharyngioma are considered to arise from the remnants of Rathke's diverticulum despite the quite different histological characteristics. These two lesions may consist of a disease spectrum extending from Rathke's cleft cyst to craniopharyngioma. However, in spite of increasing evidence of these intermediate histologies, very few cases of the actual transformation from Rathke's cleft cyst to craniopharyngioma have been reported in the same patient. A 47-year-old man suffered from recurrent visual dysfunction. Aspiration and partial cystectomy was performed to a suprasellar massive cystic lesion. The histological diagnosis was Rathke's cleft cyst with a small component of squamous metaplasia. Seven months later, the cyst was re-expanded. The cyst wall was irregularly thickened. Re-operation was performed, and the thickened anterior wall was widely removed. Postoperative histological examination showed multiplication of stratified squamous epithelia forming a papillary arrangement. Ki-67 staining showed positive cells randomly distributed not only in the basal layer but also in various epithelial layers, with a labeling index of more than 20 %. The histological diagnosis was squamous papillary type of craniopharyngioma with high potential of proliferation. Subsequent immunohistochemical examinations showed positive reaction to cytokeratin 8 only in the initial epithelium and negative in the latter epithelium. The present case was thought as an actual evidence of the proposed link between Rathke's cleft cyst and craniopharyngioma. Cytokeratin 8 could be the important examination to differentiate Rathke's cleft cyst from craniopharyngioma.

Urinary tract infection associated with conditions causing urinary tract obstruction and stasis, excluding urolithiasis and neuropathic bladder.

PubMed

Heyns, C F

2012-02-01

The aim of this study was to examine urinary tract infection (UTI) associated with conditions causing urinary tract obstruction and stasis, excluding urolithiasis and neuropathic bladder dysfunction. An electronic literature search was performed using the key words urinary tract infection (UTI), benign prostatic hyperplasia (BPH), hydronephrosis, obstruction, reflux, diverticulum, urethra, and stricture. In total, 520 abstracts were reviewed, 210 articles were studied in detail, and 36 were included as references. It is one of the axioms of Urological practice that urinary tract obstruction and stasis predispose to UTI. Experimental studies indicate that, whereas transurethral inoculates of bacteria are rapidly eliminated from the normal bladder, urethral obstruction leads to cystitis, pyelonephritis, and bacteremia. BPH is, next to urolithiasis, the most common cause of urinary tract obstruction predisposing to UTI. Urethral stricture remains a common cause of UTI in many parts of the world. Urinary stasis in diverticula of the urethra or bladder predisposes to UTI. Experimental studies have shown that, whereas the normal kidney is relatively resistant to infection by organisms injected intravenously, ureteric obstruction predisposes to pyelonephritis. It also causes renal dysfunction which impairs the excretion of antibiotics in the urine, making eradication of bacteria difficult. In patients with UTI and urinary tract obstruction, targeted antibiotic treatment according to urine culture should be complemented with urgent drainage (bladder catheterization, percutaneous nephrostomy or ureteric stenting) followed by definitive surgery to remove the cause of obstruction or stasis once infection is under control.

Multiple huge epiphrenic esophageal diverticula with motility disease treated with video-assisted thoracoscopic and hand-assisted laparoscopic esophagectomy: a case report.

PubMed

Taniguchi, Yoshiki; Takahashi, Tsuyoshi; Nakajima, Kiyokazu; Higashi, Shigeyoshi; Tanaka, Koji; Miyazaki, Yasuhiro; Makino, Tomoki; Kurokawa, Yukinori; Yamasaki, Makoto; Takiguchi, Shuji; Mori, Masaki; Doki, Yuichiro

2017-12-01

Epiphrenic esophageal diverticulum is a rare condition that is often associated with a concomitant esophageal motor disorder. Some patients have the chief complaints of swallowing difficulty and gastroesophageal reflux; traditionally, such diverticula have been resected via right thoracotomy. Here, we describe a case with huge multiple epiphrenic diverticula with motility disorder, which were successfully resected using a video-assisted thoracic and laparoscopic procedure. A 63-year-old man was admitted due to dysphagia, heartburn, and vomiting. An esophagogram demonstrated an S-shaped lower esophagus with multiple epiphrenic diverticula (75 × 55 mm and 30 × 30 mm) and obstruction by the lower esophageal sphincter (LES). Esophageal manometry showed normal peristaltic contractions in the esophageal body, whereas the LES pressure was high (98.6 mmHg). The pressure vector volume of LES was 23,972 mmHg 2  cm. Based on these findings, we diagnosed huge multiple epiphrenic diverticula with a hypertensive lower esophageal sphincter and judged that resection might be required. We performed lower esophagectomy with gastric conduit reconstruction using a video-assisted thoracic and hand-assisted laparoscopic procedure. The postoperative course was uneventful, and the esophagogram demonstrated good passage, with no leakage, stenosis, or diverticula. The most common causes of mid-esophageal and epiphrenic diverticula are motility disorders of the esophageal body; appropriate treatment should be considered based on the morphological and motility findings.

Complicated jejunal diverticula as surgical emergency: experience at a tertiary care hospital in Peshawar, Pakistan.

PubMed

Ahmed, Ijaz; Naeem, Mohammad; Samad, Ambreen; Nasir, Amir; Aman, Zahid; Ahmed, Siddique; Manan, Fazal

2010-01-01

Diverticula of small intestine are rare. Jejunal diverticula can be single or multiple. Diverticula in the jejunum tend to be large and multiple. Clinically they may be asymptomatic or may give rise to symptoms like pain, flatulence and borborygmi, may produce malabsorption syndrome or may present in emergency with different acute pathologies like perforation, haemorrhage, obstruction, enterolith formation and inflammation. The Objective was to see the pattern of complications in jejunal diverticula presenting as a surgical emergency. This descriptive study was conducted at Surgical Units of the 3 tertiary care Hospitals of Peshawar, for 7 years from January 1, 2002 to December 31, 2008. Study included all patients presenting to and admitted in Surgical Unit, Hayatabad Medical Complex, Peshawar with complicated jejunal diverticula during the above mentioned period. Name, age, sex, other relevant data, history and examination findings and results of investigation were recorded. Uncomplicated jejuna diverticula were excluded from study. The operative findings and the type of complication were recorded. Ten patients were admitted during 7 years of study. Out of all patients 9 were male and 1 was female. Eight out of 10 patients presented with perforation of diverticula while 1 patient had severe inflammation of diverticulum causing pain, ileus and acute abdomen. One patient had acute pain due to adhesion formation. It is seen that complicated jejunal diverticulae are quite rare and the most common complication is perforation. Inflammation and adhesion are other complications with which jejunal diverticula presented during this study.

Covered Biodegradable Stent: New Therapeutic Option for the Management of Esophageal Perforation or Anastomotic Leak

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

Cerna, Marie; Koecher, Martin, E-mail: martin.kocher@seznam.cz; Valek, Vlastimil

2011-12-15

Purpose: This study was designed to evaluate our experience with the treatment of postoperative anastomotic leaks and benign esophageal perforations with covered biodegradable stents. Materials and Methods: From 2008 to 2010, we treated five men with either an anastomotic leak or benign esophageal perforation by implanting of covered biodegradable Ella-BD stents. The average age of the patients was 60 (range, 38-74) years. Postoperative anastomotic leaks were treated in four patients (1 after esophagectomy, 1 after resection of diverticulum, 2 after gastrectomy). In one patient, perforation occurred as a complication of the treatment of an esophageal rupture (which occurred during amore » balloon dilatation of benign stenosis) with a metallic stent. Results: Seven covered biodegradable stents were implanted in five patients. Primary technical success was 100%. Clinical success (leak sealing) was achieved in four of the five patients (80%). Stent migration occurred in three patients. In two of these patients, the leak had been sealed by the time of stent migration, therefore no reintervention was necessary. In one patient an additional stent had to be implanted. Conclusion: The use of biodegradable covered stents for the treatment of anastomotic leaks or esophageal perforations is technically feasible and safe. The initial results are promising; however, larger number of patients will be required to evaluate the capability of these biodegradable stents in the future. The use of biodegradable material for coverage of the stent is essential.« less

COMPUTED TOMOGRAPHIC ANATOMY AND CHARACTERISTICS OF RESPIRATORY ASPERGILLOSIS IN JUVENILE WHOOPING CRANES

PubMed Central

Kelley, Cristin; Pinkerton, Marie E.; Hartup, Barry K.

2015-01-01

Respiratory diseases are a leading cause of morbidity and mortality in captivity reared, endangered whooping cranes (Grus americana). Objectives of this retrospective, case series, cross‐sectional study were to describe computed tomography (CT) respiratory anatomy in a juvenile whooping crane without respiratory disease, compare CT characteristics with gross pathologic characteristics in a group of juvenile whooping cranes with respiratory aspergillosis, and test associations between the number of CT tracheal bends and bird sex and age. A total of 10 juvenile whooping cranes (one control, nine affected) were included. Seven affected cranes had CT characteristics of unilateral extrapulmonary bronchial occlusion or wall thickening, and seven cranes had luminal occlusion of the intrapulmonary primary or secondary bronchi. Air sac membrane thickening was observed in three cranes in the cranial and caudal thoracic air sacs, and air sac diverticulum opacification was observed in four cranes. Necropsy lesions consisted of severe, subacute to chronic, focally extensive granulomatous pathology of the trachea, primary bronchi, lungs, or air sacs. No false positive CT scan results were documented. Seven instances of false negative CT scan results occurred; six of these consisted of subtle, mild air sacculitis including membrane opacification or thickening, or the presence of small plaques found at necropsy. The number of CT tracheal bends was associated with bird age but not sex. Findings supported the use of CT as a diagnostic test for avian species with respiratory disease and tracheal coiling or elongated tracheae where endoscopic evaluation is impractical. PMID:26592357

Pelvic fracture urethral distraction defects in children managed by anterior sagittal trans anorectal approach: a facilitating and safe access.

PubMed

Onofre, Luciano Silveira; Leão, Jovelino Quintino de Souza; Gomes, Adriano Luis; Heinisch, Antonio Carlos; Leão, Fernanda Ghilardi; Carnevale, José

2011-06-01

Trauma injuries of the posterior urethra resulting from pelvic fracture in children tend to be complete ruptures, with upper dislocation of the prostate. This paper aims to show our experience in using an anterior sagittal transanorectal approach (ASTRA) in the treatment of such injuries. The medical records of 11 patients with pelvic fracture urethral distraction defects who had undergone anastomotic urethroplasty through ASTRA between 1997 and 2009 were reviewed. Ages ranged from 1 year and 6 months to 23 years (mean age 11 years). Of the 11 patients, 8 had previously undergone failed urethroplasties. In 10 patients it was possible to perform tension free urethroplasty. One patient required inferior pubectomy and separation of the corpora cavernosa. Patients' follow-up time varied from 10 months to 10 years and 9 months (mean 41 months). One patient had a urethral fistula and evolved with a urethral diverticulum successfully managed by diverticulectomy. One patient presented a urethral stenosis managed by urethral dilatation. Of the 11 patients, 9 presented functional urethral flow and are continent. Two patients had no urethral flow. One is undergoing bladder catheterization through the Mitrofanoff principle and the other one through the urethra. No patient presented fecal incontinence or rectourethral fistula. This access, which is increasingly being used to approach posterior urethral diseases, has proved to be safe and effective in the treatment of pelvic fracture urethral distraction defects. Copyright © 2011 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Blunt Traumatic Aortic Injury of Right Aortic Arch in a Patient with an Aberrant Left Subclavian Artery

PubMed Central

Yeo, Daryl Li-Tian; Haider, Sajjad; Zhen, Claire Alexandra Chew

2015-01-01

Right-sided aortic arch (RAA) is a rare congenital developmental variant present in about 0.1 percent of the population. This anatomical anomaly is commonly associated with congenital heart disease and complications from compression of mediastinal structures. However, it is unknown if patients are at a higher risk of blunt thoracic aortic injury (BTAI). We report a case of a 20-year-old man admitted to the hospital after being hit by an automobile. Computed tomographic scan revealed an RAA with an aberrant left subclavian artery originating from a Kommerell’s diverticulum. A pseudo-aneurysm was also seen along the aortic arch. A diagnosis of blunt traumatic aortic injury was made. The patient was successfully treated with a 26mm Vascutek hybrid stentgraft using the frozen elephant trunk technique. A literature review of the pathophysiology of BTAI was performed to investigate if patients with right-sided aortic arch are at a higher risk of suffering from BTAI. Results from the review suggest that although theoretically there may be a higher risk of BTAI in RAA patients, the rarity of this condition has prevented large studies to be conducted. Previously reported cases of BTAI in RAA have highlighted the possibility that the aortic isthmus may be anatomically weak and therefore prone to injury. We have explored this possibility by reviewing current literature of the embryological origins of the aortic arch and descending aorta. PMID:25745378

Mounier-Kuhn syndrome (tracheobronchomegaly): An analysis of eleven cases.

PubMed

Akgedik, Recep; Karamanli, Harun; Kizilirmak, Deniz; Kurt, Ali Bekir; Öztürk, Hasan; Yildirim, Berna Botan; Çakir, Lütfullah

2018-03-01

Mounier-Kuhn syndrome (MKS) is a congenital disorder characterized by tracheobronchomegaly resulting from the absence of elastic fibers in the trachea and main bronchi or atrophy and thinning of the smooth muscle layer. In this syndrome, dead space associated with tracheobronchomegaly increases and discharge of secretions decreases because of ineffective coughing. The most common complications are recurrent lower respiratory tract infections and bronchiectasis. We examined the clinical characteristics, radiological features, and related complications of patients with MKS. The cases were obtained between September 2007 and November 2015. Computed tomography scans of the chest were used to diagnose tracheobronchomegaly. All cases (a total of 11) were males with a mean age of 63 ± 13 (range, 38-80) years. The mean diameter of the trachea was 31.53 ± 2.99 mm; the mean transverse diameter was 31.69 ± 3.10 mm and the mean sagittal diameter was 31.36 ± 3.01 mm. Complaints at the time of presentation included chronic cough, purulent sputum, dyspnea, and hemoptysis. There were recurrent pulmonary infections in seven cases, bronchiectasis in six, and tracheal diverticulum in four at the time of diagnosis. In this article, 11 cases with various rarely seen complications are presented and evaluated in the light of current literature. We recommend that if chronic cough, recurrent pulmonary infections, and bronchiectasis seen in a patient, MKS should be kept in mind. © 2017 John Wiley & Sons Ltd.

Barium swallow study in routine clinical practice: a prospective study in patients with chronic cough*,**

PubMed Central

Nin, Carlos Shuler; Marchiori, Edson; Irion, Klaus Loureiro; Paludo, Artur de Oliveira; Alves, Giordano Rafael Tronco; Hochhegger, Daniela Reis; Hochhegger, Bruno

2013-01-01

OBJECTIVE: To assess the routine use of barium swallow study in patients with chronic cough. METHODS: Between October of 2011 and March of 2012, 95 consecutive patients submitted to chest X-ray due to chronic cough (duration > 8 weeks) were included in the study. For study purposes, additional images were obtained immediately after the oral administration of 5 mL of a 5% barium sulfate suspension. Two radiologists systematically evaluated all of the images in order to identify any pathological changes. Fisher's exact test and the chi-square test for categorical data were used in the comparisons. RESULTS: The images taken immediately after barium swallow revealed significant pathological conditions that were potentially related to chronic cough in 12 (12.6%) of the 95 patients. These conditions, which included diaphragmatic hiatal hernia, esophageal neoplasm, achalasia, esophageal diverticulum, and abnormal esophageal dilatation, were not detected on the images taken without contrast. After appropriate treatment, the symptoms disappeared in 11 (91.6%) of the patients, whereas the treatment was ineffective in 1 (8.4%). We observed no complications related to barium swallow, such as contrast aspiration. CONCLUSIONS: Barium swallow improved the detection of significant radiographic findings related to chronic cough in 11.5% of patients. These initial findings suggest that the routine use of barium swallow can significantly increase the sensitivity of chest X-rays in the detection of chronic cough-related etiologies. PMID:24473762

Morphological and taxonomic descriptions of a new genus and species of killifishes (Teleostei: Cyprinodontiformes) from the high Andes of northern Chile

PubMed Central

Arratia, Gloria; Vila, Irma; Lam, Natalia; Guerrero, Claudia Jimena

2017-01-01

A new genus and species, Pseudorestias lirimensis, is described from the southern part of the Chilean Altiplano. While sharing several characters that clearly align the new species with Orestias, this new fish is characterized by numerous autapomorphies: the Meckel cartilage is a continuous cartilage that broadly expands posteriorly (in large specimens, it keeps its anterior part and is resorbed posteriorly), the basibranchials are fused into one long element, the second pharyngobranchial is not displaced dorsally over pharyngobranchial tooth plate 3+4, but they are aligned, the anterior and posterior ceratohyals are closely articulated keeping a scarce amount of cartilage between both bones and ventral to them, ossified middle and distal dorsal radials are present in females as well as ossified middle and distal anal radials. Pseudorestias lirimensis presents strong sexual dimorphism associated to size. Females are almost twice as large and long than males, neuromast lines are absent in males, a mesethmoid is present in males, squamation on head is reduced in males, and ossified middle and distal radial of dorsal fin are cartilaginous in males. Pseudorestias and Orestias are suggested as the sole members of the tribe Orestiini. A list of characters diagnosing the tribe is provided. The presence of the new genus is interpreted as a possible result of the ecosystem isolation where the fish is living from surrounding basins—as early as possibly from the Miocene-Pliocene times—and its physical and chemical characteristics. Small populations, living conditions, small habitat, and reduced distribution make this species a strong candidate to be considered critically endangered, a situation already established for all other Chilean species living in the Altiplano. There is high probability it will become extinct due to water demands and climate change in the region. PMID:28792510

A role for FoxN3 in the development of cranial cartilages and muscles in Xenopus laevis (Amphibia: Anura: Pipidae) with special emphasis on the novel rostral cartilages

PubMed Central

Schmidt, Jennifer; Schuff, Maximilian; Olsson, Lennart

2011-01-01

The origin of morphological novelties is a controversial topic in evolutionary developmental biology. The heads of anuran larvae have several unique structures, including the supra- and infrarostral cartilages, the specialised structure of the gill basket (used for filtration), and novel cranial muscle arrangements. FoxN3, a member of the forkhead/winged helix family of transcription factors, has been implicated as important for normal craniofacial development in the pipid anuran Xenopus laevis. We have investigated the effects of functional knockdown of FoxN3 (using antisense oligonucleotide morpholino) on the development of the larval head skeleton and the associated cranial muscles in X. laevis. Our data complement earlier studies and provide a more complete account of the requirement of FoxN3 in chondrocranium development. In addition, we analyse the effects of FoxN3 knockdown on cranial muscle development. We show that FoxN3 knockdown primarily affects the novel skeletal structures unique to anuran larvae, i.e. the rostralia or the fine structure of the gill apparatus. The articulation between the infrarostral and Meckel's cartilage is malformed and the filigreed processes of the gill basket do not develop. Because these features do not develop after FoxN3 knockdown, the head morphology resembles that in the less specialised larvae of salamanders. Furthermore, the development of all cartilages derived from the neural crest is delayed and cranial muscle fibre development incomplete. The cartilage precursors initially condense in their proper position but later differentiate incompletely; several visceral arch muscles start to differentiate at their origin but fail to extend toward their insertion. Our findings indicate that FoxN3 is essential for the development of novel cartilages such as the infrarostral and other cranial tissues derived from the neural crest and, indirectly, also for muscle morphogenesis. PMID:21050205

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.

PubMed

Quintana, Anita M; Yu, Hung-Chun; Brebner, Alison; Pupavac, Mihaela; Geiger, Elizabeth A; Watson, Abigail; Castro, Victoria L; Cheung, Warren; Chen, Shu-Huang; Watkins, David; Pastinen, Tomi; Skovby, Flemming; Appel, Bruce; Rosenblatt, David S; Shaikh, Tamim H

2017-08-01

CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin (vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a transcriptional co-regulator which interacts with multiple transcription factors, have been associated with cblX. HCFC1 regulates cobalamin metabolism via the regulation of MMACHC expression through its interaction with THAP11, a THAP domain-containing transcription factor. The HCFC1/THAP11 complex potentially regulates genes involved in diverse cellular functions including cell cycle, proliferation, and transcription. Thus, it is likely that mutation of THAP11 also results in biochemical and other phenotypes similar to those observed in patients with cblX. We report a patient who presented with clinical and biochemical phenotypic features that overlap cblX, but who does not have any mutations in either MMACHC or HCFC1. We sequenced THAP11 by Sanger sequencing and discovered a potentially pathogenic, homozygous variant, c.240C > G (p.Phe80Leu). Functional analysis in the developing zebrafish embryo demonstrated that both THAP11 and HCFC1 regulate the proliferation and differentiation of neural precursors, suggesting important roles in normal brain development. The loss of THAP11 in zebrafish embryos results in craniofacial abnormalities including the complete loss of Meckel's cartilage, the ceratohyal, and all of the ceratobranchial cartilages. These data are consistent with our previous work that demonstrated a role for HCFC1 in vertebrate craniofacial development. High throughput RNA-sequencing analysis reveals several overlapping gene targets of HCFC1 and THAP11. Thus, both HCFC1 and THAP11 play important roles in the regulation of cobalamin metabolism as well as other pathways involved in early vertebrate development. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Cartilage and bone malformations in the head of zebrafish (Danio rerio) embryos following exposure to disulfiram and acetic acid hydrazide

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

Strecker, Ruben, E-mail: Ruben.Strecker@cos.uni-heidelberg.de; Weigt, Stefan, E-mail: stefan.weigt@merckgroup.com; Braunbeck, Thomas, E-mail: braunbeck@uni-hd.de

In order to investigate teratogenic effects, especially on cartilage and bone formation, zebrafish embryos were exposed for 144 h to the dithiocarbamate pesticide disulfiram (20–320 μg/L) and acetic acid hydrazide (0.375–12 g/L), a degradation product of isoniazid. After fixation and full-mount staining, disulfiram could be shown to induce strong cartilage malformations after exposure to ≥ 80 μg/L, whereas acetic acid hydrazide caused cartilage alterations only from 1.5 g/L. Undulating notochords occurred after exposure to disulfiram even at the lowest test concentration of 20 μg/L, whereas at the two lowest concentrations of acetic acid hydrazide (0.375 and 0.75 g/L) mainly fracturesmore » of the notochord were observed. Concentrations of acetic acid hydrazide ≥ 1.5 g/L resulted in undulated notochords similar to disulfiram. Cartilages and ossifications of the cranium, including the cleithrum, were individually analyzed assessing the severity of malformation and the degree of ossification in a semi-quantitative approach. Cartilages of the neurocranium such as the ethmoid plate proved to be more stable than cartilages of the pharyngeal skeleton such as Meckel's cartilage. Hence, ossification proved significantly more susceptible than cartilage. The alterations induced in the notochord as well as in the cranium might well be of ecological relevance, since notochord malformation is likely to result in impaired swimming and cranial malformation might compromise regular food uptake. - Highlights: ► Disulfiram and acetic acid hydrazide as notochord, cartilage and bone teratogens ► Zebrafish embryos to model effects on single cartilages and bones in the head ► LC50 calculation and head length measurements after six days post-fertilization ► Lethality, head length and teratogenic effects are dose-dependent. ► Cartilages of the neurocranium are the most stable elements in the head.« less

Effects of prolonged exposure to perchlorate on thyroid and reproductive function in zebrafish

USGS Publications Warehouse

Mukhi, S.; Patino, R.

2007-01-01

The objectives of this study were to determine the effects of prolonged exposure to perchlorate on (1) thyroid status and reproductive performance of adult zebrafish (Danio rerio) and (2) F1 embryo survival and early larval development. Using a static-renewal procedure, mixed sex populations of adult zebrafish were exposed to 0, 10, and 100 mg/l nominal concentrations of waterborne perchlorate for 10 weeks. Thyroid histology was qualitatively assessed, and females and males were separated and further exposed to their respective treatments for six additional weeks. Eight females in each tank replicate (n = 3) were paired weekly with four males from the same respective treatment, and packed-egg (spawn) volume (PEV) was measured each of the last five weeks. At least once during weeks 14-16 of exposure, other end points measured included fertilization rate, fertilized egg diameter, hatching rate, standard length, and craniofacial development of 4-day-postfertilization larvae and thyroid hormone content of 3.5-h embryos and of exposed mothers. At 10 weeks of exposure, perchlorate at both concentrations caused thyroidal hypertrophy and colloid depletion. A marked reduction in PEV was observed toward the end of the 6-week spawning period, but fertilization and embryo hatching rates were unaffected. Fertilized egg diameter and larval length were increased by parental exposure to perchlorate. Larval head depth was unaffected but the forward protrusion of the lower jaw-associated cartilage complexes, Meckel's and ceratohyal, was decreased. Exposure to both concentrations of perchlorate inhibited whole-body thyroxine content in mothers and embryos, but triiodothyronine content was unchanged. In conclusion, prolonged exposure of adult zebrafish to perchlorate not only disrupts their thyroid endocrine system but also impairs reproduction and influences early F1 development. ?? 2007 Oxford University Press.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

PubMed Central

Slaats, Gisela G.; Isabella, Christine R.; Kroes, Hester Y.; Dempsey, Jennifer C.; Gremmels, Hendrik; Monroe, Glen R.; Phelps, Ian G.; Duran, Karen J.; Adkins, Jonathan; Kumar, Sairam A.; Knutzen, Dana M.; Knoers, Nine V.; Mendelsohn, Nancy J.; Neubauer, David; Mastroyianni, Sotiria D.; Vogt, Julie; Worgan, Lisa; Karp, Natalya; Bowdin, Sarah; Glass, Ian A.; Parisi, Melissa A.; Otto, Edgar A.; Johnson, Colin A.; Hildebrandt, Friedhelm; van Haaften, Gijs; Giles, Rachel H.; Doherty, Dan

2016-01-01

Background Joubert syndrome (JS) is a recessive ciliopathy characterized by a distinctive brain malformation “the molar tooth sign”. Mutations in >27 genes cause JS, and mutations in 12 of these genes also cause Meckel syndrome (MKS). The goals of this work are to describe the clinical features of MKS1-related JS and determine whether disease causing MKS1 mutations affect cellular phenotypes such as cilium number, length and protein content as potential mechanisms underlying JS. Methods We measured cilium number, length and protein content (ARL13B and INPP5E) by immunofluorescence in fibroblasts from individuals with MKS1-related JS and in a 3D spheroid rescue assay to test the effects of disease-related MKS1 mutations. Results We report MKS1 mutations (eight of them previously unreported) in nine individuals with JS. A minority of the individuals with MKS1-related JS have MKS features. In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry ≥1 non-truncating mutation. Fibroblasts from individuals with MKS1-related JS make normal or fewer cilia than control fibroblasts, their cilia are more variable in length than controls, and show decreased ciliary ARL13B and INPP5E. Additionally, MKS1 mutant alleles have similar effects in 3D spheroids. Conclusions MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content, through an ARL13B-dependent mechanism. Mutations in INPP5E also cause JS, so our findings in patient fibroblasts support the notion that loss of INPP5E function, due to either mutation or mislocalization, is a key mechanism underlying JS, downstream of MKS1 and ARL13B. PMID:26490104

Cloning and localization of MCdef, a defensin from Manila clams (Ruditapes philippinarum).

PubMed

Adhya, Mausumi; Jeung, Hee-Do; Kang, Hyun-Sil; Choi, Kwang-Sik; Lee, Dong Sun; Cho, Moonjae

2012-01-01

A defensin-like peptide was previously detected in hemocytes of Manila clams (Ruditapes philippinarum). In the current study, we cloned and characterized this defensin, designated MCdef. Cloning produced a full-length gene sequence of 201 bp predicted to encode a 66-amino-acid precursor protein maturing to a 44-amino-acid residue. Amino acid sequence analysis showed that MCdef is similar to defensins from marine mollusks and ticks. Phylogenetic analysis suggested that MCdef is closely related to defensins from Mytilus galloprovincialis (Mediterranean mussel) and Crassostrea gigas (Pacific cupped oyster). The three-dimensional structure of MCdef was modeled using the solution structure of C. gigas defensin as a template. With the exception of three variable loop areas, the modeled structure of MCdef was identical to that of C. gigas defensin. MCdef antiserum was raised against a synthetic MCdef peptide and verified by Western blotting using recombinant MCdef. RT-PCR analysis demonstrated high levels of MCdef mRNA in hemocytes and adductor, foot, gill, mantle, palp, and siphon tissues of Vibrio tapetis-infected Manila clams, whereas in V. tapetis-uninfected Manila clams, the level of MCdef mRNA was low in adductor, palp, and siphon tissues and even lower in the other tested tissues. Immunohistochemical analysis revealed high MCdef expression was detected in the gill, the mantle, and the digestive tubules of the diverticulum of V. tapetis-infected Manila clams. Minimum inhibitory concentration (MIC) of the purified rMCdef was determined. MCdef showed highest activity against Streptococcus iniae and Staphylococcus aureus. Copyright © 2011 Elsevier Inc. All rights reserved.

Endoscopic management of foreign bodies in the upper-GI tract: experience with 1088 cases in China.

PubMed

Li, Zhao-Shen; Sun, Zhen-Xing; Zou, Duo-Wu; Xu, Guo-Ming; Wu, Ren-Pei; Liao, Zhuan

2006-10-01

Reports on endoscopic management of ingested foreign bodies of the upper-GI tract in China are scarce. To report our experience and outcome in the management of ingestion of foreign bodies in Chinese patients. Between January 1980 and January 2005, a total of 1088 patients (685 men and 403 women; age range, 1 day to 96 years old) with suspected foreign bodies were admitted to our endoscopy center. All patients underwent endoscopic procedure after admission. Demographic and endoscopic data, including age, sex, and referral sources of patients, types, number and location of foreign bodies, associated upper-GI diseases, endoscopic methods, and accessory devices for removal of foreign bodies were collected and analyzed. A total of 1090 foreign bodies were found in 988 (90.8%) patients. The types of foreign bodies varied greatly: mainly food boluses, coins, fish bones, dental prostheses, or chicken bones. The foreign bodies were located in the pharynx (n = 12), the esophagus (n = 577), the stomach (n = 441), the duodenum (n = 50), and the surgical anastomosis (n = 10). The associated GI diseases (n = 88) included esophageal carcinoma (33.0%), stricture (23.9%), diverticulum (15.9%), postgastrectomy (11.4%), hiatal hernia (10.2%), and achalasia (5.7%). A rat-tooth forceps and a snare were the most frequently used accessory devices. The success rate for foreign-body removal was 94.1% (930/988). Ingestion of foreign bodies is a common clinic problem in China. Endoscopy procedures are frequently performed, and a high proportion of patients with foreign bodies require endoscopic intervention.

Left atrial accessory appendages, diverticula, and left-sided septal pouch in multi-slice computed tomography. Association with atrial fibrillation and cerebrovascular accidents.

PubMed

Hołda, Mateusz K; Koziej, Mateusz; Wszołek, Karolina; Pawlik, Wiesław; Krawczyk-Ożóg, Agata; Sorysz, Danuta; Łoboda, Piotr; Kuźma, Katarzyna; Kuniewicz, Marcin; Lelakowski, Jacek; Dudek, Dariusz; Klimek-Piotrowska, Wiesława

2017-10-01

The aim of this study is to provide a morphometric description of the left-sided septal pouch (LSSP), left atrial accessory appendages, and diverticula using cardiac multi-slice computed tomography (MSCT) and to compare results between patient subgroups. Two hundred and ninety four patients (42.9% females) with a mean of 69.4±13.1years of age were investigated using MSCT. The presence of the LSSP, left atrial accessory appendages, and diverticula was evaluated. Multiple logistic regression analysis was performed to check whether the presence of additional left atrial structures is associated with increased risk of atrial fibrillation and cerebrovascular accidents. At least one additional left atrial structure was present in 51.7% of patients. A single LSSP, left atrial diverticulum, and accessory appendage were present in 35.7%, 16.0%, and 4.1% of patients, respectively. After adjusting for other risk factors via multiple logistic regression, patients with LSSP are more likely to have atrial fibrillation (OR=2.00, 95% CI=1.14-3.48, p=0.01). The presence of a LSSP was found to be associated with an increased risk of transient ischemic attack using multiple logistic regression analysis after adjustment for other risk factors (OR=3.88, 95% CI=1.10-13.69, p=0.03). In conclusion LSSPs, accessory appendages, and diverticula are highly prevalent anatomic structures within the left atrium, which could be easily identified by MSCT. The presence of LSSP is associated with increased risk for atrial fibrillation and transient ischemic attack. Copyright © 2017 Elsevier B.V. All rights reserved.

Double intestinal duplication and incidental neuroendocrine tumor of appendix, a rare case of acute abdomen

PubMed Central

Bellanova, G.; Valduga, P.; Costa, A.; Barbareschi, M.; De Carli, N.; Giannelli, G.; Di Sipio, A.; Prezzi, C.; Ciarleglio, F.A.; Beltempo, P.; Marcucci, S.; Giacomin, D.; Depretis, G.; Brolese, A.

2015-01-01

Introduction Intestinal duplication is rarely reported in adulthood and often remains undiagnosed until onset of complications. We describe the case of a 39 year old woman who came to our observation for acute abdomen due to a combination of double intestinal duplication (colon and ileum) and an incidental neuroendocrine tumor of the appendix. Materials and methods A 39 year old woman who was admitted at with upper abdominal pain. Multisliced spiral CT scan showed a cystic lesion suggestive of an inflammed Meckel’s diverticulum.The patient was underwent an urgent explorative laparoscopy. The intraoperative findings revealed a cystic lesion of the anti-mesenteric side of transverse colon, apparently dissectable from the bowel and a second lesion with a strongly adherent and unresectable from the anti-mesenteric aspect of the small bowel. A combined appendectomy was also performed. The histological diagnosis was consistent with a typical intestinal duplication for both intestinal lesionsand an incidental 2 mm carcinoid tumor was also found in the appendix. The postoperative course was uneventful and the patient was discharged on p.o. day 5. At the presenttime she is well and following a regular oncologic follow-up. Discussion The rarity of this case is due to the concomitant presence of an incidental, sincronous, appendiceal NET. The elective treatment is surgical resection. Conclusion Intestinal duplication in the adulthood is extremely rare and may either have an acute presentation as acute abdomen or represents an incidental finding of mass. We suggest that, once the diagnosis is suspected patient must undergo surgery. PMID:26188982

Congenital left ventricular aneurysms and diverticula: an entity in search of an identity.

PubMed

Ohlow, Marc-Alexander

2017-12-01

Congenital left ventricular aneurysm or diverticulum are rare cardiac malformations described in 809 cases since the first description in 1816, being associated with other cardiac, vascular or thoraco-abdominal abnormalities in about 70%. It appears to be a developmental anomaly, starting in the 4 th embryonic week. In an experimental study, targeted knockdown of cardiac troponin T in the chick was performed at day 3, after the heart tube has formed. Morpholino treatment of gene TNNT2 at this stage led to the development of left ventricular diverticula (LVD) in the primitive left ventricular wall. Diagnosis of left ventricular aneurysms (LVA)/LVD can be made after exclusion of coronary artery disease, local or systemic inflammation or traumatic causes as well as cardiomyopathies. Clinically, most of LVA and LVD are asymptomatic or may cause systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia or sudden cardiac death. Diagnosis is established by imaging studies (echocardiography, magnetic resonance imaging or left ventricular angiography) visualizing the structural changes and accompanying abnormalities. Mode of treatment has to be individually tailored and depends on clinical presentation, accompanying abnormalities and possible complications, options include surgical resection (especially in symptomatic patients), anticoagulation after systemic embolization, radiofrequency ablation or implantation of an implantable cardioverter defibrillator (ICD) in case of symptomatic ventricular tachycardias, and occasionally combined with class I- or III-antiarrhythmic drugs. Cardiac death occurs usually in childhood, is significantly more frequent in LVA patients and caused by congestive heart failure in most of the cases, whereas patients diagnosed with LVD died more frequently from rupture of the LVD.

Impact of food on hepatic clearance of patients after endoscopic sphincterotomy.

PubMed

Chan, Hoi-Hung; Lai, Kwok-Hung; Lin, Chiun-Ku; Tsai, Wei-Lun; Peng, Nan-Jing; Hsu, Ping-I; Lo, Gin-Ho; Wei, Min-Ching; Wang, E-Ming; Chang, Hsueh-Wen

2009-01-01

The recurrence rate of common bile duct stones (CBDS) is around 3-21% after treatment by endoscopic sphincterotomy (ES). Fatty meal has been shown to improve hepatic clearance in both patients with intact gallbladder and post-cholecystectomy after ES. This study tested the effects of different kinds of food on hepatic clearance by using quantitative cholescintigraphy (QC) in patients after ES. Forty-seven patients after ES with abnormal QC were enrolled in our study. Complete ablation of sphincter function was confirmed by sphincter of Oddi manometry. Fasting QC was done in every patient shortly after normalization of liver function, and then followed with low-fat and fatty-meal QC. Each of the 47 subjects was observed for the effect on hepatic clearance at 3 different levels of treatments (diets and fasting). Additionally, possible factors responsible for recurrent CBDS were investigated by means of logistic regression. Both fatty and low-fat meals could significantly improve hepatic clearance compared with fasting in most patients after ES. But the response to food types was individualized. All patients tolerated the meals well. There was no significant relationship between the recurrence of CBDS and sex, age, intact gallbladder and presence of juxtapapillary diverticulum, CBD size, and improvement in hepatic clearance (> or = 5%) by food. Both fatty and low-fat meals improved hepatic clearance in most of the patients with CBDS after ES, but the response to meals was individualized. Therefore, there is no need to restrict the amount of fat intake for patients who have undergone ES.

Expanding living kidney donor criteria with ex-vivo surgery for renal anomalies

PubMed Central

McGregor, Thomas B.; Rampersad, Christie; Patel, Premal

2016-01-01

Introduction: Renal transplantation remains the gold standard treatment for end-stage renal disease, with living donor kidneys providing the best outcomes in terms of allograft survival. As the number of patients on the waitlist continues to grow, solutions to expand the donor pool are ongoing. A paradigm shift in the eligibility of donors with renal anomalies has been looked at as a potential source to expand the living donor pool. We sought to determine how many patients presented with anatomic renal anomalies at our transplant centre and describe the ex-vivo surgical techniques used to render these kidneys suitable for transplantation. Methods: A retrospective review was performed of all patients referred for surgical suitability to undergo laparoscopic donor nephrectomy between January 2011 and January 2015. Patient charts were analyzed for demographic information, perioperative variables, urological histories, and postoperative outcomes. Results: 96 referrals were identified, of which 81 patients underwent laparoscopic donor nephrectomy. Of these patients, 11 (13.6%) were identified as having a renal anomaly that could potentially exclude them from the donation process. These anomalies included five patients with unilateral nephrolithiasis, four patients with large renal cysts (>4 cm diameter), one patient with an angiomyolipoma (AML) and one patient with a calyceal diverticulum filled with stones. A description of the ex-vivo surgical techniques used to correct these renal anomalies is provided. Conclusions: We have shown here that ex-vivo surgical techniques can safely and effectively help correct some of these renal anomalies to render these kidneys transplantable, helping to expand the living donor pool. PMID:27800047

The Surgeon Volume-outcome Relationship: Not Yet Ready for Policy.

PubMed

Modrall, J Gregory; Minter, Rebecca M; Minhajuddin, Abu; Eslava-Schmalbach, Javier; Joshi, Girish P; Patel, Shivani; Rosero, Eric B

2018-05-01

Increasing surgeon volume may improve outcomes for index operations. We hypothesized that there may be surrogate operative experiences that yield similar outcomes for surgeons with a low-volume experience with a specific index operation, such as esophagectomy. The relationship between surgeon volume and outcomes has potential implications for credentialing of surgeons. Restrictions of privileges based on surgeon volume are only reasonable if there is no substitute for direct experience with the index operation. This study was aimed at determining whether there are valid surrogates for direct experience with a sample index operation-open esophagectomy. The Nationwide Inpatient Sample (2003-2009) was utilized. Surgeons were stratified into low and high-volume groups based on annual volume of esophagectomy. Surrogate volume was defined as the aggregate annual volume per surgeon of upper gastrointestinal operations including excision of esophageal diverticulum, gastrectomy, gastroduodenectomy, and repair of diaphragmatic hernia. In all, 26,795 esophagectomies were performed nationwide (2003-2009), with a crude inhospital mortality rate of 5.2%. Inhospital mortality decreased with increasing volume of esophagectomies performed annually: 7.7% and 3.8% for low and high-volume surgeons, respectively (P < 0.0001). Among surgeons with a low-volume esophagectomy experience, increasing volume of surrogate operations improved the outcomes observed for esophagectomy: 9.7%, 7.1%, and 4.3% for low, medium, and high-surrogate-volume surgeons, respectively (P = 0.016). Both operation-specific volume and surrogate volume are significant predictors of inhospital mortality for esophagectomy. Based on these observations, it would be premature to limit hospital privileges based solely on operation-specific surgeon volume criteria.

[Diagnosis and management of pulsatile tinnitus of venous origin].

PubMed

Zhang, Yibo; Wang, Wuqing; Dai, Chunfu; Chen, Liang

2010-03-01

To discuss the diagnosis and management of pulsatile tinnitus of venous origin. A retrospective study was conducted on 12 patients who were diagnosed with pulsatile tinnitus of venous origin and treated with ligation of internal jugular veins. We reevaluated the evidences of identifying pulsatile tinnitus of venous origin and reviewed the short-term and long-term postoperative effects and complications. We also reviewed associated articles in this report. Seven patients got relief of tinnitus in less than one week after the surgery, while the other 5 patients had no relief. Seven patients were inquired in this study and the other five lost to follow-up. According to the long review (from one to five years postoperatively), two patients who acquired immediate effect got relief of tinnitus, four including complained of no relief and the seventh aggravated into roaring. Three patients who got no immediate relief got no improvement at all. No one in our review complained of any complications. It's assumed that a history of pulsatile tinnitus, alleviation of tinnitus when pressing jugular veins, tinnitus changing with head position or posture and no occupying lesion in temporal CT scan or cranial MRI are inadequate in diagnosing pulsatile tinnitus of venous origin. Vascular imaging is also necessary to exclude other pathological changes like dura arteriovenous fistula, sigmoid diverticulum and so on. CT arteriography and venography are recommended preferentially. Ligation of internal jugular veins is controversial in patients who have no absence of transverse and sigmoid sinus and identified as pulsatile tinnitus of venous origin.

Imaging prevalence of sigmoid sinus dehiscence among patients with and without pulsatile tinnitus.

PubMed

Schoeff, Stephen; Nicholas, Brian; Mukherjee, Sugoto; Kesser, Bradley W

2014-05-01

Define the radiographic prevalence of sigmoid sinus diverticulum or dehiscence (SSDD) in patients with and without pulsatile tinnitus (PT). Case series with chart review. Tertiary care university medical center. Patients imaged between January 1, 2003, and December 31, 2012. Two groups were evaluated for SSDD. The first ("PT") included patients whose radiology report indicated a clinical history of PT (n = 37 symptomatic ears in 30 patients). The second ("non-PT") included all patients undergoing temporal bone high resolution CT (HRCT) between November 2011 and November 2012 (n = 308 ears in 164 patients) for reasons other than pulsatile tinnitus. Primary outcome measure was the radiographic presence of SSDD. Covariates including age, gender, body mass index (BMI), and audiometric data were analyzed by independent t tests and Fisher's exact test. Within the PT group, SSDD was identified in 24% of ears (9/37) and 23% of patients (7/30); all SSDD patients were female (P = .024). Patients with SSDD were significantly younger (P = .037). SSDD more frequently caused objective tinnitus (P = .016). There was no difference in average BMI between those with and those without SSDD. In the non-PT group, SSDD was identified in 2 (both female) of 164 patients (1.2%; 0.6% of ears). The difference in SSDD prevalence between groups was significant (P < .0001). The prevalence of SSDD in patients with PT was 23%. Among patients with PT, those with SSDD were younger, exclusively female, and presented with objective tinnitus. The prevalence of SSDD among asymptomatic patients in 1 year was 1.2%.

Morphology and histology of the alimentary canal of Lygus hesperus (Heteroptera: Cimicomoropha: Miridae)

USGS Publications Warehouse

Habibi, J.; Coudron, T.A.; Backus, E.A.; Brandt, S.L.; Wagner, R.M.; Wright, M.K.; Huesing, J.E.

2008-01-01

Microdissection and transverse semithin sections were used to perform a light microscopy survey of the gross morphology and cellular anatomy of the alimentary canal, respectively, of Lygus hesperus Knight, a key pest of cotton (Gossypium hirsutum L.), alfalfa (Medicago sativa L.), and other crops. The gross morphology of the alimentary canal showed a relatively unadorned tube compared with other hemipterans, with variably shaped compartments and one small diverticulum. However, the epithelial cell anatomy of the gut was relatively complex, with the midgut having the most diverse structure and cell types. The midgut was typical of the "Lygus-type gut" seen in the older literature, i.e., it consisted of three major regions, the first (descending), second (ascending), and third (descending) ventriculi, with different variants of three major epithelial cell types in each region. Our light microscopy (LM) study suggests that the three cell types are nondifferentiated regenerative cells (which sparsely occurred throughout the midgut but were abundant in the anterior region of the first ventriculus), endocrine cells, and columnar cells. Although the Lygus gut cells strongly resemble those cell types seen in other insects, their identification should be confirmed via transmission electron microscopy to be considered definitive. These cell types differed in the size and opacity of vesicles, geometry of cell surface in the gut lumen, and size, shape, and concentration of brush-border microvilli and location within the gut. Comparison of gut structure in L. hesperus with that of other hemipterans, especially in relation to hemipteran phylogeny and feeding strategies, is discussed.

Prevalence and persistence of Taylorella asinigenitalis in male donkeys.

PubMed

Donahue, James M; Timoney, Peter J; Carleton, Carla L; Marteniuk, Judy V; Sells, Stephen F; Meade, Barry J

2012-12-07

This study was undertaken to investigate the prevalence of Taylorella asinigenitalis in a subset of the donkey population of Michigan and in other equids on farms on which the organism was identified. Other aims were to further characterize the carrier state in terms of persistence and preferred sites of colonization of T. asinigenitalis in the male donkey as well as determine the genotype of any isolates of the organism. Initial testing of 43 donkeys and 1 mule turned up 4 (9.3%) donkeys culture positive for T. asinigenitalis. The 4 culture-positive donkeys resided on 2 farms accommodating a collective total of 89 equids, of which 23 (25.8%) were confirmed positive for T. asinigenitalis. The positive equid population on the 2 farms comprised 14 (67%) of 21 gelded donkeys, 8 (36.4%) of 22 intact male donkeys, and 1 (25%) of 4 gelded horses. T. asinigenitalis was not isolated from 27 female donkeys, 11 female horses, 2 female mules, 1 male horse, or 1 male mule resident on these premises. Isolations of the bacterium were obtained from a number of male donkeys whenever they were sampled over a span of 33 months; preferential sites of isolation were the urethral fossa (fossa glandis), dorsal diverticulum of the urethral sinus, and terminal urethra. Isolates of T. asinigenitalis from the 23 culture-positive equids comprised 2 genotypes, one identical to the type strain isolated in California in 1997, and the other identical to 2 strains isolated from donkey jacks in Kentucky in 1998. Copyright © 2012 Elsevier B.V. All rights reserved.

Clinical spectrum of patients with erosion of the inner ear by jugular bulb abnormalities.

PubMed

Friedmann, David R; Le, B Thuy; Pramanik, Bidyut K; Lalwani, Anil K

2010-02-01

Anatomic variants of the jugular bulb (JB) are common; however, abnormalities such as large high riding JB and JB diverticulum (JBD) are uncommon. Rarely, the abnormal JB may erode into the inner ear. The goal of our study is to report a large series of patients with symptomatic JB erosion into the inner ear. Retrospective review in an academic medical center. Eleven patients with JB abnormality eroding into the inner ear were identified on computed tomography (CT) scan of the temporal bone. Age at presentation was from 5 years to 82 years with six males and five females. The large JB or JBD eroded into the vestibular aqueduct (n = 9) or the posterior semicircular canal (n = 4). The official radiology report usually identified the JB abnormality; however, erosion into these structures by the JB was not mentioned in all but one case. All patients were symptomatic with five having conductive hearing loss (CHL) and three complaining of pulsatile tinnitus. Those with pulsatile tinnitus and four of five with CHL had erosion into the vestibular aqueduct. Vestibular evoked myogenic potential (VEMP) findings in three of six patients were consistent with dehiscence of the inner ear. High riding large JB or JBD can erode into the inner ear and may be associated with CHL and/or pulsatile tinnitus. CT scan is diagnostic and should be examined specifically for these lesions. As patients with pulsatile tinnitus may initially undergo a magnetic resonance imaging scan, identification of JB abnormality should prompt CT scan or VEMP testing to evaluate for inner ear erosion.

The Guy's stone score--grading the complexity of percutaneous nephrolithotomy procedures.

PubMed

Thomas, Kay; Smith, Naomi C; Hegarty, Nicholas; Glass, Jonathan M

2011-08-01

To report the development and validation of a scoring system, the Guy's stone score, to grade the complexity of percutaneous nephrolithotomy (PCNL). Currently, no standardized method is available to predict the stone-free rate after PCNL. The Guy's stone score was developed through a combination of expert opinion, published data review, and iterative testing. It comprises 4 grades: grade I, solitary stone in mid/lower pole or solitary stone in the pelvis with simple anatomy; grade II, solitary stone in upper pole or multiple stones in a patient with simple anatomy or a solitary stone in a patient with abnormal anatomy; grade III, multiple stones in a patient with abnormal anatomy or stones in a caliceal diverticulum or partial staghorn calculus; grade IV, staghorn calculus or any stone in a patient with spina bifida or spinal injury. It was assessed for reproducibility using the kappa coefficient and validated on a prospective database of 100 PCNL procedures performed in a tertiary stone center. The complications were graded using the modified Clavien score. The clinical outcomes were recorded prospectively and assessed with multivariate analysis. The Guy's stone score was the only factor that significantly and independently predicted the stone-free rate (P = .01). It was found to be reproducible, with good inter-rater agreement (P = .81). None of the other factors tested, including stone burden, operating surgeon, patient weight, age, and comorbidity, correlated with the stone-free rate. The Guy's stone score accurately predicted the stone-free rate after PCNL. It was easy to use and reproducible. Copyright © 2011 Elsevier Inc. All rights reserved.

[PEDIATRIC GASTROENTEROLOGY: ORIGINS, PROBLEMS, AND PROSPECTS OF THE RESEARCH].

PubMed

Zaprudnov, A M; Kharitonova, L A; Grigoriev, K I; Bogomaz, L V

2015-01-01

The nomenclature of digestive diseases in children was supplemented by the "new" diseases: of esophagus--gastroesophageal reflux disease (GERD), Barrett's esophagus, Zenker's diverticulum; of stomach and duodenum--gastroduodenitis, peptic ulcer disease, polyps, ectopic pancreas in the stomach wall; of the intestine--jejunitis, ileocolitis, Crohn's disease, celiac disease, bacterial overgrowth syndrome in the small intestine; of biliary tract--cholelithiasis, gallbladder cholesterosis, anomalies of the biliary tract; of pancreas--acute and chronic pancreatitis, annular pancreas (2). The features of gastrointestinal diseases in children experiencing the action of factors, not always positively affecting the growing organism, were established. These features include: presence of allergic background; high level of neuro-autonomous and psycho-emotional changes in modern children, not only in schoolchildren, but even in preschoolers; polymorbidity or a combination (syntropy) of lesions of the digestive system; adverse outcomes of certain diseases as chronization, complications development, and as a consequence--a high risk of disability in children; "rejuvenation" of certain diseases of the digestive system (cholelithiasis, gallbladder cholesterosis, Crohn's disease), typical for adults. It is important to emphasize the clinical and social importance of gastroenterological diseases in childhood. Axiomatic is that the origins of many diseases of the digestive organs in adults lie in childhood. Early manifestation of certain diseases such as peptic ulcer disease, gluten enteropathy, Crohn's disease, and others, significantly impact the quality of life of sick children and their parents. It is worth to emphasize high costs of medical and prophylactic (tertiary prevention) activities using the drugs of latest generations. All this causes problems in both applied and scientific pediatric gastroenterology.

Indications and Outcomes of Endoscopic CO2 Laser Cricopharyngeal Myotomy

PubMed Central

Bergeron, Jennifer L.; Chhetri, Dinesh K.

2015-01-01

Objectives/Hypothesis To describe indications, management, and outcomes of endoscopic CO2 laser cricopharyngeal myotomy (CPM). Study Design Case series with chart review. Methods All patients treated with endoscopic CO2 laser CPM over a 6-year period were identified. A retrospective chart review was performed for surgical indication, history and physical examinations, and swallow evaluations. Swallowing outcomes were assessed using the Functional Outcome Swallowing Scale (FOSS); findings were compared across groups. Results Eighty-seven patients underwent endoscopic CO2 laser CPM during the study period for cricopharyngeal dysfunction. Indications included Zenker’s diverticulum (ZD) (39), DiGeorge syndrome (two), stroke (five), nerve injury (two), radiation for head and neck cancer (15), idiopathic (16), hyperfunctional tracheoesophageal speech (five) and dysphagia from cricopharyngeus stricture after laryngectomy (three). Mean, median, and mode time to feeding postoperatively were 1.4, 1, and 0 days respectively. Mean, median, and mode hospital stays were 1.8, 1, and 1 day respectively. Overall, FOSS scores improved from 2.6 to 1.6 (P < .001). Improvement was greatest for patients with ZD (2.4 to 1.0) and cricopharyngeal dysfunction from nerve injury (3.3 to 1.8) and least for those with prior radiation (3.9 to 3.2). All patients undergoing CPM for poor tracheoesophageal speech regained speech postoperatively. No patients developed mediastinitis, abscess, or fistula. Conclusions Endoscopic CO2 laser CPM is a safe treatment for cricopharyngeal dysfunction of various causes, though swallowing outcomes may vary depending on the surgical indication. Early feeding postoperatively after CPM is safe and facilitates early hospital discharge. PMID:24114581

Surgical Repair of Mid-shaft Hypospadias Using a Transverse Preputial Island Flap and Pedicled Dartos Flap Around Urethral Orifice.

PubMed

Liang, Weiqiang; Ji, Chenyang; Chen, Yuhong; Zhang, Ganling; Zhang, Jiaqi; Yao, Yuanyuan; Zhang, Jinming

2016-08-01

To evaluate the effects, particularly the incidence of anastomotic fistula, of a pedicled dartos flap around the urethral orifice in the treatment of urethroplasty of mid-shaft hypospadias. A total of 46 cases of congenital mid-shaft hypospadias were included in this study. The patients ranged in age from 0.7 to 25.4 years and the average was 5.8 years. The patients received penis chordee correction. A transverse preputial island flap was developed for urethral reconstruction. The proximal dartos of the urethral orifice was used to develop a pedicled dartos flap, which was transposed to cover and strengthen neourethral anastomosis. The ventral penile skin defect was repaired by another flap. The 46 patients were examined during follow-up visits for 6 months to 3 years. An anastomotic fistula was observed in one case (2.2 %). Scar healing without fistula was observed in another patient due to poor blood supply to part of the ventral penile skin. No other incidences of fistula, urethral rupture, flap necrosis, wound infections, urinary tract (meatal) stenosis, or urethral diverticulum were observed in the patients. A pedicled dartos flap around the urethral orifice can take advantage of well-vascularized local tissue to add a protective layer to the proximal aspect of the neourethral anastomosis for reducing the incidence of anastomotic fistula in mid-shaft hypospadias repair using a transverse preputial island flap. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Risk factors for recurrent symptomatic pigmented biliary stones after percutaneous transhepatic biliary extraction.

PubMed

Kim, Dong Won; Lee, Sang Yun; Cho, Jin-Han; Kang, Myong Jin; Noh, Myung Hwan; Park, Byeong-Ho

2010-07-01

To evaluate risk factors for the recurrence of biliary stones after a percutaneous transhepatic biliary stone extraction. The procedures were performed on 339 patients between July 2004 and December 2008 (54 months). Medical records and images were retrospectively reviewed for 135 patients (mean age, 66.4 years; 83 men and 52 women) who had undergone follow-up for a mean of 13.2 months (range, 3-37 months). To evaluate risk factors for the recurrence of biliary stones, variables were evaluated with univariate and multivariate analyses. Variables included sex, age, stone location, number of stones, stone size, presence of a peripapillary diverticulum, application of antegrade sphincteroplasty, presence of a biliary stricture, largest biliary diameter before the procedure, and gallbladder status. Thirty-three of the 135 patients (24%) had recurrent symptomatic biliary stones and underwent an additional extraction. The mean time to recurrence was 17.2 months +/- 8.7. Univariate analysis of risk factors for recurrence of biliary stones demonstrated that location, number of stones, stone size, application of antegrade sphincteroplasty, presence of a biliary stricture, and biliary diameter were significant factors (P < .05). With use of multivariate analysis, the number of stones (> or =6; relative risk, 64.8; 95% confidence interval: 5.8, 717.6) and stone size (> or =14 mm; relative risk, 3.8; 95% confidence interval: 1.138, 13.231) were determined to be significant risk factors. The independent risk factors for recurrence of symptomatic biliary stones after percutaneous transhepatic biliary stone extraction were a stone size of at least 14 mm and the presence of at least six stones. Copyright 2010 SIR. Published by Elsevier Inc. All rights reserved.

The Outlet Patch: Gastric Heterotopia of the Colo-rectum and Anus.

PubMed

Mannan, Abul Ala Syed Rifat; Vieth, Michael; Khararjian, Armen; Khandakar, Binny; Lam-Himlin, Dora; Heydt, David; Bhaijee, Feriyl; Venbrux, Henry J; Byrnes, Kathleen; Voltaggio, Lysandra; Barker, Norman; Yuan, Songyang; Montgomery, Elizabeth

2018-04-18

Gastric heterotopia (GH) has been described throughout the gastrointestinal tract. However, the colorectal region is an extremely rare location for it. We describe the clinicopathologic features of GH of the colon, rectum, and anus. We identified 33 cases in 20 males and 13 females (median age 54 years; range, 4 months to 73 years). Sites included the rectum (N=26), anus (N=4), ileocecal junction (N=1), ascending colon (N=1) and descending colon (N=1). Presenting symptoms(N=27) included hematochezia (41%) and altered bowel habits (4%); 15 patients (55%) were asymptomatic. On colonoscopy (N=31), all appeared as solitary lesions, (median size 6.5 mm, range 2 mm - 55 mm), either as polyps (61%), raised erythematous patches (23%), an ulcer(10%), within a rectal diverticulum (3%), or a hemorrhoid (3%). Patients were managed by polypectomy. One with an associated carcinoma in the area of GH underwent resection. No morbidity related to GH itself was reported following excision. Histologically, heterotopic gastric mucosa was oxyntic type (85%), mixed oxyntic and non-oxyntic type (12%), and not specified (3%). In 5 patients a pyloric gland adenoma (PGA) arose from heterotopic gastric mucosa, two of which contained a focus of invasive adenocarcinoma. One case had associated surface foveolar type low-grade dysplasia. Another had associated adenocarcinoma arising from the heterotopic mucosa. One example harbored Helicobacter pylori organisms. We highlight the features of GH in the distal GIT - the 'outlet patch'. Association with PGA, surface dysplasia and adenocarcinoma suggests that lower tract GH can undergo neoplastic transformation. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy.

PubMed

Larsen, Christopher P; Bonsib, Stephen M; Beggs, Marjorie L; Wilson, Jon D

2018-06-24

Nephronophthisis is an autosomal recessive tubulointerstitial nephropathy that is a leading genetic etiology of end stage renal disease in children and young adults. Approximately 60% of patients with a known genetic etiology of nephronophthisis are due to homozygous deletion of the NPHP1 gene. We identified a total of 45 renal biopsies from young patients with chronic kidney disease of undetermined etiology and analyzed them for the possibility of nephronophthisis due to NPHP1 deletion using interphase fluorescence in situ hybridization and/or polymerase chain reaction. Homozygous NPHP1 deletion was identified in nine patients (20%). In cases with adequate tissue, both assays were performed and showed 100% agreement. Blinded histopathologic analysis was then performed and identified six lesions that were significantly more common in biopsies from patients with NPHP1 deletion-proven nephronophthisis than chronic kidney injury of other known etiologies. Many of the classically described nephronophthisis biopsy lesions such as tubular basement membrane duplication, presence of cysts, and mononuclear interstitial inflammation were not significantly associated with this disease when compared with biopsies from patients with chronic kidney injury due to other etiologies. There were, however, morphologic lesions that were strongly associated with NPHP1 deletion including tubular abnormalities such as diverticulum, florets, and macula densa-like change as well as interstitial Tamm-Horsfall aggregates, periglomerular fibrosis, and the absence of arteriosclerosis. Awareness of the histopathologic pattern of injury in nephronophthisis combined with testing for NPHP1 deletion enables renal pathologists to provide a definitive pathologic and genetic diagnosis in a subset of patients with this disease. Copyright © 2018. Published by Elsevier Inc.

Congenital left ventricular aneurysms and diverticula: an entity in search of an identity

PubMed Central

Ohlow, Marc-Alexander

2017-01-01

Congenital left ventricular aneurysm or diverticulum are rare cardiac malformations described in 809 cases since the first description in 1816, being associated with other cardiac, vascular or thoraco-abdominal abnormalities in about 70%. It appears to be a developmental anomaly, starting in the 4th embryonic week. In an experimental study, targeted knockdown of cardiac troponin T in the chick was performed at day 3, after the heart tube has formed. Morpholino treatment of gene TNNT2 at this stage led to the development of left ventricular diverticula (LVD) in the primitive left ventricular wall. Diagnosis of left ventricular aneurysms (LVA)/LVD can be made after exclusion of coronary artery disease, local or systemic inflammation or traumatic causes as well as cardiomyopathies. Clinically, most of LVA and LVD are asymptomatic or may cause systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia or sudden cardiac death. Diagnosis is established by imaging studies (echocardiography, magnetic resonance imaging or left ventricular angiography) visualizing the structural changes and accompanying abnormalities. Mode of treatment has to be individually tailored and depends on clinical presentation, accompanying abnormalities and possible complications, options include surgical resection (especially in symptomatic patients), anticoagulation after systemic embolization, radiofrequency ablation or implantation of an implantable cardioverter defibrillator (ICD) in case of symptomatic ventricular tachycardias, and occasionally combined with class I- or III-antiarrhythmic drugs. Cardiac death occurs usually in childhood, is significantly more frequent in LVA patients and caused by congestive heart failure in most of the cases, whereas patients diagnosed with LVD died more frequently from rupture of the LVD. PMID:29581714

COMPUTED TOMOGRAPHIC ANATOMY AND CHARACTERISTICS OF RESPIRATORY ASPERGILLOSIS IN JUVENILE WHOOPING CRANES.

PubMed

Schwarz, Tobias; Kelley, Cristin; Pinkerton, Marie E; Hartup, Barry K

2016-01-01

Respiratory diseases are a leading cause of morbidity and mortality in captivity reared, endangered whooping cranes (Grus americana). Objectives of this retrospective, case series, cross-sectional study were to describe computed tomography (CT) respiratory anatomy in a juvenile whooping crane without respiratory disease, compare CT characteristics with gross pathologic characteristics in a group of juvenile whooping cranes with respiratory aspergillosis, and test associations between the number of CT tracheal bends and bird sex and age. A total of 10 juvenile whooping cranes (one control, nine affected) were included. Seven affected cranes had CT characteristics of unilateral extrapulmonary bronchial occlusion or wall thickening, and seven cranes had luminal occlusion of the intrapulmonary primary or secondary bronchi. Air sac membrane thickening was observed in three cranes in the cranial and caudal thoracic air sacs, and air sac diverticulum opacification was observed in four cranes. Necropsy lesions consisted of severe, subacute to chronic, focally extensive granulomatous pathology of the trachea, primary bronchi, lungs, or air sacs. No false positive CT scan results were documented. Seven instances of false negative CT scan results occurred; six of these consisted of subtle, mild air sacculitis including membrane opacification or thickening, or the presence of small plaques found at necropsy. The number of CT tracheal bends was associated with bird age but not sex. Findings supported the use of CT as a diagnostic test for avian species with respiratory disease and tracheal coiling or elongated tracheae where endoscopic evaluation is impractical. © 2015 The Authors. Veterinary Radiology & Ultrasound published by Wiley Periodicals, Inc. on behalf of American College of Veterinary Radiology.

Bacterial and fungal microflora on the external genitalia of male donkeys (Equus asinus).

PubMed

Carleton, Carla L; Donahue, J Michael; Marteniuk, Judith V; Sells, Stephen F; Timoney, Peter J

2015-02-01

This study was undertaken to investigate the bacterial and fungal microflora on the external genitalia of a population of healthy male donkeys in the state of Michigan, USA. The aim was to identify and determine the frequency of occurrence of these microorganisms using seven different isolation media and standard microbiological procedures. The sites (urethral fossa [fossa glandis], dorsal diverticulum of the urethral sinus, distal urethra, and penile surface) in the distal reproductive tract were cultured and each isolated microorganism identified. Ten different genera of gram-positive bacteria, eight different genera of gram-negative bacteria, and two genera of fungi were isolated from the external genitalia of the 43 donkeys in this study. All 43 donkeys yielded gram-positive bacteria (2-8 species) from all four sites sampled. Arcanobacterium spp., Corynebacterium spp., and Bacillus spp. were the most frequently isolated gram-positive bacteria. Gram-negative bacteria were cultured from 16 (37.2%) of the 43 donkeys, with Acinetobacterlwoffii (16.3%), Oligella urethralis (11.6%), and Taylorellaasinigenitalis (9.3%), the most frequently isolated. Fungi were cultured from only 5 (11.6%) of the 43 donkeys, with Rhizopus spp. isolated from 3 (7.0%) and Cladosporium spp. from 2 (4.7%) individuals. The testes and epididymides collected from 40 donkeys at time of castration were culture negative. Few differences were found in the bacterial flora between prepubertal and mature intact and castrated donkeys. Of notable interest was the scarcity of known equine pathogens across the population tested and isolation of T. asinigenitalis from normal donkeys, especially prepubertal individuals and previously castrated males. Copyright © 2014 Elsevier B.V. All rights reserved.

Novel methylene blue staining technique for localizing small esophageal leiomyomas during thoracoscopic enucleation.

PubMed

Zhang, Z; Ai, B; Liao, Y; Liu, L; Liu, M

2016-11-01

The treatment of choice for leiomyoma, the most common benign esophageal tumor, is thoracoscopic enucleation. One of the most difficult aspects of thoracoscopic enucleation is the precise localization of small tumors (≤1.5 cm) and tumors without external protrusion. No simple, feasible solutions to this problem are available. We developed a novel methylene blue staining technique to localize small esophageal leiomyomas and evaluated the feasibility of our technique. Between January 2013 and July 2014, eight patients with small esophageal leiomyomas (≤1.5 cm) underwent thoracoscopic enucleation in Tongji Hospital. Preoperative endoscopic ultrasonography was performed in all patients. The leiomyomas were located in the middle (n = 5) and lower (n = 3) thirds of the esophagus. We preoperatively injected 0.5-1.0 mL methylene blue in the submucosa adjacent to the tumors under standard gastroscope guidance. The entire staining process took about 10 minutes. Staining was successful in all patients. The unstained tumor was exposed after the blue-stained mediastinal pleura, and overlying muscle were incised longitudinally. All procedures were successfully completed without conversion to open surgery. No abnormalities were detected in the esophageal mucosa. The median operating time was 60 minutes (range, 40-90 minutes). Postoperative histopathology confirmed leiomyoma in all patients. The median postoperative hospital stay was 6 days (range, 5-7 days). No major complications, such as esophageal leakage or esophageal diverticulum, occurred. Endoscopic methylene blue staining is safe and feasible for localizing small esophageal leiomyomas during thoracoscopic enucleation. This method will enable precise and easy enucleation. © 2015 International Society for Diseases of the Esophagus.

CSF Venous Fistulas in Spontaneous Intracranial Hypotension: Imaging Characteristics on Dynamic and CT Myelography.

PubMed

Kranz, Peter G; Amrhein, Timothy J; Gray, Linda

2017-12-01

The objective of this study is to describe the anatomic and imaging features of CSF venous fistulas, which are a recently reported cause of spontaneous intracranial hypotension (SIH). We retrospectively reviewed the records of patients with SIH caused by CSF venous fistulas who received treatment at our institution. The anatomic details of each fistula were recorded. Attenuation of the veins involved by the fistula was compared with that of adjacent control veins on CT myelography (CTM). Visibility of the CSF venous fistula on CTM and a modified conventional myelography technique we refer to as dynamic myelography was also compared. Twenty-two cases of CSF venous fistula were identified. The fistulas were located between T4 and L1. Ninety percent occurred without a concurrent epidural CSF leak. In most cases (82%), the CSF venous fistula originated from a nerve root sleeve diverticulum. On CTM, the abnormal veins associated with the CSF venous fistula were seen in a paravertebral location in 45% of cases, centrally within the epidural venous plexus in 32%, and lateral to the spine in 23%. Differences in attenuation between the fistula veins and the control veins was highly statistically significant (p < 0.0001), with a threshold of 70 HU perfectly discriminating fistulas from normal veins in our series. When both CTM and dynamic myelography were performed, the fistula was identified on both modalities in 88% of cases. CSF venous fistulas are an important cause of SIH that can be detected on both CTM and dynamic myelograph y and may occur without an epidural CSF leak. Familiarity with the imaging characteristics of these lesions is critical to providing appropriate treatment to patients with SIH.

Wireless capsule endoscopy: a comparison with push enteroscopy in patients with gastroscopy and colonoscopy negative gastrointestinal bleeding

PubMed Central

Mylonaki, M; Fritscher-Ravens, A; Swain, P

2003-01-01

Background: The development of wireless capsule endoscopy allows painless imaging of the small intestine. Its clinical use is not yet defined. The aim of this study was to compare the clinical efficacy and technical performance of capsule endoscopy and push enteroscopy in a series of 50 patients with colonoscopy and gastroscopy negative gastrointestinal bleeding. Methods: A wireless capsule endoscope was used containing a CMOS colour video imager, transmitter, and batteries. Approximately 50 000 transmitted images are received by eight abdominal aerials and stored on a portable solid state recorder, which is carried on a belt. Push enteroscopy was performed using a 240 cm Olympus video enteroscope. Results: Studies in 14 healthy volunteers gave information on normal anatomical appearances and preparation. In 50 patients with gastrointestinal bleeding and negative colonoscopy and gastroscopy, push enteroscopy was compared with capsule endoscopy. A bleeding source was discovered in the small intestine in 34 of 50 patients (68%). These included angiodysplasia (16), focal fresh bleeding (eight), apthous ulceration suggestive of Crohn’s disease (three), tumour (two), Meckel’s diverticulum (two), ileal ulcer (one), jejunitis (one), and ulcer due to intussusception (one). One additional intestinal diagnosis was made by enteroscopy. The yield of push enteroscopy in evaluating obscure bleeding was 32% (16/50). The capsule identified significantly more small intestinal bleeding sources than push enteroscopy (p<0.05). Patients preferred capsule endoscopy to push enteroscopy (p<0.001). Conclusions: In this study capsule endoscopy was superior to push enteroscopy in the diagnosis of recurrent bleeding in patients who had a negative gastroscopy and colonoscopy. It was safe and well tolerated. PMID:12865269

The pterygoclival ligament: a novel landmark for localization of the internal carotid artery during the endoscopic endonasal approach.

PubMed

Tayebi Meybodi, Ali; Little, Andrew S; Vigo, Vera; Benet, Arnau; Kakaizada, Sofia; Lawton, Michael T

2018-05-18

OBJECTIVE The transpterygoid extension of the endoscopic endonasal approach provides exposure of the petrous apex, Meckel's cave, paraclival area, and the infratemporal fossa. Safe and efficient localization of the lacerum segment of the internal carotid artery (ICA) is a crucial part of such exposure. The aim of this study is to introduce a novel landmark for localization of the lacerum ICA. METHODS Ten cadaveric heads were prepared for transnasal endoscopic dissection. The floor of the sphenoid sinus was drilled to expose an extension of the pharyngobasilar fascia between the sphenoid floor and the pterygoid process (the pterygoclival ligament). Several features of the pterygoclival ligament were assessed. In addition, 31 dry skulls were studied to assess features of the bony groove harboring the pterygoclival ligament. RESULTS The pterygoclival ligament was identified bilaterally during drilling of the sphenoid floor in all specimens. The ligament started a few millimeters posterior to the posterior end of the vomer alae and invariably extended posterolaterally and superiorly to blend into the fibrous tissue around the lacerum ICA. The mean length of the ligament was 10.5 ± 1.7 mm. The mean distance between the anterior end of the ligament and midline was 5.2 ± 1.2 mm. The mean distance between the posterior end of the ligament and midline was 12.3 ± 1.4 mm. The bony pterygoclival groove was identified at the confluence of the vomer, pterygoid process of the sphenoid, and basilar part of the occipital bone, running from posterolateral to anteromedial. The mean length of the groove was 7.7 ± 1.8 mm. Its posterolateral end faced the anteromedial aspect of the foramen lacerum medial to the posterior end of the vidian canal. A clinical case illustration is also provided. CONCLUSIONS The pterygoclival ligament is a consistent landmark for localization of the lacerum ICA. It may be used as an adjunct or alternative to the vidian nerve to localize the ICA during

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

PubMed

Bruel, Ange-Line; Franco, Brunella; Duffourd, Yannis; Thevenon, Julien; Jego, Laurence; Lopez, Estelle; Deleuze, Jean-François; Doummar, Diane; Giles, Rachel H; Johnson, Colin A; Huynen, Martijn A; Chevrier, Véronique; Burglen, Lydie; Morleo, Manuela; Desguerres, Isabelle; Pierquin, Geneviève; Doray, Bérénice; Gilbert-Dussardier, Brigitte; Reversade, Bruno; Steichen-Gersdorf, Elisabeth; Baumann, Clarisse; Panigrahi, Inusha; Fargeot-Espaliat, Anne; Dieux, Anne; David, Albert; Goldenberg, Alice; Bongers, Ernie; Gaillard, Dominique; Argente, Jesús; Aral, Bernard; Gigot, Nadège; St-Onge, Judith; Birnbaum, Daniel; Phadke, Shubha R; Cormier-Daire, Valérie; Eguether, Thibaut; Pazour, Gregory J; Herranz-Pérez, Vicente; Goldstein, Jaclyn S; Pasquier, Laurent; Loget, Philippe; Saunier, Sophie; Mégarbané, André; Rosnet, Olivier; Leroux, Michel R; Wallingford, John B; Blacque, Oliver E; Nachury, Maxence V; Attie-Bitach, Tania; Rivière, Jean-Baptiste; Faivre, Laurence; Thauvin-Robinet, Christel

2017-06-01

Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and unpublished results for WES in 24 cases with OFDS. We identified causal variants in five new genes ( C2CD3 , TMEM107 , INTU , KIAA0753 and IFT57 ) and related the clinical spectrum of four genes in other ciliopathies ( C5orf42 , TMEM138 , TMEM231 and WDPCP ) to OFDS. Mutations were also detected in two genes previously implicated in OFDS. Functional studies revealed the involvement of centriole elongation, transition zone and intraflagellar transport defects in OFDS, thus characterising three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the Meckel-Gruber syndrome module, a major component of the transition zone; and the CPLANE complex necessary for IFT-A assembly. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. A clinical classification restricted to the three frequent/well-delineated subtypes could be proposed, and for patients who do not fit one of these three main subtypes, a further classification could be based on the genotype. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

PubMed Central

Li, Chunmei; Kennedy, Julie; Garcia-Gonzalo, Francesc R.; Romani, Marta; De Mori, Roberta; Bruel, Ange-Line; Gaillard, Dominique; Doray, Bérénice; Lopez, Estelle; Rivière, Jean-Baptiste; Faivre, Laurence; Thauvin-Robinet, Christel; Reiter, Jeremy F.; Blacque, Oliver E.; Valente, Enza Maria; Leroux, Michel R.

2016-01-01

Cilia have a unique diffusion barrier (“gate”) within their proximal region, termed transition zone (TZ), that compartmentalises signalling proteins within the organelle. The TZ is known to harbour two functional modules/complexes (Meckel syndrome [MKS] and Nephronophthisis [NPHP]) defined by genetic interaction, interdependent protein localisation (hierarchy), and proteomic studies. However, the composition and molecular organisation of these modules and their links to human ciliary disease are not completely understood. Here, we reveal Caenorhabditis elegans CEP-290 (mammalian Cep290/Mks4/Nphp6 orthologue) as a central assembly factor that is specific for established MKS module components and depends on the coiled coil region of MKS-5 (Rpgrip1L/Rpgrip1) for TZ localisation. Consistent with a critical role in ciliary gate function, CEP-290 prevents inappropriate entry of membrane-associated proteins into cilia and keeps ARL-13 (Arl13b) from leaking out of cilia via the TZ. We identify a novel MKS module component, TMEM-218 (Tmem218), that requires CEP-290 and other MKS module components for TZ localisation and functions together with the NPHP module to facilitate ciliogenesis. We show that TZ localisation of TMEM-138 (Tmem138) and CDKL-1 (Cdkl1/Cdkl2/Cdkl3/Cdlk4 related), not previously linked to a specific TZ module, similarly depends on CEP-290; surprisingly, neither TMEM-138 or CDKL-1 exhibit interdependent localisation or genetic interactions with core MKS or NPHP module components, suggesting they are part of a distinct, CEP-290-associated module. Lastly, we show that families presenting with Oral-Facial-Digital syndrome type 6 (OFD6) have likely pathogenic mutations in CEP-290-dependent TZ proteins, namely Tmem17, Tmem138, and Tmem231. Notably, patient fibroblasts harbouring mutated Tmem17, a protein not yet ciliopathy-associated, display ciliogenesis defects. Together, our findings expand the repertoire of MKS module-associated proteins—including the

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

PubMed

Slaats, Gisela G; Isabella, Christine R; Kroes, Hester Y; Dempsey, Jennifer C; Gremmels, Hendrik; Monroe, Glen R; Phelps, Ian G; Duran, Karen J; Adkins, Jonathan; Kumar, Sairam A; Knutzen, Dana M; Knoers, Nine V; Mendelsohn, Nancy J; Neubauer, David; Mastroyianni, Sotiria D; Vogt, Julie; Worgan, Lisa; Karp, Natalya; Bowdin, Sarah; Glass, Ian A; Parisi, Melissa A; Otto, Edgar A; Johnson, Colin A; Hildebrandt, Friedhelm; van Haaften, Gijs; Giles, Rachel H; Doherty, Dan

2016-01-01

Joubert syndrome (JS) is a recessive ciliopathy characterised by a distinctive brain malformation 'the molar tooth sign'. Mutations in >27 genes cause JS, and mutations in 12 of these genes also cause Meckel-Gruber syndrome (MKS). The goals of this work are to describe the clinical features of MKS1-related JS and determine whether disease causing MKS1 mutations affect cellular phenotypes such as cilium number, length and protein content as potential mechanisms underlying JS. We measured cilium number, length and protein content (ARL13B and INPP5E) by immunofluorescence in fibroblasts from individuals with MKS1-related JS and in a three-dimensional (3D) spheroid rescue assay to test the effects of disease-related MKS1 mutations. We report MKS1 mutations (eight of them previously unreported) in nine individuals with JS. A minority of the individuals with MKS1-related JS have MKS features. In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry ≥ 1 non-truncating mutation. Fibroblasts from individuals with MKS1-related JS make normal or fewer cilia than control fibroblasts, their cilia are more variable in length than controls, and show decreased ciliary ARL13B and INPP5E. Additionally, MKS1 mutant alleles have similar effects in 3D spheroids. MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content, through an ARL13B-dependent mechanism. Mutations in INPP5E also cause JS, so our findings in patient fibroblasts support the notion that loss of INPP5E function, due to either mutation or mislocalisation, is a key mechanism underlying JS, downstream of MKS1 and ARL13B. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Patient Reported Outcomes in Preoperative and Postoperative Patients with Hypospadias.

PubMed

Keays, Melise A; Starke, Nathan; Lee, Simon C; Bernstein, Ira; Snodgrass, Warren T; Bush, Nicol C

2016-04-01

Current outcome tools for hypospadias have limited focus on the caregiver or patient perspective of important patient centered outcomes. In this study we collaborated with patients, caregivers, and lay and medical experts to develop and pilot a patient reported outcome measure for hypospadias. We developed a patient reported outcome measure based on systematic review of the literature and focus group input. The patient reported outcome measure was piloted in caregivers for boys younger than 8 years and in patients older than 8 years who presented for urology consultation before meeting with the surgeon. Patients were classified with uncorrected hypospadias, successful repair or failed repair based on the presence or absence of complications (fistula, diverticulum, meatal stenosis/stricture, greater than 30-degree recurrent curvature, glans dehiscence and/or skin reoperation). A patient reported outcome measure was developed and administered to 347 patients and/or caregivers-proxies, including 105 uncorrected cases, 162 successful repair cases and 80 failed cases. Satisfaction with appearance was highest in those with successful hypospadias repair compared to failed repair and uncorrected hypospadias (93% vs 77% and 67%, respectively). Voiding symptoms such as spraying or a deviated stream were highest in failed and uncorrected cases (39% and 37%, respectively). Overall dissatisfaction with voiding was highest for uncorrected hypospadias and failed repair compared to successful cases (54% and 47%, respectively, vs 15%). The evaluation of patient and caregiver-proxy reported outcomes in preoperative and postoperative patients with hypospadias allows for the quantification of benefits derived from hypospadias repair and may ultimately represent the gold standard outcome measure for hypospadias. This pilot study identified preliminary patient centered themes and demonstrated the feasibility of administering hypospadias patient reported outcome measures in clinical

A review of the surgical management of right-sided aortic arch aneurysms

PubMed Central

Barr, James G.; Sepehripour, Amir H.; Jarral, Omar A.; Tsipas, Pantelis; Kokotsakis, John; Kourliouros, Antonios; Athanasiou, Thanos

2016-01-01

Aneurysms and dissections of the right-sided aortic arch are rare and published data are limited to a few case reports and small series. The optimal treatment strategy of this entity and the challenges associated with their management are not yet fully investigated and conclusive. We performed a systematic review of the literature to identify all patients who underwent surgical or endovascular intervention for right aortic arch aneurysms or dissections. The search was limited to the articles published only in English. We focused on presentation and critically assessed different management strategies and outcomes. We identified 74 studies that reported 99 patients undergoing surgical or endovascular intervention for a right aortic arch aneurysm or dissection. The median age was 61 years. The commonest presenting symptoms were chest or back pain and dysphagia. Eighty-eight patients had an aberrant left subclavian artery with only 11 patients having the mirror image variant of a right aortic arch. The commonest pathology was aneurysm arising from a Kommerell's diverticulum occurring in over 50% of the patients. Twenty-eight patients had dissections, 19 of these were Type B and 9 were Type A. Eighty-one patients had elective operations while 18 had emergency procedures. Sixty-seven patients underwent surgical treatment, 20 patients had hybrid surgical and endovascular procedures and 12 had totally endovascular procedure. There were 5 deaths, 4 of which were in patients undergoing emergency surgery and none in the endovascular repair group. Aneurysms and dissections of a right-sided aortic arch are rare. Advances in endovascular treatment and hybrid surgical and endovascular management are making this rare pathology amenable to these approaches and may confer improved outcomes compared with conventional extensive repair techniques. PMID:27001673

Congenital left ventricular outpouchings: a systematic review of 839 cases and introduction of a novel classification after two centuries.

PubMed

Malakan Rad, Elaheh; Awad, Sawsan; Hijazi, Ziyad M

2014-01-01

Congenital left ventricular outpouchings (LVOs) are reported under five overlapping and poorly defined terms including left ventricular accessory chamber, left ventricular aneurysm (LVA), left ventricular diverticulum (LVD), double-chambered LV, and accessory left ventricle. Diagnostic criteria are frequently mixed and not mutually exclusive. They convey no information regarding treatment strategy and prognosis. The aim of this systematic review is to provide a clear and inclusive classification, with therapeutic and prognostic implications, for congenital LVOs. We performed three separate sets of search on three subjects including "congenital left ventricular outpouchings," "important and simply measurable markers of left ventricular function," and "relationship of mechanics of intraventricular blood flow and optimal vortex formation in left ventricle and elliptical geometry of LV." We enrolled case series, review articles, and case reports with literature review. All types of acquired LVO's were excluded. We studied the abstracts of all searched articles. We focused on diagnostic criteria and patients' outcome. To examine the validity and reliability of the novel classification, fifteen previous studies were revisited using the novel classification. A total of 20 papers from 11 countries fulfilled our inclusion criteria. The age of patients ranged from prenatal age to geriatric age range. Diagnostic criteria were clearly stated only for two of the above five terms (i.e., congenital LVA and congenital LVD). Cases with mixed diagnostic criteria were frequent.Elliptical geometry of left ventricle was found to have significant impact on effective blood flow mechanics in LV. A simple inclusive classification for congenital LVOs, with therapeutic and prognostic implications, was introduced. The cornerstone of this classification is elliptical LV geometry. Large-type IIc LVO have dismal prognosis, if left untreated. LVO type I and small LVO type IIa have the best

Systematics of the family Plectopylidae in Vietnam with additional information on Chinese taxa (Gastropoda, Pulmonata, Stylommatophora)

PubMed Central

Páll-Gergely, Barna; Hunyadi, András; Ablett, Jonathan; Lương, Hào Văn; Fred Naggs; Asami, Takahiro

2015-01-01

Abstract Vietnamese species from the family Plectopylidae are revised based on the type specimens of all known taxa, more than 600 historical non-type museum lots, and almost 200 newly-collected samples. Altogether more than 7000 specimens were investigated. The revision has revealed that species diversity of the Vietnamese Plectopylidae was previously overestimated. Overall, thirteen species names (anterides Gude, 1909, bavayi Gude, 1901, congesta Gude, 1898, fallax Gude, 1909, gouldingi Gude, 1909, hirsuta Möllendorff, 1901, jovia Mabille, 1887, moellendorffi Gude, 1901, persimilis Gude, 1901, pilsbryana Gude, 1901, soror Gude, 1908, tenuis Gude, 1901, verecunda Gude, 1909) were synonymised with other species. In addition to these, Gudeodiscus hemmeni sp. n. and Gudeodiscus messageri raheemi ssp. n. are described from north-western Vietnam. Sixteen species and two subspecies are recognized from Vietnam. The reproductive anatomy of eight taxa is described. Based on anatomical information, Halongella gen. n. is erected to include Plectopylis schlumbergeri and Plectopylis fruhstorferi. Additionally, the genus Gudeodiscus is subdivided into two subgenera (Gudeodiscus and Veludiscus subgen. n.) on the basis of the morphology of the reproductive anatomy and the radula. The Chinese Gudeodiscus phlyarius werneri Páll-Gergely, 2013 is moved to synonymy of Gudeodiscus phlyarius. A spermatophore was found in the organ situated next to the gametolytic sac in one specimen. This suggests that this organ in the Plectopylidae is a diverticulum. Statistically significant evidence is presented for the presence of calcareous hook-like granules inside the penis being associated with the absence of embryos in the uterus in four genera. This suggests that these probably play a role in mating periods before disappearing when embryos develop. Sicradiscus mansuyi is reported from China for the first time. PMID:25632253

Is endoscopic papillary large balloon dilation safe for treating large CBD stones?

PubMed

Shim, Chan Sup; Kim, Ji Wan; Lee, Tae Yoon; Cheon, Young Koog

2016-01-01

In recent years, endoscopic papillary large balloon dilation (EPLBD) with endoscopic sphincterotomy (EST) has been shown to be an effective technique for the removal of large or difficult common bile duct (CBD) stones, as an alternative to EST. Reviewing the literature published since 2003, it is understood that EPLBD has fewer associated overall complications than EST. Bleeding occurred less frequently with EPLBD than with EST. There was no significant difference in postendoscopic retrograde cholangiopancreatography pancreatitis or perforation. Recent accumulated results of EPLBD with or even without EST suggest that it is a safe and effective procedure for the removal of large or difficult bile duct stones without any additional risk of severe adverse events, when performed under appropriate guidelines. Since use of a larger balloon can tear the sphincter as well as the bile duct, possibly resulting in bleeding and perforation, a balloon size that is equal to or smaller in diameter than the diameter of the native distal bile duct is recommended. The maximum transverse diameter of the stone and the balloon-stone diameter ratio have a tendency to affect the success or failure of complete removal of stones by large balloon dilation to prevent adverse effects such as perforation and bleeding. One should take into account the size of the native bile duct, the size and burden of stones, the presence of stricture of distal bile duct, and the presence of the papilla in or adjacent to a diverticulum. Even though the results of EPLBD indicate that it is a relatively safe procedure in patients with common duct stones with a dilated CBD, the recommended guidelines should be followed strictly for the prevention of major adverse events such as bleeding and perforation.

Quantifying response to intracranial pressure normalization in idiopathic intracranial hypertension via dynamic neuroimaging.

PubMed

Lublinsky, Svetlana; Kesler, Anat; Friedman, Alon; Horev, Anat; Shelef, Ilan

2018-04-01

Idiopathic intracranial hypertension (IIH) is characterized by elevated intracranial pressure without a clear cause. To investigate dynamic imaging findings in IIH and their relation to mechanisms underlying intracranial pressure normalization. Prospective. Eighteen IIH patients and 30 healthy controls. T 1 -weighted, venography, fluid attenuation inversion recovery, and apparent diffusion coefficients were acquired on 1.5T scanner. The dural sinus was measured before and after lumbar puncture (LP). The degree of sinus occlusion was evaluated, based on 95% confidence intervals of controls. We studied a number of neuroimaging biomarkers associated with IIH (sinus occlusion; optic nerve; distribution of cerebrospinal fluid into the subarachnoid space, sulci and lateral ventricles (LVs); Meckel's caves; arachnoid granulation; pituitary and choroid plexus), before and after LP, using a set of specially developed quantification techniques. Relationships among various biomarkers were investigated (Pearson correlation coefficient) and linked to long-term disease outcomes (logistic regression). The t-test and the Wilcoxon rank test were used to compare between controls and before and after LP data. As a result of LP, the following were found to be in good accordance with the opening pressure: relative compression of cerebrospinal fluid (R = -0.857, P < 0.001) and brain volumes (R = -0.576, P = 0.012), LV expansion (R = 0.772, P < 0.001) and venous volume (R = 0.696, P = 0.001), enlargement of the pituitary (R = 0.640, P = 0.023), and shrinkage of subarachnoid space (R = -0.887, P < 0.001). The only parameter that had an impact on long-term prognosis was cross-sectional size of supplemental drainage veins after LP (sensitivity of 92%, specificity of 20%, and area under the curve of 0.845, P < 0.001). We present an approach for quantitative characterization of the intracranial venous system and its implementation as a diagnostic assistance

Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors

PubMed Central

Gesemann, Matthias; Mateos, José M.; Barmettler, Gery; Forbes, Austin; Ziegler, Urs

2017-01-01

Ciliopathies are human disorders caused by dysfunction of primary cilia, ubiquitous organelles involved in transduction of environmental signals such as light sensation in photoreceptors. Concentration of signal detection proteins such as opsins in the ciliary membrane is achieved by RabGTPase-regulated polarized vesicle trafficking and by a selective barrier at the ciliary base, the transition zone (TZ). Dysfunction of the TZ protein CC2D2A causes Joubert/Meckel syndromes in humans and loss of ciliary protein localization in animal models, including opsins in retinal photoreceptors. The link between the TZ and upstream vesicle trafficking has been little explored to date. Moreover, the role of the small GTPase Rab8 in opsin-carrier vesicle (OCV) trafficking has been recently questioned in a mouse model. Using correlative light and electron microscopy and live imaging in zebrafish photoreceptors, we provide the first live characterization of Rab8-mediated trafficking in photoreceptors in vivo. Our results support a possibly redundant role for both Rab8a/b paralogs in OCV trafficking, based on co-localization of Rab8 and opsins in vesicular structures, and joint movement of Rab8-tagged particles with opsin. We further investigate the role of the TZ protein Cc2d2a in Rab8-mediated trafficking using cc2d2a zebrafish mutants and identify a requirement for Cc2d2a in the latest step of OCV trafficking, namely vesicle fusion. Progressive accumulation of opsin-containing vesicles in the apical portion of photoreceptors lacking Cc2d2a is caused by disorganization of the vesicle fusion machinery at the periciliary membrane with mislocalization and loss of the t-SNAREs SNAP25 and Syntaxin3 and of the exocyst component Exoc4. We further observe secondary defects on upstream Rab8-trafficking with cytoplasmic accumulation of Rab8. Taken together, our results support participation of Rab8 in OCV trafficking and identify a novel role for the TZ protein Cc2d2a in fusion of incoming

Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors.

PubMed

Ojeda Naharros, Irene; Gesemann, Matthias; Mateos, José M; Barmettler, Gery; Forbes, Austin; Ziegler, Urs; Neuhauss, Stephan C F; Bachmann-Gagescu, Ruxandra

2017-12-01

Ciliopathies are human disorders caused by dysfunction of primary cilia, ubiquitous organelles involved in transduction of environmental signals such as light sensation in photoreceptors. Concentration of signal detection proteins such as opsins in the ciliary membrane is achieved by RabGTPase-regulated polarized vesicle trafficking and by a selective barrier at the ciliary base, the transition zone (TZ). Dysfunction of the TZ protein CC2D2A causes Joubert/Meckel syndromes in humans and loss of ciliary protein localization in animal models, including opsins in retinal photoreceptors. The link between the TZ and upstream vesicle trafficking has been little explored to date. Moreover, the role of the small GTPase Rab8 in opsin-carrier vesicle (OCV) trafficking has been recently questioned in a mouse model. Using correlative light and electron microscopy and live imaging in zebrafish photoreceptors, we provide the first live characterization of Rab8-mediated trafficking in photoreceptors in vivo. Our results support a possibly redundant role for both Rab8a/b paralogs in OCV trafficking, based on co-localization of Rab8 and opsins in vesicular structures, and joint movement of Rab8-tagged particles with opsin. We further investigate the role of the TZ protein Cc2d2a in Rab8-mediated trafficking using cc2d2a zebrafish mutants and identify a requirement for Cc2d2a in the latest step of OCV trafficking, namely vesicle fusion. Progressive accumulation of opsin-containing vesicles in the apical portion of photoreceptors lacking Cc2d2a is caused by disorganization of the vesicle fusion machinery at the periciliary membrane with mislocalization and loss of the t-SNAREs SNAP25 and Syntaxin3 and of the exocyst component Exoc4. We further observe secondary defects on upstream Rab8-trafficking with cytoplasmic accumulation of Rab8. Taken together, our results support participation of Rab8 in OCV trafficking and identify a novel role for the TZ protein Cc2d2a in fusion of incoming

Contemporary management of aberrant right subclavian arteries.

PubMed

Stone, William M; Ricotta, Joseph J; Fowl, Richard J; Garg, Nitin; Bower, Thomas C; Money, Samuel R

2011-05-01

Aberrant origin of right subclavian arteries represents the most common of the aortic arch anomalies. This variant has few published series to guide management. Our goal was to review treatment options and results for these potentially complex reconstructions. A retrospective review was performed on all patients with a diagnosis of aberrant right subclavian artery at our institution between January 2003 and July 2009. A total of 24 patients, which comprises one of the largest series reported, including 10 males and 14 females (mean age: 46.6 years, range: 7-77), were diagnosed with an aberrant right subclavian artery. Sixteen (66%) were diagnosed incidentally, but eight (33%) had symptoms of either dysphagia, upper extremity ischemia, or both. Computed tomography was most commonly used to establish the diagnosis (19 patients, 79%). Magnetic resonance imaging established the diagnosis in three patients (12%), upper gastrointestinal barium study in one (4%), and standard angiography in one (4%). A Kommerell's diverticulum (KD) was the most common associated anomaly (seven patients, 29%). All seven patients (100%) with a KD required intervention for either symptoms or aneurysmal degeneration. Intervention was performed in 10 patients (42%), including carotid subclavian bypass in five (50%), carotid subclavian transposition in three (30%), and ascending aorta to subclavian bypass in two (20%). Four patients (40%) had additional intervention for management of aneurysmal disease of the aorta or KD, with open aortic replacement in two (20%) and aortic endografting in two (20%). There was one perioperative death (10%) in a patient undergoing aortic arch debranching with placement of an aortic endograft. In all, 18 patients survived without symptoms after a mean follow-up of 38 months. Aberrant right subclavian arteries are most commonly found incidentally with computed tomography. The presence of a KD seemed to correlate with the need for intervention. Patients with no

Cell proliferation in mammalian gastrulation: the ventral node and notochord are relatively quiescent.

PubMed

Bellomo, D; Lander, A; Harragan, I; Brown, N A

1996-04-01

During gastrulation, the node of the mammalian embryo appears to be an organising centre, homologous to Hensen's node in the chick and the dorsal lip of the amphibian blastopore. In addition, the node serves as a precursor population for the head process, notochord and foregut endoderm. We have studied node architecture and cell morphology by electron microscopy, and cell proliferation using bromodeoxyuridine incorporation and mitotic counts. The dorsal (ectodermal) and ventral (endodermal) components of the node are two distinct populations, separated by a basement membrane. The ventral node, contiguous with the head process, is characterised by a relatively low proliferation rate, with only approximately 10% of cells incorporating BrdU over 4 hr, compared to > 95% in surrounding mesodermal and ectodermal tissues. This is the case from the beginning of node formation, at the no-allantoic-bud stage, until the 7 somite stage, and is not compatible with the idea that the ventral node is a stem cell population. The dorsal node is highly proliferative, its rate of division being indistinguishable from the neurectoderm, with which it is contiguous. In the ventral node, two regions can be recognised: cells in the "pit" are columnar and all monociliated; around them lies a "crown" of cells arranged radially in a horseshoe shape and less often ciliated. Node derivatives share common features with the ventral node; the head process and the notochord are relatively quiescent; and some head process cells are also monociliated. Node and head process monocilia are immotile and appear to be associated with non-proliferation. We suggest that the ventral node contains all the properties of the organiser, while the dorsal node is indistinct from the surrounding epiblast. The cranial end of the foregut pouch, the thyroid diverticulum, and the promyocardium of early somite stage embryos are also areas of low cell division. All the described regions of relative quiescence are sites of

Endoscopic full-thickness resection in the colorectum with a novel over-the-scope device: first experience.

PubMed

Schmidt, Arthur; Bauerfeind, Peter; Gubler, Christoph; Damm, Michael; Bauder, Markus; Caca, Karel

2015-08-01

Endoscopic full-thickness resection (EFTR) in the lower gastrointestinal tract may be a valuable therapeutic and diagnostic approach for a variety of indications. Although feasibility of EFTR has been demonstrated, there is a lack of safe and effective endoscopic devices for routine use. The aim of this study was to investigate the efficacy and safety of a novel over-the-scope device for colorectal EFTR. Between July 2012 and July 2014, 25 patients underwent EFTR at two tertiary referral centers. All resections were performed using the full-thickness resection device (FTRD; Ovesco Endoscopy, Tübingen, Germany). Data were collected retrospectively. Indications for EFTR were: recurrent or incompletely resected adenoma with nonlifting sign (n = 11), untreated adenoma and nonlifting sign (n = 2), adenoma involving the appendix (n = 5), flat adenoma in a patient with coagulopathy (n = 1), diagnostic re-resection after incomplete resection of a T1 carcinoma (n = 2), adenoma involving a diverticulum (n = 1), submucosal tumor (n = 2), and diagnostic resection in a patient with suspected Hirschsprung's disease (n = 1). In one patient, the lesion could not be reached because of a sigmoid stenosis. In the other patients, resection of the lesion was macroscopically complete and en bloc in 20/24 patients (83.3 %). The mean diameter of the resection specimen was 24 mm (range 12 - 40 mm). The R0 resection rate was 75.0 % (18/24), and full-thickness resection was histologically confirmed in 87.5 %. No perforations or major bleeding were observed during or after resection. Two patients developed postpolypectomy syndrome, which was managed with antibiotic therapy. Full-thickness resection in the lower gastrointestinal tract with the novel FTRD was feasible and effective. Prospective studies are needed to further evaluate the device and technique. © Georg Thieme Verlag KG Stuttgart · New York.

Laser soldering technique for sutureless urethral surgery.

PubMed

Kirsch, A J; Canning, D A; Zderic, S A; Hensle, T W; Duckett, J W

1997-01-01

Investigators have attempted sutureless surgery to decrease operative time, lessen the inflammatory response, maintain luminal continuity, and increase the ease of performing technically difficult surgery. Only recently has laser-tissue welding (LTW) been used for urologic reconstruction in humans. Herein, we present our technique of laser soldering with the half-watt diode laser and wavelength matched albumin-based solder. Our methodology of LTW relies on bonding between the outer surface of the wound edges and the solder. The 808-nm diode wavelength does not penetrate deep tissue, and thus relies on indocyanine green dye to localize photon absorption. Since 1994, we have performed LTW, as an adjunct to suturing (N = 25) and as a primary means of tissue closure (N = 11). Preoperative diagnoses included hypospadias, urethral stricture, urethral diverticulum, and urethral fistulae. Follow-up ranged between 3 months and 3 years to identify complications of wound healing, stricture, and fistula formation. In the 37 patients undergoing urethral surgery, no strictures or diverticula have resulted. None of the patients have had wound infections or poor wound healing. Overall, five patients have developed fistulas between 2 weeks and 6 months postoperatively. The location of the hypospadiac meatus was scrotal or penoscrotal in four of these patients. Two fistulas developed following sutureless urethroplasty (reoperative) after traumatic catheterization for urinary retention (one case for inadvertent catheter removal). In our initial experience, the overall complication rate using laser soldering was 19% compared to 24% in an historical control group. Half of the complications occurred in a reoperative situation. More recently, the overall fistula rate was 14%; however, for primary cases, the current fistula rate is only 6%. LTW is safe and easy to perform. The application of protein solders (+/-chromophores) have permitted far greater tensile strengths to be achieved than

Management of calyceal diverticular calculi: a comparison of percutaneous nephrolithotomy and flexible ureterorenoscopy.

PubMed

Bas, Okan; Ozyuvali, Ekrem; Aydogmus, Yasin; Sener, Nevzat Can; Dede, Onur; Ozgun, Serhat; Hizli, Fatih; Senocak, Cagri; Bozkurt, Omer Faruk; Basar, Halil; Imamoglu, Abdurrahim

2015-04-01

To compare the outcomes in patients who have been treated with flexible ureterorenoscopy (f-URS) and percutaneous nephrolithotomy (PNL) in managing stone-bearing caliceal diverticula. Between April 2007 and October 2013, we performed a retrospective analysis of 54 evaluable patients (28 women and 26 men) with symptomatic stone-bearing caliceal diverticula, who underwent PNL (n = 29) or F-URS (n = 25) in four referral hospitals in Turkey. The groups were compared with respect to demographics, stone location/size, success rate, stone-free status, symptom-free status, complication rates, and hospital stay. The average stone burden preoperatively was significantly larger in patients who were treated with PNL, with the average size for f-URS being 154 ± 77 mm(2) and that for PNL being 211 ± 97 mm(2) (p = 0.023). Symptom-free rates, success rates, stone-free rates and clinically insignificant residual fragments were similar between the groups (p = 0.880 vs. p = 0.537 vs. p = 0.539, and p = 0.877, respectively). There was no statistical difference between the groups for minor complications (p = 0.521) but no major complication (Clavien III-V) occured in the f-URS group; although there were three major complications (10.3 %) (Clavien III) in the PNL group (p < 0.001). Hospitalization time per patient was 1.04 ± 0.20 days in the f-URS group, while it was 3.86 ± 1.94 days in the PNL group (p < 0.001). Even though this study clearly shows that both techniques have high overall success and symptom-free rates with similar complication rates for stone-bearing calyceal diverticulum, major complication rates may suggest consideration of the invasiveness of PNL. The f-URS procedure is advantageous with respect to a shorter hospital stay and absence of major complications. Therefore, it should be emphasized that the location of the stone and diverticula is an important factor for the selection of the procedure.

Historical perspective on developmental concepts and terminology.

PubMed

Opitz, John M; Neri, Giovanni

2013-11-01

In their ontogeny and phylogeny all living beings are historical entities. The revolution in biology of the 18th and 19th centuries that did away with the scala naturae according to which we humans, the acme of creation, "made a little lower than the angels," also led to the gradual realization that a humble one-celled protist ("protoctist"), such as Entamoeba histolytica of ill repute [Margulis and Chapman, ] has the same 4-billion-year phylogeny as that of Homo sapiens, vivid testimony to common ancestry and the relatedness of all living beings on earth. The group of medical geneticists who assembled at the NIH, Bethesda, MD this January to address terms pertaining to human ontogeny, did so in the long tradition of Sydenham, Linnaeus, Meckel, Geoffroy St-Hilaire père et fils, Wilhelm His and so many others before who had over the previous two centuries wrestled as earnestly as they could with concepts of "classification" and nomenclature of developmental anomalies. The prior massive need for classification per se in medical morphology has diminished over the years in favor of ever more sophisticated understanding of pathogenesis and cause through experimental biology and genetics; however, in the winter of 2013 it was still found prudent to respect terminological precedent on general terms while recognizing recent advances in developmental pathology requiring clarification and definition of special terms. Efforts along similar lines instigated by the German Society of Anatomists at their first meeting in Leipzig in 1887 culminated, after intense years of work by hundreds of experts and consultants under the goad of Wilhelm His, in the Basel Nomina Anatomica [BNA, His (1895)]. His, himself, stated prefatorily that the BNA had no legislative weight, only an evanescent consensus of many to be amended in the future as needed and indicated. Without hubris, no one before or after will do the same. The more substantial the consensus the more permanent the structure

Heller myotomy with esophageal diverticulectomy: an operation in need of improvement.

PubMed

Bowman, Ty A; Sadowitz, Benjamin D; Ross, Sharona B; Boland, Andrew; Luberice, Kenneth; Rosemurgy, Alexander S

2016-08-01

This study was undertaken to evaluate the outcomes after laparoscopic Heller myotomy with anterior fundoplication and diverticulectomy for patients with achalasia and esophageal diverticula. 634 patients undergoing laparoscopic Heller myotomy and anterior fundoplication from 1992 to 2015 are prospectively followed up; patients were stratified for those undergoing concomitant diverticulectomy. Patients graded symptom frequency and severity before and after myotomy, using a Likert scale (0 = never/not bothersome to 10 = always/very bothersome). Median data are presented (mean ± SD). Forty-four patients, age 70 years (65 ± 14.2), underwent laparoscopic Heller myotomy, anterior fundoplication, and diverticulectomy. Operative time was 182 min (183 ± 54.6). Fifty percentage of patients had a postoperative complication: Most notable were leaks at the diverticulectomy site (n = 8) and pulmonary complications (n = 11; 10 effusion, 1 empyema). Length of stay (LOS) was 3 days (5 ± 8.3). All leaks occurred after discharge and resolved without sequelae using transthoracic catheter drainage and parenteral nutrition; two patients received endoscopic esophageal stents. Median follow-up is 39 months. Symptoms amelioration was significant postoperatively, including severity of dysphagia [6 (6 ± 3.9) to 2(4 ± 3.6)]. Seventy-six percentage of patients rated their symptoms at last follow-up as satisfying/very satisfying. Seventy-seven percentage of patients had symptoms once per week or less. Eighty-one percentage would have the operation again knowing what they know now. Laparoscopic Heller myotomy, anterior fundoplication, and diverticulectomy well palliate the symptoms of achalasia with accompanying esophageal diverticulum. The operations are generally longer than those without diverticulectomy and are accompanied by a relatively longer LOS. Complications are relatively frequent and severe (e.g., leaks and pneumonia). In particular, leaks at the

Cardiac troponin T is necessary for normal development in the embryonic chick heart.

PubMed

England, Jennifer; Pang, Kar Lai; Parnall, Matthew; Haig, Maria Isabel; Loughna, Siobhan

2016-09-01

The heart is the first functioning organ to develop during embryogenesis. The formation of the heart is a tightly regulated and complex process, and alterations to its development can result in congenital heart defects. Mutations in sarcomeric proteins, such as alpha myosin heavy chain and cardiac alpha actin, have now been associated with congenital heart defects in humans, often with atrial septal defects. However, cardiac troponin T (cTNT encoded by gene TNNT2) has not. Using gene-specific antisense oligonucleotides, we have investigated the role of cTNT in chick cardiogenesis. TNNT2 is expressed throughout heart development and in the postnatal heart. TNNT2-morpholino treatment resulted in abnormal atrial septal growth and a reduction in the number of trabeculae in the developing primitive ventricular chamber. External analysis revealed the development of diverticula from the ventricular myocardial wall which showed no evidence of fibrosis and still retained a myocardial phenotype. Sarcomeric assembly appeared normal in these treated hearts. In humans, congenital ventricular diverticulum is a rare condition, which has not yet been genetically associated. However, abnormal haemodynamics is known to cause structural defects in the heart. Further, structural defects, including atrial septal defects and congenital diverticula, have previously been associated with conduction anomalies. Therefore, to provide mechanistic insights into the effect that cTNT knockdown has on the developing heart, quantitative PCR was performed to determine the expression of the shear stress responsive gene NOS3 and the conduction gene TBX3. Both genes were differentially expressed compared to controls. Therefore, a reduction in cTNT in the developing heart results in abnormal atrial septal formation and aberrant ventricular morphogenesis. We hypothesize that alterations to the haemodynamics, indicated by differential NOS3 expression, causes these abnormalities in growth in cTNT knockdown

Dysphagia among adult patients who underwent surgery for esophageal atresia at birth.

PubMed

Huynh Trudeau, Valérie; Maynard, Stéphanie; Terzic, Tatjana; Soucy, Geneviève; Bouin, Mickeal

2015-03-01

Clinical experiences of adults who underwent surgery for esophageal atresia at birth is limited. There is some evidence that suggests considerable long-term morbidity, partly because of dysphagia, which has been reported in up to 85% of adult patients who undergo surgery for esophageal atresia. The authors hypothesized that dysphagia in this population is caused by dysmotility and⁄or anatomical anomalies. To determine the motor and anatomical causes of dysphagia. A total of 41 adults, followed at the Esophageal Atresia Clinic at Hôpital Saint-Luc (Montreal, Quebec), were approached to particpate in the present prospective study. Evaluation was completed using upper endoscopy, manometry and barium swallow for the participants who consented. The medical charts of respondents were systematically reviewed from the neonatal period to 18 years of age to assess medical and surgical history. All 41 patients followed at the clinic consented and were included in the study. Dysphagia was present in 73% of patients. Esophagogastroduodenoscopy was performed in 32 patients: hiatal hernia was present in 62% (n=20); esophageal diverticulum in 13% (n=4); macroscopic Barrett esophagus in 31% (n=10); and esophagitis in 19% (n=6). Histological esophagitis was present in 20% and intestinal metaplasia in 10%. There were no cases of dysplagia or adenocarcinoma. Esophageal manometry was performed on 56% of the patients (n=23). Manometry revealed hypomotility in 100% of patients and included an insufficient number of peristaltic waves in 96%, nonpropagating peristalsis in 78% and low-wave amplitude in 95%. Complete aperistalsis was present in 78%. The lower esophageal sphincter was abnormal in 12 (52%) patients, with incomplete relaxation the most common anomaly. Of the 41 patients, 29 (71%) consented to a barium swallow, which was abnormal in 13 (45%). The anomalies found were short esophageal dilation in 28%, delay in esophageal emptying in 14%, diverticula in 14% and stenosis in 7

Endoscopic balloon catheter dilatation via retrograde or static technique is safe and effective for cricopharyngeal dysfunction

PubMed Central

Chandrasekhara, Vinay; Koh, Joyce; Lattimer, Lakshmi; Dunbar, Kerry B; Ravich, William J; Clarke, John O

2017-01-01

, oropharyngeal dysfunction, Zenker’s diverticulum, age or gender (P > 0.05). The only complication noted was uvular edema and a shallow ulcer after static dilatation in one patient, which resolved spontaneously and did not require hospital admission. CONCLUSION UES dilatation with a through-the-scope balloon by either static or retrograde technique is safe and effective for the treatment of dysphagia due to CP dysfunction. To our knowledge, this is the first study evaluating retrograde balloon dilatation of the UES. PMID:28465785

Is glans penis width a risk factor for complications after hypospadias repair?

PubMed

Faasse, M A; Johnson, E K; Bowen, D K; Lindgren, B W; Maizels, M; Marcus, C R; Jovanovic, B D; Yerkes, E B

2016-08-01

Recent studies have suggested that a smaller glans penis size may be associated with a higher likelihood of complications after hypospadias repair. Accurate identification of risk factors other than the well-understood variable of meatal location would allow development of better prognostic models and individualized risk stratification. To test the hypothesis that a smaller width of the glans penis predicts adverse outcomes after hypospadias surgery. Prospectively recorded clinical data were reviewed from a single-institution registry of primary hypospadias repairs performed between 2011 and 2014. Follow-up records were examined for occurrence of complications. Urethroplasty complications were defined to include meatal stenosis, dehiscence, urethrocutaneous fistula, urethral stricture, and/or urethral diverticulum. The subset of meatal stenosis and dehiscence were regarded as glanular complications. Regression analyses were performed to determine association between glans width and occurrence of complications. Because pre-operative androgen stimulation is known to increase glans penis size, separate subgroup analyses were included of patients with and without pre-operative use of testosterone cream. A total of 159 patients met criteria for inclusion in the study cohort: 140 patients underwent a single-stage repair, while 19 patients had a two-stage repair. The median glans penis width was 15 mm (range 10-22). Eighty-four patients (53%) received testosterone cream pre-operatively and had a significantly wider glans penis than the 75 patients who did not (median 15.5 vs 14 mm; P < 0.001). Median clinical follow-up was 7 months (IQR 1-12), with a minimum time elapsed since surgery of 10 months at the time of chart review. Twenty-four patients (15%) had one or more urethroplasty complications, including 11 (7%) with glanular complications. Overall, there was no statistically significant association between glans width and urethroplasty complications (P = 0

Nephrogenic adenoma of the urinary tract: A 6-year single center experience.

PubMed

Turcan, Didem; Acikalin, Mustafa Fuat; Yilmaz, Evrim; Canaz, Funda; Arik, Deniz

2017-07-01

Nephrogenic adenoma is an uncommon benign lesion that occurs at several sites in urinary tract, from the renal pelvis to urethra, with the highest frequency in urinary bladder. Nephrogenic adenoma displays a broad spectrum of architectural and cytological features. Hence, recognition of its characteristic histopathological features is needed to distinguish this lesion from its mimickers. A retrospective series of 21 cases of nephrogenic adenoma in 18 patients, which were diagnosed in our department between 2010 and 2016, were analyzed. All histological slides were reviewed by two pathologists and the diagnosis of each case was confirmed. Immunohistochemistry was performed for PAX-8 in all cases. CK7, PAX-2, PSA, p53, p63, GATA-3 and α-methylacyl-CoA racemase (AMACR) were applied in problematic cases. The most common location of the lesion was urinary bladder (14 patients) followed by renal pelvis (2 patients), ureter (1 patient) and urethra (1 patient). A history of urothelial carcinoma and repeated TUR procedures were observed in 12 patients. There were 2 pediatric patients aged 3 years. Both of them had undergone previous urosurgery because of megaureter in one and bladder exstrophy in the other. Other clinical antecedents included bladder diverticulum (1 patient), cystitis (1 patient) and nephrolithiasis (1 patient). Recurrence of lesion was seen in two patients (once in one case and twice in the other one). The median time to disease recurrence in these patients was 11 months (range, 2-20 months). Histologically, the lesions exhibited various morphological findings, with mixed (15 cases, 71.4%), pure tubular (3 cases, 14.3%), pure papillary (2 cases, 9.5%) and pure flat (1 case, 4.8%) growth patterns. Of the 15 cases with mixed patterns, 8 cases were tubulocystic and flat, 3 cases were tubular and flat, 2 cases were tubular, papillary and flat, 1 case was tubulocystic, papillary and flat, and 1 case was tubular and papillary. Flat pattern was observed in 15

Dysphagia among adult patients who underwent surgery for esophageal atresia at birth

PubMed Central

Huynh-Trudeau, Valérie; Maynard, Stéphanie; Terzic, Tatjana; Soucy, Geneviève; Bouin, Mickael

2015-01-01

BACKGROUND: Clinical experiences of adults who underwent surgery for esophageal atresia at birth is limited. There is some evidence that suggests considerable long-term morbidity, partly because of dysphagia, which has been reported in up to 85% of adult patients who undergo surgery for esophageal atresia. The authors hypothesized that dysphagia in this population is caused by dysmotility and/or anatomical anomalies. OBJECTIVE: To determine the motor and anatomical causes of dysphagia. METHODS: A total of 41 adults, followed at the Esophageal Atresia Clinic at Hôpital Saint-Luc (Montreal, Quebec), were approached to particpate in the present prospective study. Evaluation was completed using upper endoscopy, manometry and barium swallow for the participants who consented. The medical charts of respondents were systematically reviewed from the neonatal period to 18 years of age to assess medical and surgical history. RESULTS: All 41 patients followed at the clinic consented and were included in the study. Dysphagia was present in 73% of patients. Esophagogastroduodenoscopy was performed in 32 patients: hiatal hernia was present in 62% (n=20); esophageal diverticulum in 13% (n=4); macroscopic Barrett esophagus in 31% (n=10); and esophagitis in 19% (n=6). Histological esophagitis was present in 20% and intestinal metaplasia in 10%. There were no cases of dysplagia or adenocarcinoma. Esophageal manometry was performed on 56% of the patients (n=23). Manometry revealed hypomotility in 100% of patients and included an insufficient number of peristaltic waves in 96%, non-propagating peristalsis in 78% and low-wave amplitude in 95%. Complete aperistalsis was present in 78%. The lower esophageal sphincter was abnormal in 12 (52%) patients, with incomplete relaxation the most common anomaly. Of the 41 patients, 29 (71%) consented to a barium swallow, which was abnormal in 13 (45%). The anomalies found were short esophageal dilation in 28%, delay in esophageal emptying in 14

Foramen ovale puncture, lesioning accuracy, and avoiding complications: microsurgical anatomy study with clinical implications.

PubMed

Peris-Celda, Maria; Graziano, Francesca; Russo, Vittorio; Mericle, Robert A; Ulm, Arthur J

2013-11-01

Foramen ovale (FO) puncture allows for trigeminal neuralgia treatment, FO electrode placement, and selected biopsy studies. The goals of this study were to demonstrate the anatomical basis of complications related to FO puncture, and provide anatomical landmarks for improvement of safety, selective lesioning of the trigeminal nerve (TN), and optimal placement of electrodes. Both sides of 50 dry skulls were studied to obtain the distances from the FO to relevant cranial base references. A total of 36 sides from 18 formalin-fixed specimens were dissected for Meckel cave and TN measurements. The best radiographic projection for FO visualization was assessed in 40 skulls, and the optimal trajectory angles, insertion depths, and topographies of the lesions were evaluated in 17 specimens. In addition, the differences in postoperative pain relief after the radiofrequency procedure among different branches of the TN were statistically assessed in 49 patients to determine if there was any TN branch less efficiently targeted. Most severe complications during FO puncture are related to incorrect needle placement intracranially or extracranially. The needle should be inserted 25 mm lateral to the oral commissure, forming an approximately 45° angle with the hard palate in the lateral radiographic view, directed 20° medially in the anteroposterior view. Once the needle reaches the FO, it can be advanced by 20 mm, on average, up to the petrous ridge. If the needle/radiofrequency electrode tip remains more than 18 mm away from the midline, injury to the cavernous carotid artery is minimized. Anatomically there is less potential for complications when the needle/radiofrequency electrode is advanced no more than 2 mm away from the clival line in the lateral view, when the needle pierces the medial part of the FO toward the medial part of the trigeminal impression in the petrous ridge, and no more than 4 mm in the lateral part. The 40°/45° inferior transfacial-20° oblique

Two-stage graft urethroplasty for proximal and complicated hypospadias in children: A retrospective study.

PubMed

Faure, Alice; Bouty, Aurore; Nyo, Yoke Lin; O'Brien, Mike; Heloury, Yves

2016-10-01

Although two-stage graft urethroplasty is widely used, the literature regarding the complication rates and functional characteristics of reconstructed neourethra is relatively modest. The aim was to analyze the complication rates and uroflow data of boys who have previously undergone a two-stage graft urethroplasty procedure for proximal and complicated hypospadias. We retrospectively reviewed the clinical outcomes of 52 boys with proximal (n = 44) and complicated (n = 8) hypospadias who underwent two-stage graft urethroplasty repair (median age of 15 months and 3 years respectively) between 2004 and 2015. Fifteen toilet-trained boys without fistulas underwent uroflowmetry. The uroflow data were plotted on age-volume-dependent normograms with normal controls. The median follow-up was 34 months (8 months-8 years). Complications were identified in three patients (6%) after the first stage (i.e. contracture of the graft) and in 20 patients (38.4%) after the second stage, including meatal stenosis (n = 8, 15.3%), urethral stricture (n = 4, 7.6%), urethrocutaneous fistula (n = 8, 15.3%), glandular dehiscence (n = 1, 1.9%), and diverticulum (n = 1, 1.9%). The patients with failed hypospadias experienced fewer complications than those who underwent the two-stage procedure for primary repair (25% and 45%, respectively). The reoperation rate was 36.8%. Eleven of the 15 toilet-trained boys were asymptomatic but exhibited flow rates below the normal range (median Q max  = 7 mL/s, range 3.5-16.7). Only one of the boys with a low flow rate was confirmed to have urethral stenosis under general anesthesia. In our study, primary hypospadias repair requiring urethral plate transection elicited worse outcomes than those observed in the prior failed hypospadias cases. However, because of our study's retrospective design, we were unable to accurately assess the initial position of the meatus in the redo hypospadias cases. Our data also demonstrated that the majority

A novel technique for repair of mid-penile hypospadias using a preputial skin flap: results of 110 patients.

PubMed

Elmoghazy, Hazem; Hussein, Mohamed M; Mohamed, Elnisr; Badawy, Abdelbasset; Alsagheer, Gamal; Abd Elhamed, Ahmed Mamdouh

2016-12-01

Several techniques have been used to repair mid-penile hypospadias; however, high failure rates and major complications have been reported. In this study, we describe a novel technique using a well-vascularized flap of the inner and outer preputial skin. A total of 110 male children with hypospadias underwent repair by our technique between 2008 and 2015. The inclusion criteria were children with mid-penile or slightly more proximal hypospadias, with or without ventral chordae, and an intact prepuce of the cobra eyes variety. Recurrent cases, patients with other preputial types, and circumcised children were excluded from this study. The prepared flap was sutured in its natural longitudinal orientation to the created urethral plate strip to form a neo-urethra over a urethral catheter. Outcome measures included surgical success without the formation of a urethra-cutaneous fistula, no ischaemia of the flaps, glans dehiscence or infection and functional outcome and cosmetic appearance. The median follow-up duration was 3.3 years. There were 63 cases of mid-penile hypospadias (57.3 %), and in 47 cases (42.7 %), the meatus was slightly more proximal. The age of the patients ranged from 1.1 to 8.0 years, with a mean age of 4.6 ± 1.2 years. Surgery was successful in 106 (96.4 %) cases. Minor complications occurred in 11 patients (10 %) and included oedema of glans in ten patients and bluish discoloration on the ventral aspect of the glans close to the suture line in three patients. All patients improved within 2 weeks after surgery. Long-term follow-up revealed a properly functioning urethra with a forward, projectile, single, compact, and rifled urinary stream of adequate calibre and cosmetically acceptable repair. No cases of meatal retraction, meatal stenosis, urethral stricture, or acquired urethral diverticulum occurred. Our technique is different from the split prepuce in situ technique. We create a narrow strip of the urethral plate that facilitates

Micturating cystourethrogram as a tool for investigating UTI in children - An institutional audit.

PubMed

Hua, L; Linke, R J; Boucaut, H A P; Khurana, S

2016-10-01

Micturating cystourethrograms (MCUG) are the gold standard for evaluating vesicoureteric reflux (VUR). There is a growing consensus for increasing the threshold for performing MCUGs following urinary tract infections (UTI) in children. There are several varying guidelines. It is important to detect high-grade reflux in the setting of an UTI because of potential long-term complications. This audit aimed to retrospectively: (1) identify the conformance rate of local guidelines at the Women's and Children's Hospital (WCH); (2) assess predictors for an abnormal MCUG; and (3) compare local guidelines against the Royal Children's Hospital, Melbourne (RCH), National Institute for Healthcare and Excellence (NICE), and American Academy of Pediatrics (AAP) guidelines for selectively detecting high-grade reflux. The number of MCUGs performed from 2008 to 2012 at the WCH radiology department was collected. Patients undergoing MCUG during the 2012 calendar year were identified. Only children having an initial MCUG as part of an UTI investigation with prerequisite imaging as per guidelines were included. Each child's age, sex, referral source, reason, renal ultrasound (RUS) prior to the MCUG, MCUG result and VUR grade were recorded. The WCH guidelines were applied to determine conformance, to evaluate predictors for an abnormal MCUG, and compared against other retrospectively applied guidelines (RCH, NICE, AAP). There was complete data for 168 children who underwent MCUG as part of an UTI investigation (median age 0.79 years, range 0.12-8.74, male:female 67:101). There were 67/168 abnormal MCUGs (62 children with VUR, five bladder diverticulum), and 97 refluxing renal units (43 high-grade VUR units). No posterior urethral valves (PUV) were identified as part of the UTI investigation. A total of 143/168 patients had prior RUS (normal:abnormal 67:76). The WCH guidelines had 82% conformance. There was no statistically significant association between an abnormal MCUG and age, sex

The anatomy and histology of the reproductive tract of the male Babirusa (Babyrousa celebensis).

PubMed

Ziehmer, B; Signorella, A; Kneepkens, A F L M; Hunt, C; Ogle, S; Agungpriyono, S; Knorr, C; Macdonald, A A

2013-04-15

longitudinal axis toward its free end. The small prepucial diverticulum situated dorsocranial to the penis tip in adult and prepubertal Babyrousa, in adults measured 22.0 ± 1 mm in length and 17.5 ± 2.6 mm (N = 3) in width. Copyright © 2013 Elsevier Inc. All rights reserved.

Comparative cranial ontogeny of Tapirus (Mammalia: Perissodactyla: Tapiridae).

PubMed

Moyano, S Rocio; Giannini, Norberto P

2017-11-01

dentition, and correlated changes in diastemata, mandibular body, and sagittal and nuchal crests. In the nasal region, ontogenetic remodeling affected the space for the meatal diverticulum and the surfaces for the origin of the proboscis musculature. Overall, ontogenetic trajectories exhibited more negative allometric components in T. indicus than in T. terrestris, and they shared 47.83% of allometric trends. Tapirus indicus differed most significantly from T. terrestris in the allometry of postcanine toothrows, diastemata and mandibular body. Thus, some allometric trends seem to be highly conserved among the species studied, and the changes observed showed a strong functional and likely adaptive basis in this lineage of ungulates. © 2017 Anatomical Society.

Vaginal Repair of Cesarean Section Scar Diverticula that Resulted in Improved Postoperative Menstruation.

PubMed

Zhou, Jieru; Yao, Min; Wang, Husheng; Tan, Weilin; Chen, Pin; Wang, Xipeng

2016-01-01

Owing to the increase in cesarean sections (C-sections) worldwide, long-term complications such as postmenstrual spotting, chronic pelvic pain, and C-section scar ectopic pregnancies have created a new medical era of gynecologic disease. A new type of vaginal repair is evaluated to repair C-section diverticulum (CSD) and rebuild the muscular layer to improve symptoms of abnormal uterine bleeding and decrease the risk of uterine rupture. Retrospective cohort study (Canadian Task Force classification II-2). University hospital. A total of 121 patients with CSD diagnoses by transvaginal ultrasound (TVU) presented with postmenstrual spotting between June 2012 and March 2015. All patients had undergone at least 1 C-section delivery and had no history of postmenstrual spotting before undergoing C-section. Vaginal excision and suture of CSD. The mean duration of menstruation was 14.87 ± 3.46 days preoperatively and decreased to 8.22 ± 2.73 days at 1 month after surgery, 8.89 ± 2.67 days at 3 months after surgery, and 9.02 ± 2.47 days at 6 months after surgery (p < .01). The length, width, depth, and thickness of the remaining muscular layer (TRM) at 1 month, 3 months, and 6 months assessed by TVU also improved significantly after surgery (p < .05). However, postoperative menstruation and imaging data did not differ markedly between 3 months and 6 months, suggesting that follow-up at 3 months represents an adequate endpoint for evaluating the effectiveness of surgery. At 6 months, 80.3% of patients (94 of 117) reached ≤10 days of menstruation. Further study revealed that a TRM at 6 months of ≥8.5 mm measured by TVU (relative risk [RR], 6.418; 95% confidence interval [CI], 1.478-28.443) and an interval between CS and vaginal repair of ≤2.5 years (RR, 12.0; 95% CI, 1.541- 93.454) were good prognostic factors associated with surgery. Vaginal repair of CSD improved the symptoms of postmenstrual spotting and anatomically corrected the

Glans size is an independent risk factor for urethroplasty complications after hypospadias repair.

PubMed

Bush, Nicol C; Villanueva, Carlos; Snodgrass, Warren

2015-12-01

We hypothesized small glans size could increase urethroplasty complications (UC) following hypospadias repair. To test this, we measured glans width at its widest point in consecutive patients with hypospadias, and following a protocol for surgical decision-making, we then assessed post-operative UC using pre-determined definitions. We now report analysis of glans size as a potential additional independent risk factor for UC after hypospadias repair. Consecutive prepubertal patients undergoing hypospadias repair (2009-2013) had maximum glans width measured using calipers (Fig. 1). There were no differences in surgical technique for urethroplasty or glansplasty in this series based on the measured size of the glans. Multivariate logistic regression analyzed UC (fistula, glans dehiscence, diverticulum, stricture and/or meatal stenosis) based on glans size while adjusting for patient age, meatus (distal or midshaft/proximal), type of repair (TIP, inlay, 2-stage), surgeon, and primary or reoperative repair. Glans size was analyzed as both a continuous and dichotomous variable, with small glans defined as <14 mm. Mean glans size was 15 mm (10-27 mm) in 490 boys (mean 1.5 years) undergoing 432 primary repairs (380d/19mid/33prox), and 58 reoperations (28d/7mid/23prox). Increasing age between 3 months and 10 years did not correlate with increasing glans size (R = 0.01, p = 0.18). 17% had small glans <14 mm. UC occurred in 61 (13%) primary TIP, 2-stage, and reoperative repairs, including 20/81 (25%) patients with small glans <14 mm, versus 41/409 (10%) in patients with glans width ≥14 mm (p = 0.0003). On multivariate analysis, small glans size (OR 3.5, 95% CI 1.8-6.8), reoperations (OR 3.0, 95% CI 1.4-6.5) and mid/proximal meatus (OR 3.1, 95% CI 1.6-6.2) were independent risk factors for UC. Surgeon, repair type, and patient age did not impact risk for UC. Analysis with glans size as a continuous variable demonstrated each 1 mm increase in size decreased odds

Outcomes of complex robot-assisted extravesical ureteral reimplantation in the pediatric population.

PubMed

Arlen, Angela M; Broderick, Kristin M; Travers, Curtis; Smith, Edwin A; Elmore, James M; Kirsch, Andrew J

2016-06-01

While open ureteral reimplantation remains the gold standard for surgical treatment of vesicoureteral reflux (VUR), minimally invasive approaches offer potential benefits. This study evaluated the outcomes of children undergoing complex robot-assisted laparoscopic ureteral reimplantation (RALUR) for failed previous anti-reflux surgery, complex anatomy, or ureterovesical junction obstruction (UVJO), and compared them with patients undergoing open extravesical repair. Children undergoing complex RALUR or open extravesical ureteral reimplantation (OUR) were identified. Reimplantation was classified as complex if ureters: 1) had previous anti-reflux surgery, 2) required tapering and/or dismembering, or 3) had associated duplication or diverticulum. Seventeen children underwent complex RALUR during a 24-month period, compared with 41 OUR. The mean follow-up was 16.6 ± 6.5 months. The RALUR children were significantly older (9.3 ± 3.7 years) than the OUR patients (3.1 ± 2.7 years; P < 0.001). All RALUR patients were discharged on postoperative day one, while 24.4% of children in the open group required longer hospitalization (mean 1.3 ± 0.7 days; P = 0.03). Adjusting for age, there was no significant difference in inpatient analgesic usage between the two cohorts. Three OUR patients (7.3%) developed postoperative febrile urinary tract infection compared with a single child (5.9%) undergoing RALUR (P = 1.00). There was no significant difference in complication rate between the two groups (12.2% OUR versus 11.8% RALUR; P = 1.00). A postoperative cystogram was performed in the majority of RALUR patients, with no persistent VUR detected, and one child (6.7%) was diagnosed with contralateral reflux. Reported VUR resolution rates following robot-assisted ureteral reimplantation are varied. In the present series, children undergoing RALUR following failed previous anti-reflux surgery, with complex anatomy, or UVJO experienced a shorter length of stay but had

One-Stage Gender-Confirmation Surgery as a Viable Surgical Procedure for Female-to-Male Transsexuals.

PubMed

Stojanovic, Borko; Bizic, Marta; Bencic, Marko; Kojovic, Vladimir; Majstorovic, Marko; Jeftovic, Milos; Stanojevic, Dusan; Djordjevic, Miroslav L

2017-05-01

Female-to-male gender-confirmation surgery (GCS) includes removal of breasts and female genitalia and complete genital and urethral reconstruction. With a multidisciplinary approach, these procedures can be performed in one stage, avoiding multistage operations. To present our results of one-stage sex-reassignment surgery in female-to-male transsexuals and to emphasize the advantages of single-stage over multistage surgery. During a period of 9 years (2007-2016), 473 patients (mean age = 31.5 years) underwent metoidioplasty. Of these, 137 (29%) underwent simultaneous hysterectomy, and 79 (16.7%) underwent one-stage GCS consisting of chest masculinization, total transvaginal hysterectomy with bilateral adnexectomy, vaginectomy, metoidioplasty, urethral lengthening, scrotoplasty, and implantation of bilateral testicular prostheses. All surgeries were performed simultaneously by teams of experienced gynecologic and gender surgeons. Primary outcome measurements were surgical time, length of hospital stay, and complication and reoperation rates compared with other published data and in relation to the number of stages needed to complete GCS. Mean follow-up was 44 months (range = 10-92). Mean surgery time was 270 minutes (range = 215-325). Postoperative hospital stay was 3 to 6 days (mean = 4). Complications occurred in 20 patients (25.3%). Six patients (7.6%) had complications related to mastectomy, and one patient underwent revision surgery because of a breast hematoma. Two patients underwent conversion of transvaginal hysterectomy to an abdominal approach, and subcutaneous perineal cyst, as a consequence of colpocleisis, occurred in nine patients. There were eight complications (10%) from urethroplasty, including four fistulas, three strictures, and one diverticulum. Testicular implant rejection occurred in two patients and testicular implant displacement occurred in one patient. Female-to-male transsexuals can undergo complete GCS, including mastectomy

Results of distal hypospadias repair after pediatric urology fellowship training: A comparison of junior surgeons with their mentor.

PubMed

Bush, N C; Barber, T D; Dajusta, D; Prieto, J C; Ziada, A; Snodgrass, W

2016-06-01

Teaching and learning hypospadias repair is a major component of pediatric urology fellowship training. Educators must transfer skills to fellows, without increasing patient complications. Nevertheless, few studies report results of surgeons during their first years of independent practice. To review outcomes of distal hypospadias repairs performed during the same 2-year period by consecutive, recently matriculated, surgeons in independent practice, and to compare them to results by their mentor (with >20 years of experience). Exposure to hypospadias surgery during fellowship was determined from case logs of five consecutive fellows completing training from 2007-2011. TIP was the only technique used to repair distal hypospadias. No fellow operated independently or performed complete repairs under supervision. Instead, the first 3 months were spent assisting their mentor, observing surgical methodology and decision-making. Then, each performed selected portions under direct supervision, including: degloving, penile straightening, developing glans wings, incising and tubularizing the urethral plate, creating a barrier layer, sewing the glansplasty, and skin closure. Overall fellow participation in each case was <50%. In 2011-2012, urethroplasty complications (fistula, glans dehiscence, meatal stenosis, urethral stricture, diverticulum) were recorded for consecutive patients undergoing primary distal repair by these recent graduates in their independent practices. The fellow graduating in 2011 provided 1 year of data. All patients undergoing repair during the study period were included in the analysis, except those lost to follow-up after catheter removal. Composite urethroplasty complications were compared between junior surgeons, and between junior surgeons and their mentor, with Fisher's exact contingency test. Training logs indicated fellow participation ranged from 76-134 hypospadias repairs, including distal, proximal and reoperative surgeries. Post

[The current view of surgical treatment of diverticular disease].

PubMed

Zonca, P; Jacobi, C A; Meyer, G P

2009-10-01

complications, trombosis/embolia, postoperative qualitative conscious disorder, renal insufficiency, and others) occurred by elective group in 19.6% and by acute operated group in 50%. Overall extraabdominal postoperative complications occurred in all involved patients in 26.90%. The mortality was 0%. The conversion rate in elective group was 3.8% (3 pts.). An anastomosis leak occurred once (1%) by elective operated patient. An acute reoperation with resection according to Hartmann was performed. A small bowel loop perforation by coincidental adhesiolysis occurred once. A small bowel defect was identified and sutured by early laparoscopic reoperation. The conversion rate in acute group was 23.1% (6 pts.). The colonoscopy was necessary on 3rd day by 1 patient after left hemicolectomy for splenic flexure bleeding. This examination revealed bleeding from diverticulum in hepatic flexure. An endoscopic treatment was performed. An abscess in small pelvis occurred by this patient (12th postoperative day) and open drainage was performed. There was no anastomosis leak in group with acutely operated patients. The usage of standard classification is suitable for operation's indication for diverticular disease and its complications. It helps to determine the type and operation's strategy. The acute complicated diveticulitis has high morbidity and mortality. The early indication of selected patients with diverticular disease for elective colon sigmoideum resection protects against possible complication in the case of next attack of diverticulitis. It concerns the patients with recidivated uncomplicated and complicated forms of disease as well. The primary conservative treatment with percutaneous CT navigated drainage allows a postponed elective surgery. The primary resection with suture is better than the two stage surgery. The primary laparoscopic resection is safe procedure in almost all the cases. The primary suture can be safely performed in all elective cases for uncomplicated

[Ultrasonography in acute pelvic pain].

PubMed

Kupesić, Sanja; Aksamija, Alenka; Vucić, Niksa; Tripalo, Ana; Kurjak, Asim

2002-01-01

Acute pelvic pain may be the manifestation of various gynecologic and non-gynecologic disorders from less alarming rupture of the follicular cyst to life threatening conditions such as rupture of ectopic pregnancy or perforation of inflamed appendix. In order to construct an algorithm for differential diagnosis we divide acute pelvic pain into gynecologic and non-gynecologic etiology, which is than subdivided into gastrointestinal and urinary causes. Appendicitis is the most common surgical emergency and should always be considered in differential diagnosis if appendix has not been removed. Apart of clinical examination and laboratory tests, an ultrasound examination is sensitive up to 90% and specific up to 95% if graded compression technique is used. Still it is user-depended and requires considerable experience in order to perform it reliably. Meckel's diverticulitis, acute terminal ileitis, mesenteric lymphadenitis and functional bowel disease are conditions that should be differentiated from other causes of low abdominal pain by clinical presentation, laboratory and imaging tests. Dilatation of renal pelvis and ureter are typical signs of obstructive uropathy and may be efficiently detected by ultrasound. Additional thinning of renal parenchyma suggests long-term obstructive uropathy. Ruptured ectopic pregnancy, salpingitis and hemorrhagic ovarian cysts are three most commonly diagnosed gynecologic conditions presenting as an acute abdomen. Degenerating leiomyomas and adnexal torsion occur less frequently. For better systematization, gynecologic causes of acute pelvic pain could be divided into conditions with negative pregnancy test and conditions with positive pregnancy test. Pelvic inflammatory disease may be ultrasonically presented with numerous signs such as thickening of the tubal wall, incomplete septa within the dilated tube, demonstration of hyperechoic mural nodules, free fluid in the "cul-de-sac" etc. Color Doppler ultrasound contributes to more