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Sample records for congenital bronchial atresia

  1. Imaging findings of bronchial atresia in fetuses, neonates and infants.

    PubMed

    Alamo, Leonor; Vial, Yvan; Gengler, Carole; Meuli, Reto

    2016-03-01

    Congenital lung malformations are increasingly detected before birth. However, bronchial atresia is rarely identified in utero and not always recognized in neonates. There are two types of atresia: 1) proximal, located at the level of the mainstem or the proximal lobar bronchi, which is extremely rare and usually lethal during pregnancy, causing a tremendous volume increase of the distal involved lung with secondary hypoplasia of the normal lung, and 2) peripheral, located at the segmental/subsegmental bronchial level, which may present as an isolated lesion or as part of a complex congenital malformation. Prenatal findings are mostly nonspecific. Postnatal exams show overinflated lung areas and focal bronchial dilations. The typical fluid-filled bronchoceles are not always observed in neonates but develop progressively in the first months of life. This pictorial essay describes the spectrum of imaging findings of bronchial atresia in fetuses, neonates and infants. PMID:26646151

  2. Recurrent pneumothorax associated with bronchial atresia: report of a case.

    PubMed

    Tanaka, Kazuhisa; Suzuki, Hidemi; Nakajima, Takahiro; Tagawa, Tetsuzo; Iwata, Takekazu; Mizobuchi, Teruaki; Yoshida, Shigetoshi; Yoshino, Ichiro

    2015-10-01

    We herein report a case of recurrent pneumothorax associated with congenital bronchial atresia. A 26-year-old male presented with chest pain. Chest roentgenograms showed left pneumothorax, a left apical bulla and an area of hyperlucency in the left upper lung field, and chest computed tomography revealed a discontinuation of the left superior bronchus. Additionally, both ventilation and perfusion scintigraphy showed a defect in the left superior segment. A thoracoscopy-assisted left superior segmentectomy was performed, and a pathological examination indicated left superior segmental bronchial atresia, which might have predisposed the peripheral lung to emphysematous conditions. No relapse was observed 6 months after the operation. Although this entity is rare, congenital bronchial atresia should be considered in the differential diagnosis when a patient has suffered from a recurrent spontaneous pneumothorax.

  3. A solitary large radioiodine accumulative lung lesion in high-dose 131i therapeutic scan: bronchial atresia with mucocele.

    PubMed

    Lee, Won Hyoung; Park, Jung Mi; Kwak, Jeong Ja

    2015-02-01

    We reported a large radioiodine accumulative lung lesion on I therapeutic whole-body scan performed in a 50-year-old woman for thyroid cancer ablation therapy. Previously, her chest radiography and contrast-enhanced chest CT images showed bronchial atresia in the left upper lobar bronchus and mucus-filled dilated distal bronchus. Bronchial mucocele was confirmed by CT-guided percutaneous transthoracic needle aspiration. Bronchial atresia is a rare congenital abnormality associated with the mucocele.

  4. Congenital nasolacrimal atresia in 4 alpacas

    PubMed Central

    Sandmeyer, Lynne S.; Bauer, Bianca S.; Breaux, Carrie B.; Grahn, Bruce H.

    2011-01-01

    Four alpacas, 2 wk to 1 y of age, were diagnosed with congenital atresia of the nasal puncta of the nasolacrimal duct. Dacryocystorhinography confirmed and localized the atresia. All animals were treated successfully by surgical creation of nasal puncta and patency was ensured by placement of a surgical stent for several weeks. PMID:21629429

  5. Respiratory distress of the newborn: congenital laryngeal atresia.

    PubMed

    Ambrosio, Art; Magit, Anthony

    2012-11-01

    Congenital laryngeal atresia is a rare cause of respiratory distress of the newborn. The defect may be isolated or occur in association with other congenital abnormalities, notably the presence of a tracheoesophageal fistula, esophageal atresia, encephalocele, or Congenital High Airway Obstructive Syndrome (CHAOS). We present the case of a newborn with no identified intrapartum abnormalities with respiratory distress at birth secondary to near-complete laryngeal atresia. Management included tracheostomy, repeated endoscopic incisions, and serial balloon dilatations employing the topical use of Mitomycin C. Seven year follow-up was significant for mobilization of the true vocal cords bilaterally, as well as successful decannulation.

  6. Tricuspid atresia

    MedlinePlus

    Tri atresia; Valve disorder - tricuspid atresia; Congenital heart - tricuspid atresia; Cyanotic heart disease - tricuspid atresia ... Tricuspid atresia is an uncommon form of congenital heart disease. It affects about 5 in every 100, ...

  7. Congenital esophageal stenosis associated with esophageal atresia.

    PubMed

    McCann, F; Michaud, L; Aspirot, A; Levesque, D; Gottrand, F; Faure, C

    2015-04-01

    Congenital esophageal stenosis (CES) is a rare clinical condition but is frequently associated with esophageal atresia (EA). The aim of this study is to report the diagnosis, management, and outcome of CES associated with EA. Medical charts of CES-EA patients from Lille University Hospital, Sainte-Justine Hospital, and Montreal Children's Hospital were retrospectively reviewed. Seventeen patients (13 boys) were included. The incidence of CES in patients with EA was 3.6%. Fifteen patients had a type C EA, one had a type A EA, and one had an isolated tracheoesophageal fistula. Seven patients had associated additional malformations. The mean age at diagnosis was 11.6 months. All but two patients had non-specific symptoms such as regurgitations or dysphagia. One CES was diagnosed at the time of surgical repair of EA. In 12 patients, CES was suspected based on abnormal barium swallow. In the remaining four, the diagnostic was confirmed by esophagoscopy. Eleven patients were treated by dilation only (1-3 dilations/patient). Six patients underwent surgery (resection and anastomosis) because of failure of attempted dilations (1-7 dilations/patient). Esophageal perforation was encountered in three patients (18%). Three patients had histologically proven tracheobronchial remnants. CES associated with EA is frequent. A high index of suspicion for CES must remain in the presence of EA. Dilatation may be effective to treat some of them, but perforation is frequent. Surgery may be required, especially in CES secondary to ectopic tracheobronchial remnants.

  8. Two Cases of Malleostapedotomy in Congenital Oval Window Atresia

    PubMed Central

    Ahn, Sang Hyeon; Kim, Da Hee; Choi, Jae Young

    2013-01-01

    Congenital anomaly of the oval window with an abnormal facial nerve course is an uncommon embryological defect, which is related to the underdevelopment of second branchial arch derivatives. Some treatments for improving hearing levels are available; these include hearing aids, vestibulotomy, neo-oval window formation, and stapes surgeries, including incudostapedotomy and malleostapedotomy. However, surgery for congenital anomalies of the oval window has rarely been described, usually in very small series of patients. We describe two cases of congenital anomalies of the oval window with aberrant facial nerve courses. One was a 40-year-old male diagnosed with unilateral congenital oval window atresia; the other was a 10-year-old male diagnosed with bilateral congenital oval window atresia. We also describe the clinical manifestations and treatment outcomes of malleostapedotomy for congenital anomalies of the oval window with aberrant facial nerve courses. PMID:24653925

  9. Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects

    PubMed Central

    Smigiel, Robert; Misiak, Blazej; Golebiowski, Waldemar; Lebioda, Arleta; Dorobisz, Urszula; Zielinska, Marzena; Patkowski, Dariusz

    2012-01-01

    Heterotaxia (HTX) is a heterogeneous group of laterality defects characterized by abnormal discordance of asymmetric thoracic and abdominal organs. Esophageal anomalies occur rarely in HTX cases although additional defects associated with esophageal atresia are common. We report on a rare case of a neonate with HTX and multiple congenital malformations as well as specific facial dysmorphism, corresponding only to a few cases described in literature. Clinical examination of the proband revealed esophageal atresia with distal tracheoesophageal fistula, anal atresia, abdominal situs inversus, dextrocardia with complex congenital heart defect and left lung agenesis. A complex genetic analysis revealed no genetic abnormalities. Despite extensive diagnostic procedures, the cause of the laterality sequence disruption remains unclear, indicating its multifactorial etiology.

  10. Esophageal atresia and anal atresia in a newborn with heterotaxia combined with other congenital defects.

    PubMed

    Smigiel, Robert; Misiak, Blazej; Golebiowski, Waldemar; Lebioda, Arleta; Dorobisz, Urszula; Zielinska, Marzena; Patkowski, Dariusz

    2012-03-01

    Heterotaxia (HTX) is a heterogeneous group of laterality defects characterized by abnormal discordance of asymmetric thoracic and abdominal organs. Esophageal anomalies occur rarely in HTX cases although additional defects associated with esophageal atresia are common. We report on a rare case of a neonate with HTX and multiple congenital malformations as well as specific facial dysmorphism, corresponding only to a few cases described in literature. Clinical examination of the proband revealed esophageal atresia with distal tracheoesophageal fistula, anal atresia, abdominal situs inversus, dextrocardia with complex congenital heart defect and left lung agenesis. A complex genetic analysis revealed no genetic abnormalities. Despite extensive diagnostic procedures, the cause of the laterality sequence disruption remains unclear, indicating its multifactorial etiology. PMID:27625802

  11. [Congenital nasal obstruction due to choanal atresia: case series].

    PubMed

    Zanetta, Adrián; Rodríguez, Hugo; Quiroga, Víctor; Cuestas, Giselle; Tiscornia, Carlos

    2012-04-01

    Nasal obstruction in neonates is a potential fatal condition because of their exclusive nasal breathing. The most common congenital causes include choanal atresia, dermoid cyst, glioma and encephalocele. Choanal atresia is the most common congenital nasal anomaly. When bilateral, it presents with respiratory distress at birth. Unilateral atresia is manifested by respiratory failure and unilateral rhinorrhea, and may go along unnoticed. Diagnosis is suspected in the absence of airfow in the nasal cavity and for the inability to advance a nasogastric tube. Diagnosis is confirmed by endoscopic examination and computed tomography. The definitive treatment is surgical, and there are different techniques and surgical approaches. We describe our experience with 7 patients with this disease, successfully treated by transnasal endoscopic technique. PMID:22451289

  12. Congenital biliary atresia and jaundice in lambs and calves.

    PubMed

    Harper, P; Plant, J W; Unger, D B

    1990-01-01

    An outbreak of congenital biliary atresia and jaundice is described, in which approximately 300 crossbred lambs and 9 crossbred calves died. The affected animals failed to thrive, developed jaundice and white scours and died within 4 weeks of birth. A common feature of this outbreak and a similar occurrence 24 years previously was the grazing of plants growing on the exposed silt foreshores of Burrinjuck Dam by ewes and cows in the early stages of pregnancy. Epidemiological and pathological findings suggested that a toxic insult to the foetus in early gestation caused choledysgenesis and biliary atresia, leading to diffuse, subacute to chronic cholangiohepatopathy and cirrhosis.

  13. Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

    PubMed Central

    2012-01-01

    Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology. PMID:22731118

  14. Prenatal diagnosis of isolated congenital pyloric atresia in a sibling.

    PubMed

    Usui, Noriaki; Kamiyama, Masafumi; Kimura, Takuya; Kamata, Shinkichi; Nose, Keisuke; Fukuzawa, Masahiro

    2013-02-01

    Although familial occurrence of congenital pyloric atresia (CPA) has been frequently reported in the past, many of these cases were associated with epidermolysis bullosa (EB), and familial isolated CPA was a relatively rare condition. We prenatally diagnosed and successfully treated a sibling of a subject with isolated CPA, who was diagnosed prenatally by fetal ultrasonography based on the findings of a distended stomach combined with polyhydramnios. The first case was a 2398-g female infant born at 36 weeks of gestation, who had been prenatally diagnosed as CPA. The second case, a younger sister of the first case, was a female infant weighing 2434 g, who had been also diagnosed as CPA by fetal ultrasonography at the check-up for the polyhydramnios of the same mother. Neither of the infants showed dermal lesions such as EB, and both underwent pyloroplasty with an excision of the pyloric membrane successfully after birth. PMID:23409992

  15. Congenital bilateral adult choanal atresia undiagnosed until the second decade: How we did it

    PubMed Central

    Lokesh, P.; Panda, Naresh K.

    2016-01-01

    Background: Bilateral congenital choanal atresia that presents in adulthood is rare. There are only eight reported cases in the literature. Method: We present a ninth case of adult bilateral choanal atresia diagnosed at the age of 20 years. Can a bilateral choanal atresia present so late in life when such a condition is considered incompatible with life? Results and conclusion: Clinical details, diagnosis, and surgical steps with a clear depiction of photographs and comparison with all other previously reported cases, which can help novel otolaryngologists in their clinical practice are discussed. PMID:27658184

  16. Congenital bilateral adult choanal atresia undiagnosed until the second decade: How we did it

    PubMed Central

    Lokesh, P.; Panda, Naresh K.

    2016-01-01

    Background: Bilateral congenital choanal atresia that presents in adulthood is rare. There are only eight reported cases in the literature. Method: We present a ninth case of adult bilateral choanal atresia diagnosed at the age of 20 years. Can a bilateral choanal atresia present so late in life when such a condition is considered incompatible with life? Results and conclusion: Clinical details, diagnosis, and surgical steps with a clear depiction of photographs and comparison with all other previously reported cases, which can help novel otolaryngologists in their clinical practice are discussed.

  17. Applications of titanium mesh tubing in external ear canal reconstruction in congenital aural atresia.

    PubMed

    Chen, Junming; Liang, Hairong; Wang, Yuejian; Yu, Youjun

    2015-04-01

    The aim of this study was to observe the effect of a titanium tube on external auditory canal reconstruction in congenital aural atresia and to assess the tube's effectiveness in preventing external canal stenosis or atresia after reconstruction. Reconstruction of the external ear canal with a titanium mesh tube was performed in 16 patients (16 ears) with congenital aural atresia at the First People's Hospital of Foshan. The titanium mesh tube was removed 1 year after surgery. The patients were followed up for 2 years (2 ± 0.3 years), and all of the patients had formed a new external ear canal. There was no local infection, granulation tissue, re-stenosis, or atresia in any of the patients after surgery. All of the patients were content with their newly formed external ear canal. Titanium mesh tubing is safe and effective for reconstruction of the external ear canal during surgery for congenital aural atresia.

  18. Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy

    PubMed Central

    Verma, Ritu; Jana, Manisha; Bhalla, Ashu Seith; Kumar, Arvind; Kumar, Rakesh

    2016-01-01

    Aural atresia is a rare congenital malformation of the external and middle ear. There are several syndromic associations of this anomaly with those involving the first and second branchial arches. Occurrence of aural atresia with sclerosing skeletal dysplasia is unknown and has never been reported. The co-existence of a sclerosing dysplasia can make the surgical treatment in aural atresia difficult and risky; and the auditory improvement may not be as expected. Moreover, internal auditory canal narrowing and hence sensorineural hearing loss in sclerosing dysplasia might add to the already existing conductive hearing loss in such patients. In this case report we have described an unknown association of bilateral microtia with sclerosing skeletal dysplasia (autosomal dominant osteopetrosis) and clinical implications of these two conditions occurring together leading to a change in the management plan. PMID:27170934

  19. Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy.

    PubMed

    Verma, Ritu; Jana, Manisha; Bhalla, Ashu Seith; Kumar, Arvind; Kumar, Rakesh

    2016-05-01

    Aural atresia is a rare congenital malformation of the external and middle ear. There are several syndromic associations of this anomaly with those involving the first and second branchial arches. Occurrence of aural atresia with sclerosing skeletal dysplasia is unknown and has never been reported. The co-existence of a sclerosing dysplasia can make the surgical treatment in aural atresia difficult and risky; and the auditory improvement may not be as expected. Moreover, internal auditory canal narrowing and hence sensorineural hearing loss in sclerosing dysplasia might add to the already existing conductive hearing loss in such patients. In this case report we have described an unknown association of bilateral microtia with sclerosing skeletal dysplasia (autosomal dominant osteopetrosis) and clinical implications of these two conditions occurring together leading to a change in the management plan. PMID:27170934

  20. [A fully-implantable active hearing device in congenital auricular atresia].

    PubMed

    Siegert, R; Neumann, C

    2014-07-01

    Active implantable hearing devices were primarily developed for sensorineural hearing loss. The vibrator coupling mechanisms were oriented towards normal middle ear anatomy and function. The aim of this project was to modify the only fully implantable hearing device with an implantable microphone for application in congenital auricular atresia, Carina™, and to introduce the modified device into the clinic. A special prosthesis was developed for the transducer and its individual coupling achieved by a special cramping system. The system was implanted in 5 patients with congenital auricular atresia. Audiological results were good; with patients' hearing gain exceeding 30 dB HL. Anatomic limits to the system's indications and technical drawbacks are also discussed. PMID:25056646

  1. A study of associated congenital anomalies with biliary atresia

    PubMed Central

    Gupta, Lucky; Bhatnagar, Veereshwar

    2016-01-01

    Background/Purpose: This study aims to analyze the incidence and type of various associated anomalies among infants with extrahepatic biliary atresia (EHBA), compare their frequency with those quoted in the existing literature and assess their role in the overall management. Materials and Methods: A retrospective study was performed on 137 infants who underwent the Kasai procedure for EHBA during the past 12 years. The medical records were reviewed for the incidence and type of associated anomalies in addition to the details of the management of the EHBA. Results: Of the137 infants, 40 (29.2%) were diagnosed as having 58 anomalies. The majority of patients had presented in the 3rd month of life; mean age was 81 ± 33 days (range = 20-150 days). There were 32 males and 8 females; boys with EHBA had a higher incidence of associated anomalies. Of these 40 patients, 22 (37.9%) had vascular anomalies, 13 patients (22.4%) had hernias (umbilical-10, inguinal-3), 7 patients (12.1%) had intestinal malrotation, 4 patients (6.8%) had choledochal cyst, 1 patient (1.7%) had Meckel's diverticulum, 3 patients (5%) had undergone prior treatment for jejunoileal atresias (jejunal-2, ileal-1), 2 patients (3.4%) had undergone prior treatment for esophageal atresia and tracheoesophageal fistula, 2 patients (3.4%) had spleniculi, and 2 patients (3.4%) were diagnosed as having situs inversus. Conclusions: The most common associated anomalies in our study were related to the vascular variation at the porta hepatis and the digestive system. The existence of anomalies in distantly developing anatomic regions in patients with EHBA supports the possibility of a “generalized” insult during embryogenesis rather than a “localized” defect. In addition, male infants were observed to have significantly more associated anomalies as compared with the female infants in contrast to earlier reports. PMID:26862288

  2. Anal atresia, abnormal genitalia, and absent thumb: congenital malformations associated with mosaic ring chromosome 13.

    PubMed

    Ocak, Z; Ozlu, T; Vural, M

    2013-01-01

    Because of the deletion of a segment of the chromosome during the formation of a ring, several clinical findings may be associated with ring chromosomes. Ring chromosome 13 is one of such disorders in which the genotype-phenotype correlation is stronger by virtue of the accumulating literature. It can be associated with multiple congenital abnormalities and severe mental retardation. We report a case with mosaic ring chromosome 13 whose prenatal ultrasound revealed bilateral ventriculomegaly. Anal atresia, unidentifiable external genitalia, and an absent thumb were observed in the postmortem examination.

  3. Technique of percutaneous laser-assisted valve dilatation for valvar atresia in congenital heart disease.

    PubMed Central

    Rosenthal, E; Qureshi, S A; Kakadekar, A P; Anjos, R; Baker, E J; Tynan, M

    1993-01-01

    OBJECTIVE--To investigate the efficacy and safety of transcatheter laser-assisted valve dilatation for atretic valves in children with congenital heart disease. DESIGN--Prospective clinical study. SETTING--Supraregional paediatric cardiology centre. SUBJECTS--Eleven children (aged 1 day-11 years; weight 2.1-35.7 kg) with atresia of pulmonary (10) or tricuspid (one) valve underwent attempted laser-assisted valve dilatation as part of the staged treatment of their cyanotic heart disease. INTERVENTION--After delineating the atretic valve by angiography and/or echocardiography a 0.018 inch "hot tip" laser wire was used to perforate the atretic valve. Subsequently the valve was dilated with conventional balloon dilatation catheters up to the valve annulus diameter. RESULTS--Laser-assisted valve dilatation was successfully accomplished in nine children. In two neonates with pulmonary valve atresia, intact ventricular septum, and coexistent infundibular atresia the procedure resulted in cardiac tamponade: one died immediately and one later at surgery. During a follow up of 1-17 months (mean 11) two infants with pulmonary valve atresia and intact ventricular septum died (one with congestive cardiac failure). The remainder are either well palliated and do not require further procedures (three), or are awaiting further transcatheter or surgical procedures because of associated defects (four). CONCLUSIONS--Laser-assisted valve dilatation is a promising adjunct to surgery in this high risk group of patients. It may avoid surgery in some patients, and may reduce the number of surgical procedures in those requiring staged operations. Images PMID:8343325

  4. Anatomic Variants on Computed Tomography in Congenital Aural Atresia and Stenosis

    PubMed Central

    Qin, Feng-hua; Dai, Peidong; Yang, Lin

    2015-01-01

    Objectives To quantitatively analyzing the anatomic variants on temporal computed tomography (CT) in congenital external auditory canal stenosis (EACS), congenital aural atresia (CAA), and normal ear structure. Methods Through a retrospective study, we analyzed 142 temporal high-resolution CT studies performed in 71 microtia patients. The following 6 parameters were compared among the three groups: Marx classification, medial canal diameter, vertical facial nerve (VFN) anterior displacement, tegmen mastoideum position, tympanic cavity volume, and malleus-incus joint or malleus-incus complex (MIC) area. Results The results showed that the microtia distributions in the Marx classification in these three groups were significantly different, as 86% (31 of 35) of ears with major microtia (third-degree dysplasia) had an atresia, and in 54.8% (23 of 42) of the minor microtic (first-degree or second-degree) ears, the bony or cartilaginous part of the external auditory canal was stenotic. Measurement data also showed that the potential medial canal diameter of the atresia group was obviously shorter than that of the stenosis group. The VFN anterior displacement and temporomandibular joint backward-shift together lead to medial canal diameters in ears with atresic canals that is smaller than those with stenotic canals. The tegmen mastoideum position was not significantly different between the three groups. Conclusion The mal-development of the external auditory canal is significantly associated with auricle and middle ear developmental anomalies. Compared with CAA ears, EACS have better development of the auricle, canal, tympanic cavity and MIC and relatively safer surgical operation except for the position of the tegmen mastoideum and the VFN. PMID:26622948

  5. Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH

    PubMed Central

    Veltman, Joris A.; Jonkers, Yvonne; Nuijten, Inge; Janssen, Irene; van der Vliet, Walter; Huys, Erik; Vermeesch, Joris; Van Buggenhout, Griet; Fryns, Jean-Pierre; Admiraal, Ronald; Terhal, Paulien; Lacombe, Didier; van Kessel, Ad Geurts; Smeets, Dominique; Schoenmakers, Eric F. P. M.; van Ravenswaaij-Arts, Conny M.

    2003-01-01

    Deletions of the long arm of chromosome 18 occur in ∼1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in ∼66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA, of whom 18 had microscopically visible 18q deletions. The extent and nature of the chromosome-18 deletions were studied in detail by array-based comparative genomic hybridization (arrayCGH). High-resolution chromosome-18 profiles were obtained for all patients, and a critical region of 5 Mb that was deleted in all patients with CAA could be defined on 18q22.3-18q23. Therefore, this region can be considered as a candidate region for aural atresia. The array-based high-resolution copy-number screening enabled a refined cytogenetic diagnosis in 12 patients. Our approach appeared to be applicable to the detection of genetic mosaicisms and, in particular, to a detailed delineation of ring chromosomes. This study clearly demonstrates the power of the arrayCGH technology in high-resolution molecular karyotyping. Deletion and amplification mapping can now be performed at the submicroscopic level and will allow high-throughput definition of genomic regions harboring disease genes. PMID:12740760

  6. External auditory canal atresia of probable congenital origin in a dog.

    PubMed

    Schmidt, K; Piaia, T; Bertolini, G; De Lorenzi, D

    2007-04-01

    A nine-month-old Labrador retriever was referred to the Clinica Veterinaria Privata San Marco because of frequent headshaking and downward turning of the right ear. Clinical examination revealed that there was no external acoustic meatus in the right ear. Computed tomography confirmed that the vertical part of the right auditory canal ended blindly, providing a diagnosis of external auditory canal atresia. Cytological examination and culture of fluid from the canal and the bulla revealed only aseptic cerumen; for this reason, it was assumed that the dog was probably affected by a congenital developmental deformity of the external auditory canal. Reconstructive surgery was performed using a "pull-through" technique. Four months after surgery the cosmetic and functional results were satisfactory.

  7. Congenital diaphragmatic hernia associated with oesophageal atresia and tracheo-oesophageal fistula in a low birth weight infant

    PubMed Central

    Abdul Haium, Abdul Alim; Sim, Siam Wee; Ong, Lin Yin; Rajadurai, Victor Samuel

    2013-01-01

    The cooccurrence of congenital diaphragmatic hernia and oesophageal atresia with distal tracheo-oesophageal fistula is very rare and carries high mortality. Very few anecdotal case reports and one case series have been reported in the literature. We report a case of a late preterm, low birth weight infant with this rare association who was successfully managed by staged surgical approach and had good outcome. PMID:23964045

  8. Efficacy of Lower-Extremity Venous Thrombolysis in the Setting of Congenital Absence or Atresia of the Inferior Vena Cava

    SciTech Connect

    Ganguli, Suvranu Kalva, Sanjeeva; Oklu, Rahmi; Walker, T. Gregory; Datta, Neil; Grabowski, Eric F.; Wicky, Stephan

    2012-10-15

    Purpose: A rare but described risk factor for deep venous thrombosis (DVT), predominately in the young, is congenital agenesis or atresia of the inferior vena cava (IVC). The optimal management for DVT in this subset of patients is unknown. We evaluated the efficacy of pharmacomechanical catheter-directed thrombolysis (PCDT) followed by systemic anticoagulation in the treatment of acute lower-extremity DVT in the setting of congenital IVC agenesis or atresia. Materials and Methods: Between November of 2005 and May of 2010, six patients (three women [average age 21 years]) were referred to our department with acute lower-extremity DVT and subsequently found to have IVC agenesis or atresia on magnetic resonance imaging. A standardized technique for PCDT (the Angiojet Rheolytic Thrombectomy System followed by the EKOS Microsonic Accelerated Thrombolysis System) was used for all subjects. Successful thrombolysis was followed by systemic heparinization with transition to Coumadin or low molecular-weight heparin and compression stockings. Subjects were followed-up at 1, 3, and then every 6 months after the procedure with clinical assessment and bilateral lower-extremity venous ultrasound. Results: All PCDT procedures were technically successful. No venous stenting or angioplasty was performed. The average thrombolysis time was 28.6 h (range 12-72). Two patients experienced heparin-induced thrombocytopenia, and one patient developed a self-limited knee hemarthrosis, No patients were lost to follow-up. The average length of follow-up was 25.8 {+-} 20.2 months (range 3.8-54.8). No incidence of recurrent DVT was identified. There were no manifestations of postthrombotic syndrome. Conclusions: PCDT followed by systemic anticoagulation and the use of compression stockings appears to be safe and effective in relatively long-term follow-up treatment of patients who present with acute DVT and IVC agenesis or atresia.

  9. Imaging of congenital pulmonary malformations.

    PubMed

    Praticò, Francesco Emanuele; Corrado, Michele; Della Casa, Giovanni; Parziale, Raffaele; Russo, Giuseppe; Gazzani, Silvia Eleonora; Rossi, Enrica; Borgia, Daniele; Mostardi, Maurizio; Bacchini, Emanuele; Cella, Simone; De Filippo, Massimo

    2016-01-01

    Congenital pulmonary malformations represent a broad spectrum of anomalies that may result in varied clinical and pathologic pictures, ranging from recurrent pulmonary infections and acute respiratory distress syndrome, which require timely drug therapy, up to large space-occupying lesions needing surgical treatment. This classification includes three distinct anatomical and pathological entities, represented by Congenital Cystic Adenomatoid Malformation, Bronchopulmonary Sequestration and Congenital Lobar Emphysema. The final result in terms of embryological and fetal development of these alterations is a Congenital Lung Hypoplasia. Since even Bronchial Atresia, Pulmonary Bronchogenic Cysts and Congenital Diaphragmatic Hernias are due to Pulmonary Hypoplasia, these diseases will be discussed in this review (1, 2). PMID:27467867

  10. Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.

    PubMed

    Veenma, Danielle; Brosens, Erwin; de Jong, Elisabeth; van de Ven, Cees; Meeussen, Connie; Cohen-Overbeek, Titia; Boter, Marjan; Eussen, Hubertus; Douben, Hannie; Tibboel, Dick; de Klein, Annelies

    2012-03-01

    The occurrence of phenotypic differences between monozygotic (MZ) twins is commonly attributed to environmental factors, assuming that MZ twins have a complete identical genetic make-up. Yet, recently several lines of evidence showed that both genetic and epigenetic factors could have a role in phenotypic discordance after all. A high occurrence of copy number variation (CNV) differences was observed within MZ twin pairs discordant for Parkinson's disease, thereby stressing on the importance of post-zygotic mutations as disease-predisposing events. In this study, the prevalence of discrepant CNVs was analyzed in discordant MZ twins of the Esophageal Atresia (EA) and Congenital Diaphragmatic Hernia (CDH) cohort in the Netherlands. Blood-derived DNA from 11 pairs (7 EA and 4 CDH) was screened using high-resolution SNP arrays. Results showed an identical copy number profile in each twin pair. Mosaic chromosome gain or losses could not be detected either with a detection threshold of 20%. Some of the germ-line structural events demonstrated in five out of eleven twin pairs could function as a susceptible genetic background. For example, the 177-Kb loss of chromosome 10q26 in CDH pair-3 harbors the TCF7L2 gene (Tcf4 protein), which is implicated in the regulation of muscle fiber type development and maturation. In conclusion, discrepant CNVs are not a common cause of twin discordancy in these investigated congenital anomaly cohorts. PMID:22071887

  11. Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

    PubMed

    Tassano, Elisa; Jagannathan, Vidhya; Drögemüller, Cord; Leoni, Massimiliano; Hytönen, Marjo K; Severino, Mariasavina; Gimelli, Stefania; Cuoco, Cristina; Di Rocco, Maja; Sanio, Kirsi; Groves, Andrew K; Leeb, Tosso; Gimelli, Giorgio

    2015-03-01

    We report on the molecular characterization of a microdeletion of approximately 2.5 Mb at 2p11.2 in a female baby with left congenital aural atresia, microtia, and ipsilateral internal carotid artery agenesis. The deletion was characterized by fluorescence in situ hybridization, array comparative genomic hybridization, and whole genome re-sequencing. Among the genes present in the deleted region, we focused our attention on the FOXI3 gene. Foxi3 is a member of the Foxi class of Forkhead transcription factors. In mouse, chicken and zebrafish Foxi3 homologues are expressed in the ectoderm and endoderm giving rise to elements of the jaw as well as external, middle and inner ear. Homozygous Foxi3-/- mice have recently been generated and show a complete absence of the inner, middle, and external ears as well as severe defects in the jaw and palate. Recently, a 7-bp duplication within exon 1 of FOXI3 that produces a frameshift and a premature stop codon was found in hairless dogs. Mild malformations of the outer auditory canal (closed ear canal) and ear lobe have also been noted in a fraction of FOXI3 heterozygote Peruvian hairless dogs. Based on the phenotypes of Foxi3 mutant animals, we propose that FOXI3 may be responsible for the phenotypic features of our patient. Further characterization of the genomic region and the analysis of similar patients may help to demonstrate this point.

  12. Pulmonary atresia

    MedlinePlus

    ... disease - pulmonary atresia; Cyanotic heart disease - pulmonary atresia; Valve - disorder pulmonary atresia ... septum may also have a poorly developed tricuspid valve. They may also have an underdeveloped right ventricle ...

  13. Complicated intestinal atresias.

    PubMed

    Miller, R C

    1979-05-01

    In this group of 45 intestinal atresia patients (duodenum, 16; jejunum, 24; ileum five) at the University of Mississippi Medical Center, individual hospitalizations ranged up to 245 days. Twelve patients required multiple operations, and the overall mortality rate was 22% (ten patients). While the patients with duodenal atresia had the greatest incidence of other congenital anomalies, including Down's syndrome, the patients with jejunal atresia presented with the most challenging surgical problems. Of the 24 jejunal atresia patients, only three had a single, simple area of obstruction. The remainder were complicated by other gastrointestinal lesions (five patients), by multiple areas of atresia (seven patients) including those in one surviving patient with 22 separate atretic segments, and by the Christmas tree deformity (nine patients). Intraoperative management of the complicated atresia should include: 1) grouping of multiple atresias during resection, 2) adequate resection of the dilated proximal atonic loop, 3) end-to-end anastomoses, 4) avoidance of intraluminal catheters, 5) additional resection of a segment of the distal loop in the Christmas tree deformity and 6) consideration of the shish kebab technique for multiple atretic webs. Postoperative management should involve early intravenous nutrition and repeated exploration for continued obstruction.

  14. Duodenal atresia

    MedlinePlus

    ... would. Many infants with duodenal atresia also have Down syndrome. Duodenal atresia is often associated with other birth ... abnormality. Other problems (such as those related to Down syndrome) must be treated as appropriate. Outlook (Prognosis) Recovery ...

  15. A population-based case-control study on the effect of bronchial asthma during pregnancy for congenital abnormalities of the offspring.

    PubMed

    Tamási, Lilla; Somoskövi, Akos; Müller, Veronika; Bártfai, Zoltán; Acs, Nándor; Puhó, Erzsébet; Czeizel, Andrew E

    2006-01-01

    Bronchial asthma is one of the most common maternal diseases complicating pregnancy. We assessed the risks of congenital abnormalities in a case-control population-based analysis using the dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities between 1980 and 1996. Of the 22,843 cases with congenital abnormalities, 511 (2.2%) had mothers with bronchial asthma, while of the 38,151 matched control subjects without congenital abnormalities 757 (2.0%) had mothers with bronchial asthma (unadjusted prevalence odds ratios [POR] 1.2; 95% CI: 1.0-1.3). In all mothers with bronchial asthma, a higher incidence of respiratory tract infections and higher drug intake could be observed. In the case group of medically recorded bronchial asthma, a slightly increased risk for club foot has been revealed. However, this weak association could be explained by the higher proportion of preterm births in this group. The main limitation of the analysis was that at the time of data collection only a small proportion of pregnant mothers were using anti-asthma medications recommended by the actual guidelines.

  16. National Esophageal Atresia Register.

    PubMed

    Sfeir, Rony; Michaud, Laurent; Sharma, Duyti; Richard, Florence; Gottrand, Frédéric

    2015-12-01

    National Esophageal Atresia was created in 2008 by the National Reference Center for Esophageal Congenital Abnormalities created in 2006. Primary goal was estimation of live birth prevalence in France. A national network of surgeons and pediatricians was initiated and entire teams dealing with esophageal atresia accepted to participate in an exhaustive national register. A questionnaire was validated by a national committee and data were centralized in our center. Scientific exploitation showed that such database is useful for health authorities as for medical professionals. Live birth prevalence in France is at 1.9/10,000 births. Prenatal diagnosis is more common but its effect on prevalence is not yet fully understood. Associated congenital abnormalities are frequent and major malformations with termination of pregnancy can influence prevalence. PMID:26642387

  17. A case of split notochord syndrome with congenital ileal atresia, the total absence of a colon, and a dorsal enteric cyst communicating to the retroperitoneal isolated ceca with a vesical fistula.

    PubMed

    Asagiri, Kimio; Yagi, Minoru; Tanaka, Yoshiaki; Akaiwa, Masao; Asakawa, Takahiro; Kaida, Akiko; Kobayashi, Hidefumi; Tanaka, Hiroaki

    2008-09-01

    Split notochord syndrome (SNS) is an extremely rare anomaly. This report presents the case of a male infant with SNS associated with congenital ileal atresia and a dorsal enteric cyst communicating to the retroperitoneal isolated ceca with a vesical fistula. Dorsal fistulography and vesicography were useful and essential for the detailed study of the topology in this patient. The embryological mechanism and etiologic theories are discussed with a review of 19 cases reported in the literature.

  18. [Epithelium and anal glands in rectal pouches and fistula. Histologic studies of swine with congenital anal atresia].

    PubMed

    Lambrecht, W; Kluth, D; Lierse, W

    1989-02-01

    The epithelial coating of the rectal pouch and fistula was studied morphologically in 33 newborn piglets with high and low forms of anal atresia and was found to be similar to the epithelial coating of the anal canal in normal piglets: the typical epithelium of the rectum changed its character into transitional epithelium at the region of the internal sphincter which surrounded the fistulae in all animals. In the caudal part of the fistula the transitional epithelium was followed by squamous epithelium. Only in male piglets with deformities and recto-urethral fistulae no squamous epithelium was found. In these cases transitional epithelium covered all parts of the fistula and the region of the internal sphincter. Anal glands were found in all animals, with or without anorectal malformations. They always invaded the internal sphincter. According to our morphological studies the fistula in anorectal malformations represents an ectopic anal canal.

  19. Colon atresia, facial hemiaplasia, and anophthalmia: a case report.

    PubMed

    Szavay, Philipp O; Schliephake, Henning; Hubert, Oliver; Glüer, Sylvia

    2002-10-01

    A case of a newborn with atresia of the transverse colon and right facial hemiaplasia, anophthalmia, and cerebral dysfunction is reported. Colon atresia is a rare cause of congenital bowel obstruction and often associated with other malformations such as abdominal wall defects, gastrointestinal, cardiac, urogenital, and musculosceletal lesions. Facial hemiaplasia may arise in frame of chromosomal defects or as a result of neurovascular compromise caused by congenital amniotic bands. However, the combination of colon atresia and facial hemiaplasia has not been reported before.

  20. [Biliary atresia and polysplenia syndrome].

    PubMed

    Kerkeni, Yosra; Ksia, Amine; Zitouni, Hayet; Belghith, Mohsen; Lassad, Sahnoun; Krichene, Imed; Mekki, Mongi; Nouri, Abdellatif

    2015-01-01

    Polysplenia syndrome is a rare malformation characterized by the association of multiple rates and other congenital anomalies dominated by cardiac, vascular, intestinal and bile malformations. We report the observation of a patient operated in the neonatal period (3 days) for an upper intestinal obstruction with situs inversus. Surgical exploration noted the presence of multiple rates, a preduodenal vein, a biliary atresia and a duodenal atresia. The surgical procedures performed were a latero-lateral duodeno-duodenostomy and hepatoportoenterostomy of KASAI with simple immediate and delayed outcomes. The follow up was of 23 years. We recall the epidemiological characteristics of this malformative association and we discuss the role played by the prognosis of polysplenia syndrome in the evolution of biliary atresia. The diagnosis and treatment of biliary atresia are always urgent to increase the chances of success of the Kasai, and the chances of prolonged survival with native liver. However, almost all long-term survivors (even anicteric) have biliary cirrhosis, which requires lifelong follow up. PMID:26815511

  1. Pulmonary Atresia

    MedlinePlus

    ... Defects_UCM_307037_Article.jsp Single Ventricle Defects Texas Adult Congenital Heart Center (TACH) www.bcm.edu/ ... comments. Terms of Use and Privacy Policy © Copyright Texas Heart Institute All rights reserved.

  2. Congenital atresia of the inferior vena cava and antithrombin III deficiency in a young adult: compounding risk factors for deep vein thrombosis.

    PubMed

    Muscianese, Laura; Seese, Ronald R; Graham, William; Williams, James H

    2015-01-01

    Atresia, or absence, of the inferior vena cava (AIVC) is a rare, usually fortuitous finding on advanced imaging that predisposes patients to deep venous thrombosis (DVT). In young adults who lack predisposing risk factors but nonetheless develop extensive or bilateral DVTs, AIVC should be considered. We describe a case of a previously healthy 17-year-old male patient who developed an extensive renal vein thrombus due to the absence of the superior portion of his IVC compounded with previously undiagnosed antithrombin III deficiency. We discuss the diagnosis and management of this complicated condition.

  3. Microdeletion 22q11 and oesophageal atresia

    PubMed Central

    Digilio, M. C.; Marino, B.; Bagolan, P.; Giannotti, A.; Dallapiccola, B.

    1999-01-01

    Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q11.2) by fluorescent in situ hybridisation (FISH) in 15 syndromic patients with OA. Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal hypocalcaemia, and subtle facial anomalies resembling those of velocardiofacial syndrome. The occurrence of del(22q11.2) in our series of patients with OA is low (1/15), but this chromosomal anomaly should be included among causative factors of malformation complexes with OA. In addition, clinical variability of del(22q11.2) syndrome is further corroborated with inclusion of OA in the list of the findings associated with the deletion.


Keywords: microdeletion 22q11; oesophageal atresia; VACTERL association; velocardiofacial syndrome PMID:10051013

  4. Pulmonary imaging abnormalities in an adult case of congenital lobar emphysema.

    PubMed

    Pike, Damien; Mohan, Sindu; Ma, Weijing; Lewis, James F; Parraga, Grace

    2015-02-01

    Congenital lobar emphysema is mainly diagnosed in infants, although rare cases are reported in adults. A 20-yr-old female with acute dyspnea, chest pain and left upper lobe (LUL) chest x-ray hyperlucency underwent 3He magnetic resonance imaging (MRI) for ventilation and apparent diffusion coefficient (ADC) measurements, as well as CT for emphysema and airway wall measurements. Forced expiratory volume in 1s, residual volume, and airways-resistance were abnormal, but there was normal carbon-monoxide-diffusing-capacity. The LUL relative area of the density histogram <-950 HU and airway morphology were highly abnormal compared with the other lobes and coincident with highly abnormal MRI-derived acinar duct dimensions. CT also identified bronchial atresia and congenital lobar emphysema as the source of symptoms in this case where there was also functional imaging evidence of collateral ventilation from the fissure (and not the abnormally terminated airway) into the emphysematous LUL.

  5. Rhizomelia with anal atresia and anophthalmia: a new syndrome?

    PubMed

    Ozlem, Giray; Elçin, Bora; Ayfer, Ulgenalp; Oguz, Ateş; Erdener, Ozer; Derya, Erçal

    2008-01-01

    We report a newborn who presented with an unreported combination of anophthalmia, anal atresia, rhizomelia, dextrocardia and corpus callosum agenesis. Clinical and postmortem findings did not match any previously described syndromes with the type of anomalies seen in this patient. We suggested that this combination of congenital malformations might represent a new syndrome.

  6. Myoarchitecture and connective tissue in hearts with tricuspid atresia

    PubMed Central

    Sanchez-Quintana, D; Climent, V; Ho, S; Anderson, R

    1999-01-01

    Objective—To compare the atrial and ventricular myoarchitecture in the normal heart and the heart with tricuspid atresia, and to investigate changes in the three dimensional arrangement of collagen fibrils.
Methods—Blunt dissection and cell maceration with scanning electron microscopy were used to study the architecture of the atrial and ventricular musculature and the arrangement of collagen fibrils in three specimens with tricuspid atresia and six normal human hearts.
Results—There were significant modifications in the myoarchitecture of the right atrium and the left ventricle, both being noticeably hypertrophied. The middle layer of the ventricle in the abnormal hearts was thicker than in the normal hearts. The orientation of the superficial layer in the left ventricle in hearts with tricuspid atresia was irregular compared with the normal hearts. Scanning electron microscopy showed coarser endomysial sheaths and denser perimysial septa in hearts with tricuspid atresia than in normal hearts.
Conclusions—The overall architecture of the muscle fibres and its connective tissue matrix in hearts with tricuspid atresia differed from normal, probably reflecting modelling of the myocardium that is inherent to the malformation. This is in concordance with clinical observations showing deterioration in pump function of the dominant left ventricle from very early in life.

 Keywords: tricuspid atresia; congenital heart defects; connective tissue; fibrosis PMID:9922357

  7. Bronchial thermoplasty.

    PubMed

    Kynyk, Jessica; Benninger, Cathy; Wood, Karen L

    2014-02-01

    Bronchial thermoplasty is a relatively new therapy for the management of severe asthma. It involves the direct bronchoscopic application of thermal energy to airways by a catheter-directed expandable basket. The airways of the lower and upper lobes are treated in 3 separate sessions spaced 3 weeks apart. The therapy targets airway smooth muscle, with studies showing a decrease in airway smooth muscle after bronchial thermoplasty therapy. After therapy, an improvement in quality of life and decrease in asthma exacerbations can be expected. Adverse events can occur with bronchial thermoplasty and careful patient selection is critical to ensure benefits outweigh the potential risks.

  8. Bronchial Disorders

    MedlinePlus

    ... when the airways shrink while you are exercising Bronchiolitis, an inflammation of the small airways that branch off from the bronchi Bronchopulmonary dysplasia, a condition affecting infants Treatment of bronchial disorders depends on the cause.

  9. Motility, digestive and nutritional problems in Esophageal Atresia.

    PubMed

    Gottrand, Madeleine; Michaud, Laurent; Sfeir, Rony; Gottrand, Frédéric

    2016-06-01

    Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is a rare congenital malformation. Digestive and nutritional problems remain frequent in children with EA both in early infancy and at long-term follow-up. These patients are at major risk of presenting with gastroesophageal reflux and its complications, such as anastomotic strictures. Esophageal dysmotility is constant, and can have important consequences on feeding and nutritional status. Patients with EA need a systematic follow-up with a multidisciplinary team. PMID:26752295

  10. Familial pulmonary atresia. Its occurrence with a ventricular septal defect.

    PubMed

    DiChiara, J A; Pieroni, D R; Gingell, R L; Bannerman, R M; Vlad, P

    1980-05-01

    To our knowledge, this is the first reported case of pulmonary atresia with a ventricular septal defect that occurred in a father and his son. A multifactorial mode of determination that resulted from an interaction between genetic predisposition and environmental factors was assumed, since the family history did not show other members with congenital heart defects. Based on the background and on information from the multifactorial theory of inheritance, a counseling plan was formulated for these parents. A similar approach is recommended for the many surgical survivors of previously uncorrectable complex congenital heart defects as they approach reproductive age.

  11. Trilogy of foregut, midgut and hindgut atresias presenting in reverse order

    PubMed Central

    Patel, Ramnik V; Jackson, Paul; De Coppi, Paolo; Pierro, Agostino

    2014-01-01

    We present a case of triple gut atresias (foregut, midgut and hindgut) with multiple congenital anomalies presenting as imperforate anus. Abdominal radiography showed the double bubble sign. Upper gastrointestinal study through a nasogastric tube confirmed duodenal obstruction. Exploratory laparotomy, duodeno-duodenostomy for duodenal atresia and a left descending colostomy for anorectal malformation were performed. During extubation, the nasogastric tube came out and could not be reinserted by the anaesthetic team under laryngoscopic guidance. A chest radiograph showed the tube curled in the upper pouch. Bronchoscopy and oesophagoscopy confirmed oesophageal atresia (OA) with a distal tracheoesophageal fistula (TOF). The patient underwent right-sided extrapleural thoracotomy and division of the fistula with primary repair of OA uneventfully. Triple gut atresias presenting in reverse order with multiple anomalies is rare and passage of a nasogastric tube into the stomach in the presence of OA+TOF is exceptional. Alimentary tract obstruction should be corrected in proximal to distal direction. PMID:24835810

  12. Coexisting urogenital anomaly and duodenal atresia in two atypical Holt–Oram syndrome

    PubMed Central

    Ali, Tuncer Ahmet; Afra, Karavelioğlu; Didem, Baskin Embleton; Muhsin, Elmas

    2016-01-01

    Holt–Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature.

  13. Coexisting urogenital anomaly and duodenal atresia in two atypical Holt–Oram syndrome

    PubMed Central

    Ali, Tuncer Ahmet; Afra, Karavelioğlu; Didem, Baskin Embleton; Muhsin, Elmas

    2016-01-01

    Holt–Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature. PMID:27695215

  14. Anaesthesia for biliary atresia and hepatectomy in paediatrics

    PubMed Central

    Jacob, Rebecca

    2012-01-01

    The scope of this article precludes an ‘in depth’ description of all liver problems and I will limit this review to anaesthesia for biliary atresia — a common hepatic problem in the very young — and partial hepatectomy in older children. I will not be discussing the problems of anaesthetising children with hepatitis, cirrhosis, congenital storage diseases or liver failure. Extrahepatic biliary obstruction is an obliterative cholangiopathy of infancy which is fatal if untreated. Diagnosis involves exclusion of other causes of neonatal jaundice and treatment involves a hepatico portoenterostomy carried out at the earliest. This is a review of current concepts in anaesthesia and postoperative management of neonates with extrahepatic biliary atresia. Anaesthesia for hepatic resection has seen great changes in recent times with the improvement in surgical techniques, technology and a better understanding of the underlying physiology. These are reviewed along with the problems of postoperative pain management. PMID:23293387

  15. Newborn Screening for Biliary Atresia

    PubMed Central

    Wang, Kasper S.

    2016-01-01

    Biliary atresia is the most common cause of pediatric end-stage liver disease and the leading indication for pediatric liver transplantation. Affected infants exhibit evidence of biliary obstruction within the first few weeks after birth. Early diagnosis and successful surgical drainage of bile are associated with greater survival with the child’s native liver. Unfortunately, because noncholestatic jaundice is extremely common in early infancy, it is difficult to identify the rare infant with cholestatic jaundice who has biliary atresia. Hence, the need for timely diagnosis of this disease warrants a discussion of the feasibility of screening for biliary atresia to improve outcomes. Herein, newborn screening for biliary atresia in the United States is assessed by using criteria established by the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children. Published analyses indicate that newborn screening for biliary atresia by using serum bilirubin concentrations or stool color cards is potentially life-saving and cost-effective. Further studies are necessary to evaluate the feasibility, effectiveness, and costs of potential screening strategies for early identification of biliary atresia in the United States. PMID:26620065

  16. Left main coronary artery atresia and associated cardiac defects: report on concomitant surgical treatment.

    PubMed

    Jatene, Marcelo; Juaneda, Ignacio; Miranda, Rogerio Dos Anjos; Gato, Rafaella; Marcial, Miguel Lorenzo Barbero

    2011-10-01

    A 9-year-old boy with congenital atresia of the left main coronary artery underwent myocardial revascularization. Coarctation of the aorta and ventricular septal defect were diagnosed at the age of 1 year. At age 7 years, the child presented with syncope while exercising. Preoperative evaluation included cardiac catheterization which revealed the unexpected finding of congenital atresia of the left main coronary artery with origin of the circumflex artery from the right coronary artery. Surgical correction included myocardial revascularization by means of left internal mammary artery graft to the anterior descending coronary artery, coarctation resection, and ventricular septal defect repair. The patient recovered uneventfully. We report the details of this extremely rare case with successful concomitant surgical management of the congenital coronary artery anomaly and the associated structural heart disease. PMID:23804483

  17. [Stenting and redilatation of the ductus arteriosus in univentricular heart with pulmonary atresia. A case report].

    PubMed

    Hernández-González, Martha; Solorio, Sergio; Martínez-Sánchez, Arturo; Abundes, Arturo; Ledesma, Mariano; Alva, Carlos

    2002-01-01

    Complex congenital heart disease with pulmonary atresia is ductus arteriosus-dependent. Two palliative treatments have been available for years: a systemic pulmonary shunt and prostaglandin E1 infusion. Recently, interventional cardiology has offered a new procedure for these patients: stenting of the patent arterial duct. We report a case with univentricular heart and pulmonary atresia in which percutaneous balloon angioplasty and stenting of the arterial ductus were performed successfully. Nineteen months later the patient is in good clinical conditions with 75% of oxygen saturation.

  18. [CHARGE association: report of a clinical case with anal atresia and rectovaginal fistula].

    PubMed

    Rodonò, A; Romeo, M G; Sanges, G; Distefano, G

    1997-01-01

    CHARGE association is a non-random constellation of Coloboma, Heart Disease, Atresia of the choana, Retarded mental development and growth, Genital hypoplasia, Ear anomalies and deafness. We report on a newborn with CHARGE association. In addition to the typical features our case presented anal atresia and rectovaginal fistula. Our patient had congenital cardiopathy and feeding problems and died at the age of 3 months. Most case of CHARGE association appear to have a primary defect of pharyngeal incoordination that cause aspiration of secretion that is an important cause of death in the nonsurvivors.

  19. Real-time fetal magnetic resonance imaging for the dynamic visualization of the pouch in esophageal atresia.

    PubMed

    Salomon, L J; Sonigo, P; Ou, P; Ville, Y; Brunelle, F

    2009-10-01

    Esophageal atresia is the principal cause of congenital esophageal obstruction. Prenatal suspicion of esophageal atresia is usually based on the presence of polyhydramnios together with an absent stomach bubble. More recently, visualization of the dilatation of the blind-ending esophagus (esophageal pouch) during fetal swallowing has been reported and proposed as the most reliable sign for predicting esophageal atresia. Improvement of radiofrequency and computer technology as well as parallel data acquisition has greatly reduced magnetic resonance (MR) scanning time, allowing visualization of the fetus in cine-mode using fast imaging employing steady-state acquisition (FIESTA). We describe the application of FIESTA sequences in fetuses with suspected esophageal atresia for visualization of the esophageal pouch using MR imaging.

  20. [Antegrade flow in the aorta ascendens despite aortic atresia: 2 case reports with retrograde coronary perfusion through coronary fistulas and sinusoids].

    PubMed

    Jux, C; Kaulitz, R; von Wasielewski, R; Peuster, M; Fink, C; Paul, T; Hausdorf, G

    2000-06-01

    In aortic atresia, coronary perfusion normally occurs through retrograde blood flow in the ascending aorta. We report on two patients with antegrade flow in the ascending aorta despite aortic atresia. In one patient with hypoplastic left heart syndrome (aortic atresia, severe mitral stenosis), an intact interatrial septum/premature closure of the foramen ovale was found. While no other way of left atrial or ventricular decompression was found, echocardiography, angiography and the post-mortem examination showed left ventricular to coronary sinusoids as the sole pathway for systemic oxygenation. In a second patient with complex congenital heart disease, including aortic atresia, antegrade flow in the ascending aorta was through a left coronary fistula with shunt flow originating from the pulmonary trunk. This report describes systemic perfusion depending on retrograde coronary flow due to coronary-cameral (sinusoids) and coronary arterio-venous fistulas leading to the phenomenon of antegrade blood flow in the ascending aorta despite aortic atresia. PMID:10929434

  1. Persistent bronchography in a newborn with esophageal atresia.

    PubMed

    De Bernardo, Giuseppe; Sordino, Desiree; Giordano, Maurizio; Doglioni, Nicoletta; Trevisanuto, Daniele

    2016-06-01

    Esophageal atresia (EA) with tracheoesophageal fistula occurs in about 1:2,500 births. We report a case of persistent bronchography in a newborn with EA and distal tracheoesophageal fistula. A large amount of barium sulfate was injected for mistake by a tube directly in the right bronchus to evaluate the patency of the esophagus. The infant showed signs of respiratory distress; he was intubated and transported at children's Hospital Santobono Pausilipon. Here, it was performed a chest X-ray that confirmed the opacification of the right bronchial tree, and it was suspected an EA type 3b. The literature recommends that: evaluation of the patency of the esophagus, with an iodinate contrast medium, should be done in a pediatric specialized center for high risk of lung aspiration. PMID:27257464

  2. Congenital lobar emphysema

    PubMed Central

    Tural-Kara, Tuğçe; Özdemir, Halil; Çiftçi, Ergin; İnce, Erdal

    2016-01-01

    Congenital lobar emphysema is a rare disease, which is characterized by pulmoner hyperinflation. Depending on the degree of bronchial obstruction, the clinical presentation may be variable. We report a rare case with congenital lobar emphysema in a 38-days-old male infant who presented with severe respiratory distress and hypertension. Air trapping in the left upper lung and significant mediastinal shift to the right were observed on the chest x-ray. Emphysematous changes were detected on the thorax computed tomography and considered as congenital lobar emphysema. The upper left lobectomy was successfully performed by pediatric surgeons. On postoperative follow up, no sign of respiratory distress occurred and the patient was normotensive. In this report, a case with congenital lobar emphysema, which is a rare cause of respiratory distress and hypertension is discussed. PMID:27381542

  3. Successful surgical repair of complex Christmas-tree pattern tracheo-bronchial anatomy with stenosis.

    PubMed

    Abelardo, Edgardo; Hewitt, Richard; Elliott, Martin J; Muthialu, Nagarajan

    2013-07-01

    Congenital anomalies of bronchial division are extremely rare. Presence of complete cartilaginous rings in bronchial tree with co-existent bronchial division anomalies make surgical correction more challenging, and needs a well-structured surgical pathway. We report a case of complex airway pattern similar to Christmas-tree appearance with associated stenosis due to complete rings, treated by modified sliding tracheoplasty with a successful outcome.

  4. Gallbladder Duplication Associated with Gastro-Intestinal Atresia

    PubMed Central

    Gupta, Rahul; Gupta, Shilpi; Sharma, Pramila; Bhandari, Anu; Gupta, Arun Kumar; Mathur, Praveen

    2016-01-01

    Gallbladder duplication in association with other GIT anomalies is a rare entity. We report two neonates; one with duodenal atresia and the other newborn with pyloric atresia, ileal atresia and colonic atresia, both were associated with gallbladder duplication which has not been reported earlier. PMID:27123398

  5. Current Updates on Choanal Atresia

    PubMed Central

    Kwong, Kelvin M.

    2015-01-01

    Choanal atresia (CA) is a relatively uncommon but well-recognized condition characterized by the anatomical closure of the posterior choanae in the nasal cavity. Since the original description back in the early eighteenth century, there have been controversies regarding its exact pathogenesis, the optimal surgical approach, and the use of adjunct treatments such as post-surgical stenting and anti-neoplastic agents, despite of abundant literature available. The emergence and development of new technologies play a significant role in the management of this condition. This review provides a comprehensive clinical update on CA and identifies areas for future study based on the existing available literature. PMID:26106591

  6. Vibrant soundbridge in aural atresia: does severity matter?

    PubMed

    McKinnon, B J; Dumon, T; Hagen, R; Lesinskas, E; Mlynski, R; Profant, M; Spindel, J; Van Beek-King, J; Zernotti, M

    2014-07-01

    Congenital aural atresia (CAA) poses significant challenges to surgical remediation. Both bone anchored hearing aids (BAHA) and the Vibrant Soundbridge (VSB) have been considered as alternatives or adjuncts to conventional atresiaplasty. A consensus statement on VSB implantation in children and adolescents recommended against implantation when the Jahrsdoerfer score was less than 8. More recent publications suggest that patients with Jahrsdoerfer scores between three and seven may benefit from VSB implantation. The purpose of this study was to further investigate the outcomes of VSB implantation in CAA. The study was a multi-center, retrospective review. A retrospective review of data (patient's demographic, clinical, implant and audiological information) from four collaborating centers that have performed VSB implantation in CAA was performed. Outcomes based on severity of the atresia using the Jahrsdoerfer and Yellon-Branstetter scoring systems were also evaluated. Data from 28 patients from the four centers revealed no iatrogenic facial nerve injuries or change in bone thresholds. Post-operative speech threshold and speech recognition was, respectively, 39 dB and 94%. Jahrsdoerfer and Yellon scores ranged from 4 to 9 and 4 to 12, respectively. The scores did not correlate to or predict outcomes. Three individual elements of the scores did correlate to initial, but not long-term outcomes. Atresiaplasty and BAHA in the management of CAA are not complete solutions. VSB may offer an alternative in these surgically complex patients for achieving amplification, though better metrics for patient selection need to be developed. LEVEL OF EVIDENCE : IV. PMID:24030853

  7. The Canadian Biliary Atresia Registry: Improving the care of Canadian infants with biliary atresia

    PubMed Central

    Butler, Alison E; Schreiber, Richard A; Yanchar, Natalie; Emil, Sherif; Laberge, Jean-Martin

    2016-01-01

    Biliary atresia is the most common cause of end-stage liver disease and liver cirrhosis in children, and the leading indication for liver transplantation in the paediatric population. There is no cure for biliary atresia; however, timely diagnosis and early infant age at surgical intervention using the Kasai portoenterostomy optimize the prognosis. Late referral is a significant problem in Canada and elsewhere. There is also a lack of standardized care practices among treating centres in this country. Biliary atresia registries currently exist across Europe, Asia and the United States. They have provided important evidence-based information to initiate changes to biliary atresia care in their countries with improvements in outcome. The Canadian Biliary Atresia Registry was initiated in 2013 for the purpose of identifying best standards of care, enhancing public education, facilitating knowledge translation and advocating for novel national public health policy programs to improve the outcomes of Canadian infants with biliary atresia. PMID:27398049

  8. ESOPHAGEAL ATRESIA WITH RECURRENT TRACHEOESOPHAGEAL FISTULAS AND MICRODUPLICATION 22q11.23.

    PubMed

    Puvabanditsin, S; Garrow, E; February, M; Yen, E; Mehta, R

    2015-01-01

    The microduplication 22q11.2 syndrome has a wide range of clinical manifestations. The phenotype ranges from normal to mental retardation and congenital anomalies. Esophageal atresia/tracheoesophageal fistula (EA/TEF) has recently been linked with the Tbx1 gene mutation located on the long arm of chromosome 22(22q11.21). We report a case with 1.4 Mb 22q11.23 duplication detected by array-CGH. The father of this infant has the same interstitial microduplication but with a normal phenotype. The phenotype seen in our case is type C (3B) esophageal atresia, tracheoesophageal fistula, and ventricular septal defect. Our patient underwent primary repair of OA/TEF malformations, which was later complicated by pneumonia and a recurrent TEF. PMID:26625662

  9. Congenital Hypothyroidism

    MedlinePlus

    ... Body in Balance › Congenital Hypothyroidism Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. ... MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  10. Primary Transanal Management of Rectal Atresia in a Neonate.

    PubMed

    M, Braiek; A, Ksia; I, Krichen; S, Belhassen; K, Maazoun; S, Ben Youssef; N, Kechiche; M, Mekki; A, Nouri

    2016-01-01

    Rectal atresia (RA) with a normal anus is a rare anomaly. We describe a case of rectal atresia in a newborn male presenting with an abdominal distension and failure of passing meconium. The rectal atresia was primarily operated by transanal route.

  11. Primary Transanal Management of Rectal Atresia in a Neonate

    PubMed Central

    M, Braiek; A, Ksia; I, Krichen; S, Belhassen; K, Maazoun; S, Ben youssef; N, Kechiche; M, Mekki; A, Nouri

    2016-01-01

    Rectal atresia (RA) with a normal anus is a rare anomaly. We describe a case of rectal atresia in a newborn male presenting with an abdominal distension and failure of passing meconium. The rectal atresia was primarily operated by transanal route. PMID:27123404

  12. Bronchial mucous gland tumours.

    PubMed

    Spencer, H

    1979-07-27

    Tumours arising in the bronchial mucous glands closely resemble tumours arising in the mixed salivary glands. Bronchial mucous gland tumours account for less than 0.5 per cent of all lung tumours. Twenty six tumours are reviewed and they have been divided into five types, (a) adenoidcystic carcinomas, (b) muco-epidermoid tumors, (c) mixed (pleomorphic) tumors, (d) cystadenomas and (f) oxyphilic adenoma. The clinical features, and postoperative course of the patients are reviewed. Adenocystic carcinomas, arising in the bronchus frequently involve the neighbouring trachea and spread mainly by direct infiltration. Most muco-epidermoid bronchial tumours were confined to young persons, and the only malignant muco-epidermoid tumour occurred in an elderly person. The prognosis in young persons is good provided the tumours are completely excised. The two mixed bronchial tumours resembled their salivary counterparts and one subsequently behaved as a carcinoma and metastasised. Bronchial cystadenomas all proved to be benign tumours but in two cases were associated with surface papillary proliferation. The only example of an oxyphil cell adenoma was discovered at post mortem examination. The histogenesis of the tumours is considered.

  13. Perineal choristoma and atresia ani in 2 female Holstein Friesian calves.

    PubMed

    Binanti, D; Prati, I; Locatelli, V; Pravettoni, D; Sironi, G; Riccaboni, P

    2013-01-01

    Atresia ani, a congenital anomaly of the anus, can be associated with other types of malformation. Two female Holstein Friesian calves had imperforate anus, rectovaginal fistula, and perineal choristomas. In one case, the choristoma was composed of mature adipose and fibrous tissue with nephrogenic rests. In the other calf, the choristoma consisted of fragments of trabecular bone coated by cartilage and containing marrow, mixed with mature adipose and fibrous tissue, striated muscle fibers, nerves, and vessels. This combination of malformations resembles the association of anorectal malformations and perineal masses in children.

  14. Atypical Bronchial Carcinoid Masquerading as Bronchial Asthma.

    PubMed

    Rajendran, V; Iqbal; Kumar, Vinod

    2015-11-01

    A case study of 35-year-old woman with persistent breathlessness and wheezing that had been unsuccessfully treated with inhaled beta 2-agonists and steroids for about two years. Patient developed dry cough and haemoptysis, so investigated further. Spirometry demonstrated a restrictive pattern. Chest CT demonstrated well defined hyperdense lesion in right middle lobe. Biopsy taken from the mass during bronchoscopy demonstrated the picture of atypical bronchial carcinoid. In this case, due to the lack of awareness, diagnosis of carcinoid was delayed by two years. PMID:27608788

  15. Atresia of the Aortic Arch in 4-Year-Old Child: A Clinical Case Study

    PubMed Central

    Nigro Stimato, Vittoria; Didier, Dominique; Beghetti, Maurice; Tissot, Cécile

    2015-01-01

    Atresia of the aortic arch is a rare congenital heart defect with a high mortality when associated with other intracardiac defects. Cardiac magnetic resonance (CMR) provides the exact anatomy of the aortic arch and collateral circulation and is useful to diagnose-associated aortic arch anomalies. This report describes the case of a 4-year-old child with atresia of the aortic arch, referred to our institution with the diagnosis of aortic coarctation and bicuspid aortic valve. On clinical exam, the femoral pulses were not palpable and there was a significant differential blood pressure between the upper and lower limbs. The echocardiography showed a severely stenotic bicuspid aortic valve but was limited for the exact description of the aortic arch. CMR showed absence of lumen continuity between the ascending and descending aorta distal to the left subclavian artery, extending over 5 mm, with the presence of a bend in the arch and diverticulum on either side of the zone of discontinuity, suggesting the diagnosis atresia of the aortic arch rather than coarctation or interruption. The patient benefited from a successful surgical commissurotomy of the aortic valve and reconstruction of the aortic arch with a homograft. The post-operative CMR confirmed the good surgical result. This case emphasizes the utility of CMR to provide good anatomical information to establish the exact diagnosis and the operative strategy. PMID:25853109

  16. Intestinal atresia and stenosis: a review comparing its morphology.

    PubMed

    Johnson, R

    1986-03-01

    A review of the literature on intestinal atresia of domestic animal species and humans was done. The 5 types of intestinal occlusions described in human infants are atresia type 1, atresia type 2, atresia type 3, stenosis, and the "apple peel" or "Christmas tree" deformity. The intestinal defects described in domestic animal species such as the bovine, equine and porcine are similar to those of human infants. The "T-formation", an intestinal defect of the bovine resembling atresia type 3, and rectal stricture, an acquired intestinal defect of the porcine resembling stenosis, were described recently. Intestinal atresia is similar in several species and these similarities raise the questions as to whether the pathogenic mechanism and possibly etiologies of intestinal atresia are similar in these species.

  17. Multiple gastrointestinal atresias in two consecutive siblings.

    PubMed

    Gahukamble, D B; Gahukamble, L D

    2002-03-01

    Two consecutive female siblings with multiple gastrointestinal atresias are described. The history of consanguinity in the parents and the presence of extensive typical pathological lesions suggest a genetically-induced developmental fault in the alimentary tract during the early embryonic period.

  18. Functional anatomy of bronchial veins.

    PubMed

    Charan, Nirmal B; Thompson, William H; Carvalho, Paula

    2007-01-01

    The amount of bronchial arterial blood that drains into the systemic venous system is not known. Therefore, in this study we further delineated the functional anatomy of the bronchial venous system in six adult, anesthetized, and mechanically ventilated sheep. Through a left thoracotomy, the left azygos vein was dissected and the insertion of the bronchial vein into the azygos vein was identified. A pouch was created by ligating the azygos vein on either side of the insertion of the bronchial vein. A catheter was inserted into this pouch for the measurement of bronchial venous occlusion pressure and bronchial venous blood flow. An ultrasonic flow probe was placed around the common bronchial branch of the bronchoesophageal artery to monitor the bronchial arterial blood flow. Catheters were also placed into the carotid artery and the pulmonary artery. The mean bronchial blood flow was 20.6+/-4.2mlmin(-1) (mean+/-SEM) and, of this, only about 13% of the blood flow drained into the azygos vein. The mean systemic artery pressure was 72.4+/-4.1mmHg whereas the mean bronchial venous occlusion pressure was 38.1+/-2.1mmHg. The mean values for blood gas analysis were as follows: bronchial venous blood pH=7.54+/-0.02, PCO(2)=35+/-2.6, PO(2)=95+/-5.7mmHg; systemic venous blood-pH=7.43+/-0.02, PCO(2)=48+/-3.2, PO(2)=42+/-2.0mmHg; systemic arterial blood-pH=7.51+/-0.03, PCO(2)=39+/-2.1, PO(2)=169+/-9.8mmHg. We conclude that the major portion of the bronchial arterial blood flow normally drains into the pulmonary circulation and only about 13% drains into the bronchial venous system. In addition, the oxygen content of the bronchial venous blood is similar to that in the systemic arterial blood.

  19. A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis.

    PubMed

    Shimizu, Takeru; Fukuda, Taeko; Inomata, Shinichi; Satsumae, Tsuyoshi; Tanaka, Makoto

    2011-04-01

    Alveolar capillary dysplasia (ACD), which is a rare and lethal congenital pulmonary anomaly found in newborns, begins its onset or causes deterioration of the infant's condition some time after birth. Various congenital anomalies in combination with ACD have been reported, except for subglottic stenosis. Therefore, we aim to report a novel association in a case of ACD with the combination of atypical duodenal atresia and subglottic stenosis. The male infant was scheduled for duodeno-duodenostomy because a double-bubble sign was observed on a chest radiograph. He arrived at the operating theater without any symptoms. After induction of general anesthesia, although mask ventilation was performed without difficulties throughout the entire procedure, oxygen saturation values of the upper and lower extremities dissociated after several attempts of intubation. Surgery was canceled because of instability of the respiratory condition. Respiratory insufficiency worsened progressively, and the infant died at 5 days of age. An autopsy confirmed ACD and revealed cartilaginous subglottic stenosis, which had made intubation difficult. This report highlights the hazards of the onset and worsening of ACD, and the importance of thorough echocardiography before surgery when atypical duodenal atresia is suspected. Anesthesiologists should also be prepared for the difficulty of intubation.

  20. The Modified Kimura's Technique for the Treatment of Duodenal Atresia

    PubMed Central

    Zuccarello, Biagio; Spada, Antonella; Centorrino, Antonio; Turiaco, Nunzio; Chirico, Maria Rosaria; Parisi, Saveria

    2009-01-01

    Background/Purpose. Kimura's diamond-shaped-duodenoduodenostomy (DSD) is a known technique for the correction of congenital intrinsic duodenal obstruction. We present a modification of the technique and review the advantages of this new technique. Methods. From 1992 to 2006, 14 newborns were treated for duodenal atresia. We inverted the direction of the duodenal incisions: a longitudinal incision was made in the proximal duodenum while the distal was opened by transverse incision. Results. Our “inverted-diamond-shaped-duodenoduodenostomy” (i-DSD) allowed postoperative oral feeding to start on days 2 to 3, peripheral intravenous fluids discontinuity on days 3 to 8 (median values 3.6); time to achieve full oral feeds on days 8 to 12 (median values 9.4); the length of hospitalisation ranged from 10 and 14 days (median value 11.2). No complications related to the anastomosis, by Viz leakage, dehiscence, biliary stasis, or stenosis were observed. Conclusions. The i-DSD provides a safe procedure to protect the ampulla of Vater from injury and avoids any formation of a blind loop. The results show that patients who have i-DSD achieve full oral feeds in a very short time period and, consequently, the length of hospitalisation is also significantly reduced. PMID:19946416

  1. Ultrastructural Changes of the Smooth Muscle in Esophageal Atresia.

    PubMed

    Al-Shraim, Mubarak M; Eid, Refaat A; Musalam, Adel Osman; Radad, Khaled; Ibrahim, Ashraf H M; Malki, Talal A

    2015-01-01

    Esophageal atresia (EA) with or without tracheo-esophageal fistula (TEF) is a relatively rare congenital anomaly. Despite the advances in the management techniques and neonatal intensive care, esophageal dysmotility remains a very common problem following EA/TEF repair. Our current study aimed to describe the most significant ultrastructural changes of the smooth muscle cells (SMCs) trying to highlight some of the underlying mechanisms of esophageal dysmotility following EA/TEF repair. Twenty-three biopsies were obtained from the tip of the lower esophageal pouch (LEP) of 23 patients during primary repair of EA/TEF. Light microscopic examination was performed with hematoxylin and eosin (HE), and Van Gieson's stains. Ultrastructural examination was done using transmission electron microscopy (TEM). Histopathological examination showed distortion of smooth muscle layer and deposition of an abundant amount of fibrous tissue in-between smooth muscles. Using TEM, SMCs exhibited loss of the cell-to-cell adhesion, mitochondrial vacuolation, formation of myelin figures, and apoptotic fragmentation. There were also plasmalemmal projections and formation of ghost bodies. Interestingly, SMCs were found extending pseudopodia-like projections around adjacent collagen fibers. Engulfed collagen fibers by SMCs underwent degradation within autophagic vacuoles. Degeneration of SMCs and deposition of abundant extracellular collagen fibers are prominent pathological changes in LEP of EA/TEF. These changes might contribute to the pathogenesis of esophageal dysmotility in patients who have survived EA/TEF. PMID:26548437

  2. Prenatal Intestinal Obstruction Affects the Myenteric Plexus and Causes Functional Bowel Impairment in Fetal Rat Experimental Model of Intestinal Atresia

    PubMed Central

    Khen-Dunlop, Naziha; Sarnacki, Sabine; Victor, Anais; Grosos, Celine; Menard, Sandrine; Soret, Rodolphe; Goudin, Nicolas; Pousset, Maud; Sauvat, Frederique; Revillon, Yann; Cerf-Bensussan, Nadine; Neunlist, Michel

    2013-01-01

    Background Intestinal atresia is a rare congenital disorder with an incidence of 3/10 000 birth. About one-third of patients have severe intestinal dysfunction after surgical repair. We examined whether prenatal gastrointestinal obstruction might effect on the myenteric plexus and account for subsequent functional disorders. Methodology/Principal Findings We studied a rat model of surgically induced antenatal atresia, comparing intestinal samples from both sides of the obstruction and with healthy rat pups controls. Whole-mount preparations of the myenteric plexus were stained for choline acetyltransferase (ChAT) and nitric oxide synthase (nNOS). Quantitative reverse transcription PCR was used to analyze mRNAs for inflammatory markers. Functional motility and permeability analyses were performed in vitro. Phenotypic studies were also performed in 8 newborns with intestinal atresia. In the experimental model, the proportion of nNOS-immunoreactive neurons was similar in proximal and distal segments (6.7±4.6% vs 5.6±4.2%, p = 0.25), but proximal segments contained a higher proportion of ChAT-immunoreactive neurons (13.2±6.2% vs 7.5±4.3%, p = 0.005). Phenotypic changes were associated with a 100-fold lower concentration-dependent contractile response to carbachol and a 1.6-fold higher EFS-induced contractile response in proximal compared to distal segments. Transcellular (p = 0.002) but not paracellular permeability was increased. Comparison with controls showed that modifications involved not only proximal but also distal segments. Phenotypic studies in human atresia confirmed the changes in ChAT expression. Conclusion Experimental atresia in fetal rat induces differential myenteric plexus phenotypical as well as functional changes (motility and permeability) between the two sides of the obstruction. Delineating these changes might help to identify markers predictive of motility dysfunction and to define guidelines for post-surgical care. PMID:23667464

  3. A Rare Case of Jejunal Atresia Due to Intrauterine Intussusception.

    PubMed

    Joshi, Sanjeev B; Kinhal, Vidyadhar; Desai, Mahesh; Tilak; Choudhari, Fazal Ur Rehman

    2015-09-01

    Intestinal atresia is generally caused by intrauterine vascular obstructions involving mesenteric vessels. Intrauterine intussusceptions (IUI) are one of these disruptive events. Intestinal intussusceptions affects children commonly between 3 months and 3 years of age, but it rarely affects in intrauterine life. The relationship between intrauterine intussusception and intestinal atresia has been demonstrated by few cases in literature, suggesting intrauterine intussusception as a rare cause of intestinal atresia. We report a 7-day-old full term neonate presenting with intrauterine intussusceptions (jejuno-jejunal) resulting in jejunal atresia. PMID:26500958

  4. Independent bilateral primary bronchial carcinomas

    PubMed Central

    Chaudhuri, M. Ray

    1971-01-01

    Independent bilateral primary bronchial carcinomas are not common. Since Beyreuther's description in 1924, 16 well-documented cases of independent primary bronchial carcinomas of different histology have been described. From 1965 to 1970, eight cases were seen at the London Chest Hospital. In order to make the diagnosis of a second primary bronchial carcinoma, each tumour should be malignant and neither should be a metastasis from the other. To meet this last criterion, the histopathological features of the two tumours must be different. Many cases have been described in the literature as double primary bronchial carcinomas where the second primary had the same histological features as the first. Images PMID:4327711

  5. [Bronchial mucoepidermoid carcinoma].

    PubMed

    Bregante, J I; Rituerto, B; Font de Mora, F; Alonso, F; Andreu, M J; Figuerola, J; Mulet, J F

    1998-07-01

    We submit the case of a child afflicted with a mucoepidermoid bronchial tumor. The patient is a boy, aged seven, who after undergoing antibiotic treatment for six weeks because of a fever and atelectasia-condensation in the right lower lobe showed no signs of clinical improvement and was sent to our department to undergo further study and treatment. A bronchoscopy performed shows a polypoid mass that partially blocks the main bronchial tube a few milimiters under the access to the right upper lobe. A biopsy is carried out and the anatomopathological test shows there is a low degree epidermoid carcinoma. We decide to perform a lobectomy which for the tumor location and the lung condition has to be medium and lower right. We proceed to remove the adenopaty of hilium not affected by the tumor. The postoperative period develops without incidents. A check-up bronchoscopy performed three months later shows two polypoid masses in the right bronchial tube which, once a biopsy is performed, proved to be granulation tissue. Twelve months after undergoing surgery, the patient's condition is good, there is no evidence of tumor relapse and the breathing capacity is adequate, though there is an obstructive restrictive pattern in the espirometry. Even taking into consideration that lung tumors are extremely unusual, the epidermoid carcinoma is the one which most frequently occurs. The tumor's low malignancy is a sign that points to a good prognosis. Performing conservative surgery by means of bronchoplasty should be taken into account so as to keep the sequelae on the lung condition to a minimum, even though in this case the tumor location made it impossible. PMID:12602035

  6. Surgical management of tricuspid atresia and anomalous left brachiocephalic vein.

    PubMed

    Koutlas, T C; Wernovsky, G; Slack, M C; Weinberg, P M; Spray, T L

    1998-06-01

    An anomalous left brachiocephalic vein is an uncommon systemic venous anomaly, which usually has no clinical significance. We describe a case of tricuspid atresia with such an anomalous left brachiocephalic vein. The presence of this unusual venous anomaly had a number of implications in the surgical management of the tricuspid atresia. PMID:9647100

  7. Associated congenital anomalies among cases with Down syndrome.

    PubMed

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

    2015-12-01

    Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to

  8. Associated congenital anomalies among cases with Down syndrome.

    PubMed

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

    2015-12-01

    Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to

  9. Treatment of congenital pulmonary lymphangiectasia using ethiodized oil lymphangiography.

    PubMed

    Gray, M; Kovatis, K Z; Stuart, T; Enlow, E; Itkin, M; Keller, M S; French, H M

    2014-09-01

    Historically, congenital pulmonary lymphangiectasia (CPL) has had poor treatment outcomes despite aggressive therapy. There are recent reports of ethiodized oil (Lipiodol) lymphangiography successfully treating lymphatic leakage in adults. In this report, we describe two infants with CPL complicated by chylothoraces successfully treated by instillation of ethiodized oil into the lymphatic system. Congenital atresia of the thoracic duct was demonstrated on the lymphangiogram in both patients before treatment. Both patients have shown good short-term outcomes without supplemental oxygen or fat restricted diets at 9 months of age. Ethiodized oil lymphangiography represents a new treatment modality for some patients with CPL.

  10. Management of patients with combined tracheoesophageal fistula, esophageal atresia, and duodenal atresia

    PubMed Central

    Nabzdyk, Christoph S.; Chiu, Bill; Jackson, Carl-Christian; Chwals, Walter J.

    2014-01-01

    INTRODUCTION Patients with combined esophageal atresia (EA), tracheoesophageal fistula (TEF), and duodenal atresia (DA) pose a rare management challenge. PRESENTATION OF CASE Three patients with combined esophageal atresia (EA), tracheoesophageal fistula (TEF), and duodenal atresia safely underwent a staged approach inserting a gastrostomy tube and repairing the EA/TEF first followed by a duodenoduodenostomy within one week. None of the patients suffered significant pre- or post-operative complications and our follow-up data (between 12 and 24 months) suggest that all patients eventually outgrow their reflux and respiratory symptoms. DISCUSSION While some authors support repair of all defects in one surgery, we recommend a staged approach. A gastrostomy tube is placed first for gastric decompression before TEF ligation and EA repair can be safely undertaken. The repair of the DA can then be performed within 3–7 days under controlled circumstances. CONCLUSION A staged approach of inserting a gastrostomy tube and repairing the EA/TEF first followed by a duodenoduodenostomy within one week resulted in excellent outcomes. PMID:25460495

  11. Jejunal atresia with absent mesentery and a helical ileum.

    PubMed

    Zerella, J T; Martin, L W

    1976-11-01

    Of 59 infants with jejunoileal atresia, seven presented with absence of mesentery, the main superior mesenteric artery ceasing to exist beyond the origin of the right colic or ileocolic artery, and a helical ileum. This distinctive form of jejunal atresia has been recognized with increasing frequency in recent years. Distal to the atresia, the small bowel receives its blood supply retrograde from an artery derived from the ileocolic or right colic arcades, and the ileum coils around its nutrient artery in an "apple peel" or "Christmas tree" deformity. The first three patients in this report died. The lastion, but they recovered as their malabsorption gradually disappeared. The treatment includes resection of the dilated bowel, as in other atresias. Resection of part of the distal bowel may be required for additional atresias or for poor vascularity with questionable viability. Postoperative malabsorption generally requires intravenous hyperalimentation.

  12. Colonic atresia associated with annular pancreas: An extremely rare and previously unreported association

    PubMed Central

    Halder, Pankaj; Kumar, Rajarshi; Mukhopadhyay, Madhumita; Mandal, Kartik Chandra; Mukhopadhyay, Biswanath

    2015-01-01

    Colonic atresia is the rarest entity among the all intestinal atresias and may be associated with anterior abdominal wall defect, small intestinal atresia, Hirschsprung's disease, and other anomalies. Here, we are reporting a case of colonic atresia associated with annular pancreas, which has not been reported previously to the best of our knowledge. PMID:26166992

  13. Use of high kilovoltage filtered beam radiographs for detection of bronchial situs in infants and young children.

    PubMed Central

    Deanfield, J E; Leanage, R; Stroobant, J; Chrispin, A R; Taylor, J F; Macartney, F J

    1980-01-01

    Determination of atrial situs is of cardinal importance in the analysis of complex congenital heart lesions, and is best predicted from bronchial situs. Previous methods for assessing bronchial morphology, however, are unsuited to the very young patient. To assess bronchial morphology, 100 consecutive patients under 18 months of age (medium 57.5 days) with suspected congenital heart disease were studied by high kilovoltage filtered beam radiographs, before cardiac catheterisation. This low radiation dose technique clearly defined bronchial anatomy in 95 patients. The lengths of the left and right main bronchi were compared and 10 cases (10%) had a ratio less than 1.5 suggesting bronchial isomerism. Discriminant function analysis based on tracheal width and bronchial length enabled clear distinction of right from left bronchi. Four patients had bilateral right and six had bilateral left bronchi. Four of these 10 cases died and had necropsy confirmation of the radiological diagnosis. Practical prediction about cardiac anatomy, particularly the systemic and pulmonary venous return, may be made when bronchial morphology is known. Images PMID:7437200

  14. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed.

  15. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-03-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed. PMID:27607320

  16. Fetal Heterotaxy with Tricuspid Atresia, Pulmonary Atresia, and Isomerism of the Right Atrial Appendages at 22 Weeks

    PubMed Central

    Solomon, Julia E.; Stock, John H.; Richardson, Randy R.; Silverman, Norman H.

    2013-01-01

    We report the accurate prenatal diagnosis at 22 weeks gestation of right atrial isomerism in association with tricuspid atresia. Several distinctive sonographic features of isomerism of the right atrial appendages were present in this fetus: complex cardiac abnormality, ventriculoarterial discordance, juxtaposition of the aorta and the inferior vena cava to the right side, pulmonary atresia, and anomalous pulmonary venous return to the morphological right atrium. Tricuspid atresia, which is an extremely rare lesion within heterotaxy spectrum disorders, was present. Postnatal investigations confirmed all prenatally diagnosed abnormalities, with additional findings of pulmonary atresia with discontinuous pulmonary arteries and bilateral arterial ducts, asplenia, and bilateral eparterial bronchi. To our knowledge, tricuspid atresia in the setting of isomerism of the right atrial appendages has not previously been diagnosed or reported prenatally. Because of the complexity of cardiac lesions that may be present in cases of atrial isomerism, these disorders should be considered even if sonographic findings are uncommon or atypical. PMID:24147244

  17. DNA adducts in bronchial biopsies.

    PubMed

    Dunn, B P; Vedal, S; San, R H; Kwan, W F; Nelems, B; Enarson, D A; Stich, H F

    1991-06-19

    To investigate the feasibility of measuring DNA-carcinogen adducts in the lungs of non-surgical patients, endobronchial biopsies were obtained from 78 patients undergoing routine diagnostic bronchoscopy. Lung cancer was present in 37 (47%) of the patients. DNA was isolated from the tissues and analyzed by HPLC- or nuclease-PI-enriched 32P-postlabelling, using procedures selective for aromatic adducts. Chromatograms from all 28 current smokers showed a distinctive diagonal adduct zone which was present in only 24 of 40 ex-smokers and 4 of 10 lifetime non-smokers. Adduct levels and chromatographic patterns were similar in bronchial tissue from different lobes of the lung, in bronchial and alveolar tissue, and in tumor and non-tumor bronchial tissue taken from the same subject. Bronchial DNA adduct levels were strongly associated with cigarette smoking status and dropped rapidly after smoking ceased. Higher levels of DNA adducts seen in the lung-cancer patients were mainly due to cigarette smoking. Frequent alcohol intake was the only dietary factor associated with higher levels of bronchial DNA adducts. We conclude that the level of bronchial DNA adducts is strongly associated with cigarette-smoking history and with alcohol intake, but is not associated with lung cancer independently from its relation to smoking. The results indicate the feasibility of using 32P-postlabelling to detect and quantitate genetic damage in bronchial biopsy specimens.

  18. [Recurrent tracheoesophageal fistula in type III esophageal atresia. Diagnosis and treatment are not easy].

    PubMed

    Lepeytre, C; Roquelaure, B; de Lagausie, P; Merrot, T; Dubus, J-C

    2014-07-01

    Recurrent tracheoesophageal fistula (TEF) is possible after repair of congenital esophageal atresia. The frequency of recurrent TEF is observed in about 10% of the cases. Within a cohort of 67 children with type III esophageal atresia repaired between 1998 and 2009, we aimed to identify the number of children with recurrent TEF, the risk factors for this condition, and the treatment proposed. The sex ratio was 1.7. Surgery was performed between 4 and 36 hours of life. Five children (7.5%) had a recurrent TEF, usually during the first 3 months, revealed by respiratory symptoms related to feeding in some cases. We noted that recurrent TEF was more frequent with anastomotic leakage (P=0.09) or postsurgical pneumothorax (P<0.01). The diagnosis was made in four cases out of five by a methylene blue test performed during a tracheobronchial endoscopy. Surgical treatment was noted in four children, with three postsurgical secondary effects. One child was treated by endoscopy and an esophageal clip. With a median follow-up of 52 months, no recurrence was noted. The recurrence of TEF may be linked to postsurgical events. Diagnosis is not easy and treatment is not clearly codified. Endoscopic treatment may be an advantageous option to surgery, likely with less morbidity.

  19. Congenital malformations of the external and middle ear: high-resolution CT findings of surgical import

    SciTech Connect

    Swartz, J.D.; Faerber, E.N.

    1985-03-01

    The external auditory canal, middle ear, and bulk of the ossicular chain develop from the first branchial groove, first and second branchial arches, and first pharyngeal pouch. Embryologic development of these structures is complex and only rarely are two anomalies identical. This study includes 11 cases of unilateral external auditory canal atresia and two cases of bilateral atresia. Eight cases (four bilateral) of isolated congenital ossicular anomalies are also included. Emphasis is placed on findings of surgical import. All patients were studied with computed tomography only, because it was believed that the bony and soft-tissue detail achieved is superior to that with conventional multidirectional tomography.

  20. Structural changes occurring during atresia in sheep ovarian follicles.

    PubMed

    Hay, M R; Cran, D G; Moor, R M

    1976-07-01

    The structural changes that characterize primary, secondary and tertiary atresia in sheep Graafian follicles have been studied by means of histological, histochemical and ultrastructural techniques. In primary atresia vacuoles representing swollen endoplasmic reticulum are prominent along the antral border together with disorganized granulosa cells containing pyknotic nuclei. Phagocytic cells, which increase in number as atresia progresses, were seen within the membrana granulosa and are considered to be transformed granulosa cells. Even in follicles classified as nonatretic, a few antral vacuoles and occasional pyknotic nuclei are present. During secondary atresia there is a large increase in the number of cells with pyknotic nuclei; many of these nuclei had been extruded and had fused to form the characteristic Feulgen-positive atretic bodies found along the edge of the antral cavity. These bodies usually have a diameter of up to 15 mum but occasionally reached as much as 400 mum. A second area of degeneration is frequently present in the membrana granulosa, two or three cell layers from the basal lamina, and it is at this level that exfoliation of granulosa cells occurs in tertiary atresia. In contrast to the membrana granulosa, there are during secondary atresia, only slight indications of degeneration in the cumulus. In tertiary atresia the membrana granulosa is highly disorganized; the atretic bodies are often fewer in number than at earlier stages. The basal lamina remains essentially intact. It is at this stage that the first clear signs of degeneration occur in the theca interna. Despite some disintegration of the cumulus, the integrity of the oocyte is maintained and its nucleus remains vesicular. Changes in the thecal microcirculation may plan a key role in atresia: adjacent to the basal lamina of non-atretic follicles, there is a well-developed capillary network which is significantly reduced as atresia progresses. PMID:991198

  1. Chyluria associated with bronchial carcinoma

    PubMed Central

    Morice, A. H.; Wood, J. R.

    1981-01-01

    Chylous pleural effusion, though not chyluria, is a recognized association of carcinoma of the bronchus. A case of chyluria associated with squamous bronchial carcinoma is reported. Chyluria in this patient was successfully treated by dietary modification. PMID:7329888

  2. Congenital Myopathy

    MedlinePlus

    ... arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core ... difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare ...

  3. Congenital syphilis

    MedlinePlus

    Congenital lues; Fetal syphilis ... which is passed from mother to child during fetal development or at birth. Nearly half of all ... Saunders; 2014:chap 143. Duff P. Maternal and fetal infections. In: Creasy RK, Resnik R, Iams JD, ...

  4. Congenital rubella

    MedlinePlus

    ... mother is infected with the virus that causes German measles. Congenital means the condition is present at ... Gershon AA. Rubella virus (German measles). In: Mandell GL, Bennett JE, ... of Infectious Diseases . 8th ed. Philadelphia, PA: Elsevier ...

  5. Congenital myopathies.

    PubMed

    Romero, Norma Beatriz; Clarke, Nigel F

    2013-01-01

    Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor development are common in most forms. As a result, the diagnosis of a subtype of congenital myopathy is largely based on the presence of specific structural abnormalities in the skeletal muscle detected by enzyme-histochemistry and electron microscopy studies. During the last decades there have been significant advances in the identification of the genetic basis of most congenital myopathies. However, there is significant genetic heterogeneity within the main groups of congenital myopathies, and mutations in one particular gene may also cause diverse clinical and morphological phenotypes. Thus, the nosography and nosology in this field is still evolving. PMID:23622357

  6. [Congenital analgesia].

    PubMed

    Accornero, N; Bini, G; Cruccu, G

    1980-01-01

    The case of a 12 years old boy with a congenital anaesthesia covering all cutaneous and visceral districts is reported. There were no other neurological abnormalities apart a light mental retardation and loss of axon reflex after intradermal injection of hystamine. Notwithstanding this last finding a diagnosis of congenital indifference to pain was made. The differential diagnosis between indifference and insensitivity to pain is discussed. PMID:6162189

  7. Thoracoscopic esophageal atresia repair made easy. An applicable trick.

    PubMed

    Hiradfar, Mehran; Shojaeian, Reza; Gharavi Fard, Mohammad; Joodi, Marjan; Sabzevari, Alireza; Nazarzade, Reza

    2013-03-01

    Thoracoscopic repair of esophageal atresia is becoming more popular but technical difficulties in handsewn anastomosis still remain challenging. This article presents an easy and applicable maneuver by passing the trans-esophageal tube before starting to suture in order to minimize the gap, reduce the tension over primary sutures and provide a better visualization of posterolateral parts of the anastomosis in thoracoscopic esophageal atresia repair. Using this maneuver makes tying easier and minimizes grasping and crushing damages to the anastomotic site.

  8. Atresia revisited: two basic patterns of atresia of bovine antral follicles.

    PubMed

    Irving-Rodgers, H F; van Wezel, I L; Mussard, M L; Kinder, J E; Rodgers, R J

    2001-11-01

    Our observations of bovine follicles indicated that the original histological classifications of atresia were inaccurate. A detailed histological, ultrastructural and immunohistochemical study of antral follicles from bovine ovaries collected from an abattoir and from animals whose large follicles had been monitored by ultrasonography was conducted to investigate this further. Nidogen and CD68 were immunolocalized to observe the follicular basal lamina and macrophages, respectively. In randomly collected ovaries, approximately one quarter of all antral follicles were undergoing antral atresia, as designated in this study. Antral atresia was characterized by early destruction of the layers of the membrana granulosa closest to the antrum, whereas the most basal cells remained intact. Numerous pyknotic nuclei were observed in the most antral layers and in the antrum close to the membrana granulosa. This is the classic description of atretic follicles and was observed at all sizes of follicle development and almost universally in large follicles (> 5 mm in diameter), including dominant follicles. Basal atretic follicles, as designated in this study, were almost as prevalent as the antral atretic follicles, and were characterized by initial destruction of the most basal layer of granulosa cells, whereas the cells in the most antral layers remained associated with each other and were predominantly healthy. Pyknotic nuclei and the nuclei of dying basal cells budded into apoptotic bodies were observed rarely. The basal lamina of basal atretic follicles was often breached by macrophages, which were phagocytosing dying basal granulosa cells. The theca was characterized by an increased deposition of collagen, and the cells were orientated randomly, rather than lying parallel to the membrana granulosa as in healthy follicles. Basal atresia occurred in small (< 5 mm in diameter) follicles only. Importantly, these basal atretic follicles were originally identified incorrectly in

  9. Difficult esophageal atresia: trick and treat.

    PubMed

    Conforti, Andrea; Morini, Francesco; Bagolan, Pietro

    2014-10-01

    Although most patients with esophageal atresia (EA) and tracheo-esophageal fistula (TEF) may benefit from "standard" management, which is deferred emergency surgery, some may present unexpected elements that change this paradigm. Birth weight, associated anomalies, and long gap can influence the therapeutic schedule of the patients with EA/TEF and can make their treatment tricky. As a consequence, detailed information on these aspects gives the power to develop a decision-making process as correct as possible. In this article, we will review the most important factors influencing the treatment of patients with EA/TEF and will share our experience on the diagnostic and therapeutic tips that may provide pivotal help in the management of such patients.

  10. Tricuspid atresia: analysis of coronary artery distribution and ventricular morphology.

    PubMed Central

    Deanfield, J E; Tommasini, G; Anderson, R H; Macartney, F J

    1982-01-01

    There is still disagreement concerning the precise nature of the anterior ventricular chamber in "tricuspid atresia". Some argue that it is a right ventricle, while our own previous studies have suggested it is comparable to the outlet chamber seen in classical "single ventricle". We have compared the morphology of the anterior ventricular chambers in 48 examples of tricuspid atresia (absent right atrioventricular connection), 24 hearts with double inlet to the left ventricular chamber, and 15 hearts with pulmonary atresia and intact ventricular septum. Since there is further disagreement concerning the nature of the coronary artery which delimits the posterior extent of the ventricular septum in these hearts, we analysed the position of this vessel relative to external reference points on the atrioventricular junction. No significant difference was found with respect to the morphometry of hearts with tricuspid atresia (absent right atrioventricular connection) and those with double inlet. In both groups, however, significant differences were shown between hearts with ventriculoarterial concordance and discordance. Coronary artery disposition was the same in both groups and different from that found in hearts with pulmonary atresia and intact septum. We conclude that the ventricular morphology is comparable in hearts with tricuspid atresia (absent right atrioventricular connection) and those with double inlet to a left ventricular chamber. The lesions are distinguishable by their atrioventricular connection which is nevertheless univentricular in both. Images PMID:7138712

  11. Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature.

    PubMed

    Bağci, Soyhan; Müller, Andreas; Franz, Axel; Heydweiller, Andreas; Berg, Christoph; Nöthen, Markus M; Bartmann, Peter; Reutter, Heiko

    2010-01-01

    Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also present a review of the literature on non-urinary tract malformations in females with 47,XXX. We conclude that prenatal identification of the 47,XXX karyotype is an indication for detailed fetal ultrasonography which should include examination of multiple organ systems. Such prenatal screening for possible associated congenital malformations should help to ensure optimal perinatal clinical management of 47,XXX cases.

  12. 21 CFR 868.5720 - Bronchial tube.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Bronchial tube. 868.5720 Section 868.5720 Food and... ANESTHESIOLOGY DEVICES Therapeutic Devices § 868.5720 Bronchial tube. (a) Identification. A bronchial tube is a... leading directly to the lung) in order to isolate a portion of lung distal to the tube. (b)...

  13. 21 CFR 868.5720 - Bronchial tube.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Bronchial tube. 868.5720 Section 868.5720 Food and... ANESTHESIOLOGY DEVICES Therapeutic Devices § 868.5720 Bronchial tube. (a) Identification. A bronchial tube is a... leading directly to the lung) in order to isolate a portion of lung distal to the tube. (b)...

  14. 21 CFR 868.5720 - Bronchial tube.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Bronchial tube. 868.5720 Section 868.5720 Food and... ANESTHESIOLOGY DEVICES Therapeutic Devices § 868.5720 Bronchial tube. (a) Identification. A bronchial tube is a... leading directly to the lung) in order to isolate a portion of lung distal to the tube. (b)...

  15. 21 CFR 868.5720 - Bronchial tube.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Bronchial tube. 868.5720 Section 868.5720 Food and... ANESTHESIOLOGY DEVICES Therapeutic Devices § 868.5720 Bronchial tube. (a) Identification. A bronchial tube is a... leading directly to the lung) in order to isolate a portion of lung distal to the tube. (b)...

  16. 21 CFR 868.5720 - Bronchial tube.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Bronchial tube. 868.5720 Section 868.5720 Food and... ANESTHESIOLOGY DEVICES Therapeutic Devices § 868.5720 Bronchial tube. (a) Identification. A bronchial tube is a... leading directly to the lung) in order to isolate a portion of lung distal to the tube. (b)...

  17. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

    Congenital torticollis is a very common postural deformity, characterized by a more or less severe retraction of sternocleidomastoid muscle. Any treatment, else that "good sense" counsels given to the parents, is indicated. The evolution is spontaneously favorable in the majority of cases before the age of one year old. The elimination of differential diagnosis (vertebral and/or neurological malformations, ocular, tumor) is the key-point. Screening of congenital hip dislocation is mandatory because the physiopathology is the same in both diseases. A remaining torticolis after 18 months of age may be an indication to sternocleidomastoid muscle lengthening.

  18. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  19. Congenital amusias.

    PubMed

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." PMID:25726292

  20. [Tricuspid atresia. Clinical course in 120 children].

    PubMed

    Rosado-Buzzo, A A; Santamaría-Díaz, H; Gómez-Gómez, M; Alva-Espinosa, C; Maulen-Radovan, X; Palacios-Macedo, X

    1987-01-01

    We describe the clinical course of 120 children with tricuspid atresia (TA) attended in the Hospital de Cardiología y Neumología, "Dr. Luis Méndez", del Centro Médico Nacional. There were 61 males and 59 females. The age of presentation was in 79 newborn babies, seventeen between one and six months old, 20 between six and 24 months old, and four with two or more years old. The clinical picture was hypoxic spells in 89% and congestive heart failure in the others. The chest film showed cardiomegaly in 85%, with diminished pulmonary flow in 48%, increased flow in 27.5%, and normal in 9%. The electrocardiogram with superior left axis deviation in 94%, right atrial hypertrophy in 58%, left atrial hypertrophy in 47.5% and left ventricular hypertrophy in 96%. TA was classified as type I in 103 children, type Ic in 70, Ib in 27 and Ia in six, and type II in seventeen children, with eight IIc, six IIb and three IIa. In 44 the management was medical, 63 underwent systemic-pulmonary anastomosis, 37 of them with Blalock-Taussig shunt and Fontan procedure in thirteen children. There were 21 deaths. This survey is compared with the literature and from this point we make management recommendations.

  1. Incidence of hepatotropic viruses in biliary atresia.

    PubMed

    Rauschenfels, Stefan; Krassmann, Miriam; Al-Masri, Ahmed N; Verhagen, Willem; Leonhardt, Johannes; Kuebler, Joachim F; Petersen, Claus

    2009-04-01

    Biliary atresia (BA) is the most frequent indication for paediatric liver transplantation. We tested the hypothesis of a viral aetiology of this disease by screening liver samples of a large number of BA patients for the common human hepatotropic viruses. Moreover, we correlated our findings to the expression of Mx protein, which has been shown to be significantly up-regulated during viral infections. Seventy-four liver biopsies (taken during Kasai portoenterostomy) were tested by polymerase chain reaction (PCR) for DNA viruses (herpes simplex virus [HSV], Epstein-Barr virus [EBV], varicella zoster virus [VZV], cytomegalovirus [CMV], adenovirus, parvovirus B19 and polyoma BK) and RNA viruses (enteroviruses, rotavirus and reovirus 3). Mx protein expression was assessed by immunohistochemistry. Virus DNA/RNA was found in less than half of the biopsies (8/74 CMV, 1/74 adenovirus; 21/64 reovirus, 1/64 enterovirus). A limited number presented with double infection. Patients that had detectable viral RNA/DNA in their liver biopsies were significantly older than virus-free patients (P = 0.037). The majority (54/59) of the liver biopsies showed expression of Mx proteins in hepatocytes, bile ducts and epithelium. Our data suggest that the known hepatotropic viruses do not play a major role in the aetiology and progression of BA. Their incidence appears to be, rather, a secondary phenomenon. Nonetheless, the inflammatory response in the livers of BA patients mimics that observed during viral infections.

  2. Biliary atresia: Clinical advances and perspectives.

    PubMed

    Nizery, Laure; Chardot, Christophe; Sissaoui, Samira; Capito, Carmen; Henrion-Caude, Alexandra; Debray, Dominique; Girard, Muriel

    2016-06-01

    Biliary atresia (BA) is a rare and severe inflammatory and obliterative cholangiopathy that affects both extra- and intrahepatic bile ducts. BA symptoms occur shortly after birth with jaundice, pale stools and dark urines. The prognosis of BA has dramatically changed in the last decades: before the Kasai operation most BA patients died, while nowadays with the sequential treatment with Kasai operation±liver transplantation BA patient survival is close to 90%. Early diagnosis is very important since the chances of success of the Kasai procedure decrease with time. The causes of BA remain actually unknown but several mechanisms including genetic and immune dysregulation may probably lead to the obliterative cholangiopathy. Current research focuses on the identification of blood or liver factors linked to the pathogenesis of BA that could become therapeutic targets and avoid the need for liver transplantation. No similar disease leading to total obstruction of the biliary tree exists in older children or adults. But understanding the physiopathology of BA may highlight the mechanisms of other destructive cholangiopathies, such as sclerosing cholangitis. PMID:26775892

  3. Transposition of the great arteries, pulmonary atresia, and multiple ventricular septal defects associated with multiple cardiac rhabdomyomas in a case of tuberous sclerosis.

    PubMed

    Jiang, Z Y; Pircova, A; Sekarski, N; Hack, I; Laurini, R; Janzer, R; Payot, M

    2000-01-01

    Multiple cardiac rhabdomyomas are frequently associated with tuberous sclerosis. However, very few cardiac malformations have been described with tuberous sclerosis. We report an unusual case of tuberous sclerosis with cerebral and renal lesions associated with dextrotransposition of the great arteries, pulmonary atresia, patent ductus arteriosus, multiple ventricular septal defects, and parachute mitral valve deformity. After reviewing other cases of congenital heart diseases associated with tuberous sclerosis, emphasis is made on the potential influence of multiple rhabdomyomas developing very early during fetal life on final cardiac structures.

  4. Management of Congenital Tracheal Stenosis.

    PubMed

    Hofferberth, Sophie C; Watters, Karen; Rahbar, Reza; Fynn-Thompson, Francis

    2015-09-01

    Congenital tracheal stenosis (CTS) is a serious and rare condition. In most cases, stenotic lesions are composed of complete tracheal rings of cartilage.The severity of symptoms correlates with the length of affected trachea, the presence of concomitant respiratory conditions, degree of luminal narrowing,and any bronchial involvement. Critically, CTS is a disorder that can lead to life-threatening respiratory insufficiency in children. Thus, it is a clinical entity that demands timely diagnosis and treatment. This review will firstly discuss the anatomy and pathophysiology of CTS and outline the various clinical presentations associated with the disorder. In addition, methods of diagnosis and treatment strategies will be reviewed, with a focus on contemporary surgical techniques. Finally, postoperative care of patients with CTS will be reviewed, and a contemporary multidisciplinary management approach will be presented.

  5. Retrospective Study of a Series of Choanal Atresia Patients

    PubMed Central

    Manica, Denise; Schweiger, Cláudia; Netto, Cátia C Saleh; Kuhl, Gabriel

    2013-01-01

    Introduction Although it has been more than 250 years since the first description of choanal atresia (CA), there are still doubts about this abnormality. The differences between unilateral and bilateral forms are seldom discussed. Objectives Aggregate data from patients diagnosed with CA, grouping patients with unilateral and bilateral forms. Methods Retrospective study. Results Eighteen patients were included: 12 (66.6%) presented bilateral atresia, of which 77.8% were mixed bony-membranous type and 22.2% were pure bony type. From the 12 patients with bilateral atresia, 10 presented related malformations, 3 of whom had CHARGE syndrome (coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities). From the remaining 6 patients with unilateral atresia, only 2 showed malformations, 1 renal and 1 cardiac. All patients with unilateral atresia needed only 1 surgical procedure, and patients with the bilateral form needed a median of 2.85 interventions (p = 0.003). The median age of surgical procedure in the unilateral group was 6 years, ranging from 6 months to 18 years, and in the bilateral group was 25 days, ranging from 6 days to 6 years (p = 0.003). The median interval between diagnosis and surgery was 9 months in the unilateral group, ranging from 1 month to 18 years, and in the bilateral group was 1 day, ranging from 1 day to 2 months (p = 0.001). Discussion and Conclusions Success rates with the endoscopic approach vary from 62 to 100%. Nonetheless, most of these reports present results without considering the number of compromised sides. In our opinion, unilateral and bilateral cases involve distinct patients (taking into account the related malformations), have diverging clinical presentations, and show discrepant restenosis rates and therefore could be considered in different groups of analysis. PMID:25992054

  6. Atresia of the right atrioventricular orifice with atrioventricular concordance.

    PubMed Central

    Dickinson, D F; Wilkinson, J L; Smith, A; Anderson, R H

    1979-01-01

    Three hearts are described in which a fibrous membrane was interposed between the right atrium and a formed but hypoplastic right ventricle, which possessed recognisable inlet, trabecular, and infundibular components. In these hearts the distribution of the conducting tissue was as expected for concordant atrioventricular connections, and contrasts with that seen in the classical type of 'tricuspid atresia'. The distinctive morphological and histological features of these specimens lend further support to our view that the majority of cases of atresia of the right atrioventricular orifice should be regarded as coming within the designation of 'the univentricular heart'. Images PMID:475940

  7. Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: case report.

    PubMed

    Dinlen, N; Zenciroğlu, A; Dilli, D; Aydin, B; Beken, S; Okumuş, N

    2014-01-01

    Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development with an incidence of I in 40,000 to in 70,000 live births. It is characterized by abnormalities of the pinnae which are frequently associated with atresia of the external auditory canals and anomalies of the middle ear ossicles. Rarely congenital heart defects can be present. Prenatal paroxetine exposure may enhance the risks of major malformation, particularly cardiac defects. This article reports a newborn, whose mother used paroxetine during pregnancy, presenting with multiple congenital heart defects associated to typical physical characteristics of Treacher Collins syndrome.

  8. Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations.

    PubMed

    Broome, M; Vial, Y; Jacquemont, S; Sergi, C; Kamnasaran, D; Giannoni, E

    2016-02-01

    Syngnathia is an extremely rare condition involving congenital fusion of the maxilla with the mandible. Clinical presentations vary from simple mucosal bands (synechiae) to complete bony fusion (synostosis). Most cases are unilateral incomplete fusions. We report the case of a severely growth-retarded newborn infant with complete synostosis of the mandible with the maxilla and the zygoma associated with cleft palate, choanal atresia, deafness, delayed cerebral white matter development, and genital and limb malformations. Extensive genetic analysis did not reveal any mutations. This association of multiple congenital malformations may represent an entity distinct from previously described syndromes associated with syngnathia.

  9. Congenital Hydrocephalus.

    PubMed

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure.

  10. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  11. Potential Pitfalls on the (99m)Tc-Mebrofenin Hepatobiliary Scintigraphy in a Patient with Biliary Atresia Splenic Malformation Syndrome.

    PubMed

    Maestri Brittain, Jane; Borgwardt, Lise

    2016-01-01

    Biliary atresia (BA) is an obliterative cholangiopathy affecting 1:10.000-14.000 of newborns. Infants with Biliary Atresia Splenic Malformation syndrome (BASM) are a subgroup of BA patients with additional congenital anomalies. Untreated the disease will result in fatal liver failure within the first years of life. Kasai portoenterostomy restores bile flow and delay the progressive liver damage thereby postponing liver transplantation. An early diagnosis is of most importance to ensure the effectiveness of the operation. The (99m)Tc-Mebrofenin hepatobiliary scintigraphy is part of the diagnostic strategy when an infant presents jaundice due to conjugated hyperbilirubinemia (>20 µmol/L total bilirubin of which 20% is conjugated) with its high sensitivity of 97%-100% in refuting BA. Rapid extraction of tracer by the liver and no visible tracer in the small bowl after 24 h is indicative of BA. Laparotomy with antegrade cholangiography is then performed giving the final diagnosis when the remains of the obliterated biliary tree are revealed in the case of BA. We present a case demonstrating some of the challenges of interpreting the (99m)Tc-Mebrofenin hepatobiliary scintigraphy in an infant with BASM and stress the importance that the (99m)Tc-Mebrofenin hepatobiliary scintigraphy is part of a spectrum of imaging modalities in diagnosing BA. PMID:26838802

  12. [Anesthetic management in bronchial asthma].

    PubMed

    Kozian, Alf; Schilling, Thomas; Hachenberg, Thomas

    2016-06-01

    In daily practice, acute and chronic pulmonary diseases are common issues presenting to the anesthetist. Respiratory physiology in general is affected by both general and regional anesthesia, which results in an increased number of perioperative complications in pulmonary risk patients. Therefore, anesthetic management of patients with bronchial asthma needs to address different clinical topics: the physical appearance of pulmonary disease, type and extent of surgical intervention as well as effects of therapeutic drugs, anesthetics and mechanical ventilation on respiratory function. The present work describes important precautions in preoperative scheduling of the asthmatic patient. In the operative course, airway manipulation and a number of anesthetics are able to trigger intraoperative bronchial spasm with possibly fatal outcome. It is essential to avoid these substances to prevent asthma attack. If asthmatic status occurs, appropriate procedures according to therapeutic standards have to be applied to the patient. Postoperatively, sufficient pain therapy avoids pulmonary complications and improves outcome. PMID:27359239

  13. Bronchial responsiveness in active steelworkers.

    PubMed

    Corhay, J L; Bury, T; Louis, R; Delavignette, J P; Kayembe, J M; Weber, G; Albert, A; Radermecker, M F

    1998-02-01

    Coke-oven workers are exposed to dust and irritant gases. Therefore they are at risk of developing lung diseases including chronic bronchitis. Nonspecific bronchial hyperresponsiveness (BHR) has been advocated as a potential risk factor predisposing to the development of chronic bronchitis. In a previous study, we showed that prevalence of BHR was higher in retired coke-oven workers than in retired blast furnace workers. The present study was carried out to determine the prevalence of BHR in active steelworkers. Thus, 137 coke-oven workers and 150 blast furnace workers underwent clinical examination, a standardized questionnaire for the study of respiratory symptoms, pulmonary function testing and methacholine aerosol challenge. The study demonstrates a higher prevalence and degree of BHR [provocative concentration of methacholine causing a 20% fall in forced expiratory volume in one second (PC20) < or = 8 mg x mL(-1)] in coke-oven workers than in blast furnace workers (31.4 versus 6.7%; p<0.001). Moreover, the frequency of respiratory symptoms and basal bronchial obstruction were greater among coke-oven workers with BHR in nonresponders. The basal maximum expiratory flow from 25-75% of forced vital capacity and the respiratory symptoms were correlated with bronchial responsiveness. The lack of correlation observed between BHR and the intensity of smoking or years spent in coke-oven environment may be explained by the high proportion of smokers, the worker turnover in the steel plant, and the "healthy worker effect". In conclusion, the higher prevalence and degree of bronchial hyperresponsiveness in coke-oven workers suggests that coke-oven pollutants are more intense irritants than those that escape from blast furnaces. PMID:9551724

  14. Bronchial responsiveness in active steelworkers.

    PubMed

    Corhay, J L; Bury, T; Louis, R; Delavignette, J P; Kayembe, J M; Weber, G; Albert, A; Radermecker, M F

    1998-02-01

    Coke-oven workers are exposed to dust and irritant gases. Therefore they are at risk of developing lung diseases including chronic bronchitis. Nonspecific bronchial hyperresponsiveness (BHR) has been advocated as a potential risk factor predisposing to the development of chronic bronchitis. In a previous study, we showed that prevalence of BHR was higher in retired coke-oven workers than in retired blast furnace workers. The present study was carried out to determine the prevalence of BHR in active steelworkers. Thus, 137 coke-oven workers and 150 blast furnace workers underwent clinical examination, a standardized questionnaire for the study of respiratory symptoms, pulmonary function testing and methacholine aerosol challenge. The study demonstrates a higher prevalence and degree of BHR [provocative concentration of methacholine causing a 20% fall in forced expiratory volume in one second (PC20) < or = 8 mg x mL(-1)] in coke-oven workers than in blast furnace workers (31.4 versus 6.7%; p<0.001). Moreover, the frequency of respiratory symptoms and basal bronchial obstruction were greater among coke-oven workers with BHR in nonresponders. The basal maximum expiratory flow from 25-75% of forced vital capacity and the respiratory symptoms were correlated with bronchial responsiveness. The lack of correlation observed between BHR and the intensity of smoking or years spent in coke-oven environment may be explained by the high proportion of smokers, the worker turnover in the steel plant, and the "healthy worker effect". In conclusion, the higher prevalence and degree of bronchial hyperresponsiveness in coke-oven workers suggests that coke-oven pollutants are more intense irritants than those that escape from blast furnaces.

  15. Bronchial haemangioma: exceptionally rare cause of haemoptysis.

    PubMed

    Jennings, Scott; Tharion, John; Jones, Peter; Brown, Michael

    2013-12-01

    Bronchial haemangioma is an exceptionally rare cause of haemoptysis in the adult. There are currently less than 10 recorded cases in the literature. Airway haemangiomas are generally seen in infants with coexistent cutaneous haemangiomas. The incidence of bronchial haemangioma in adults remains unknown. This case reports the diagnosis and treatment of a bronchial haemangioma in a 56 year-old male presenting with a one-month history of haemoptysis. Bronchial haemangioma diagnosis was confirmed and excision performed by bronchoscopy without complication. Bronchial haemangioma should be a considered differential diagnosis in the presence of meaningful haemoptysis when an endoluminal lesion is visualised on computed tomography scan. This case also demonstrates that bronchial haemangiomas can be successfully removed via bronchoscopy with minimal risk and discomfort to the patient.

  16. Long Upper Pouch in Esophageal Atresia: A Rare Variant.

    PubMed

    Yhoshu, Enono; Mahajan, Jai Kumar; Dash, Vedarth

    2016-01-01

    The earliest clinical sign of esophageal atresia (EA) is excessive salivation and the diagnosis is made by failure to pass an infant feeding tube (IFT) into the stomach. The diagnostic errors may occur due to presence of an unusually long upper pouch, when the IFT seems to pass into the stomach. We describe one such case and review the relevant literature. PMID:26793598

  17. Colonic atresia in cattle: A prospective study of 43 cases

    PubMed Central

    Ducharme, Norm G.; Arighi, Mimi; Horney, F. Don; Barker, Ian K.; Livesey, Michael A.; Hurtig, Mark H.; Johnson, Roger P.

    1988-01-01

    This prospective study was initiated to document the success rate obtained in the treatment of colonic atresia in calves, identify factors that influence survival rate, and to report the histopathological appearance of the proximal blind end of the ascending colon. Forty-three calves with intestinal obstruction due to colonic atresia were admitted to the Ontario Veterinary College between September 1982 and May 1986. Parameters recorded prospectively in this study included age, breed, sex, history, vital signs, acid-base and electrolyte status, location of intestinal atresia, medical and surgical management, and outcome. The typical history and clinical signs included failure to pass meconium or feces, decreased appetite, and progressive depression and abdominal distension. The most common site of colonic atresia was the midportion of the spiral loop of the ascending colon (n = 25). Of the 43 calves, three (7%) were euthanized at surgery, 21 (49%) died in the hospital, and 19 (44%) survived and were discharged from the hospital. Four of the surviving calves died subsequent to discharge giving an overall long-term (mean 15.9 months) survival rate of 35%. No significant risk factors were identified, although experienced surgeons showed a trend towards increased survival rate. ImagesFigure 2.Figure 3.Figure 4.Figure 5. PMID:17423141

  18. Theca interna: the other side of bovine follicular atresia.

    PubMed

    Clark, Leigh J; Irving-Rodgers, Helen F; Dharmarajan, Arun M; Rodgers, Raymond J

    2004-10-01

    Currently, histological classifications of ovarian follicular atresia are almost exclusively based on the morphology of the membrana granulosa without reference to the theca interna. Atresia in the bovine small antral ovarian follicle has been redefined into antral or basal atresia where cell death commences initially within antral or basal regions of the membrana granulosa, respectively. To examine cell death in the theca interna in the two types of atretic follicles, bovine ovaries were collected and processed for immunohistochemistry and light microscopy. Follicles were classified as healthy, antral atretic, or basal atretic. Follicle diameter was recorded and sections stained with lectin from Bandeiraea simplicifolia to identify endothelial cells or with an antibody to cytochrome P450 cholesterol side-chain cleavage to identify steroidogenic cells and combined with TUNEL labeling to identify dead cells. The numerical density of steroidogenic cells within the theca interna was significantly reduced (P < 0.001) in basal atretic follicles in comparison with other follicles. Cell death was greater in both endothelial cells (P < 0.05) and steroidogenic cells (P < 0.01) of the theca interna of basal atretic follicles compared with healthy and antral atretic follicles. Thus, we conclude that the theca interna is susceptible to cell death early in atresia, particularly in basal atretic follicles. PMID:15175236

  19. Eosinophilic esophagitis in children with esophageal atresia.

    PubMed

    Dhaliwal, J; Tobias, V; Sugo, E; Varjavandi, V; Lemberg, D; Day, A; Bohane, T; Ledder, O; Jiwane, A; Adams, S; Henry, G; Dilley, A; Shi, E; Krishnan, U

    2014-01-01

    Eosinophilic esophagitis (EoE) has only rarely been reported in esophageal atresia (EA) patients. A retrospective case analysis of all EA patients born at our center between January 1999 and April 2012 was performed. A total of 113 of patients were identified; 10 patients were excluded as a result of inadequate data. Eighteen patients (17%) were diagnosed with EoE. The average number of eosinophilis was 30/high-power field (HPF) (19/HPF-80/HPF). The median age for diagnosis of EoE was 1 year and 6 months (8 months-8 years and 7 months). Children with EoE had a significantly greater incidence of reflux symptoms, dysphagia, tracheomalacia, and 'hypoxic spells' (P < 0.05). EoE patients also underwent significantly more surgery including fundoplication and aortopexy when compared with those without EoE (P < 0.0001). Although the incidence of gastrostomy was greater in the EoE group (33% vs. 13%), this was not statistically significant. Half of the EoE patients had a coexisting atopic condition at time of diagnosis. The commonest condition was asthma 7/18 (38%) followed by specific food allergy 6/18 (33%). EoE was treated in 11 patients with either swallowed fluticasone or budesonide slurry. All improved clinically. Histologically, five had complete resolution and six had partial improvement. Six children with EoE were treated with acid suppression alone. All improved clinically, and 5/6 had subsequent histological resolution. One child who received acid suppression and an exclusion diet also improved. Seven patients (38%) had an esophageal stricture at time of EoE diagnosis. Five were dilated at time of the initial endoscopy, prior to the diagnosis of EoE being available. Two patients had resolution of their strictures on medical treatment of their EoE alone and did not require further dilatation. EoE was seen in 17% of children with EA in this study. EoE should be considered in EA patients with persistent symptoms on standard reflux treatment, increasing

  20. Congenital hypoaldosteronism.

    PubMed

    Sethupathi, Vanathi; Vijayakumar, M; Janakiraman, Lalitha; Nammalwar, B R

    2008-08-01

    Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

  1. Health Related Quality of Life in Patients with Biliary Atresia Surviving with their Native Liver

    PubMed Central

    Sundaram, Shikha S.; Alonso, Estella M.; Haber, Barbara; Magee, John C.; Fredericks, Emily; Kamath, Binita; Kerkar, Nanda; Rosenthal, Philip; Shepherd, Ross; Limbers, Christine; Varni, James W.; Robuck, Patricia; Sokol, Ronald J.; Liver, Childhood

    2014-01-01

    Objectives To quantify health related quality of life (HRQOL) of patients with biliary atresia with their native livers and compare them with healthy children and patients with biliary atresia post-liver transplant (LT) and to examine the relationship between HRQOL and medical variables. Study design A cross-sectional HRQOL study of patients with biliary atresia with their native livers (ages 2-25 years) was conducted and compared with healthy and post-LT biliary atresia samples using PedsQL™ 4.0 child self and parent proxy reports, a validated measure of physical/psychosocial functioning. Results 221 patients with biliary atresia with native livers (54% female, 67% white) were studied. patient self and parent proxy reports showed significantly poorer HRQOL than healthy children across all domains (p < 0.001), particularly in emotional and psychosocial functioning. Child self and parent proxy HRQOL scores from patients with biliary atresia with their native livers and post-LT biliary atresia were similar across all domains (p=NS). Child self and parent proxy reports showed moderate agreement across all scales, except social functioning (poor to fair agreement). On multivariate regression analysis, black race and elevated total bilirubin were associated with lower Total and Psychosocial HRQOL summary scores. Conclusions HRQOL in patients with biliary atresia with their native livers is significantly poorer than healthy and similar to post-LT biliary atresia children. These findings identify significant opportunities to optimize the overall health of patients with biliary atresia. PMID:23746866

  2. Congenital Toxoplasmosis

    PubMed Central

    McAuley, James B.

    2014-01-01

    Toxoplasmosis is caused by infection with the parasite Toxoplasma gondii. It is one of the most common parasitic infections in humans and is most typically asymptomatic. However, primary infection in a pregnant woman can cause severe and disabling disease in the developing fetus. Recent developments have included increased understanding of the role of parasite genotype in determining infectivity and disease severity. Risk factors for acquisition of infection have been better defined, and the important role of foodborne transmission has been further delineated. In addition, strategies have emerged to decrease mother-to-child transmission through prompt identification of acutely infected pregnant women followed by appropriate treatment. Refined diagnostic tools, particularly the addition of immunoglobulin G avidity testing, allow for more accurate timing of maternal infection and hence better decision making during pregnancy. Congenitally infected children can be treated, beginning in utero and continuing through the first year of life, to ameliorate the severity of disease. However, despite these many advances in our understanding of congenital toxoplasmosis prevention and treatment, significant areas of study remain: we need better drugs, well defined strategies for screening of pregnant women, improved food safety, and improved diagnostic tests. PMID:25232475

  3. Right oblique subxiphoid view for two-dimensional echocardiographic visualization of the right ventricle in congenital heart disease.

    PubMed

    Marino, B; Ballerini, L; Marcelletti, C; Piva, R; Pasquini, L; Zacché, C; Giannico, S; De Simone, G

    1984-11-01

    Two-dimensional echocardiography in the right oblique subxiphoid view (ROSV) was used to visualize all right ventricular components in 351 patients younger than 2 years of age (100 normal and 251 with various types of congenital heart disease). The ROSV, which is anterior and parallel to the ventricular septum, displays all right-sided cardiac components, the left atrium and the aorta. This view provided the correct diagnosis in patients with pulmonary stenosis or atresia with intact ventricular septum, Ebstein's anomaly, tricuspid atresia, infundibular ventricular septal defect, tetralogy of Fallot and truncus arteriosus. In all patients studied with the ROSV, an excellent definition of morphologic characteristics, equivalent to that in the right oblique axial angiocardiographic view, was achieved. The ROSV should be used routinely to delineate the right ventricular anatomy in all infants with congenital heart disease. PMID:6496327

  4. [Thoracic actinomycosis versus bronchial cancer].

    PubMed

    Brombacher-Frey, I; Wöckel, W; Kreusser, T

    1992-01-01

    We report on 4 thoracic actinomycoses; in three of these four cases a bronchial carcinoma was suspected, and in case No. 2 this carcinoma had been considered to be in a very advanced and inoperable stage. A man of 51 years of age was in a generally run-down condition. He also noticed that his sputum was tinged with blood. The x-ray film showed a large space-occupying growth at the right lung hilus. Repeated perbronchial biopsies of the focus did not yield any diagnosis. Actinomycosis was identified histologically only in the tissue samples obtained via thoracotomy. After a three-month penicillin course the hilar shadow receded. A 61-year old male patient was transferred to our Pneumological Hospital, being strongly suspected of suffering from an extensive bronchial carcinoma, and having multiple intrathoracic space-occupying growths as well as pleural effusions, a pericardial effusion, and an infiltration of the left thoracic wall with fistula formation; however, histological examination of skin biopsies revealed that he was suffering from actinomycosis. Antibiotic therapy cured him completely in a six-month course. In a man of 32 years of age who had been indulging for many years in a severe abuse of nicotin, we suspected a central bronchial carcinoma on the basis of his x-ray, but histology of the tissue taken from the space-occupying growth via diagnostic thoracotomy revealed that this patient, too, suffered from actinomycosis. Complete recession occurred after several months of antibiotic treatment. A woman of 82 years had been an inpatient for several months in another hospital because of relapsing pleuropneumonias on the right side. She was transferred to us as an outpatient after a renewed relapse. We conducted a transcutaneous fine-needle biopsy of the right indurating pleural effusion. A few actinomyces filaments were seen on histological examination of the purulent exudate. Hence, actinomycosis was confirmed. After antibiotic therapy the finding receded

  5. Primary diffuse tracheo-bronchial amyloidosis

    PubMed Central

    Antunes, Maria L.; Da Luz, J. M. Vieira

    1969-01-01

    A case of diffuse tracheo-bronchial amyloidosis in a 62-year-old woman thought to have chronic bronchitis is reported. The immunological mechanism in the pathogenesis of this condition is considered and the need for bronchological investigation in chronic bronchial disorders is stressed. Images PMID:5810372

  6. Prenatal Diagnosis of Congenital High Airway Obstruction Syndrome: Report of Two Cases and Brief Review of the Literature

    PubMed Central

    Pala, Halil Gursoy; Nese, Nalan; Tarhan, Serdar; Baytur, Yesim

    2013-01-01

    Congenital high airway obstruction syndrome (CHAOS) is the obstruction of the fetal upper airways, which may be partial or complete. It is usually incompatible with life. Prenatal recognition of the disease is quite important due to the recently described management options. We report here two cases of CHAOS due to tracheal atresia diagnosed by antenatal ultrasonography and fetal MRI. We also briefly review the relevant literature with the associated management options. PMID:24251054

  7. Bonebridge Implantation for Conductive Hearing Loss in a Patient with Oval Window Atresia.

    PubMed

    Kim, Minbum

    2015-08-01

    The occurrence of oval window atresia is a rare anomaly with conductive hearing loss. Traditional atresia surgeries involve challenging surgical techniques with risks of irreversible inner ear damage. Recent reports on Bonebridge (Medel, Innsbruck, Austria), a novel implantable bone conduction hearing aid system, assert that the device is safe and effective for conductive hearing loss. We present a case of Bonebridge implantation in an eight-year-old girl with bilateral oval window atresia. PMID:26381009

  8. Appearances are Deceptive - Passing a Nasogastric Tube does Not Always Rule Out Oesophageal Atresia.

    PubMed

    Kumar, Manish; Thomas, Niranjan

    2016-04-01

    Oesophageal atresia/trachea-Oesophageal fistula is commonly diagnosed in the newborn period by inability to pass a nasogastric tube (NGT). We present the instance of a newborn baby where the diagnosis of oesophageal atresia was delayed because of an apparent successful passage of nasogastric tube to the stomach. Failure to reinsert the NGT raised the suspicion of oesophageal atresia which was confirmed by contrast study showing blind upper oesophageal pouch.

  9. Choanal atresia in a patient with the deletion (9p) syndrome

    SciTech Connect

    Shashi, V.; Golden, W.L.; Fryburg, J.S.

    1994-01-01

    The authors report on a child with choanal atresia and deletion 9p. A review of the literature documented one previous instance of choanal atresia in a patient with del(9p). Choanal atresia may be part of the spectrum of malformations in the deletion (9p) syndrome and its presence should prompt a search for this particular deletion as part of the differential diagnosis. 9 refs., 3 figs.

  10. Bonebridge Implantation for Conductive Hearing Loss in a Patient with Oval Window Atresia.

    PubMed

    Kim, Minbum

    2015-08-01

    The occurrence of oval window atresia is a rare anomaly with conductive hearing loss. Traditional atresia surgeries involve challenging surgical techniques with risks of irreversible inner ear damage. Recent reports on Bonebridge (Medel, Innsbruck, Austria), a novel implantable bone conduction hearing aid system, assert that the device is safe and effective for conductive hearing loss. We present a case of Bonebridge implantation in an eight-year-old girl with bilateral oval window atresia.

  11. [Eosinophilic oesophagitis in bronchial asthma].

    PubMed

    Mikhaleva, L M; Barkhina, T G; Golovanova, V E; Shchegoleva, N N; Gracheva, N A

    2012-01-01

    Combination of bronchial asthma and gastrointestinal pathology is frequently encountered in clinical practice. Clinical symptoms of this condition are highly diversified and gastrointestinal diseases play an important role in exacerbation of bronchial asthma. The prevalence of allergic diseases has recently become rampant. Eosinophilic oesophagitis is worth of special attention because its histological criteria, unlike clinical ones, are well defined. They include chronic immune antigen-mediated inflammatory oesophageal disease with pronounced intraepithelial eosinophilic infiltration and clinical symptoms resulting from oesophageal dysfunction that resemble manifestations of gastroesophageal reflux disease but fail to respond to antireflux and antacid therapy. Many specific and practical aspects of the problem remain to be elucidated. The poor awareness of clinicians of this disease hampers its adequate diagnostics and treatment. In order to revise and optimize the former diagnostic and therapeutic algorithm., an interdisciplinary expert group was set up in 2010 constituted by specialists of the American College of Gastroenterology, American Academy of Asthma, Allergy and Immunology, and Society of Pediatric Gastroenterology, Hepatology, and Nutrition. Results of the work of this group together with the literature data on eosinophilic esopahgitis are discussed in the present review. PMID:23516863

  12. Diagnosis and endoscopic treatment of esophago-bronchial fistula due to gastric heterotopy

    PubMed Central

    Katsanos, Konstantinos H; Christodoulou, Dimitrios K; Kamina, Sevasti; Maria, Kosmidou; Lambri, Evangelia; Theodorou, Stavroula; Tsampoulas, Konstantinos; Vasiliki, Mitsi; Tsianos, Epameinondas V

    2010-01-01

    Heterotopic gastric mucosa patches are congenital gastrointestinal abnormalities and have been reported to occur anywhere along the gastrointestinal tract from mouth to anus. Complications of heterotopic gastric mucosa include dysphagia, upper gastrointestinal bleeding, upper esophageal ring stricture, adenocarcinoma and fistula formation. In this case report we describe the diagnosis and treatment of the first case of esophago-bronchial fistula due to heterotopic gastric mucosa in mid esophagus. A 40-year old former professional soccer player was referred to our department for treatment of an esophago-bronchial fistula. Microscopic examination of the biopsies taken from the esophageal fistula revealed the presence of gastric heterotopic mucosa. We decided to do a non-surgical therapeutic endoscopic procedure. A sclerotherapy catheter was inserted through which 1 mL of ready to use synthetic surgical glue was applied in the fistula and it closed the fistula opening with excellent results. PMID:21160729

  13. A Surviving Child With Complete Proximal Tracheal Atresia

    PubMed Central

    Haight, Ken; Sankaran, Koravangattu; Shokeir, Mohamed

    1984-01-01

    An infant was born with an unusual combination of primitive foregut anomalies consisting of complete proximal tracheal atresia, proximal esophageal atresia and distal tracheoesophageal fistula. Before the birth, the family physician suspected an anomaly of the upper airway or esophageal occlusion on the basis of hydramnios evident at the thirty-third to thirty-fourth week of gestation, and earlier amniocentesis which indicated a normal level of α-fetoprotein. He consulted the hospital obstetrics and neonatology departments, which were thus prepared to deal with a potential airway problem at the birth. At birth, prompt airway management, including tracheostomy, prevented anoxic damage to the child. Features which should alert the physician to tracheal obstruction include antenatal polyhydramnios; severe respiratory distress without an audible cry and palpable distal trachea in the newborn; and failure to advance the endotracheal tube beyond the infant's vocal cords. PMID:21279046

  14. Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

    PubMed Central

    2014-01-01

    Background Kabuki syndrome (KS) is a rare, multiple congenital anomalies/intellectual disability syndrome caused by mutations of MLL2 gene, which codifies for a histone methyltrasferase that regulates the embryogenesis and the tissue development. Left-bronchial isomerism is a rare congenital abnormality that can be defined as the absence of the normal lateralizing features which distinguish right and left-sides in the lungs. To date, this is the first report of left-bronchial isomerism in association with KS. Case presentation A one-month-old Caucasian male patient underwent our attention for microcephaly, dysmorphic features (long palpebral fissures, eyebrows with sparse lateral third, everted lower eyelids, blue sclerae, large dysplastic ears, lower lip pits), persistent fetal fingertip pads, short stature, heart defects (interventricular defect and aortic coarctation), unilateral cryptorchidism, hypotonia and delay in gross motor skills. These features suggested a diagnosis of KS and a molecular analysis confirmed a novel frame-shift mutation in the exon 11 of MLL2 gene. Subsequently, given recurrent respiratory infections with a normal immunological status, he underwent a chest CT scan that showed a left bronchial isomerism. Conclusion We report a patient affected by KS, with a novel MLL2 mutation and an atypical phenotype characterized by left-side bronchial isomerism. Interestingly, genes involved in the heterotaxia/isomerism such as ROCK2 and SHROOM3 are known to interact with MLL2 gene. In order to achieve a correct diagnosis and an appropriate therapy, the presence of pulmonary anatomical variations should be investigated in KS patients with respiratory signs not associated to immunological deficiency. Finally, our findings support the hypothesis that the mutations leading to a complete loss of function of MLL2 gene is often associated with complex visceral malformations. PMID:24472332

  15. [Thoracic surgery for patients with bronchial asthma].

    PubMed

    Iyoda, A; Satoh, Y

    2012-07-01

    Thoracic surgery poses a risk for complications in the respiratory system. In particular, for patients with bronchial asthma, we need to care for perioperative complications because it is well known that these patients frequently have respiratory complications after surgery, and they may have bronchial spasms during surgery. If we can get good control of their bronchial asthma, we can usually perform surgery for these patients without limitations. For safe postoperative care, it is desirable that these patients have stable asthma conditions that are well-controlled before surgery, as thoracic surgery requires intrabronchial intubation for anesthesia and sometimes bronchial resection. These stimulations to the bronchus do not provide for good conditions because of the risk of bronchial spasm. Therefore, we should use the same agents that are used to control bronchial asthma if it is already well controlled. If it is not, we have to administer a β₂ stimulator, aminophylline, or steroidal agents for good control. Isoflurane or sevoflurane are effective for the safe control of anesthesia during surgery, and we should use a β₂ stimulator, with or without inhalation, or steroidal agents after surgery. It is important to understand that we can perform thoracic surgery for asthma patients if we can provide perioperative control of bronchial asthma, although these patients still have severe risks. PMID:22868432

  16. Ex utero intrapartum treatment procedure for management of congenital high airway obstruction syndrome in a vertex/breech twin gestation.

    PubMed

    Elliott, Richard; Vallera, Cristianna; Heitmiller, Eugenie S; Isaac, Gillian; Lee, Michael; Crino, Jude; Boss, Emily F; Ishman, Stacey L

    2013-03-01

    Congenital high airway obstruction syndrome (CHAOS) is one indication for the ex utero intrapartum treatment (EXIT), which is used to secure the fetal airway, while fetal oxygenation is maintained by uteroplacental circulation. We report a successful EXIT procedure in a twin gestation in which one child had CHAOS while the other was a healthy child without any congenital abnormalities. After version of Twin B to allow for delivery of Twin A, Twin B underwent airway evaluation and tracheostomy for laryngeal atresia prior to delivery.

  17. Congenital hypothyroidism.

    PubMed

    Rastogi, Maynika V; LaFranchi, Stephen H

    2010-01-01

    Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. In countries with newborn screening programs in place, infants with CH are diagnosed after detection by screening tests. The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. Other diagnostic tests, such as thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology, although treatment may be started without these tests. Levothyroxine is the treatment of choice; the recommended starting dose is 10 to 15 mcg/kg/day. The immediate goals of treatment are to rapidly raise the serum T4 above 130 nmol/L (10 ug/dL) and normalize serum TSH levels. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and free T4 should be measured every 1-2 months in the first 6 months of life and every 3-4 months thereafter. In general, the prognosis

  18. [COPD: bronchial and systemic inflammation].

    PubMed

    Macario, Ciro Casanova; de Torres Tajes, Juan Pablo; Córdoba Lanus, Elizabeth

    2010-01-01

    Chronic obstructive pulmonary disease (COPD) is considered to be an inflammatory disease of the airways, in which there can be low-grade systemic inflammation. The etiology of this disease is multifactorial but is mainly due to an anomalous and amplified inflammatory response to tobacco smoke. This inflammatory response involves innate and acquired immunity. The latter is characterized by a Th1-type (CD8) response and its presence seems to be associated with progression to advanced stages of the disease. Currently, it is unknown whether bronchial and systemic inflammation are related or whether they act as independent compartments. Most of the available data on COPD are drawn from cross-sectional studies and consequently a causal relation between the possible inflammatory mediators and the genetic factors involved in pulmonary and extrapulmonary involvement in this disease cannot be established. Further studies are required that would allow the inflammatory response to be correlated with the distinct COPD phenotypes.

  19. [Mega-duodenum and constipation after surgery for congenital atresia of the jejunum].

    PubMed

    Karstensen, John; Raahave, Dennis; Kirkegaard, Preben

    2011-06-20

    A 33 year-old female presented with constipation and a right-sided palpable abdominal mass, suspected to be the colon. The colonic transit time was prolonged, but the dilated organ was a mega duodenum that had developed after surgery for three jejunal atresies performed one day after birth. The colon was malrotated, being situated to the left of the columna. Renewed resection surgery was uneventful, and after such surgery the constipation receded and the colonic transit time returned to normal.

  20. [Frequency of congenital anomalies in cattle: results from the practice in comparison with literature].

    PubMed

    Bähr, C; Distl, O

    2005-04-01

    The study gives a short survey of the literature of frequently observed congenital anomalies in cattle and refers to data on cases of congenital anomalies registered in a veterinary practice over a period of 8 years and in an AI (artificial insemination) station of the Rinder-Union West (RUW) during 4 years. The frequency of congenital anomalies was estimated at 0.013% in the area of the RUW. In the veterinary practice a frequency of 0.51% was found. The most prevalent anomalies were seen in legs (39% in the veterinary practice and 21% in RUW) followed by congenital anomalies of the spine (9% in the veterinary practice and 17% in RUW). Arthrogryposes were most frequent among the anomalies of the legs with 65% (veterinary practice) and 39% (RUW), respectively, of all cases of registered leg anomalies in the respective area. Umbilical hernia and atresia of segments of the intestinum were seen in 8-30% of all registered cases. The frequency of congenital anomalies differed not significantly among paternal half sib groups. A questionnaire was proposed for the registration of congenital anomalies in progeny tests of AI bulls. A series of photographs showing the most prevalent congenital anomalies is supporting the registration form. PMID:15900680

  1. Autopsy features in a newborn baby affected by a central congenital diaphragmatic hernia.

    PubMed

    Bolino, Giorgio; Gitto, Lorenzo; Serinelli, Serenella; Maiese, Aniello

    2015-03-01

    Congenital diaphragmatic hernia is a congenital malformation of the diaphragm, resulting in the herniation of the abdominal organs into the thoracic cavity. The most common types of congenital diaphragmatic hernia are Bochdalek hernia (postero-lateral hernia), Morgagni hernia (anterior defect), and diaphragm eventration (abnormal displacement of part or all of an otherwise intact diaphragm into the chest cavity). Congenital diaphragmatic hernia is a life-threatening pathology in infants, and a major cause of death due to pulmonary hypoplasia and pulmonary hypertension. We present a fatal case of congenital diaphragmatic hernia in a newborn. At the autopsy, a central defect of the diaphragm was found, 8 × 5 cm in size, that led to a herniation of the small intestine, the right lobe of the liver, and the right adrenal gland into the thorax. An esophageal atresia was associated with the congenital diaphragmatic hernia. The lungs showed severe hypoplasia and atelectasia. Physicians should pay attention to a prenatal diagnosis of congenital diaphragmatic hernia in order to prevent newborn fatalities. PMID:25573226

  2. [Congenital nasal obstruction due to pyriform aperture stenosis. A case series].

    PubMed

    Cuestas, G; José, G; Demarchi, V; Razetti, J; Boccio, C

    2015-01-01

    Nasal obstruction in neonates is a potentially fatal condition due to their exclusive nasal breathing. The main cause is inflammatory or infectious rhinitis. Congenital, neoplastic, traumatic or iatrogenic causes are less frequent. Choanal atresia is the most common congenital nasal anomaly. A less common etiology of congenital nasal obstruction is pyriform aperture stenosis. Suspicion might arise in any newborn with varying degrees of stridor and respiratory distress, associated with the difficulty of passing a probe through anterior nares. Diagnosis should be confirmed by a computed tomography of the craniofacial massif. The therapeutic approach will depend on the severity of symptoms. We describe our experience with 5 patients with this condition, treated surgically using a sub-labial approach, and followed by nasal stenting.

  3. [Congenital nasal obstruction due to pyriform aperture stenosis. A case series].

    PubMed

    Cuestas, G; José, G; Demarchi, V; Razetti, J; Boccio, C

    2015-01-01

    Nasal obstruction in neonates is a potentially fatal condition due to their exclusive nasal breathing. The main cause is inflammatory or infectious rhinitis. Congenital, neoplastic, traumatic or iatrogenic causes are less frequent. Choanal atresia is the most common congenital nasal anomaly. A less common etiology of congenital nasal obstruction is pyriform aperture stenosis. Suspicion might arise in any newborn with varying degrees of stridor and respiratory distress, associated with the difficulty of passing a probe through anterior nares. Diagnosis should be confirmed by a computed tomography of the craniofacial massif. The therapeutic approach will depend on the severity of symptoms. We describe our experience with 5 patients with this condition, treated surgically using a sub-labial approach, and followed by nasal stenting. PMID:24635981

  4. [CYTYOGENETIC MARKERS OF BRONCHIAL ASTHMA IN CHILDREN].

    PubMed

    Lytvynets', L Ia

    2014-01-01

    The learning of cytyogenetic special of cariotip in children with the bronchial asthma maked by course of the investigation of prometahyases chromosomes of limphocytes of the periferic bloods. The quantity of association of acrocentric chromosome was analised. The 82 children in age 6-18 years old with the bronchial asthma and with the different control were learned by results of asthma--test control. In children with the noncontrol bronchial asthma the big frequency of of association of acrocentric chromosome 13-15 (D-D), 21-22 (G-G) n 13-15--21-22 (D-G) were received. In patients with the bronchial asthma the lover mitotic activity by healthy were marked (P(N) < 0.05). With the degree of activity it was decreased.

  5. Permanent Cortical Blindness After Bronchial Artery Embolization

    SciTech Connect

    Doorn, Colette S. van De Boo, Diederick W.; Weersink, Els J. M.; Delden, Otto M. van Reekers, Jim A. Lienden, Krijn P. van

    2013-12-15

    A 35-year-old female with a known medical history of cystic fibrosis was admitted to our institution for massive hemoptysis. CTA depicted a hypertrophied bronchial artery to the right upper lobe and showed signs of recent bleeding at that location. Bronchial artery embolization (BAE) was performed with gelfoam slurry, because pronounced shunting to the pulmonary artery was present. Immediately after BAE, the patient developed bilateral cortical blindness. Control angiography showed an initially not opacified anastomosis between the embolized bronchial artery and the right subclavian artery, near to the origin of the right vertebral artery. Cessation of outflow in the bronchial circulation reversed the flow through the anastomosis and allowed for spill of embolization material into the posterior circulation. Unfortunately the cortical blindness presented was permanent.

  6. Congenital hypothyroidism.

    PubMed

    Abduljabbar, Mohammad A; Afifi, Ashraf M

    2012-01-01

    Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth. Babies with CH who are not identified and treated promptly develop severe mental retardation. Most of the babies with CH do not manifest the typical known signs and symptoms of hypothyroidism, and this is most likely due to transplacental passage of some maternal thyroid hormone in addition to some residual neonatal thyroid function, as might be seen with thyroid hypoplasia, an ectopic gland, or mild dyshormonogenesis. Screening for CH has enabled the virtual eradication of the devastating effects of mental retardation due to sporadic CH in most developed countries of the world. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Permanent CH refers to a persistent deficiency of thyroid hormone that requires life-long treatment. Transient CH refers to a temporary deficiency of thyroid hormone that is discovered at birth but recovers to normal in the first few months or years of life. In the last several decades, there have been exciting advances in our understanding of fetal and neonatal thyroid physiology. In addition, advances in molecular biology have helped in understanding the early events in thyroid gland embryogenesis, mechanisms of thyroid action in the brain, the molecular basis for many of the inborn errors of thyroid hormonogenesis, and thyroid hormone action. However, many questions and challenges are still not answered. For example, the increasing numbers of surviving small and premature neonates with abnormalities in thyroid function need definite diagnostic criteria and whether they require medical therapy. Another challenge is the dilemma of finding the best screening methodology that is sensitive and cost effective. PMID:22570946

  7. Congenital myopathies

    PubMed Central

    Colombo, Irene; Scoto, Mariacristina; Manzur, Adnan Y.; Robb, Stephanie A.; Maggi, Lorenzo; Gowda, Vasantha; Cullup, Thomas; Yau, Michael; Phadke, Rahul; Sewry, Caroline; Jungbluth, Heinz

    2015-01-01

    Objective: To assess the natural history of congenital myopathies (CMs) due to different genotypes. Methods: Retrospective cross-sectional study based on case-note review of 125 patients affected by CM, followed at a single pediatric neuromuscular center, between 1984 and 2012. Results: Genetic characterization was achieved in 99 of 125 cases (79.2%), with RYR1 most frequently implicated (44/125). Neonatal/infantile onset was observed in 76%. At birth, 30.4% required respiratory support, and 25.2% nasogastric feeding. Twelve percent died, mainly within the first year, associated with mutations in ACTA1, MTM1, or KLHL40. All RYR1-mutated cases survived and did not require long-term ventilator support including those with severe neonatal onset; however, recessive cases were more likely to require gastrostomy insertion (p = 0.0028) compared with dominant cases. Independent ambulation was achieved in 74.1% of all patients; 62.9% were late walkers. Among ambulant patients, 9% eventually became wheelchair-dependent. Scoliosis of variable severity was reported in 40%, with 1/3 of (both ambulant and nonambulant) patients requiring surgery. Bulbar involvement was present in 46.4% and required gastrostomy placement in 28.8% (at a mean age of 2.7 years). Respiratory impairment of variable severity was a feature in 64.1%; approximately half of these patients required nocturnal noninvasive ventilation due to respiratory failure (at a mean age of 8.5 years). Conclusions: We describe the long-term outcome of a large cohort of patients with CMs. While overall course is stable, we demonstrate a wide clinical spectrum with motor deterioration in a subset of cases. Severity in the neonatal/infantile period is critical for survival, with clear genotype-phenotype correlations that may inform future counseling. PMID:25428687

  8. Short-gap Isolated Esophageal Atresia Causing Stridor Due to Compression of the Trachea.

    PubMed

    Sekmenli, Tamer; Ciftci, İlhan; Sivri, Mesut; Koplay, Mustafa

    2015-12-01

    Isolated esophageal atresias are reported always to be associated with long gap in the literature. In this manuscript, we aimed to discuss the imaging and surgical treatment methods of an isolated esophageal atresia case with 'short gap' who had stridor due to compression of the trachea by dilated upper esophageal pouch and had not identified previously in the literature. PMID:26843741

  9. Short-gap Isolated Esophageal Atresia Causing Stridor Due to Compression of the Trachea

    PubMed Central

    Sekmenli, Tamer; Ciftci, İlhan; Sivri, Mesut; Koplay, Mustafa

    2015-01-01

    Isolated esophageal atresias are reported always to be associated with long gap in the literature. In this manuscript, we aimed to discuss the imaging and surgical treatment methods of an isolated esophageal atresia case with ‘short gap’ who had stridor due to compression of the trachea by dilated upper esophageal pouch and had not identified previously in the literature. PMID:26843741

  10. VATS right upper lobe bronchial sleeve resection

    PubMed Central

    Ma, Qianli

    2016-01-01

    Background The aim of this study is to discuss video-assisted thoracic surgery (VATS) sleeve bronchial lobectomy when handling the locally advanced central lung cancer (involving the trachea and/or main bronchus). Methods A 2.5 cm × 1.0 cm mass was found in the right upper lobe. Bronchoscopy demonstrated the tumor obstructing the right upper lobe bronchus and involved the right main bronchus and bronchus intermedius. Interrupted sutures were chosen for bronchial anastomosis. Bronchial membrane was sutured first, and then circumference end-to-end anastomoses were carried out using 3-0 absorbable sutures. Results There were no complications and the patient was discharged 8 days postoperatively. Conclusions The third intercostal space of the anterior axillary line was suggested for right upper lobe bronchial sleeve resection. This incision can reduce the distance and angle between the anastomosis to the incision, and facilitate anastomosis. This approach can also prevent operator from fatigue for keeping one posture for a long time. Clearance of the mediastinal lymph nodes before cutting the bronchus was helpful for exposing the right main bronchus, the upper lobe bronchus and bronchus intermedius satisfied. And this option would avoid pulling bronchial anastomosis during mediastinal lymph nodes clearance. Interrupted suture was safe and effective for VATS bronchial anastomosis. PMID:27621889

  11. Anatomical modeling of the bronchial tree

    NASA Astrophysics Data System (ADS)

    Hentschel, Gerrit; Klinder, Tobias; Blaffert, Thomas; Bülow, Thomas; Wiemker, Rafael; Lorenz, Cristian

    2010-02-01

    The bronchial tree is of direct clinical importance in the context of respective diseases, such as chronic obstructive pulmonary disease (COPD). It furthermore constitutes a reference structure for object localization in the lungs and it finally provides access to lung tissue in, e.g., bronchoscope based procedures for diagnosis and therapy. This paper presents a comprehensive anatomical model for the bronchial tree, including statistics of position, relative and absolute orientation, length, and radius of 34 bronchial segments, going beyond previously published results. The model has been built from 16 manually annotated CT scans, covering several branching variants. The model is represented as a centerline/tree structure but can also be converted in a surface representation. Possible model applications are either to anatomically label extracted bronchial trees or to improve the tree extraction itself by identifying missing segments or sub-trees, e.g., if located beyond a bronchial stenosis. Bronchial tree labeling is achieved using a naïve Bayesian classifier based on the segment properties contained in the model in combination with tree matching. The tree matching step makes use of branching variations covered by the model. An evaluation of the model has been performed in a leaveone- out manner. In total, 87% of the branches resulting from preceding airway tree segmentation could be correctly labeled. The individualized model enables the detection of missing branches, allowing a targeted search, e.g., a local rerun of the tree-segmentation segmentation.

  12. Increased disomic homozygosity in the telomeric region of chromosome 21 among Down Syndrome individuals with duodenal atresia

    SciTech Connect

    Lamb, N.E.; Feingold, E.; Sherman, S.L.

    1994-09-01

    Although duodenal atresia (DA) is present in only 4-7% of all Down Syndrome (DS) individuals, 30-50% of all congenital duodenal atresias occur in the DS population, suggesting the presence of gene(s) on chromosome 21 that play an important role in intestinal development. We recently proposed a chromosome 21 gene dosage model to explain the phenotypic variance seen among DS individuals and presented a strategy to map genes involved in these phenotypic traits. We suggest that {open_quote}hyper-dosage{close_quote} resulting from normal allelic differences explains the phenotypic variation. A proportion of trisomic genotypes would exceed some activity threshold and express the trait. In affected individuals, this increase in expression is due to the presence of two identical copies of {open_quote}susceptibility{close_quote} allele, inherited from a heterozygous parent of origin. Individuals with trisomy 21 and a specific phenotypic defect should exhibit increased levels of disomic homozygosity in the region containing the gene involved in the defect`s etiology. These data can be used to map these genes. Using this approach, we have examined markers along the long arm of chromosome 21 among DS individuals with DA and determined the degree of disomic homozygosity at each marker. This frequency was compared to the level of disomic homozygosity among our entire DS study population consisting of approximately 380 DS families to test for linkage between DA and each marker. Preliminary analysis of 13 DS cases with DA indicates an increase in disomic homozygosity along the distal region of the chromosome, from HMG14 to D21S171, the most telomeric marker analyzed. An additional 15 cases are currently being analyzed to confirm and better define this candidate region.

  13. [The bubble-blowing neonate: a red flag for oesophageal atresia].

    PubMed

    Zwaan, Esther; Meij-de Vries, Annebeth; van Deutekom, Arend W; van der Steeg, Alida F W; Sleeboom, Christien; Heij, Hugo A

    2013-01-01

    When a newborn develops feeding difficulties, is blowing bubbles or has excessive saliva, it is important to consider the diagnosis of oesophageal atresia. Prenatal detection of oesophageal atresia is difficult. Postnatal bubble blowing, resulting from the inability to swallow excessive oropharyngeal secretions, is pathognomonic. These symptoms should trigger the midwife or physician to consider this diagnosis. We present three cases to illustrate the difficulties of early recognition and the consequences of a late detection of this condition. The first and third cases show that a delayed diagnosis of oesophageal atresia can lead to dangerous situations. Our second case illustrates that not every poorly drinking neonate has oesophageal atresia, and that this diagnosis may be rejected if the physician is able to pass a nasogastric tube. In every neonate who is unable to drink, we advise attempting to pass a nasogastric tube and taking a chest x-ray to distinguish between oesophageal atresia and other causes of feeding problems.

  14. Congenital Intralabyrinthine Cholesteatoma

    PubMed Central

    Prasad, Sanjay; Prasad, Kiran; Azadarmaki, Roya

    2014-01-01

    A patient with a congenital intralabyrinthine cholesteatoma is presented. High-resolution computerized tomographic scans and intraoperative photomicrographs display features of intralabyrinthine extension. We discuss pathogenetic theories for the development of congenital intralabyrinthine cholesteatoma. The distinction of this condition from congenital cholesteatoma with labyrinthine erosion is discussed. PMID:25057421

  15. Perennial atopic rhinitis as an early stage of bronchial asthma.

    PubMed

    Gniazdowski, R

    1979-01-01

    Etiologic factors and incidence of bronchial hyperreactivity as a 'stigma' of bronchial asthma were studied in 237 patients suffering from perennial atopic rhinitis. All pateints underwent detailed laryngologic and allergologic examiniation and pulmonary function tests at rest, after exercise, and after histamine inhalation. Most often the patients were sensitized tungal allergens. Bronchial hyperreactivity, typical of bronchial asthma, was observed in 48.52% of patients. Results were analysed statistically. It was concluded that early institution of causal therapy can cure the symptoms of rhinitis and prevent evolution of the disease into atopic bronchial asthma in patients already suffering from bronchial hyperreactivity. PMID:495074

  16. [Atypical case of bronchial carcinoid].

    PubMed

    Andrzejak, R; Mydłowski, R; Krajewski, E; Orłowski, T; Bochnia, M

    1997-01-01

    This article illustrates problems in diagnosis and treatment of an atypical form of bronchial carcinoid. We described the case of a 49-year old man, exposed to granite dust and noise for 25 years who had suffered from frequent bronchitis inflammations and pneumonias for 5 years prior to the diagnosis. He was admitted to our clinic because of supposed occupational nature of hearing deficiency. Although a pneumoconiosis was excluded before the admission, we found clinical and X-ray features of the right lung emphysema with medium restrictive ventilation disturbances. Bronchoscopy was performed because of "bright" right lung and ventilation disturbances and it showed presence of the carcinoid. Unusual in this case were tiny anamnestical findings (mild dyspnea attacks after physical effort or nervousness) plus increasing frequency of reported from the childhood bronchitis and pneumonias and uncharacteristic "bright" right lung in X-ray. Therapeutical difficulties resulted from atypical histological form of the tumor, its diameter, polypous-infiltrative character, and inconvenient localization. In spite of late diagnosis of carcinoid and significant acceleration of respiratory decompensation symptoms after the diagnosis the attempt of surgical therapy was appropriate but unsuccessful. After the operation the patient was suffering long lasting lowering of arterial pressure (what was corrected with catecholamine infusions) probably as a result of serotonin secretion. However it was not established because of technical reasons.

  17. Pendelluft in the bronchial tree.

    PubMed

    Greenblatt, Elliot E; Butler, James P; Venegas, Jose G; Winkler, Tilo

    2014-11-01

    Inhomogeneous inflation or deflation of the lungs can cause dynamic pressure differences between regions and lead to interregional airflows known as pendelluft. This work first uses analytical tools to clarify the theoretical limits of pendelluft at a single bifurcation. It then explores the global and regional pendelluft that may occur throughout the bronchial tree in a realistic example using an in silico model of bronchoconstriction. The theoretical limits of pendelluft volume exchanged at a local bifurcation driven by sinusoidal breathing range from 15.5% to 41.4% depending on the relative stiffness of the subtended regions. When nonsinusoidal flows are considered, pendelluft can be as high as 200% inlet tidal volume (Vin). At frequencies greater than 10 Hz, the inertia of the air in the airways becomes important, and the maximal local pendelluft is theoretically unbounded, even with sinusoidal breathing. In a single illustrative numerical simulation of bronchoconstriction with homogenous compliances, the overall magnitude of global pendelluft volume was <2% of the tidal volume. Despite the small overall magnitude, pendelluft volume exchange was concentrated in poorly ventilated regions of the lung, including local pendelluft at bifurcations of up to 13% Vin. This example suggests that pendelluft may be an important phenomena contributing to regional gas exchange, irreversible mixing, and aerosol deposition patterns inside poorly ventilated regions of the lung. The analytical results support the concept that pendelluft may be more prominent in diseases with significant heterogeneity in both resistance and compliance. PMID:25170072

  18. Surgical advances in the fetus and neonate: esophageal atresia.

    PubMed

    Kunisaki, Shaun M; Foker, John E

    2012-06-01

    This article focuses on selected topics in the diagnosis and management of patients with esophageal atresia (EA) with or without tracheoesophageal fistula. The current status of prenatal diagnosis and recent advances in surgical techniques, including thoracoscopic repair for short-gap EA and tension-induced esophageal growth for long-gap EA, are reviewed. Although no consensus exists among pediatric surgeons regarding the role of these procedures in the treatment of EA, one can reasonably expect that, as they evolve, their application will become more widespread in this challenging patient population.

  19. Endoscopic Management of Anastomotic Esophageal Strictures Secondary to Esophageal Atresia.

    PubMed

    Manfredi, Michael A

    2016-01-01

    The reported incidence of anastomotic stricture after esophageal atresia repair has varied in case series from as low as 9% to as high as 80%. The cornerstone of esophageal stricture treatment is dilation with either balloon or bougie. The goal of esophageal dilation is to increase the luminal diameter of the esophagus while also improving dysphagia symptoms. Once a stricture becomes refractory to esophageal dilation, there are several treatment therapies available as adjuncts to dilation therapy. These therapies include intralesional steroid injection, mitomycin C, esophageal stent placement, and endoscopic incisional therapy. PMID:26616905

  20. Aetiology of biliary atresia: what is actually known?

    PubMed Central

    2013-01-01

    Biliary atresia (BA) is a rare disease of unknown etiology and unpredictable outcome, even when there has been timely diagnosis and exemplary surgery. It has been the commonest indication for liver transplantation during childhood for the past 20 years. Hence much clinical and basic research has been directed at elucidating the origin and pathology of BA. This review summarizes the current clinical variations of BA in humans, its occasional appearance in animals and its various manifestations in the laboratory as an experimental model. PMID:23987231

  1. Structural and numerical changes of chromosome X in patients with esophageal atresia.

    PubMed

    Brosens, Erwin; de Jong, Elisabeth M; Barakat, Tahsin Stefan; Eussen, Bert H; D'haene, Barbara; De Baere, Elfride; Verdin, Hannah; Poddighe, Pino J; Galjaard, Robert-Jan; Gribnau, Joost; Brooks, Alice S; Tibboel, Dick; de Klein, Annelies

    2014-09-01

    Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a relatively common birth defect often associated with additional congenital anomalies such as vertebral, anal, cardiovascular, renal and limb defects, the so-called VACTERL association. Yet, little is known about the causal genetic factors. Rare case reports of gastrointestinal anomalies in children with triple X syndrome prompted us to survey the incidence of structural and numerical changes of chromosome X in patients with EA/TEF. All available (n=269) karyotypes of our large (321) EA/TEF patient cohort were evaluated for X-chromosome anomalies. If sufficient DNA material was available, we determined genome-wide copy number profiles with SNP array and identified subtelomeric aberrations on the difficult to profile PAR1 region using telomere-multiplex ligation-dependent probe amplification. In addition, we investigated X-chromosome inactivation (XCI) patterns and mode of inheritance of detected aberrations in selected patients. Three EA/TEF patients had an additional maternally inherited X chromosome. These three female patients had normal random XCI patterns. Two male EA/TEF patients had small inherited duplications of the XY-linked SHOX (Short stature HOmeoboX-containing) locus. Patients were small for gestational age at birth (

  2. [Treatment strategy for patients with extracardiac structural anomalies and congenital heart disease].

    PubMed

    Murakami, Arata

    2011-07-01

    The surgical treatment of patients with extracardiac structural anomalies and congenital heart disease often carries major risk and remains a challenging field. An appropriate, solid treatment plan should be developed during the early phase with interactive intelligence sharing between a pediatric surgery team and congenital heart surgery team. As the top of the chain of command, the role of a neonatologist is important. This article reviews the history of surgery for congenital heart disease and the progress of the Japan Congenital Cardiovascular Surgery Database. Finally, as an example of a combination of diseases, the clinical course and intelligence sharing during treatment of a patient with biliary atresia requiring living-donor liver transplantation and hypoplastic left heart syndrome is reported. The National Quality Forum provided structural measures, process measures, and outcome measures for congenital heart surgery. Structural measures provided by the National Quality Forum included participation in a preoperative multidisciplinary conference. To improve the outcome of surgical treatment of patients with congenital heart disease and extracardiac structural anomalies, the importance of a preoperative multidisciplinary conference involving not only pediatric surgeons, pediatric cardiologists, and pediatric cardiac surgeons but also neonatologists, anesthesiologists, and nurses cannot be overemphasized.

  3. [Bronchial asthma pathogenesis and genetic prognosis development].

    PubMed

    Balmasova, I P; Sepiashvili, R I; Sepiashvili, Ia R; Malova, E S

    2014-01-01

    The review is dedicated to an actual problem--genetic prognosis of risk of bronchial asthma development that is quite a complex aspect of studies from a methodological viewpoint. Bronchial asthma--heterogeneous disease by both etiology and clinical characteristics. At the same time genetic prognosis is based on the unity of pathogenetic mechanisms of development, though in immunological reactions that are the base of this disease, alternative variants are possible. The aim of this review is carrying out parallels between modern achievements in the field of deciphering trigger mechanisms of bronchial asthma pathogenesis and object of genetic studies based on these mechanisms. Among the examined conceptions--role of epithelial tissue in trigger mechanisms of bronchial asthma, variants of key role of immune system cells, first of all, T-helpers of various types for further development of inflammatory-effector reactions with damage characteristic for this disease. Compliance of contemporary approaches of genetic studies and novel concepts of bronchial asthma pathogenesis is shown.

  4. Congenital malformation of the vaginal orifice, imperforate vagina, in the common marmoset (Callithrix jacchus).

    PubMed

    Niimi, Kimie; Oguchi, Ayaka; Nishio, Kenji; Okano, Yasushi; Takahashi, Eiki

    2015-03-01

    The following is a report on a congenital vaginal malformation, imperforate vagina, in the common marmoset (Callithrix jacchus). This anomaly was observed for the first time in an adult female in our research colony. There was no uterine and vaginal aplasia or atresia in her grossly normal genital tract. The plasma progesterone concentration suggested that the ovarian cycle had ceased. However, this may not be related to a functional anomaly, but rather to suppressed ovulation resulting from subordination to cagemates considering the various stages of follicular development observed.

  5. A Series of Congenital High Airway Obstruction Syndrome – Classic Imaging Findings

    PubMed Central

    Dey, Amit Kumar; Alam, Shah; Mittal, Kartik; Thakkar, Hemangini

    2016-01-01

    Congenital high airway obstruction syndrome (CHAOS) is a very rare entity with very poor prognosis in which upper airway is intrinsically obstructed, the most common reason being laryngeal atresia. In summary prenatal early diagnosis of patients with CHAOS is necessary so that perinatal management can be undertaken successfully or elective termination of pregnancy can be undertaken. The fetoscopic approach may be a life saving modality in a subset of CHAOS patients. Involving a multidisciplinary team comprising of paediatricians, radiologists, obstetricians and anaesthesiologists increases the efficiency of management. PMID:27134966

  6. Thrombectomy and surgical reconstruction for extensive iliocaval thrombosis in a patient with agenesis of the retrohepatic vena cava and atresia of the left renal vein.

    PubMed

    La Spada, Michele; Stilo, Francesco; Carella, Giuseppe; Salomone, Ignazio; Benedetto, Filippo; De Caridi, Giovanni; Spinelli, Francesco

    2011-08-01

    In 80% of the patients presenting with deep-venous thrombosis (DVT), a risk factor can be identified. An absent or hypoplastic infrarenal vena cava is a rare risk factor for DVT in young adults. In these cases, the prevalence of congenital anomalies of the inferior vena cava (IVC) is estimated at 0.5% of the general population, up to 5% in young people. The association with coagulopathy increases the risk of DVT. We report a case of a young man who presented with a massive caval and iliofemoral-popliteal thrombosis in presence of the agenesis of retrohepatic inferior vena cava and atresia of the left renal vein. Open thrombectomy and caval reconstruction with a polytetrafluoroethylene graft were performed. Surgical option with vein reconstruction was preferred to prevent new episodes of thrombosis and the risk of acute renal failure.

  7. Atresia of left atrioventricular orifice. Anatomical investigation in 62 cases.

    PubMed Central

    Thiene, G; Daliento, L; Frescura, C; De Tommasi, M; Macartney, F J; Anderson, R H

    1981-01-01

    Sixty-two hearts without a patent exit from the left atrium to the ventricular mass have been studied. All had situs solitus and laevocardia. The material consisted of 32 cases with coexistent aortic atresia and 30 cases with patent aortic root. Five hearts with aortic atresia were biventricular with atrioventricular concordance and imperforate left atrioventricular valves, and 27 hearts were univentricular of right ventricular type, with absent left atrioventricular connection. The anatomy of this group was uniform, with extreme hypoplasia of all the left cardiac segments. Among the cases with patent aortic root, five were biventricular, with atrioventricular concordance and imperforate left atrioventricular valves, and 24 had absent left atrioventricular connection, 15 with univentricular heart of right ventricular type and nine with univentricular heart of left ventricular type. The final heart had double inlet univentricular of left ventricular type with an imperforate left atrioventricular valve. In this second group the aorta was larger in cases with discordant ventriculoarterial connection or in those with double outlet from the main ventricular chamber. A normal sized aorta without aortic arch obstruction was observed in nine instances. These are of great interest in terms of surgical anatomy since definitive palliation may be feasible. Images PMID:7225254

  8. Pathogenesis of biliary atresia: defining biology to understand clinical phenotypes

    PubMed Central

    Asai, Akihiro; Miethke, Alexander; Bezerra, Jorge A.

    2016-01-01

    Biliary atresia is a severe cholangiopathy of early infancy that destroys extrahepatic bile ducts and disrupts bile flow. With a poorly defined disease pathogenesis, treatment consists of the surgical removal of duct remnants followed by hepatoportoenterostomy. Although this approach can improve the short-term outcome, the liver disease progresses to end-stage cirrhosis in most children. Further improvement in outcome will require a greater understanding of the mechanisms of biliary injury and fibrosis. Here, we review progress in the field, which has been fuelled by collaborative studies in larger patient cohorts and the development of cell culture and animal model systems to directly test hypotheses. Advances include the identification of phenotypic subgroups and stages of disease based on clinical, pathological and molecular features. Stronger evidence exists for viruses, toxins and gene sequence variations in the aetiology of biliary atresia, triggering a proinflammatory response that injures the duct epithelium and produces a rapidly progressive cholangiopathy. The immune response also activates the expression of type 2 cytokines that promote epithelial cell proliferation and extracellular matrix production by nonparenchymal cells. These advances provide insight into phenotype variability and might be relevant to the design of personalized trials to block progression of liver disease. PMID:26008129

  9. Mitochondrial Factors and VACTERL Association-Related Congenital Malformations

    PubMed Central

    Siebel, S.; Solomon, B.D.

    2013-01-01

    VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER association has many overlapping characteristics with other congenital disorders that involve multiple malformations. In addition to these other conditions, some of which have known molecular causes, certain aspects of VACTERL/VATER association have similarities with the manifestations of disorders caused by mitochondrial dysfunction. Mitochondrial dysfunction can result from a number of distinct causes and can clinically manifest in diverse presentations; accurate diagnosis can be challenging. Case reports of individuals with VACTERL association and confirmed mitochondrial dysfunction allude to the possibility of mitochondrial involvement in the pathogenesis of VACTERL/VATER association. Further, there is biological plausibility involving mitochondrial dysfunction as a possible etiology related to a diverse group of congenital malformations, including those seen in at least a subset of individuals with VACTERL association. PMID:23653577

  10. Pheochromocytoma complicated by cyanotic congenital heart disease: a case report

    PubMed Central

    Yamamoto, Keiko; Namba, Noriyuki; Kubota, Takuo; Usui, Takeshi; Takahashi, Kunihiko; Kitaoka, Taichi; Fujiwara, Makoto; Hori, Yumiko; Kogaki, Shigetoyo; Oue, Takaharu; Morii, Eiichi; Ozono, Keiichi

    2016-01-01

    Abstract. Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr and 11 mo with pheochromocytoma and tricuspid atresia treated by performing the Fontan surgery. The patient did not have any specific symptoms of syndrome related to pheochromoytoma or a family history of pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, and an α-blocker was administered. Catecholamine hypersecretion was observed in the blood and urine, and abdominal computed tomography revealed a tumor in the right adrenal gland. Scintigraphy showed marked accumulation of 123I-metaiodobenzylguanidine in the tumor, which led to a diagnosis of pheochromocytoma. We did not detect any germline mutations in the RET, VHL, SDHB, SDHD, TMEM127, or MAX genes. This patient had experienced mild systemic hypoxia since birth, which may have contributed to the development of pheochromocytoma. PMID:27212797

  11. Abnormal Congenital Location of Stapes' Superstructure: Clinical and Embryological Implications.

    PubMed

    Henriques, Vânia; Teles, Rafaela; Sousa, Ana; Estevão, Roberto; Rodrigues, Jorge; Gomes, Alexandra; Silva, Francisco; Fernandes, Ângelo; Fernandes, Fausto

    2016-01-01

    Congenital middle ear malformations are rare. Most part of them are usually associated with other malformations, such as aural atresia, microtia, and dysmorphic craniofacial features. A clinical case of a 24-year-old male with a right-sided conductive hearing loss since his childhood, without craniofacial malformation, is presented. He was proposed for exploratory tympanotomy under the suspicious diagnosis of otosclerosis. The surgery revealed an abnormal location of stapes' superstructure, which was attached to the promontory and had an isolated and mobile osseous footplate in the oval window. A stapes prosthesis was inserted and resulted in closure of the air-bone gap by 25 dB. A review of the literature was also performed using MEDLINE. Two theories diverge on the embryologic origin of the stapes. Our findings seem to be in favour of the theory that defines two different embryologic origins to the stapes. PMID:27648330

  12. Abnormal Congenital Location of Stapes' Superstructure: Clinical and Embryological Implications

    PubMed Central

    Teles, Rafaela; Sousa, Ana; Estevão, Roberto; Rodrigues, Jorge; Gomes, Alexandra; Silva, Francisco; Fernandes, Ângelo; Fernandes, Fausto

    2016-01-01

    Congenital middle ear malformations are rare. Most part of them are usually associated with other malformations, such as aural atresia, microtia, and dysmorphic craniofacial features. A clinical case of a 24-year-old male with a right-sided conductive hearing loss since his childhood, without craniofacial malformation, is presented. He was proposed for exploratory tympanotomy under the suspicious diagnosis of otosclerosis. The surgery revealed an abnormal location of stapes' superstructure, which was attached to the promontory and had an isolated and mobile osseous footplate in the oval window. A stapes prosthesis was inserted and resulted in closure of the air-bone gap by 25 dB. A review of the literature was also performed using MEDLINE. Two theories diverge on the embryologic origin of the stapes. Our findings seem to be in favour of the theory that defines two different embryologic origins to the stapes. PMID:27648330

  13. Abnormal Congenital Location of Stapes' Superstructure: Clinical and Embryological Implications

    PubMed Central

    Teles, Rafaela; Sousa, Ana; Estevão, Roberto; Rodrigues, Jorge; Gomes, Alexandra; Silva, Francisco; Fernandes, Ângelo; Fernandes, Fausto

    2016-01-01

    Congenital middle ear malformations are rare. Most part of them are usually associated with other malformations, such as aural atresia, microtia, and dysmorphic craniofacial features. A clinical case of a 24-year-old male with a right-sided conductive hearing loss since his childhood, without craniofacial malformation, is presented. He was proposed for exploratory tympanotomy under the suspicious diagnosis of otosclerosis. The surgery revealed an abnormal location of stapes' superstructure, which was attached to the promontory and had an isolated and mobile osseous footplate in the oval window. A stapes prosthesis was inserted and resulted in closure of the air-bone gap by 25 dB. A review of the literature was also performed using MEDLINE. Two theories diverge on the embryologic origin of the stapes. Our findings seem to be in favour of the theory that defines two different embryologic origins to the stapes.

  14. Late presentation of congenital cystic adenomatoid malformation of the lung

    SciTech Connect

    Hulnick, D.H.; Naidich, D.P.; McCauley, D.I.; Feiner, H.D.; Avitabile, A.M.; Greco, M.A.; Genieser, N.B.

    1984-06-01

    Although most often recognized in neonates and young children, congenital cystic adenomatoid malformation of the lung (CCAM) occasionally appears in later years. Three patients, aged 35, 24, and 7 years, are reported. Chest radiographs in each case suggested a localized patchy density, a cystic mass, or a multicystic mass, but computed tomography (CT) best demonstrated the cystic and solid components while ruling out bronchiectasis or major bronchial obstruction. Bronchography contributed no further diagnostic information compared with CT. Each patient underwent lobectomy. Histologically, the characteristic overgrowth of bronchiolar elements replacing normal parenchymal architecture was accompanied by some superimposed inflammatory change.

  15. Congenital myopathies: an update.

    PubMed

    Nance, Jessica R; Dowling, James J; Gibbs, Elizabeth M; Bönnemann, Carsten G

    2012-04-01

    Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological features between the classical forms and their different genetic entities suggests that there may be shared pathomechanisms between the congenital myopathies. Animal models, especially mouse and zebrafish, have been especially helpful in elucidating such pathomechanisms associated with the congenital myopathies and provide models in which future therapies can be investigated. PMID:22392505

  16. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

    ... Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital hypothyroidism is a partial or complete loss of function ...

  17. Under pressure: a contribution to the pathogenesis of acquired ileal atresia

    PubMed Central

    Houben, C H; Lo, A W I; Tsui, S Y; Chan, K W

    2013-01-01

    An acquired ileal atresia is a rare occurrence. A 3-week-old neonate is presented, who developed postnatally a type 2 ileal atresia and an ileal stenosis within a pre-existing internal hernia secondary to an adhesion band. The literature reports a total of eight cases (4 females) with acquired ileal atresia in babies ranging in age from 3 weeks to 2 years (median 4 months). Mechanical forces (eg, adhesion band, intussusception and volvulus) onto the intestine are most frequently (75%) implicated as the primary event. The distal ileum is most often affected and a type 3A atresia is identified in six of eight (75%) cases. PMID:24225736

  18. Late presentation of gastric tube ulcer perforation after oesophageal atresia repair.

    PubMed

    Hazebroek, Eric J; Hazebroek, Frans W J; Leibman, Steven; Smith, Garett S

    2008-07-01

    Ulcer formation in intrathoracic grafts after oesophageal replacement is considered an infrequent complication of the procedure. We present a rare case of a gastric tube ulcer with perforation, more than 30 years after gastric tube interposition for oesophageal atresia.

  19. Bronchial Venular Leakage During Endotoxin Shock

    PubMed Central

    Pietra, G. G.; Szidon, J. P.; Carpenter, H. A.; Fishman, A. P.

    1974-01-01

    The pulmonary effects of endotoxin shock were investigated in dogs by a combination of anatomic and physiologic technics. Shock was produced in 14 dogs by injecting Escherichia coli lipopolysaccharide intravenously. Three dogs in hypovolemic shock and 6 untreated dogs served as controls. Colloidal carbon was injected intravenously to detect sites of pathologic increase in vascular permeability. During the first hour of endotoxin shock, bronchial venules allowed carbon and blood elements to traverse their walls, whereas no leakage of these large particles or ultrastructural changes could be detected in the alveolar walls. Only after the first hour was bronchial venular leakage accompanied by focal degenerative changes in the alveolar endothelium, focal interstitial edema in the alveolar septum and sequestration of damaged leukocytes in the alveolar capillaries. In contrast to these observations in endotoxin shock, control dogs in hypovolemic shock did not show bronchial venous leakage. Our findings suggest that the leakage of bronchial venules may be involved in the pathogenesis of pulmonary interstitial edema caused by endotoxin shock. ImagesFig 2Fig 3Fig 4Fig 1 PMID:4611225

  20. Endoscopic repair of unilateral choanal atresia with the KTP laser: a one stage procedure.

    PubMed

    Tzifa, K T; Skinner, D W

    2001-04-01

    This paper, describes the endoscopic repair of unilateral choanal atresia with the KTP laser, a one-stage procedure, with no requirement for stenting. Three patients are presented with unilateral choanal atresia, aged six, nine and 38-years-old. The procedure combines the excellent endoscopic visualization, with the good haemostatic and penetrating properties of the KTP laser. Follow up was between 12 months and four years with all choanae remaining patent, no dilatation was required. No surgical complications were noted.

  1. An Unusual Case of Foreign Body Lodged in the Laryngopharynx of Neonate with Esophageal Atresia.

    PubMed

    Gupta, Rahul; Saxena, Manisha; Paul, Rozy; Gubbi, Sharan; Mathur, Praveen

    2016-01-01

    A blunt‑tipped red rubber catheter is used to confirm the presence of esophageal atresia in any newborn with drooling of saliva and frothing from the mouth. Failure to pass it beyond 10cms into the esophagus is considered diagnostic. We here in report an extremely rare case of broken tip of red rubber catheter lodged in the laryngopharynx of 2-day-old neonate of esophageal atresia with distal tracheoesophageal fistula. During endotracheal intubation foreign body was accidentally removed. PMID:26793600

  2. Gastric Duplication Cyst in Association with Duodenal Atresia in a Neonate

    PubMed Central

    Mirshemirani, Alireza; Roshanzamir, Fatollah; Razavi, Sajad; Sarafi, Mehdi

    2016-01-01

    Concurrence of duodenal atresia and gastric duplication cyst is extremely rare entity. We report a 6-day-old female neonate who presented with neonatal intestinal obstruction. X-ray abdomen showed double bubble sign. At laparotomy, a huge cystic structure attached to greater curvature of the stomach along with duodenal atresia of second part of duodenum was found. The cystic structure was excised and duodeno-duodenostomy performed. Histopathology report confirmed it gastric duplication cyst. PMID:26816679

  3. Normal exon copy number of the GLI2 and GLI3 genes in patients with esophageal atresia.

    PubMed

    Bednarczyk, D; Smigiel, R; Patkowski, D; Laczmanska, I; Lebioda, A; Laczmanski, L; Sasiadek, M M

    2013-01-01

    Esophageal atresia (EA) is a congenital developmental defect of the alimentary tract concerning the interruption of the esophagus with or without connection to the trachea. The incidence of EA is 1 in 3000-3500 of live-born infants, and occurs in both isolated and syndromic (in combination with abnormalities in other organ systems) forms. The molecular mechanisms underlying the development of EA are poorly understood. Knockout studies in mice indicate that genes like Sonic hedgehog, Gli2, and Gli3 play a role in the etiology of EA. These facts led us to hypothesize that Sonic hedgehog-GLI gene rearrangements are associated with EA in humans. To test this hypothesis, we screened patients with isolated and syndromic EA for GLI2 and/or GLI3 microrearrangements using methods to estimate the copy number (Multiplex Ligation-dependent Probe Amplification, real-time polymerase chain reaction). To our best knowledge this is the first study assessing copy number of GLI2 and GLI3 genes in patients with EA. PMID:23442119

  4. Ovarian Follicular Atresia of Ewes during Spring Puerperium

    PubMed Central

    Vlčková, Radoslava; Sopková, Drahomíra; Pošivák, Ján; Valocký, Igor

    2012-01-01

    The distribution of healthy and atretic follicles on the ovarian surface of improved Valachian ewes 17, 24, and 32 days postpartum is reported in this study. The number of healthy follicles was higher on day 24 postpartum and their mean diameter tended to increase to day 32 (P < 0.05) with the greatest diameter of 5 mm. 78–81% of atretic follicles ≥3 mm in diameter was observed where apoptosis began in the follicular cells situated at the follicular cavity. The early atretic follicles are characterized by the presence of mitotic pictures. In one ewe 24 days postpartum, small regressive follicular cysts were observed. Contracting atresia is characterized by thickening of the theca interna even to 190 μm. Progesterone and oestradiol-17β concentrations were maintained at relatively low levels, but with no significant difference between the days postpartum. PMID:22567543

  5. Biliary atresia: Will blocking inflammation tame the disease?

    PubMed Central

    Bessho, Kazuhiko; Bezerra, Jorge A.

    2014-01-01

    Biliary atresia is the most common cholangiopathy of childhood. With complete obstruction of segments or the entire length of extrahepatic bile ducts, the timely pursuit of hepatoportoenterostomy is the best strategy to restore bile drainage. However, even with prompt surgical intervention, ongoing injury of intrahepatic bile ducts and progressive cholangiopathy lead to end-stage cirrhosis. The pace of disease progression is not uniform; it may relate to clinical forms of disease and/or staging of liver pathology at diagnosis. Although the etiology of disease is not yet defined, several biological processes have been linked to pathogenic mechanisms of bile duct injury. Among them, there is increasing evidence that the immune system targets the duct epithelium and disrupts bile flow. In this review, we discuss how careful clinical phenotyping, staging of disease, and pre-clinical research give insight into response to ongoing trials and rational design of new therapies to block progression of disease. PMID:21226614

  6. Biventricular Repair of Pulmonary Atresia After Fontan Palliation.

    PubMed

    D'Souza, Travis F; Samuel, Bennett P; Hillman, Neal D; Vettukattil, Joseph J; Haw, Marcus P

    2016-04-01

    Fontan palliation is used when biventricular repair (BVR) is not possible. Early outcomes are acceptable; however, the long-term sequelae include protein-losing enteropathy, declining functional status, increased pulmonary vascular resistance, heart failure, and hepatic and renal dysfunction. These adverse events are characteristic of persistent venous hypertension and may be avoided if restoring biventricular circulation is possible. Arrhythmias are a common adverse event, particularly in patients with an atriopulmonary connection, which may lead to acute decompensation and early death. We describe a 30-year-old woman who underwent successful BVR for pulmonary atresia with intact ventricular septum and demonstrate that where favorable anatomy exists with a failing Fontan, BVR should be considered. PMID:27000578

  7. Biventricular Repair of Pulmonary Atresia After Fontan Palliation.

    PubMed

    D'Souza, Travis F; Samuel, Bennett P; Hillman, Neal D; Vettukattil, Joseph J; Haw, Marcus P

    2016-04-01

    Fontan palliation is used when biventricular repair (BVR) is not possible. Early outcomes are acceptable; however, the long-term sequelae include protein-losing enteropathy, declining functional status, increased pulmonary vascular resistance, heart failure, and hepatic and renal dysfunction. These adverse events are characteristic of persistent venous hypertension and may be avoided if restoring biventricular circulation is possible. Arrhythmias are a common adverse event, particularly in patients with an atriopulmonary connection, which may lead to acute decompensation and early death. We describe a 30-year-old woman who underwent successful BVR for pulmonary atresia with intact ventricular septum and demonstrate that where favorable anatomy exists with a failing Fontan, BVR should be considered.

  8. Analysis of bronchial reactivity in epidemiological studies.

    PubMed Central

    Abramson, M J; Saunders, N A; Hensley, M J

    1990-01-01

    The measurement of bronchial reactivity in epidemiological studies has the advantage of quantifying an objective physiological feature of asthma. Bronchial reactivity was developed in a clinical setting and has been conventionally expressed as the dose of agonist producing a 20% fall in FEV1 (PD20). As PD20 can be estimated for less than 20% of subjects in general community surveys with the doses of agonist that are usually given, data from most subjects must be censored. Thus PD20 alone is a poor index of bronchial reactivity for epidemiological studies. Data from 809 aluminium smelter workers were used to evaluate alternative methods of analysing bronchial reactivity. Dose-response relationships were analysed by four methods: (1) PD20 by the conventional method of interpolating the dose on a logarithmic scale between the last two measurements of FEV1; (2) PD20 (with allowance for extrapolation), estimated by fitting an exponential curve to the dose-response data; (3) the linear regression slope between dose and FEV1 when significant; (4) the dose-response slope obtained in all subjects as the % change in FEV1 from baseline in response to total dose. When each of these measures was related to symptoms, diagnosis, and treatment of asthma, all differentiated between "asthmatic" and "non-asthmatic" subjects. The dose-response slope (method 4) had the advantages of simplicity and no censored data, and was shown to be clinically relevant. It is suggested that the dose-response slope should be used for the analysis of bronchial reactivity in epidemiological studies. PMID:2281424

  9. Methoxychlor and its metabolites inhibit growth and induce atresia of baboon antral follicles.

    PubMed

    Gupta, Rupesh K; Aberdeen, Graham; Babus, Janice K; Albrecht, Eugene D; Flaws, Jodi A

    2007-08-01

    Methoxychlor (MXC), an organochlorine pesticide, inhibits growth and induces atresia of antral follicles in rodents. MXC metabolites, mono-OH MXC (mono-OH) and bis-OH MXC (HPTE), are thought to be more toxic than the parent compound. Although studies have examined effects of MXC in rodents, few studies have evaluated the effects of MXC in primates. Therefore, the present study tested the hypothesis that MXC, mono-OH, and HPTE inhibit growth and induce atresia of baboon antral follicles. To test this hypothesis, antral follicles were isolated from adult baboon ovaries and cultured with vehicle (dimethylsulfoxide; DMSO), MXC (1-100 micro g/ml), mono-OH (0.1-10 micro g/ml), or HPTE (0.1-10 micro g/ml) for 96 hr. Growth was monitored at 24 hr intervals. After culture, follicles were processed for histological evaluation of atresia. MXC, mono-OH, and HPTE significantly inhibited follicular growth and increased atresia compared to DMSO. Moreover, the adverse effects of MXC and its metabolites on growth and atresia in baboon antral follicles were observed at lower (100-fold) doses than those causing similar effects in rodents. These data suggest that MXC and its metabolites inhibit growth and induce atresia of baboon antral follicles, and that primate follicles are more sensitive to MXC than rodent follicles.

  10. The extended Kasai portoenterostomy for biliary atresia: A preliminary report

    PubMed Central

    Ramachandran, Priya; Safwan, Mohamed; Srinivas, Sankaranarayanan; Shanmugam, Naresh; Vij, Mukul; Rela, Mohamed

    2016-01-01

    Aims: In 1955, Professor Morio Kasai first performed a hepatic portoenterostomy. Since then, the procedure has changed the lives of children with biliary atresia (BA). We report our initial experience in performing “extended” Kasai portoenterostomy (KPE), a modification of the original procedure. Materials and Methods: Since 2013, we have used the technique of “extended KPE” and prospectively recorded data on all children undergoing this operation. Data on demographics, clinical features, liver function tests, and perioperative cholangiogram findings were collected. Outcome of KPE was measured by Jaundice Disappearance Rate (JDR) and Native Liver Survival Rate (NLSR). We present our preliminary results from a 30-month period (February 2013 to May 2015). Results: Thirty-one children underwent KPE during this period (19 males) and only 1 child had biliary atresia splenic malformation (BASM). The mean age at KPE was 73 ± 24 days. Five (16.1%) children were more than 90 days old at the time of KPE. Fourteen children cleared jaundice (JDR 45.2%). Eleven (35.5%) children developed episodes of cholangitis, of whom 8 had early cholangitis (within 3 months of the operation). The proportion of children who survived with their own liver 6 months after KPE (NLSR) was 84.2%. Of those children older than 90 days, 2 cleared jaundice and have survived with their native livers for more than 16 months. Conclusion: In our preliminary report of 31 children, we conclude that the extended KPE leads to increased jaundice clearance and improved NLSR in children with BA. PMID:27046977

  11. Glycomic analyses of ovarian follicles during development and atresia

    PubMed Central

    Hatzirodos, Nicholas; Nigro, Julie; Irving-Rodgers, Helen F.; Vashi, Aditya V.; Hummitzsch, Katja; Caterson, Bruce; Sullivan, Thomas R.; Rodgers, Raymond J.

    2012-01-01

    To examine the detailed composition of glycosaminoglycans during bovine ovarian follicular development and atresia, the specialized stromal theca layers were separated from the stratified epithelial granulosa cells of healthy (n = 6) and atretic (n = 6) follicles in each of three size ranges: small (3–5 mm), medium (6-9 mm) and large (10 mm or more) (n = 29 animals). Fluorophore-assisted carbohydrate electrophoresis analyses (on a per cell basis) and immunohistochemistry (n = 14) were undertaken. We identified the major disaccharides in thecal layers and the membrana granulosa as chondroitin sulfate-derived ∆uronic acid with 4-sulfated N-acetylgalactosamine and ∆uronic acid with 6-sulfated N-acetylgalactosamine and the heparan sulfate-derived Δuronic acid with N-acetlyglucosamine, with elevated levels in the thecal layers. Increasing follicle size and atresia was associated with increased levels of some disaccharides. We concluded that versican contains 4-sulfated N-acetylgalactosamine and it is the predominant 4-sulfated N-acetylgalactosamine proteoglycan in antral follicles. At least one other non- or 6-sulfated N-acetylgalactosamine proteoglycan(s), which is not decorin or an inter-α-trypsin inhibitor family member, is present in bovine antral follicles and associated with hitherto unknown groups of cells around some larger blood vessels. These areas stained positively for chondroitin/dermatan sulfate epitopes [antibodies 7D4, 3C5, and 4C3], similar to stem cell niches observed in other tissues. The sulfation pattern of heparan sulfate glycosaminoglycans appears uniform across follicles of different sizes and in healthy and atretic follicles. The heparan sulfate products detected in the follicles are likely to be associated with perlecan, collagen XVIII or betaglycan. PMID:22057033

  12. Congenital CMV Infection

    MedlinePlus

    ... CMV Babies Born with CMV (Congenital CMV Infection) Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir ... Detection and Intervention Helping Children With Congenital CMV Language: English Español (Spanish) File Formats Help: How do I ...

  13. Congenital heat disease

    SciTech Connect

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations.

  14. Habilitation of Patients with Congenital Malformations Associated with Thalidomide: Pediatric Aspects

    PubMed Central

    Martin, J. Kenneth; Rathbun, John C.

    1963-01-01

    Since November 1961 it became apparent that the administration of thalidomide to pregnant women was associated with the occurrence of severe congenital anomalies. These deformities are frequently symmetrical, involving the limbs, particularly the proximal part, and associated with an absent external ear, mid-line facial hemangioma with saddle nose, atresia of the bowel and other congenital anomalies. Care of these children is a complicated problem requiring a team of specialists of many disciplines, particularly a pediatrician, an orthopedic surgeon, a prosthetic specialist and a social worker. Treatment by such a team ideally would commence immediately after delivery of the infant and continue until the child has been totally habilitated. Such care ideally should be provided within existing services in the country for the habilitation and rehabilitation of handicapped children. ImagesFig. 1Fig. 2Fig. 3Fig. 4 PMID:20327524

  15. Giant congenital melanocytic nevus.

    PubMed

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion.

  16. Genetics of congenital hypothyroidism

    PubMed Central

    Park, S; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsα and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. There is also early evidence for a third group of congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae. This review focuses on the genetic aspects of primary congenital hypothyroidism. PMID:15863666

  17. Relation between the bronchial obstructive response to inhaled lipopolysaccharide and bronchial responsiveness to histamine.

    PubMed Central

    Michel, O; Ginanni, R; Sergysels, R

    1992-01-01

    BACKGROUND: Bronchoconstriction has developed after inhalation of lipopolysaccharide in a dose of 20 micrograms in asthmatic patients and of 200 micrograms in normal subjects. This study set out to determine whether the bronchial response to lipopolysaccharide was related to non-specific bronchial responsiveness and atopy. METHODS: Sixteen subjects with a fall in specific airway conductance of 40% (PD40sGaw) after inhaling up to 900 micrograms histamine inhaled 20 micrograms lipopolysaccharide (from Escherichia coli type 026:B6) a week after bronchial challenge with a control solution of saline. The bronchial response over five hours was measured as change in FEV1 and area under the FEV1-time curve. RESULTS: FEV1 fell significantly more after lipopolysaccharide than after diluent inhalation, the difference in mean (SE) FEV1 being 4.6% (5.4%); response was maximal 60 minutes after lipopolysaccharide inhalation and lasted more than five hours. Histamine PD20FEV1 and PD40sGaw correlated with the fall in FEV1 after lipopolysaccharide inhalation. There was no difference in the proportions of responders and non-responders to lipopolysaccharide who were atopic. CONCLUSION: Lipopolysaccharide induced bronchial obstruction is associated with non-specific responsiveness but not with atopy. PMID:1585294

  18. Fecundity regulation by atresia in turbot Scophthalmus maximus in the Baltic Sea.

    PubMed

    Nissling, A; Thorsen, A; da Silva, F F G

    2016-04-01

    Down-regulation of fecundity through oocyte resorption was assessed in Baltic Sea turbot Scophthalmus maximus at three locations in the period from late vitellogenesis in April to spawning during June to July. The mean ± s.d. total length of the sampled fish was 32.7 ± 3.1 cm and mean ± s.d. age was 6.2 ± 1.5 years. Measurements of atresia were performed using the 'profile method' with the intensity of atresia adjusted according to the 'dissector method' (10.6% adjustment; coefficient of determination was 0.675 between methods). Both prevalence (portion of fish with atresia) and intensity (calculated as the average proportion of atretic cells in fish displaying atresia) of atresia were low in prespawning fish, but high from onset of spawning throughout the spawning period. Atretic oocytes categorized as in early alpha and in late alpha state occurred irrespective of maturity stage from late prespawning individuals up to late spawning fish, showing that oocytes may become atretic throughout the spawning period. Observed prevalence of atresia throughout the spawning period was almost 40% with an intensity of c. 20%. This indicates extensive down-regulation, i.e. considerably lower realized (number of eggs spawned) v. potential fecundity (number of developing oocytes), suggesting significant variability in reproductive potential. The extent of fecundity regulation in relation to fish condition (Fulton's condition factor) is discussed, suggesting an association between levels of atresia and fish condition. PMID:26928526

  19. Passive smoking. Effects on bronchial asthma.

    PubMed

    Dahms, T E; Bolin, J F; Slavin, R G

    1981-11-01

    Ten patients with bronchial asthma and ten control subjects were exposed to sidestream cigarette smoke (passive smoking) for one hour in an environmental chamber. All subjects showed the same increase in carboxyhemoglobin as a result of the exposure: 0.40 percent. The asthmatic group demonstrated a significant linear decrease in pulmonary function during this exposure. After one hour of smoke, FEV1 decreased 21.4 percent, FEF25-75% decreased 19.2 percent, and FVC decreased 20.0 percent in the asthmatic patients. These alterations were readily reversible in all subjects when given inhalations of metaproterenol following the exposure. The control subjects showed no change in pulmonary function when exposed to identical conditions. These data show that nonsmokers with bronchial asthma are at risk when exposed to sidestream cigarette smoke in an environmental chamber. PMID:7297141

  20. [The mechanical properties of the lungs in patients with congenital heart defects in the immediate postoperative period].

    PubMed

    Zatevakhina, M V; Nikitin, E S; Tskhovrebov, S V; Makrushin, I M; Suvorova, G Iu; Safonova, E M

    1998-01-01

    Static compliance and inspiratory resistance were assessed in 218 patients aged over 3 years after open-heart surgery for correction of congenital heart disease during the immediate postoperative period without complications. Cst in the immediate postoperative period in patients with Fallot's tetralogy, intraventricular septum defect, intraatrial septum defect, and incomplete form of atrioventricular communication was higher than in patients operated on for Fallot's tetralogy with a previous systemic-pulmonary anastomosis and pulmonary artery atresia, whereas Rinsp was virtually the same in all groups. Age-specific differences were noted. The data are recommended for use as reference values in stress. PMID:9770809

  1. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.

    PubMed

    Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar

    2015-10-01

    Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case. PMID:26655010

  2. Confocal fluorescence microendoscopy of bronchial epithelium

    NASA Astrophysics Data System (ADS)

    Lane, Pierre M.; Lam, Stephen; McWilliams, Annette; Leriche, Jean C.; Anderson, Marshall W.; Macaulay, Calum E.

    2009-03-01

    Confocal microendoscopy permits the acquisition of high-resolution real-time confocal images of bronchial mucosa via the instrument channel of an endoscope. We report here on the construction and validation of a confocal fluorescence microendoscope and its use to acquire images of bronchial epithelium in vivo. Our objective is to develop an imaging method that can distinguish preneoplastic lesions from normal epithelium to enable us to study the natural history of these lesions and the efficacy of chemopreventive agents without biopsy removal of the lesion that can introduce a spontaneous regression bias. The instrument employs a laser-scanning engine and bronchoscope-compatible confocal probe consisting of a fiber-optic image guide and a graded-index objective lens. We assessed the potential of topical application of physiological pH cresyl violet (CV) as a fluorescence contrast-enhancing agent for the visualization of tissue morphology. Images acquired ex vivo with the confocal microendoscope were first compared with a bench-top confocal fluorescence microscope and conventional histology. Confocal images from five sites topically stained with CV were then acquired in vivo from high-risk smokers and compared to hematoxylin and eosin stained sections of biopsies taken from the same site. Sufficient contrast in the confocal imagery was obtained to identify cells in the bronchial epithelium. However, further improvements in the miniature objective lens are required to provide sufficient axial resolution for accurate classification of preneoplastic lesions.

  3. Giant congenital nevus

    MedlinePlus

    ... pigmented nevus; Giant hairy nevus; Giant pigmented nevus; Bathing trunk nevus; Congenital melanocytic nevus - large ... baby grows in the womb. In some families bathing trunk nevi may be inherited. The condition may ...

  4. Adult Congenital Heart Association

    MedlinePlus

    ... survivable, manageable, yet in the routine years between infancy and adulthood, sometimes forgettable. The Adult Congenital Heart ... understand the continuum of the disease from its infancy. The Adult Congential Heart Association brings together valuable ...

  5. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  6. Congenital platelet function defects

    MedlinePlus

    Platelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... disorder may also cause severe bleeding. Platelet storage pool disorder (also called platelet secretion disorder) occurs when ...

  7. Congenital heart disease

    MedlinePlus

    ... about genetic counseling and screening if you have a family history of cogenital heart disease. ... Fraser CD, Carberry KE. Congenital heart disease. In: Townsend CM ... Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: ...

  8. Right atrial outlet atresia with straddling left atrioventricular valve. A form of double outlet atrium.

    PubMed Central

    Coto, E O; Calabro, R; Marsico, F; Lopez Arranz, J S

    1981-01-01

    We present three hearts showing right atrial outlet atresia with straddling left atrioventricular valve; clinical data of two of the patients are reported. For semantic and practical reasons we believe the terms tricuspid or mitral atresia should not be used in these cases, and atrial outlet atresia is preferable; for similar reasons we prefer to use stradding left or right atrioventricular valve. These anomalies represent an interesting form of double outlet atrium and diagnosis clinically may be possible if the existence of the anomaly is considered. Differentiation from common atrioventricular canal with atrial outlet atresia is important since total repair, which is possible for this last anomaly, does not seem feasible in cases like ours. Classifications of tricuspid atresia may have to be enlarged to include cases with double outlet from either ventricular chamber or anatomically corrected malposition. Characterisation of the right ventricular chamber is difficult; we believe that description of its morphology and the type and mode of its connections should be used. Images PMID:7470345

  9. The Sea Lamprey as an Etiological Model for Biliary Atresia

    PubMed Central

    Chung-Davidson, Yu-Wen; Yeh, Chu-Yin; Li, Weiming

    2015-01-01

    Biliary atresia (BA) is a progressive, inflammatory, and fibrosclerosing cholangiopathy in infants that results in obstruction of both extrahepatic and intrahepatic bile ducts. It is the most common cause for pediatric liver transplantation. In contrast, the sea lamprey undergoes developmental BA with transient cholestasis and fibrosis during metamorphosis, but emerges as a fecund adult with steatohepatitis and fibrosis in the liver. In this paper, we present new histological evidence and compare the sea lamprey to existing animal models to highlight the advantages and possible limitations of using the sea lamprey to study the etiology and compensatory mechanisms of BA and other liver diseases. Understanding the signaling factors and genetic networks underlying lamprey BA can provide insights into BA etiology and possible targets to prevent biliary degeneration and to clear fibrosis. In addition, information from lamprey BA can be used to develop adjunct treatments for patients awaiting or receiving surgical treatments. Furthermore, the cholestatic adult lamprey has unique adaptive mechanisms that can be used to explore potential treatments for cholestasis and nonalcoholic steatohepatitis (NASH). PMID:26101777

  10. Brain abscess in hepatopulmonary syndrome associated with biliary atresia.

    PubMed

    Morita, Keiichi; Fukuzawa, Hiroaki; Maeda, Kosaku

    2015-12-01

    The first-choice therapy for biliary atresia (BA) is Kasai hepatoportoenterostomy, which has been shown to greatly improve outcome. Various long-term complications, however, such as portal hypertension and hepatopulmonary syndrome (HPS), can occur in patients with native liver. A rare case of brain abscess in an 11-year-old girl with HPS associated with BA is reported. The patient underwent hepatoportoenterostomy for BA at 53 days of age, with resolution of hyperbilirubinemia. At 10 years of age, she was diagnosed with severe HPS with right-to-left shunting, and preparations for liver transplantation proceeded. Three months after the diagnosis, she had a right parietal brain abscess. Given that the brain abscess enlarged in size, surgical drainage of the brain abscess was performed. The postoperative course was uneventful, but a slight left hemiplegia remained at discharge. The presumed mechanism of abscess formation in HPS may be right-to-left bacterial transit through intrapulmonary vascular dilatations and/or arteriovenous fistulae. PMID:26711920

  11. Transjugular Intrahepatic Portosystemic Shunts in Children with Biliary Atresia

    SciTech Connect

    Huppert, Peter E.; Goffette, Pierre; Sokal, Emil M.; Schweizer, Paul; Claussen, Claus D.

    2002-12-15

    Purpose: We retrospectively evaluated the technical and long-term clinical results of transjugularintrahepatic portosystemic shunts (TIPS) in children with portal hypertension and biliary atresia (BA). Methods: Nine children with BA and recurrent bleeding from esophagogastric and/or intestinal varices were treated by TIPS at the age of 34-156 months and followed-up in two centers. Different types of stents were used. Results: Shunt insertion succeeded in all patients, but in two a second procedure was necessary. Seven procedures lasted more than 3 hr, mainly due to difficult portal vein puncture.Variceal bleeding ceased in all patients; however, 16 reinterventions were performed in eight patients for clinical reasons (n =11) and sonographically suspected restenosis (n =5). Four patients underwent successful liver transplantation 4-51 months after TIPS and five are in good clinical conditions 64-75 months after TIPS. Conclusions: TIPS in children with BA is technically difficult, mainly due to periportal fibrosis and small portal veins. Frequency of reinterventions seems to be higher compared with adults.

  12. Methoxychlor induces atresia by altering Bcl2 factors and inducing caspase activity in mouse ovarian antral follicles in vitro.

    PubMed

    Basavarajappa, Mallikarjuna S; Karman, Bethany N; Wang, Wei; Gupta, Rupesh K; Flaws, Jodi A

    2012-12-01

    Methoxychlor (MXC) is an organochlorine pesticide widely used in many countries against various species of insects that attack crops and domestic animals. MXC reduces fertility by increasing atresia (death) of antral follicles in vivo. MXC also induces atresia of antral follicles after 96 h in vitro. The current work tested the hypothesis that MXC induces morphological atresia at early time points (24 and 48 h) by altering pro-apoptotic (Bax, Bok, Casp3, and caspase activity) and anti-apoptotic (Bcl2 and Bcl-xL) factors in the follicles. The results indicate that at 24 h, MXC increased Bcl-xL and Bax mRNA levels and increased the ratio of Bax/Bcl2. At 48-96 h, MXC induced morphological atresia. At 24-96 h, MXC increased caspase activities. These data suggest that MXC may induce atresia by altering Bcl2 factors and inducing caspase activities in antral follicles.

  13. Sudden fetal death associated with both duodenal atresia and umbilical cord ulcer: a case report and review.

    PubMed

    Anami, Ai; Morokuma, Seiichi; Tsukimori, Kiyomi; Kondo, Haruhiko; Nozaki, Masahiro; Sueishi, Katsuo; Nakano, Hitoo

    2006-04-01

    We encountered one case of duodenal atresia complicated by massive intrauterine hemorrhage due to the perforation of an umbilical cord ulceration (UCU). UCU is an extremely rare complication in the perinatal period. Although the prenatal diagnosis of upper intestinal atresia has been established, little is known about the association between UCU and upper intestinal atresia. In this article, we report our case, review past articles, and discuss the underlying pathophysiological mechanisms of the cause of an UCU. Given the characteristic sites of upper intestinal atresia, we speculate that regurgitation of gastric or intestinal juice into the amniotic fluid could be responsible for the development of UCU. We also believe that close observation is required for patients who have upper intestinal atresia.

  14. Anaesthetic Management of a Patient with Synchronous Kartagener Syndrome and Biliary Atresia

    PubMed Central

    Kendigelen, Pınar; Tütüncü, Ayşe Çiğdem; Erbabacan, Şafak Emre; Kaya, Güner; Altındaş, Fatiş

    2015-01-01

    Kartagener syndrome is an autosomal recessive disorder characterized by primary ciliary dyskinesia accompanied by sinusitis, bronchiectasis, and situs inversus. Synchronous extrahepatic biliary atresia and Kartagener syndrome are very rare. During the preoperative preparation of patients with Kartagener syndrome, special attention is required for the respiratory and cardiovascular system. It is important to provide suitable anaesthetic management to avoid problems because of ciliary dysfunction in the perioperative period. Further, maintaining an effective pain control with regional anaesthetic methods reduces the risk of pulmonary complications. Infants with biliary atresia operated earlier have a higher chance of survival. Hepatic dysfunction and decrease in plasma proteins are important for the kinetics of drugs. In this presentation, the anaesthetic management of patients with synchronous Kartagener syndrome and biliary atresia, both of which are rare diseases, is evaluated. PMID:27366497

  15. Anaesthetic Management of a Patient with Synchronous Kartagener Syndrome and Biliary Atresia.

    PubMed

    Kendigelen, Pınar; Tütüncü, Ayşe Çiğdem; Erbabacan, Şafak Emre; Kaya, Güner; Altındaş, Fatiş

    2015-06-01

    Kartagener syndrome is an autosomal recessive disorder characterized by primary ciliary dyskinesia accompanied by sinusitis, bronchiectasis, and situs inversus. Synchronous extrahepatic biliary atresia and Kartagener syndrome are very rare. During the preoperative preparation of patients with Kartagener syndrome, special attention is required for the respiratory and cardiovascular system. It is important to provide suitable anaesthetic management to avoid problems because of ciliary dysfunction in the perioperative period. Further, maintaining an effective pain control with regional anaesthetic methods reduces the risk of pulmonary complications. Infants with biliary atresia operated earlier have a higher chance of survival. Hepatic dysfunction and decrease in plasma proteins are important for the kinetics of drugs. In this presentation, the anaesthetic management of patients with synchronous Kartagener syndrome and biliary atresia, both of which are rare diseases, is evaluated. PMID:27366497

  16. Scanning electron microscopic changes in granulosa cells during follicular atresia in Caprine ovary.

    PubMed

    Bhardwaj, J K; Sharma, R K

    2011-01-01

    During this study, topographic changes in healthy and atretic granulosa cells have been investigated during follicular atresia in goat ovary. Under scanning electron microscopy atresia was marked by asymmetrical shrinkage and vacuolization of cytoplasm. The specific topographical alterations observed in atretic cells were loss of micro extensions, disruption of cell-cell interaction, and smooth-textured membrane with a number of uneven depressions and ruffles. Some portions of the cell membrane were marked by extensive shrinkage due to condensation of cytosol. Irregular membrane at occasions was studded with blunt microextensions. The findings of present investigation will help in understanding the cellular changes in granulosa cells during follicular atresia and will find applications in screening of follicles for in vitro culture, in vitro fertilization and Embryo transfer technology. PMID:21254113

  17. Methoxychlor inhibits growth and induces atresia of antral follicles through an oxidative stress pathway.

    PubMed

    Gupta, Rupesh K; Miller, Kimberly P; Babus, Janice K; Flaws, Jodi A

    2006-10-01

    The mammalian ovary contains antral follicles, which are responsible for the synthesis and secretion of hormones that regulate estrous cyclicity and fertility. The organochlorine pesticide methoxychlor (MXC) causes atresia (follicle death via apoptosis) of antral follicles, but little is known about the mechanisms by which MXC does so. Oxidative stress is known to cause apoptosis in nonreproductive and reproductive tissues. Thus, we tested the hypothesis that MXC inhibits growth and induces atresia of antral follicles through an oxidative stress pathway. To test this hypothesis, antral follicles isolated from 39-day-old CD-1 mice were cultured with vehicle control (dimethylsulfoxide [DMSO]), MXC (1-100 microg/ml), or MXC + the antioxidant N-acetyl cysteine (NAC) (0.1-10 mM). During culture, growth was monitored daily. At the end of culture, follicles were processed for quantitative real-time polymerase chain reaction of Cu/Zn superoxide dismutase (SOD1), glutathione peroxidase (GPX), and catalase (CAT) mRNA expression or for histological evaluation of atresia. The results indicate that exposure to MXC (1-100 microg/ml) inhibited growth of follicles compared to DMSO controls and that NAC (1-10 mM) blocked the ability of MXC to inhibit growth. MXC induced follicular atresia, whereas NAC (1-10 mM) blocked the ability of MXC to induce atresia. In addition, MXC reduced the expression of SOD1, GPX, and CAT, whereas NAC reduced the effects of MXC on their expression. Collectively, these data indicate MXC causes slow growth and increased atresia by inducing oxidative stress.

  18. microRNA-222 modulates liver fibrosis in a murine model of biliary atresia

    SciTech Connect

    Shen, Wen-jun; Dong, Rui; Chen, Gong Zheng, Shan

    2014-03-28

    Highlights: • The RRV infected group showed cholestasis, retardation and extrahepatic biliary atresia. • miR-222 was highly expressed, and PPP2R2A was inhibited in the murine biliary atresia model. • miR-222 profoundly modulated the process of fibrosis in the murine biliary atresia model. • miR-222 might represent a potential target for improving biliary atresia prognosis. - Abstract: microRNA-222 (miR-222) has been shown to initiate the activation of hepatic stellate cells, which plays an important role in the pathogenesis of liver fibrosis. The aim of our study was to evaluate the role of miR-22 in a mouse model of biliary atresia (BA) induced by Rhesus Rotavirus (RRV) infection. New-born Balb/c mice were randomized into control and RRV infected groups. The extrahepatic bile ducts were evaluated. The experimental group was divided into BA group and negative group based on histology. The expression of miR-222, protein phosphatase 2 regulatory subunit B alpha (PPP2R2A), proliferating cell nuclear antigen (PCNA) and phospho-Akt were detected. We found that the experimental group showed signs of cholestasis, retardation and extrahepatic biliary atresia. No abnormalities were found in the control group. In the BA group, miR-222, PCNA and Akt were highly expressed, and PPP2R2A expression was significantly inhibited. Our findings suggest that miR-222 profoundly modulated the process of fibrosis in the murine BA model, which might represent a potential target for improving BA prognosis.

  19. Congenital duodenal obstruction with delayed presentation: seven years of experience

    PubMed Central

    Karami, Hasan; Saneian, Hossein

    2016-01-01

    Introduction The duodenum is the most common site for congenital intestinal obstruction. The duodenal web with a central hole can present without any overt signs of obstruction at a later age. Material and methods Over a 7-year period, children with congenital intestinal obstruction were identified in this study. The complications and operative findings of patients with duodenal web with conditions such as wind sock deformity and delayed diagnosis were evaluated in this study. Results This study included 81 infants with congenital intestinal obstruction. At operation, 48 patients demonstrated duodenal obstruction with atresia in 27, annular pancreas in 15 and malrotation in 6. Also, we observed incomplete obstruction of the duodenum due to a fenestrated web in 8 patients. The age of these patients at operation time ranged from 5 days to 72 months. Fifty percent of affected patients were associated with trisomy 21, all of whom exhibited failure to thrive due to food intolerance. The patients older than 2 years presented with major complications of gastroesophageal reflux such as esophageal ulcer, stricture and dysphagia. Additionally we had a unique case of a patient who had been referred with an epigastric mass. During the operation, we found 440 seeds of various fruits in the stomach and the first portion of the duodenum. Conclusions Our study emphasizes that duodenal web with a central hole can present without signs of obstruction at a later age with only failure to thrive and food intolerance. Therefore a high index of suspicion is necessary for diagnosis when it presents beyond the usual age. PMID:27695493

  20. Bronchial Aneurysms Mimicking Aortic Aneurysms: Endovascular Treatment in Two Patients

    SciTech Connect

    Vernhet, Helene; Bousquet, Claudine; Jean, Betty; Lesnik, Alvian; Durand, Gerard; Giron, Jacques; Senac, Jean Paul

    1999-05-15

    Bronchial artery dilatation and aneurysm formation is a potential complication of local inflammation, especially in bronchiectasis. When the bronchial artery has an ectopic origin from the inferior segment of the aortic arch, aneurysms may mimick aortic aneurysms. Despite this particular location, endovascular treatment is possible. We report two such aneurysms that were successfully embolized with steel coils.

  1. Humans, Mice, and Mechanisms of Intestinal Atresias: A Window into Understanding Early Intestinal Development

    PubMed Central

    Nichol, Peter F.; Reeder, Amy; Botham, Robert

    2012-01-01

    Introduction Intestinal atresias have long been hypothesized to result from either failure of recanalization of the intestinal lumen or in utero vascular accidents. Recent work in animal models is now calling for a reassessment of these widely held paradigms. Purpose In this review, we will examine the data that led to the original hypotheses and then evaluate more recent work challenging these hypotheses. Furthermore, we will discuss how defining the mechanism of atresia formation in animal models may provide insight into early intestinal development and the mechanism of lengthwise intestinal growth. Conclusion Such insight will be critical in developing regenerative therapies for patients with intestinal failure. PMID:21116726

  2. Idiopathic neonatal hepatitis or extrahepatic biliary atresia? The role of liver biopsy.

    PubMed

    Kheir, Abdelmoneim Em; Ahmed, Wisal Ma; Gaber, Israa; Gafer, Sara Ma; Yousif, Badreldin M

    2016-01-01

    Cholestasis in early infancy represents a diagnostic dilemma and most of these infants suffer either from extrahepatic biliary atresia or idiopathic neonatal hepatitis. Differentiation between the two conditions may be extremely difficult both clinically and biochemically, and a diagnostic liver biopsy is usually required. We report on a Sudanese infant who presented at the age of 4 weeks with prolonged cholestatic jaundice, abdominal ultrasound was inconclusive, HIDA scan was suggestive of extrahepatic biliary atresia and the diagnosis of idiopathic neonatal hepatitis was only reached by liver biopsy. The infant made full recovery on supportive treatment during a one year follow up period. PMID:27651555

  3. Idiopathic neonatal hepatitis or extrahepatic biliary atresia? The role of liver biopsy

    PubMed Central

    Ahmed, Wisal MA; Gaber, Israa; Gafer, Sara MA; Yousif, Badreldin M

    2016-01-01

    Cholestasis in early infancy represents a diagnostic dilemma and most of these infants suffer either from extrahepatic biliary atresia or idiopathic neonatal hepatitis. Differentiation between the two conditions may be extremely difficult both clinically and biochemically, and a diagnostic liver biopsy is usually required. We report on a Sudanese infant who presented at the age of 4 weeks with prolonged cholestatic jaundice, abdominal ultrasound was inconclusive, HIDA scan was suggestive of extrahepatic biliary atresia and the diagnosis of idiopathic neonatal hepatitis was only reached by liver biopsy. The infant made full recovery on supportive treatment during a one year follow up period. PMID:27651555

  4. Genetics of Congenital Cataract.

    PubMed

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

  5. Congenital Vascular Anomalies.

    PubMed

    Gravereaux, Edwin C.; Nguyen, Louis L.; Cunningham, Leslie D.

    2004-04-01

    Congenital vascular anomalies are rare. The cardiovascular specialist should nevertheless be aware of the more common types of vascular anomalies and understand the implications for patient treatment and the likelihood of associated morbidity. The presentation of congenital arteriovenous malformations can range from asymptomatic or cosmetic lesions, to those causing ischemia, ulceration, hemorrhage, or high-output congestive heart failure. Treatment of large, symptomatic arteriovenous malformations often requires catheter-directed embolization prior to the attempt at complete surgical excision. Later recurrence, due to collateral recruitment, is frequent. Graded compression stockings and leg elevation are the mainstays of treatment for the predominantly venous congenital vascular anomalies. Most congenital central venous disorders are clinically silent. An exception is the retrocaval ureter. Retroaortic left renal vein, circumaortic venous ring, and absent, left-sided or duplicated inferior vena cava are relevant when aortic or inferior vena cava procedures are planned. The treatment of the venous disorders is directed at prevention or management of symptoms. Persistent sciatic artery, popliteal entrapment syndrome, and aberrant right subclavian artery origin are congenital anomalies that are typically symptomatic at presentation. Because they mimic more common diseases, diagnosis is frequently delayed. Delay can result in significant morbidity for the patient. Failure to make the diagnosis of persistent sciatic artery and popliteal entrapment can result in critical limb ischemia and subsequent amputation. Unrecognized aberrant right subclavian artery origin associated with aneurysmal degeneration can rupture and result in death. The treatment options for large-vessel arterial anomalies are surgical, sometimes in combination with endovascular techniques.

  6. Incidental bronchial injury by soft coagulation.

    PubMed

    Shibano, Tomoki; Endo, Shunsuke; Otani, Shinichi; Nakano, Tomoyuki

    2015-08-01

    Soft coagulation is a hemostat system of electrosurgical units, which automatically regulates its output voltage below 200 V, to avoid excessive output that causes carbonization of the target tissue. However, this new minimally invasive technology still has the potential risk of tissue damage during surgery. We encountered three patients with bronchial injury caused by the above system; one of whom had bronchopleural fistula. This is believed to be the first report emphasizing the adverse effects of the soft coagulation system in thoracic surgery, giving a warning to the application of this convenient device. PMID:26380775

  7. Pneumothorax as atypical presentation of bronchial carcinoid.

    PubMed

    Madrid-Carbajal, Claudia J; García-Clemente, Marta M; Gutiérrez-Rodríguez, Margarita; Pando-Sandoval, Ana; Alvarez-Santín, Laura; Casan-Clarà, Pere

    2013-12-01

    We present a case of pneumothorax associated with an endobronchial carcinoid tumor in a 18-year-old man with dyspnea and chest pain. Additional tests were done, identifying in the chest roentgenogram a complete left pneumothorax with persistent leak, which was confirmed by computed tomography of the chest, and also finding an endobronchial lesion that limited the complete reexpansion of the left lung. Surgical excision was performed, and the lesion was identified as a typical bronchial carcinoid, with satisfactory outcome after the intervention. PMID:24296189

  8. Bronchial carcinoma in a young Negro

    PubMed Central

    Kidner, P. H.; Williams, H. O.

    1969-01-01

    A case of bronchial carcinoma occurring in a young Negro is described. The incidence of the condition in the Negro race is reviewed. Although it is apparently rare in the native African, it is much more common in the American of Negro stock. Two factors are suggested as being responsible for this—increasing longevity and increasing contact with external carcinogens, of which the most likely is cigarette smoke. Available evidence indicates that the disease is, as yet, rare in the British Negro but may be expected to rise following the pattern in the United States. PMID:5795650

  9. Pneumothorax as atypical presentation of bronchial carcinoid.

    PubMed

    Madrid-Carbajal, Claudia J; García-Clemente, Marta M; Gutiérrez-Rodríguez, Margarita; Pando-Sandoval, Ana; Alvarez-Santín, Laura; Casan-Clarà, Pere

    2013-12-01

    We present a case of pneumothorax associated with an endobronchial carcinoid tumor in a 18-year-old man with dyspnea and chest pain. Additional tests were done, identifying in the chest roentgenogram a complete left pneumothorax with persistent leak, which was confirmed by computed tomography of the chest, and also finding an endobronchial lesion that limited the complete reexpansion of the left lung. Surgical excision was performed, and the lesion was identified as a typical bronchial carcinoid, with satisfactory outcome after the intervention.

  10. Neglected foreign body aspiration mimicking bronchial carcinoma.

    PubMed

    Afghani, Reza; Khandashpour Ghomi, Mahmoud; Khandoozi, Seyed Reza; Yari, Behrouz

    2016-07-01

    Foreign body aspiration can occur in any age group, but it is more commonly seen in children. In adults, there is usually a predisposing condition that poses a risk of aspiration. If aspiration occurs, prompt diagnosis and extraction of the foreign body is needed to prevent early and late complications. We report a rare case of neglected foreign body aspiration in a 45-year-old schizophrenic opium addicted patient, which resulted in an occlusive lesion in the bronchus, mimicking bronchial carcinoma. PMID:27273232

  11. [100 cases of bronchial mechanical sutures].

    PubMed

    Paolini, A; Lepore, M; Riccardelli, F; Canuti, W; Caminiti, A; Mucci, M; Ruggieri, M

    1990-03-01

    The Authors report their experience with stapler model T.A. 30 in lung resections; 100 stapled sutures were carried out in the IV Surgical Department of the University "La Sapienza" of Rome, during the period 1980-88. The use of stapler with two rows of staples allows a secure closure of the bronchial stump. Moreover, it prevents granulomas caused by suture material. The bronchopleural fistulas, serious complications of manual suturing, did not occur. Finally, this method is simpler and rapidly feasible in comparison with classic ones.

  12. Adults with Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Web Booklet: Adults With Congenital Heart Defects Updated:Apr ... topic from the list below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: ...

  13. Incremental Value of MR Cholangiopancreatography in Diagnosis of Biliary Atresia

    PubMed Central

    Sung, Siyoun; Jeon, Tae Yeon; Yoo, So-Young; Hwang, Sook Min; Choi, Young Hun; Kim, Woo Sun; Choe, Yon Ho; Kim, Ji Hye

    2016-01-01

    Purpose To evaluate the incremental value of a combination of magnetic resonance cholangiopancreatography (MRCP) and ultrasonography (US), compared to US alone, for diagnosing biliary atresia (BA) in neonates and young infants with cholestasis. Materials and Methods The institutional review board approved this retrospective study. The US and MRCP studies were both performed on 64 neonates and young infants with BA (n = 41) or without BA (non-BA) (n = 23). Two observers reviewed independently the US alone set and the combined US and MRCP set, and graded them using a five-point scale. Diagnostic performance was compared using pairwise comparison of the receiver operating characteristics (ROC) curve. The sensitivity, specificity, accuracy, positive predictive value (PPV), and negative predictive value were assessed. Results The diagnostic performance (the area under the ROC curve [Az]) for diagnosing BA improved significantly after additional review of MRCP images; Az improved from 0.688 to 0.901 (P = .015) for observer 1 and from 0.676 to 0.901 (P = .011) for observer 2. The accuracy of MRCP combined with US (observer 1, 95% [61/64]; observer 2 92% [59/64]) and PPV (observer 1, 95% [40/42]; observer 2 91% [40/44]) were significantly higher than those of US alone for both observers (accuracy: observer 1, 73% [47/64], P = 0.003; observer 2, 72% [46/64], P = 0.004; PPV: observer 1, 76% [35/46], P = 0.016; observer 2, 76% [34/45], P = 0.013). Interobserver agreement of confidence levels was good for US alone (ĸ = 0.658, P < .001) and was excellent for the combined set of US and MRCP (ĸ = 0.929, P < .001). Conclusion Better diagnostic performance was achieved with the combination of US and MRCP than with US alone for the evaluation of BA in neonates and young infants with cholestasis. PMID:27341698

  14. Management of patients with pulmonary atresia, ventricular septal defect, hypoplastic pulmonary arteries and major aorto-pulmonary collaterals: Focus on the strategy of rehabilitation of the native pulmonary arteries.

    PubMed

    Fouilloux, Virginie; Bonello, Béatrice; Kammache, Issam; Fraisse, Alain; Macé, Loïc; Kreitmann, Bernard

    2012-12-01

    Pulmonary atresia with ventricular septal defect (VSD), hypoplastic native pulmonary arteries (PAs) and major aorto-pulmonary collateral arteries (MAPCAs) is a rare and complex congenital cardiac disease. In broad outline, two surgical approaches are available for patients with this condition. The first is characterized by one or several stages of complete unifocalization of the supplying MAPCAs, with or without incorporation of the native pulmonary arteries (PAs), connection of the right ventricle to the 'neo-Pas' and, if possible, concomitant or delayed closure of the VSD. The second strategy is based on rehabilitation of the native pulmonary arteries. The first step is a direct right ventricle to native PA connection, to promote the growth of native PAs. The establishment of antegrade flow also allows an easier approach for interventional catheterization, enabling dilatation or stenting of the stenosis and then closure of the communicant collaterals. When the development of the native PAs is satisfactory, the complete repair is performed. If it is necessary to suture a MAPCA to the PA ('unifocalization'), this is accomplished by connecting the collateral artery to an already developed native branch. Our team developed this multidisciplinary strategy with good results. Based on this experience as well as on the published literature, we describe this strategy of management of patients with pulmonary atresia, VSD, hypoplastic pulmonary arteries and major aorto-pulmonary collaterals (MAPCAs). PMID:23199622

  15. Congenital tracheobronchial stenosis.

    PubMed

    Hewitt, Richard J; Butler, Colin R; Maughan, Elizabeth F; Elliott, Martin J

    2016-06-01

    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. PMID:27301600

  16. Usefulness of intraoperative bronchoscopy during surgical repair of a congenital cardiac anomaly with possible airway obstruction: three cases report.

    PubMed

    Oh, JongEun; Kim, Jung-Won; Shin, Won-Jung; Gwak, Mijeung; Park, Pyung Hwan

    2016-02-01

    Compression of the airway is relatively common in pediatric patients, although it is often an unrecognized complication of congenital cardiac and aortic arch anomalies. Aortopexy has been established as a surgical treatment for tracheobronchial obstruction associated with vascular anomaly, aortic arch anomaly, esophageal atresia, and tracheoesophageal fistula. The tissue-to-tissue arch repair technique could result in severe airway complication such as compression of the left main bronchus which was not a problem before the correction. We report three cases of corrective open heart surgery monitored by intraoperative bronchoscopy performed during prebypass, and performed immediately before weaning from bypass, to evaluate tracheobronchial obstruction caused by congenital, complex cardiac anomalies in the operating room. PMID:26885306

  17. Usefulness of intraoperative bronchoscopy during surgical repair of a congenital cardiac anomaly with possible airway obstruction: three cases report

    PubMed Central

    Oh, JongEun; Kim, Jung-won; Shin, Won-Jung; Park, Pyung Hwan

    2016-01-01

    Compression of the airway is relatively common in pediatric patients, although it is often an unrecognized complication of congenital cardiac and aortic arch anomalies. Aortopexy has been established as a surgical treatment for tracheobronchial obstruction associated with vascular anomaly, aortic arch anomaly, esophageal atresia, and tracheoesophageal fistula. The tissue-to-tissue arch repair technique could result in severe airway complication such as compression of the left main bronchus which was not a problem before the correction. We report three cases of corrective open heart surgery monitored by intraoperative bronchoscopy performed during prebypass, and performed immediately before weaning from bypass, to evaluate tracheobronchial obstruction caused by congenital, complex cardiac anomalies in the operating room. PMID:26885306

  18. Congenital muscular torticollis.

    PubMed

    Nilesh, Kumar; Mukherji, Srijon

    2013-07-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical release of the involved SCM followed by physiotherapy.

  19. Congenital muscular torticollis

    PubMed Central

    Nilesh, Kumar; Mukherji, Srijon

    2013-01-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical release of the involved SCM followed by physiotherapy. PMID:24205484

  20. Congenital Adrenal Hyperplasia

    PubMed Central

    Speiser, Phyllis W.

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management. PMID:26339484

  1. Ovarian follicular atresia is mediated by heterophagy, autophagy, and apoptosis in Prochilodus argenteus and Leporinus taeniatus (Teleostei: Characiformes).

    PubMed

    Santos, H B; Thomé, R G; Arantes, F P; Sato, Y; Bazzoli, N; Rizzo, E

    2008-12-01

    We investigated apoptosis, cell proliferation antigen (PCNA), and heat shock protein (HSP70) during ovarian follicular atresia in two freshwater teleost species from the São Francisco River basin, Brazil: curimatã-pacu, Prochilodus argenteus and piau-jejo, Leporinus taeniatus. Fishes were maintained in captivity after the reproductive period and ovarian regression was assessed by gonadosomatic index for three stages: early, advanced, and late regression. Follicular atresia was analysed by light and transmission electron microscopy, as well as by TUNEL and immunohistochemistry for HSP70 and PCNA. During early regression, atretic follicles exhibited zona pellucida breakdown, yolk degeneration, and hypertrophied follicular cells (e.g., granulosa in mammals). Intense heterophagy to engulf the yolk, and autophagy were detected in the follicular cells during advanced and late atresia. The TUNEL assay detected DNA fragmentation, mainly in late follicular atresia. The apoptosis rate of the follicular cells increased up to 10% during follicular atresia in both species and was negatively correlated with follicular area. Immunohistochemistry reaction for HSP70 stained the follicular cells strongly during advanced atresia, when they are intensively involved in yolk engulfment, whereas the reaction for PCNA labelled theca cells. We inferred that heterophagy, autophagy, and apoptosis contributed to follicular atresia in teleost ovaries, thereby achieving a more efficient removal of the degenerating oocyte and dying follicular cells. Additionally, HSP70 may protect the follicular cells before apoptosis when they are involved in yolk engulfment, and cell proliferation in the theca contributed to ovarian remodelling. PMID:18701155

  2. Prevalence of congenital heart disease in patients undergoing surgery for major gastrointestinal malformations: an Indian study

    PubMed Central

    Gokhroo, Rajendra K; Gupta, Sajal; Arora, Garima; Bisht, Devendra S; Padmanabhan, Deepak; Soni, Varsha

    2015-01-01

    Background The association of congenital heart disease (CHD) with malformations of the gastrointestinal (GI) tract/abdominal wall is known. The rates of cardiac malformations reported in previous studies of these anomalies are highly variable. Objective To find the prevalence and pattern of CHD in patients with major gastrointestinal malformations (anorectal malformations, oesophageal atresia/tracheo-oesophageal fistula, and omphalocoele) undergoing surgery at a tertiary care hospital in India. Methods From July 2012 to December 2013, 43 patients (34 (79%) male, 9 (21%) female) were evaluated by clinical examination, ECG, chest radiography, and colour Doppler echocardiography. Results Of the 43 patients, 26 (60.46%) had CHD. The most common GI malformation was anorectal malformation: 32 cases (74.41%), of whom 16 (50%) had CHD. The second most common malformation was oesophageal atresia/tracheo-oesophageal fistula: 5 cases (11.62%), all (100%) with CHD. The third group comprised patients with omphalocoele: 4 cases (9.3%), 3 of whom (75%) had CHD. The fourth group comprised patients with VACTERAL (vertebral anomalies, anal atresia, cardiovascular malformations, tracheo-oesophageal fistula, renal and limb anomalies) association—2 cases (4.6%), all (100%) with CHD. The most common CHD was isolated atrial septal defect (ASD) (73%), followed by ASD + ventricular septal defect (VSD) + patent ductus arteriosus (PDA) (7.6%), ASD + VSD (3.8%), ASD + PDA (3.8%), VSD (3.8%), PDA (3.8%), and coarctation of the aorta (3.8%). Conclusions We found the frequency of CHD in patients with GI malformations was very high, the most common presentation being ASD. Our study indicates the need for larger scale studies to determine the prevalence of CHD in patients with GI malformations in the Indian population. PMID:27326210

  3. Pulmonary Atresia with Ventricular Septal Defect and Major Aortopulmonary Collaterals Associated with Left Pulmonary Artery Interruption

    PubMed Central

    Mun, Da-Na; Park, Chun Soo; Kim, Young-Hwue; Goo, Hyun Woo

    2016-01-01

    A multistage plan and multidisciplinary approach are the keys to successful repair in patients with pulmonary atresia (PA) with ventricular septal defect (VSD) and major aortopulmonary collateral arteries (MAPCAs). In this article, we present a multidisciplinary approach adopted to treat a patient with PA with VSD and MAPCAs associated with left pulmonary artery interruption. PMID:27733998

  4. Evaluating Necessity of Azygos Vein Ligation in Primary Repair of Esophageal Atresia.

    PubMed

    Fathi, Mehdi; Joudi, Marjan; Morteza, Afsaneh

    2015-12-01

    Surgery has dramatically improved survival of infants with esophageal atresia. However, early and late complications of these surgeries affect the future life of this population. A probable step toward minimizing such complications is through modifying the technique of surgery. We evaluated two groups of esophageal atresia undergoing surgery with two different techniques including preservation and ligation of the Azygos vein and compared early complications, duration of surgery, and hospital and neonatal intensive care unit (NICU) stay between them. A total number of 24 patients with mean age of 24 to 48 h, who were diagnosed with esophageal atresia, were included in the study. All cases were randomly allocated in two groups: group A (case group) in which patients underwent surgery with preservation of the Azygos vein and group B (control group) in which patients underwent the former surgical method with ligation of the Azygos vein. Incidence of early complications, duration of surgery, and NICU and hospital stay were compared between the two groups. None of the complications occurred in either group. Duration of surgery, NICU stay, and hospital stay were not statistically significant between the groups. Preserving the Azygos vein during esophageal atresia surgery is probably a good modification of the classic technique. PMID:26730061

  5. A new approach for the management of esophageal atresia without tracheo-esophageal fistula.

    PubMed

    Bedi, Nandini K; Grewal, Alka G; Rathore, Shubhra; George, Uttam

    2016-01-01

    Long gap esophageal atresia (OA) is a challenging condition. While discussing the various methods of management available to us, we report the use of magnetic resonance imaging in a case of pure OA to judge the gap between two ends of the esophagus. PMID:27365910

  6. [Scimitar syndrome associated to pulmonary atresia with interventricular communication. First reported case].

    PubMed

    Alva, Carlos; Valero, Gillermo; Martínez, Arturo; Riera, Carlos; David, Felipe; Jiménez, Santiago; Ortegón, José; Sánchez, Agustín; López, Diana; Ramírez, Erick

    2004-01-01

    We present the case of a 15 months-old male with Scimitar Syndrome associated with ventricular septal defect and pulmonary atresia. The diagnosis was made by cardiac catheterization and angiography and was confirmed by the necropsy. Clinical and surgical considerations of this exceptional association were made. To the best of our knowledge this is the first case reported in the relevant literature.

  7. Thoracoscopic repair of esophageal atresia with a distal fistula – lessons from the first 10 operations

    PubMed Central

    Zaborowska, Kamila; Rogowski, Błażej; Kalińska, Anita; Nosek, Marzena; Golonka, Anna; Lesiuk, Witold; Obel, Marcin

    2015-01-01

    Introduction Thoracoscopic esophageal atresia (EA) repair was first performed in 1999, but still the technique is treated as one of the most complex pediatric surgical procedures. Aim The study presents a single-center experience and learning curve of thoracoscopic repair of esophageal atresia and tracheo-esophageal (distal) fistula. Material and methods From 2012 to 2014, 10 consecutive patients with esophageal atresia and tracheo-esophageal fistula were treated thoracoscopically in our center. There were 8 girls and 2 boys. Mean gestational age was 36.5 weeks and mean weight was 2230 g. Four children had associated anomalies. The surgery was performed after stabilization of the patient between the first and fourth day after birth. Five patients required intubation before surgery for respiratory distress. Bronchoscopy was not performed before the operation. Results In 8 patients, the endoscopic approach was successfully used thoracoscopically, while in 2 patients conversion to an open thoracotomy was necessary. In all patients except 1, the anastomosis was patent, with no evidence of leak. One patient demonstrated a leak, which did not resolve spontaneously, necessitating surgical repair. In long-term follow-up, 1 patient required esophageal dilatation of the anastomosis. All patients are on full oral feeding. Conclusions The endoscopic approach is the method of choice for the treatment of esophageal atresia in our center because of excellent visualization and precise atraumatic preparation even in neonates below a weight of 2000 g. PMID:25960794

  8. Maternal Residential Atrazine Exposure and Risk for Choanal Atresia and Stenosis in Offspring

    PubMed Central

    Agopian, A.J.; Cai, Yi; Langlois, Peter H.; Canfield, Mark A.; Lupo, Philip J.

    2014-01-01

    Objective To assess the relationship between estimated residential maternal exposure to atrazine during pregnancy and risk for choanal atresia or stenosis in offspring. Study Design Data for 280 nonsyndromic cases and randomly selected, population-based controls delivered during 1999 to 2008 were obtained from the Texas Birth Defects Registry. County-level estimates of atrazine levels obtained from the United States Geological Survey were assigned to cases and controls based on maternal county of residence at delivery. Unconditional logistic regression was used to assess the relationship between maternal residential atrazine exposure and risk for choanal atresia or stenosis in offspring. Results Compared to offspring of mothers with low levels of estimated residential atrazine exposure, those with high levels had nearly a two-fold increase in risk for choanal atresia or stenosis (adjusted odds ratio: 1.79, 95% confidence interval: 1.17–2.74). A significant linear trend was also observed with increasing levels of atrazine exposure (adjusted P = 0.002). Conclusions A link between maternal exposure to endocrine disruptors, such as atrazine, and choanal atresia risk is plausible based on previous findings. Our results further support this hypothesis. PMID:23036484

  9. Agenesis of the dorsal mesentery without jejunoilial atresia ("apple peel small bowel").

    PubMed

    Hull, J D; Kiesel, J L; Proudfoot, W H; Belin, R P

    1975-04-01

    Agenesis of the dorsal mesentery with apple peel or Christmas tree deformity but without small-bowel atresia can occur beyond the neonatal period. The recognition of this entity is imperative as it is also associated with a marginal artery which may be the only blood supply to the majority of small bowel. Preservation of this vessel is necessary to avoid catastrophic bowel death.

  10. The congenital cranial dysinnervation disorders.

    PubMed

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. PMID:25633065

  11. [Diagnosis of congenital infection].

    PubMed

    Sampedro Martínez, Antonio; Martínez, Luis Aliaga; Teatino, Pablo Mazuelas; Rodríguez-Granger, Javier

    2011-12-01

    In general, congenital diagnosis is based on: a) maternal serologic assays; b) microbiologic study of amniotic fluid or fetal blood sampling; and c) serology in children and microorganism detection by polymerase chain reaction (PCR) or culture. Congenital infections due to cytomegalovirus, herpes simplex, varicella, B19 erythrovirus and toxoplasmosis are usually the result of primary infection in the mother. Therefore, when IgG antibodies are detected before pregnancy, these infections are ruled out. Definitive serologic diagnosis of acute infection in pregnant women requires the demonstration of seroconversion (i.e., from seronegative to seropositive). In these cases, amniotic fluid or fetal blood sampling should be performed to determine the presence of intrauterine congenital infection. Cytomegalovirus, rubella and toxoplasmosis can be diagnosed by detection of specific IgM antibodies in fetal blood. However, PCR in amniotic fluid has replaced conventional prenatal diagnostic techniques, including fetal blood sampling, in the diagnosis of these infections. In the newborn, these infections may be confirmed by measuring IgM specific antibodies. B19 erythrovirus can be detected by PCR in amniotic fluid or fetal blood. Congenital varicella-zoster infection may be diagnosed on the basis of persistence of IgG antibodies after birth. Definitive diagnosis of herpes simplex virus infection requires viral isolation. Swabs or scraping from clinical specimens can be inoculated into susceptible cell lines for isolation. PMID:22305665

  12. Congenital complete atrioventricular block.

    PubMed Central

    Kertesz, N J; Fenrich, A L; Friedman, R A

    1997-01-01

    Congenital complete atrioventricular block is found in 1 of 22,000 live births. Over time, it has become apparent that these patients represent not a single distinct disease process, but several processes with the common manifestation of atrioventricular block. The evaluation of these patients to determine their risk of sudden death and need for pacing is not well defined. Images PMID:9456483

  13. Congenital Midline Cervical Cleft

    PubMed Central

    Villanueva-Meyer, Javier; Glastonbury, Christine; Marcovici, Peter

    2015-01-01

    Congenital midline cervical cleft is a rare anomaly that typically presents in the neonatal period as a thin suprasternal vertical band of erythematous skin with a nipple-like projection superiorly, which may exude fluid. We present the clinical and pathophysiologic features and the imaging findings of this uncommon, and rarely described entity in a newborn girl. PMID:25926928

  14. Congenital adrenal hyperplasia

    MedlinePlus

    ... or inappropriately). Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 ... penis but normal testes Well-developed muscles Both boys and girls will be tall as children, but much shorter ...

  15. Congenital Heart Information Network

    MedlinePlus

    ... Barmash and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  16. Autism and Congenital Blindness.

    ERIC Educational Resources Information Center

    Hobson, R. Peter; Lee, Anthony; Brown, Rachel

    1999-01-01

    This study compared a group of nine children (ages 3 to 8) with congenital blindness and an autism-like syndrome with nine sighted children. Children with autism had more severe abnormalities in terms of their relationships with people and emotional expressions, and were more impaired in the area of pretend play. (CR)

  17. Multiple congenital coagulation deficiencies.

    PubMed

    BONNIN, J A; HICKS, N D; INNIS, M D; SIMPSON, D A

    1960-07-01

    A 6-week-old infant is presented who suffered from a congenital haemorrhagic disorder which caused death from subdural haemorrhage following mild trauma. Haematological investigation revealed deficiencies of factor VII and Christmas factor. Prower-Stuart factor was probably also deficient although investigation of this clotting factor was carried out only on serum obtained at necropsy.

  18. The Role of ARF6 in Biliary Atresia

    PubMed Central

    Glessner, Joseph; Ashokkumar, Chethan; Ranganathan, Sarangarajan; Min, Jun; Higgs, Brandon W.; Sun, Qing; Haberman, Kimberly; Schmitt, Lori; Vilarinho, Silvia; Mistry, Pramod K.; Vockley, Gerard; Dhawan, Anil; Gittes, George K.; Hakonarson, Hakon; Jaffe, Ronald; Subramaniam, Shankar; Shin, Donghun; Sindhi, Rakesh

    2015-01-01

    Background & Aims Altered extrahepatic bile ducts, gut, and cardiovascular anomalies constitute the variable phenotype of biliary atresia (BA). Methods To identify potential susceptibility loci, Caucasian children, normal (controls) and with BA (cases) at two US centers were compared at >550000 SNP loci. Systems biology analysis was carried out on the data. In order to validate a key gene identified in the analysis, biliary morphogenesis was evaluated in 2-5-day post-fertilization zebrafish embryos after morpholino-antisense oligonucleotide knockdown of the candidate gene ADP ribosylation factor-6 (ARF6, Mo-arf6). Results Among 39 and 24 cases at centers 1 and 2, respectively, and 1907 controls, which clustered together on principal component analysis, the SNPs rs3126184 and rs10140366 in a 3’ flanking enhancer region for ARF6 demonstrated higher minor allele frequencies (MAF) in each cohort, and 63 combined cases, compared with controls (0.286 vs. 0.131, P = 5.94x10-7, OR 2.66; 0.286 vs. 0.13, P = 5.57x10-7, OR 2.66). Significance was enhanced in 77 total cases, which included 14 additional BA genotyped at rs3126184 only (p = 1.58x10-2, OR = 2.66). Pathway analysis of the 1000 top-ranked SNPs in CHP cases revealed enrichment of genes for EGF regulators (p<1 x10-7), ERK/MAPK and CREB canonical pathways (p<1 x10-34), and functional networks for cellular development and proliferation (p<1 x10-45), further supporting the role of EGFR-ARF6 signaling in BA. In zebrafish embryos, Mo-arf6 injection resulted in a sparse intrahepatic biliary network, several biliary epithelial cell defects, and poor bile excretion to the gall bladder compared with uninjected embryos. Biliary defects were reproduced with the EGFR-blocker AG1478 alone or with Mo-arf6 at lower doses of each agent and rescued with arf6 mRNA. Conclusions The BA-associated SNPs identify a chromosome 14q21.3 susceptibility locus encompassing the ARF6 gene. arf6 knockdown in zebrafish implicates early biliary

  19. [Biliary atresias operated with favourable results: predictable outcome].

    PubMed

    Broto, J; Gil Vernet, J M; Ormaechea, M

    2005-01-01

    Since 1975, our experience in the treatment of biliary atresia with Kasai's technique has improved little by little, achieving 65% favourable outcome in the last five years. We define "good results" as the complete restoration of biliary flow and normalization of bilirrubin levels. The long-term evolution of these good results can be diverse. The objective of the present work is to analyze the outcome of patients in our series in whom a favourable initial response was achieved, as well as evaluating their present situation and future perspectives. The authors present a total of 17 patients operated by Kasai's technique since 1985, that constitutes the group with good results in our series. The controls were based on general analysis, liver function and periodic ultrasound explorations. All received a standardized medical treatment consisting of vitamin supplements (A, D3, E, K) minerals (zinc, calcium, phosphate, iron) ursodexoxicolic acid, luminal,as well as close control of calorie intake. In two patients the levels of bilirrubine were progressively increased with time, stabilizing at between 5/6 mgs/100 ml, with progressive hepatic hardening, appearance of splenomegalia, indirect signs of portal hypertension and a slight deterioration of hepatic function. One received a transplant at age 12 with Quick levels below 50%. The other, aged 16, continues with an acceptable hepatic function and good quality of life under recommendation of transplant. Eleven patients with ages ranging from fourteen months to seventeen years presented slight and firm hepatomegalia, moderate portal hypertension, GOT 71 +/- 8 mg/100 ml, GPT 97 +/- 11 mg/100 ml and normal bilirrubine levels. From this group, 3 patients, all under five years of age, experienced bleeding from esophageal varices which were controlled by sclerosis and medical treatment (propanolol and isosorbide dinitrate). Recently, one three year-old patient developed a hepatocarcinoma of rapid, mortal evolution. Since then

  20. Value of bronchial challenge in scuba diving candidates.

    PubMed

    Badier, M; Guillot, C; Delpierre, S; Fornaris, E; Jacquin, M

    2000-12-01

    Bronchial challenges were effected with carbachol in 76 subjects who were candidates for a scuba diving group. Bronchial reactivity was assessed through airway resistance and forced expiratory volume in 1 sec (FEV1) measurements. Medical interrogation had revealed symptoms of recent (RA) or ancient (AA) asthma, or allergic rhinitis (AL). Nearly half of the subjects (47%) presented bronchial hyperresponsiveness (BHR), which was much more frequent in the RA group, but whose strength did not depend on clinical presentation. Prevalence of BHR was fairly high (36%) in the AL group. BHR constituted a contraindication to scuba diving because it may promote pulmonary barotrauma.

  1. Effects of acupuncture in bronchial asthma: preliminary communication.

    PubMed Central

    Dias, P L; Subramaniam, S; Lionel, N D

    1982-01-01

    Twenty patients randomly assigned to an experimental and a control group participated in a double blind study to assess the effectiveness of acupuncture in bronchial asthma, using the peak expiratory flow rate (PEFR) as an index of bronchial patency. All patients in the control group showed a significant improvement in their PEFR while only 3 patients in the treated group showed an improvement. A subjective improvement and a reduction in drug dosages were observed in both groups. It is concluded that acupuncture has a placebo effect in bronchial asthma. PMID:7040659

  2. Type II congenital pulmonary airway malformation in an esophageal lung

    PubMed Central

    Martínez-Martínez, Blanca Estela; Furuya, María Elena Yuriko; Martínez-Muñiz, Irma; Vargas, Mario H; Flores-Salgado, Rosalinda

    2013-01-01

    A seven-month-old girl, born prematurely (birth weight 1000 g) from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung. PMID:23762890

  3. Yoga for bronchial asthma: a controlled study.

    PubMed

    Nagarathna, R; Nagendra, H R

    1985-10-19

    Fifty three patients with asthma underwent training for two weeks in an integrated set of yoga exercises, including breathing exercises, suryanamaskar, yogasana (physical postures), pranayama (breath slowing techniques), dhyana (meditation), and a devotional session, and were told to practise these exercises for 65 minutes daily. They were then compared with a control group of 53 patients with asthma matched for age, sex, and type and severity of asthma, who continued to take their usual drugs. There was a significantly greater improvement in the group who practised yoga in the weekly number of attacks of asthma, scores for drug treatment, and peak flow rate. This study shows the efficacy of yoga in the long term management of bronchial asthma, but the physiological basis for this beneficial effect needs to be examined in more detail.

  4. [Diagnostic image (113). A neonate blowing bubbles. Esophageal atresia with tracheoesophageal fistula, Hirschsprung disease and suspected Down's syndrome].

    PubMed

    Postema, R R; Meradji, M; Langemeijer, R A Th M

    2002-11-01

    In a male neonate 'blowing bubbles', three diagnoses were seen on a combined thoracic and abdominal X-ray: esophageal atresia with tracheoesophageal fistula, Hirschsprung's disease, and suspected Down's syndrome (because of the presence of II pairs of ribs).

  5. Embolization of Collateral Vessels Using Mechanically Detachable Coils in Young Children with Congenital Heart Disease

    SciTech Connect

    Sato, Y.; Ogino, H.; Hara, M.; Satake, M.; Oshima, H.; Banno, T.; Mizuno, K.; Mishima, A.; Shibamoto, Y.

    2003-11-15

    Our objective was to evaluate the usefulness of embolizing collateral vessels using mechanically detachable coils (MDCs) in children aged 3 years or younger with congenital heart disease. The subjects were 8 children with congenital heart disease featuring collateral vessels (age 18 days-3 years): 3 with a single ventricle, 2 with the tetralogy of Fallot, 2 with pulmonary atresia, and 1 with a ventricular septal defect. The embolized vessels were the major aortopulmonary collateral artery (MAPCA) in 5 patients, the persistent left superior vena cava in 2, and the coronary arteriovenous fistula in 1. A 4 or a 5 F catheter was used as the guiding device, and embolization was performed using MDCs and other conventional coils introduced through the microcatheter. One patient had growth of new MAPCAs after embolization, and these MAPCAs were also embolized with MDCs. Thus, a total of 9 embolization procedures were performed in 8 patients. Complete occlusion of the collateral vessels was achieved in 8 of 9 procedures (89%). Seven of 8 patients (88%) had uneventful courses after embolization, and MDC procedures appeared to play important roles in avoiding coil migration and achievement of safe coil embolization. One patient who underwent MAPCA embolization showed no improvement in heart function and died 2 months and 19 days later. Embolization of collateral vessels using MDCs in young children with congenital heart disease can be an effective procedure and a valuable adjunct to surgical management.

  6. [Metabolic and pharmacologic interactions on the bronchial tonus].

    PubMed

    Harichaux, P

    1977-01-01

    After reminding data concerning the part played by the as a rule antagonist cAMP system in moticity of the smooth muscle fibers in general and of the bronchial fibers in particular, the authors study the different types of interaction on bronchial muscular fibers which have been discribed. It is concerning the adrenergic fibers that the experimental and clinical data are prevalent (role of bronchial alpha- and beta2- receptors) and the authors point especially to their own studies performed since 1964 concerning the alpha1- -bronchoconstrictive component and progressive auto-inhibition of the bronchial beta2- receptors. But autacoids (serotonin, bradykinin, histamine and prostaglandines) and with the stimulating or inhibiting agents of the beta2 -receptors also begin to be recognized.

  7. Bronchial arterial embolisation for massive haemoptysis in cavitary sarcoidosis

    PubMed Central

    Loh, Geoffrey Andrew; Lettieri, Christopher J; Shah, Anita A

    2013-01-01

    A 48-year-old non-smoking man with a 6-year history of pulmonary cavitary sarcoidosis presented with acute onset of haemoptysis of approximately 600 ml. Prior episodes of haemoptysis had resolved only after serial upper lobe wedge resections bilaterally and steroids. A chest CT identified bilateral upper lobe cavitary lesions with extravasation of contrast from a large right upper lobe cavity. The patient underwent urgent bronchial angiography and subsequent bronchial artery embolisation of a left bronchial artery and three right bronchial arteries. He was started on methotrexate and steroids for refractory sarcoidosis. Two years after embolisation, the patient remained haemoptysis-free with his sarcoid well controlled on methotrexate monotherapy. PMID:23355590

  8. Bronchial epithelium in children: a key player in asthma.

    PubMed

    Carsin, Ania; Mazenq, Julie; Ilstad, Alexandra; Dubus, Jean-Christophe; Chanez, Pascal; Gras, Delphine

    2016-06-01

    Bronchial epithelium is a key element of the respiratory airways. It constitutes the interface between the environment and the host. It is a physical barrier with many chemical and immunological properties. The bronchial epithelium is abnormal in asthma, even in children. It represents a key component promoting airway inflammation and remodelling that can lead to chronic symptoms. In this review, we present an overview of bronchial epithelium and how to study it, with a specific focus on children. We report physical, chemical and immunological properties from ex vivo and in vitro studies. The responses to various deleterious agents, such as viruses or allergens, may lead to persistent abnormalities orchestrated by bronchial epithelial cells. As epithelium dysfunctions occur early in asthma, reprogramming the epithelium may represent an ambitious goal to induce asthma remission in children.

  9. Update on congenital glaucoma

    PubMed Central

    Mandal, Anil K; Chakrabarti, Debasis

    2011-01-01

    Congenital glaucoma is a global problem and poses a diagnostic and therapeutic challenge to the ophthalmologist. A detailed evaluation under general anesthesia is advisable to establish the diagnosis and plan for management. Medical therapy has a limited role and surgery remains the primary therapeutic modality. While goniotomy or trabeculotomy ab externo is valuable in the management of congenital glaucoma, primary combined trabeculotomy–trabeculectomy offers the best hope of success in advanced cases. Trabeculectomy with antifibrotic agent and glaucoma drainage devices has a role in the management of refractory cases, and cyclodestructive procedures should be reserved for patients where these procedures have failed. Early diagnosis, prompt therapeutic intervention and proper refractive correction are keys to success. Management of residual vision and visual rehabilitation should be an integral part of the management of children with low vision and lifelong follow-up is a must. PMID:21150027

  10. Congenital idiopathic clubfoot deformities.

    PubMed

    Kyzer, S P; Stark, S L

    1995-03-01

    Clubfoot is a birth defect that is marked primarily by a deformed talus (ie, ankle) and calcaneous (ie, heel) that give the foot a characteristic "club-like" appearance. In congenital idiopathic clubfoot (ie, talipes equinovarus), the infant's foot points downward (ie, equinus) and turns inward (ie, varus), while the forefoot curls toward the heel (ie, adduction). This congenital disorder has an incidence of 1 in 400 live births, with boys affected twice as often as girls. Unilateral clubfoot is somewhat more common than bilateral clubfoot and may occur as an isolated defect or in association with other disorders (eg, chromosomal aberrations, cerebral palsy, spina bifida, arthrogryposis). Infantile clubfoot deformity is painless and is correctable with early diagnosis and prompt treatment. PMID:7778903

  11. Congenital hemifacial hyperplasia.

    PubMed

    Deshingkar, S A; Barpande, S R; Bhavthankar, J D

    2011-07-01

    Congenital hemifacial hyperplasia (CHH) is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge. PMID:22090778

  12. Congenital lipodystrophies and dyslipidemias.

    PubMed

    Prieur, Xavier; Le May, Cedric; Magré, Jocelyne; Cariou, Bertrand

    2014-09-01

    Lipodystrophies are rare acquired and genetic disorders characterized by the selective loss of adipose tissue. One key metabolic feature of patients with congenital inherited lipodystrophy is hypertriglyceridemia. The precise mechanisms by which the lack of adipose tissue causes dyslipidemia remain largely unknown. In recent years, new insights have arisen from data obtained in vitro in adipocytes, yeast, drosophila, and very recently in several genetically modified mouse models of generalized lipodystrophy. A common metabolic pathway involving accelerated lipolysis and defective energy storage seems to contribute to the dyslipidemia associated with congenital generalized lipodystrophy syndromes, although the pathophysiological changes may vary with the nature of the mutation involved. Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy. Preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials.

  13. Congenital hemifacial hyperplasia

    PubMed Central

    Deshingkar, S. A.; Barpande, S. R.; Bhavthankar, J. D.

    2011-01-01

    Congenital hemifacial hyperplasia (CHH) is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge. PMID:22090778

  14. Congenital brachymetatarsia: three cases.

    PubMed

    Ferrández, L; Yubero, J; Usabiaga, J; Ramos, L

    1993-01-01

    We report on three cases with congenital brachymetatarsia, one with bilateral affectation, together with the results of a lengthening of the short metatarsal bones by progressive axial distraction using an external minifixator. The method proved to be easy to implement, permitting immediate functionality of the ankle and early load bearing. The immediate results (cosmetic) and later findings (functional) were excellent in all three cases. PMID:8314189

  15. Congenital scoliosis - Quo vadis?

    PubMed

    Debnath, Ujjwal K; Goel, Vivek; Harshavardhana, Nanjanduppa; Webb, John K

    2010-04-01

    Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV) which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions) and patient's age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only) surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the armamentarium of the

  16. Congenital Cataract Screening

    PubMed Central

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  17. Congenital Cataract Screening

    PubMed Central

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  18. Congenital Cataract Screening.

    PubMed

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  19. Methoxychlor inhibits growth and induces atresia through the aryl hydrocarbon receptor pathway in mouse ovarian antral follicles.

    PubMed

    Basavarajappa, Mallikarjuna S; Hernández-Ochoa, Isabel; Wang, Wei; Flaws, Jodi A

    2012-08-01

    Methoxychlor (MXC) is an organochlorine pesticide used against pests that attack crops, vegetables, and livestock. MXC inhibits growth and induces atresia (death) of mouse ovarian antral follicles in vitro. Since several studies indicate that many chemicals act through the aryl hydrocarbon receptor (AHR) pathway, the current study tested the hypothesis that MXC binds to the AHR to inhibit growth and induce atresia of antral follicles. The data indicate that MXC binds to AHR. Further, a relatively high dose of MXC (100μg/ml) inhibits growth and induces atresia in both wild-type (WT) and AHR null (AHRKO) follicles, whereas a lower dose of MXC (10μg/ml) inhibits growth and induces atresia in WT, but not in AHRKO follicles. These data indicate that AHR deletion partially protects antral follicles from MXC induced slow growth and atresia. Collectively, these data show that MXC may act through the AHR pathway to inhibit follicle growth and induce atresia in antral follicles of the ovary.

  20. Optimizing the US Diagnosis of Biliary Atresia with a Modified Triangular Cord Thickness and Gallbladder Classification.

    PubMed

    Zhou, Lu-Yao; Wang, Wei; Shan, Quan-yuan; Liu, Bao-xian; Zheng, Yan-ling; Xu, Zuo-feng; Xu, Ming; Pan, Fu-shun; Lu, Ming-de; Xie, Xiao-yan

    2015-10-01

    Purpose To evaluate the diagnostic performance of ultrasonography (US) in the identification and exclusion of biliary atresia with a modified triangular cord thickness metric together with a gallbladder classification scheme, as well as hepatic artery (HA) diameter and liver and spleen size, in a large sample of jaundiced infants. Materials and Methods The ethics committee approved this study, and written informed parental consent was obtained. In 273 infants with conjugated hyperbilirubinemia (total bilirubin level ≥ 31.2 μmol/L, with direct bilirubin level > indirect bilirubin level), detailed abdominal US was performed to exclude biliary atresia. Biliary atresia was found in 129 infants and ruled out in 144. A modified triangular cord thickness was measured at the anterior branch of the right portal vein, and a gallbladder classification scheme was identified that incorporated the appearance of the gallbladder and a gallbladder length-to-width ratio of up to 5.2 when the lumen was visualized, as well as HA diameter and liver and spleen size. Reference standard diagnosis was based on results of one or more of the following: surgery, liver biopsy, cholangiography, and clinical follow-up. Area under the receiver operating characteristic curve (AUC) analysis, binary logistic regression analysis, Fisher exact test, and unpaired t test were performed. Results Triangular cord thickness, HA diameter, ratio of gallbladder length to gallbladder width, liver size, and spleen size exhibited statistically significant differences (all P < .05) between the group with biliary atresia and the group without. AUCs of triangular cord thickness, ratio of gallbladder length to width, and HA diameter were 0.952, 0.844, and 0.838, respectively. Logistic regression analysis demonstrated that these three US parameters were significantly associated (all P < .05) with biliary atresia. The combination of triangular cord thickness and gallbladder classification could yield comparable AUCs

  1. Congenital hemangiopericytoma: two case reports.

    PubMed

    Bosch, A M; Hack, W W; Ekkelkamp, S

    1998-03-01

    Congenital hemangiopericytoma is a rare tumor consisting of capillaries surrounded by pericytes. Only histologically can the tumor be distinguished from other vascular hamartomas. For a long time the congenital type was considered benign; however, metastases have recently been described. A histologic diagnosis of all soft-tissue sarcomas should be made. We describe two patients with congenital hemangiopericytomas in whom the diagnosis was not suspected until after histologic examination. Long-term follow-up is indicated.

  2. Congenital Dislocation of the Hip

    PubMed Central

    Premi, J. M.

    1976-01-01

    The implications of a diagnosis of congenital dislocation of the hip and the importance of the role of the family physician in early detection and treatment are identified. A review of the salient clinical features of congenital dislocation of the hip is undertaken. The results of a survey carried out in the author's practice on an unusual incidence of congenital dislocated hip are reviewed. PMID:21308053

  3. Radiology of congenital heart disease

    SciTech Connect

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy.

  4. Micropenis and congenital adrenal hypoplasia.

    PubMed

    Bourgeois, M J; Jones, B; Waagner, D C; Dunn, D

    1989-01-01

    Micropenis is often an early sign of congenital hypopituitarism. It has also been associated with congenital adrenal hypoplasia in infants with anencephaly and pituitary agenesis. This report is on two infants with micropenis and congenital adrenal hypoplasia. One presented with a similar clinical course and postmortem findings to previously reported cases of adrenal hypoplasia and pituitary agenesis. The other patient represents the first reported case of an infant with micropenis and congenital adrenal hypoplasia in the absence of pituitary agenesis. The histologic patterns of adrenal hypoplasia, as well as the etiologic and clinical implications of its association with micropenis, are discussed.

  5. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... Home Health Conditions congenital hepatic fibrosis congenital hepatic fibrosis Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital hepatic fibrosis is a disease of the liver that is ...

  6. Genetics Home Reference: Leber congenital amaurosis

    MedlinePlus

    ... Registry: Leber congenital amaurosis 9 National Eye Institute: Gene Therapy for Leber Congenital Amaurosis These resources from MedlinePlus ... Additional NIH Resources (1 link) National Eye Institute: Gene Therapy for Leber Congenital Amaurosis Educational Resources (3 links) ...

  7. Environmental risk factors and allergic bronchial asthma.

    PubMed

    D'Amato, G; Liccardi, G; D'Amato, M; Holgate, S

    2005-09-01

    The prevalence of allergic respiratory diseases such as bronchial asthma has increased in recent years, especially in industrialized countries. A change in the genetic predisposition is an unlikely cause of the increase in allergic diseases because genetic changes in a population require several generations. Consequently, this increase may be explained by changes in environmental factors, including indoor and outdoor air pollution. Over the past two decades, there has been increasing interest in studies of air pollution and its effects on human health. Although the role played by outdoor pollutants in allergic sensitization of the airways has yet to be clarified, a body of evidence suggests that urbanization, with its high levels of vehicle emissions, and a westernized lifestyle are linked to the rising frequency of respiratory allergic diseases observed in most industrialized countries, and there is considerable evidence that asthmatic persons are at increased risk of developing asthma exacerbations with exposure to ozone, nitrogen dioxide, sulphur dioxide and inhalable particulate matter. However, it is not easy to evaluate the impact of air pollution on the timing of asthma exacerbations and on the prevalence of asthma in general. As concentrations of airborne allergens and air pollutants are frequently increased contemporaneously, an enhanced IgE-mediated response to aeroallergens and enhanced airway inflammation could account for the increasing frequency of allergic respiratory allergy and bronchial asthma. Pollinosis is frequently used to study the interrelationship between air pollution and respiratory allergy. Climatic factors (temperature, wind speed, humidity, thunderstorms, etc) can affect both components (biological and chemical) of this interaction. By attaching to the surface of pollen grains and of plant-derived particles of paucimicronic size, pollutants could modify not only the morphology of these antigen-carrying agents but also their allergenic

  8. Environmental risk factors and allergic bronchial asthma.

    PubMed

    D'Amato, G; Liccardi, G; D'Amato, M; Holgate, S

    2005-09-01

    The prevalence of allergic respiratory diseases such as bronchial asthma has increased in recent years, especially in industrialized countries. A change in the genetic predisposition is an unlikely cause of the increase in allergic diseases because genetic changes in a population require several generations. Consequently, this increase may be explained by changes in environmental factors, including indoor and outdoor air pollution. Over the past two decades, there has been increasing interest in studies of air pollution and its effects on human health. Although the role played by outdoor pollutants in allergic sensitization of the airways has yet to be clarified, a body of evidence suggests that urbanization, with its high levels of vehicle emissions, and a westernized lifestyle are linked to the rising frequency of respiratory allergic diseases observed in most industrialized countries, and there is considerable evidence that asthmatic persons are at increased risk of developing asthma exacerbations with exposure to ozone, nitrogen dioxide, sulphur dioxide and inhalable particulate matter. However, it is not easy to evaluate the impact of air pollution on the timing of asthma exacerbations and on the prevalence of asthma in general. As concentrations of airborne allergens and air pollutants are frequently increased contemporaneously, an enhanced IgE-mediated response to aeroallergens and enhanced airway inflammation could account for the increasing frequency of allergic respiratory allergy and bronchial asthma. Pollinosis is frequently used to study the interrelationship between air pollution and respiratory allergy. Climatic factors (temperature, wind speed, humidity, thunderstorms, etc) can affect both components (biological and chemical) of this interaction. By attaching to the surface of pollen grains and of plant-derived particles of paucimicronic size, pollutants could modify not only the morphology of these antigen-carrying agents but also their allergenic

  9. Growth and development after oesophageal atresia surgery: Need for long-term multidisciplinary follow-up.

    PubMed

    IJsselstijn, Hanneke; Gischler, Saskia J; Toussaint, Leontien; Spoel, Marjolein; Zijp, Monique H M van der Cammen-van; Tibboel, Dick

    2016-06-01

    Survival rates in oesophageal atresia patients have reached over 90%. In long-term follow-up studies the focus has shifted from purely surgical or gastrointestinal evaluation to a multidisciplinary approach. We reviewed the literature on the long-term morbidity of these patients and discuss mainly issues of physical growth and neurodevelopment. We conclude that growth problems - both stunting and wasting - are frequently seen, but that sufficient longitudinal data are lacking. Therefore, it is unclear whether catch-up growth into adolescence and adulthood occurs. Data on determinants of growth retardation are also lacking in current literature. Studies on neurodevelopment beyond preschool age are scarce but oesophageal atresia patients seem at risk for academic problems and motor function delay. Many factors contribute to the susceptibility to growth and development problems and we propose a multidisciplinary follow-up schedule into adulthood future care which may help improve quality of life.

  10. Does postoperative ventilation have an effect on the integrity of the anastomosis in repaired oesophageal atresia?

    PubMed

    Beasley, S W

    1999-04-01

    Several authors have claimed that the use of postoperative ventilation or graded withdrawal of respiratory support reduces the incidence of anastomotic complications after repair of oesophageal atresia, particularly where the gap between the oesophageal ends has been extensive or where the anastomosis has been constructed under tension. Careful review of their data reveals little objective evidence to either support or refute this contention. Many institutions are achieving low leakage rates following oesophageal anastomosis in oesophageal atresia, but to date there has been no controlled study to show that the use of neck flexion, muscle paralysis, intubation and assisted ventilation postoperatively influences the integrity of the anastomosis. The sequence of observations that led to the presumed relationship between postoperative ventilation and oesophageal leak is reviewed. It would appear that the effect of postoperative ventilation and paralysis on the oesophageal anastomosis is yet to be determined. PMID:10365344

  11. Multiple orifices and cholangiography with a "fire-like" appearance after Kasai hepatoportoenterostomy for biliary atresia.

    PubMed

    Yokoyama, Kensuke; Hatanaka, Hisashi; Inoue, Mikihiro; Yano, Tomonori; Numao, Norikatsu; Ushio, Jun; Lefor, Alan Kawarai; Tamada, Kiichi; Yamamoto, Hironori

    2016-09-01

    A 21-year-old female underwent a Kasai hepatoportoenterostomy with Roux-en-Y reconstruction for typeIII biliary atresia at age 63 days. At the age of 19 years, she developed cholangitis and CT scan revealed hepatolithiasis. She presented for treatment of the intrahepatic stone and the hepatportoenterostomy was directly visualized with double-balloon endoscopy (DBE). Endoscopic findings showed multiple intrahepatic bile ducts open to the jejunum through multiple orifices. Cholangiography showed narrowing of intrahepatic bile duct branches with a "fire-like" appearance. These findings have not been previously reported, since endoscopic approaches to patients with a hepaticojejunostomy were limited. DBE was useful to directly visualize the anastomosis in a patient status-post the Kasai operation for biliary atresia with a Rouxen-Y reconstruction. PMID:27502010

  12. Choledochal cyst and biliary atresia in the neonate: Imaging findings in five cases

    SciTech Connect

    Torrisi, J.M.; Haller, J.O.; Velcek, F.T. )

    1990-12-01

    The radiologic findings in five neonates with choledochal cyst associated with extra-hepatic biliary atresia are described. All five patients (age range, 13-72 days) presented with jaundice and acholic stools. In all four patients who underwent sonographic examination, a cystic structure separate from the gallbladder representing the choledochal cyst was shown. The diagnosis of atresia of the distal common bile duct was made preoperatively in all cases by hepatobiliary scintigraphy. Diagnosis was confirmed by surgical findings and was demonstrated by intraoperative cholangiography in four cases. All patients were successfully treated with surgical intervention within 1 month from the time of diagnosis. Early detection of this rare disorder, which may be distinct from choledochal cyst found in children and adults, is important to prevent fatal complications of biliary obstruction. The combined use of sonography and hepatobiliary scintigraphy can correctly identify this subset of patients with persistent neonatal jaundice and provide valuable information for prompt surgical management.

  13. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2015-10-26

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  14. Split-graft technique in neonatal heart transplant for aortic atresia.

    PubMed

    Gil-Jaurena, Juan-Miguel; González-López, María-Teresa; Pita-Fernández, Ana; Pérez-Caballero, Ramón

    2016-10-01

    We describe a neonate with aortic atresia and hypoplastic aorta, listed for heart transplant after extracorporeal membrane oxygenation resuscitation and ductal stenting. The donor aorta was detached from the graft, after an isolated arch reconstruction prior to the transplant itself in a routine fashion. To the best of our knowledge, this is the first reported case of neonatal arch reconstruction before transplantation performed with grafts from the same donor in a split-way strategy.

  15. Large Right Ventricular Clot in Pulmonary Atresia With Intact Ventricular Septum: In Defense of Biventricular Approach.

    PubMed

    Dutta, Nilanjan; Ghosh, Rajarshi; Awasthy, Neeraj; Iyer, Parvathi U; Girotra, Sumir; Iyer, Krishna S

    2016-09-01

    Thrombus formation within the right ventricle (RV) in the setting of pulmonary atresia with intact ventricular septum (PAIVS) is not a very common occurrence and can be catastrophic. We present the case of a seven-month-old child with PAIVS and RV clot who successfully underwent biventricular repair. We discuss the interesting case and the rationale for management by means of biventricular repair over single ventricle repair when feasible in such a setting.

  16. Split-graft technique in neonatal heart transplant for aortic atresia.

    PubMed

    Gil-Jaurena, Juan-Miguel; González-López, María-Teresa; Pita-Fernández, Ana; Pérez-Caballero, Ramón

    2016-10-01

    We describe a neonate with aortic atresia and hypoplastic aorta, listed for heart transplant after extracorporeal membrane oxygenation resuscitation and ductal stenting. The donor aorta was detached from the graft, after an isolated arch reconstruction prior to the transplant itself in a routine fashion. To the best of our knowledge, this is the first reported case of neonatal arch reconstruction before transplantation performed with grafts from the same donor in a split-way strategy. PMID:27354464

  17. Tricuspid atresia with christmas disease (hemophilia B). Report of a case.

    PubMed

    Lawson, R; Rullman, D; Brodeur, M; Starr, A

    1975-04-01

    A case combining Christmas disease and tricuspid atresia is presented. A severe coagulation defect in a hypoxic, polycythemic patient poses an added grave risk to major surgery. In the presence of marked and worsening symptoms, however, major surgery can be performed in these difficult cases. Close liason with a skilled hematology department is essential. Minimal tissue dissection is advised, and the usefulness of a reversed saphenous vein conduit is described.

  18. Bronchial responsiveness to histamine in wheezy infants.

    PubMed Central

    Prendiville, A; Green, S; Silverman, M

    1987-01-01

    Little is known about airway responsiveness in infancy. The bronchial response to incremental doses of nebulised histamine (to a maximum dose of 8 g/l) was measured in 11 wheezy infants with a mean age of 8.7 months. The study was repeated after a 30-40 minute recovery period in seven infants and again on a separate day in 10. The index of response was the provoking concentration of histamine that produced a 30% fall in the maximum expiratory flow at functional residual capacity (PC30), taken from partial forced expiratory flow-volume curves produced in a pressure jacket. Nine of 11 infants had a PC30 of less than 8 g/l. The response was consistent between tests in both the nine responders and the two who failed to respond at 8 g/l. The PC30 was lower in infants with more severe baseline airway obstruction. Spontaneous recovery after challenge was complete in 30 minutes in seven of eight infants studied. The highest doses of histamine caused changes in the configuration of the flow-volume curves and symptomatic cough and wheeze in addition to a change in forced flow rates. This study provides clear evidence of intrathoracic airway responsiveness to histamine in infancy. PMID:3433246

  19. Virus Infection-Induced Bronchial Asthma Exacerbation

    PubMed Central

    Yamaya, Mutsuo

    2012-01-01

    Infection with respiratory viruses, including rhinoviruses, influenza virus, and respiratory syncytial virus, exacerbates asthma, which is associated with processes such as airway inflammation, airway hyperresponsiveness, and mucus hypersecretion. In patients with viral infections and with infection-induced asthma exacerbation, inflammatory mediators and substances, including interleukins (ILs), leukotrienes and histamine, have been identified in the airway secretions, serum, plasma, and urine. Viral infections induce an accumulation of inflammatory cells in the airway mucosa and submucosa, including neutrophils, lymphocytes and eosinophils. Viral infections also enhance the production of inflammatory mediators and substances in airway epithelial cells, mast cells, and other inflammatory cells, such as IL-1, IL-6, IL-8, GM-CSF, RANTES, histamine, and intercellular adhesion molecule-1. Viral infections affect the barrier function of the airway epithelial cells and vascular endothelial cells. Recent reports have demonstrated augmented viral production mediated by an impaired interferon response in the airway epithelial cells of asthma patients. Several drugs used for the treatment of bronchial asthma reduce viral and pro-inflammatory cytokine release from airway epithelial cells infected with viruses. Here, I review the literature on the pathogenesis of the viral infection-induced exacerbation of asthma and on the modulation of viral infection-induced airway inflammation. PMID:22966430

  20. Diagnose of occult bronchial foreign body

    PubMed Central

    Wang, Lan; Pudasaini, Bigyan; Wang, Xue-Fen

    2016-01-01

    Abstract Background: Occult bronchial foreign body can be very difficult to diagnose early in an adult patient without acute symptoms. This report describes a rare case of undetected Chinese medicine “Coptis chinensis” aspiration for 10 long years. Methods: A case was reported that a female patient complained of a 10-year history of productive cough. A battery of tests were given to confirm the diagnosis. Results: Chest computed tomography (CT) showed extensive bronchiectasis and multiple nodules, along with stenosis of left lower lobar bronchus. An extensive solid lesion with surrounding inflammatory granulation tissue was seen on her first bronchoscopy and biopsy revealed chronic mucosal inflammation. A neglected history of Coptis chinensis regularly kept in-mouth while sleeping for the last 10 years in this patient provided clues for a final diagnosis. Confirmatory diagnosis of bilateral tracheobronchial foreign bodies caused by recurrent inhalation of Coptis chinensis was made by a second bronchoscopy. Conclusions: This case clearly demonstrates that a precise medical history is often overlooked. A high index of suspicion, a precise medical history, radiographic features of chronic respiratory symptoms not explained by other conditions were keys to diagnosing this case. PMID:27495017

  1. Bronchial Artery Aneurysm Embolization with NBCA

    SciTech Connect

    Aburano, Hiroyuki Kawamori, Yasuhiro; Horiti, Yasushi; Kitagawa, Kiyohide; Sanada, Junichiro; Matsui, Osamu

    2006-12-15

    We present a case of asymptomatic bronchial artery aneurysm that formed a fistula with part of the pulmonary artery (there was no definite fistula with the pulmonary vein). We were able to catheterize the feeding vessel but could not reach the aneurysm. We therefore injected a mixture of N-butyl-2-cyanoacrylate (NBCA; Histoacryl, B. Braun, Melsungen, Germany) and iodized oil (Lipiodol; Guerbet, Aulnay-sous-Bois, France) from the feeding vessel. The fistula, aneurysm, and feeding vessel were almost totally occluded. After embolization, the patient coughed a little; there were no other definite side effects or complications. One and 3 months later, on chest CT, the aneurysm was almost completely occupied with hyperattenuating NBCA-Lipiodol embolization. NBCA is a liquid embolization material whose time to coagulation after injection can be controlled by diluting it with Lipiodol. It is therefore possible to embolize an aneurysm, feeding vessels, and efferent vessels (in our case, it was a fistula) by using an NBCA-Lipiodol mixture of an appropriate concentration, regardless of whether the catheter can reach the aneurysm or not.

  2. Staging of biliary atresia at diagnosis by molecular profiling of the liver

    PubMed Central

    2010-01-01

    Background Young age at portoenterostomy has been linked to improved outcome in biliary atresia, but pre-existing biological factors may influence the rate of disease progression. In this study, we aimed to determine whether molecular profiling of the liver identifies stages of disease at diagnosis. Methods We examined liver biopsies from 47 infants with biliary atresia enrolled in a prospective observational study. Biopsies were scored for inflammation and fibrosis, used for gene expression profiles, and tested for association with indicators of disease severity, response to surgery, and survival at 2 years. Results Fourteen of 47 livers displayed predominant histological features of inflammation (N = 9) or fibrosis (N = 5), with the remainder showing similar levels of both simultaneously. By differential profiling of gene expression, the 14 livers had a unique molecular signature containing 150 gene probes. Applying prediction analysis models, the probes classified 29 of the remaining 33 livers into inflammation or fibrosis. Molecular classification into the two groups was validated by the findings of increased hepatic population of lymphocyte subsets or tissue accumulation of matrix substrates. The groups had no association with traditional markers of liver injury or function, response to surgery, or complications of cirrhosis. However, infants with an inflammation signature were younger, while those with a fibrosis signature had decreased transplant-free survival. Conclusions Molecular profiling at diagnosis of biliary atresia uncovers a signature of inflammation or fibrosis in most livers. This signature may relate to staging of disease at diagnosis and has implications to clinical outcomes. PMID:20465800

  3. [Abnormal Serum Total Protein Measurement by Lipoprotein-X in an Infant with Biliary Atresia].

    PubMed

    Futatsugi, Akiko; Hidaka, Eiko; Kubota, Noriko; Nishijima, Fumie; Yoshizawa, Katsumi; Ishimine, Nau; Sugano, Mitsutoshi; Hori, Atsushi; Hidaka, Hiroya

    2015-11-01

    Lipoprotein-X (LP-X) in cholestatic jaundice causes abnormal reaction in assays for low-density lipoprotein-cholesterol, but the effects on other test items are unknown. Here, we report an infant with biliary atresia showing abnormal reaction in total serum protein assay using the biuret method, and lipoprotein-X (LP-X) was then detected. In this 11-month-old female infant, jaundice was observed at 2 months old, and a diagnosis of biliary atresia was made. On biochemical tests at 12 months old, the total serum protein concentrations detected by the biuret method were very high, and the response curve and linearity of dilution were abnormal. LP-X was detected by agar electrophoresis. In addition and recovery experiments with normal serum fractionation of the patient's LP-X-rich lipoprotein fraction prepared by ultracentrifugation, normal γ-globulin fractionation showed an abnormal reaction by the biuret method. In infants with biliary atresia, we showed that the total serum protein assay by the biuret method was influenced by LP-X-rich lipoprotein, which may be caused by abnormal reaction of LP-X and γ-globulin. [Case Report].

  4. Hyberbaric oxygen increases atresia in normal & steroid induced PCO rat ovaries

    PubMed Central

    2012-01-01

    Background In this study, we investigated the effect of hyperbaric oxygen therapy (HBOT) on the morphology of estradiol valerate (EV) induced polycystic ovary (PCO) to find a new treatment modality for improvement of PCO. Methods The rats were divided into four groups. Group1, control; group 2, PCO group; group 3, PCO with HBOT group and group 4, normal ovary with HBOT. PCO was induced by a single intramuscular injection of 4 mg EV in adult cycling rats. Other rats with normal ovaries had oil injection as placebo. HBOT was applied to third and fourth groups for six weeks. Histopathologic evaluation of ovaries of all groups were performed & compared. Results Six weeks of HBOT was resulted in increase in follicular atresia, decrease in the number of primary, secondary, tertiary follicles and decrease in the number of fresh corpus luteum in normal rat ovary. HBOT on polycystic rat ovary, resulted in significant increase in atretic follicles which were already present. Conclusions HBOT of six weeks itself, changed ovarian morphology in favor of atresia both in PCO group and control group. This result of aggravated follicular atresia after HBOT on EV induced PCO may be due to long-term exposure in our protocol which with this state seems to be inapplicable in the improvement of PCO morphology. PMID:22309835

  5. Congenital granular cell epulis.

    PubMed

    Conrad, Rachel; Perez, Mia C N

    2014-01-01

    Congenital granular cell epulis is a rarely reported lesion of unknown histogenesis with a strong predilection for the maxillary alveolar ridge of newborn girls. Microscopically, it demonstrates nests of polygonal cells with granular cytoplasm, a prominent capillary network, and attenuated overlying squamous epithelium. The lesion lacks immunoreactivity for S-100, laminin, chromogranin, and most other markers except neuron-specific enolase and vimentin. Through careful observation of its unique clinical, histopathologic, and immunohistochemical features, this lesion can be distinguished from the more common adult granular cell tumor as well as other differential diagnoses.

  6. Neonatal congenital microvillus atrophy

    PubMed Central

    Pecache, N; Patole, S; Hagan, R; Hill, D; Charles, A; Papadimitriou, J

    2004-01-01

    Congenital microvillous atrophy (CMVA) is the leading cause of neonatal secretory diarrhoea with onset either in the first 72 hours of life (early onset) or at 6–8 weeks after birth (late onset). To date over 30 cases have been reported worldwide. The prognosis for this life threatening condition continues to be poor. Therapeutic agents like somatostatin and epidermal growth factor are either ineffective or of marginal benefit. Overall five year survival after small bowel transplantation is currently ∼50%. The following brief review is aimed towards helping neonatologists/perinatologists in the early diagnosis, and management of CMVA and in counselling the parents appropriately. PMID:14970294

  7. [Congenital linear nevus sebaceus].

    PubMed

    Linnemann, Anders; Bygum, Anette; Fenger-Grøn, Jesper

    2011-09-01

    An unusual case of nevus sebaceous is described. Nevus sebaceous is a congenital epidermal hamartoma of the skin and the predilection site is the head or neck. In this case the nevus followed the lines of Blaschko along the back of the left lower extremity. The linear lesion seemed papulovesicular which caused suspicion of incontinentia pigmenti or infection, and the boy received antimicrobial treatment until a biopsy revealed the correct diagnosis. We wish to emphasize this clinical picture to spare the patient and relatives from unnecessary tests, treatment and concern. PMID:21893006

  8. Congenital anterior urethral diverticulum.

    PubMed

    Singh, Sanjeet Kumar; Ansari, Ms

    2014-09-01

    Congenital anterior urethral diverticulum (CAUD) may be found all along the anterior urethra and may present itself at any age, from infant to adult. Most children with this condition present with difficulty in initiating micturition, dribbling of urine, poor urinary stream, or urinary tract infection. A careful history will reveal that these children never had a good urinary stream since birth, and the telltale sign is a cystic swelling of the penile urethra. In this paper, we present two cases of CAUD that were managed by excision of the diverticulum with primary repair. PMID:26328174

  9. Bronchial reactivity to histamine before and after sodium cromoglycate in bronchial asthma.

    PubMed Central

    Kang, B; Townley, R G; Lee, C K; Miller Kolotkin, B

    1976-01-01

    Out of 19 patients with extrinsic bronchial asthma challenged with 123 mug histamine acid phosphate by intravenous infusion only 13 responded with a fall in FEV1 of over 10% (mean 16%). Seventeen of these patients were given histamine 2 mg/ml by aerosol, and all responded with a mean decrease in FEV1 of 37.8%. When challenged with allergen extract by aerosol the mean decrease in FEV1 was 37.5%. After 40 mg sodium cromoglycate 15 of the 17 patients showed significant protection against allergen challenge with a mean decrease in FEV1 of only 23.6%. Inhalation of 40 mg sodium cromoglycate, however, failed to protect against histamine given by either the intravenous or aerosol route. Histamine given intravenously to asthmatic patients produces less of a bronchial response than when given by aerosol, even though the intravenous route produces many more systemic symptoms, such as flushing and throbbing headache. The protection of sodium cromoglycate against an allergen inhalation challenge is not due to histamine antagonsim. PMID:816411

  10. Methoxychlor-induced atresia in the mouse involves Bcl-2 family members, but not gonadotropins or estradiol.

    PubMed

    Borgeest, Christina; Miller, Kimberly P; Gupta, Rupesh; Greenfeld, Chuck; Hruska, Kathleen S; Hoyer, Patricia; Flaws, Jodi A

    2004-06-01

    Methoxychlor (MXC) is an organochlorine pesticide that increases the rate of ovarian atresia. To date, little is known about the mechanism by which MXC induces atresia. Because Bcl-2 (an antiapoptotic factor), Bax (a proapoptotic factor), gonadotropins, and estradiol are important regulators of atresia in the ovary, the purpose of this study was first to examine whether MXC-induced atresia occurred through alterations in Bcl-2 or Bax, and second, to examine the effect of MXC on gonadotropins, estradiol, and their receptors. CD-1 mice were dosed with 8-64 mg kg(-1) day(-1) MXC or vehicle (sesame oil). Ovaries were subjected to analysis of antral follicle numbers, Bcl-2, Bax, estrogen receptor, and follicle-stimulating hormone receptor levels. Blood was used to measure gonadotropins and estradiol. In some experiments, mice that overexpressed Bcl-2 or mice that were deficient in Bax were dosed with MXC or vehicle and their ovaries were analyzed for atresia. MXC caused a dose-dependent increase in the percentage of atretic antral follicles compared with controls at the 32 and 64 mg kg(-1) day(-1) doses of MXC. MXC treatment did not result in changes in Bcl-2 levels, but it did result in an increase in Bax levels in antral follicles. MXC treatment did not affect gonadotropin or estradiol levels, nor did it affect the levels of follicle-stimulating hormone or estrogen receptors. Mice that overexpressed Bcl-2 or mice that were deficient in Bax were protected from MXC-induced atresia. These data suggest that MXC induces atresia through direct effects on the Bax and Bcl-2 signaling pathways in the ovary.

  11. Short-term neurodevelopmental outcome of babies operated on for low-risk esophageal atresia: a pilot study.

    PubMed

    Aite, L; Bevilacqua, F; Zaccara, A; Ravà, L; Valfrè, L; Conforti, A; Braguglia, A; Bagolan, P

    2014-01-01

    Data on the neurodevelopmental outcome of esophageal atresia (EA) survivors are scarce, controversial, and based on small samples. This is an observational prospective longitudinal study on a selected cohort of low-risk EA survivors. We considered a low-risk EA survivor a patient with the following characteristics: gestational age >32 weeks, no long gap, no genetic or chromosomic anomaly associated with neurodevelopmental delay, and no further major surgical congenital anomalies. Infants were evaluated with scales derived from the Bayley Scales of Infant and Toddler Development - 3rd Edition at 6 and 12 months, with a score of 100 considered normal for each scale. Analysis of variance was used to assess differences of cognitive and motor development. Linear regression was used to assess the impact of the following clinical and sociodemographic variables: gender, birthweight, gestational age, length of hospital stay, number of surgeries and number of esophageal dilatations during first hospitalization, days of mechanical ventilation, weight at follow up, number of surgeries and esophageal dilatations at follow up, parental age, educational level, and socioeconomic status. Thirty children form the object of the study. The mean (standard deviation [SD]) cognitive scale's score was 93.7 (7.5) and 98.2 (9.6) at 6 and 12 months, respectively (P < 0.05). The mean (SD) motor scale's score was 97.6 (9.3) and 98.0 (12.1) at 6 and 12 months, respectively (P = n.s.). Children with a body weight <5° percentile at 12 months showed a mean (SD) cognitive score significantly lower when compared with those with a body weight >5° percentile: 88.8 (6.3) and 100.5 (8.9), respectively. At 12 months, children with unemployed mothers had a mean (SD) motor score significantly lower when compared with those in the other socioeconomic classes: 87.7 (9.8) and 100.6 (12.4), respectively. In conclusion, parents of babies operated on for low-risk EA can be reassured about neurodevelopmental

  12. [Enzymopathic congenital hyperlactacidemia].

    PubMed

    Leroux, J P; Marsac, C; Saudubray, J M

    1976-01-01

    Congenital enzymopathic hyperlactacidemia results from a defect of utilisation of pyruvate either at the level of the pyruvate junction (pyruvate-carboxylase, pyruvate-dehydrogenase and Kreb's cycle), or at the level of the unidirectional enzymes on neo-glucogenesis and of neo-glycogenogenesis, e.g. glucose-6-phosphatase, phosphoenol-pyruvate-carboxykinase and glycogen synthetase. The enzymopathies which affect neoglucogenesis associate hyper-lactacidemia and fasting hypoglycemia and more or less marked hepatomegaly. Type I glycogenesis (von Gierke's disease) is the best known example. Enzymopathies which affect the pyruvate junction and the Krebs cycle, may be manifested in addition by: --either chronic neuropathies, e.g. Leigh's disease, recurrent ataxia, and moderate hyperalactacidemia,--or, as in congenital lactic acidoses, which have a rapid and severe prognosis with major hyperlactacidemia. Functional investigation, in particular, loading tests are of great value in orientation and justify the practice of tissue biopsy which permits the enzyme diagnosis. Recent, still unconfirmed knowledge of the pathogenesis of these diseases emphasizes the considerable importance of estimation of blood lactic acid in the investigation of metabolic acidoses of hereditary origin. PMID:184725

  13. Congenital Cytomegalovirus Infection.

    PubMed

    Bale, James F.; Miner, Lonnie; Petheram, Susan J.

    2002-05-01

    Intrauterine infection with cytomegalovirus (CMV), a betaherpesvirus, remains the most frequent congenital virus infection in many regions of the world. Although most CMV-infected newborns lack signs of CMV infection, approximately 10% have signs that can consist of low birth weight, jaundice, hepatosplenomegaly, skin rash, microcephaly, and chorioretinitis. Neonates with signs of CMV infection at birth have high rates of audiologic and neurodevelopmental sequelae. Although postnatal therapy with ganciclovir transiently reduces virus shedding and may lessen the audiologic consequences of CMV in some infected infants, additional strategies are needed to prevent congenital CMV disease and to improve the neurodevelopmental prognosis of infants infected with CMV in utero. Some cases of intrauterine infections can be prevented in susceptible women by avoiding contact with the urine or saliva of young children who may be shedding CMV. Vaccines against CMV remain in the experimental stages of development. Termination of pregnancy can be offered to women whose infants have evidence of intrauterine CMV infection and sonographic signs of central nervous system damage. Infants who survive symptomatic intrauterine infections have high rates of neurodevelopmental sequelae and require comprehensive evaluation and therapy through center and home-based early intervention programs. PMID:11931729

  14. [Genetics of congenital lipodystrophies].

    PubMed

    Buffet, A; Lombes, M; Caron, P

    2015-10-01

    Congenital lipodystrophies are heterogeneous genetic diseases, leading to the loss of adipose tissue. This loss of adipose tissue can be generalized or partial, thus defining different phenotypes. These lipodystrophies have a major metabolic impact, secondary to lipotoxicity. This lipotoxicity is responsible for insulin resistance, dyslipidemia and hepatic steatosis. The severity of the metabolic impact correlates with the severity of the loss of adipose tissue. Mutations in 15 predisposition genes are currently described; BSCL2 and AGPT2 genes are the major genes in the generalized forms. On the contrary, LMNA and PPARG gene mutations are recovered in partial lipodystrophies forms. These different genes encode for proteins involved in adipocyte physiology, altering adipocyte differentiation, triglycerides synthesis and lysis or playing a major role in the lipid droplet formation. Congenital lipodystrophies treatment is based on the management of metabolic comorbidities but recombinant leptin therapy appears to have promising results. These different points have been recently discussed during the 2015 Endocrine Society Congress, notably by S. O'Rahilly and are highlighted in this review.

  15. [Genetics of congenital deafness].

    PubMed

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia

    2012-10-20

    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  16. Eosinophilic Pneumonia in a Patient with Bronchial Myiasis

    PubMed Central

    Aich, Arindom; Al-Ismaili, Suad; Ramadhan, Fatma A.; Al-Wardi, Talal H. M.; Al-Salmi, Quasem; Al-Hashami, Hilal

    2015-01-01

    Pulmonary myiasis is an unusual form of myiasis in humans and has been recently identified as a cause of eosinophilic pneumonia. We report the case of a 13-year-old Omani boy who presented to the Royal Hospital, Muscat, Oman, in October 2014 with respiratory distress. Bronchial aspirates revealed features of eosinophilic pneumonia. Possible larvae identified in the cytology report, a high immunoglobulin E level and the patient history all indicated bronchial myiasis. The patient was treated with steroids and ventilation and has since been disease-free with no long-term side-effects. To the best of the authors’ knowledge, this is the first case of bronchial myiasis in Oman. PMID:26629385

  17. 21 CFR 868.5740 - Tracheal/bronchial differential ventilation tube.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Tracheal/bronchial differential ventilation tube.../bronchial differential ventilation tube. (a) Identification. A tracheal/bronchial differential ventilation tube is a device used to isolate the left or the right lung of a patient for anesthesia or...

  18. 21 CFR 868.5740 - Tracheal/bronchial differential ventilation tube.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Tracheal/bronchial differential ventilation tube.../bronchial differential ventilation tube. (a) Identification. A tracheal/bronchial differential ventilation tube is a device used to isolate the left or the right lung of a patient for anesthesia or...

  19. 21 CFR 868.5740 - Tracheal/bronchial differential ventilation tube.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Tracheal/bronchial differential ventilation tube.../bronchial differential ventilation tube. (a) Identification. A tracheal/bronchial differential ventilation tube is a device used to isolate the left or the right lung of a patient for anesthesia or...

  20. 21 CFR 868.5740 - Tracheal/bronchial differential ventilation tube.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Tracheal/bronchial differential ventilation tube.../bronchial differential ventilation tube. (a) Identification. A tracheal/bronchial differential ventilation tube is a device used to isolate the left or the right lung of a patient for anesthesia or...

  1. 21 CFR 868.5740 - Tracheal/bronchial differential ventilation tube.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Tracheal/bronchial differential ventilation tube.../bronchial differential ventilation tube. (a) Identification. A tracheal/bronchial differential ventilation tube is a device used to isolate the left or the right lung of a patient for anesthesia or...

  2. Seasonal and allergenic predictors of bronchial responsiveness to distilled water.

    PubMed

    Studnicka, M J; Frischer, T; Weiss, S T; Dockery, D W; Speizer, F E; Neumann, M G

    1993-12-01

    To evaluate a possible seasonal change in bronchial responsiveness and the relation of such change to atopy, we administered 2,537 bronchial challenge tests in winter and spring to a dynamic population cohort of children 7 to 10 yr of age. The bronchial challenge test consisted of 10 min of tidal inhalation of an aerosol of ultrasonically nebulized distilled water; the resulting percentage decrease in FEV1 (dFEV1%) was recorded. Atopy was determined on the basis of skin-test positivity (any wheal with a diameter greater than that obtained with a positive control) to seven allergens (cat dander, dog dander, house-dust mite, birch, raygrass, orchard grass, and Alternaria). Greater bronchial responsiveness in winter was independently and significantly predicted by a physician's diagnosis of asthma (difference in dFEV1%, 5.6; 95% confidence intervals [95% CI], 2.8 to 8.5; p = 0.0001) and by shortness of breath (difference in dFEV1%, 4.2; 95% CI, 2.1 to 6.3; p = 0.0001). These factors were also predictive of greater responsiveness in the spring, as was atopy (difference in dFEV1%, 3.2; 95% CI, 1.8 to 4.6; p = 0.0001). Analysis of specific allergens further revealed that reactivity to perennial allergens (house-dust mite, cat dander) was predictive of bronchial responsiveness in both winter and spring. However, the change in responsiveness between seasons was most significantly predicted by allergy to seasonal grass pollen, i.e., ragweed or orchard grass (change in dFEV1%, 2.6; 95% CI, 0.6 to 4.5; p = 0.01). In summary, our study demonstrates increased bronchial responsiveness in spring among children allergic to grass pollen.(ABSTRACT TRUNCATED AT 250 WORDS)

  3. A case of systemic polyarteritis nodosa involving bronchial artery.

    PubMed

    Lee, Y J; Park, S S; Kim, S Y; Lee, J Y; Koo, H K; Yoon, H I

    2010-07-01

    Polyarteritis nodosa (PAN) is a systemic necrotizing vasculitis involving predominantly medium-sized muscular arteries. It commonly involves skin, kidney, cardiovascular system, gastrointestinal system, and neurological system. But bronchial artery involvement of PAN is rarely identified. We report a case of PAN with initial presentation of hemoptysis. On admission, chest radiograph and chest CT angiography revealed no focus of bleeding. Angiography showed a bronchial artery aneurysm and multiple arterial aneurysms in both renal, hepatic, mesenteric and branches of small bowel arteries. These findings were compatible with the diagnosis of PAN. The patient was started on steroid and cyclophosphamide.

  4. Congenital myopathies and muscular dystrophies.

    PubMed

    Gilbreath, Heather R; Castro, Diana; Iannaccone, Susan T

    2014-08-01

    The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first year of life), genetic causes, and high risks for restrictive lung disease and orthopedic deformities. Understanding for disease mechanism is available and a fairly well-structured genotype-phenotype correlation for all the CMDs and CMs is now available. To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopathy.

  5. Congenital myopathies and muscular dystrophies.

    PubMed

    Gilbreath, Heather R; Castro, Diana; Iannaccone, Susan T

    2014-08-01

    The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first year of life), genetic causes, and high risks for restrictive lung disease and orthopedic deformities. Understanding for disease mechanism is available and a fairly well-structured genotype-phenotype correlation for all the CMDs and CMs is now available. To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopathy. PMID:25037085

  6. Congenital Self-Healing Reticulohistiocytosis

    PubMed Central

    Lee, Young H.; Talekar, Mala K.; Chung, Catherine G.; Bell, Moshe D.

    2014-01-01

    Congenital self-healing reticulohistiocytosis, also known as congenital self-healing Langerhans cell histiocytosis or Hashimoto-Pritzker disease, is a Langerhans cell histiocytosis. It is characterized by skin lesions in the newborn period in an otherwise healthy infant that show a Langerhans cell infiltrate in the skin on histological analysis. These findings subsequently spontaneously involute. This report describes two newborns who presented at birth with differing presentations of congenital self-healing reticulohistiocytosis. A review of the disorder, including diagnosis and evaluation, is presented. PMID:24578781

  7. Congenital sensorineural hearing loss

    SciTech Connect

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  8. Congenital mirror movements.

    PubMed Central

    Schott, G D; Wyke, M A

    1981-01-01

    In this report are described seven patients assessed clinically and neuropsychologically in whom mirror movements affecting predominantly the hands occurred as a congenital disorder. These mirror movements, representing a specific type of abnormal synkinesia, may arise as a hereditary condition, in the presence of a recognisable underlying neurological abnormality, and sporadically, and the seven patients provide more or less satisfactory examples of each of these three groups. Despite the apparent uniformity of the disorder, the heterogeneity and variability may be marked, examples in some of our patients including the pronounced increase in tone that developed with arm movement, and the capacity for modulation of the associated movement by alteration of neck position and bio-feedback. Various possible mechanisms are considered; these include impaired cerebral inhibition of unwanted movements, and functioning of abnormal motor pathways. Emphasis has been placed on the putative role of the direct, crossed corticomotoneurone pathways and on the unilateral and bilateral cerebral events that precede movement. PMID:7288446

  9. Congenital erythropoietic porphyria.

    PubMed

    Fritsch, C; Lang, K; Bolsen, K; Lehmann, P; Ruzicka, T

    1998-01-01

    Congenital erythropoietic porphyria (CEP) is one of the rarest autosomal-recessive disorders of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen III cosynthase. High amounts of uroporphyrin I accumulate in all cells and tissues, reflected by an increased erythrocyte porphyrin concentration and excretion of high porphyrin amounts in urine and feces. Dermal deposits of uroporphyrin frequently induce a dramatic phototoxic oxygen-dependent skin damage with extensive ulcerations and mutilations. Splenomegaly and hemolytic anemia are typical internal symptoms. Skeletal changes such as osteolysis and calcifications are frequent. Up to date 130 cases of CEP have been published. Splenectomy and erythrocyte transfusions showed some beneficial effect. Bone marrow transplantation was performed in 3 patients and stem cell transplantation in 1. The best therapy is the avoidance of sunlight. We give a report on our latest cases of CEP. PMID:10343205

  10. Successful cord blood transplantation in an adult acute lymphoblastic leukemia patient with congenital heart disease.

    PubMed

    Kowata, Shugo; Fujishima, Yukiteru; Suzuki, Yuzo; Tsukushi, Yasuhiko; Oyake, Tatsuo; Togawa, Ryou; Oyama, Kotaro; Ikai, Akio; Ito, Shigeki; Ishida, Yoji

    2016-08-01

    Recent advances in surgical corrections and supportive care for congenital heart disease have resulted in increasing numbers of adult survivors who may develop hematological malignancies. Treatments including chemotherapy for such patients may cause serious hemodynamic or cardiac complications, especially in those receiving stem cell transplantation. We present a 29-year-old woman with acute lymphoblastic leukemia and congenital heart disease. She had been diagnosed with pulmonary atresia with an intact ventricular septum at birth, and the anomaly was surgically corrected according to the Fontan technique at age 9 years. Her induction chemotherapy required modifications due to poor cardiac status with Fontan circulation. However, after surgical procedures including total cavopulmonary connection and aortic valve replacement at first complete remission, her cardiac status was significantly improved. Subsequently, she underwent cord blood stem cell transplantation at the third complete remission. She required intensive supportive care for circulatory failure as a pre-engraftment immune reaction and stage III acute graft versus host disease of the gut, but recovered from these complications. She was discharged on day 239, and remained in complete remission at 1-year post-transplantation. PMID:27599417

  11. Computed tomography and magnetic resonance imaging of the coronary sinus: anatomic variants and congenital anomalies.

    PubMed

    Chen, Yingming Amy; Nguyen, Elsie T; Dennie, Carole; Wald, Rachel M; Crean, Andrew M; Yoo, Shi-Joon; Jimenez-Juan, Laura

    2014-10-01

    The coronary sinus (CS) is an important vascular structure that allows for access into the coronary veins in multiple interventional cardiology procedures, including catheter ablation of arrhythmias, pacemaker implantation and retrograde cardioplegia. The success of these procedures is facilitated by the knowledge of the CS anatomy, in particular the recognition of its variants and anomalies. This pictorial essay reviews the spectrum of CS anomalies, with particular attention to the distinction between clinically benign variants and life-threatening defects. Emphasis will be placed on the important role of cardiac CT and cardiovascular magnetic resonance in providing detailed anatomic and functional information of the CS and its relationship to surrounding cardiac structures. Teaching Points • Cardiac CT and cardiovascular magnetic resonance offer 3D high-resolution mapping of the coronary sinus in pre-surgical planning.• Congenital coronary sinus enlargement occurs in the presence or absence of a left-to-right shunt.• Lack of recognition of coronary sinus anomalies can lead to adverse outcomes in cardiac procedures.• In coronary sinus ostial atresia, coronary venous drainage to the atria occurs via Thebesian or septal veins.• Coronary sinus diverticulum is a congenital outpouching of the coronary sinus and may predispose to cardiac arrhythmias.

  12. Methoxychlor directly affects ovarian antral follicle growth and atresia through Bcl-2- and Bax-mediated pathways.

    PubMed

    Miller, Kimberly P; Gupta, Rupesh K; Greenfeld, Chuck R; Babus, Janice K; Flaws, Jodi A

    2005-11-01

    Methoxychlor (MXC) is an organochlorine pesticide and reproductive toxicant. While in vivo studies indicate that MXC exposure increases antral follicle atresia, in part by altering apoptotic regulators (Bcl-2 and Bax), they do not distinguish whether MXC does so via direct or indirect mechanisms. Therefore, we utilized an in vitro follicle culture system to test the hypothesis that MXC is directly toxic to antral follicles, and that overexpression of anti-apoptotic Bcl-2, or deletion of pro-apoptotic Bax, protects antral follicles from MXC-induced toxicity. Antral follicles were isolated from wild-type (WT), Bcl-2 overexpressing (Bcl-2 OE), or Bax deficient (BaxKO) mice, and exposed to dimethylsulfoxide (control) or MXC (1-100 microg/ml) for 96 h. Follicle diameters were measured every 24 h to assess growth. After 96 h, follicles were histologically evaluated for atresia or collected for quantitative PCR analysis of Bcl-2 and Bax mRNA levels. MXC (10-100 microg/ml) significantly inhibited antral follicle growth at 72 and 96 h, and increased atresia (100 microg/ml) compared to controls at 96 h. Furthermore, MXC increased Bax mRNA levels between 48-96 h and decreased Bcl-2 mRNA levels at 96 h. While MXC inhibited growth of WT antral follicles beginning at 72 h, it did not inhibit growth of Bcl-2 OE or BaxKO follicles until 96 h. MXC also increased atresia of small and large WT and BaxKO antral follicles over controls, but it did not increase atresia of large Bcl-2 OE antral follicles over controls. These data suggest that MXC directly inhibits follicle growth partly by Bcl-2 and Bax pathways, and increases atresia partly through Bcl-2 pathways.

  13. Alterations in gene expression during fasting-induced atresia of early secondary ovarian follicles of coho salmon, Oncorhynchus kisutch.

    PubMed

    Yamamoto, Yoji; Luckenbach, J Adam; Young, Graham; Swanson, Penny

    2016-11-01

    Molecular processes that either regulate ovarian atresia or are consequences of atresia are poorly understood in teleost fishes. We hypothesized that feed restriction that perturbs normal ovarian growth and induces follicular atresia would alter ovarian gene expression patterns. Previtellogenic, two-year old coho salmon (Oncorhynchus kisutch) were subjected to prolonged fasting to induce atresia or maintained on a normal feeding schedule that would promote continued ovarian development. To identify genes that were specifically up- or down-regulated during oocyte growth in healthy, growing fish compared to fasted fish, reciprocal suppression subtractive hybridization (SSH) cDNA libraries were generated using ovaries from fed and fasted animals. Differential expression of genes identified by SSH was confirmed with quantitative PCR. The SSH library representing genes elevated in ovaries of fed fish relative to those of fasted fish contained steroidogenesis-related genes (e.g., hydroxy-delta-5-steroid dehydrogenase), Tgf-beta superfamily members (e.g., anti-Mullerian hormone) and cytoskeletal intermediate filament proteins (e.g., type I keratin s8). Overall, these genes were associated with steroid production, cell proliferation and differentiation, and ovarian epithelialization. The library representing genes elevated in ovaries of fasted fish relative to fed fish contained genes associated with apoptosis (e.g., programmed cell death protein 4), cortical alveoli (e.g., alveolin), the zona pellucida (e.g., zona pellucida protein c), and microtubules (e.g., microtubule associated protein tau). Elevated expression of this suite of genes was likely associated with the initiation of atresia and/or a reduced rate of follicle development in response to fasting. This study revealed ovarian genes involved in normal early secondary oocyte growth and potential early markers of atresia.

  14. Alterations in gene expression during fasting-induced atresia of early secondary ovarian follicles of coho salmon, Oncorhynchus kisutch.

    PubMed

    Yamamoto, Yoji; Luckenbach, J Adam; Young, Graham; Swanson, Penny

    2016-11-01

    Molecular processes that either regulate ovarian atresia or are consequences of atresia are poorly understood in teleost fishes. We hypothesized that feed restriction that perturbs normal ovarian growth and induces follicular atresia would alter ovarian gene expression patterns. Previtellogenic, two-year old coho salmon (Oncorhynchus kisutch) were subjected to prolonged fasting to induce atresia or maintained on a normal feeding schedule that would promote continued ovarian development. To identify genes that were specifically up- or down-regulated during oocyte growth in healthy, growing fish compared to fasted fish, reciprocal suppression subtractive hybridization (SSH) cDNA libraries were generated using ovaries from fed and fasted animals. Differential expression of genes identified by SSH was confirmed with quantitative PCR. The SSH library representing genes elevated in ovaries of fed fish relative to those of fasted fish contained steroidogenesis-related genes (e.g., hydroxy-delta-5-steroid dehydrogenase), Tgf-beta superfamily members (e.g., anti-Mullerian hormone) and cytoskeletal intermediate filament proteins (e.g., type I keratin s8). Overall, these genes were associated with steroid production, cell proliferation and differentiation, and ovarian epithelialization. The library representing genes elevated in ovaries of fasted fish relative to fed fish contained genes associated with apoptosis (e.g., programmed cell death protein 4), cortical alveoli (e.g., alveolin), the zona pellucida (e.g., zona pellucida protein c), and microtubules (e.g., microtubule associated protein tau). Elevated expression of this suite of genes was likely associated with the initiation of atresia and/or a reduced rate of follicle development in response to fasting. This study revealed ovarian genes involved in normal early secondary oocyte growth and potential early markers of atresia. PMID:27320185

  15. Comparison of bronchial brushing and sputum in detection of pediatric pulmonary tuberculosis.

    PubMed

    Chen, Qiao-Pei; Ren, Shi-Feng; Wang, Xin-Feng; Wang, Mao-Shui

    2016-01-27

    The retrospective study aimed to evaluate the diagnostic value of bronchial brushing and sputum using acid fast bacilli smear, mycobacterial culture and real-time PCR in detection of pediatric pulmonary tuberculosis, sensitivity and specificity of bronchial brushing and sputum examined by the three methods were calculated and compared to each other. Data showed there were no significant difference in sensitivity between bronchial brushing and matched sputum using each method. But the specificity of real-time PCR on bronchial brushing was lower than on sputum. Compared with bronchial brushing, sputum was better specimen in detection of pediatric pulmonary tuberculosis.

  16. Venous Myocardial Infarction in an Infant with Obstructed Totally Anomalous Pulmonary Venous Drainage and Coronary Sinus Ostial Atresia

    PubMed Central

    Prasad, Deepa; Strainic, James P.; Pandya, Khyati; Kouretas, Peter C.

    2016-01-01

    We report a rare causal association between obstructed supracardiac totally anomalous pulmonary venous drainage and coronary sinus ostial atresia. Our 12-week-old patient developed venous myocardial infarction secondary to coronary venous hypertension because her sole route of coronary venous drainage was obstructed. She recovered after the obstruction was relieved by balloon dilation. Surgical repair then included anastomosis of the pulmonary venous confluence to the left atrium, ligation of the vertical vein, and unroofing of the coronary sinus. Coronary sinus ostial atresia is rarely diagnosed before autopsy. PMID:27777530

  17. Transcriptome Profiling of the Theca Interna from Bovine Ovarian Follicles during Atresia

    PubMed Central

    Hatzirodos, Nicholas; Irving-Rodgers, Helen F.; Hummitzsch, Katja; Rodgers, Raymond J.

    2014-01-01

    The theca interna is a specialized stromal layer that envelops each growing ovarian follicle. It contains capillaries, fibroblasts, immune cells and the steroidogenic cells that synthesize androgens for conversion to estradiol by the neighboring granulosa cells. During reproductive life only a small number of follicles will grow to a sufficient size to ovulate, whereas the majority of follicles will undergo regression/atresia and phagocytosis by macrophages. To identify genes which are differentially regulated in the theca interna during follicular atresia, we undertook transcriptome profiling of the theca interna from healthy (n = 10) and antral atretic (n = 5) bovine follicles at early antral stages (<5 mm). Principal Component Analyses and hierarchical classification of the signal intensity plots for the arrays showed primary clustering into two groups, healthy and atretic. A total of 543 probe sets were differentially expressed between the atretic and healthy theca interna. Further analyses of these genes by Ingenuity Pathway Analysis and Gene Ontology Enrichment Analysis Toolkit software found most of the genes being expressed were related to cytokines, hormones and receptors as well as the cell cycle and DNA replication. Cell cycle genes which encode components of the replicating chromosome complex and mitotic spindle were down-regulated in atretic theca interna, whereas stress response and inflammation-related genes such as TP53, IKBKB and TGFB1 were up-regulated. In addition to cell cycle regulators, upstream regulators that were predicted to be inhibited included Retinoblastoma 1, E2 transcription factor 1, and hepatocyte growth factor. Our study suggests that during antral atresia of small follicles in the theca interna, arrest of cell cycle and DNA replication occurs rather than up- regulation of apoptosis-associated genes as occurs in granulosa cells. PMID:24956388

  18. Effects of melatonin on follicular atresia and granulosa cell apoptosis in the porcine.

    PubMed

    He, Yamei; Deng, Honghui; Jiang, Zhongliang; Li, Qingwang; Shi, Meihong; Chen, Huali; Han, Zengsheng

    2016-08-01

    The accumulation of reactive oxygen species is detrimental to the health of the ovarian follicle. The protective, antioxidant properties of melatonin, an endogenous component of porcine follicular fluid, on apoptosis of granulosa cells were evaluated in this study. Porcine granulosa cells from medium-sized (3-5 mm), healthy follicles were cultured in serum-free conditions with melatonin (0, 0.01, 0.1, 1.0, 10, and 100 ng/mL) with or without its receptor antagonist, luzindole, followed by evaluation of apoptotic markers in the treated cells. Results revealed that endogenous, intrafollicular melatonin concentration decreased as follicular atresia progressed, whereas the percentage of apoptotic granulosa cells increased. Spontaneous apoptosis of granulosa cells, triggered by serum deprivation in vitro, was remarkably blocked by melatonin (1.0 ng/mL melatonin, 32.7 ± 0.5%, vs. control, 47.0 ± 1.0%; P < 0.05). Treatment with 1.0 ng/mL of melatonin also significantly elevated MT2, SOD1, and GPX4 while lowering FASL, CHOP, and GRP78 mRNA abundance compared to the untreated control. The anti-apoptotic effect and some changes of apoptotic-relevant genes in granulosa cells invoked by melatonin supplementation were markedly blocked by luzindole, suggesting that melatonin could prevent the apoptosis of porcine granulosa cells during follicular atresia via its membrane receptors and its free-radical-scavenging activity. These findings provide new insights into the regulatory mechanism of melatonin in follicular atresia-related functions. Mol. Reprod. Dev. 83: 692-700, 2016 © 2016 Wiley Periodicals, Inc. PMID:27391761

  19. Temporal and topographic changes in DNA synthesis after induced follicular atresia

    SciTech Connect

    Greenwald, G.S. )

    1989-07-01

    Hamsters were hypophysectomized on the morning of estrus (Day 1) and injected immediately with 30 IU pregnant mare's serum (PMS). This was followed on Day 4 by the injection of an antiserum to PMS (PMS-AS) that initiated follicular atresia (Time zero). From 0 to 72 h after PMS-AS, the animals were injected with (3H)thymidine and killed 4 h later. One ovary was saved for autoradiography and histology; from the other ovary, 5-10 large antral follicles were dissected and pooled, and incorporation into DNA was determined by scintillation counting. DNA synthesis dropped sharply between 12 and 18 h, coinciding with a fall in labeling index of the cumulus oophorus and thecal endothelial cells and a sharp fall in thecal vascularity. In contrast, for the mural granulosa cells bordering on the antral cavity, labeling index dropped sharply between 8 and 12 h when thecal vascularity was still high. The earliest sign of atresia was evident by 4 h in cumulus cells when, paradoxically, DNA synthesis was still high. It took 3 days for atresia of the antral follicles to progress to advanced stages, as evidenced by pseudo-pronuclei in the free floating ovum, further erosion of the mural granulosa, and minimal DNA/follicle. However, the theca still retained its histological integrity and contained no pyknotic cells. Although by 48 h the granulosal compartment was in disarray (DNA/follicle significantly different from earlier values), the egg was still viable, as judged by maximal fluorescence after the addition of fluoroscein diacetate.

  20. Characterization of glycoside residues of porcine zona pellucida and ooplasm during follicular development and atresia.

    PubMed

    Pastor, Luis M; Lucas, Xiomara; Pallares, Jacinto; Bernal-Mañas, Carmen M; Martinez, Emilio A; Roca, Jordi; Vazquez, Juan Maria; Morales, Eva; Beltran, Esther; Zuasti, Adelina; Ferrer, Concepcion

    2008-09-01

    The glycoside residues (glycoconjugates, GC) of the zona pellucida (ZP) glycoproteins are important during the first phases of fecundation. Our aim in this work was to determine the lectin affinity pattern of porcine ZP in order to analyze the changes that take place during: (a) preantral folliculogenesis, (b) the follicular atresia process, and (c) antral growth. Several prepubertal and adult pig ovaries and different sized antral follicles were used. Conventional carbohydrate histochemical techniques and peroxidase and digoxigenin (DIG) lectins were used to reveal the acid groups and the glycosidic residues of the ZP. It was seen that the ZP forms in the preantral follicles throughout their growth period. In primordial and primary follicles, ZP in the process of formation showed neutral GC. SBA, RCA-I, MAA, WGA lectins, and AAA after methylation-saponification (MS) were positive in the ZP of primordial and primary follicles. The affinity for SBA, RCA-I, MAA, and WGA increased in the multilaminar-primary follicles and new affinities for UEA-I and LFA were observed. After MS, AAA, SNA, PNA, and SBA reactivity was observed. The ZP of antral follicle oocytes of different sizes showed the same lectin pattern as multilaminar-primary follicles. The oocyte ooplasm and the follicular fluid of large antral follicles showed less affinity for WGA and LFA lectins and less intensive staining with AB (pH 2.5). Atresia did not change the antral or preantral follicle oocyte ZP lectin pattern. In conclusion, the follicles showed substantial changes in their ZP glycosidic composition as they developed, especially, during the change from primary to multilaminar-primary follicles. The ZP glycosidic composition showed no significant change during the growth of antral follicles and follicular atresia in our study.

  1. Outcomes at One-Year Post Anastomosis from a National Cohort of Infants with Oesophageal Atresia

    PubMed Central

    Allin, Benjamin; Knight, Marian; Johnson, Paul; Burge, David

    2014-01-01

    Background and Aims We aimed to provide a contemporaneous assessment of outcomes at one-year post oesophageal atresia/tracheoesophageal fistula (OA-TOF) repair, focussing particularly on post-operative complications. It is generally accepted that oesophageal stricture is the most common complication and causes significant morbidity. We also aimed to assess the efficacy of prophylactic anti-reflux medication (PARM) in reducing stricture formation. Method A prospective, multi-centre cohort study of all infants live-born with oesophageal atresia in the United Kingdom and Ireland in 2008/9 was performed, recording clinical management and outcomes at one year. The effect of PARM on stricture formation in infants with the type-c anomaly was assessed using logistic regression analysis. Results 151 infants were live-born with oesophageal atresia in the defined reporting period, 126 of whom had the type-c anomaly. One-year follow-up information was returned for 105 infants (70%); the mortality rate was 8.6% (95% CI 4.7–14.3%). Post-operative complications included anastomotic leak (5.4%), recurrent fistula (3.3%) and oesophageal stricture (39%). Seventy-six (60%) of those with type-c anomaly were alive at one-year with returned follow-up, 57(75%) of whom had received PARM. Of these, 24 (42%) developed a stricture, compared to 4 (21%) of those who had not received PARM (adjusted odds ratio 2.60, 95% CI 0.71–9.46, p = 0.147). Conclusions This study provides a benchmark for current outcomes and complication rates following OA-TOF repair, with oesophageal stricture causing significant morbidity. The use of PARM appeared ineffective in preventing strictures. This study creates enough doubt about the efficacy of PARM in preventing stricture formation to warrant further investigation of its use with a randomised controlled trial. PMID:25153838

  2. [Congenital heart diseases in women].

    PubMed

    Putotto, Carolina; Unolt, Marta; Caiaro, Angela; Marino, Dario; Massaccesi, Valerio; Marino, Bruno; Digilio, Maria Cristina

    2013-02-01

    Are there gender differences in prevalence, surgical results and long-term survival of patients with congenital heart disease? Available literature data allow us to state what follows. At birth there is a mild but significant prevalence of congenital heart disease in females. The most severe congenital heart diseases are less frequent in girls, but when they are present in females, they are linked to a higher surgical mortality rate, due perhaps to lower weight at birth and to the prevalence of extracardiac malformations and/or of associated genetic syndromes. On the other hand, in adults, surgery for congenital heart disease is at higher risk in males, and so the long-term survival rate is higher in females. Particular psychological attitudes, a higher incidence of pulmonary hypertension, as well as specific problems linked to the reproductive function characterize congenital heart disease in adult women. The knowledge and analysis of these data are essential for a correct management of congenital heart disease in neonates, children and adults.

  3. Bronchial carcinoma in a Red Shouldered Hawk (Buteo lineatus)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Neoplasms of respiratory tract are rare in birds. This report describes carcinoma of the bronchial epithelium in a Red Shouldered Hawk (Buteo lineatus). Grossly, the caudal air sac and coelomic cavity contained approximately 15 ml of dark brown cloudy fluid that displaced the intestines cranially....

  4. Familial distal foregut atresia in a family with likely autosomal dominant inheritance pattern.

    PubMed

    Robinson, Ian; Gill, Harinder; Ng, Li Yen; Hayes, Roisin

    2012-11-01

    Familial occurrence of distal foregut atresia (DFA) (Type 1) is rare. Diagnosis is based upon the clinical symptomatology and confirmed by radiological studies, surgery and histology. A number of reports have described families in which several family members have been involved and suggested an autosomal recessive mode of inheritance. Little is known about the underlying genetic causes or indeed the likely pathogenic mechanism. We report a family in which there are five affected cases including three siblings where the DFA appears to be inherited in an autosomal dominant inheritance pattern with reduced penetrance.

  5. Primary intrathoracic gastric volvulus in the neonatal period: a differential diagnosis of esophageal atresia

    PubMed Central

    El Azzouzi, Driss

    2014-01-01

    Intrathoracic gastric volvulus in the neonatal period is a rare surgical emergency. Delays in diagnosis and treatment are life-threatening due to progressive deterioration of the gastric walls. Presentation in this period can be confused with the possibility of esophageal atresia or esophageal web. The upper gastrointestinal tract contrast study is diagnostic in this disease. The authors report a case of acute intrathoracic gastric volvulus diagnosis by radiologic-contrast-study in 1-day-old girl that was confirmed at surgery. The physiopathology, classification and different presentations of this entity are briefly reviewed. PMID:25309661

  6. Surgical repair of coronary sinus orifice atresia with persistent left superior vena cava in heterotaxia.

    PubMed

    Takabayashi, Shin; Shimpo, Hideto; Yokoyama, Kazuto

    2007-05-01

    A 6-month-old boy was diagnosed with coronary sinus orifice atresia, double-outlet right ventricle, complete atrioventricular septal defect, pulmonary stenosis, and moderate common atrioventricular valve regurgitation associated with heterotaxy syndrome. Cardiac venous flow drained through a persistent left superior vena cava. We decided to perform coronary sinus orifice unroofing through the right atrium under a guide using a bougie. The persistent left superior vena cava was divided. Bidirectional Glenn anastomosis and edge-to-edge common atrioventricular valve repair were concomitantly performed. After a 1-year follow-up period, the patient is alive and well without any ischemic event.

  7. Duodenal and jejunal atresia with agenesis of the dorsal mesentery: "apple peel" small bowel.

    PubMed

    Zivković, S M; Milosević, V R

    1979-05-01

    Two newborn infants with duodenal and jejunal atresia and agenesis of the dorsal mesentery represent our surgical experience with "apple peel" small bowel or "christmas tree" demormity. The first patient had the typical appearance of this condition. The postoperative course was complicated by hyperbilirubinemia, septicemia, and disseminated intravascular coagulation. The infant is in satisfactory condition 1.5 years after operation. The second patient had agenesis of the dorsal mesentery without spiraling of the bowel around its vascular stalk. The child died after 1 month, with complete absence of extrahepatic bile ducts as seen at a second laparotomy. Neither child had been subjected to gastrostomy.

  8. Primary human bronchial epithelial cells grown from explants.

    PubMed

    Yaghi, Asma; Zaman, Aisha; Dolovich, Myrna

    2010-01-01

    Human bronchial epithelial cells are needed for cell models of disease and to investigate the effect of excipients and pharmacologic agents on the function and structure of human epithelial cells. Here we describe in detail the method of growing bronchial epithelial cells from bronchial airway tissue that is harvested by the surgeon at the times of lung surgery (e.g. lung cancer or lung volume reduction surgery). With ethics approval and informed consent, the surgeon takes what is needed for pathology and provides us with a bronchial portion that is remote from the diseased areas. The tissue is then used as a source of explants that can be used for growing primary bronchial epithelial cells in culture. Bronchial segments about 0.5-1cm long and < or =1cm in diameter are rinsed with cold EBSS and excess parenchymal tissue is removed. Segments are cut open and minced into 2-3mm(3) pieces of tissue. The pieces are used as a source of primary cells. After coating 100mm culture plates for 1-2 hr with a combination of collagen (30 microg/ml), fibronectin (10 microg/ml), and BSA (10 microg/ml), the plates are scratched in 4-5 areas and tissue pieces are placed in the scratched areas, then culture medium (DMEM/Ham F-12 with additives) suitable for epithelial cell growth is added and plates are placed in an incubator at 37 degrees C in 5% CO(2) humidified air. The culture medium is changed every 3-4 days. The epithelial cells grow from the pieces forming about 1.5 cm diameter rings in 3-4 weeks. Explants can be re-used up to 6 times by moving them into new pre-coated plates. Cells are lifted using trypsin/EDTA, pooled, counted, and re-plated in T75 Cell Bind flasks to increase their numbers. T75 flasks seeded with 2-3 million cells grow to 80% confluence in 4 weeks. Expanded primary human epithelial cells can be cultured and allowed to differentiate on air-liquid interface. Methods described here provide an abundant source of human bronchial epithelial cells from freshly

  9. [Congenital lumbar hernia].

    PubMed

    Peláez Mata, D J; Alvarez Muñoz, V; Fernández Jiménez, I; García Crespo, J M; Teixidor de Otto, J L

    1998-07-01

    Hernias in the lumbar region are abdominal wall defects that appear in two possible locations: the superior lumbar triangle of Grynfelt-Lesshaft and the inferior lumbar triangle of Petit. There are 40 cases reported in the pediatric literature, and only 16 are considered congenital, associated with the lumbocostovertebral syndrome and/or meningomyelocele. A new case is presented. A premature newborn with a mass in the left flank that increases when the patient cries and reduces easily. The complementary studies confirm the diagnosis of lumbar hernia and reveal the presence of lumbocostovertebral syndrome associated. At the time of operation a well defined fascial defect at the superior lumbar triangle of Grynfelt-Lesshaft is primarily closed. The diagnosis of lumbar hernia is not difficult to establish but it is necessary the screening of the lumbocostovertebral syndrome. We recommend the surgical treatment before 12 months of age; the objective is to close the defect primarily or to use prosthetic material if necessary. PMID:12602034

  10. [Consanguinity and congenital abnormalities].

    PubMed

    Søgaard, Marie; Vedsted-Jakobsen, Agnete

    2003-04-28

    Knowledge of consanguinity is relevant for employees in the Danish national health service, since about 7.5% of the Danish population has another ethnic background than Danish and the majority comes from cultures where consanguineous marriages are not unusual. In the literature it is found that consanguineous couples have a higher risk of having children with congenital malformations. The risk is increased by a factor 2 to 2 1/2. The average risk in Denmark is about 3%. Primarily, the autosomal recessive diseases are expressed in children with consanguineous parents. In order to advise and diagnose it is essential to clarify the consanguinity state. In case of pregnancy with consanguineous parents, we recommend: 1) Counselling to estimate the risk of foetal illness and information about possible examination possibilities. 2) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan. 3) An ultrasound scan for malformations at the gestational age of 18-20 weeks. 4) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.

  11. Congenital mirror movements

    PubMed Central

    Méneret, Aurélie; Depienne, Christel; Riant, Florence; Trouillard, Oriane; Bouteiller, Delphine; Cincotta, Massimo; Bitoun, Pierre; Wickert, Julia; Lagroua, Isabelle; Westenberger, Ana; Borgheresi, Alessandra; Doummar, Diane; Romano, Marcello; Rossi, Simone; Defebvre, Luc; De Meirleir, Linda; Espay, Alberto J.; Fiori, Simona; Klebe, Stephan; Quélin, Chloé; Rudnik-Schöneborn, Sabine; Plessis, Ghislaine; Dale, Russell C.; Sklower Brooks, Susan; Dziezyc, Karolina; Pollak, Pierre; Golmard, Jean-Louis; Vidailhet, Marie; Brice, Alexis

    2014-01-01

    Objective: We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51. Methods: We studied 6 familial and 20 simplex CMM cases. Each patient had a standardized neurologic assessment. Analysis of DCC and RAD51 coding regions included Sanger sequencing and a quantitative method allowing detection of micro rearrangements. We then compared the frequency of rare variants predicted to be pathogenic by either the PolyPhen-2 or the SIFT algorithm in our population and in the 4,300 controls of European origin on the Exome Variant Server. Results: We found 3 novel truncating mutations of DCC that segregate with CMM in 4 of the 6 families. Among the 20 simplex cases, we found one exonic deletion of DCC, one DCC mutation leading to a frameshift, 5 missense variants in DCC, and 2 missense variants in RAD51. All 7 missense variants were predicted to be pathogenic by one or both algorithms. Statistical analysis showed that the frequency of variants predicted to be deleterious was significantly different between patients and controls (p < 0.001 for both RAD51 and DCC). Conclusion: Mutations and variants in DCC and RAD51 are strongly associated with CMM, but additional genes causing CMM remain to be discovered. PMID:24808016

  12. [Congenital foot abnormalities].

    PubMed

    Delpont, M; Lafosse, T; Bachy, M; Mary, P; Alves, A; Vialle, R

    2015-03-01

    The foot may be the site of birth defects. These abnormalities are sometimes suspected prenatally. Final diagnosis depends on clinical examination at birth. These deformations can be simple malpositions: metatarsus adductus, talipes calcaneovalgus and pes supinatus. The prognosis is excellent spontaneously or with a simple orthopedic treatment. Surgery remains outstanding. The use of a pediatric orthopedist will be considered if malposition does not relax after several weeks. Malformations (clubfoot, vertical talus and skew foot) require specialized care early. Clubfoot is characterized by an equine and varus hindfoot, an adducted and supine forefoot, not reducible. Vertical talus combines equine hindfoot and dorsiflexion of the forefoot, which is performed in the midfoot instead of the ankle. Skew foot is suspected when a metatarsus adductus is resistant to conservative treatment. Early treatment is primarily orthopedic at birth. Surgical treatment begins to be considered after walking age. Keep in mind that an abnormality of the foot may be associated with other conditions: malposition with congenital hip, malformations with syndromes, neurological and genetic abnormalities. PMID:25524290

  13. Management of digestive lesions associated to congenital epidermolysis bullosa

    PubMed Central

    Chahed, Jamila; Mekki, Mongi; Ksia, Amine; Kechiche, Nehla; Hidouri, Saida; Youssef, Trimech Monia; Sahnoun, Lassaad; Krichene, Imed; Belghith, Mohsen; Nouri, Abdellatif

    2015-01-01

    Background: Congenital epidermolysis bullosa (CEB) is a rare genodermatosis. The digestive system is very frequently associated with skin manifestations. Pyloric atresia (PA) and oesophageal stenosis (OS) are considered the most serious digestive lesions to occur. The aim of this work is to study the management and the outcome of digestive lesions associated to CEB in four children and to compare our results to the literature. Patients and Methods: A retrospective study of four observations: Two cases of PA and two cases of OS associated to CEB managed in the Paediatric Surgery Department of Fattouma Bourguiba Teaching Hospital in Monastir, Tunisia. Results: Four patients, two of them are 11 and 8 years old, diagnosed as having a dystrophic epidermolysis bullosa since the neonatal period. They were admitted for the investigation of progressive dysphagia. Oesophageal stenosis was confirmed by an upper contrast study. Pneumatic dilation was the advocated therapeutic method for both patients with afavourable outcome. The two other patients are newborns, diagnosed to have a CEB because of association of PA with bullous skin lesions with erosive scars. Both patients had a complete diaphragm excision with pyloroplasty. They died at the age of 4 and 3 months of severe diarrhoea resistant to medical treatment. Conclusion: Digestive lesions associated to CEB represent an aggravating factor of a serious disease. OS complicating CEB is severe with difficult management. Pneumatic dilatation is the gold standard treatment method. However, the mortality rate in PA with CEB is high. Prenatal diagnosis of PA is possible, and it can help avoiding lethal forms. PMID:26712284

  14. Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: a new syndrome?

    PubMed

    Isidor, Bertrand; Le Meur, Guylène; Conti, Carole; Caldagues, Emmanuelle; Lainey, Elodie; Launay, Elise; Leclair, Marc David; Le Francois, Thomas; Pichon, Olivier; Boisseau, Pierre; Migraine, Audrey; Keren, Boris; Le Caignec, Cédric; Crow, Yanick J; David, Albert

    2013-08-01

    The association of Coats disease with intrauterine growth retardation, intracranial calcification, leukodystrophy, brain cysts, osteopenia, and gastrointestinal bleeding defines Coats plus syndrome caused by mutations in the CTC1 gene, encoding conserved telomere maintenance component 1. Here, we report on a child with exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly, and short stature, in whom no mutations in CTC1 were found. Our patient shares some features seen in other diseases associated with telomere shortening including Hoyeraal-Hreidarsson and Revesz syndromes. We therefore measured telomere length by Flow-Fish which was normal. The association of duodenal atresia and microcephaly also suggested a diagnosis of Feingold syndrome. However, direct sequencing of MYCN was normal, and we did not detect any hemizygous deletion of the miR-17∼92 polycistronic miRNA cluster. To our knowledge, the phenotype we report on has not been described previously, leading us to speculate that this condition may represent a new syndrome.

  15. Thoracoscopic Esophageal Atresia with Tracheoesophageal Fistula Repair: The First Iranian Group Report, Passing the Learning Curve

    PubMed Central

    Hiradfar, Mehran; Gharavifard, Mohammad; Shojaeian, Reza; Joodi, Marjan; Nazarzadeh, Reza; Sabzevari, Alireza; Yal, Nazila; Eslami, Reza; Mohammadipour, Ahmad; Azadmand, Ali

    2016-01-01

    Background: Thoracoscopic treatment of esophageal atresia and tracheoesophageal fistula (EA+TEF) is accepted as a superior technique at least in cosmetic point of view but it is considered as an advance endoscopic procedure that needs a learning curve to be performed perfectly. This is the first report of Iranian group pediatric surgeons in thoracoscopic approach to EA. Methods and Materials: Since 2010, twenty four cases with EA+TEF underwent thoracoscopic approach in Sarvar Children Hospital (Mashhad -Iran). During the first 6 months, thoracoscopic approach to 6 cases of EA+TEF was converted to open procedure because of technical and instrumental problems. The first case of successful thoracoscopic EA repair was accomplished in 2010 and since then, 10 cases of EA+ TEF among 18 patients were treated successfully with thoracoscopic approach Results: Overall conversion rate was 58.3% but conversion rate after the primary learning curve period, was 35.7%. The main conversion causes include difficulties in esophageal anastomosis, limited exposure and deteriorating the patient's condition. Anastomotic leak and stenosis were observed in 20% and 40% respectively. Overall mortality rate was 4.2%. Conclusion: Thoracoscopic repair of esophageal atresia seems feasible and safe with considerable superiorities to the conventional method although acceptable results needs a prolonged learning curve and advanced endoscopic surgical skill. Clear judgment about the best surgical intervention for EA according to all cosmetic and functional outcomes needs further studies. PMID:27471677

  16. Congenital Scoliosis (Mini-review).

    PubMed

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered. PMID:26769614

  17. Congenital Scoliosis (Mini-review).

    PubMed

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.

  18. Estrogen receptor alpha overexpressing mouse antral follicles are sensitive to atresia induced by methoxychlor and its metabolites.

    PubMed

    Paulose, Tessie; Hannon, Patrick R; Peretz, Jackye; Craig, Zelieann R; Flaws, Jodi A

    2012-06-01

    Methoxychlor (MXC) and its metabolites bind to estrogen receptors (ESRs) and increase ovarian atresia. To test whether ESR alpha (ESR1) overexpressing (ESR1 OE) antral follicles are more sensitive to atresia compared to controls, we cultured antral follicles with vehicle, MXC (1-100 μg/ml) or metabolites (0.1-10 μg/ml). Results indicate that MXC and its metabolites significantly increase atresia in ESR1 OE antral follicles at lower doses compared to controls. Activity of pro-apoptotic factor caspase-3/7 was significantly higher in ESR1 OE treated antral follicles compared to controls. ESR1 OE mice dosed with MXC 64 mg/kg/day had an increased percentage of atretic antral follicles compared to controls. Furthermore, pro-caspase-3 levels were found to be significantly lower in ESR1 OE ovaries than controls dosed with MXC 64 mg/kg/day. These data suggest that ESR1 OE ovaries are more sensitive to atresia induced by MXC and its metabolites in vitro and in vivo compared to controls.

  19. Natural Killer Cells Promote Long-Term Hepatobiliary Inflammation in a Low-Dose Rotavirus Model of Experimental Biliary Atresia

    PubMed Central

    Squires, James E.; Shivakumar, Pranavkumar; Mourya, Reena; Bessho, Kazuhiko; Walters, Stephanie; Bezerra, Jorge A.

    2015-01-01

    Biliary atresia is a rapidly progressive obstructive cholangiopathy of infants. Mechanistic studies in the mouse model of Rhesus rotavirus (RRV)-induced biliary atresia have linked the importance of effector lymphocytes to the pathogenesis of extrahepatic bile duct (EHBD) injury and obstruction in experimental biliary atresia; however, studies of the progressive liver injury have been limited by early death of newborn mice. Here, we aimed to determine 1) if a lower inoculum of RRV induces obstruction of EHBDs while allowing for ongoing liver inflammation, and 2) if NK cells regulate intrahepatic injury. The administration of 0.25x106 fluorescence forming units of RRV induced an obstructive extrahepatic cholangiopathy, but allowed for restoration of the duct epithelium, increased survival, and the development of a progressive intrahepatic inflammatory injury with molecular and cellular signatures equivalent to the traditional infectious model. Investigating the mechanisms of liver injury, we found that NK cell depletion at the onset of jaundice decreased liver inflammation, suppressed the expression of fibrosis and inflammation/immunity genes, lowered plasma ALT and bilirubin and improved survival. Conclusions Lower inoculation of RRV-induced progressive liver injury and fibrosis via NK cells. These findings point to the potential use of NK cell-depleting strategies to block progression of liver disease in biliary atresia. PMID:25992581

  20. Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome?

    PubMed

    Antich, J; Iriondo, M; Lizarraga, I; Manzanares, R; Cusi, V

    1993-01-01

    We report a newborn with radiohumeral synostosis, femoral bowing, anal atresia, a prominent nose (pear shaped nose), slender ribs, long tapering fingers with distal camptodactyly, genital hypoplasia and a neonatal humeral fracture. Among the possible differential diagnoses a variant example of Antley-Bixler syndrome is considered to be the most likely final diagnosis.

  1. Treatment of congenital malformations.

    PubMed

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively.

  2. Genetics Home Reference: congenital dyserythropoietic anemia

    MedlinePlus

    ... Understand Genetics Home Health Conditions CDA congenital dyserythropoietic anemia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  3. Care and Treatment for Congenital Heart Defects

    MedlinePlus

    ... Physical Activity Recommendations for Heart Health • Tools & Resources Web Booklets on Congenital Heart Defects These online publications ... to you or your child’s defect and concerns. Web Booklet: Adults With Congenital Heart Defects Web Booklet: ...

  4. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Genetic Counseling for Congenital Heart Defects Updated:Oct 26, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  5. Magnetic resonance imaging of congenital heart disease

    SciTech Connect

    Fletcher, B.D.; Jacobstein, M.D.

    1988-01-01

    Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity.

  6. Congenital Anomalies of the Limbs

    PubMed Central

    Gingras, G.; Mongeau, M.; Moreault, P.; Dupuis, M.; Hebert, B.; Corriveau, C.

    1964-01-01

    As a preparatory step towards the development of a complete habilitation program for children with congenital limb anomalies associated with maternal ingestion of thalidomide, the medical records of all patients with congenital limb anomalies referred to the Rehabilitation Institute of Montreal in the past decade were studied, and an examination and a thorough reassessment were made of 41 patients (21 males and 20 females). In this paper, Part I, the medical and prosthetic aspects are dealt with and a form of management is described for each type of anomaly. The conclusions are reached that prosthetic fitting and training should be initiated very early in life and that co-operation of the parent is essential to successful habilitation of a child with congenital limb anomalies. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7 PMID:14154297

  7. Congenital Sialolipoma in an Infant.

    PubMed

    Mazlumoglu, Muhammed Recai; Altas, Enver; Oner, Fatih; Ucuncu, Harun; Calik, Muhammed

    2015-11-01

    Sialolipoma is a newly recognized tumor of the major and minor salivary glands and represents only 0.3% of all salivary gland tumors. Only 3 cases of congenital sialolipoma are available in the literature. In the current case, we performed a total parotidectomy with facial nerve preservation on a 12-week-old infant exhibiting huge mass in the parotid region. Histopathology results showed sialolipoma. There was no recurrence at the 18-month follow-up. Although it is a very rare disease in infants, congenital sialolipoma should be kept in mind in patients with parotid mass. The primary treatment is parotidectomy with facial nerve preservation. PMID:26594977

  8. [Experience with ciclesonide in patients with mild persistent bronchial asthma].

    PubMed

    Bartosíková, L; Necas, J; Frána, L; Bartosík, T

    2007-12-01

    Experience with ciclesonide in patients with mild persistent bronchial asthma The study aimed to monitor the effectiveness and safety of the treatment with ciclesonide, administered once a day in a 160 microg dose, over a 3-month period, to a group of 100 patients diagnosed with mild persistent bronchial asthma with deterioration of problems after exercise. The results of the study prove significant positive effects of the preparation used. A significant improvement of FEV1 and PEF values was observed, as well as a statistically significant remission of both day and nocturnal symptoms of the disease, a significantly lower consumption of short-acting beta2-sympathomimetics, and an improvement of all evaluated data relating to the quality of life of the asthmatic patients. No adverse effects were registered. PMID:18257418

  9. Bilateral renal dysplasia, nephroblastomatosis, and bronchial stenosis. A new syndrome?

    PubMed

    Rodriguez, Maria Matilde; Correa-Medina, Mayrin; Whittington, Elizabeth E

    2015-06-01

    Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or Beckwith-Wiedemann syndrome and others do not demonstrate syndromic features. We report a full-term boy with anteverted nose, bilateral bronchial stenosis due to lack of cartilage, bilateral obstructive renal dysplasia and NB with glomeruloid features. The infant had visceromegaly, but neither gigantism nor hemihypertrophy. Immunohistochemistry for PAX2 (Paired box gene-2) and WT-1 (Wilms Tumor 1) were strongly positive in the areas of NB. GLEPP-1 (Glomerular Epithelial Protein) did not stain the areas of NB with a glomeruloid appearance, but was positive in the renal glomeruli as expected. We found neither associated bronchial stenosis nor the histology of NB resembling giant glomeruli in any of the reported cases of NB. PMID:25871299

  10. [Nedocromil in treating chronic bronchial asthma of a moderate course].

    PubMed

    Rogala, B; Jarzab, J; Rogala, E; Nowakowski, M

    Randomized, double blind, placebo controlled clinical studies aimed at evaluating the efficiency of nedocromil sodium (Tilade) in the form of metered dosimeter aerosol. Studies involved patients with moderate chronic bronchial asthma controlled with beta 2-agonists and theophylline in the form of sustained release preparations. Forty patients completed the studies. All patients were examined clinically (staging of the symptoms and doses of drugs) and spirometrically prior to and after 4 and 8 weeks of the treatment with nedocromil sodium. Statistically significant clinical improvement and spirometric improvement as well in patients treated with nedocromil sodium were noted. It may be concluded that nedocromil sodium is effective and well tolerated adjuvant therapy in the bronchial asthma.

  11. [Congenital lumbar hernia and bilateral renal agenesis].

    PubMed

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia. PMID:17650728

  12. [Congenital lumbar hernia and bilateral renal agenesis].

    PubMed

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia.

  13. Techniques of protection and revascularization of the bronchial anastomosis

    PubMed Central

    Diso, Daniele; Anile, Marco; Rendina, Erino A.

    2016-01-01

    Airway anastomosis has been traditionally considered at risk for the onset of complications, particularly dehiscence with consequent infection and erosion in the adjacent vessels. Although the modifications and improvements of the surgical technique has contributed to reduce the incidence of complications, the protection and revascularization of the anastomotic site is still considered mandatory at many centers Many techniques have been proposed for encircling the bronchial anastomosis. PMID:26981269

  14. BRONCHIAL ASTHMA IN ADULTS—Causes and Treatment

    PubMed Central

    Rowe, Albert H.; Rowe, Albert

    1950-01-01

    Food and inhalant allergens were of about equal importance in producing bronchial asthma in 907 adults between the ages of 15 and 55 years. Drug and especially bacterial allergens were infrequent causes. Psychogenic factors may activate or exaggerate causes mentioned but were not the sole cause of any case in this series. Food allergens are best studied and controlled by the standardized cereal-free elimination diet and at times other elimination diets. Test-negative diets usually fail because of the fallibility of both negative and positive skin tests. Inhalant allergy is controlled by the elimination of causative allergens by varying degrees of environmental control and often by pollen and dust filters in the window. Desensitization is necessary against those allergens that cannot be removed from the environment. Dilutions in the millions and billions may be required. Morphine and other opiates, Demerol, chloral, paraldehyde and large or moderate doses of barbiturates are contraindicated in bronchial asthma, as emphasized by deaths resulting from the use of them. Bronchoscopy is indicated for bronchial obstruction due to inspissated mucous plugs, but the danger of the procedure, especially with much sedation, must be recognized. When secondary infection is probable, the use of sulfadiazine, penicillin, aureomycin and chloramphenicol must be considered. PMID:18731687

  15. Transcriptome profiling of granulosa cells from bovine ovarian follicles during atresia

    PubMed Central

    2014-01-01

    Background The major function of the ovary is to produce oocytes for fertilisation. Oocytes mature in follicles surrounded by nurturing granulosa cells and all are enclosed by a basal lamina. During growth, granulosa cells replicate and a large fluid-filled cavity (the antrum) develops in the centre. Only follicles that have enlarged to over 10 mm can ovulate in cows. In mammals, the number of primordial follicles far exceeds the numbers that ever ovulate and atresia or regression of follicles is a mechanism to regulate the number of oocytes ovulated and to contribute to the timing of ovulation. To better understand the molecular basis of follicular atresia, we undertook transcriptome profiling of granulosa cells from healthy (n = 10) and atretic (n = 5) bovine follicles at early antral stages (< 5 mm). Results Principal Component Analysis (PCA) and hierarchical classification of the signal intensity plots for the arrays showed primary clustering into two groups, healthy and atretic. These analyses and size-frequency plots of coefficients of variation of signal intensities revealed that the healthy follicles were more heterogeneous. Examining the differentially-expressed genes the most significantly affected functions in atretic follicles were cell death, organ development, tissue development and embryonic development. The overall processes influenced by transcription factor gene TP53 were predicted to be activated, whereas those of MYC were inhibited on the basis of known interactions with the genes in our dataset. The top ranked canonical pathway contained signalling molecules common to various inflammatory/fibrotic pathways such as the transforming growth factor-β and tumour necrosis factor-α pathways. The two most significant networks also reflect this pattern of tissue remodelling/fibrosis gene expression. These networks also contain molecules which are present in the canonical pathways of hepatic fibrosis/hepatic stellate cell activation and transforming

  16. Sphingosine-1-phosphate and ceramide are associated with health and atresia of bovine ovarian antral follicles.

    PubMed

    Hernández-Coronado, C G; Guzmán, A; Espinosa-Cervantes, R; Romano, M C; Verde-Calvo, J R; Rosales-Torres, A M

    2015-02-01

    The follicle destiny towards ovulation or atresia is multi-factorial in nature and involves outcries, paracrine and endocrine factors that promote cell proliferation and survival (development) or unchain apoptosis as part of the atresia process. In several types of cells, sphingosine-1-phospate (S1P) promotes cellular proliferation and survival, whereas ceramide (CER) triggers cell death, and the S1P/CER ratio may determine the fate of the cell. The aim of present study was to quantify S1P and CER concentrations and their ratio in bovine antral follicles of 8 to 17 mm classified as healthy and atretic antral follicles. Follicles were dissected from cow ovaries collected from a local abattoir. The theca cell layer, the granulosa cells and follicular fluid were separated, and 17β-estradiol (E2) and progesterone (P4) concentrations were measured in the follicular fluid by radioimmunoassay. Based on the E2/P4 ratio, the follicles were classified as healthy (2.2±0.3) or atretic (0.2±0.3). In both follicular compartments (granulosa and theca cell layer), sphingolipids were extracted and S1P and CER concentrations were quantified by HPLC (XTerra RP18; 5 µm, 3.0×150 mm column). Results showed that in both follicular compartments, S1P concentrations were higher in healthy antral follicles than in atretic antral follicles (P<0.05). The concentration of CER in the granulosa cells was higher in atretic antral follicles than in healthy antral follicles, but no differences were observed in the theca cell layer. The S1P/CER ratio in both follicular compartments was also higher in healthy antral follicles. Interestingly, in these follicles, there was a 45-fold greater concentration of S1P than CER in the granulosa cells (P<0.05), whereas in the theca cell layer, S1P had only a 14-fold greater concentration than CER when compared with atretic antral follicles. These results suggest that S1P plays a role in follicle health, increasing cellular proliferation and survival. In

  17. Outcome of Jejuno-Ileal Atresia Associated with Intraoperative Finding of Volvulus of Small Bowel

    PubMed Central

    Sinha, Shalini; Sarin, Yogesh Kumar

    2012-01-01

    Aim: To compare the outcome of patients with jeuno-ileal atresia (JIA) associated with the intraoperative finding of volvulus of small bowel (group A) with that of JIA without volvulus (group B). Materials and Methods: It is a retrospective observational study conducted at one of the two units of Pediatric Surgery, in a tertiary care public hospital of India, from January 2001 to December 2010. Hospital records were retrieved and analyzed. During this time period, 65 patients with JIA were operated of which 40 (61.5%) had ileal atresia (IA) and 25 (38.5%) had jejunal atresia (JA). Eleven (16.9%) patients had associated intraoperative finding of volvulus of small bowel (Group A) and were studied and compared with group B- not associated with intraoperative findings of volvulus of small bowel (n=54). The demography, clinical features, operative findings, associated anomalies, anastomotic leakage, and outcome were compared. Results: Group A comprising of 6 boys and 5 girls, had 8 IA and 3 JA; one case each of Type 3b and Type 4 JIA was seen. Associated anomalies included meconium ileus (n=2), Down’s syndrome (n=1) and malrotation (n=1). Anastomotic leak rate was 75% for IA and 66.7% for JA. The mortality was 91% in Group A, 100% for IA and 67% for JA. Group B comprising of 37 boys and 17 girls, had 32 IA and 22 JA; 2 cases of Type 4 and 1 case of Type 3b JIA was seen. Associated anomalies were malrotation (n=2), meconium ileus (n=1), exomphalos (n=1), gastroschisis (n=1) and ileal duplication cyst (n=1). The anastomotic leak rate for JA was 8/21 (38.1%) and IA was 3/28 (10.7%); persistent obstruction was seen in 3/21(14.3%) JA and 1/28 (3.6%) IA patients. In group B, overall mortality rate was 8/22 (36.4%) for JA and 9/32 (28%) for IA. The morbidity and mortality was significantly higher in group A when compared to group B. Conclusions: JIA associated with volvulus (without malrotation) is a sinister entity with a dismal outcome in our experience. PMID:26023396

  18. Sphingosine-1-phosphate and ceramide are associated with health and atresia of bovine ovarian antral follicles.

    PubMed

    Hernández-Coronado, C G; Guzmán, A; Espinosa-Cervantes, R; Romano, M C; Verde-Calvo, J R; Rosales-Torres, A M

    2015-02-01

    The follicle destiny towards ovulation or atresia is multi-factorial in nature and involves outcries, paracrine and endocrine factors that promote cell proliferation and survival (development) or unchain apoptosis as part of the atresia process. In several types of cells, sphingosine-1-phospate (S1P) promotes cellular proliferation and survival, whereas ceramide (CER) triggers cell death, and the S1P/CER ratio may determine the fate of the cell. The aim of present study was to quantify S1P and CER concentrations and their ratio in bovine antral follicles of 8 to 17 mm classified as healthy and atretic antral follicles. Follicles were dissected from cow ovaries collected from a local abattoir. The theca cell layer, the granulosa cells and follicular fluid were separated, and 17β-estradiol (E2) and progesterone (P4) concentrations were measured in the follicular fluid by radioimmunoassay. Based on the E2/P4 ratio, the follicles were classified as healthy (2.2±0.3) or atretic (0.2±0.3). In both follicular compartments (granulosa and theca cell layer), sphingolipids were extracted and S1P and CER concentrations were quantified by HPLC (XTerra RP18; 5 µm, 3.0×150 mm column). Results showed that in both follicular compartments, S1P concentrations were higher in healthy antral follicles than in atretic antral follicles (P<0.05). The concentration of CER in the granulosa cells was higher in atretic antral follicles than in healthy antral follicles, but no differences were observed in the theca cell layer. The S1P/CER ratio in both follicular compartments was also higher in healthy antral follicles. Interestingly, in these follicles, there was a 45-fold greater concentration of S1P than CER in the granulosa cells (P<0.05), whereas in the theca cell layer, S1P had only a 14-fold greater concentration than CER when compared with atretic antral follicles. These results suggest that S1P plays a role in follicle health, increasing cellular proliferation and survival. In

  19. Using the capnograph to confirm lung isolation when using a bronchial blocker.

    PubMed

    Fisicaro, Marc D; Maguire, David P; Armstead, Valerie E

    2010-11-01

    The endotracheal tube and bronchial blocker combination is an accepted lung isolation technique used during thoracic surgery. A reliable and inexpensive method of confirming lung isolation that uses capnographic monitoring of the bronchial blocker central lumen is presented. As the bronchial blocker balloon is inflated, lung isolation is confirmed when the normal respiratory variation of carbon dioxide (CO(2)) is replaced by a persistent plateau CO(2) waveform. PMID:21056815

  20. First successful repair of an aortico-to-right ventricular tunnel (ARVT) in d-transposition of the great arteries with aortic valve atresia and ventricular septal defect.

    PubMed

    Wagner, Robert; Vollroth, Marcel; Daehnert, Ingo; Kostelka, Martin

    2015-04-01

    The presented case reports on the first successful complex biventricular repair in a neonate with an aortico-to-right ventricular tunnel and dextrotransposition of the great arteries complicated by aortic atresia.

  1. Congenital Chagas disease: an update

    PubMed Central

    Carlier, Yves; Sosa-Estani, Sergio; Luquetti, Alejandro O; Buekens, Pierre

    2015-01-01

    Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi. PMID:25760448

  2. Alberta Congenital Anomalies Surveillance System.

    PubMed Central

    Lowry, R B; Thunem, N Y; Anderson-Redick, S

    1989-01-01

    The Alberta Congenital Anomalies Surveillance System was started in 1966 in response to the thalidomide tragedy earlier in the decade. It was one of four provincial surveillance systems on which the federal government relied for baseline statistics of congenital anomalies. The government now collects data from six provinces and one territory. The Alberta Congenital Anomaly Surveillance System originally depended on three types of notification to the Division of Vital Statistics, Department of Health, Government of Alberta: birth notice and certificates of death and stillbirth; increased sources of ascertainment have greatly improved data quality. We present the data for 1980-86 and compare the prevalence rates of selected anomalies with the rates from three other surveillance systems. Surveillance systems do not guarantee that a new teratogen will be detected, but they are extremely valuable for testing hypotheses regarding causation. At the very least they provide baseline data with which to compare any deviation or trend. For many, if not most, congenital anomalies total prevention is not possible; however, surveillance systems can be used to measure progress in prevention. PMID:2819634

  3. Dermatoglyphic's in Congenital Cardiac Disease.

    PubMed

    Brijendra, Singh; Renu, Gupta; Dushyant, Agrawal; Rajneesh, Garg; Sunil, Katri

    2016-02-01

    Various dermatoglyphic parameters like finger print pattern, atd angle, absolute ridge count & ab, bc ,cd, and ad ridge counts were observed in 150 cases of congenital cardiac disease, comprising of 72 cases of Ventricular Septal Defects (VSD), 60 cases of Atrial Septal Defects (ASD), 9 cases of Coarctation of Aorta (COA) & 9 cases of Tetralogy of Fallot's (TOF). Same dermatoglyphic parameters were also studied in 300 controls and statistical comparison of cases and controls was done. In our study it was observed that the congenital cardiac disease cases exhibited preponderance of whorls (55.8%) with decrease in loop pattern (36.2%) as compared to those of controls and the difference was highly significant (P<0.001). The difference in the mean total finger ridge count (TFRC) of the controls and of the cases of Congenital Cardiac Diseases (CCD) was found to be highly significant (P<0.001), while the  mean atd angle in the cases of Congenital Cardiac Disease (CCD) was widen up and was statistically significant too. The mean ab, the mean bc ridge, the mean cd ridge and the mean ad ridge counts were also higher in the various type of CCD as compared to that controls and on statistical comparison, the difference was found to be highly significant.

  4. Angiocardiography in congenital heart malformations

    SciTech Connect

    Soto, B.; Pacifico, A.D.

    1990-01-01

    The contents of this book are well organized, it deals with the technique of angiocardiography, and describes the angiocardiographic anatomy of the normal heart and offers an excellent sequential analysis of cardiac morphology. The rest of the book describes the angiocardiographic findings observed in individual congenital cardiac disorders.

  5. Increased wheeze but not bronchial hyperreactivity near power stations.

    PubMed Central

    Halliday, J A; Henry, R L; Hankin, R G; Hensley, M J

    1993-01-01

    STUDY OBJECTIVE--In a previous study a higher than expected prevalence of asthma was found in Lake Munmorah, a coastal town near two power stations, compared with another coastal control town. This study aimed to compare atopy, bronchial hyperreactivity, and reported symptoms of asthma in the power station town and a second control area with greater socioeconomic similarity. DESIGN--A cross sectional survey was undertaken. SETTINGS--Lake Munmorah, a coastal town near two power stations, and Dungog, a country town in the Hunter Valley, NSW, Australia. PARTICIPANTS--All children attending kindergarten to year 6 at all schools in the two towns were invited to participate in 1990. The response rates for the questionnaire for reported symptoms and associated demographic data were 92% in Lake Munmorah and 93% in Dungog, with 84% and 90% of children respectively being measured for lung function, atopy, and bronchial reactivity. There were 419 boys and 432 girls aged 5 to 12 years. MEASUREMENTS AND MAIN RESULTS--Main outcome measures were current wheeze and bronchial hyper-reactivity, defined as a fall in forced expiratory volume in 1 second (FEV1) or peak expiratory flow (PEF) of 20% or more. Current wheeze was reported in 24.8% of the Lake Munmorah children compared with 14.6% of the Dungog children. Bronchial hyper-reactivity was similar for both groups--25.2% in Lake Munmorah and 22.3% in Dungog. The mean baseline FEV1 was lower in Lake Munmorah than in Dungog (p < 0.001). Dungog children were more likely to have positive skin test to house dust mite (Dungog 27.0%, Lake Munmorah 20.2%, p = 0.028) but there were no other differences in skin test atopy in the two towns. After adjusting for age, gender, any smoker in the house, and positive dust mite skin test, the odds of current wheeze in Lake Munmorah compared with Dungog was 2.16 (95% confidence interval 1.45, 3.15). CONCLUSIONS--Baseline lung function was lower and reported symptoms of asthma were higher in the power

  6. Rapidly involuting congenital hemangioma with fetal involution.

    PubMed

    Maguiness, Sheilagh; Uihlein, Lily Changchien; Liang, Marilyn G; Kozakewich, Harry; Mulliken, John B

    2015-01-01

    Uncommon congenital hemangiomas differ from common infantile hemangiomas in their appearance, postnatal behavior, histopathology, and immunohistologic staining. Two types are well described in the literature: noninvoluting congenital hemangioma (NICH) and rapidly involuting congenital hemangioma (RICH). We report a series of infants with another presentation of congenital hemangioma that arises prenatally and is nearly regressed at birth. This was a retrospective case series. We describe six infants with unusual congenital vascular tumors. Each lesion presented at birth as a violaceous, atrophic plaque with a surrounding pale halo. The lesions involuted in infancy, fading in color and becoming atrophic, with prominent central veins, similar to RICH in the final stage of regression. The distinctive morphology and behavior suggests that these tumors undergo a life cycle of proliferation and involution during fetal life. We describe a new variant of congenital hemangioma that we refer to as rapidly involuting congenital hemangioma with fetal involution.

  7. Congenital anomalies in the baboon (Papio spp.)

    PubMed Central

    Fox, Benjamin; Owston, Michael A.; Kumar, Shyamesh; Dick, Edward J.

    2011-01-01

    Background A comprehensive survey of the prevalence of congenital anomalies in baboons has not been previously reported. We report the congenital anomalies observed over a 26-year period in a large captive baboon colony. Methods A computer search was performed for all baboon congenital anomalies identified at necropsy and recorded on necropsy submissions. Results We identified 198 congenital anomalies in 166 baboons from 9,972 necropsies (1.66% of total necropsies). The nervous, urogenital, musculoskeletal, and cardiovascular systems were most commonly affected. The most common organs affected were the brain, bone, heart, testicle, kidney, penis, aorta, and skeletal muscle. The most frequent congenital anomalies were blindness, seizures, and hydrocephalus. Conclusions The baboon has an overall frequency of congenital anomalies similar to humans and other nonhuman primates. Although the most frequently affected systems are similar, congenital anomalies involving the digestive system appear to be less common in the baboon. PMID:21332757

  8. Methoxychlor induces atresia of antral follicles in ERalpha-overexpressing mice.

    PubMed

    Tomic, Dragana; Frech, Maria Silvina; Babus, Janice K; Gupta, Rupesh K; Furth, Priscilla A; Koos, Robert D; Flaws, Jodi A

    2006-09-01

    Methoxychlor (MXC) is a pesticide that is known to bind to estrogen receptor alpha (ERalpha) and to induce atresia of antral ovarian follicles. Although studies have shown that MXC is toxic to the ovary, we hypothesize that perturbation to the estrogen-signaling system (i.e., increase or decrease in estrogen sensitivity) might alter ovarian responsiveness to MXC. Thus, we examined whether ERalpha overexpression alters the ability of MXC to increase follicle atresia. To do so, we employed a transgenic mouse model in which ERalpha can be inducibly overexpressed in animal tissues (ERalpha overexpressors). We dosed female controls and ERalpha overexpressors with sesame oil (vehicle control) or MXC (32 and 64 mg/kg/day) for 20 days. After dosing, the ovaries were collected for histological evaluation of follicle numbers and follicle atresia, while blood was collected for measurements of hormones. Estrous cycles were determined in all animals to ensure that all were terminated during estrus. Although there were no significant effects of MXC on the numbers of primordial, primary, and preantral follicles in both controls and ERalpha overexpressors, there was an effect on antral follicles. Specifically, our data indicate that 32 and 64 mg/kg MXC increased the percentage of atretic follicles compared to vehicle in both control and ERalpha overexpressor groups. Moreover, there was a clear trend toward greater sensitivity to 64 mg/kg MXC in ERalpha-overexpressing mice compared to control animals. Specifically, at the 64-mg/kg MXC dose, ERalpha-overexpressing mice had a significantly higher percentage of atretic follicles compared to control animals (controls = 21.5 +/- 3%, n = 5; ERalpha overexpressors = 37 +/- 23%, n = 9, p < or = 0.05 vs. controls). After 20 days of dosing, there were no differences in estradiol levels between controls and ERalpha-overexpressing mice in all treatment groups. Follicle-stimulating hormone (FSH) levels were similar in sesame oil-treated control

  9. Use of Corticosteroids After Hepatoportoenterostomy for Bile Drainage in Infants With Biliary Atresia

    PubMed Central

    Bezerra, Jorge A.; Spino, Cathie; Magee, John C.; Shneider, Benjamin L.; Rosenthal, Philip; Wang, Kasper S.; Erlichman, Jessi; Haber, Barbara; Hertel, Paula M.; Karpen, Saul J.; Kerkar, Nanda; Loomes, Kathleen M.; Molleston, Jean P.; Murray, Karen F.; Romero, Rene; Schwarz, Kathleen B.; Shepherd, Ross; Suchy, Frederick J.; Turmelle, Yumirle P.; Whitington, Peter F.; Moore, Jeffrey; Sherker, Averell H.; Robuck, Patricia R.; Sokol, Ronald J.

    2015-01-01

    IMPORTANCE Biliary atresia is the most common cause of end-stage liver disease in children. Controversy exists as to whether use of steroids after hepatoportoenterostomy improves clinical outcome. OBJECTIVE To determine whether the addition of high-dose corticosteroids after hepatoportoenterostomy is superior to surgery alone in improving biliary drainage and survival with the native liver. DESIGN, SETTING, AND PATIENTS The multicenter, double-blind Steroids in Biliary Atresia Randomized Trial (START) was conducted in 140 infants (mean age, 2.3 months) between September 2005 and February 2011 in the United States; follow-up ended in January 2013. INTERVENTIONS Participants were randomized to receive intravenous methylprednisolone (4 mg/kg/d for 2 weeks) and oral prednisolone (2 mg/kg/d for 2 weeks) followed by a tapering protocol for 9 weeks (n = 70) or placebo (n = 70) initiated within 72 hours of hepatoportoenterostomy. MAIN OUTCOMES AND MEASURES The primary end point (powered to detect a 25% absolute treatment difference) was the percentage of participants with a serum total bilirubin level of less than 1.5 mg/dL with his/her native liver at 6 months posthepatoportoenterostomy. Secondary outcomes included survival with native liver at 24 months of age and serious adverse events. RESULTS The proportion of participants with improved bile drainage was not statistically significantly improved by steroids at 6 months posthepatoportoenterostomy (58.6% [41/70] of steroids group vs 48.6% [34/70] of placebo group; adjusted relative risk, 1.14 [95% CI, 0.83 to 1.57]; P = .43). The adjusted absolute risk difference was 8.7% (95% CI, −10.4% to 27.7%). Transplant-free survival was 58.7% in the steroids group vs 59.4% in the placebo group (adjusted hazard ratio, 1.0 [95% CI, 0.6 to 1.8]; P = .99) at 24 months of age. The percentage of participants with serious adverse events was 81.4% [57/70] of the steroids group and 80.0% [56/70] of the placebo group (P > .99); however

  10. Results of surgery in 88 consecutive cases of extrahepatic biliary atresia.

    PubMed Central

    Howard, E R; Driver, M; McClement, J; Mowat, A P

    1982-01-01

    Of 88 cases of extrahepatic biliary atresia, satisfactory bile flow has been established in 46% of the patients who have undergone portoenterostomies and in 25% of patients with hepaticojejunostomies. Histological analysis of the extrahepatic biliary tissue has not shown a consistent correlation with outcome of operation, except that the patients with one or two large residual ducts lined with columnar epithelium have a better chance of developing bile flow. Cholangitis developed in 43% of the cases, and co-trimoxazole was not shown to have any beneficial effect in a small prospective trial in 18 patients. Severe haemorrhage from oesophageal varices has occurred in 4 jaundice-free survivors. Seventeen patients are now over 3 years of age and thriving but many show persistent elevation of liver enzymes. PMID:7086788

  11. Incidental Finding of Inferior Vena Cava Atresia Presenting with Deep Venous Thrombosis following Physical Exertion

    PubMed Central

    Koppisetty, Shalini; Smith, Alton G.; Dhillon, Ravneet K.

    2015-01-01

    Inferior vena cava atresia (IVCA) is a rare but well described vascular anomaly. It is a rare risk factor for deep venous thrombosis (DVT), found in approximately 5% of cases of unprovoked lower extremity (LE) DVT in patients <30 years of age. Affected population is in the early thirties, predominantly male, often with a history of major physical exertion and presents with extensive or bilateral DVTs. Patients with IVC anomalies usually develop compensatory circulation through the collateral veins with enlarged azygous/hemizygous veins. Despite the compensatory circulation, the venous drainage of the lower limbs is often insufficient leading to venous stasis and thrombosis. We describe a case of extensive and bilateral deep venous thrombosis following physical exertion in a thirty-six-year-old male patient with incidental finding of IVCA on imaging. PMID:26640723

  12. Horizontal ventricular septum with dextroversion: hearts with and without aortic atresia.

    PubMed

    Thilenius, O G; Bharati, S; Lev, M; Karp, R B; Arcilla, R A

    1987-01-01

    Two hearts with horizontal ventricular septum, dextroversion (situs solitus), ventricular septal defects, and malaligned great vessels are reported. One of the hearts had aortic atresia and the infant died; the other patient had a Fontan-type physiologic correction. Reviewing the literature, the following conclusions are drawn: (a) Hearts with horizontal ventricular septum and those with criss-cross atrioventricular connections may be the result of different degrees of rotation of the ventricular muscle mass. This rotation is not likely to be postseptational but preseptational. (b) Only those hearts with a complete 180 degrees rotation should be called criss-cross hearts. (c) Partial rotation results in a horizontal septum such that the right ventricle is invariably superior, regardless of atrioventricular concordance or discordance, situs solitus or inversus, or dextroversion. (d) Physiologic surgical correction is often possible but has to be tailored to the details of each heart.

  13. Repair of esophageal atresia with proximal fistula using endoscopic magnetic compression anastomosis (magnamosis) after staged lengthening.

    PubMed

    Dorman, Robert M; Vali, Kaveh; Harmon, Carroll M; Zaritzky, Mario; Bass, Kathryn D

    2016-05-01

    We describe the treatment of a patient with long-gap esophageal atresia with an upper pouch fistula, mircogastria and minimal distal esophageal remnant. After 4.5 months of feeding via gastrostomy, a proximal fistula was identified by bronchoscopy and a thoracoscopic modified Foker procedure was performed reducing the gap from approximately 7-5 cm over 2 weeks of traction. A second stage to ligate the fistula and suture approximate the proximal and distal esophagus resulted in a gap of 1.5 cm. IRB and FDA approval was then obtained for endoscopic placement of 10-French catheter mounted magnets in the proximal and distal pouches promoting a magnetic compression anastomosis (magnamosis). Magnetic coupling occurred at 4 days and after magnet removal at 13 days an esophagram demonstrated a 10 French channel without leak. Serial endoscopic balloon dilation has allowed drainage of swallowed secretions as the baby learns bottling behavior at home. PMID:27012861

  14. Two Case Reports of FGF23-Induced Hypophosphatemia in Childhood Biliary Atresia.

    PubMed

    Wasserman, Halley; Ikomi, Chijioke; Hafberg, Einar T; Miethke, Alexander G; Bove, Kevin E; Backeljauw, Philippe F

    2016-08-01

    Cholestatic liver disease has long been associated with childhood rickets, secondary to impaired absorption of fat-soluble vitamin D. Elevated serum levels of fibroblast growth factor 23 (FGF23), secondary to genetic defects or tumor-induced osteomalacia, causes hypophosphatemic rickets in childhood. We present 2 infants with end-stage liver disease due to biliary atresia (BA) who developed hypophosphatemia with renal phosphate wasting. Serum FGF23 levels were elevated more than 8 times the upper limit of normal, and the older infant showed radiographic evidence of rickets. Both infants required large supplements of phosphate in addition to calcitriol. Following liver transplantation, FGF23 normalized in both patients and phosphate and calcitriol supplementation were discontinued. Immunohistochemistry revealed ectopic overexpression of FGF23 by hepatocytes in the BA liver. These observations highlight a unique cause of hypophosphatemic rickets in childhood and suggest the need for further investigation into the relationship between BA and other cholestatic disorders, and bone metabolism. PMID:27462066

  15. Coping with Congenital Hand Differences

    PubMed Central

    Franzblau, Lauren E.; Chung, Kevin C.; Carlozzi, Noelle; Chin, Autumn Y. T.; Nellans, Kate W.; Waljee, Jennifer F.

    2015-01-01

    Purpose Although functional outcomes following reconstruction for congenital hand differences are frequently described, much less is known regarding children’s ability to cope with psychosocial effects of these conditions. We qualitatively explored stress and coping mechanisms among children following reconstructive surgery for congenital hand differences. Methods Forty patients and their parents participated in semi-structured interviews examining stress related to hand functioning and appearance, emotional responses to stress, and coping strategies. Interviews were audio-taped, transcribed, and analyzed thematically. A consensus taxonomy for classifying content evolved from comparisons of coding by two reviewers. Themes expressed by participants were studied for patterns of connection and grouped into broader categories. Results In this sample, 58% of children and 40% of parents reported stress related to congenital hand differences, attributed to functional deficits (61%), hand appearance (27%), social interactions (58%), and emotional reactions (46%). Among the 18 children who reported stress, 43% of parents were not aware of the presence of stress. Eight coping strategies emerged, including humor (12%), self-acceptance (21%), avoidance (27%), seeking external support (30%), concealment (30%), educating others (9%), support programs (21%) and religion (24%). Conclusions Although children with congenital hand differences often experience emotional stress related to functional limitations and aesthetic deformities, many apply positive coping mechanisms that enhance self-esteem and self-esteem. Clinicians caring for children with congenital hand differences should inform families about potential sources of stress in order to direct resources toward strengthening coping strategies and support systems. Level of Evidence Level IV-Case series PMID:25502854

  16. Biliary Atresia

    MedlinePlus

    ... Griffin Rodgers, Director of the NIDDK Clinical Trials Current research studies and how you can volunteer Community Outreach and Health Fairs Science-based information and tips for planning an outreach effort or community event For Health Care Professionals Patient and provider resources ...

  17. Esophageal atresia

    MedlinePlus

    ... gagging, and choking with attempted feeding Drooling Poor feeding ... Before birth, a mother's ultrasound may show too much amniotic ... nose into the stomach. If the feeding tube can’t pass all the ...

  18. Alternative hybrid and staged interventional treatment of congenital heart defects in critically ill children with complex and non-cardiac problems

    PubMed Central

    Chojnicki, Maciej; Jaworski, Radosław; Steffens, Mariusz; Szofer-Sendrowska, Aneta; Paczkowski, Konrad; Kwaśniak, Ewelina; Zieliński, Jacek; Gierat-Haponiuk, Katarzyna; Leszczyńska, Katarzyna

    2015-01-01

    Introduction An individually designed strategy of comprehensive alternative hybrid and staged interventional treatment (AHASIT) can be a reasonable alternative to conventional treatment of congenital heart defects, reduce the risk of cardiac surgery or interventions performed separately, and give an additional chance for critically ill children. Aim To present our experience and the results of AHASIT of severely ill or borderline children referred for surgery with the diagnosis of congenital heart defects. Material and methods A group of 22 patients with complex cardiac and non-cardiac pathologies was retrospectively selected and analyzed. An individual preoperative severity scale was established for AHASIT patients, with one point for each of the following preoperative complications: prematurity, low body weight, cyanosis, intolerance to drug therapy, failed interventional treatment prior to admission, mechanical ventilation prior to the procedure, chronic respiratory failure and non-cardiac, mainly congenital malformations (congenital diaphragmatic hernia, lower extremity agenesia, duodenal atresia) and acquired problems (newborn edema, necrotic enterocolitis, intracranial hemorrhage, liver and renal failure, anemia and thrombocytopenia, infections or colonization with drug-resistant pathogens). Results The analysis of the postoperative course showed that the patients with 5 AHASIT points or more had a more complicated postoperative course than the patients with 1 to 4 AHASIT points. Conclusions The AHASIT of pediatric congenital heart defects with complex and non-cardiac problems appeared to be an attractive option for selected severely ill patients. The strategy was found to be effective in selected neonates suffering from complex and accompanying non-cardiac pathologies, with positive final results of both cardiological intervention and planned surgery. PMID:26240625

  19. Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.

    PubMed

    Zenteno, Juan Carlos; Perez-Cano, Hector J; Aguinaga, Monica

    2006-09-15

    The clinical combination of anophthalmia/microphthalmia and esophageal atresia was first recognized in 1988 as a distinct variable multi-system malformation syndrome and since then at least 17 cases of the disease have been described, all of them sporadic in occurrence. We report a heterozygous SOX2 gene mutation underlying the syndrome of anophthalmia/microphthalmia-esophageal atresia and demonstrate that this entity can be associated to considerable clinical variability as shown by the discordant ocular phenotype observed in monozygotic twin brothers carrying an SOX2 deletion. This is the first report describing a strikingly discordant eye phenotype in monozygotic twins with the condition, with one of our patients being the first reported individual carrying an SOX2 lesion associated with unilateral eye defect. We discuss the probable sources for this remarkable phenotypic heterogeneity of the anophthalmia/microphthalmia syndrome in individuals with an identical genetic constitution.

  20. Esophageal atresia associated with a rare vascular ring and esophageal duplication diverticulum: a case report and review of the literature.

    PubMed

    Escobar, Mauricio A; Welke, Karl F; Holland, Randall M; Caty, Michael G

    2012-10-01

    Esophageal atresia with tracheoesophageal fistula (EA-TEF) associated with a right aortic arch poses a dilemma to the pediatric surgeon, often necessitating an operative approach via a left thoracotomy. A right aortic arch may be associated with a vascular ring, and EA-TEF, too, has been reported in association with a vascular ring. Rarely, esophageal atresia is associated with a second esophageal anomaly, such as a so-called "esophageal lung." To our knowledge, there is no report of all three in one patient. We report the first case of a patient with associated EA-TEF, vascular ring (diverticulum of Kommerell), and esophageal lung. The literature is reviewed for these rare entities.

  1. Lack of Dystrophin Affects Bronchial Epithelium in mdx Mice.

    PubMed

    Morici, Giuseppe; Rappa, Francesca; Cappello, Francesco; Pace, Elisabetta; Pace, Andrea; Mudò, Giuseppa; Crescimanno, Grazia; Belluardo, Natale; Bonsignore, Maria R

    2016-10-01

    Mild exercise training may positively affect the course of Duchenne Muscular Dystrophy (DMD). Training causes mild bronchial epithelial injury in both humans and mice, but no study assessed the effects of exercise in mdx mice, a well known model of DMD. The airway epithelium was examined in mdx (C57BL/10ScSn-Dmdmdx) mice, and in wild type (WT, C57BL/10ScSc) mice either under sedentary conditions (mdx-SD, WT-SD) or during mild exercise training (mdx-EX, WT-EX). At baseline, and after 30 and 45 days of training (5 d/wk for 6 weeks), epithelial morphology and markers of regeneration, apoptosis, and cellular stress were assessed. The number of goblet cells in bronchial epithelium was much lower in mdx than in WT mice under all conditions. At 30 days, epithelial regeneration (PCNA positive cells) was higher in EX than SD animals in both groups; however, at 45 days, epithelial regeneration decreased in mdx mice irrespective of training, and the percentage of apoptotic (TUNEL positive) cells was higher in mdx-EX than in WT-EX mice. Epithelial expression of HSP60 (marker of stress) progressively decreased, and inversely correlated with epithelial apoptosis (r = -0.66, P = 0.01) only in mdx mice. Lack of dystrophin in mdx mice appears associated with defective epithelial differentiation, and transient epithelial regeneration during mild exercise training. Hence, lack of dystrophin might impair repair in bronchial epithelium, with potential clinical consequences in DMD patients. J. Cell. Physiol. 231: 2218-2223, 2016. © 2016 Wiley Periodicals, Inc.

  2. Botulinum alignment for congenital esotropia.

    PubMed Central

    Ing, M R

    1992-01-01

    This is the first report of a group of patients with congenital esotropia examined for motor and sensory evidence of binocularity a minimum of 3 years after alignment by botulinum. Evidence for binocularity was clearly present in approximately one half of the patients. Lag time to satisfactory alignment was at least 1 month (average, 5 months) following the initial botulinum injection. The results must be considered preliminary. However, when these results are compared with those of patients with congenital esotropia aligned by incisional surgery by age 2 years and examined with the same testing devices by this same investigator, botulinum alignment appears to be less effective than surgical alignment in establishing evidence for binocularity (P < 0.005). PMID:1494828

  3. Operative treatment of congenital torticollis.

    PubMed

    Shim, J S; Jang, H P

    2008-07-01

    There were 47 patients with congenital muscular torticollis who underwent operative release. After a mean follow-up of 74 months (60 to 90), they were divided into two groups, one aged one to four years (group 1) and the other aged five to 16 years (group 2). The outcomes were assessed by evaluating the following parameters: deficits of lateral flexion and rotation, craniofacial asymmetry, surgical scarring, residual contracture, subjective evaluation and degree of head tilt. The craniofacial asymmetry, residual contracture, subjective evaluation and overall scores were similar in both groups. However, group 2 showed superior results to group 1 in terms of the deficits of movement, surgical scarring and degree of head tilt. It is recommended that operative treatment for congenital muscular torticollis is postponed until the patient can comply successfully with post-operative bracing and an exercise programme.

  4. [Radiological evaluation of congenital tumors].

    PubMed

    Aguado del Hoyo, A; Ruiz Martín, Y; Lancharro Zapata, Á; Marín Rodríguez, C; Gordillo Gutiérrez, I

    2015-01-01

    In this article, we consider tumors that are diagnosed during pregnancy or in the first three months of life. This is a heterogeneous group of neoplasms with special biological and epidemiological characteristics that differentiate them from tumors arising in children or adults. In the last two decades, the prenatal detection of congenital tumors has increased due to the generalized use of prenatal sonographic screening. Advances in imaging techniques, especially in fetal magnetic resonance imaging, have enabled improvements in the diagnosis, follow-up, clinical management, and perinatal treatment of these tumors. This image-based review of the most common congenital tumors describes their histologic types, locations, and characteristics on the different imaging techniques used.

  5. Classifying sex biased congenital anomalies

    SciTech Connect

    Lubinsky, M.S.

    1997-03-31

    The reasons for sex biases in congenital anomalies that arise before structural or hormonal dimorphisms are established has long been unclear. A review of such disorders shows that patterning and tissue anomalies are female biased, and structural findings are more common in males. This suggests different gender dependent susceptibilities to developmental disturbances, with female vulnerabilities focused on early blastogenesis/determination, while males are more likely to involve later organogenesis/morphogenesis. A dual origin for some anomalies explains paradoxical reductions of sex biases with greater severity (i.e., multiple rather than single malformations), presumably as more severe events increase the involvement of an otherwise minor process with opposite biases to those of the primary mechanism. The cause for these sex differences is unknown, but early dimorphisms, such as differences in growth or presence of H-Y antigen, may be responsible. This model provides a useful rationale for understanding and classifying sex-biased congenital anomalies. 42 refs., 7 tabs.

  6. Pulmonary artery--bronchial fistula: a new complication of Swan-Ganz catheterization.

    PubMed

    Rubin, S A; Puckett, R P

    1979-04-01

    A patient with a Swan-Ganz catheter developed massive hemoptysis. Injection of radiographic contrast media through the catheter revealed rapid filling of the tracheo-bronchial tree, consistent with direct pulmonary artery-bronchial communication. Development of hemoptysis in a patient with a Swan-Ganz catheter should alert the clinician to this possibility. PMID:446146

  7. [Phototherapy and sleep deprivation as additional methods of treating bronchial asthma patients].

    PubMed

    Maevskiĭ, A A

    1991-05-01

    Correction of internal desynchronosis in bronchial asthma by means of phototherapy and partial sleep deprivation was instituted in 4 hormone-dependent patients with bronchial asthma for 13 months. The results were positive: the frequency and severity of night attacks reduced, the condition of the patients improved.

  8. Intrabronchial Infusion of Autologous Blood Plus Thrombin for Intractable Pneumothorax After Bronchial Occlusion Using Silicon Spigots

    PubMed Central

    Nakahara, Yasuharu; Kawamura, Tetsuji; Sasaki, Shin; Tsukamoto, Hiroaki; Mochiduki, Yoshiro

    2016-01-01

    Background: Bronchial occlusion therapy using silicon spigots is effective for intractable pneumothorax. However, sometimes the pneumothorax is refractory to bronchial occlusion because of collateral ventilation. For such difficult pneumothoraces, we attempted an intrabronchial infusion of autologous blood plus thrombin to control collateral ventilation and stop air leaks. Methods: We performed bronchial occlusions using silicon spigots in patients with spontaneous pneumothorax secondary to emphysema and refractory to chest drainage, but which was inoperable owing to each patient’s poor surgical candidacy and poor overall health condition. When bronchial occlusion proved ineffective, we undertook intrabronchial infusion of autologous blood plus thrombin, 2 to 4 days after bronchial occlusion. A catheter was inserted into the subpleural area, through a gap between the silicon spigot and the bronchial wall, using a flexible bronchoscope under fluoroscopic guidance. Autologous blood, followed by a thrombin solution, was infused using the catheter. We repeated the same infusion a total of 4 to 6 times while changing the target bronchi. All interventions were performed under local anesthesia. Results: The subjects were 9 men, aged from 61 to 88 years, with smoking histories. Three patients also had interstitial pneumonia, and 6 patients had undergone pleurodesis in vain before bronchial occlusion. For 4of the 9 patients, autologous blood plus thrombin infusions successfully stopped air leaks, and in 3 patients, intrabronchial infusions and pleurodesis halted leaks altogether. Conclusion: Intrabronchial infusion of autologous blood plus thrombin was effective for intractable pneumothoraces that could not be clinically managed, even by bronchial occlusion using silicon spigots. PMID:27454474

  9. Banding of Nonrestrictive Large Hypertensive Aortopulmonary Collaterals in Patients With Ventricular Septal Defect and Pulmonary Atresia Presenting in Suboptimal Condition.

    PubMed

    Dutta Baruah, Sudip; Singh, Vishal Kamalaprasad; Marwah, Ashutosh; Sharma, Rajesh

    2016-09-01

    Infants with pulmonary atresia and nonrestrictive ventricular septal defect with large hypertensive aortopulmonary collaterals demand early surgical intervention. This presentation in the extremely low-weight child or in the moribund septic child may preclude single-stage repair even if anatomically suited. We propose that such infants may be temporized by means of banding of individual aortopulmonary collaterals as a means of bridging to a second-stage complete repair. Two such cases are presented. PMID:27587500

  10. Di(2-ethylhexyl) phthalate inhibits antral follicle growth, induces atresia, and inhibits steroid hormone production in cultured mouse antral follicles

    SciTech Connect

    Hannon, Patrick R. Brannick, Katherine E. Wang, Wei Gupta, Rupesh K. Flaws, Jodi A.

    2015-04-01

    Di(2-ethylhexyl) phthalate (DEHP) is a ubiquitous environmental toxicant found in consumer products that causes ovarian toxicity. Antral follicles are the functional ovarian units and must undergo growth, survival from atresia, and proper regulation of steroidogenesis to ovulate and produce hormones. Previous studies have determined that DEHP inhibits antral follicle growth and decreases estradiol levels in vitro; however, the mechanism by which DEHP elicits these effects is unknown. The present study tested the hypothesis that DEHP directly alters regulators of the cell cycle, apoptosis, and steroidogenesis to inhibit antral follicle functionality. Antral follicles from adult CD-1 mice were cultured with vehicle control or DEHP (1–100 μg/ml) for 24–96 h to establish the temporal effects of DEHP on the follicle. Following 24–96 h of culture, antral follicles were subjected to gene expression analysis, and media were subjected to measurements of hormone levels. DEHP increased the mRNA levels of cyclin D2, cyclin dependent kinase 4, cyclin E1, cyclin A2, and cyclin B1 and decreased the levels of cyclin-dependent kinase inhibitor 1A prior to growth inhibition. Additionally, DEHP increased the mRNA levels of BCL2-associated agonist of cell death, BCL2-associated X protein, BCL2-related ovarian killer protein, B-cell leukemia/lymphoma 2, and Bcl2-like 10, leading to an increase in atresia. Further, DEHP decreased the levels of progesterone, androstenedione, and testosterone prior to the decrease in estradiol levels, with decreased mRNA levels of side-chain cleavage, 17α-hydroxylase-17,20-desmolase, 17β-hydroxysteroid dehydrogenase, and aromatase. Collectively, DEHP directly alters antral follicle functionality by inhibiting growth, inducing atresia, and inhibiting steroidogenesis. - Highlights: • DEHP inhibits antral follicle growth by dysregulating cell cycle regulators. • DEHP induces antral follicle atresia by dysregulating apoptosis regulators. • DEHP

  11. Reverse Szabo technique for stenting a single major aorto-pulmonary collateral vessel in pulmonary atresia with ventricular septal defect

    PubMed Central

    Breinholt, John P.; Rao, Sri O.; Buchneva, Olga V.

    2016-01-01

    Management of pulmonary atresia with ventricular septal defect (PA-VSD) in the neonatal period presents numerous challenges. Endovascular stenting of the ductus arteriosus or of a collateral vessel in ductal-dependent pulmonary circulation as an alternative to the Blalock-Taussig (BT) shunt has become increasingly popular in the last decades. The utilization of the reverse Szabo (anchor-wire) technique for single collateral vessel stenting in a case of PA-VSD is described.

  12. Congenital errors of folate metabolism.

    PubMed

    Zittoun, J

    1995-09-01

    Congenital errors of folate metabolism can be related either to defective transport of folate through various cells or to defective intracellular utilization of folate due to some enzyme deficiencies. Defective transport of folate across the intestine and the blood-brain barrier was reported in the condition 'Congenital Malabsorption of Folate'. This disease is characterized by a severe megaloblastic anaemia of early appearance associated with mental retardation. Anaemia is folate-responsive, but neurological symptoms are only poorly improved because of the inability to maintain adequate levels of folate in the CSF. A familial defect of cellular uptake was described in a family with a high frequency of aplastic anaemia or leukaemia. An isolated defect in folate transport into CSF was identified in a patient suffering from a cerebellar syndrome and pyramidal tract dysfunction. Among enzyme deficiencies, some are well documented, others still putative. Methylenetetrahydrofolate reductase deficiency is the most common. The main clinical findings are neurological signs (mental retardation, seizures, rarely schizophrenic syndromes) or vascular disease, without any haematological abnormality. Low levels of folate in serum, red blood cells and CSF associated with homocystinuria are constant. Methionine synthase deficiency is characterized by a megaloblastic anaemia occurring early in life that is more or less folate-responsive and associated with mental retardation. Glutamate formiminotransferase-cyclodeaminase deficiency is responsible for massive excretion of formiminoglutamic acid but megaloblastic anaemia is not constant. The clinical findings are a more or less severe mental or physical retardation. Dihydrofolate reductase deficiency was reported in three children presenting with a megaloblastic anaemia a few days or weeks after birth, which responded to folinic acid. The possible relationship between congenital disorders such as neural tube defects or

  13. [Congenital heart diseases and sports].

    PubMed

    Martínez Quintana, E; Agredo Muñoz, J; Rodríguez González, F; Nieto Lago, V

    2008-04-01

    Congenital heart diseases are a frequent cause of cardiology consultation. New diagnostic and therapeutic techniques have allowed greater survival and quality of life of patients who wish to participate in sports. What they can do is not always easy to determine. Guidelines are helpful at the time of deciding, although finally is the doctor the one that must determine in each case the situation of the patient and the type of exercise they can do depending on the severity and type of cardiopathy.

  14. Congenital malformations of human dermatoglyphs

    PubMed Central

    David, T. J.

    1973-01-01

    A classification for congenital malformations of dermatoglyphs is presented, dividing them into ridge aplasia, ridge hypoplasia, ridge dissociation, ridges-off-the-end, and a combination of the last two. The medical and genetic significance of these are considered in the light both of previous published cases and of new material. Malformations of dermatoglyphs are important as physical signs in paediatric diagnosis. ImagesFIG. 1FIG. 2FIG. 3FIG. 4FIG. 5FIG. 6FIG. 7 PMID:4693462

  15. [Bronchial asthma in a hairdresser caused by hair bleach].

    PubMed

    Schwaiblmair, M; Baur, X; Fruhmann, G

    1990-05-01

    Three years after starting to work as a hairdresser a 33-year-old woman developed urticaria on contact with hairbleach. After a further four years rhinoconjunctivitis set in and later also bronchial asthma on contact with such bleaches. Extensive tests revealed hypersensitivity to widely used persulphate-containing bleaching liquids which ultimately forced the patient to give up her profession. The causative role of this group of chemicals was proven by positive skin tests and specific workplace-related provocation tests. But specific IgE antibodies could not be demonstrated. The findings suggest a pseudoallergic reaction.

  16. Central bronchial carcinoid: Management of a case and anesthetic perspectives.

    PubMed

    Goswami, D; Kashyap, L; Batra, R K; Bhagat, C

    2016-01-01

    Obstructing lesions of the central airways present with a variety of symptoms and are often associated with pneumonia or asthma-like states. Anesthesia to these patients often presents challenges right from the preoperative stabilization of underlying lung condition, mask ventilation in the supine position to maintaining oxygenation and ventilation in the intraoperative and postoperative period. We present here a case of a young woman with a central bronchial tumor with significant airway obstruction with potential for major bleeding and subsequent anesthetic management without lung sacrificing measures and cardiopulmonary bypass assistance. PMID:26955320

  17. [Flexible bronchoscopy techniques: bronchoalveolar lavage, bronchial biopsy and transbronchial biopsy].

    PubMed

    Escribano Montaner, A; Moreno Galdó, A

    2005-04-01

    This article completes previous recommendations of the Techniques Group of the Spanish Society of Pediatric Pulmonologists on the practice of flexible bronchoscopy in children. We review the most frequently performed diagnostic and therapeutic procedures applied through the flexible bronchoscope: bronchoalveolar lavage, bronchial biopsy and transbronchial biopsy. Recommendations are also provided on the practice of nonbronchoscopic bronchoalveolar lavage. We review the indications and contraindications of these techniques, the equipment required, and the preparation and monitoring of the patient before, during and after the procedure. The complications of these techniques are also discussed. These recommendations may be adopted, modified or rejected according to clinical needs and constraints.

  18. [Body build and body proportions in children with bronchial asthma].

    PubMed

    Umławska, Wioleta

    2011-01-01

    This paper is a literature review of somatic development in children with chronic bronchial asthma. Asthma is the most common chronic inflammatory disease of the respiratory system in children and youth that is increasing in prevalence. In spite of significant progress in treatment, growth problems are often observed in children with asthma. Growth delay in asthmatic children, increased incidence of short stature, distorted body proportions and nutritional status impairment are reported frequently, in spite of inhaled corticosteroid drugs treatment. The severity of the asthma influences growth outcomes. The issue of growth in children with chronic asthma requires further detailed studies in its clinical and auxological aspects.

  19. [Bronchial asthma in a hairdresser caused by hair bleach].

    PubMed

    Schwaiblmair, M; Baur, X; Fruhmann, G

    1990-05-01

    Three years after starting to work as a hairdresser a 33-year-old woman developed urticaria on contact with hairbleach. After a further four years rhinoconjunctivitis set in and later also bronchial asthma on contact with such bleaches. Extensive tests revealed hypersensitivity to widely used persulphate-containing bleaching liquids which ultimately forced the patient to give up her profession. The causative role of this group of chemicals was proven by positive skin tests and specific workplace-related provocation tests. But specific IgE antibodies could not be demonstrated. The findings suggest a pseudoallergic reaction. PMID:2139846

  20. Congenital Portosystemic Shunt: Our Experience

    PubMed Central

    Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

    2015-01-01

    Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis. PMID:25709849

  1. Transthoracic single port with peroral assistance: an animal experiment to assess a less invasive technique for human esophageal atresia repair.

    PubMed

    Henriques-Coelho, Tiago; Soares, Tony R; Miranda, Alice; Moreira-Pinto, João; Correia-Pinto, Jorge

    2012-12-01

    Thoracoscopic repair of esophageal atresia has becoming the gold standard in many centers because it allows a better cosmetic result and avoids the musculoskeletal sequelae of a thoracotomy. Natural orifice translumenal endocopic surgery (NOTES) is a new surgical paradigm, and its human application has already been started in some procedures. In the present study, we explore the feasibility of performing an esophagoesophageal anastomosis using a single transthoracic single port combined with a peroral access in a rabbit model to simulate repair of esophageal atresia by hybrid NOTES in a human newborn. Adult male rabbits (Oryctolagus cuniculus, n=28) were used to perform the surgical protocol. We used a transthoracic telescope with a 3-mm working channel and a flexible endoscope with a 2.2-mm working channel by peroral access. We performed total esophagotomy with peroral scissors followed by an esophagoesophageal anastomosis achieved with a rigid transthoracic scope helped by the peroral operator. Extracorporeal transthoracic knots were performed to complete the anastomosis. The anastomoses were examined in loco and ex loco, after animal sacrifice. We successfully accomplished a complete esophageal anastomosis in all rabbits using a combination of transthoracic and peroral 3-mm instruments. This study provides important insights for a possible translation of hybrid NOTES to human newborns with esophageal atresia. Forward studies to accomplish their feasibility in human newborns will still be necessary.

  2. Genomewide Scan for Anal Atresia in Swine Identifies Linkage and Association With a Chromosome Region on Sus scrofa Chromosome 1

    PubMed Central

    Wiedemann, Sabine; Fries, Ruedi; Thaller, Georg

    2005-01-01

    Anal atresia is a rare and severe disorder in swine occurring with an incidence of 0.1–1.0%. A whole-genome scan based on affected half-sibs was performed to identify susceptibility loci for anal atresia. The analysis included 27 families with a total of 95 animals and 65 affected piglets among them. Animals were genotyped for 126 microsatellite markers distributed across the 18 autosomal porcine chromosomes and the X chromosome, covering an estimated 2080 cM. Single-point and multipoint nonparametric linkage scores were calculated using the computer package ALLEGRO 1.0. Significant linkage results were obtained for chromosomes 1, 3, and 12. Markers on these chromosomes and additionally on chromosomes for which candidate genes have been postulated in previous studies were subjected to the transmission disequilibrium test (TDT). The test statistic exceeded the genomewide significance level for adjacent markers SW1621 (P = 7 × 10−7) and SW1902 (P = 3 × 10−3) on chromosome 1, supporting the results of the linkage analysis. A specific haplotype associated with anal atresia that could prove useful for selection against the disorder was revealed. Suggestive linkage and association were also found for markers S0081 on chromosome 9 and SW957 on chromosome 12. PMID:16020797

  3. The frequency and importance of bronchial hyperreactivity in patients with allergic and non-allergic rhinitis.

    PubMed

    Dziedziczko, A; Gniazdowski, R

    1977-01-01

    A trial was undertaken to evaluate the occurrence of bronchial hyperreactivity, typical of bronchial asthma, in 50 patients with hay fever (rhinitis allergica) and 45 patients with rhinitis vasomotorica nonallergica, as opposed to a group of healthy subjects and patients with bronchial asthma. All the patients were subjected to spirographic examinations at rest (VC, FEV1, ETT, SI), after exercise (PWC170), and after histamine inhalation. The authors believe that it is expedient to study bronchial hyperreactivity in patients with hay fever and rhinitis vasomotorica nonallergica in that it affords possibilities for the prevision of the conceivable unfavourable evolution of the disease towards the atopic or non-atopic bronchial asthma, as well as for the taking of adequate preventive and therapeutic measures. PMID:920144

  4. [Some modern views of the role of the eosinophils in allergic reactions and bronchial asthma and a new method of detecting eosinophils in the bronchial secretion].

    PubMed

    Denchev, K; Lipcheva, N; Kis'ova, K

    1976-01-01

    A review of certain contemporary opinions of eosinophil function in allergic reactions and bronchial asthma is presented in this report. Phagocytosis and processing of the complexes antigenantibody, histamine inhibition and a histamine elimination elimination by a specific inhibitor, isolated from eosinophilis (EDI), stimulation of prostaglandines E release, which also inhibit histamine and have a bronchial dilataion effect. The new method is recommended for eosinophil detection in sputa based on the fluorescent principle as faster and more efficient.

  5. The Contegra valved bovine conduit: a biomaterial for the surgical treatment of congenital heart defects.

    PubMed

    Yuan, Shi-Min

    2012-12-01

    Contegra, a bovine jugular vein graft, has been widely used as a preferable biomaterial in the surgical treatment of congenital heart defects, especially as a conduit for the right ventricular outflow tract reconstruction. This article aims to make a comprehensive review on the clinical outcomes of Contegra. Reports of Contegra published since 2002 were comprehensively retrieved, collected and analyzed. There were 1718 Contegra, applied in 1705 patients. The sizes of the conduits were 8-22 mm. The patients aged from newborn to 74.5 years, prevailed by pediatrics. The primary diagnosis was congenital heart defects in all cases, with Tetralogy of Fallot, truncus arteriosus and pulmonary atresia being the first three diagnoses, representing 25.6%, 16.7%, and 13.1%, respectively. Contegra was used as a tube graft in the pulmonary position in 1635 (95.9%) patients, as a monocuspid patch in 12 (0.7%), as a graft in the position of the pulmonary valve or a monocusps in 40 (2.3%), and as an inferior vena cava-pulmonary artery conduit in the Fontan procedure in 18 (1.1%) patients, respectively. Conduit reimplantation was performed in 141 (8.3%) patients 33.8 ± 37 (8.6-106.8) months after the initial conduit insertion. Conduit plasty was necessary in 6 (0.4%), and reintervention in 83 (4.9%) patients. Indications for conduit reimplantation included severe stenosis of the distal anastomosis, pseudoaneurysm of the proximal anastomosis and severe conduit regurgitation. As for the good performance, availability and longevity, Contegra is a biomaterial suitable for the right ventricular outflow tract reconstruction and for patch repair for ventricular septal defect, but not apt for Fontan procedure. PMID:23152287

  6. Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.

    PubMed

    Yoshida, Akiko; Morisaki, Hiroko; Nakaji, Mai; Kitano, Masataka; Kim, Ki-Sung; Sagawa, Koichi; Ishikawa, Shiro; Satokata, Ichiro; Mitani, Yoshihide; Kato, Hitoshi; Hamaoka, Kenji; Echigo, Shigeyuki; Shiraishi, Isao; Morisaki, Takayuki

    2016-02-01

    Congenital heart disease (CHD) is the most common birth defect occurring in humans and some transcriptional factors have been identified as causative. However, additional mutation analysis of these genes is necessary to develop effective diagnostic and medical treatment methods. We conducted sequence analysis of the coding regions of NKX2.5, GATA4, TBX1, TBX5, TBX20, CFC1 and ZIC3 in 111 Japanese patients with non-syndromic CHD and 9 of their relatives. All patient samples were also analyzed by multiplex ligation-dependent probe amplification using probes involved in chromosome deletion related to CHD. Five novel variations of TBX5, GATA4 and TBX20 were detected in 6 of the patients, whereas none were found in 200 controls. The TBX5 variation p.Pro108Thr, located in the T-box domain, was identified in a patient with tricuspid atresia, an exon-intron boundary variation of GATA4 (IVS4+5G>A) was detected in a Tetralogy of Fallot patient and an 8p23 microdeletion was detected in one patient with atrioventricular septal defect and psychomotor delay. A total of seven non-synonymous polymorphisms were found in the patients and controls. Accumulation of novel variations of genes involving the cardiac development may be required for better understanding of CHD. PMID:26490186

  7. Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

    PubMed Central

    Konrad, H; Merriam, J C; Jones, I S

    1995-01-01

    PURPOSE: This paper describes the surgical rehabilitation of a child with craniofacial anomalies, unilateral syndactyly, and partial unilateral cryptophthalmos associated with inferior colobomata of the iris and optic nerve and agenesis of the inferior rectus and inferior oblique muscles. The clinical presentation of cryptophthalmos is described. METHODS: The medical literature since the original description of cryptophthalmos in 1872 was reviewed to define patterns of inheritance and the incidence of associated anomalies. RESULTS: Including this patient, 149 case reports of cryptophthalmos were identified. In two families transmission from parent to child suggests dominant inheritance. None of the five dominant cases had any other anomalies, and all had bilateral complete cryptophthalmos. The incidence of cryptophthalmos in the remaining families is consistent with autosomal recessive inheritance. This group includes patients with bilateral, unilateral, and partial cryptophthalmos. Other anomalies are common, including those of the ear and nose, limbs, genitourinary system, and mouth and palate. Mortality in the perinatal period is associated with renal agenesis, laryngeal atresia, and pulmonary hypoplasia. CONCLUSIONS: Cryptophthalmos is a rare congenital anomaly with two patterns of inheritance. Images FIGURE 1 FIGURE 2 FIGURE 3 FIGURE 4 FIGURE 5 FIGURE 6 FIGURE 7 FIGURE 8 FIGURE 9 FIGURE 10 FIGURE 11 FIGURE 12 FIGURE 13 PMID:8719680

  8. Prenatal diagnosis of congenital anomalies requiring surgical correction. Implications for the future.

    PubMed

    Dibbins, A W; Curci, M R; McCrann, D J

    1985-04-01

    With the use of maternal ultrasonography, 22 infants had an anomaly identified before delivery. Nine had gastrochisis. In all, ultrasonography was performed because of an elevated maternal serum alpha 1 fetoprotein level. Ultrasonography for other indications identified three infants with omphaloceles, three with cystic adenomatoid malformation of the lung, two with duodenal atresia, two with posterior urethral valves, and one each with obstruction of the ureteropelvic junction, a retroperitoneal teratoma, and an ovarian cyst. Infants were delivered in a neonatal center able to provide total care from the time of birth, thus the risks of transport over long distances were avoided. One of the infants with cystic adenomatoid malformation was incorrectly diagnosed as having a congenital diaphragmatic hernia, and the complete posterior urethral valve bilateral hydronephrosis complex was not identified in this infant until after delivery. The ability to diagnose complex anomalies correctly places new responsibilities on the surgeon who must counsel the parents on his ability to successfully treat the identified anomaly. Improved diagnostic accuracy, increased case findings, careful counselling, and delivery of high-risk infants in regional centers must be major priorities to improve neonatal surgical care in the next decade.

  9. [Anophthalmia and congenital cataract: case report].

    PubMed

    Santana, Alessandro; Koller, Karine; Waiswol, Mauro

    2005-01-01

    The authors report a case of anophthalmia, congenital cataract and systemic malformations. Male patient, 6 months old, left anophthalmia and congenital posterior polar cataract in the right eye. The patient was treated with manual aspiration of the crystalline lens, with no intraocular lens implantation with primary posterior capsulorhexis and anterior vitrectomy through a small incision. The association of anophthalmia and congenital cataract is rare. The early diagnosis and management in these cases is very important for the best visual rehabilitation.

  10. Congenital generalized terminal hypertrichosis with gingival hyperplasia.

    PubMed

    Guevara-Sanginés, Esther; Villalobos, Alejandra; Vega-Memije, Ma Elisa; Mosqueda-Taylor, Adalberto; Canún-Serrano, Sonia; Lacy-Niebla, Rosa Ma

    2002-01-01

    Congenital generalized terminal hypertrichosis is a rare disease, especially when associated with gingival hyperplasia. Congenital hypertrichosis can be a clinical feature of several syndromes, so these patients must be studied by a multidisciplinary team that should include a dermatologist, geneticist, psychologist, odontologist, and an endocrinologist. We report a 7-year-old girl with congenital generalized hypertrichosis and gingival hyperplasia, and analyze the clinical approach, differential diagnosis, and treatment. PMID:11994171

  11. Congenital infiltrative lipomas in a calf.

    PubMed

    Sickinger, Marlene; Wasieri, Jasmin; Koehler, Kernt; Doll, Klaus; Reinacher, Manfred

    2009-09-01

    The current report describes a case of congenital subcutaneous and intramuscular tumors of the neck and tail base in a 4-week-old female Angus-Charolais crossbred calf. Results of clinical and ultrasound examination are summarized. Biopsy and necropsy findings indicated an infiltrative lipoma. Congenital lipomas are uncommon tumors in bovids. Clinical and morphologic differentials, as well as classification and the possible pathogenesis of congenital neoplasms, are discussed. PMID:19737773

  12. Modified bronchial anastomosis in video-assisted thoracoscopic sleeve lobectomy: a report of 32 cases

    PubMed Central

    Chen, Hao; Huang, Lin; Xu, Guobing; Zheng, Bin; Zheng, Wei; Zhu, Yong; Guo, Zhaohui

    2016-01-01

    Background Bronchial anastomosis is a key technical challenge in sleeve lobectomy, especially when using the video-assisted thoracoscopic surgery (VATS) approach. A retrospective study was conducted to evaluate the feasibility and safety of a modified bronchial anastomosis technique developed by the authors at Fujian Union Hospital. Methods From October 2010 to October 2015, we performed 32 cases of VATS sleeve lobectomy through a three-port or single-port approach. All bronchial anastomoses were performed using modified bronchial anastomosis technique: the bronchial anastomosis was begun with an initial stitch on the posterior wall, and the bilateral quarters of the circumference were continuously sutured. The other two bilateral quarters were then similarly sutured, and the last knot was made outside the bronchial lumen. Results All cases were completed uneventfully. No perioperative deaths or serious complications occurred. The mean operative time, bronchial anastomosis time, and blood loss volume were 271.8±67.5, 37.6±12.0 min, and 177.5±102.9 mL, respectively. The mean follow-up time was 21.0±11.7 months, and the follow-up rate was 96.9% (31/32). An electronic bronchoscope scan was performed 6 months after surgery, and a fine healing stoma was detected in all cases. No anastomotic fistula, anastomotic stenosis, or other serious postoperative anastomotic complications occurred until the end of follow-up. Conclusions Modified bronchial anastomosis technique applied in bronchial anastomosis was safe and feasible in three-port and single-port VATS sleeve lobectomy with good short-term and long-term therapeutic results. Adequate management of the operative process and implementation of a skilled bronchial anastomosis technique could help to reduce the difficulty of VATS sleeve lobectomy. PMID:27621881

  13. Modified bronchial anastomosis in video-assisted thoracoscopic sleeve lobectomy: a report of 32 cases

    PubMed Central

    Chen, Hao; Huang, Lin; Xu, Guobing; Zheng, Bin; Zheng, Wei; Zhu, Yong; Guo, Zhaohui

    2016-01-01

    Background Bronchial anastomosis is a key technical challenge in sleeve lobectomy, especially when using the video-assisted thoracoscopic surgery (VATS) approach. A retrospective study was conducted to evaluate the feasibility and safety of a modified bronchial anastomosis technique developed by the authors at Fujian Union Hospital. Methods From October 2010 to October 2015, we performed 32 cases of VATS sleeve lobectomy through a three-port or single-port approach. All bronchial anastomoses were performed using modified bronchial anastomosis technique: the bronchial anastomosis was begun with an initial stitch on the posterior wall, and the bilateral quarters of the circumference were continuously sutured. The other two bilateral quarters were then similarly sutured, and the last knot was made outside the bronchial lumen. Results All cases were completed uneventfully. No perioperative deaths or serious complications occurred. The mean operative time, bronchial anastomosis time, and blood loss volume were 271.8±67.5, 37.6±12.0 min, and 177.5±102.9 mL, respectively. The mean follow-up time was 21.0±11.7 months, and the follow-up rate was 96.9% (31/32). An electronic bronchoscope scan was performed 6 months after surgery, and a fine healing stoma was detected in all cases. No anastomotic fistula, anastomotic stenosis, or other serious postoperative anastomotic complications occurred until the end of follow-up. Conclusions Modified bronchial anastomosis technique applied in bronchial anastomosis was safe and feasible in three-port and single-port VATS sleeve lobectomy with good short-term and long-term therapeutic results. Adequate management of the operative process and implementation of a skilled bronchial anastomosis technique could help to reduce the difficulty of VATS sleeve lobectomy.

  14. History of the Congenital Heart Surgeons' Society.

    PubMed

    Mavroudis, Constantine; Williams, William G

    2015-10-01

    The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society.

  15. Genetics Home Reference: congenital sucrase-isomaltase deficiency

    MedlinePlus

    ... and other compounds made from these sugar molecules (carbohydrates). Congenital sucrase-isomaltase deficiency usually becomes apparent after ... isomaltase deficiency, congenital Merck Manual for Healthcare Professionals: Carbohydrate ... Congenital sucrase-isomaltase deficiency The American ...

  16. [A case of recurrent cough in bronchial carcinoid].

    PubMed

    Strano, M; Funis, M; Frediani, S; Duvina, P L

    1999-01-01

    The carcinoid tumors of the bronchial are extremely uncommon, with an incidence of 5% of all pulmonary neoplasms. The carcinoid is the more frequent tumor of the lung in paediatric age. The symptoms most often reported were cough, recurring infection, chest pain, hemoptysis, fever, dyspnea, mild dyspnea attacks after physical effort or nervousness. The carcinoid syndrome is uncommon. Neuroendocrine tumors of the lung embrace a spectrum from low-grade typical carcinoid, intermediate-grade atypical carcinoid, and high-grade categories of large cell neuroendocrine carcinoma and small cell carcinoma. Low grade neoplasms may metastasize to adjacent nodes. Atypical carcinoids are considered low grade malignancies. Most malignant end of neuroendocrine neoplasm group is small cell carcinoma. Typical carcinoids carry an excellent prognosis and should be offered conservative lung resection, whilst atypical carcinoids which behave aggressively should be treated by radical lung resection. The authors report a case of the young patients with bronchial typical carcinoid tumor who had suffered from cough and mild dyspnea attacks after physical effort or nervousness in the last year. PMID:10570790

  17. [Preoperative Management of Patients with Bronchial Asthma or Chronic Bronchitis].

    PubMed

    Hagihira, Satoshi

    2015-09-01

    Bronchial asthma is characterized by chronic airway inflammation. The primary goal of treatment of asthma is to maintain the state of control. According to the Japanese guidelines (JGL2012), long-term management consists of 4 therapeutic steps, and use of inhaled corticosteroids (ICS) is recommended at all 4 steps. Besides ICS, inhalation of long-acting β2-agonist (LABA) is also effective. Recently, omalizumab (a humanized antihuman IgE antibody) can be available for patients with severe allergic asthma. Although there is no specific strategy for preoperative treatment of patients with asthma, preoperative systemic steroid administration seemed to be effective to prevent asthma attack during anesthesia. The most common cause of chronic bronchitis is smoking. Even the respiratory function is within normal limits, perioperative management of patients with chronic bronchitis is often troublesome. The most common problem is their sputum. To minimize perioperative pulmonary complication in these patients, smoking cessation and pulmonary rehabilitation are essential. It is known that more than 1 month of smoking cessation is required to reduce perioperative respiratory complication. However, even one or two weeks of smoking cessation can decrease sputum secretion. In summary, preoperative optimization is most important to prevent respiratory complication in patients with bronchial asthma or chronic bronchitis. PMID:26466493

  18. Assessment of bronchial beta blockade after oral bevantolol.

    PubMed

    Mackay, A D; Gribbin, H R; Baldwin, C J; Tattersfield, A E

    1981-01-01

    We have applied a new method for quantitative measurement of bronchial beta adrenoceptor blockade to a new beta adrenoceptor antagonist, bevantolol. Dose-response curves to a beta agonist, albuterol, were obtained in six normal subjects by measuring specific airway conductance (sGaw) after increasing doses of inhaled albuterol. These were repeated on three separate occasions 2 hr after subjects had taken oral placebo or bevantolol (75 or 150 mg), double-blind in random order. The dose-response curves after bevantolol 75 mg were displaced in the right of placebo in four subjects and after 150 mg were displaced to the right of placebo in all subjects. The mean dose ratios for bevantolol 75 or 150 mg were 1.02 and 2.77, much the same as those obtained in the same subjects after practolol 100 and 200 mg and considerably less than that after propranolol 40 mg. The mean reductions in exercise heart rate were 25% and 29% after bevantolol 75 and 150 mg. Our data show that bronchial beta blockade after a beta blocking drug can be assessed quantitatively in many by a double-blind technique.

  19. Parental smoking, bronchial reactivity and peak flow variability in children

    PubMed Central

    Cook, D.; Strachan, D.

    1998-01-01

    BACKGROUND—A systematic quantitative review was conducted of the evidence relating environmental tobacco smoke to bronchial hyperresponsiveness (BHR) during childhood.
METHODS—Twenty nine relevant studies were identified after consideration of 1593 articles selected by electronic search of the Embase and Medline databases using keywords relevant to passive smoking in children. The search was completed in April 1997.
RESULTS—Of 19 studies using challenge tests in children of school age, 10 (5759 children) could be summarised as the odds ratio of being bronchial hyperreactive in children exposed to environmental tobacco smoke compared with those not exposed. The pooled odds ratio for maternal smoking was 1.29 (95% confidence limits 1.10to 1.50) with no evidence of heterogeneity between studies. However, in five further studies of 3531 children providing some evidence, but not odds ratios, none were statistically significant. A further four studies on 5233 children have collected data but are not published. In contrast, all four studies of circadian variation in peak expiratory flow found increased variation in children exposed to environmental tobacco smoke.
CONCLUSIONS—A clear effect of exposure to environmental tobacco smoke on BHR in the general population has not been established. While the meta-analysis suggests a small but real increase in BHR in school aged children, it seems likely that this estimate is biased upwards due to publication bias. In contrast, limited evidence suggests greater variation in peak expiratory flow in children of smoking parents.

 PMID:9741375

  20. Endoscopic bronchial occlusion with silicone spigots under virtual bronchoscopic navigation

    PubMed Central

    Sato, Shingo; Shiroyama, Takayuki; Nishida, Takuji; Nishihara, Takashi; Okamoto, Norio

    2016-01-01

    Abstract A 68‐year‐old woman with interstitial lung disease related to dermatomyositis and systemic scleroderma was admitted to our hospital with fever and dyspnoea. Although the fever was reduced after antibiotic therapy, a left pneumothorax suddenly occurred on day 27 after admission. A continuous air leak persisted despite chest drainage with three tubes and repeated pleurodesis. Chest computed tomography (CT) images showed a cavitary lesion with a pinhole in the left upper division, which was suspected to be the affected lesion with the air leak. Virtual bronchoscopic navigation images were constructed from CT data. Bronchial occlusion with Endobronchial Watanabe Spigots (EWSs) was performed on day 52. Two medium‐sized EWSs were inserted into the left B1 + 2a and B1 + 2b, and the air leak stopped immediately. No procedure‐related adverse events occurred. All three chest tubes were successfully removed by day 60. This case demonstrates that virtual bronchoscopic navigation can improve bronchial occlusion procedures using EWSs. PMID:27512560

  1. Efficacy of naturopathy and yoga in bronchial asthma.

    PubMed

    Rao, Y Chitharanjan; Kadam, Avinash; Jagannathan, Aarti; Babina, N; Rao, Raghavendra; Nagendra, Hongasandra Ramarao

    2014-01-01

    The aim of the study was to test the efficacy of a one month in-patient naturopathy and yoga programme for patients with asthma. Retrospective data of 159 bronchial asthma patients, undergoing the naturopathy and yoga programme, was analyzed for Forced Vital Capacity, Forced Expiratory Volume at the end of 1 second, Maximum Voluntary Ventilation and Peak Expiratory Flow Rate on admission, 11th day, on discharge and once in three months for three years. The paired sample t test results showed significant increase in the Forced Vital Capacity and Forced Expiratory Volume from the date of admission up to 6th month (P < 0.0035) post Bonferroni correction. Maximum Voluntary Ventilation significantly increased from admission till the date of discharge (P < 0.0035) and Peak Expiratory Flow Rate significantly increased from admission till the 36th month of follow-up (P < 0.0035), post Bonferroni correction. This validated the beneficial effect of combining naturopathy and yoga for the management of bronchial asthma.

  2. Human bronchial epithelial cells express and secrete MMP-12.

    PubMed

    Lavigne, Mark C; Thakker, Paresh; Gunn, Jason; Wong, Anthony; Miyashiro, Joy S; Wasserman, Aeona M; Wei, Shui-Qing; Pelker, Jeffrey W; Kobayashi, Michiko; Eppihimer, Michael J

    2004-11-12

    Matrix metalloproteinases (MMPs) degrade extracellular matrix proteins, which may be responsible for enlargement of alveoli in chronic obstructive pulmonary disease (COPD) and remodeling of pulmonary tissue associated with chronic asthma. Here, we provide novel evidence that MMP-12 is expressed and secreted by normal human bronchial epithelial cell cultures (NHBECs) and reveal the regulation of MMP-12 gene expression by tumor necrosis factor-alpha (TNF-alpha), epidermal growth factor (EGF), and interferon gamma (IFN-gamma). Reverse transcription-polymerase chain reaction analyses demonstrated MMP-12 mRNA presence in unstimulated differentiated NHBEC cultures. Cultures stimulated independently with EGF or IFN-gamma failed to alter MMP-12 mRNA abundance, while TNF-alpha, TNF-alpha+EGF, or TNF-alpha+IFN-gamma elicited relatively early (6 h) peak increases in MMP-12 mRNA levels. Western blot analyses specifically indicated the presence of MMP-12 in differentiated NHBEC-conditioned media. These findings indicate that the bronchial epithelium may be an important source of elastolytic activity in COPD and tissue remodeling in chronic asthma.

  3. Endoscopic bronchial occlusion with silicone spigots under virtual bronchoscopic navigation.

    PubMed

    Hayama, Manabu; Sato, Shingo; Shiroyama, Takayuki; Nishida, Takuji; Nishihara, Takashi; Okamoto, Norio

    2016-07-01

    A 68-year-old woman with interstitial lung disease related to dermatomyositis and systemic scleroderma was admitted to our hospital with fever and dyspnoea. Although the fever was reduced after antibiotic therapy, a left pneumothorax suddenly occurred on day 27 after admission. A continuous air leak persisted despite chest drainage with three tubes and repeated pleurodesis. Chest computed tomography (CT) images showed a cavitary lesion with a pinhole in the left upper division, which was suspected to be the affected lesion with the air leak. Virtual bronchoscopic navigation images were constructed from CT data. Bronchial occlusion with Endobronchial Watanabe Spigots (EWSs) was performed on day 52. Two medium-sized EWSs were inserted into the left B1 + 2a and B1 + 2b, and the air leak stopped immediately. No procedure-related adverse events occurred. All three chest tubes were successfully removed by day 60. This case demonstrates that virtual bronchoscopic navigation can improve bronchial occlusion procedures using EWSs. PMID:27512560

  4. Optical low-coherence tomography of bronchial tissue

    NASA Astrophysics Data System (ADS)

    Bamford, Karl J.; James, Stephen W.; Barr, Hugh; Tatam, Ralph P.

    1999-12-01

    An optical fiber based low coherence interferometer for measuring the Epithelium thickness of Bronchial tissue, for early diagnosis of Carcinoma in situ, is presented. Previous simulation of laser induced fluorescence using an electromagnetic scattering model has extracted the relative permittivity value for the Submucosa and Epithelium layers indicating a difference of up to 0.14. The optical system presented here uses a low coherence source operating at 840 nm with a bandwidth of 30 nm, coupled into single mode optical fiber. A Fizeau cavity is formed between the fiber end and the tissue under investigation. A remote processing interferometer is used to monitor changes in permittivity between the different tissue layers. An initial experiment has demonstrated a sensitivity measurement of 40 dB for a permittivity difference measurement of 0.61. Preliminary results have shown that the discontinuity between the Bronchial Epithelium layer and its surrounding medium can be identified allowing the thickness of the Epithelium layer to be measured to an accuracy of 20 micrometers . Since interferometric noise contributions are only significant within the processing interferometer, the fiber optic Fizeau interferometer technique is a strong candidate for the development of an endoscope for the early detection of cancer within Gastrointestinal and Respiratory tracts.

  5. Gastro-bronchial fistula after laparoscopic nissen fundoplication.

    PubMed

    Faraj, Walid; Khalifeh, Mohamad; Soweid, Asaad; Habli, Nader; Selmo, Francesca; Priest, Oliver; Jamali, Faek R

    2007-10-01

    Gastro-bronchial fistula (GBF) is an unusual complication of Nissen fundoplication, particularly when performed via a transabdominal approach. The mechanism of such fistula is thought to be related to a previously untreated ulcer in the mucosa of the wall of the gastric wrap or to a subclinical injury to the gastric wall during the process of division of the short gastric vessels and gastric mobilization. This process is greatly aided by herniation of the wrap into the chest in the postoperative period, placing the stomach in intimate contact with the bronchial tree. The diagnosis of GBF is often difficult to establish and requires a high index of suspicion. Most investigative studies tend to be unrevealing. Historically, an upper gastrointestinal series was the recommended study of choice in the literature. Newer reports, however, highlight the value and importance of upper endoscopy as a diagnostic tool in this condition. The majority of GBF were reported in the era of transthoracic Nissen fundoplication. The incidence of this complication seems to have markedly decreased after the widespread adoption of the transabdominal approach to the treatment of GERD. We are reporting the second case in the literature of a GBF developing after a laparoscopic Nissen fundoplication in a 28-year-old male patient. This case report should serve to increase awareness of this uncommon complication that should be considered in the differential diagnosis of patients with recurrent pneumonia or refractory hemoptysis after major upper gastrointestinal surgical procedures.

  6. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    PubMed

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

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD. PMID:25497206

  7. Late Detection of Critical Congenital Heart Disease Among US Infants

    PubMed Central

    Peterson, Cora; Ailes, Elizabeth; Riehle-Colarusso, Tiffany; Oster, Matthew E.; Olney, Richard S.; Cassell, Cynthia H.; Fixler, David E.; Carmichael, Suzan L.; Shaw, Gary M.; Gilboa, Suzanne M.

    2015-01-01

    IMPORTANCE Critical congenital heart disease (CCHD) was added to the Recommended Uniform Screening Panel for Newborns in the United States in 2011. Many states have recently adopted or are considering requirements for universal CCHD screening through pulse oximetry in birth hospitals. Limited previous research is directly applicable to the question of how many US infants with CCHD might be identified through screening. OBJECTIVES To estimate the proportion of US infants with late detection of CCHD (>3 days after birth) based on existing clinical practice and to investigate factors associated with late detection. DESIGN, SETTING, AND PARTICIPANTS Descriptive and multivariable analysis. Data were obtained from a multisite population-based study of birth defects in the United States, the National Birth Defects Prevention Study (NBDPS). We included all live-born infants with estimated dates of delivery from January 1, 1998, through December 31, 2007, and nonsyndromic, clinically verified CCHD conditions potentially detectable through screening via pulse oximetry. MAIN OUTCOMES AND MEASURES The main outcome measure was the proportion of infants with late detection of CCHD through echocardiography or at autopsy under the assumption that universal screening at birth hospitals might reduce the number of such late diagnoses. Secondary outcome measures included prevalence ratios for associations between selected demographic and clinical factors and late detection of CCHD. RESULTS Of 3746 live-born infants with nonsyndromic CCHD, late detection occurred in 1106 (29.5% [95%CI, 28.1%–31.0%]), including 6 (0.2%) (0.1% –0.4%) first receiving a diagnosis at autopsy more than 3 days after birth. Late detection varied by CCHD type from 9 of 120 infants (7.5%[95%CI, 3.5%–13.8%]) with pulmonary atresia to 497 of 801 (62.0% [58.7%–65.4%]) with coarctation of the aorta. In multivariable analysis, late detection varied significantly by CCHD type and study site, and infants with

  8. Eosinophil cationic protein mRNA expression in children with bronchial asthma.

    PubMed

    Yu, H Y; Li, X Y; Cai, Z F; Li, L; Shi, X Z; Song, H X; Liu, X J

    2015-11-13

    Studies have shown that eosinophils are closely related to pathogenesis of bronchial asthma. Eosinophils release eosinophil cationic protein (ECP), which plays an important role in infection and allergic reactions. Serum ECP mRNA expression in children with bronchial asthma has not been adequately investigated. We analyzed serum ECP mRNA expression in 63 children with bronchial asthma and 21 healthy children by using reverse-transcriptase polymerase chain reaction to understand the role of ECP in children with bronchial asthma. The children with bronchial asthma were segregated into acute-phase and stable-phase groups, based on the severity of the illness. Serum ECP mRNA expression in children with bronchial asthma (0.375 ± 0.04) was significantly higher than that in healthy controls (0.20 ± 0.02; P < 0.05). Additionally, children in the acute-phase group showed higher ECP mRNA expression level (0.44 ± 0.06) than those in the stable-phase (0.31 ± 0.03) and healthy control groups (0.20 ± 0.02; P < 0.05), while the level in the stable-phase (0.31 ± 0.03) was markedly higher than that in the healthy control group (0.20 ± 0.02; P < 0.05). Detection of serum ECP mRNA expression level has possible applications in the diagnosis and treatment of children with bronchial asthma.

  9. Prevalence of bronchial hyperresponsiveness and asthma in a rural adult population.

    PubMed Central

    Woolcock, A J; Peat, J K; Salome, C M; Yan, K; Anderson, S D; Schoeffel, R E; McCowage, G; Killalea, T

    1987-01-01

    The prevalence of bronchial hyperresponsiveness in adult populations is not known. To document its prevalence and distribution and to determine the factors associated with it, a random sample of the adult population of Busselton, Western Australia, was studied. Spirometric function, bronchial responsiveness to histamine, and atopic responses to skin prick tests were measured. Respiratory symptoms were determined by questionnaire. Data were obtained from 916 subjects. Of these, 876 underwent a histamine inhalation test and bronchial hyperresponsiveness to histamine (defined as a dose of histamine provoking a 20% fall in FEV1 equal to or less than 3.9 mumol) was found in 10.5%. Another 40 subjects with poor lung function were tested with a bronchodilator and 12 were found to have bronchial hyperresponsiveness (defined as a greater than 15% increase in FEV1), making the total prevalence of bronchial hyperresponsiveness 11.4%. The prevalence of current asthma, defined as bronchial hyperresponsiveness plus symptoms consistent with asthma in the last 12 months, was 5.9%. The distribution of bronchial hyperresponsiveness in the studied population was continuous. There was a significant association between it and respiratory symptoms, atopy, smoking, and abnormal lung function (p less than 0.001 for all associations). There was no association with age, sex, or recent respiratory tract infection. Images PMID:3660290

  10. [Congenital bilateral vocal cord paralysis].

    PubMed

    Meyer, Lars Christian; Godballe, Christian

    2009-01-12

    Congenital bilateral vocal cord paralysis (CBVCP) is a rare but potentially life-threatening condition and awareness of the condition is necessary to ensure early diagnosis and treatment. This case describes a 25-month-old boy suffering from CBVCP. The main symptoms at birth were inspiratory stridor combined with a normal voice and feeding problems. The difficulties in achieving the right diagnosis are demonstrated, and the treatment so far, including tracheotomy and a feeding tube, is outlined. The importance of fibre optic laryngoscopy in both diagnosis and control is stressed. PMID:19174021

  11. CONGENITAL PSEUDARTHROSIS OF THE CLAVICLE

    PubMed Central

    de Figueiredo, Marina Juliana Pita Sassioto Silveira; dos Reis Braga, Susana; Akkari, Miguel; Prado, José Carlos Lopes; Santili, Cláudio

    2015-01-01

    Congenital pseudarthrosis of the clavicle (PCC) is a rare affection, that can be diagnosed at birth and represent a disturbance of union of the ossification centers. It's more common in girls and in the right side. This study objectives to proceed a revision about the subject, that was searched in online database of LILACS and MEDLINE. We found 56 articles till present data. Besides be a bit infrequent, the PCC must not be missed or even forgotten, especially as differential diagnosis with acute fracture of the clavicle at birth by trauma in the childbirth. The diagnostic is relatively easy and the treatment can be just observation or even surgical. PMID:27047839

  12. Congenital uterine anomalies affecting reproduction.

    PubMed

    Reichman, David E; Laufer, Marc R

    2010-04-01

    The following review seeks to summarise the current data regarding reproductive outcomes associated with congenital uterine anomalies. Such malformations originate from adverse embryologic events ranging from agenesis to lateral and vertical fusion defects. Associated renal anomalies are common both for the symmetric and asymmetric malformations. While fertility is minimally impacted upon by müllerian anomalies in most cases, such malformations have historically been associated with poor obstetric outcomes such as recurrent miscarriage, second trimester loss, preterm delivery, malpresentation and intrauterine foetal demise (IUFD). The following review delineates the existing literature regarding such outcomes and indicates therapies, where applicable, to optimise the care of such patients.

  13. Laboratory Diagnosis of Congenital Toxoplasmosis

    PubMed Central

    Pomares, Christelle

    2016-01-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented. PMID:27147724

  14. Laboratory Diagnosis of Congenital Toxoplasmosis.

    PubMed

    Pomares, Christelle; Montoya, Jose G

    2016-10-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented.

  15. Laboratory Diagnosis of Congenital Toxoplasmosis.

    PubMed

    Pomares, Christelle; Montoya, Jose G

    2016-10-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented. PMID:27147724

  16. The epidemiology of tracheo-oesophageal fistula and oesophageal atresia in Europe. EUROCAT Working Group.

    PubMed Central

    Depaepe, A; Dolk, H; Lechat, M F

    1993-01-01

    The total prevalence rate of tracheo-oesophageal fistula and oesophageal atresia in 15 EUROCAT registries covering 1,546,889 births during 1980-8 was 2.86 per 10,000. There was a decreasing prevalence rate over time (3.5 per 10,000 in 1980-2, 2.7 in 1983-5, 2.5 in 1986-8). Ten per cent of cases were associated with chromosomal anomalies and of the remaining cases, half were multiply malformed. Sixty two per cent of cases were males. There was a significantly increased risk for mothers of less than 20 years of age (odds ratio compared with mothers of 25-29 = 1.82, 95% confidence interval 1.23 to 2.67). There were no apparent epidemiological differences between isolated and multiply malformed cases in secular trend, sex ratio, or maternal age. Both isolated and multiply malformed cases tended to be premature and small for gestational age. There was variation between centres in survival of affected liveborn children up to 1 year of age. PMID:8333763

  17. Acquired unilateral pulmonary vein atresia in a 3-year-old boy.

    PubMed

    Firdouse, Mohammed; Agarwal, Arnav; Grosse-Wortmann, Lars; Mondal, Tapas K

    2015-03-01

    While unilateral pulmonary venous atresia (UPVA) most commonly presents as an extremely rare late embryological defect resulting in complete occlusion or absence of the PV pathway, it may also be an acquired pathology. We present a 3-year-old boy who presented with mild respiratory distress. Neonatal echocardiographic investigations revealed normal mediastinal anatomy and pulmonary vasculature with a bicuspid aortic valve. However, follow-up Doppler investigation revealed a pulmonary artery size difference with minimal forward flow and reverse flow during diastole. Absence of the left pulmonary veins and the presence of collaterals draining to the innominate vein confirmed the diagnosis of acquired UPVA. Our case represents the first case of acquired UPVA in conjunction with a normally functioning bicuspid aortic valve. The Doppler flow patterns discussed might be of significant interest to pediatricians, cardiologists and imaging specialists. These findings suggest that acquired UPVA should be considered in the differential diagnosis of such patients when radiographic and echocardiographic findings may rule out other more common diagnoses. While the management of such a condition remains unclear and conservative management was agreed upon for our patient, the vulnerability of such cases warrants timely diagnosis and routine monitoring.

  18. Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia

    PubMed Central

    Cofer, Zenobia C.; Cui, Shuang; EauClaire, Steven F.; Kim, Cecilia; Tobias, John W.; Hakonarson, Hakon; Loomes, Kathleen M.; Matthews, Randolph P.

    2016-01-01

    Biliary atresia (BA) is a progressive fibro-inflammatory disorder that is the leading indication for liver transplantation in children. Although there is evidence implicating genetic, infectious, environmental, and inflammatory causes, the etiology of BA remains unknown. We have recently reported that cholangiocytes from BA patients showed decreased DNA methylation relative to disease- and non-disease controls, supporting a potential role for DNA hypomethylation in BA etiopathogenesis. In the current study, we examined the methylation status of specific genes in human BA livers using methylation microarray technology. We found global DNA hypomethylation in BA samples as compared to disease- and non-disease controls at specific genetic loci. Hedgehog pathway members, SHH and GLI2, known to be upregulated in BA, were both hypomethylated, validating this approach as an investigative tool. Another region near the PDGFA locus was the most significantly hypomethylated in BA, suggesting potential aberrant expression. Validation assays confirmed increased transcriptional and protein expression of PDGFA in BA livers. We also show that PDGF-A protein is specifically localized to cholangiocytes in human liver samples. Injection of PDGF-AA protein dimer into zebrafish larvae caused biliary developmental and functional defects. In addition, activation of the Hedgehog pathway caused increased expression of PDGF-A in zebrafish larvae, providing a previously unrecognized link between PDGF and the Hedgehog pathway. Our findings implicate DNA hypomethylation as a specific factor in mediating overexpression of genes associated with BA and identify PDGF as a new candidate in BA pathogenesis. PMID:27010479

  19. Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia.

    PubMed

    Cofer, Zenobia C; Cui, Shuang; EauClaire, Steven F; Kim, Cecilia; Tobias, John W; Hakonarson, Hakon; Loomes, Kathleen M; Matthews, Randolph P

    2016-01-01

    Biliary atresia (BA) is a progressive fibro-inflammatory disorder that is the leading indication for liver transplantation in children. Although there is evidence implicating genetic, infectious, environmental, and inflammatory causes, the etiology of BA remains unknown. We have recently reported that cholangiocytes from BA patients showed decreased DNA methylation relative to disease- and non-disease controls, supporting a potential role for DNA hypomethylation in BA etiopathogenesis. In the current study, we examined the methylation status of specific genes in human BA livers using methylation microarray technology. We found global DNA hypomethylation in BA samples as compared to disease- and non-disease controls at specific genetic loci. Hedgehog pathway members, SHH and GLI2, known to be upregulated in BA, were both hypomethylated, validating this approach as an investigative tool. Another region near the PDGFA locus was the most significantly hypomethylated in BA, suggesting potential aberrant expression. Validation assays confirmed increased transcriptional and protein expression of PDGFA in BA livers. We also show that PDGF-A protein is specifically localized to cholangiocytes in human liver samples. Injection of PDGF-AA protein dimer into zebrafish larvae caused biliary developmental and functional defects. In addition, activation of the Hedgehog pathway caused increased expression of PDGF-A in zebrafish larvae, providing a previously unrecognized link between PDGF and the Hedgehog pathway. Our findings implicate DNA hypomethylation as a specific factor in mediating overexpression of genes associated with BA and identify PDGF as a new candidate in BA pathogenesis. PMID:27010479

  20. Thoracoscopic repair of esophageal atresia with tracheoesophageal fistula: Basics of technique and its nuances

    PubMed Central

    Kanojia, Ravi Prakash; Bhardwaj, Neerja; Dwivedi, Deepak; Kumar, Raj; Joshi, Saajan; Samujh, Ram; Rao, K. L. N.

    2016-01-01

    Aim: To review the technique of thoracoscopic repair of esophageal atresia with tracheoesophageal fistula (TREAT) and results reported in literature and with authors’ experience. Patients and Methods: The technique of TREAT was reviewed in detail with evaluation in patients treated at authors’ institution. The patients were selected based on selection criteria and were followed postoperatively. The results available in literature were also reviewed. Results: A total of 29 patients (8 females) were operated by TREAT. Mean age was 2.8 days (range 2-6 days). Mean weight was 2.6 kg (range 1.8-3.2 kg). There was a leak in four patients, and two patients had to be diverted. They are now awaiting definitive repair. Twenty-one patients have completed a mean follow-up of 1.5 years and are doing well except for two patients who had a stricture and underwent serial esophageal dilatations. The results from current literature are provided in tabulated form. Conclusions: TREAT is now a well-established procedure and currently is the preferred approach wherever feasible. The avoidance of thoracotomy is a major advantage to the newborn and is proven to benefit the recovery in the postoperative patient. The technique demonstrated, and the tweaks reported make the procedure easy and is helpful to beginners. The outcome is very much comparable to the open repair as proven by various series. Various parameters like leak rate, anastomotic stricture are the same. The outcome is comparable if you TREAT these babies well. PMID:27365905

  1. Global methylation, oxidative stress, and relative telomere length in biliary atresia patients.

    PubMed

    Udomsinprasert, Wanvisa; Kitkumthorn, Nakarin; Mutirangura, Apiwat; Chongsrisawat, Voranush; Poovorawan, Yong; Honsawek, Sittisak

    2016-01-01

    Alu and LINE-1 elements are retrotransposons with a ubiquitous presence in the human genome that can cause genomic instability, specifically relating to telomere length. Genotoxic agents may induce methylation of retrotransposons, in addition to oxidative DNA damage in the form of 8-hydroxy-2'-deoxyguanosine (8-OHdG). Methylation of retrotransposons induced by these agents may contribute to biliary atresia (BA) etiology. Here, we investigated correlations between global methylation, 8-OHdG, and relative telomere length, as well as reporting on Alu and LINE-1 hypomethylation in BA patients. Alu and LINE-1 hypomethylation were found to be associated with elevated risk of BA (OR = 4.07; 95% CI: 2.27-7.32; P < 0.0001 and OR = 3.51; 95% CI: 1.87-6.59; P < 0.0001, respectively). Furthermore, LINE-1 methylation was associated with liver stiffness in BA patients (β coefficient = -0.17; 95% CI: -0.24 to -0.10; P < 0.0001). Stratified analysis revealed negative correlations between Alu and LINE-1 methylation and 8-OHdG in BA patients (P < 0.0001). In contrast, positive relationships were identified between Alu and LINE-1 methylation and relative telomere length in BA patients (P < 0.0001). These findings suggest that retrotransposon hypomethylation is associated with plasma 8-OHdG and telomere length in BA patients. PMID:27243754

  2. Respiratory symptoms and bronchial reactivity: identification of a syndrome and its relation to asthma.

    PubMed Central

    Mortagy, A K; Howell, J B; Waters, W E

    1986-01-01

    Two postal questionnaire surveys were carried out among the adult population of Southampton aimed at clarifying the diagnostic criteria for asthma (study 1) and at testing the validity of symptoms so identified as diagnostic of bronchial hyper-reactivity (study 2). The questionnaires asked about respiratory symptoms and included three questions thought likely to disclose increased bronchial reactivity. Laboratory measurements on subsamples of respondents included spirometry and bronchial challenge with increasing doses of histamine till a concentration was reached provoking a fall of more than 20% (PC greater than 20) in forced expiratory volume in one second. In the first study no normal subject (that is, one who did not report shortness of breath or wheezing on the questionnaire) had a PC greater than 20 below 0.5 g/l. Of 51 subjects who reported shortness of breath or wheezing, or both, nine had a cluster of abnormalities consisting of one or more symptoms of bronchial irritability, nocturnal dyspnoea, and prolonged morning tightness together with PC greater than 20 values of 0.5 g/l or less. These symptoms in conjunction with a low PC greater than 20 were termed the bronchial irritability syndrome. In the second study bronchial challenge confirmed the close association of these symptoms with bronchial hyper-reactivity, all other subjects being less reactive to histamine. Only 27% of subjects with symptoms of the bronchial irritability syndrome had been diagnosed as asthmatic by their general practitioners. The bronchial irritability syndrome is a definable entity for epidemiological study and patient care. PMID:3092901

  3. Congenital insensitivity to pain with neuroparalytic keratitis.

    PubMed

    Biedner, B; Dagan, M; Gedalia, A; David, R

    1990-08-01

    Congenital insensitivity to pain is a well-defined entity in the group of sensory deficiency syndromes. To the best of our knowledge, unilateral neuroparalytic keratitis associated with congenital insensitivity to pain has not been reported. We report such a case to alert clinicians to this potentially blinding problem.

  4. Cardiac Arrhythmias In Congenital Heart Diseases

    PubMed Central

    Khairy, Paul; Balaji, Seshadri

    2009-01-01

    Arrhythmias figure prominently among the complications encountered in the varied and diverse population of patients with congenital heart disease, and are the leading cause of morbidity and mortality. The incidence generally increases as the patient ages, with multifactorial predisposing features that may include congenitally malformed or displaced conduction systems, altered hemodynamics, mechanical or hypoxic stress, and residual or postoperative sequelae. The safe and effective management of arrhythmias in congenital heart disease requires a thorough appreciation for conduction system variants, arrhythmia mechanisms, underlying anatomy, and associated physiology. We, therefore, begin this review by presenting the scope of the problem, outlining therapeutic options, and summarizing congenital heart disease-related conduction system anomalies associated with disorders of the sinus node and AV conduction system. Arrhythmias encountered in common forms of congenital heart disease are subsequently discussed. In so doing, we touch upon issues related to risk stratification for sudden death, implantable cardiac devices, catheter ablation, and adjuvant surgical therapy. PMID:19898654

  5. Optimum treatment of congenital cytomegalovirus infection.

    PubMed

    Leruez-Ville, Marianne; Ville, Yves

    2016-01-01

    Congenital cytomegalovirus infection affects 0.7% of live births and is the leading cause of congenital neurological handicaps of infectious origin. However, systematic screening of this infection has not been implemented in pregnancy or at birth in any country. This apparent paradox has been justified by the unavailability of an efficient vaccine and by the scarcity of data available on the treatment of congenital CMV. However, in the last decade interesting new data on the management of this congenital infection has emerged including new results on both neonatal and postnatal treatments. This review provides an update on the potential benefits of antiviral treatment and on passive immunisation both in the neonatal and the antenatal periods. These suggest a benefit to a proactive approach for neonatal and prenatal congenital infections. PMID:27043943

  6. Congenital toxoplasmosis in premature twins.

    PubMed

    Sibalić, D; Djurković-Djaković, O; Nikolić, R

    1986-01-01

    In the course of the study "Toxoplasmosis and Prematurity" 330 blood samples from twins were examined. Our findings in a series of 21 premature twins (maternal sera were also examined) are reported in this paper. Toxoplasma antibodies were detected by the Sabin-Feldman test and specific IgM antibodies by the Remington test. The classical form of congenital toxoplasmosis was present in five pairs of twins, while toxoplasmosis was subclinical at birth in both twins of three pairs. The pattern of disease varied very much in seven pairs of twins. In one twin of two pairs signs of disease were present, while his cotwin appeared unaffected but with strongly positive result of SFT. The most interesting observation, however, is that in three pairs, one twin was infected and had evident congenital toxoplasmosis, while his cotwin was not, as proven by the disappearance of the Toxoplasma antibodies. This finding undoubtedly indicates the importance of whether the placenta is intact or not for the transmission of the infection.

  7. Congenital dislocation of the knee.

    PubMed

    Ko, J Y; Shih, C H; Wenger, D R

    1999-01-01

    Between February 1988 and June 1995, 24 congenital dislocations of the knee joints (17 patients) were reduced with closed methods including immediate reduction, serial casting, or traction in patients from 10 min to 26 days old. At an average follow-up of 4 years and 10 months, an excellent or good result was achieved if there were no associated anomalies. Fair or poor results were the result of delayed treatment or associated musculoskeletal anomalies including arthrogryposis multiplex congenita or Larsen's syndrome. Routine check of the hip dislocation is suggested. Diagnosis with manual testing was difficult, and other methods such as radiography or sonography were suggested in combination to detect hip dysplasia. The dislocated knee should be reduced before treating the hip dislocation. Concomitant treatment of the congenital dislocation of the knee and the hip with Pavlik harness provided satisfactory results. When late, progressive, genu valgus deformity occurred because of global instability of the knee and asymmetric physeal growth, reconstruction of the medial structures of the knee and prolonged bracing provided good results. PMID:10088699

  8. Congenital Dislocation of the Hip

    PubMed Central

    Specht, Elmer E.

    1976-01-01

    Congenital dislocation or subluxation of the hip (congenital acetabular dysplasia) is a complete or partial displacement of the femoral head out of the acetabulum. The physical signs essential for diagnosis are age related. In newborns the tests for instability are the most sensitive. After the neonatal period, and until the age of walking, tightness of the adductor muscles is the most reliable sign. Early diagnosis is vital for successful treatment of this partially genetically determined condition. Various therapeutic measures, ranging from abduction splinting to open reduction and osteotomy, may be required. Following diagnosis in the first month of life, the average treatment time in one recent series was only 2.3 months from initiation of therapy to attainment of a normal hip. When the diagnosis was not made until 3 to 6 months of age, ten months of treatment was required to achieve the same outcome. When the diagnosis is not made, or the treatment is not begun until after the age of 6, a normal hip will probably not develop in any patient. ImagesFigure 1.Figure 2.Figure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9. PMID:1251603

  9. Congenital PCB poisoning: a reevaluation

    SciTech Connect

    Miller, R.W.

    1985-05-01

    A review of the literature reveals a need to clarify the pathologic physiology of congenital polychlorinated biphenyl (PCB) poisoning, which is characterized by intrauterine growth retardation, brown staining of the skin and mucous membranes as in Addison's disease, natal teeth, widely open fontanelles and sagittal suture and apparent overgrowth of the gingiva. The skull abnormalities may represent irregular calcification, with natal teeth appearing because the bone of the mandible is penetrated more easily than usual. Some fetuses were poisoned at the time the mothers ingested the oil; others were affected in the subsequent years from residual contamination in the mothers' bodies. The misadventure in Japan was repeated in Taiwan in 1979. The seven congenital cases in Taiwan reported thus far seem to differ from those in Japan. In Taiwan the noses were somewhat black, two of the infants did not have low birth weight and the osseous abnormalities of the skull and gingival hyperplasia were not observed. Systematic followup studies should be made in Taiwan of the children born within 2 years of maternal poisoning with PCBs. Special attention should be given to age at first dentition and skull-X-rays for spotty calcification, among other measures of physical, neurologic and intellectual development.

  10. [Efficiency of kinesi- and hydrokinesitherapy in children with bronchial asthma].

    PubMed

    Surovenko, T N; Iashchuk, A V; Iansons, T Ia; Ezhov, S N

    2003-01-01

    The authors review efficiency of various programs of kinesi and hydrokinesitherapy of children with atopic bronchial asthma (BA). Efficiency of the treatment was assessed by quality of life using the questionnaire by A. West, D. French "Childhood asthma questionnaire" (adapted for Russia by V. I. Petrov et al). Monitoring of the activity of allergic inflammation of the upper respiratory tracts was performed by examination of the nasal lavage fluid for nitric oxide metabolites, of the lower respiratory tracts--by the metabolites in the condensate of the expired air. It is shown that hydrokinesitherapy raises BA children's quality of life and declines inflammation activity leading to reduction of the number of BA exacerbations and hospitalizations. The above criteria of the treatment efficacy proved sensitive.

  11. Analysis of genomic instability in bronchial cells from uranium miners

    SciTech Connect

    Neft, R.E.; Belinsky, S.A.; Gilliland, F.D.; Lechner, J.F.

    1994-11-01

    Epidemiological studies show that underground uranium miners have a radon progeny exposure-dependent increased risk for developing lung cancer. The odds ratio for lung cancer in uranium miners increase for all cumulative exposures above 99 Working Level Months. In addition, there is a strong multiplicative effect of cigarette smoking on the development of lung cancer in uranium miners. The purpose of this investigation was to determine whether or not early genetic changes, as indicated by genomic instability, can be detected in bronchial cells from uranium miners. Investigations of this nature may serve as a means of discovering sub-clinical disease and could lead to earlier detection of lung cancer and a better prognosis for the patient.

  12. [Complementary therapies in the treatment of bronchial asthma].

    PubMed

    Filip-Ciubotaru, Florina; Pandele, G I; Foia, Liliana

    2005-01-01

    The clinical and paraclinical benefits of drugs that are not included in the standard therapy strategies, to patients suffering from bronchial asthma, are illustrated in a particularly rich specialty literature. Magnesium, furosemide, heparins, antioxidative drugs, nitric oxide donor substances have real qualities, that make them useful in the management of patients suffering from asthma. The tremendous amount of studies that inspired this work suggests that, for the asthmatic patients, there are other alternative therapies, which can be administrated as adjuvant medication to the classical medication. At the same time, unconventional treatments are a solution worth considering for treatment-resisting cases, for cases in which side reactions develop to the standard therapy, and a source of inspiration for future research.

  13. Bronchial thermoplasty: reappraising the evidence (or lack thereof).

    PubMed

    Iyer, Vivek N; Lim, Kaiser G

    2014-07-01

    Bronchial thermoplasty (BT) involves the application of radiofrequency energy to visible proximal airways to selectively ablate airway smooth muscle. BT is the first nonpharmacologic interventional therapy approved by the US Food and Drug Administration (FDA) for severe asthma. This approval was based on the results of the pivotal Asthma Intervention Research (AIR)-2 trial, which is the only randomized, double-blind, sham-controlled trial of BT. The primary end point of the AIR-2 trial was improvement in the Asthma Quality of Life Questionnaire (AQLQ). The results of the AIR-2 trial have generated enormous interest, controversy, and confusion regarding the true efficacy of BT for severe asthma. Current marketing of BT highlights its use for patients with "severe" asthma, which is interpreted by most practicing clinicians as meaning oral corticosteroid dependence, frequent exacerbations, or a significantly reduced FEV1 with a poor quality of life. Did the AIR-2 trial include patients with a low FEV1, oral steroid dependence, or frequent exacerbations? Did the trial show efficacy for any of the primary or secondary end points? The FDA approved the device based on the reduction in severe asthma exacerbations. However, were the rates of asthma exacerbations, ED visits, or hospitalizations truly different between the two groups, and was this type of analysis even justified given the original study design? This commentary is designed to specifically answer these questions and help the practicing clinician navigate the thermoplasty literature with confidence and clarity. We carefully dissect the design, conduct, and results of the AIR-2 trial and raise serious questions about the efficacy of bronchial thermoplasty.

  14. Adjuvant immunotherapy with BCG in squamous cell bronchial carcinoma.

    PubMed Central

    Jansen, H M; The, T H; Orie, N G

    1980-01-01

    Fifty-four patients with evidence of locally advanced primary squamous cell bronchial carcinoma (SCC), and three patients with adenocarcinoma (AC) had lung resection to remove all the visible tumour. After operation an randomly chosen group of 20 SCC patients received adjuvant BCG immunostimulation by scarifications (BCG-A). An additional group of 14 SCC patients, and three AC patients received initially intrapleural BCG treatment and subsequently scarifications (BCG-B). A control group of 20 SCC patients received no adjuvant treatment. Follow-up studies were done from three to 51 months. Immune reactivity was monitored in vivo with PPD skin tests in 33 treated and in 18 untreated patients. In both the BCG-treated SCC groups recurrence rates decreased statistically significant during follow-up (BCG-A; six to 51 months, p less than 0.001; BCG: 6-9 months, p less than 0.01 and nine to 24 months, p less than 0.001). However, no difference could be demonstrated between systemic and combined systemic and intrapleural treatment. The three BCG-treated AC patients all relapsed within nine months of follow-up. A pronounced increase in skin reactivity to PPD was seen six months after surgery in the BCG-treated patients (BCG-A, p less than 0.001; BCG-B, p less than 0.01), whereas the control patients remained anergic after surgery. This improved immune reactivity went in parallel with a more favourable outcome of the individual patients (BCG-A, p less than 0.02; BCG-B, p less than 0.05). It is concluded that adjuvant BCG immunotherapy used in strongly selected patients with minimal residual squamous cell bronchial carcinoma improves the prognosis. Intrapleural treatment did not improve the prognosis further. A favourable clinical outcome was mirrored by an increase in cellular immune reactivity. PMID:7466726

  15. Parasympathetic Stimuli on Bronchial and Cardiovascular Systems in Humans

    PubMed Central

    Zannin, Emanuela; Pellegrino, Riccardo; Di Toro, Alessandro; Antonelli, Andrea; Dellacà, Raffaele L.; Bernardi, Luciano

    2015-01-01

    Background It is not known whether parasympathetic outflow simultaneously acts on bronchial tone and cardiovascular system waxing and waning both systems in parallel, or, alternatively, whether the regulation is more dependent on local factors and therefore independent on each system. The aim of this study was to evaluate the simultaneous effect of different kinds of stimulations, all associated with parasympathetic activation, on bronchomotor tone and cardiovascular autonomic regulation. Methods Respiratory system resistance (Rrs, forced oscillation technique) and cardio-vascular activity (heart rate, oxygen saturation, tissue oxygenation index, blood pressure) were assessed in 13 volunteers at baseline and during a series of parasympathetic stimuli: O2 inhalation, stimulation of the carotid sinus baroreceptors by neck suction, slow breathing, and inhalation of methacholine. Results Pure cholinergic stimuli, like O2 inhalation and baroreceptors stimulation, caused an increase in Rrs and a reduction in heart rate and blood pressure. Slow breathing led to bradycardia and hypotension, without significant changes in Rrs. However slow breathing was associated with deep inhalations, and Rrs evaluated at the baseline lung volumes was significantly increased, suggesting that the large tidal volumes reversed the airways narrowing effect of parasympathetic activation. Finally inhaled methacholine caused marked airway narrowing, while the cardiovascular variables were unaffected, presumably because of the sympathetic activity triggered in response to hypoxemia. Conclusions All parasympathetic stimuli affected bronchial tone and moderately affected also the cardiovascular system. However the response differed depending on the nature of the stimulus. Slow breathing was associated with large tidal volumes that reversed the airways narrowing effect of parasympathetic activation. PMID:26046774

  16. Functional Metagenomics of the Bronchial Microbiome in COPD

    PubMed Central

    Millares, Laura; Pérez-Brocal, Vicente; Ferrari, Rafaela; Gallego, Miguel; Pomares, Xavier; García-Núñez, Marian; Montón, Concepción; Capilla, Silvia

    2015-01-01

    The course of chronic obstructive pulmonary disease (COPD) is frequently aggravated by exacerbations, and changes in the composition and activity of the microbiome may be implicated in their appearance. The aim of this study was to analyse the composition and the gene content of the microbial community in bronchial secretions of COPD patients in both stability and exacerbation. Taxonomic data were obtained by 16S rRNA gene amplification and pyrosequencing, and metabolic information through shotgun metagenomics, using the Metagenomics RAST server (MG-RAST), and the PICRUSt (Phylogenetic Investigation of Communities by Reconstruction of Unobserved States) programme, which predict metagenomes from 16S data. Eight severe COPD patients provided good quality sputum samples, and no significant differences in the relative abundance of any phyla and genera were found between stability and exacerbation. Bacterial biodiversity (Chao1 and Shannon indexes) did not show statistical differences and beta-diversity analysis (Bray-Curtis dissimilarity index) showed a similar microbial composition in the two clinical situations. Four functional categories showed statistically significant differences with MG-RAST at KEGG level 2: in exacerbation, Cell growth and Death and Transport and Catabolism decreased in abundance [1.6 (0.2–2.3) vs 3.6 (3.3–6.9), p = 0.012; and 1.8 (0–3.3) vs 3.6 (1.8–5.1), p = 0.025 respectively], while Cancer and Carbohydrate Metabolism increased [0.8 (0–1.5) vs 0 (0–0.5), p = 0.043; and 7 (6.4–9) vs 5.9 (6.3–6.1), p = 0.012 respectively]. In conclusion, the bronchial microbiome as a whole is not significantly modified when exacerbation symptoms appear in severe COPD patients, but its functional metabolic capabilities show significant changes in several pathways. PMID:26632844

  17. Functional Metagenomics of the Bronchial Microbiome in COPD.

    PubMed

    Millares, Laura; Pérez-Brocal, Vicente; Ferrari, Rafaela; Gallego, Miguel; Pomares, Xavier; García-Núñez, Marian; Montón, Concepción; Capilla, Silvia; Monsó, Eduard; Moya, Andrés

    2015-01-01

    The course of chronic obstructive pulmonary disease (COPD) is frequently aggravated by exacerbations, and changes in the composition and activity of the microbiome may be implicated in their appearance. The aim of this study was to analyse the composition and the gene content of the microbial community in bronchial secretions of COPD patients in both stability and exacerbation. Taxonomic data were obtained by 16S rRNA gene amplification and pyrosequencing, and metabolic information through shotgun metagenomics, using the Metagenomics RAST server (MG-RAST), and the PICRUSt (Phylogenetic Investigation of Communities by Reconstruction of Unobserved States) programme, which predict metagenomes from 16S data. Eight severe COPD patients provided good quality sputum samples, and no significant differences in the relative abundance of any phyla and genera were found between stability and exacerbation. Bacterial biodiversity (Chao1 and Shannon indexes) did not show statistical differences and beta-diversity analysis (Bray-Curtis dissimilarity index) showed a similar microbial composition in the two clinical situations. Four functional categories showed statistically significant differences with MG-RAST at KEGG level 2: in exacerbation, Cell growth and Death and Transport and Catabolism decreased in abundance [1.6 (0.2-2.3) vs 3.6 (3.3-6.9), p = 0.012; and 1.8 (0-3.3) vs 3.6 (1.8-5.1), p = 0.025 respectively], while Cancer and Carbohydrate Metabolism increased [0.8 (0-1.5) vs 0 (0-0.5), p = 0.043; and 7 (6.4-9) vs 5.9 (6.3-6.1), p = 0.012 respectively]. In conclusion, the bronchial microbiome as a whole is not significantly modified when exacerbation symptoms appear in severe COPD patients, but its functional metabolic capabilities show significant changes in several pathways.

  18. Prevalence of bronchial hyperresponsiveness in highly trained athletes.

    PubMed

    Weiler, J M; Metzger, W J; Donnelly, A L; Crowley, E T; Sharath, M D

    1986-07-01

    Previous studies indicated that the prevalence of symptomatic asthma is about 4 to 7 percent. No similar studies exist to suggest the prevalence of asthma in highly trained competitive athletes, since asthma is thought to be an uncommon disease in this population. We became concerned, therefore, when a large number of football players developed symptoms consistent with asthma during preparation in California for the Rose Bowl in December 1981. We studied the team and found 12 percent of the football players admitted to a history of asthma, whereas none of the members of the university basketball team and 7 percent of a group of sophomore medical students and physician assistant students gave a history of asthma. Furthermore, 19 percent of the football players indicated that at some time they had chest tightness, cough, wheezing, or prolonged shortness of breath after exercise; 12 percent of the basketball players and 37 percent of the students indicated such a history. We examined each of these three groups for non-specific bronchial hyperresponsiveness to inhaled methacholine using a modified methacholine bronchoprovocation (MBP) challenge and found that 76 of 151 (50 percent) football players tested had positive tests; 76 percent of those with symptoms had positive results of inhalation tests and 47 percent of those with minimal or no symptoms had positive test results. In addition, four of 16 (25 percent) basketball players and 69 of 167 (41 percent) students had positive MBP tests. These studies indicate that bronchial hyperresponsiveness to inhaled methacholine is much more common in these young adults than has previously been suspected.

  19. Di(2-ethylhexyl) phthalate inhibits antral follicle growth, induces atresia, and inhibits steroid hormone production in cultured mouse antral follicles

    PubMed Central

    Hannon, Patrick R.; Brannick, Katherine E.; Wang, Wei; Gupta, Rupesh K.; Flaws, Jodi A.

    2015-01-01

    Di(2-ethylhexyl) phthalate (DEHP) is a ubiquitous environmental toxicant found in consumer products that causes ovarian toxicity. Antral follicles are the functional ovarian units and must undergo growth, survival from atresia, and proper regulation of steroidogenesis to ovulate and produce hormones. Previous studies have determined that DEHP inhibits antral follicle growth and decreases estradiol levels in vitro; however, the mechanism by which DEHP elicits these effects is unknown. The present study tested the hypothesis that DEHP directly alters regulators of the cell cycle, apoptosis, and steroidogenesis to inhibit antral follicle functionality. Antral follicles from adult CD-1 mice were cultured with vehicle control or DEHP (1-100μg/ml) for 24-96 hr to establish the temporal effects of DEHP on the follicle. Following 24-96 hr of culture, antral follicles were subjected to gene expression analysis, and media were subjected to measurements of hormone levels. DEHP increased the mRNA levels of cyclin D2, cyclin dependent kinase 4, cyclin E1, cyclin A2, and cyclin B1 and decreased the levels of cyclin-dependent kinase inhibitor 1A prior to growth inhibition. Additionally, DEHP increased the mRNA levels of BCL2-associated agonist of cell death, BCL2-associated X protein, BCL2-related ovarian killer protein, B-cell leukemia/lymphoma 2, and Bcl2-like 10, leading to an increase in atresia. Further, DEHP decreased the levels of progesterone, androstenedione, and testosterone prior to the decrease in estradiol levels, with decreased mRNA levels of side-chain cleavage, 17α-hydorxylase-17,20-desmolase, 17β-hydroxysteroid dehydrogenase, and aromatase. Collectively, DEHP directly alters antral follicle functionality by inhibiting growth, inducing atresia, and inhibiting steroidogenesis. PMID:25701202

  20. Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.

    PubMed

    Concepcion, Jennifer P; Reh, Christina S; Daniels, Mark; Liu, Xiaoming; Paz, Veronica P; Ye, Honggang; Highland, Heather M; Hanis, Craig L; Greeley, Siri Atma W

    2014-02-01

    Recently, bi-allelic mutations in the transcription factor RFX6 were described as the cause of a rare condition characterized by neonatal diabetes with pancreatic and biliary hypoplasia and duodenal/jejunal atresia. A male infant developed severe hyperglycemia (446 mg/dL) within 24 h of birth. Acute abdominal concerns by day five necessitated exploratory surgery that revealed duodenal atresia, gallbladder agenesis, annular pancreas and intestinal malrotation. He also exhibited chronic diarrhea and feeding intolerance, cholestatic jaundice, and subsequent liver failure. He died of sepsis at four months old while awaiting liver transplantation. The phenotype of neonatal diabetes with intestinal atresia and biliary agenesis clearly pointed to RFX6 as the causative gene; indeed, whole exome sequencing revealed a novel homozygous RFX6 mutation c.779A>C; p.Lys260Thr (K260T). This missense mutation also changes the consensus 5' splice donor site before intron 7 and is thus predicted to cause disruption in splicing. Both parents, who were not known to be related, were heterozygous carriers. Targeted genetic testing based on consideration of phenotypic features may reveal a cause among the many genes now associated with heterogeneous forms of monogenic neonatal diabetes. Our study demonstrates the feasibility of using modern sequencing technology to identify one such rare cause. Continued research is needed to determine the possible cost-effectiveness of this approach, especially when clear phenotypic clues are absent. Further study of patients with RFX6 mutations should clarify its role in pancreatic, intestinal and enteroendocrine cellular development and explain features such as the diarrhea exhibited in our case.