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Sample records for congenital bronchial atresia

  1. Congenital bronchial atresia: diagnosis and treatment.

    PubMed

    Wang, Yuqi; Dai, Weimin; Sun, Yu'e; Chu, Xiangyang; Yang, Bo; Zhao, Ming

    2012-01-01

    This study aimed to retrospectively summarize the clinical signs, diagnosis, and treatment of congenital bronchial atresia (CBA) in 12 patients. Chest radiographs and computed tomographic (CT) images of 12 patients with CBA treated in the Chinese People's Liberation Army General Hospital were reviewed. Analysis of chest radiographs revealed ten patients had hilar mass-like shadows and two had pneumonia-like shadows; most patients (n = 8) showed hyperlucency of the peripheral lung fields. CT revealed a mucocele in all the patients (n = 12); the mucoceles were round in four patients and club-like in eight. In 80% of the cases (n = 10), associated anomalies, including occlusions of the bronchus central to the mucocele, emphysematous changes of the peripheral lung fields, bronchogenic cyst, and anomalous branching of the bronchial tree and vascular structure were observed. CBA was detected in the right lobe in eight patients and the left lobe in the remaining four. No surgical intervention was performed in 5 CBA patients and the remaining 7 patients underwent surgery, including lobectomy in 5 patients and local resection in 2 patients. Among these 7 patients, 3 had a preoperative diagnosis of malignant disease, and the remaining 4 had severe clinical symptoms that could not be effectively treated by medicines. All patients were followed up, and none experienced obvious discomfort. CBA is a relatively rare and benign malformation disease. Chest CT is the procedure of choice for diagnosis. The presence of a bronchocele and surrounding emphysematous changes are typical radiologic findings in CBA. Surgery should be reserved only for patients with serious complications secondary to the atretic bronchus. PMID:22408569

  2. Congenital Bronchial Atresia: Diagnosis and Treatment

    PubMed Central

    Wang, Yuqi; Dai, Weimin; Sun, Yu'e; Chu, Xiangyang; Yang, Bo; Zhao, Ming

    2012-01-01

    This study aimed to retrospectively summarize the clinical signs, diagnosis, and treatment of congenital bronchial atresia (CBA) in 12 patients. Chest radiographs and computed tomographic (CT) images of 12 patients with CBA treated in the Chinese People's Liberation Army General Hospital were reviewed. Analysis of chest radiographs revealed ten patients had hilar mass-like shadows and two had pneumonia-like shadows; most patients (n = 8) showed hyperlucency of the peripheral lung fields. CT revealed a mucocele in all the patients (n = 12); the mucoceles were round in four patients and club-like in eight. In 80% of the cases (n = 10), associated anomalies, including occlusions of the bronchus central to the mucocele, emphysematous changes of the peripheral lung fields, bronchogenic cyst, and anomalous branching of the bronchial tree and vascular structure were observed. CBA was detected in the right lobe in eight patients and the left lobe in the remaining four. No surgical intervention was performed in 5 CBA patients and the remaining 7 patients underwent surgery, including lobectomy in 5 patients and local resection in 2 patients. Among these 7 patients, 3 had a preoperative diagnosis of malignant disease, and the remaining 4 had severe clinical symptoms that could not be effectively treated by medicines. All patients were followed up, and none experienced obvious discomfort. CBA is a relatively rare and benign malformation disease. Chest CT is the procedure of choice for diagnosis. The presence of a bronchocele and surrounding emphysematous changes are typical radiologic findings in CBA. Surgery should be reserved only for patients with serious complications secondary to the atretic bronchus. PMID:22408569

  3. [Congenital Esophageal Atresia].

    PubMed

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported. PMID:26197921

  4. Congenital intestinal atresia.

    PubMed

    Davenport, M; Bianchi, A

    1990-09-01

    Surgery for infants with intestinal atresia has evolved along with the development of specialized neonatal surgical units. This once fatal condition now carries a better than 85% chance of survival and an excellent long-term prognosis. Recent advances in bowel preservation techniques have reduced morbidity and improved gut function in both the long and the short term. PMID:2257399

  5. Chronic Pulmonary Aspergillosis Complicating Bronchial Atresia

    PubMed Central

    Al-Qadi, Mazen O.; Reddy, Dereddi Raja S.; Larsen, Brandon T.; Iyer, Vivek N.

    2014-01-01

    Bronchial atresia is a rare pulmonary developmental anomaly characterized by the presence of a focal obliteration of a segmental or lobar bronchial lumen. The lung distal to the atretic bronchus is typically emphysematous along with the presence of mucus filled ectatic bronchi (mucoceles). BA is usually asymptomatic but pulmonary infections can rarely develop in the emphysematous lung distal to the atretic bronchus. We present a unique case of chronic pulmonary aspergillosis (CPA) in a patient with BA with no evidence of immune dysfunction. The patient was treated initially with voriconazole and subsequently underwent surgical excision of the involved area. On follow-up, she has done extremely well with no evidence for recurrence. In summary, we describe the first case of chronic pulmonary aspergillosis in an immunocompetent patient with bronchial atresia. PMID:25587281

  6. Congenital Atresia of Wharton's Duct.

    PubMed

    Hseu, Anne; Anne, Premchand; Anne, Samantha

    2016-02-01

    This is a case report of a three-month-old male who presented to clinic with a cystic lesion under the tongue. On clinical examination, a cystic lesion was observed in the, floor-of-mouth. The patient was referred to Paediatric Otorhinolaryngology service for further management. The differential diagnoses for floor-of-mouth lesions should be reviewed with primary focus on the Wharton's duct atresia and its management. It is crucial to recognize submandibular duct atresia in the primary Paediatric clinic in order to expedite management of lesion before complications arise including infection, enlargement of cyst, and feeding and breathing difficulties. PMID:27042492

  7. Bone conduction hearing in congenital aural atresia.

    PubMed

    Zhang, Lichun; Gao, Na; Yin, Yanbo; Yang, Lin; Xie, Youzhou; Chen, Ying; Dai, Peidong; Zhang, Tianyu

    2016-07-01

    Previous researches focusing on BC hearing mechanisms proved that the two routes, (1) EAC sound radiation and (2) inertial of ossicular chain, partially contribute to normal BC hearing. Therefore, the BC hearing for those patients with congenital aural atresia should partially decrease theoretically due to their abnormal anatomy. However, there are not many studies which mention these patients' BC hearing up till now. The objective of this study is to investigate congenital aural atresia patient's BC hearing by analysis of pre-surgical audiogram and to study their potential BC hearing mechanisms using animal modeling and their ABR measurements. The study methoed involves analyzing 75 patients' pre-operative audiogram. Then we produced an animal model by surgery to measure their BC hearing threshold changes. Clinical data showed that those patients had some BC hearing loss; and there were 25 cases (25/75, 33.3 %) which present with typical Carhart's Notch. The animal experiments proved that inertia of ossicular chain contribute to partial BC hearing, which demonstrated that the inertia produced more affects on high frequencies by comparing with low frequencies. The patients with congenital aural atresia present BC hearing loss, which could be mainly ascribed to the absence of inertia of ossicular chain. PMID:26205153

  8. 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, ...

  9. Epidermolysis bullosa and congenital pyloric atresia

    PubMed Central

    Mithwani, Anwar Adil; Hashmi, Asif; Adil, Salman

    2013-01-01

    The association between epidermolysis bullosa (EB) and pyloric atresia (PA) is rare but well documented. Herein, we report a case of EB associated with congenital PA. A female baby, weighing 1480 g, was born vaginally to a 31-year-old gravida 7 lady at 33 weeks of gestation. Polyhydramnios was detected on antenatal assessment. The parents were non-consanguineous Saudis with no family history of significant illness. At birth, well-demarcated areas of peeled skin were present over knees, left leg and periumbilical region. Systemic examination revealed no other abnormality. On second day, the patient developed recurrent vomiting and abdominal distension. An abdominal X-ray revealed a single gastric gas bubble suggesting pyloric obstruction. Following gastroduodenostomy, the baby developed severe sepsis with multiorgan dysfunction and expired on 25th day of life. Skin biopsy showed cleavage within lamina lucida. PMID:24068383

  10. 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

  11. 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.

  12. Congenital Atresia of Wharton’s Duct

    PubMed Central

    Hseu, Anne; Anne, Premchand

    2016-01-01

    This is a case report of a three-month-old male who presented to clinic with a cystic lesion under the tongue. On clinical examination, a cystic lesion was observed in the, floor-of-mouth. The patient was referred to Paediatric Otorhinolaryngology service for further management. The differential diagnoses for floor-of-mouth lesions should be reviewed with primary focus on the Wharton’s duct atresia and its management. It is crucial to recognize submandibular duct atresia in the primary Paediatric clinic in order to expedite management of lesion before complications arise including infection, enlargement of cyst, and feeding and breathing difficulties. PMID:27042492

  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. Accelerating virtual surgery simulation for congenital aural atresia

    NASA Astrophysics Data System (ADS)

    Li, Bin; Wang, Zigang; Smouha, Eric; Chen, Dongqing; Liang, Zhengrong

    2004-05-01

    In this paper, we proposed a new efficient implementation for simulation of surgery planning for congenital aural atresia. We first applied a 2-level image segmentation schema to classify the inner ear structures. Based on it, several 3D texture volumes were generated and sent to graphical pipeline on a PC platform. By exploiting the texturingmapping capability on the PC graphics/video board, a 3D image was created with high quality showing the accurate spatial relationships of the complex surgical anatomy of congenitally atretic ears. Furthermore, we exploited the graphics hardware-supported per-fragment function to perform the geometric clipping on 3D volume data to interactively simulate the procedure of surgical operation. The result was very encouraging.

  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.

  16. 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

  17. 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

  18. Tricuspid atresia

    MedlinePlus

    ... of heart disease that is present at birth ( congenital heart disease ), in which the tricuspid heart valve is missing ... Tricuspid atresia is an uncommon form of congenital heart disease that ... with this condition will also have other heart problems. ...

  19. [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

  20. Rare congenital absence of tail (anury) and anus (atresia ani) in male camel (Camelus dromedarius) calf

    PubMed Central

    Anwar, S.; Purohit, G.N.

    2012-01-01

    A one-day old male camel calf was presented to the Al-Qattara Veterinary Hospital with complaints of abdominal straining and lack of defecation. On examination it was found that the calf had no tail, the posterior sacral margin was blunt and the anal opening was absent. The case was diagnosed as congenital anury with atresia ani. The animal was sedated with 0.1 mg/kg of xylazine administered intramuscularly and under local infiltration with 2% lidocaine a circular incision was made at the anal area to create an anal opening. The animal passed plenty of meconium. The cut edges were sutured with horizontal mattress sutures. The animal was administered penicillin and streptomycin for 5 days and had an uneventful recovery. It is reported that congenital anury rarely occurs in one humped camel and accompanied atresia ani can be surgically treated. PMID:26623295

  1. Clinical characteristics of congenital cervical atresia based on anatomy and ultrasound: a retrospective study of 32 cases

    PubMed Central

    2014-01-01

    Background To explore the clinical characteristics of congenital cervical atresia. Methods This retrospective analysis included 32 cases of congenital cervical atresia treated from March 1984 to September 2010. The anatomic location, ultrasonic features, surgical treatments, and outcomes were recorded. Results Based on clinical characteristics observed during preoperative ultrasound and intraoperative exploration, congenital cervical atresia was divided into four types. Type I (n?=?22/32, 68.8%) is incomplete cervical atresia. Type II (n?=?5/32, 15.6%) defines a short and solid cervix with a round end; the structure lacked uterosacral and cardinal ligament attachments to the lower uterine body. Type III (n?=?2/32, 6.3%) is complete cervical atresia, in which the lowest region of the uterus exhibited a long and solid cervix. Type IV (n?=?3/32, 9.4%) defines the absence of a uterine isthmus, in which no internal os was detected, and a blind lumen was found under the uterus. Conclusions Observations of clinical characteristics of congenital cervical atresia based on the anatomy and ultrasound may inform diagnosis and treatment strategy. PMID:24555664

  2. Congenital pouch colon in a girl associated with bilateral atresia of cervix uteri and uterus didelphys.

    PubMed

    Chadha, Rajiv; Puri, Manju; Saxena, Rahul; Agarwala, Surendrakumar; Puri, Archana; Choudhury, Subhasis Roy

    2013-04-01

    This report describes a girl with congenital pouch colon (CPC), uterus didelphys with septate vagina, and a cloacal anomaly. The girl underwent cloacal reconstruction at the age of 15 months. Subsequently, at puberty, the child had primary amenorrhea with severe cyclic abdominal pain due to endometriosis of both the uteruses and adnexal cysts with hematometra and hematosalpinx. Laparotomy with removal of both uteri and the left fallopian tube was performed. Both uteri had atresia of the cervix uteri. This report emphasizes the need for comprehensive evaluation and a long-term management strategy for associated gynecologic anomalies in girls with CPC, especially with regard to patency of the outflow tract. PMID:23798813

  3. Congenital pouch colon in a girl associated with bilateral atresia of cervix uteri and uterus didelphys

    PubMed Central

    Chadha, Rajiv; Puri, Manju; Saxena, Rahul; Agarwala, Surendrakumar; Puri, Archana; Choudhury, Subhasis Roy

    2013-01-01

    This report describes a girl with congenital pouch colon (CPC), uterus didelphys with septate vagina, and a cloacal anomaly. The girl underwent cloacal reconstruction at the age of 15 months. Subsequently, at puberty, the child had primary amenorrhea with severe cyclic abdominal pain due to endometriosis of both the uteruses and adnexal cysts with hematometra and hematosalpinx. Laparotomy with removal of both uteri and the left fallopian tube was performed. Both uteri had atresia of the cervix uteri. This report emphasizes the need for comprehensive evaluation and a long-term management strategy for associated gynecologic anomalies in girls with CPC, especially with regard to patency of the outflow tract. PMID:23798813

  4. Respiratory Care of Infants and Children with Congenital Tracheo-Oesophageal Fistula and Oesophageal Atresia.

    PubMed

    Sadreameli, Sara C; McGrath-Morrow, Sharon A

    2016-01-01

    Despite acute respiratory and chronic respiratory and gastro-intestinal complications, most infants and children with a history of oesophageal atresia / trachea-oesophageal fistula [OA/TOF] can expect to live a fairly normal life. Close multidisciplinary medical and surgical follow-up can identify important co-morbidities whose treatment can improve symptoms and optimize pulmonary and nutritional outcomes. This article will discuss the aetiology, classification, diagnosis and treatment of congenital TOF, with an emphasis on post-surgical respiratory management, recognition of early and late onset complications, and long-term clinical outcomes. PMID:25800226

  5. 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

  6. 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

  7. Pulmonary Atresia

    MedlinePlus

    ... to repair the defect. Return to main topic: Congenital Heart Disease See on other sites: MedlinePlus https://medlineplus.gov/ency/article/001091.htm Pulmonary atresia American Heart Association www. ...

  8. 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

  9. Bronchial compression due to stent placement in pulmonary artery in a child with congenital heart disease.

    PubMed

    Núñez, Mónica; Beleña, José; Cabeza, Raúl; Beltrán, María

    2005-12-01

    Congenital heart disease, such as transposition of the great vessels (TGV), requires surgical procedures which can lead to important complications. We report on a case of bronchial obstruction following placement of a pulmonary artery stent in a 4-year-old boy who had undergone a Rastelli procedure to correct TGV, ventricular septal defect and pulmonary stenosis. There are many complications that can arise as a consequence of intravascular stents in heart surgery, as well as many causes of bronchial compression. However we have not found any report which describes bronchial compression as a direct consequence of endovascular stent. PMID:16324040

  10. Hearing stimulation of the pediatric patient with congenital aural atresia: surgical and audiological evaluation of 38 patients.

    PubMed

    Kuşcu, Oğuz; Günaydın, Rıza Önder; Bajin, Münir Demir; Sözen, Tevfik; Ünal, Ömer Faruk; Akyol, Umut

    2014-01-01

    The aim of this work is to stress the importance of and discuss the timing and options for the treatment of congenital aural atresia (CAA), including non-surgical alternative treatment modalities and amplification, and to report the audiological and surgical results of a series of patients. Thirty-eight children with CAA were evaluated with regard to hearing and anatomical anomalies accompanying CAA: the state of the ossicles and the facial nerve, postoperative complications and audiological results. The ages of the patients ranged between 4 and 18 years, with a mean of 10 years. All underwent surgical treatment; 32 had unilateral atresia, while 6 had bilateral atresia. The mean follow-up duration was 7 months. The facial canal was dehiscent in 36.8% of cases. In 70.2% cases, the malleus and incus were present as an ossicular mass, fixed and attached to the atretic bone. The stapes was normal in 97.3% of the patients; in 2.7% the suprastructure was deformed. The success rate, defined as an air-bone gap of 20 dB or less, was 63.1% in this series of patients. If atresia is bilateral, very early hearing stimulation to prevent the maldevelopment of children's speech and cognitive skills is of the utmost importance. In unilateral cases, surgery may be postponed until early adulthood, when the patient is able to make his/her own decision and cooperate in the treatment and postoperative aspects. PMID:25818960

  11. Rare De Novo Copy Number Variants in Patients with Congenital Pulmonary Atresia

    PubMed Central

    Xie, Li; Chen, Jin-Lan; Zhang, Wei-Zhi; Wang, Shou-Zheng; Zhao, Tian-Li; Huang, Can; Wang, Jian; Yang, Jin-Fu; Yang, Yi-Feng; Tan, Zhi-Ping

    2014-01-01

    Background Ongoing studies using genomic microarrays and next-generation sequencing have demonstrated that the genetic contributions to cardiovascular diseases have been significantly ignored in the past. The aim of this study was to identify rare copy number variants in individuals with congenital pulmonary atresia (PA). Methods and Results Based on the hypothesis that rare structural variants encompassing key genes play an important role in heart development in PA patients, we performed high-resolution genome-wide microarrays for copy number variations (CNVs) in 82 PA patient-parent trios and 189 controls with an Illumina SNP array platform. CNVs were identified in 17/82 patients (20.7%), and eight of these CNVs (9.8%) are considered potentially pathogenic. Five de novo CNVs occurred at two known congenital heart disease (CHD) loci (16p13.1 and 22q11.2). Two de novo CNVs that may affect folate and vitamin B12 metabolism were identified for the first time. A de novo 1-Mb deletion at 17p13.2 may represent a rare genomic disorder that involves mild intellectual disability and associated facial features. Conclusions Rare CNVs contribute to the pathogenesis of PA (9.8%), suggesting that the causes of PA are heterogeneous and pleiotropic. Together with previous data from animal models, our results might help identify a link between CHD and folate-mediated one-carbon metabolism (FOCM). With the accumulation of high-resolution SNP array data, these previously undescribed rare CNVs may help reveal critical gene(s) in CHD and may provide novel insights about CHD pathogenesis. PMID:24826987

  12. 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.

  13. Prognostic factors for long-term hearing preservation after canal-tympanoplasty for congenital aural atresia.

    PubMed

    Sakamoto, Takashi; Kikuta, Shu; Kikkawa, Yayoi S; Kinoshita, Makoto; Saito, Yuki; Kobayashi, Kenya; Kakigi, Akinobu; Suzuki, Mitsuya; Yamasoba, Tatsuya

    2015-11-01

    The present study aimed to determine favorable prognostic factors for long-term postoperative hearing outcome after canal-tympanoplasty for congenital aural atresia (CAA). We retrospectively reviewed pre and postoperative hearing results and image findings of 51 ears with CAA performed by canal-tympanoplasty for primary repair. Averages of the postoperative air and bone-conduction thresholds, and the air-bone gap (ABG) were calculated from the last pure-tone audiometry. Follow-up duration ranged from 16 to 139 months. A successful hearing result was defined as a postoperative ABG of ≤15 dB, or a postoperative pure-tone average of ≤30 dB. The influence of the following factors on the success of surgery was assessed by multivariate logistic regression analysis: total Jahrsdoerfer grading system score, age at surgery, and dimensions of middle ear including incudostapedial joint angulation, mesotympanic height, mesotympanic width, mesotympanic depth, mesotympanic area, mesotympanic volume, reconstructable external auditory canal (EAC) diameter, and reconstructable EAC height. Successful hearing outcomes were achieved in 24 of 51 ears (47.1%). A multivariate logistic regression analysis showed that an EAC area >72.3 mm(2) was the most significant favorable predictive factor (P = 0.006), followed by mesotympanic depth >5.5 mm (P = 0.013), mesotympanic height >4.6 mm (P = 0.016), and EAC diameter >9.5 mm (P = 0.029). In conclusion, the size of the reconstructable EAC and mesotympanum is important for predicting long-term favorable hearing outcome following canal-tympanoplasty for CAA. PMID:25323150

  14. 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

  15. Management of congenital choanal atresia (CCA) after multiple failures: A Case Report.

    PubMed

    Asma, A; Roslenda, A R; Suraya, A; Saraiza, A B; Aini, A A

    2013-01-01

    Nasal obstruction in neonates is a potentially fatal condition because neonates are obligatory nasal breathers. Bilateral choanal atresia is therefore a neonatal emergency. Several approaches for corrections of choanal atresia are available including the helium laser: YAG. A 5-year-old Chinese girl born with bilateral choanal atresia, had birth asphyxia that required intubation. She underwent multiple surgeries for correction of choanal atresia at other hospitals but failed to improve. She was referred to Universiti Kebangsaan Malaysia Medical Center (UKMMC) after presenting with intermittent respiratory distress and cyanosis following an upper respiratory tract infection. A repeat computed tomography (CT) scan done preoperatively showed complete bony stenosis over the left choana and finding was confirmed by examination under general anesthesia. She underwent endoscopic transnasal removal of left bony atretic plate. There was no intra or postoperative complications. During follow up 10 years later, the airway on both sides remains patent. PMID:23466775

  16. Anatomic measurements of the posterior tympanum related to the round window vibroplasty in congenital aural atresia and stenosis patients.

    PubMed

    Chen, Keguang; Yin, Dongming; Lyu, Huiying; Yang, Lin; Zhang, Tianyu; Dai, Peidong

    2016-05-01

    Conclusions With the aggravation of the external auditory canal malformation, the size of extra-niche fossa became smaller, providing concrete data and valuable information for the better design, selecting and safer implantation of the transducer in the area of round window niche. Three-dimensional measurements and assessments before surgery might be helpful for a safer surgical approach and implantation of a vibrant soundbridge. Objectives The aim of this study was to investigate whether differences exist in the morphology of the posterior tympanum related to the round window vibroplasty among congenital aural atresia (CAA), congenital aural stenosis (CAS), and a normal control group, and to analyze its effect on the round window implantation of vibrant soundbridge. Methods CT images of 10 normal subjects (20 ears), 27 CAS patients (30 ears), and 25 CAA patients (30 ears) were analyzed. The depth and the size of outside fossa of round window niche related to the round window vibroplasty (extra-niche fossa)and the distances between the center of round window niche and extra-niche fossa were calculated based on three-dimensional reconstruction using mimics software. Finally, the data were analyzed statistically. Results The size of extra-niche fossa in the atresia group was smaller than in the stenosis group (p < 0.05); furthermore, the size of extra-niche fossa in the stenosis group was smaller than that of the control group (p < 0.05). There was no statistically significant difference of the depth of extra-niche fossa among different groups. PMID:27052964

  17. 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

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

    PubMed Central

    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

    2012-01-01

    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

  19. 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. PMID:25655429

  20. Congenital Aural Atresia Associated With Agenesis of Internal Carotid Artery in a Girl With a FOXI3 Deletion

    PubMed Central

    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

    2015-01-01

    We report on the molecular characterization of a microdeletion of approximately 2.5Mb 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. PMID:25655429

  1. 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.

  2. 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 ...

  3. Rectal atresia and anal stenosis: the difference in the operative technique for these two distinct congenital anorectal malformations.

    PubMed

    Lane, V A; Wood, R J; Reck, C; Skerritt, C; Levitt, M A

    2016-04-01

    Rectal atresia and anal stenosis are rare forms of anorectal malformations. The aim of the definitive surgical repair in such cases is to preserve the anal canal, the dentate line, and the sphincter complex. We present a case of rectal atresia and anal stenosis to demonstrate the differences in the operative repair. The techniques described leave the anterior wall of the very distal anal canal untouched in both rectal stenosis and anal atresia; however, the dissection of the rectum differs. The atretic rectum in rectal atresia is mobilized and sutured to the anal canal circumferentially. In anal stenosis, the posterior rectum is mobilized in the form of rectal advancement, and the posterior 180° is anastomosed directly to the skin (as in a standard PSARP) with preservation of the anal canal as the anterior 180° of the final anoplasty. These patients have an excellent prognosis for bowel control and fecal continence, and therefore, complete mobilization and resection of the anal canal must be avoided. PMID:26902368

  4. Pulmonary atresia

    MedlinePlus

    ... blood flow from the right ventricle (right side pumping chamber) to the lungs. In pulmonary atresia, a ... Reconstructing the heart as a single ventricle (1 pumping chamber instead of 2) Heart transplant

  5. Choanal atresia

    MedlinePlus

    ... condition is the most common nasal abnormality in newborn infants. Females get this condition about twice as often ... Newborns generally prefer to breathe through their nose. Typically, ... Babies with choanal atresia have difficulty breathing unless ...

  6. Pulmonary atresia

    MedlinePlus

    ... form of heart disease that occurs from birth (congenital heart disease), in which the pulmonary valve does not form ... As with most congenital heart diseases, there is no known cause of ... is associated with another type of congenital heart defect ...

  7. Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome

    PubMed Central

    Loomba, Rohit S; Geddes, Gabrielle

    2015-01-01

    Rubinstein-Taybi syndrome is a well-characterized condition causing distinctive physical characteristics, intellectual disability, and multiple congenital malformations. Cardiac abnormalities are found in a third of individuals with this condition and usually consist of isolated septal defects or patent ductus arteriosus, although more complex congenital lesions have been described. We present the first reported case of tricuspid atresia and pulmonary atresia with hypoplasia of the right ventricle in the setting of Rubenstein-Taybi syndrome. PMID:26085772

  8. Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome.

    PubMed

    Loomba, Rohit S; Geddes, Gabrielle

    2015-01-01

    Rubinstein-Taybi syndrome is a well-characterized condition causing distinctive physical characteristics, intellectual disability, and multiple congenital malformations. Cardiac abnormalities are found in a third of individuals with this condition and usually consist of isolated septal defects or patent ductus arteriosus, although more complex congenital lesions have been described. We present the first reported case of tricuspid atresia and pulmonary atresia with hypoplasia of the right ventricle in the setting of Rubenstein-Taybi syndrome. PMID:26085772

  9. Associated congenital anomalies between neonates with short-gap and long-gap esophageal atresia: a comparative study

    PubMed Central

    Aslanabadi, Saeid; Ghabili, Kamyar; Rouzrokh, Mohsen; Hosseini, Mohammad Bagher; Jamshidi, Masoud; Adl, Farzad Hami; Shoja, Mohammadali M

    2011-01-01

    Background: Predicting the presence of long-gap esophageal atresia (EA) prior to the surgery is of clinical importance. No comparison between short-gap and long-gap EA for the prevalence of VACTERL and non-VACTERL-type anomalies has yet been performed. Objective: The aim of this study was to compare VACTERL and non-VACTERL-type anomalies between patients with short-gap and long-gap EA. Methods: Retrospectively, medical records of all newborns managed for EA/tracheoesophageal fistula (TEF) in Tabriz Children’s Hospital and Tehran Mofid Hospital between 2007 and 2010 were evaluated. Demographic data and associated anomalies including both the VACTERL and non-VACTERL-type defects were listed. The VACTERL spectrum defects covered vertebral/costal, anorectal, cardiovascular, TEF, and renal- or radial-type limb anomalies. The non-VACTERL-type anomalies included hydrocephalus, orofacial defects, respiratory system anomalies, gastrointestinal anomalies, genital anomalies, and non-VACTERL limb defects. Demographic data, and the VACTERL and non-VACTERL-type anomalies were compared among children with long-gap EA and those with short-gap EA. Results: Two hundred and seventy-six children were included in the study: 230 (83.3%) in the short-gap EA group and 46 (16.7%) in the long-gap EA group. Although prevalence of the VACTERL spectrum anomalies did not differ between the two groups, the non-VACTERL anomaly was more common in the long-gap EA group (P = 0.02). Among the VACTERL-type defects, TEF was detected in 30 (65.2%) and 218 (94.7%) patients in long-gap and short-gap EA groups, respectively (P = 0.0001). Conclusion: The non-VACTERL-type anomalies, but not the VACTERL spectrum defects, are more frequent in patients with long-gap EA than those with short-gap EA. PMID:21760750

  10. A rare cause of pulmonary hypertension: congenital bilateral atresia of the superior pulmonary arteries and bilateral stenosis of the inferior pulmonary arteries.

    PubMed

    Ertem, Ahmet Goktug; Akdemir, Ramazan

    2014-02-01

    Bilateral absence (atresia) of the superior pulmonary arteries, combined with bilateral stenosis of the inferior pulmonary arteries, has not to our knowledge been reported before now. We report such a case in a 48-year-old woman, together with the medical and percutaneous catheter interventions used to treat her condition. PMID:24512407

  11. 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.

  12. Biliary atresia

    PubMed Central

    Chardot, Christophe

    2006-01-01

    Biliary atresia (BA) is a rare disease characterised by a biliary obstruction of unknown origin that presents in the neonatal period. It is the most frequent surgical cause of cholestatic jaundice in this age group. BA occurs in approximately 1/18,000 live births in Western Europe. In the world, the reported incidence varies from 5/100,000 to 32/100,000 live births, and is highest in Asia and the Pacific region. Females are affected slightly more often than males. The common histopathological picture is one of inflammatory damage to the intra- and extrahepatic bile ducts with sclerosis and narrowing or even obliteration of the biliary tree. Untreated, this condition leads to cirrhosis and death within the first years of life. BA is not known to be a hereditary condition. No primary medical treatment is relevant for the management of BA. Once BA suspected, surgical intervention (Kasai portoenterostomy) should be performed as soon as possible as operations performed early in life is more likely to be successful. Liver transplantation may be needed later if the Kasai operation fails to restore the biliary flow or if cirrhotic complications occur. At present, approximately 90% of BA patients survive and the majority have normal quality of life. PMID:16872500

  13. Fetal bronchoscopy as a useful procedure in a case with prenatal diagnosis of congenital microcystic adenomatoid malformation.

    PubMed

    Cruz-Martinez, Rogelio; Méndez, Antonio; Perez-Garcilita, Oscar; Monroy, Araceli; Aguilar-Vidales, Karla; Cruz-Martinez, Miriam Alejandra; Martinez-Morales, Cecilia

    2015-01-01

    Massive microcystic congenital cystic adenomatoid malformation (CCAM) and bronchial atresia are associated with a high perinatal mortality secondary to lung hypoplasia and cardiac dysfunction, and fetal intervention should be considered to improve prognosis. Therapeutic options include open fetal surgery with pulmonary resection, fetal sclerotherapy and fetoscopy. We present a case with a severely enlarged left lung without ultrasound signs of dilated airways compatible with the diagnosis of microcystic CCAM, hydrops and severe contralateral lung hypoplasia that was treated successfully at 30 weeks of gestation by fetal bronchoscopy, through which bronchial atresia was identified at the end of the left mainstem bronchi and permeabilized by laser ablation. After fetal surgery, weekly follow-up showed a progressive decrease in the affected lung size and an increase in the contralateral hypoplastic lung size, demonstrating normal dimensions of both lungs at 34 weeks of gestation, reversal of the mediastinal shift, and complete disappearance of hydrops. A healthy neonate was delivered uneventfully at term with no need for respiratory support, and the boy is now doing well at 15 months of age. This report demonstrates that in cases with prenatal diagnosis of large microcystic CCAM, fetal bronchoscopy can be used to refine the diagnosis of bronchial atresia and as a therapeutic tool with good outcome. PMID:25138479

  14. Fetal cardiac circulation in isolated aortic atresia assessed with ultrasound.

    PubMed

    Sayit, Aslı Tanrıvermiş; Ipek, Ali; Kurt, Aydın; Aghdasi, Bayan G; Arslan, Halil; Gümüş, Mehmet

    2012-01-01

    Congenital heart diseases are common, with an incidence of more than 8 in 1000 live births. Aortic atresia is a rare diagnosis and its prognosis is very poor. In this article, we present a case of isolated aortic atresia, a very rare cardiovascular anomaly, and its fetal ultrasound findings which include blood flow at foramen ovale from left to right, right deviation of the interventricular septum, dysfunction of the mitral valve and cardiomegaly. Aortic stenosis should be considered in the differential diagnosis of aortic atresia. However, in the case of severe aortic stenosis and/or accompanying ventricular septal defect, differential diagnosis may not be done. PMID:24592058

  15. Intestinal atresia occurring in association with placental fetal thrombotic vasculopathy: a case report with literature review.

    PubMed

    Lian, Derrick W Q; Lam, Joyce C M; Aung, Aye Chan Lwin; Li, Faye X; Chang, Kenneth T E

    2013-01-01

    Fetal thrombotic vasculopathy (FTV) is a thrombo-occlusive disorder of the placenta that has been reported in association with perinatal conditions such as cardiac abnormalities, neurological injury, and perinatal liver disease. These complications are related to fetal circulation vascular compromise. We herein report a previously undocumented association of congenital intestinal atresia and placental FTV. Vascular occlusion of the fetal mesenteric vessels has been hypothesized to result in congenital intestinal atresia. Our report provides support for this vascular hypothesis and illustrates the value of formal pathological examination of the placenta in explaining this occurrence of congenital intestinal atresia. PMID:22989172

  16. Genetics of gastrointestinal atresias.

    PubMed

    Celli, Jacopo

    2014-08-01

    Gastrointestinal atresias are a common and serious feature within the spectrum of gastrointestinal malformations. Atresias tend to be lethal, although, now-days surgery and appropriate care can restore function to the affected organs. In spite of their frequency, their life threatening condition and report history gastrointestinal atresias' etiology remains mostly unclarified. Gastrointestinal atresias can occur as sporadic but they are more commonly seen in association with other anomalies. For the syndromic cases there is mounting evidence of a strong genetic component. Sporadic cases are generally thought to originate from mechanical or vascular incidents in utero, especially for the atresias of the lower intestinal tract. However, recent data show that a genetic component may be present also in these cases. Embryological and genetic studies are starting to uncover the mechanism of gastrointestinal development and their genetic components. Here we present an overview of the current knowledge of gastrointestinal atresias, their syndromic forms and the genetic pathways involved in gastrointestinal malformation. PMID:25019371

  17. Atresia ani in the dog: a retrospective study.

    PubMed

    Vianna, Maria L; Tobias, Karen M

    2005-01-01

    Congenital anomalies of the rectum and anus are rare in dogs. The most frequently reported anomaly is atresia ani. Four types of atresia ani have been reported, including congenital anal stenosis (Type I); imperforate anus alone (Type II) or combined with more cranial termination of the rectum as a blind pouch (Type III); and discontinuity of the proximal rectum with normal anal and terminal rectal development (Type IV). An increased incidence was found in females and in several breeds, including miniature or toy poodles and Boston terriers. Surgical repair is the treatment of choice, but postoperative complications can occur, including fecal incontinence and colonic atony secondary to prolonged preoperative distension. PMID:16141183

  18. Laparoscopic duodenoduodenostomy for duodenal atresia.

    PubMed

    Bax, N M; Ure, B M; van der Zee, D C; van Tuijl, I

    2001-02-01

    A 3,220-g newborn baby with trisomy 21 presented with duodenal atresia. No other congenital malformations were diagnosed. Informed consent for a laparoscopic approach was obtained. The child was placed in a supine, head-up position slightly rotated to the left at the end of a shortened operating table. The surgeon stood at the bottom end with the cameraperson to his left and the scrub nurse to his right. The screen was at the right upper end. Open insertion of a cannula for a 5-mm 30 degrees telescope through the inferior umbilical fold was performed. A carbon dioxide (CO2) pneumoperitoneum with a pressure of 8 mmHg and a flow of 2l/min was established. Two 3.3-mm working cannulas were inserted; one in the left hypogastrium and one pararectally on the right at the umbilical level. Two more such cannulas were inserted; one under the xyphoid for a liver elevator and one in the right hypogastrium for a sucker. Mobilization of the dilated upper and collapsed lower duodenum was easy. After transverse enterotomy of the upper duodenum and longitudinal enterotomy of the distal duodenum, a diamond-shaped anastomosis with interrupted 5 zero Vicryl sutures were performed. The absence of air in the bowel beyond the atresia increased the working space and greatly facilitated the procedure. The technique proved to be easy, and the child did very well. Laparoscopic bowel anastomosis in newborn babies had not been described previously. Recently, a diamond-shaped duodenoduodenostomy for duodenal atresia was performed. The technique proved to be simple and is described in detail. The child did very well. PMID:12200660

  19. Histomorphological Features of Intestinal Atresia and its Clinical Correlation

    PubMed Central

    Singh, Meeta; Khurana, Nita; Sathish, Agarwal

    2015-01-01

    Introduction Intestinal atresia accounts for approximately one third of all cases of neonatal intestinal obstruction. There is controversy regarding pathogenesis of congenital atresia and stenosis of small bowel. Studies regarding clinical manifestations and specific histopathological features of neonatal intestinal atresia are scarce in Indian literature. Aim To understand the histomorphological features and thus suggest pathophysiology of cases with Intestinal Atresia. Materials and Methods Out of 147 cases, of intestinal obstruction in newborn studied over a period of 5 years, 39 cases of intestinal atresia were found. Their histomorphological details with clinical manifestations were studied. Results Type II was the commonest type of atresia. Associated anomalies noted were gastroschisis, volvulus, anal stenosis, microcolon, annular pancreas, meconium cyst and duplication cyst. Histological changes observed were ulceration, flattening, abnormal villous configuration, luminal obliteration, narrowing, haemangiomatous proliferation of blood vessels, fibrosis, haemorrhage, calcification, and mesenchymal condensation around the blood vessels. Gangrene and perforation has also noted in some cases. Conclusion An intrauterine intestinal ischemia due to vascular pathology followed by resorption of the bowel is the possible explanation for the development of intestinal atresia. PMID:26674207

  20. Facts about Pulmonary Atresia

    MedlinePlus

    ... Research Articles & Key Findings Free Materials Multimedia and Tools Links to Other Websites Information For... Media Policy Makers Facts about Pulmonary Atresia Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir Click here to view a ...

  1. Esophageal Atresia and Tracheoesophageal Fistula

    MedlinePlus

    ... Return to Web version Esophageal Atresia and Tracheoesophageal Fistula Overview What is esophageal atresia? In babies who ... gets into the stomach. What is a tracheoesophageal fistula? A fistula (say “fist-you-lah”) is a ...

  2. Familial Apple Peel Jejunal Atresia with Helical Umbilical Cord Ulcerations in Three Consecutive Pregnancies.

    PubMed

    Jaiman, Sunil; Gundabattula, Sirisha Rao; Ratha, Chinmayee

    2016-01-01

    Apple peel deformity is a rare form of upper intestinal atresia of unknown etiology. Umbilical cord ulcers can occur secondary to reflux of gastric juice and bile as a result of the atresia and can cause lethal intrauterine hemorrhage. The authors report 3 instances of congenital apple peel jejunal atresia with helical umbilical cord ulcers afflicting all female offspring in consecutive pregnancies in a single nonconsanguineous family. There was no hemorrhage from the cord ulcers, but all 3 pregnancies resulted in perinatal death. Although familial occurrence is known, our case series is probably the 1st from the Indian subcontinent and warrants further research into the genetic mechanisms and possible ethnic differences of congenital upper intestinal atresia. The causation of sudden fetal demise in the absence of antecedent cord hemorrhage remains elusive. PMID:26213797

  3. 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

  4. 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

  5. Isolated congenital tracheal stenosis in a preterm newborn.

    PubMed

    Krause, Ulrich; Rödel, Ralph M W; Paul, Thomas

    2011-09-01

    Severe tracheal stenosis, resulting in functional atresia of the trachea is a rare congenital malformation with an estimated occurrence of two in 100,000 newborns. If no esophagotracheal fistula is present to allow for spontaneous breathing, this condition is usually fatal. We report on a male infant born at 32 weeks of gestation. The patient presented with respiratory distress immediately after delivery due to severe congenital tracheal stenosis resulting in functional atresia of the trachea. Endotracheal intubation failed and even emergency tracheotomy did not allow ventilation of the patient lungs. The patient finally succumbed to prolonged hypoxia due to functional tracheal atresia. The etiology of tracheal atresia and tracheal stenosis is still unclear, but both conditions are frequently combined with other anomalies of the VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal/radial anomalies and limb defects) and TACRD (tracheal agenesis, cardiac, renal and duodenal malformations) association. Conclusion Successful treatment of severe congenital tracheal stenosis and tracheal atresia depends on either prenatal diagnosis or recognition of this condition immediately after birth to perform tracheotomy without delay. Nevertheless, despite any efforts, the therapeutical results of severe tracheal stenosis and tracheal atresia are still unsatisfactory. PMID:21590265

  6. A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia.

    PubMed

    Blackmore, Kate; Wynne, David M

    2010-08-01

    Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities. It may present with life threatening respiratory distress in the neonate secondary to nasal malformations. These include pyriform aperture stenosis and choanal atresia. We present the first reported case of simultaneous choanal atresia and pyriform aperture stenosis in a neonate with solitary median maxillary central incisor syndrome. The clinical presentation and the management of congenital pyriform aperture stenosis are discussed. PMID:20627328

  7. A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia.

    PubMed

    Blackmore, Kate; Wynne, David M

    2010-08-01

    Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities. It may present with life threatening respiratory distress in the neonate secondary to nasal malformations. These include pyriform aperture stenosis and choanal atresia. We present the first reported case of simultaneous choanal atresia and pyriform aperture stenosis in a neonate with solitary median maxillary central incisor syndrome. The clinical presentation and the management of congenital pyriform aperture stenosis are discussed. PMID:20626079

  8. Embryology of oesophageal atresia

    PubMed Central

    Ioannides, Adonis S.; Copp, Andrew J.

    2013-01-01

    Oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF) are important human birth defects of unknown aetiology. The embryogenesis of OA/TOF remains poorly understood mirroring the lack of clarity of the mechanisms of normal tracheo-oesophageal development. The development of rat and mouse models of OA/TOF has allowed the parallel study of both normal and abnormal embryogenesis. Although controversies persist, the fundamental morphogenetic process appears to be a rearrangement of the proximal foregut into separate respiratory (ventral) and gastrointestinal (dorsal) tubes. This process depends on the precise temporal and spatial pattern of expression of a number of foregut patterning genes. Disturbance of this pattern disrupts foregut separation and underlies the development of tracheo-oesophageal malformations. PMID:19103415

  9. Type II atresia ani associated with rectovaginal fistula in a male pseudohermaphrodite kitten

    PubMed Central

    Vallefuoco, Rosario; Alleaume, Charline; Jardel, Nicolas; Maenhoudt, Cindy; Cordonnier, Nathalie

    2013-01-01

    A combination of gastrointestinal and urogenital congenital abnormalities was diagnosed and surgically treated in a kitten. Physical examination, exploratory laparotomy, castration, histological examination, and cytogenetic karyotyping were utilized to determine the true gender of the kitten. The kitten was confirmed to be a male (38 XY) pseudohermaphrodite with Type II atresia ani and rectovaginal fistula. PMID:24155431

  10. 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

  11. 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

  12. Outcome of pregnancies in patients with complex pulmonary atresia.

    PubMed Central

    Neumayer, U.; Somerville, J.

    1997-01-01

    OBJECTIVE: To evaluate the outcome of pregnancies in patients with complex pulmonary atresia, comparing those with and without previous radical surgical repair. DESIGN: A retrospective study of all pregnancies in women with complex pulmonary atresia registered on the Grown-up Congenital Heart Unit database between 1977 and 1994. SETTING: Referral centre for adolescents and adults with congenital heart disease. PATIENTS: Forty one pregnancies occurred in 15 patients. They were divided into two groups; group I, 26 pregnancies in nine patients before radical repair (cyanotic); group II, 15 pregnancies in seven women after radical surgical repair. RESULTS: In group I there were three terminations, 13 miscarriages, eight healthy children, and two neonatal deaths. Five children were born prematurely and all had low birthweights. In group II there were two miscarriages, 11 normal children, and two children with congenital heart disease. None was premature and all had normal birthweights. There were major complications in both groups: in group I there were two thromboembolic complications and one episode of heart failure; in group II there was one pulmonary embolism and one arrhythmic complication, five pregnancies in three patients were complicated by left ventricular failure that was persistent in one case and progressive in another, leading to death 13 months after delivery. CONCLUSIONS: Patients with complex pulmonary atresia, with or without surgical repair, who have no or mild symptoms, can have successful pregnancies. Surgical repair decreases fetal complications significantly. In both groups thrombotic disorders and heart failure must be prevented. Patients with residual systemic-pulmonary collaterals after surgical repair are particularly at risk of left ventricular failure. PMID:9290396

  13. 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

  14. [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

  15. The Combination of Gastroschisis, Jejunal Atresia, and Colonic Atresia in a Newborn

    PubMed Central

    Bauman, Zachary; Nanagas, Victor

    2015-01-01

    We encountered a rare case of gastroschisis associated with jejunal atresia and colonic atresia. In our case, the jejunal atresia was not discovered for 27 days after the initial abdominal wall closure. The colonic atresia was not discovered for 48 days after initial repair of the gastroschisis secondary to the rarity of the disorder. Both types of atresia were repaired with primary hand-sewn anastomoses. Other than the prolonged parenteral nutrition and hyperbilirubinemia, our patient did very well throughout his hospital course. Based on our case presentation, small bowel atresia and colonic atresia must be considered in patients who undergo abdominal wall closure for gastroschisis with prolonged symptoms suggestive of bowel obstruction. Our case report also demonstrates primary enteric anastomosis as a safe, well-tolerated surgical option for patients with types of intestinal atresia. PMID:26180651

  16. 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

  17. An unusual colon atresia in a calf: at the junction of the distal loop and transverse colon. A brief overview

    PubMed Central

    Lombardero, Matilde; Yllera, María del Mar

    2014-01-01

    Congenital defects are those abnormalities present at birth. During embryogenesis, many anomalies can occur. The primitive gut tube lengthens quickly and rotates, allowing the gastrointestinal tract acquire its final position and orientation. Because the colon of large animals is complex, most changes occur in this segment. Thus, in ruminants, colon atresia is the most frequent malformation, affecting mainly ascending colon, at the level of the spiral loop. There are no previous references about a very atypical colon atresia at the junction of distal loop and transverse colon, such we have described in a 5-day-old calf, after a history of abdominal distention and absence of feces at birth, even with a patent anal opening. Atresia coli was detected at distal position of the typical colon atresia, at the junction of distal loop and transverse colon. In addition, the distal blind end was bent into a U-shape supported by the mesocolon. Besides the anatomical findings of this worthwhile atresia coli we discuss its possible etiology, in which local factors, such as a compromised blood supply during embryogenesis, are more consistent than genetic factors. Finding out the causes of atresia coli would help to reduce its incidence, lessen animal suffering and economic loss. PMID:25495264

  18. Tricuspid atresia. A review of 68 cases.

    PubMed

    Shariatzadeh, A N; King, H; Girod, D; Shumacker, H B

    1977-04-01

    Sixty-eight patients with tricuspid atresia were seen at Indiana University during the past 30 years. Long term survivors treated without operation emerged from our review. In these, there was a combination of tricuspid atresia and transposition of the great vessels. PMID:856550

  19. Pulmonary atresia with intact ventricular septum and hypoplastic right ventricle in an Arabian foal.

    PubMed

    Krüger, M U; Wünschmann, A; Ward, C; Stauthammer, C D

    2016-09-01

    Pulmonary atresia with intact ventricular septum, rudimentary tricuspid valve, hypoplastic right ventricle, and right-to-left atrial shunting were identified in a four-day-old, male Arabian foal with clinical signs of cyanotic heart disease. Pulmonary blood flow was apparently derived from a ductus arteriosus. Echocardiographic evaluation revealed the majority of cardiac abnormalities and also findings compatible with right-sided congestive heart failure. Congenital cardiac defects have a high incidence in this breed, and this is the first description of this combination of congenital cardiac defects. PMID:27283083

  20. [Succesful management of esophageal banding and gastrostomy for esophageal atresia in a trisomy 18 child with complex cardiac malformation].

    PubMed

    Osaka, Yoshimune; Ando, Takeshi; Kozono, Yuuki; Saito, Ikue; Saito, Rie; Shimada, Muneaki

    2014-11-01

    Trisomy 18 is one of the congenital disorders caused by a chromosomal abnormality. Ninety percent of fetuses with trisomy 18 have various other malformations. The present patient had heart failure due to a complex cardiac malformation and a Gross C type esophageal atresia. Before the esophageal banding, ventilation of the lungs was impossible and respiratory condition was unstable. Considering that direction of the shunt can easily change by hyperventilation and high oxygen concentration, we employed the lowest oxygen concentration and ventilation as possible. In the present case, it was necessary to provide respiratory care for both esophageal atresia and complex cardiac malformation. PMID:25731061

  1. 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

  2. Gallbladder Duplication Associated with Gastro-Intestinal Atresia.

    PubMed

    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

  3. [Echographic signs of biliary atresia].

    PubMed

    Tarasiuk, B A; Iaremenko, V V; Babko, S A; Klimenko, E F; Medvedenko, G F

    2004-10-01

    The assessment of echographic features of biliary atresia was conducted in 65 newborn children ageing up to 3 mo. Their characteristic variants were revealed: the absence or reduction in size of gall-bladder, the presence of hyperechogenic triangular formation in V. portae bifurcation (the symptom of "triangular cicatrix"); the thickening of anterior wall of V. portae right branch. The timely and correct establishment of the diagnosis permits a child to survive and serve the hepatic fibrosis prophylaxis. Echohepatography is a sufficiently trustful method of investigation. PMID:15628232

  4. 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

  5. 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

  6. Concomitant slide tracheoplasty and cardiac operation for congenital tracheal stenosis associated with VACTERL.

    PubMed

    Wu, En-Ting; Wang, Ching-Chia; Lin, Ming-Tai; Huang, Pei-Ming; Chen, Shyh-Jye; Huang, Chi-Hsiang; Hwang, Haw-Kwei; Chen, Ming-Ren; Huang, Shu-Chien

    2013-10-01

    The association of congenital tracheal stenosis and tracheoesophageal (TE) fistula is rare. Here, we report 2 patients with tracheobronchial stenosis (complete cartilage ring) involving the lower trachea and right bronchus. Both patients had associated VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, TE, renal, and limb defects) congenital cardiac defects and tracheal diverticula after repair of the TE fistula in type C esophageal atresia. The stenotic segment began at the orifice of the TE fistula, which became diverticula after the TE fistula was repaired. Concomitant repair of congenital cardiac defects and a slide tracheoplasty with elimination of the diverticula were performed successfully. PMID:24088476

  7. Sirenomelia with oesophageal atresia: a rare association.

    PubMed

    Sathe, Pragati Aditya; Ghodke, Ratnaprabha Kundlikrao; Kandalkar, Bhuvaneshwari Mahendra

    2014-02-01

    We are reporting a rare case of sirenomelia with oesophageal atresia. Sirenomelia is a lethal sporadic defect of which lower gastrointestinal tract anomalies are characteristic findings. Respiratory and upper gastrointestinal tract malformations like oesophageal atresia occur in about 20-35% of cases. Though its occurrence has been described, it has been reported only rarely. This report aims at describing this uncommon association along with its histological features. PMID:24701519

  8. Biliary atresia and neonatal hepatobiliary scintigraphy

    SciTech Connect

    Wynchank, S.; Guillet, J.; Leccia, F.; Soubiran, G.; Blanquet, P.

    1984-03-01

    Hepatobiliary scintigraphy using Tc-99m diethyl IDA was performed on 14 jaundiced neonates. It aided greatly the differential diagnosis between neonatal hepatitis and biliary atresia. Limitations in the interpretation of the results are described, as neonatal hepatitis may be accompanied by biliary excretion ranging from zero to normal. Also both biliary atresia (intra- and extrahepatic) and neonatal hepatitis may show no biliary excretion within 24 hours.

  9. Biliary atresia: the animal models.

    PubMed

    Petersen, Claus

    2012-08-01

    Biliary atresia (BA) is a progressive fibrosing process of the neonatal biliary tree and liver, of unknown origin, and an as-yet unexplained pathologic mechanism. The crucial point is to elucidate the origin of this rare disease to change palliative surgery to etiology-related procedures. Patient-based research can only begin at the time of the Kasai procedure and does not allow retracing of the pathology back to its origin. Basic research has focused on similar diseases in the veterinary literature and started to simulate BA in animal models. Unfortunately, even after 50 years of research, no knowledge has been gained from such models, which has led to a single clinical application. This article reviews BA in the context of the animal models available and discusses whether future studies are promising or futile. PMID:22800971

  10. Surgical management of oesophageal atresia.

    PubMed

    Teague, Warwick J; Karpelowsky, Jonathan

    2016-06-01

    There have been major advances in the surgery for oesophageal atresia (OA) and tracheo-oesophageal fistula(TOF) with survival now exceeding 90%. The standard open approach to OA and distal TOF has been well described and essentially unchanged for the last 60 years. Improved survival in recent decades is most attributable to advances in neonatal anaesthesia and perioperative care. Recent surgical advances include the use of thoracoscopic surgery for the repair of OA/TOF and in some centres isolated OA, thereby minimising the long term musculo-skeletal morbidity associated with open surgery. The introduction of growth induction by external traction (Foker procedure) for the treatment of long-gap OA has provided an important tool enabling increased preservation of the native oesophagus. Despite this, long-gap OA still poses a number of challenges, and oesophageal replacement still may be required in some cases. PMID:27217220

  11. Magnamosis: a novel technique for the management of rectal atresia

    PubMed Central

    Russell, Katie W; Rollins, Michael D; Feola, G Peter; Scaife, Eric R

    2014-01-01

    We report a case of rectal atresia treated using magnets to create a rectal anastomosis. This minimally invasive technique is straightforward and effective for the treatment of rectal atresia in children. PMID:25096648

  12. Rectal atresia: a rare cause of failure to pass meconium

    PubMed Central

    Laamrani, Fatima Zahrae; Dafiri, Rachida

    2014-01-01

    Rectal atresia or stenosis is an extremely rare anorectal malformation associating a normal anal canal with a stricture or a complete rectal atresia. We describe a case of rectal atresia in a newborn female presenting with an abdominal distension and failure of passing meconium. PMID:25821541

  13. 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. PMID:27123404

  14. 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

  15. Angiographic Findings in Biliary Atresia

    SciTech Connect

    Uflacker, Renan Pariente, Daniele M.

    2004-09-15

    We present the angiographic findings of 46 patients with biliary atresia (BA). There were 25 males and 21 females, with a mean age of 22.5 months (range - 1.5 to 141 months). Hepatic and mesenteric angiography were obtained as part of a liver transplantation work-up or as part of the treatment of clinical events. All patients had a histological diagnosis of BA. The portal vein was patent in 43 patients, with a mean size of 4.1 mm, using the arterial catheter as comparison. Portal hepatopetal flow was observed in 20 patient and hepatofugal flow was observed in 21 patients. Presence of gastroesophageal varices was observed in 41 patients. The hepatic artery was enlarged in all patients. In all 46 patients studied, the intrahepatic peripheral hepatic artery branches presented with irregularities in contour, including encasement, strictures, dilatation and angulation, and images suggestive of peripheral occlusion. Angiographic vascular 'tuft-like' blush surrounding the irregular or occluded peripheral arterial segments was observed in 40 patients. The injection of Microfil (registered) in one case showed a marked vascular proliferation within the portal tract, apparently derived from arterial and portal connections, filling the entire portal space. We conclude that the presence of angiographically demonstrable perivascular arterial tufts in the periphery of the hepatic arterial circulation is a common finding in cases of BA, and may be a characteristic diagnostic angiographic finding.

  16. 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 ...

  17. [Oral cholangiography and duodenal atresia].

    PubMed

    Baeza-Herrera, Carlos; León-Cruz, Alberto; Sanjuán-Fabián, Héctor; García-Cabello, Luís Manuel

    2006-01-01

    A newborn male patient with trisomy-21 presented with bilious hemesis. The patient was icteric with slight hepatomegaly. Simple abdominal X-ray and upper gastrointestinal series with barium showed a dilated duodenal loop and inflammatory changes involving the duodenal mucosa. This image known as "double bubble" is characteristic of congenital duodenal obstruction. Simultaneously the gallbladder and choledochus were visualized. The former X-ray finding is very unusual. An uneventful Kimura procedure was performed. PMID:16711553

  18. Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects.

    PubMed

    Freeman, S B; Torfs, C P; Romitti, P A; Royle, M H; Druschel, C; Hobbs, C A; Sherman, S L

    2009-02-01

    We report Down syndrome (DS)-associated congenital gastrointestinal (GI) defects identified during a 15 year, population-based study of the etiology and phenotypic consequences of trisomy 21. Between 1989 and 2004, six sites collected DNA, clinical and epidemiological information on live-born infants with standard trisomy 21 and their parents. We used chi-squared test and logistic regression to explore relationships between congenital GI defects and infant sex, race, maternal age, origin of the extra chromosome 21, and presence of a congenital heart defect. Congenital GI defects were present in 6.7% of 1892 eligible infants in this large, ethnically diverse, population-based study of DS. Defects included esophageal atresia/tracheoesophageal fistula (0.4%), pyloric stenosis (0.3%), duodenal stenosis/atresia (3.9%), Hirschsprung disease (0.8%), and anal stenosis/atresia (1.0%). We found no statistically significant associations between these defects and the factors examined. Although not significant, esophageal atresia was observed more often in infants of younger mothers and Hispanics, Hirschsprung disease was more frequent in males and in infants of younger mothers and blacks, and anal stenosis/atresia was found more often among females and Asians. PMID:19021635

  19. Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia.

    PubMed

    Berger, S; Ziebell, P; OFFsler, M; Hofmann-von Kap-herr, S

    1998-09-01

    A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in Mainz from 1977 to 1996. IND was associated with Hirschsprung's disease in 47 cases; 22 children with IND had other abdominal malformations, including anal atresia, rectal stenosis, sigmoidal stenosis, ileal atresia, pyloric stenosis, and esophageal atresia. A cystic bowel duplication, a choledochal cyst, and a persisting urachus were also found. Extra-abdominal malformations such as Down's syndrome, congenital diaphragmatic hernia, aortic stenosis, and malformations of vertebral bodies were seen. Twin siblings of children with IND were either healthy (n=3) or died in utero (n=1). Seventeen children with IND developed severe intra-abdominal complications during the perinatal period such as necrotizing enterocolitis (NEC), meconium ileus, or bowel perforations. NEC was frequently associated with preterm birth. Bowel perforations were seen in mature and preterm newborns with IND. Taken together, IND is found in a variety of obstructive bowel diseases. This may support the hypothesis that IND is a secondary phenomenon or that congenital atresias and stenoses of the digestive tract have a pathogenesis similar to that of intestinal innervation disturbances. IND may also be a part of complex malformation patterns since it occurs with a number of extraintestinal and non-obstructive intestinal malformations. PMID:9716673

  20. Tricuspid Atresia 18 Years Post Glenn: Is Fontan Necessary in All Cases?

    PubMed Central

    Williams-Phillips, S

    2015-01-01

    ABSTRACT Tricuspid atresia is a rare cyanotic congenital heart disease, first described by Kreysig (1817), with an incidence of 1% to 5%. It is incompatible with longevity without surgical intervention. Glenn (1958) was successful in using a superior vena cava to right pulmonary artery anastomosis. Fontan (1958) was successful in separating the right and left cardiac circulation; this is the surgical method of choice, with death of 17% by 20 years of age. The Fontan circulation has burdens of multisystem abnormalities, including ventricular dysfunction (72%), dysrhythmias (40%) and renal, hepatic, gastrointestinal and pulmonary complications. The index case is the oldest documented report of tricuspid atresia with rudimentary right ventricle and concordant ventriculo-arterial connections, 18 years post Glen only, from two years of age. She is asymptomatic, of high intellect, never used medications and is now functioning at New York Heart Association (NYHA) I–II at 20 years of age. Her survival and function was secondary to an innate large atrial and ventricular communication with normal left ventricle, mitral, aortic and pulmonary valves, indicating Fontan may not be needed in all structural anatomic cases of tricuspid atresia. PMID:26426189

  1. 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

  2. Bronchial secretion concentrations of tobramycin.

    PubMed

    Alexander, M R; Schoell, J; Hicklin, G; Kasik, J E; Coleman, D

    1982-02-01

    The mean concentrations of tobramycin in bronchial secretions from patients with pneumonia were almost two times greater than secretions from patients free of lung infection. Mean tobramycin bronchial secretion to serum concentration ratios also were higher when obtained from infected lungs (0.66 versus 0.17) These data suggest that lung infection enhances the concentrations of tobramycin in bronchial secretions. PMID:7065524

  3. Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia

    PubMed Central

    SAEED, Muhammad; HAQ, Anwar ul; QADIR, Khaqan

    2014-01-01

    Objective Bart’s syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. A newborn with Bart’s syndrome is reported because it is a very rare condition, especially when associated with corpus callosum agenesis and concomitant choanal atresia. Clinically it is characterized by raw beefy areas of denuded skin mainly on hands and feet. We report a rare case of a term female newborn born to non-consanguineous parents who presented with congenital absence of skin in, face, trunk and extremities. To the best of our knowledge, this is the first report presenting a case of Bart’s syndrome associated with corpus callosum agenesis. PMID:25657775

  4. Unusual bronchial foreign body.

    PubMed

    Kuba, Paresh Kumar; Sharma, Jasvinder; Sharma, Ashok Kumar

    2015-11-01

    We present an unusual case of bronchial foreign body in an adult who presented with bronchiectasis more than two decades later. The patient was unaware of his accidental aspiration of the foreign body, and the final diagnosis was made intraoperatively. PMID:26113734

  5. 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

  6. Long-term respiratory symptoms following oesophageal atresia

    PubMed Central

    Gatzinsky, Vladimir; Jönsson, Linus; Ekerljung, Linda; Friberg, Lars-Göran; Wennergren, Göran

    2011-01-01

    Background Oesophageal atresia (OA) is a congenital malformation that can lead to persistent respiratory symptoms in adulthood. Aim To describe the prevalence of respiratory symptoms in adulthood in a population-based study of patients with repaired OA and to compare this with the prevalence in the general population. Methods Of 80 patients operated for OA in Gothenburg in 1968–1983, 79 were located. The patients received a questionnaire on respiratory symptoms. Controls were 4979 gender- and age-matched subjects who answered the same questions. Results The questionnaire was answered by 73 of 79 (92%) patients. Physician-diagnosed asthma was reported by 30% in the OA group vs 10% in the control group (OR 4.1; 95% CI 2.4–6.8), and recurrent wheeze in 29% vs 5.5% (OR 6.9; 4.1–11.6). Also wheeze during the last year, asthma medication, a long-standing cough, cough with sputum production and chronic bronchitis were significantly more common among the patients with OA. In contrast, there was no significant difference regarding risk factors for asthma. The prevalence of respiratory symptoms did not appear to decrease with age. Conclusion A high prevalence of respiratory symptoms remains among adult patients with repaired OA. Many of the patients had an asthma diagnosis. However, asthma heredity or allergic rhinitis was not overrepresented. PMID:21418293

  7. 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

  8. 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

  9. Pulmonary atresia with double ductus arteriosus.

    PubMed

    Ismail, Tevfik F; Rigby, Michael; Rubens, Michael B; Nicol, Edward

    2015-01-01

    We present the case of a neonate with pulmonary atresia and persistent bilateral patent ductus arteriosus imaged by gated multidetector CT. Traditionally, these patients have been assessed preoperatively with invasive angiocardiography or with cardiovascular magnetic resonance under sedation. Our case illustrates that contemporary cardiovascular CT techniques can now be used for preoperative evaluation with minimal radiation penalty, obviating the risks of sedation or cardiac catheterization. PMID:25977110

  10. Bronchial carcinoma and hypercalcaemia

    PubMed Central

    Azzopardi, J. G.; Whittaker, R. S.

    1969-01-01

    Hypercalcaemia due to malignant disease, in the absence of bone metastases, is generally regarded as a rare event. It occurred in 16% of a series of cases of bronchial carcinoma coming to necropsy. Hypercalcaemia is a relatively common complication of bronchial carcinoma. The hypercalcaemia is usually accompanied by hypophosphataemia and, in this respect, must be distinguished from the hypercalcaemia that may be found with breast carcinoma. It is frequently accompanied by hypokalaemic alkalosis; this must not be confused with the metabolic disorder that results from the production of ectopic `ACTH'. The bones sometimes show changes of osteitis fibrosa akin to those seen in hyperparathyroidism. Cystic disease of bone recognizable radiologically is rare, probably because of the relatively short duration of the metabolic disturbance. The parathyroids are usually mildly atrophic. There is no evidence that the main pathogenetic mechanism is stimulation of the parathyroids by the tumour. Acceptable instances of parathyroid hyperplasia are very rare: the significance of these exceptional cases awaits further study. Squamous carcinoma of the bronchus is the type mainly incriminated. Oat-cell carcinoma and bronchial adenocarcinoma are involved less frequently than expected by chance. The significance of the tumour types implicated is discussed in relation to the possible pathogenesis. Images PMID:5365347

  11. Biliary atresia: an update on our understanding of the disorder.

    PubMed

    Narkewicz, M R

    2001-10-01

    Biliary atresia is the leading cause of cholestasis in infants younger than 3 months. It is also the leading indication for liver transplantation in children. This review focuses on recent advances in the etiology, diagnosis, and management of biliary atresia. PMID:11801889

  12. 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

  13. Near Total Jejuno-Ileal Atresia: A Management Challenge

    PubMed Central

    Sham, Minakshi; Singh, Dasmit

    2013-01-01

    A 2-day-old female neonate with the clinical picture of proximal small bowel atresia, on exploration, turned out to have intestinal atresia of a rare variety, i.e., a near-total jejuno-ileal atresia. The baby had total small bowel length of less than 10 cm. She survived for 3 months on enteral feeding after end-to-back duodeno-ileal anastomosis and thereafter succumbed to septicemia. The case is presented for it's extreme rarity and consideration of this extreme form of small bowel atresia as an offshoot of the existing classifications of jejuno-ileal atresia since it has dismal prognosis and presents as a management challenge even today. PMID:24049756

  14. [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

  15. Hepatic arterial loop with accessory right hepatic artery aneurysm with celiac atresia: endovascular therapy with a stent and detachable coils.

    PubMed

    Ferro, Carlo; Rossi, Umberto G; Seitun, Sara; Bovio, Giulio; Castellan, Lucio; De Paolis, Marco; Castaneda-Zuniga, Wilfrido R

    2008-08-01

    The present report describes an unusual case of an aneurysm of a right hepatic artery (RHA) branching from the superior mesenteric artery; the accessory RHA was looped to the left hepatic artery arising from the celiac axis (CA) and was associated with congenital atresia of the CA. The accessory RHA aneurysm was treated with the placement of a bare stent and detachable coils through the mesh of the stent. Complete and prompt exclusion of the aneurysm was achieved with blood flow preservation in the parent artery at midterm follow-up. PMID:18656020

  16. 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

  17. Biliary atresia: From Australia to the zebrafish.

    PubMed

    Davenport, Mark

    2016-02-01

    This review is based upon an invited lecture for the 52nd Annual Meeting of the British Association of Paediatric Surgeons, July 2015. The aetiology of biliary atresia (BA) is at best obscure, but it is probable that a number of causes or pathophysiological mechanisms may be involved leading to the final common phenotype we recognise clinically. By way of illustration, similar conditions to human BA are described, including biliary agenesis, which is the normal state and peculiar final pattern of bile duct development in the jawless fish, the lamprey. Furthermore, there have been remarkable outbreaks in the Australian outback of BA in newborn lambs whose mothers were exposed to and grazed upon a particular plant species (Dysphania glomulifera) during gestation. More recent work using a zebrafish model has isolated a toxic isoflavonoid, now named Biliatresone, thought to be responsible for these outbreaks. Normal development of the bile ducts is reviewed and parallels drawn with two clinical variants thought to definitively have their origins in intrauterine life: Biliary Atresia Splenic Malformation syndrome (BASM) and Cystic Biliary Atresia (CBA). For both variants there is sufficient clinical evidence, including associated anomalies and antenatal detection, respectively, to warrant their aetiological attribution as developmental BA. CMV IgM +ve associated BA is a further variant that appears separate with distinct clinical, histological, and immunohistochemical features. In these it seems possible that this involves perinatal obliteration of a normally formed duct system. Although still circumstantial, this evidence appears convincing enough to perhaps warrant a different treatment strategy. This then still leaves the most common (more than 60% in Western series) variant, now termed Isolated BA, whereby origins can only be alluded to. PMID:26653951

  18. Review of oesophageal atresia and tracheoesophageal fistula in hospital sultanah bahiyah, alor star. Malaysia from january 2000 to december 2009.

    PubMed

    Narasimman, S; Nallusamy, M; Hassan, S

    2013-01-01

    Oesophageal atresia (EA) and tracheoesophageal fistula (TEF) is one of the congenital anomaly occurring in the newborns with the incidence of 1 in 2500 births seen worldwide. A retrospective review of newborns admitted to Hospital Sultanah Bahiyah (HSB) from 1st January 2000 to 31st December 2009 was done. The objective was to look at the influence of birth weight, time of surgical intervention, presence of other congenital anomaly and presence of preoperative pneumonia to the immediate outcome (mortality) of the surgery. There were 47 patients with oesophageal atresia, out of which 26 (55%) were males and 21 (45%) females. The distribution of patients by race were 34 Malays (72%), 9 Chinese (19%) and 4 Indians (9%). The birth weight of the babies range from 0.8 kg to 4.0 kg and there was a significant association with the outcome of the surgery (p< 0.05). Most of the babies (20) were operated within 24 hours of presentation but there was no significant association to the outcome. 23 (49%) of them were born with congenital malformation and there was a significant association with the outcome of the surgery (p<0.05). Based on the chest roentgenogram, 20 (43%) of them had pneumonia with significant association with the outcome (p<0.05). The mortality rate is 23% and the causes of death were pneumonia (36%), renal failure (18%), cardiac malformation (18%) and multiple congenital malformations (28%). The outcome of EA and TEF is determined mainly by birth weight, congenital malformations and presence of preoperative pneumonia in HSB. PMID:23466767

  19. 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

  20. Respiratory Distress Secondary to Rhabdomyosarcoma of the Tongue and Co-existent Choanal Atresia.

    PubMed

    Chatopadhayay, Rahul; Tiwari, Preeti; Gangopadhyay, A N; Pandey, Vaibhav

    2016-07-01

    Whilst rhabdomyosarcoma (RMS) is the third most common solid tumour in children, congenital RMS of the tongue is extremely rare and usually present as painless progressive mass since birth (Dagher and Helman in Oncologist 4:34-44, 1999; Childs and Goudy in Int J Pediatr Otorhinolaryngol 5:126-128, 2010). In neonates, presentation with respiratory distress is unexpected as neonates are preferential nasal breathers and restricted oral breathing due to tumour usually poses no problem. We herein report a case of rhabdomyosarcoma of the tongue with co-existent unilateral choanal atresia, presenting with respiratory distress. The baby developed upper respiratory tract infection following which developed severe respiratory distress. Airway symptoms were precipitated as there was combined obstruction of both the nostrils due to infection or adenoid enlargement and unilateral chonal atresia. Treatment of respiratory distress in the presence of RMS and bilateral nasal pathology must first prioritise the security of the airway, before taking a multi-factorial approach to the therapy of the lingual mass (Childs and Goudy in Int J Pediatr Otorhinolaryngol 5:126-128, 2010). This case illustrates the importance of vigilance with respect to co-existent nasal pathology, in order to avoid the occurrence of complete airway obstruction. We therefore feel that any diagnosis of lingual RMS should warrant a formal examination of both nasal cavities. PMID:27408448

  1. 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

  2. Rarely Seen Nasal Congenital Problems Causing Neonatal Upper Respiratory Obstruction: A Case Series

    PubMed Central

    Başal, Yeşim; Akcan, Abdullah Bariş; Polat, Yasemin Durum; Günel, Ceren; Eryilmaz, Aylin; Başak, Sema

    2016-01-01

    Since newborns are obligatory nasal breathers, upper respiratory tract problems may sometimes be life threatening. The most common pathology causing dyspnea and stridor in newborns is laryngomalacia. Nasal cavity pathologies that risk the neonatal airway are more rarely met. These anomalies may be seen either as solitary anomalies or as a part of a syndrome. While choanal atresia is one of the best-known nasal cavity anomalies, choanal stenosis, congenital nasal mid-line masses, congenital nasal pyriform aperture stenosis, and nasal tip anomalies are more rarely seen structural pathologies. Choanal atresia may be present either as an isolated congenital anomaly or as a part of CHARGE syndrome. Some rare chromosome anomalies may also cause significant problems during nasal respiration in newborns. With this study, we presented a case series of newborns with pathologies that affected nasal respiration. Although the diagnosis and treatment of choanal atresia and congenital dacryocystocele are well known, the information on the diagnosis and treatment of the other two uncommon cases are limited. With this study, we aimed to contribute to the literature by presenting our approach in six cases having congenital pathologies that cause nasal respiratory obstruction. PMID:27114819

  3. Successful living donor liver transplant in a child with Abernethy malformation with biliary atresia, ventricular septal defect and intrapulmonary shunting.

    PubMed

    Singhal, Ashish; Srivastava, Ajitabh; Goyal, Neerav; Vij, Vivek; Wadhawan, Manav; Bera, Motilal; Gupta, Subash

    2009-12-01

    Congenital portosystemic shunts are the anomalies in which the mesenteric venous drainage bypasses the liver and drains directly into the systemic circulation. This is a report of a rare case of LDLT in a four-yr old male child suffering with biliary atresia (post-failed Kasai procedure) associated with (i) a large congenital CEPSh from the spleno-mesentric confluence to the LHV, (ii) intrapulmonary shunts, (iii) perimembranous VSD. The left lobe graft was procured from the mother of the child. Recipient IVC and the shunt vessel were preserved during the hepatectomy, and the caval and shunt clamping were remarkably short while performing the HV and portal anastomosis. Post-operative course was uneventful; intrapulmonary shunts regressed within three months after transplantation and currently after 18 months following transplant child is doing well with normal liver functions. CEPSh has been extensively discussed and all the published cases of liver transplantation for CEPSh were reviewed. PMID:19254272

  4. 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

  5. Atresia of the Colon Associated with Hirschsprung's Disease.

    PubMed

    Diaz, Diana N; Eftekhari, Kambiz

    2015-05-01

    Atresia of the colon is a rare anomaly with an incidence of between 1:20,000 and 1:66,000 live births being reported. Hirschsprung's disease association with Colonic atresia is usually diagnosed after several failures of intestinal anastomoses. We herein report one of the first patients in the literature diagnosed before a therapeutic challenge. A 2-day-old female was admitted with severe abdominal distention, bilious vomiting and failure to pass meconium. A distended abdomen accompanied by hypoactive bowel sounds was also observed. Abdominal X-ray revealed increased intestinal gas, mainly in the colon. Type IIIa atresia of the colon at the level of the splenic flexure was found at laparotomy. A temporary double-barrel colostomy was completed, and she was discharged from hospital on the tenth day after operation without any complications. At the age of 3 months, due to the aspect of the distal colon, a rectal biopsy was performed and aganglionosis was confirmed. The combination of intestinal aganglionosis and colonic atresia is extremely rare.  The concomitance of colonic atresia and aganglionosis is calculated to be in 1 in 10 million live births. Wilson, et al. claims that 80 percent of infants with colonic atresia have associated gastrointestinal anomalies. These defects include rotation and fixation anomalies. However, aganglionosis and intestinal neuronal dysplasia should be taken into account as well. When both diseases are combined, the etiology is still uncertain and several etiologies have been suggested. The association should be suspected in all cases of colonic atresia and rectal biopsies are advocated at the primary operation in patients with atresia of the colon. PMID:25959916

  6. Is AMH a regulator of follicular atresia?

    PubMed

    Seifer, David B; Merhi, Zaher

    2014-11-01

    We discuss the hypothesis that AMH is an intraovarian regulator that inhibits follicular atresia within the human ovary. Several indirect lines of evidence derived from clinical and basic science studies in a variety of different patient populations and model systems collectively support this hypothesis. Evidence presented herein include 1) timing of onset of menopause in women with polycystic ovary syndrome, 2) site of cellular origin and timing of AMH production, 3) AMH's influence on other critical growth factors and enzymes involved in folliculogenesis, and 4) AMH's inhibition of granulosa apoptosis. If this hypothesis is true, it may provide insight for treatment strategies for prevention and treatment of premature ovarian insufficiency, slowing natural ovarian aging, and/or delaying eventual ovarian failure. Such findings may lead to the development of 1) AMH agonists for retarding the onset of menopause and/or as a chemoprotectant prior to cancer therapy and 2) AMH antagonists for the treatment of PCOS. PMID:25193290

  7. Modified end-to-end anastomosis for the treatment of congenital tracheal stenosis with a bridging bronchus.

    PubMed

    Stock, Cameron; Nathan, Meena; Murray, Ryan; Rahbar, Reza; Fynn-Thompson, Francis

    2015-01-01

    An infant with a ventricular septal defect; Vertebral anomalies, Anal atresia, Cardiac anomalies, Tracho Esophageal fistula (TEF), Renal anomalies, Limb anomalies syndrome; and tracheal stenosis with a bridging bronchus underwent repair of the ventricular septal defect and trachea-bronchial reconstruction at age 11 months. Herein we describe our surgical approach to resection of the bridging bronchus and a technique using a modified end-to-end tracheal anastomosis for the correction of this complex anomaly. PMID:25555968

  8. Congenital cholestatic syndromes: What happens when children grow up?

    PubMed Central

    Ling, Simon C

    2007-01-01

    Although advances in the management of children with congenital cholestasis have enabled many to survive into adulthood with their native livers, even the most common of these conditions remains rare in adult hepatology practice. Among four congenital cholestatic syndromes (biliary atresia, Alagille syndrome, Caroli disease and congenital hepatic fibrosis, and progressive familial intrahepatic cholestasis), the published data on outcomes of the syndromes into adulthood suggest that a spectrum of severity of liver disease can be expected, from cirrhosis (almost universal in adults with biliary atresia who have not required liver transplantation) to mild and subclinical (eg, in the previously undiagnosed affected parent of an infant with Alagille syndrome). Complications associated with portal hypertension and nutritional deficiencies are common, and other associated features of the cholestatic syndrome may require appropriate attention, such as congenital heart disease in Alagille syndrome. Indications for liver transplantation include synthetic failure, progressive encephalopathy, intractable pruritus, recurrent biliary sepsis and recurrent complications of portal hypertension. Improved understanding of biliary physiology will hopefully translate into improved therapy for children and adults with cholestasis. PMID:18026579

  9. [Congenital thrombophilia].

    PubMed

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin. PMID:27076244

  10. Congenital toxoplasmosis

    MedlinePlus

    Congenital toxoplasmosis is a group of symptoms that occur when an unborn baby (fetus) is infected with the parasite ... Toxoplasmosis infection can be passed to a developing baby if the mother becomes infected while pregnant. The ...

  11. 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 ...

  12. Congenital cataract

    MedlinePlus

    ... of the following birth defects: Chondrodysplasia syndrome Congenital rubella Conradi-Hünermann syndrome Down syndrome (trisomy 21) Ectodermal ... Images Eye Cataract - close-up of the eye Rubella syndrome Cataract References Dahan E. Pediatric cataract surgery. ...

  13. Congenital syphilis

    MedlinePlus

    ... fact that this disease can be cured with antibiotics if caught early, rising rates of syphilis among pregnant women in the United States have increased the number of infants born with congenital syphilis.

  14. 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 ...

  15. Congenital rubella

    MedlinePlus

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

  16. MANNITOL BRONCHIAL CHALLENGE TEST IN ASTHMATIC CHILDREN.

    PubMed

    Miraglia Del Giudice, M; Capristo, C; Decima, F; Coronella, A; Indolfi, C; Parisi, G; Maiello, N

    2015-01-01

    Bronchial asthma is a chronic inflammatory disease characterized by bronchial obstruction, usually reversible spontaneously or after therapy, bronchial hyperreactivity and accelerated decrease of lung function that may possibly evolve into irreversible obstruction of the respiratory tract. Bronchial provocation tests can be used in order to assess the presence and degree of bronchial hyper reactivity. The recently introduced mannitol powder inhalation indirect test seems to have an interesting and promising role, especially in childhood, because of its high diagnostic specificity, easiness of execution and best standardization. In this study the authors focused on the significance and clinical use of mannitol bronchial challenge test in asthmatic children. PMID:26634590

  17. Current diagnosis and treatments for critical congenital heart defects

    PubMed Central

    ZENG, ZHANDONG; ZHANG, HONGWEI; LIU, FENGLI; ZHANG, NING

    2016-01-01

    Congenital heart defects (CHD) affect approximately 7% of infants, and account for 3% of all infant deaths. CHD is most often caused by the defects associated with ductus arteriosus, which is a vessel that usually closes shortly after birth. The types of CHD include tetralogy of fallot, hypoplastic left heart syndrome, pulmonary atresia, total anomalous pulmonary venous return, transposition of great arteries, tricuspid atresia and truncus arteriosus. There are some risk factors that can increase the chance of a fetus developing CHD such as prematurity, an existing CHD in a first-degree relative, genetic syndromes, infections in utero, maternal drug consumptions and disorders. CHD is diagnosed is through different techniques including pulse oximetry, echocardiograms and physical exams. In this review, we examined the current incidence of CHD, the risk factors associated with CHD, the current methods of diagnosis and surgical options used to repair the defects. PMID:27168772

  18. Gastroesophageal reflux and congenital gastrointestinal malformations.

    PubMed

    Marseglia, Lucia; Manti, Sara; D'Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-07-28

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  19. Gastroesophageal reflux and congenital gastrointestinal malformations

    PubMed Central

    Marseglia, Lucia; Manti, Sara; D’Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-01-01

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  20. Biliary Atresia: 50 Years after the First Kasai

    PubMed Central

    Wildhaber, Barbara E.

    2012-01-01

    Biliary atresia is a rare neonatal disease of unknown etiology, where obstruction of the biliary tree causes severe cholestasis, leading to biliary cirrhosis and death in the first years of life, if the condition is left untreated. Biliary atresia is the most frequent surgical cause of cholestatic jaundice in neonates and should be evoked whenever this clinical sign is associated with pale stools and hepatomegaly. The treatment of biliary atresia is surgical and currently recommended as a sequence of, eventually, two interventions. During the first months of life a hepatoportoenterostomy (a “Kasai,” modifications of which are discussed in this paper) should be performed, in order to restore the biliary flow to the intestine and lessen further damage to the liver. If this fails and/or the disease progresses towards biliary cirrhosis and life-threatening complications, then liver transplantation is indicated, for which biliary atresia represents the most frequent pediatric indication. Of importance, the earlier the Kasai is performed, the later a liver transplantation is usually needed. This warrants a great degree of awareness of biliary atresia, and the implementation of systematic screening for this life-threatening pathology. PMID:23304557

  1. Changes of smooth muscle contractile filaments in small bowel atresia

    PubMed Central

    Gfroerer, Stefan; Fiegel, Henning; Ramachandran, Priya; Rolle, Udo; Metzger, Roman

    2012-01-01

    AIM: To investigate morphological changes of intestinal smooth muscle contractile fibres in small bowel atresia patients. METHODS: Resected small bowel specimens from small bowel atresia patients (n = 12) were divided into three sections (proximal, atretic and distal). Standard histology hematoxylin-eosin staining and enzyme immunohistochemistry was performed to visualize smooth muscle contractile markers α-smooth muscle actin (SMA) and desmin using conventional paraffin sections of the proximal and distal bowel. Small bowel from age-matched patients (n = 2) undergoing Meckel’s diverticulum resection served as controls. RESULTS: The smooth muscle coat in the proximal bowel of small bowel atresia patients was thickened compared with control tissue, but the distal bowel was unchanged. Expression of smooth muscle contractile fibres SMA and desmin within the proximal bowel was slightly reduced compared with the distal bowel and control tissue. There were no major differences in the architecture of the smooth muscle within the proximal bowel and the distal bowel. The proximal and distal bowel in small bowel atresia patients revealed only minimal differences regarding smooth muscle morphology and the presence of smooth muscle contractile filament markers. CONCLUSION: Changes in smooth muscle contractile filaments do not appear to play a major role in postoperative motility disorders in small bowel atresia. PMID:22791945

  2. [Congenital syphilis].

    PubMed

    Tabák, Réka; Tabák, Adám; Várkonyi, Viktória

    2010-01-10

    Syphilis has been a re-emerging disease in the past few decades. As a consequence, the prevalence of congenital syphilis is expected to be on the rise. Maternal syphilis may be related to several pathologies, such as miscarriage, stillbirth, or congenital syphilis in the child. Infants that acquire syphilis in utero are frequently asymptomatic, and the organ damage caused by the infection may be apparent only years later. Syphilis is a curable disease, and most of its complications in the infant can be prevented by screening and treating the mother. Every newborn potentially infected should be treated with penicillin immediately starting on the day of birth. PMID:20061233

  3. Does bronchial hyperresponsiveness in asthma matter?

    PubMed

    Currie, Graeme P; Jackson, Catherine M; Lipworth, Brian J

    2004-01-01

    Bronchial hyperresponsiveness is a fundamental component of the asthmatic inflammatory process causing airway narrowing on exposure to a bronchoconstrictor stimulus. This in turn causes patients to experience symptoms of breathlessness, chest tightness, cough and wheeze. Bronchial challenge tests can be performed in the laboratory to establish the degree of bronchial hyperresponsiveness to both direct and indirect stimuli. The extent to which asthma pharmacotherapy attenuates bronchial hyperresponsiveness is therefore an important measure of efficacy. This review article discusses the effects of inhaled and oral asthma treatment upon bronchial hyperresponsiveness and highlights how, in conjunction with conventional measures of asthma control, it can be used as an aid to optimally manage patients. PMID:15260457

  4. Maternal Hypothyroidism in Early Pregnancy and Infant Structural Congenital Malformations

    PubMed Central

    Norstedt Wikner, Birgitta

    2014-01-01

    Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996–2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs) or risk ratios (RRs) after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23 259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1 567 736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98–1.14). For anal atresia the RR was 1.85 (95% CI 1.00–1.85) and for choanal atresia 3.14 (95% CI 1.26–6.47). The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible. PMID:24744955

  5. 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…

  6. 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

  7. Tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries in a patient with interstitial deletion of 16q21-q22.1.

    PubMed

    Yamamoto, Toshiyuki; Dowa, Yuri; Ueda, Hideaki; Kawataki, Motoyoshi; Asou, Toshihide; Sasaki, Yuki; Harada, Naoki; Matsumoto, Naomichi; Matsuoka, Rumiko; Kurosawa, Kenji

    2008-06-15

    A newborn male had an interstitial deletion of 16q21-q22.1 accompanying tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries (MAPCA), dysmorphic craniofacial features, failure to thrive, and severe psychomotor developmental delay. When the deletion in this patient and other reported patients are compared, the 16q22 region appears to be the smallest region for 16q deletion syndrome. Since over 50% of patients with the deletion of 16q22 region have congenital heart disease, there may be a responsible gene in this region. PMID:18470894

  8. 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

  9. Prenatal diagnosis of congenital high airway obstruction syndrome (CHAOS). Five case report.

    PubMed

    Aslan, Halil; Ekiz, Ali; Acar, Deniz Kanber; Aydiner, Burchan; Kaya, Basak; Sezer, Salim

    2015-03-01

    Congenital high airway obstruction syndrome (CHAOS) is an extremely rare life-threatening condition. Laryngeal atresia appears to be the most frequent cause. Generally the diagnosis is made with severely enlarged and highly echogenic lungs and additional ultrasound findings. The prognosis of the affected infants is often poor. Five cases are reported here that were diagnosed in a tertiary center between 2008 and 2014. PMID:25745665

  10. 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

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

    PubMed Central

    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 99mTc-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 99mTc-Mebrofenin hepatobiliary scintigraphy in an infant with BASM and stress the importance that the 99mTc-Mebrofenin hepatobiliary scintigraphy is part of a spectrum of imaging modalities in diagnosing BA. PMID:26838802

  12. 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. PMID:23778189

  13. 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. PMID:26704658

  14. Rectovaginal fistula with anal atresia in 5 dogs

    PubMed Central

    Rahal, Sheila C.; Vicente, Cristiane S.; Mortari, Ana C.; Mamprim, Maria J.; Caporalli, Evelyn H.G.

    2007-01-01

    Five dogs with rectovaginal fistula and atresia ani that had been treated by surgical correction of the malformations were studied retrospectively. Ages at presentation varied from 1 to 3 months and weight from 350 g to 7.5 kg. The histories included voiding of feces through the vulva, with or without tenesmus, usually observed after weaning. Atresia ani, presence of feces in the vaginal canal, abdominal distention, and discomfort on abdominal palpation were observed during clinical examination. Also, 3 dogs had partial tail agenesis. In all dogs, the rectovaginal fistula was isolated and transected, the vulvar and rectal defects were closed separately, and the atresia ani was repaired. Normal defecation was restored, but 1 dog had fecal incontinence that subsequently resolved. One dog died 2.5 months postoperatively, and follow-up was done on the others for periods ranging from 1.6 year to 7.7 years. Surgical correction in dogs with rectovaginal fistula and atresia ani may result in a favorable outcome, if it is done early. PMID:17824325

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

    PubMed Central

    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

  16. 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

  17. Congenital lobar emphysema. A rare cause of hypertension.

    PubMed

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

    2016-07-01

    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 occured 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

  18. [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

  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 Adrenal Hyperplasia

    MedlinePlus

    MENU Return to Web version Congenital Adrenal Hyperplasia Overview What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia, or CAH, is a disorder that affects the adrenal glands. The adrenal ...

  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 Anomalies in Infant with Congenital Hypothyroidism

    PubMed Central

    Razavi, Zahra; Yavarikia, Alireza; Torabian, Saadat

    2012-01-01

    Objective Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran. Methods The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinic of Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant’s first year of life. Results A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males) were recruited during the period between May 2006-2010. Overall, 30 (20%) infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1%) had congenital cardiac anomalies such as: ASD (n=3), VSD (n=2), PS (n =1), PDA (n=1). Three children (2.6%) had developmental dysplasia of the hip (n=3). Conclusion The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies. PMID:23074545

  3. 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

  4. Multiple Congenital Colonic Stenosis: A Rare Gastrointestinal Malformation

    PubMed Central

    Elisa, Zambaiti; Cinzia, Chiaramonte; Sergio, Salerno; Giuseppe, Li Voti; Fortunato, Siracusa

    2016-01-01

    Congenital colonic stenosis is a rare pediatric condition. Since 1968, only 16 cases have been reported in the literature. To the authors' knowledge, multiple congenital colonic stenosis has not been previously reported in the literature. We report the case of a 2-month-old male, presented at our Neonatal Intensive Care Unit with a suspicion of intestinal malrotation. Clinical examination revealed persistent abdominal distension. During the enema examination, the contrast medium appeared to fill the lumen of the colon up to three stenotic segments and could not proceed further. Intraoperatively we confirmed the presence of four types of colonic atresia, located in the ascending, transverse, and descending colon, respectively, plus appendix atresia. First surgical steps consisted in resection of proximal stenotic segment, appendix removal, proximal cecostomy, and distal colostomy on ascending colon in order to preserve colonic length. Histopathological examination confirmed the diagnosis of colonic stenosis. Final surgical step consisted in multiple colocolostomy and enteroplasty. A planned two-stage procedure, consisting of resection with colostomy for decompression as the first step and a later anastomosis, is recommended in order to allow bowel length preservation. PMID:27066287

  5. Multiple Congenital Colonic Stenosis: A Rare Gastrointestinal Malformation.

    PubMed

    Elisa, Zambaiti; Cinzia, Chiaramonte; Sergio, Salerno; Giuseppe, Li Voti; Fortunato, Siracusa

    2016-01-01

    Congenital colonic stenosis is a rare pediatric condition. Since 1968, only 16 cases have been reported in the literature. To the authors' knowledge, multiple congenital colonic stenosis has not been previously reported in the literature. We report the case of a 2-month-old male, presented at our Neonatal Intensive Care Unit with a suspicion of intestinal malrotation. Clinical examination revealed persistent abdominal distension. During the enema examination, the contrast medium appeared to fill the lumen of the colon up to three stenotic segments and could not proceed further. Intraoperatively we confirmed the presence of four types of colonic atresia, located in the ascending, transverse, and descending colon, respectively, plus appendix atresia. First surgical steps consisted in resection of proximal stenotic segment, appendix removal, proximal cecostomy, and distal colostomy on ascending colon in order to preserve colonic length. Histopathological examination confirmed the diagnosis of colonic stenosis. Final surgical step consisted in multiple colocolostomy and enteroplasty. A planned two-stage procedure, consisting of resection with colostomy for decompression as the first step and a later anastomosis, is recommended in order to allow bowel length preservation. PMID:27066287

  6. Association of Duodenal Atresia, Malrotation, and Atrial Septal Defect in a Down-Syndrome Patient.

    PubMed

    Angotti, R; Molinaro, F; Sica, M; Mariscoli, F; Bindi, E; Mazzei, O; Ferrara, F; Messina, M

    2016-01-01

    Duodenal atresia is the frequent cause of neonatal intestinal obstruction. The association between duodenal atresia, intestinal malrotation, cardiac anomalies and Down syndrome is infrequently reported. We present a prenatally suspected case of duodenal atresia which was associated with malrotation and atrial septal defect in a patient of Down syndrome. Duodenotomy and resection of web was performed in addition to Ladd's procedure. Postoperative course remained uneventful. PMID:27170921

  7. Association of Duodenal Atresia, Malrotation, and Atrial Septal Defect in a Down-Syndrome Patient

    PubMed Central

    Molinaro, F; Sica, M; Mariscoli, F; Bindi, E; Mazzei, O; Ferrara, F; Messina, M

    2016-01-01

    Duodenal atresia is the frequent cause of neonatal intestinal obstruction. The association between duodenal atresia, intestinal malrotation, cardiac anomalies and Down syndrome is infrequently reported. We present a prenatally suspected case of duodenal atresia which was associated with malrotation and atrial septal defect in a patient of Down syndrome. Duodenotomy and resection of web was performed in addition to Ladd’s procedure. Postoperative course remained uneventful. PMID:27170921

  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. PMID:27190912

  9. Appearances are Deceptive – Passing a Nasogastric Tube does Not Always Rule Out Oesophageal Atresia

    PubMed Central

    Thomas, Niranjan

    2016-01-01

    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. PMID:27190912

  10. 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.

  11. Left main coronary artery atresia in an infant with Shone's complex.

    PubMed

    Pizzuto, Matthew F; Zampi, Jeffrey D

    2016-06-01

    A 6-month-old infant with Shone's complex was found to have left main coronary artery atresia during evaluation for recurrent subaortic stenosis with depressed left ventricular function. The ventricular function improved after surgical subaortic resection without coronary re-vascularisation. This case demonstrates first the rare finding of left main coronary artery atresia and second that coronary re-vascularisation is not necessarily required in all cases of left main coronary artery atresia. PMID:26898109

  12. [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

  13. [Bilateral bronchial rupture: problems of respiratory management].

    PubMed

    Sztark, F; Thicoïpé, M; Favarel-Garrigues, J F; Velly, J F; Lassié, P

    1995-01-01

    The authors report the case of bilateral bronchial rupture in a 39-year-old multiple trauma patient. During the thoracotomy for right main bronchus repair, a partial left bronchial rupture was recognized because of severe hypoxaemia after left selective intubation. PMID:7486281

  14. [Endobronchial aspergilloma revealing a bronchial carcinoma].

    PubMed

    Slimani, Hajar; Soualhi, Mouna; Sadak, Nouzha; Zahraoui, Rachida; Bourkadi, Jamal-Eddine

    2016-08-01

    Endobronchial aspergillosis is a rare presentation of pulmonary aspergillosis in immunocompetent patients; this raises questions about structural changes inducing airflow stasis in order to colonize the bronchial lumen. We present the case of a patient diagnosed with endobronchial aspergilloma covering a bronchial adenocarcinoma. PMID:27475005

  15. A Very Rare Cause of Anal Atresia: Currarino Syndrome.

    PubMed

    Buyukbese Sarsu, Sevgi; Parmaksiz, Mehmet Ergun; Cabalar, Esra; Karapur, Ali; Kaya, Cihat

    2016-05-01

    Currarino syndrome (triad) is an extremely rare condition characterized by presacral mass, anorectal malformation, and sacral bone deformation. The complete form of this syndrome displays all three irregularities. Herein, we report a male case who was admitted to our hospital with symptoms of urinary system infection and persistent constipation 2 years after colostomy operation performed with the indication of rectovestibular fistula and anal atresia, diagnosed as Currarino syndrome based on imaging modalities. In a patient who was admitted because of the presence of anal atresia, in order to preclude potential complications, probable concomitancy of this syndrome should not be forgotten. Early diagnosis is important for the prevention of meningitis, urinary tract infections, and malignant change. PMID:27081429

  16. [Esophageal atresia: oral behavior in the neonatal period].

    PubMed

    Lecoufle, A

    2012-09-01

    The term "abnormal oral behavior" is now frequently used for very different entities. In esophageal atresia, oral behavior can be altered by esophageal dysfunction, but many other mechanisms can be involved. In this respect, the main goal is to prevent these abnormal oral behaviors: how can the early consequences of treatment of esophageal atresia on oral behavior be minimized? How can hospital care be improved? Our goal is to restore to the mouth its fundamental role of giving pleasure despite intrusive treatments, to set up early multidisciplinary preventive actions around orality, and to organize a longitudinal follow-up of speech therapy for these children, in order to be able to help them in the different oral and feeding stages. PMID:22885002

  17. A Very Rare Cause of Anal Atresia: Currarino Syndrome

    PubMed Central

    Buyukbese Sarsu, Sevgi; Parmaksiz, Mehmet Ergun; Cabalar, Esra; Karapur, Ali; Kaya, Cihat

    2016-01-01

    Currarino syndrome (triad) is an extremely rare condition characterized by presacral mass, anorectal malformation, and sacral bone deformation. The complete form of this syndrome displays all three irregularities. Herein, we report a male case who was admitted to our hospital with symptoms of urinary system infection and persistent constipation 2 years after colostomy operation performed with the indication of rectovestibular fistula and anal atresia, diagnosed as Currarino syndrome based on imaging modalities. In a patient who was admitted because of the presence of anal atresia, in order to preclude potential complications, probable concomitancy of this syndrome should not be forgotten. Early diagnosis is important for the prevention of meningitis, urinary tract infections, and malignant change. PMID:27081429

  18. Congenital neuroblastoma

    PubMed Central

    Evans, A. R.

    1965-01-01

    The clinical histories and post-mortem findings in five cases of neuroblastoma are described, and an account given of the microscopic characteristics of the tumours. In four of the cases the tumour was present at birth and was probably so in the fifth case. In only one case was the presence of the malignant tumour a significant factor in causing death. The differential diagnosis of such tumours is discussed. The accumulated evidence of many recorded cases suggests that neuroblastoma, becoming manifest in the early months or weeks of life, and congenital tumour, would be included in such a group, and has an appreciably better prognosis than has this same tumour when it becomes manifest in later childhood. The literature is briefly reviewed to illustrate this aspect of prognosis and possible reasons for it are indicated. Images PMID:14247705

  19. Congenital Cholesteatoma.

    PubMed

    Walker, David; Shinners, Michael J

    2016-05-01

    Congenital cholesteatoma is one of the more common causes of the onset of childhood conductive hearing loss unrelated to middle ear effusion. If undiagnosed, the disease can progress to irreversibly destroy the conductive hearing architecture, as well as the surrounding skull base of the lateral temporal bone. When diagnosed early, the growth can be removed and the conductive hearing mechanism preserved in the vast majority of patients. Because most children are asymptomatic, the burden falls on primary care providers to perform pneumatic otoscopy and visualize all quadrants of the tympanic membrane even in young children who frequently resist attempts to conduct a thorough examination to rule out suspicious lesions. [Pediatr Ann. 2016;45(5):e167-e170.]. PMID:27171804

  20. Congenital amusia.

    PubMed

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. PMID:23622169

  1. Congenital hypothyroidism

    PubMed Central

    Agrawal, Pankaj; Philip, Rajeev; Saran, Sanjay; Gutch, Manish; Razi, Mohd Sayed; Agroiya, Puspalata; Gupta, Keshavkumar

    2015-01-01

    Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis) that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4) or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ) and the age at diagnosis. Levothyroxine (l-thyroxine) is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential. PMID:25729683

  2. Robotic approach to vaginal atresia repair in an adolescent girl

    PubMed Central

    Pushkar, Praveen; Rawat, Suresh Kumar; Chowdhary, Sujit Kumar

    2015-01-01

    A 9-year-old girl presented to us, after failed perineal approach for vaginal atresia, with abdominal pain. She was thoroughly evaluated and contrast enhanced computed tomographic was done, which revealed absence of lower 1/3rd of vagina with normal uterus, fallopian tubes and ovaries. There was no associated anomaly. She was successfully managed by a combined robotic and perineal approach. Follow-up after 6 and 12 months revealed large capacious vagina with healthy mucocutaneous junction. PMID:26229336

  3. False Computed Tomography Findings in Bilateral Choanal Atresia

    PubMed Central

    Elsheikh, Ezzeddin; El-Anwar, Mohammad Waheed

    2015-01-01

    Introduction Choanal atresia (CA) is a challenging surgical problem defined as a failure in the development of communication between the nasal cavity and nasopharynx. Objective The objective of this study is to describe computed tomography (CT) findings in cases with bilateral choanal atresia. Methods The study involved performing axial and coronal non-contrast CT scanning with 2–3 mm sections on14 neonates that had bilateral CA. We used fiberoptic nasal endoscopy to confirm the diagnosis. We evaluated coronal CT to study the skull base area in such neonates. Results This study included 14 neonates with bilateral CA; with mean age of 7 ± 3.5 days. Mixed atretic plates were found in 12 (85.7%) cases while two (14.3%) had pure bony atresia. Isolated CA was detected in 9 cases (64.3%) and 5 (35.7%) cases had associated anomalies. Coronal CT showed soft tissue density in the nasal cavity that appeared to extend through an apparent defect in the nasal roof (cribriform plate), falsely diagnosed by radiologists as associated encephalocele. At the time of surgical repair, all patients showed thick tenacious mucous secretions in both nasal cavities and revealed no encephalocele. Nasal roof remained intact in all cases. Conclusion The thick secretion of bilateral CA could give a false encephalocele appearance on the CT. It is highly recommended to perform proper suction of the nasal cavity of suspected CA cases just before CT scanning. PMID:27096022

  4. False Computed Tomography Findings in Bilateral Choanal Atresia.

    PubMed

    Elsheikh, Ezzeddin; El-Anwar, Mohammad Waheed

    2016-04-01

    Introduction Choanal atresia (CA) is a challenging surgical problem defined as a failure in the development of communication between the nasal cavity and nasopharynx. Objective The objective of this study is to describe computed tomography (CT) findings in cases with bilateral choanal atresia. Methods The study involved performing axial and coronal non-contrast CT scanning with 2-3 mm sections on14 neonates that had bilateral CA. We used fiberoptic nasal endoscopy to confirm the diagnosis. We evaluated coronal CT to study the skull base area in such neonates. Results This study included 14 neonates with bilateral CA; with mean age of 7 ± 3.5 days. Mixed atretic plates were found in 12 (85.7%) cases while two (14.3%) had pure bony atresia. Isolated CA was detected in 9 cases (64.3%) and 5 (35.7%) cases had associated anomalies. Coronal CT showed soft tissue density in the nasal cavity that appeared to extend through an apparent defect in the nasal roof (cribriform plate), falsely diagnosed by radiologists as associated encephalocele. At the time of surgical repair, all patients showed thick tenacious mucous secretions in both nasal cavities and revealed no encephalocele. Nasal roof remained intact in all cases. Conclusion The thick secretion of bilateral CA could give a false encephalocele appearance on the CT. It is highly recommended to perform proper suction of the nasal cavity of suspected CA cases just before CT scanning. PMID:27096022

  5. [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

  6. Impact of bronchial circulation on bronchial exudation following combined burn and smoke inhalation injury in sheep

    PubMed Central

    Morita, Naoki; Enkhbaatar, Perenlei; Maybauer, Dirk M.; Maybauer, Marc O.; Westphal, Martin; Murakami, Kazunori; Hawkins, Hal K.; Cox, Robert A.; Traber, Lillian. D.; Traber, Daniel L.

    2011-01-01

    We previously reported bronchial circulation contributes to pulmonary edema and increases shunt fraction following smoke inhalation, and bronchial blood flow significantly increases in inhalation injury. We hypothesized reduction of bronchial blood flow reduces exudation to the airway and ameliorates lung injury from combined burn and smoke insults (B & S injury). Method Merino ewes (n=28) randomly divided into three groups (1: bronchial artery ligated and injured (Injury + ligation group); 2: bronchial artery left intact and injured (Injury + no ligation group); 3: bronchial artery ligated but not injured (No injury + ligation group) were subjected to a flame burn and inhalation injury under halothane anesthesia. Parameters were analyzed using Scheffe’s post hoc test (P<0.05). All Groups were resuscitated with Ringer lactate solution and placed on a ventilator for 48 hours. Results Pulmonary gas exchange (PaO2/FiO2) improved in injury + ligation group. Further, obstruction score, an index of airway cast formation, significantly changed between injury + no ligation group compared to both ligation groups. Conclusion Bronchial circulation plays a significant role in lung injury after B & S injury, and reduction of bronchial blood flow by bronchial artery ligation reduces bronchial exudation, resulting in improved gas exchange. PMID:21195551

  7. 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

  8. 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

  9. Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.

    PubMed Central

    Christodoulou, J; McDougall, P N; Sheffield, L J

    1989-01-01

    We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition. Images PMID:2553970

  10. 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

  11. 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

  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. 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

  14. 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

  15. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

    PubMed Central

    2013-01-01

    Background Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as well. We set forth to find further conditions caused by mutations in the EFTUD2 gene (OMIM *603892). Methods and results We performed exome sequencing in two familial cases with clinical features overlapping with MFDGA and EA, but which were previously assumed to represent distinct entities, a syndrome with esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and intellectual disability in a mother and her two children [AJMG 143A(11):1135-1142, 2007] and a supposedly autosomal recessive oto-facial syndrome with midline malformations in two sisters [AJMG 132(4):398-401, 2005]. While the analysis of our exome data was in progress, a recent publication made EFTUD2 mutations highly likely in these families. This hypothesis could be confirmed with exome as well as with Sanger sequencing. Also, in three further sporadic patients, clinically overlapping to these two families, de novo mutations within EFTUD2 were identified by Sanger sequencing. Our clinical and molecular workup of the patients discloses a broad phenotypic spectrum, and describes for the first time an instance of germline mosaicism for an EFTUD2 mutation. Conclusions The clinical features of the eight patients described here further broaden the phenotypic spectrum caused by EFTUD2 mutations or deletions. We here show, that it not only includes mandibulofacial dysostosis type Guion-Almeida, which should be reclassified as an acrofacial dysostosis because of thumb anomalies (present in 12/35 or 34% of patients) and syndromic esophageal atresia [JMG 49(12). 737-746, 2012], but also the two new syndromes, namely oto-facial syndrome with midline malformations published by Mégarbané et al. [AJMG 132(4): 398

  16. 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.

  17. [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. PMID:26118082

  18. Penetration of pefloxacin into bronchial secretions.

    PubMed Central

    Bonmarchand, G; Grès, J J; Lerebours, G; Massari, P; Mayoux, J J; Montay, A; Leroy, J

    1989-01-01

    Twelve patients, intubated for acute exacerbation of chronic obstructive pulmonary disease, received six intravenous doses of 400 mg of pefloxacin at 12-h intervals. Samples of blood and bronchial secretions were taken simultaneously, before the injection and at 0.5, 3, 6, 9, and 12 h after the end of the sixth infusion. There was a large variation in pefloxacin levels in both serum and bronchial secretions. The mean concentrations of pefloxacin in bronchial secretions ranged from 6.51 to 11.1 micrograms/ml and were higher than the corresponding concentrations in serum at all times. Of 61 bronchial specimens, 48 (79%) contained more than 8 micrograms of the antibiotic per ml. PMID:2729932

  19. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  20. Congenital heart disease

    MedlinePlus

    Congenital heart disease is a problem with the heart's structure and function that is present at birth. ... Congenital heart disease (CHD) can describe a number of different problems affecting the heart. It is the most common ...

  1. Adult Congenital Heart Association

    MedlinePlus

    ... to ACHA Search The futures of adults with congenital heart disease made brighter by their pasts Get Involved 2016 ... conference theme is "The Changing Landscape of Adult Congenital Heart Disease." Join Us Help us improve the quality of ...

  2. Congenital Heart Information Network

    MedlinePlus

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  3. Treatment of bronchial obstruction in asthmatic children.

    PubMed

    Spicak, V; Kacirek, S; Pohunek, P

    1987-01-01

    In asthmatic children, clenbuterol causes bronchodilatation for 12h. Ipratropium bromide plus fenoterol is effective in stopping dry irritable cough related to bronchial obstruction. Sustained-release theophylline is effective with therapeutic serum and saliva concentrations for 16h. Ambroxol hydrochloride provides an additional therapy for bronchial obstructure since it reduces cough and sputum output. Cromoglycate and ketotifen are appropriate for long term treatment, and a combination of bronchodilators may offer better control of nocturnal asthma. PMID:3664019

  4. 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.

  5. Recent developments regarding periostin in bronchial asthma.

    PubMed

    Izuhara, Kenji; Matsumoto, Hisako; Ohta, Shoichiro; Ono, Junya; Arima, Kazuhiko; Ogawa, Masahiro

    2015-09-01

    Although it is currently recognized that bronchial asthma is not a single disease but a syndrome, we have not yet made use of our new understanding of this heterogeneity as we treat asthma patients. To increase the efficacy of anti-asthma drugs and to decrease costs, it is important to stratify asthma patients into subgroups and to develop therapeutic strategies for each subgroup. Periostin has recently emerged as a biomarker for bronchial asthma, unique in that it is useful not in diagnosis but in categorizing asthma patients. We first found that periostin is a novel component of subepithelial fibrosis in bronchial asthma downstream of IL-13 signals. Thereafter, it was shown that periostin can be a surrogate biomarker of type 2 immune responses, the basis of the notion that a detection system of serum periostin is potentially a companion diagnostic for type 2 antagonists. Furthermore, we have recently shown that serum periostin can predict resistance or hyporesponsiveness to inhaled corticosteroids, based on its contribution to tissue remodeling or fibrosis in bronchial asthma. Thus, serum periostin has two characteristics as a biomarker for bronchial asthma: it is both a surrogate biomarker of type 2 immune responses and a biomarker reflecting tissue remodeling or fibrosis. We can take advantage of these characteristics to develop stratified medicine in bronchial asthma. PMID:26344077

  6. 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

  7. Congenital sternoclavicular dermoid sinus.

    PubMed

    Willaert, Annelore; Bruninx, Liesje; Hens, Greet; Hauben, Esther; Devriendt, Koen; Vander Poorten, Vincent

    2016-02-01

    We report a case series of 8 patients, presenting with a congenital sinus in the region of the sternoclavicular joint. This rare malformation has only been reported in the Japanese dermatological literature under the name of "congenital dermoid fistula of the anterior chest region". It has to be distinguished from other congenital anomalies and requires complete excision. PMID:26810293

  8. Tracheal Atresia with Segmental Esophageal Duplication: An Unusual Anatomic Arrangement.

    PubMed

    Gaerty, Kirsten; Thomas, Joseph T; Petersen, Scott; Tan, Edwin; Kumar, Sailesh; Gardener, Glenn; Armes, Jane

    2016-01-01

    An unusual anatomic configuration of segmental tracheal agenesis/atresia with esophageal duplication on autopsy in a fetus that demised in utero at 29 weeks is reported. The mother was scanned initially for a cardiac anomaly at 20 weeks and on follow-up scan at 27 weeks had polyhydramnios and underwent amnioreduction. The final autopsy diagnosis was vertebral, ano-rectal, cardiac, tracheoesophageal, renal, and limb malformations (VACTERL). We discuss the autopsy findings along with the embryological mechanisms and compare the configuration with Floyd's classification for tracheal agenesis. The difficulties in prenatal diagnosis are discussed. PMID:26367770

  9. 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

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

    PubMed Central

    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

    2014-01-01

    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 (

  11. Oesophageal atresia: Diagnosis and prognosis in Dakar, Senegal

    PubMed Central

    Fall, Mbaye; Mbaye, Papa Alassane; Horace, Haingonirina Joelle; Wellé, Ibrahima Bocar; Lo, Faty Balla; Traore, Mamadou Mour; Diop, Marie; Ndour, Oumar; Ngom, Gabriel

    2015-01-01

    Background: Oesophageal atresia is a neonatal emergency surgery whose prognosis has improved significantly in industrialised countries in recent decades. In sub-Saharan Africa, this malformation is still responsible for a high morbidity and mortality. The objective of this study was to analyse the diagnostic difficulties and its impact on the prognosis of this malformation in our work environment. Patients and Methods: We conducted a retrospective study over 4 years on 49 patients diagnosed with esophageal atresia in the 2 Paediatric Surgery Departments in Dakar. Results: The average age was 4 days (0-10 days), 50% of them had a severe pneumonopathy. The average time of surgical management was 27 h (6-96 h). In the series, we noted 10 preoperative deaths. The average age at surgery was 5.7 days with a range of 1-18 days. The surgery mortality rate is 28 patients (72%) including 4 late deaths. Conclusion: The causes of death were mainly sepsis, cardiac decompensation and anastomotic leaks. PMID:26612124

  12. 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

  13. Interventional catheterization in surgically treated patients with congenital heart disease.

    PubMed

    Friedli, B; Oberhänsli, I; Faidutti, B

    2000-12-01

    Interventional catheterization is an alternative to surgery for some congenital heart defects. For other malformations, the surgeon and the interventionist will join in an effort to obtain an optimal result: the typical example is pulmonary atresia with VSD and aortopulmonary collaterals. In other cases, the cardiologist may be called upon to intervene with catheter techniques to correct sequelae or residual lesions after surgical correction, avoiding redo surgery. Most often, the task consists of opening stenoses by balloon dilatation and/or stenting the main targets being pulmonary artery branch stenoses, venous obstructions after Mustard procedure, and recoarctations. Whereas simple balloon dilatation of recoarctation often brings good results, stents are often needed to obtain optimal results in pulmonary branch stenoses. Stenting of pulmonary veins has been disappointing. Closing unwanted vessels and defects is another task for the interventional cardiologist after cardiac surgery. Here, the most frequent procedure is closing aortopulmonary collaterals in pulmonary atresia and VSD after corrective surgery. Advantages and limitations of these procedures are discussed. PMID:11145397

  14. Hepatic portocholecystostomy for biliary atresia: a 25-year follow-up and review.

    PubMed

    Schecter, Samuel C; Courtier, Jesse; Cho, Soo-Jin; Saadai, Payam; Hirose, Shinjiro; Mackenzie, Tippi C; Miniati, Doug

    2013-01-01

    We report the successful salvage of a patient's native liver 25 years after hepatic portocholecystostomy for biliary atresia. Our case demonstrates the effectiveness of biliary specific, high-resolution CT imaging in the diagnosis of, and operative planning for complex cases of biliary obstruction. We also report the longest-term pathologic follow-up of biliary atresia after hepatic portocholecystostomy. Life-long follow-up of patients with biliary atresia is important to prevent life-threatening complications of biliary stasis/obstruction. PMID:23331828

  15. 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

  16. An optimal bronchial treemay be dangerous

    NASA Astrophysics Data System (ADS)

    Mauroy, B.; Filoche, M.; Weibel, E. R.; Sapoval, B.

    2004-02-01

    The geometry and dimensions of branched structures such as blood vessels or airways are important factors in determining the efficiency of physiological processes. It has been shown that fractal trees can be space filling and can ensure minimal dissipation. The bronchial tree of most mammalian lungs is a good example of an efficient distribution system with an approximate fractal structure. Here we present a study of the compatibility between physical optimization and physiological robustness in the design of the human bronchial tree. We show that this physical optimization is critical in the sense that small variations in the geometry can induce very large variations in the net air flux. Maximum physical efficiency therefore cannot be a sufficient criterion for the physiological design of bronchial trees. Rather, the design of bronchial trees must be provided with a safety factor and the capacity for regulating airway calibre. Paradoxically, our results suggest that bronchial malfunction related to asthma is a necessary consequence of the optimized efficiency of the tree structure.

  17. 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

  18. Bronchial hyperresponsiveness decreases through childhood.

    PubMed

    Riiser, Amund; Hovland, Vegard; Mowinckel, Petter; Carlsen, Kai-Håkon; Carlsen, Karin Lødrup

    2012-02-01

    Limited knowledge exists about development of bronchial hyperresponsiveness (BHR) through adolescence. We aimed to assess changes in and risk factors for BHR in adolescence. From a Norwegian birth cohort 517 subjects underwent clinical examinations, structured interviews and methacholine challenges at age 10 and 16. BHR was divided into four categories: no BHR (cumulative methacholine dose required to reduce FEV(1) by 20% (PD(20)) >16 μmol), borderline BHR (PD(20) ≤16 and >8 μmol), mild to moderate BHR (PD(20) ≤8 and >1 μmol), and severe BHR (PD(20) ≤ 1 μmol). Logistic regression analysis was used to assess risk factors and possible confounders. The number of children with PD(20) ≤ 8 decreased from 172 (33%) to 79 (15%) from age 10-16 (p < 0.001). Most children (n = 295, 57%) remained in the same BHR (category) from age 10-16 (50% with no BHR), whereas the majority 182 (82%) of the 222 children who changed BHR category, had decreased severity at age 16. PD(20) ≤ 8 at age 10 was the major risk factor for PD(20) ≤ 8 6 years later (odds ratio 6.3), without significant confounding effect (>25% change) of gender, active rhinitis, active asthma, height, FEV(1)/FVC, or allergic sensitization. BHR decreased overall in severity through adolescence, was stable for the majority of children and only a minority (8%) had increased BHR from age 10 to 16. Mild to moderate and severe BHR at age 10 were major risk factors for PD(20) ≤ 8 at 16 years and not modified by asthma or body size. PMID:22015380

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

    PubMed

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

    2016-04-01

    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 (123)I-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

  20. 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

  1. [Cytomorphological analysis of remodeling of the bronchial wall in different types of bronchial asthma].

    PubMed

    Gereng, E A; Sukhodolo, I V; Pleshko, R I; Ogorodova, L M; Selivanova, P A; Dziuman, A N

    2012-01-01

    The objective of the present work was to search for the tissue and cellular markers of remodeling of bronchial mucosa in the patients with different clinical forms of bronchial asthma (BA). The use of up-to-date morphometric techniques has demonstrated that mild and moderately severe forms of bronchial asthma are accompanied by the development of Th2-immune response associated with increased production of interleukin-4 and marked degranulation of eosinophilic granulocytes resulting in desquamation of epithelium and goblet cell hyperplasia. The severe BA phenotype of "chronic asthma with fixed obstruction" is associated with the development of non-atopic inflammation in the bronchial mucous membrane that manifests itself as the increased concentration of interleukin-8 in bronchial mucosa and its neutrophilic infiltration leading to the development of pronounced subepithelial fibrosis, thickening of the basal membrane, and atrophy of epithelium. Specific structural changes in bronchial mucosa of the patients presenting with BA underlie functional disturbances that cause severe bronchial obstructive syndrome. PMID:22645957

  2. Distal ureteral atresia with ureteropelvic junction obstruction in a female child: a rare case

    PubMed Central

    Wu, Shuiqing; Xu, Ran; Zhu, Xuan; Zhao, Xiaokun

    2015-01-01

    This case report describes a distal ureteral atresia along with ureteropelvic junction obstruction which occurred in a 19-month-old female child. It is easily to be misdiagnosed as mere ureteropelvic junction obstruction and omitted the combined diagnosis of distal ureteral atresia. Dismembered pyeloplasty was done in local hospital after admission, however with the result of recurrent fever when clamp the left nephrostomy tube and Antegrade urography demonstrated distal ureteral atresia. After two months, boari flap reconstruction was performed for the patient in the Second Xiangya Hospital of Central South University, and the child had good rehabilitation in the end. To our knowledge, this is the first case report on distal ureteral atresia associated with ureteropelvic junction obstruction. PMID:25785157

  3. 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

  4. Fetal lung growth in laryngeal atresia and tracheal agenesis.

    PubMed

    Scurry, J P; Adamson, T M; Cussen, L J

    1989-02-01

    Three cases of airway obstruction in fetuses born at 21, 32 and 40 weeks gestation are reported. The first had laryngeal atresia, cystic dysplastic kidneys, oligohydramnios and immense fluid-filled lungs. The second had upper tracheal agenesis, a tracheo-oesophageal fistula, a cystic dysplastic horseshoe kidney, oligohydramnios and normal-sized lungs. The third had a pin-hole mucosal tract through an otherwise atretic larynx, normal kidneys, no oligohydramnios and normal-sized lungs. Lung weight:body weight ratios, radial alveolar or radial canalicular counts and point-counting of sections of lungs in cases 1 and 2 show that laryngeal or tracheal obstruction may prevent or reduce the pulmonary hypoplasia associated with renal dysplasia, and in cases 2 and 3, that grossly enlarged, hyperplastic lungs may not be seen unless obstruction is complete. PMID:2730470

  5. 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

  6. 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 ...

  7. 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

  8. 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

  9. Posttraumatic Stress Reactions in Parents of Children Esophageal Atresia

    PubMed Central

    Le Gouëz, Morgane; Alvarez, Luis; Rousseau, Véronique; Hubert, Philippe; Abadie, Véronique; Lapillonne, Alexandre; Kermorvant-Duchemin, Elsa

    2016-01-01

    Objective The aim of this study was to investigate psychological stress in parents of children with esophageal atresia and to explore factors associated with the development of Posttraumatic Stress disorder (PTSD). Design Self-report questionnaires were administered to parents of children with EA. Domains included: (1) sociodemographic data, current personal difficulties, assessment scales for the quality of life and for the global health status of the child (2) French-validated versions of the Perinatal Posttraumatic Stress disorder Questionnaire and of the State-Trait Anxiety Inventory. Associations between PTSD and severity of the neonatal course, presence of severe sequelae at 2 years of age, and quality of life and global health status of children according to their parents’ perception were studied. Setting A Tertiary care University Hospital Results Among 64 eligible families, 54 parents of 38 children (59%) participated to the study. PTSD was present in 32 (59%) parents; mothers were more frequently affected than fathers (69 vs 46%, p = 0.03). Four mothers (8%) had severe anxiety. PTSD was neither associated with neonatal severity nor with severe sequelae at 2 years. Parents with PTSD rated their child’s quality of life and global health status significantly lower (7.5 vs 8.6; p = 0.01 and 7.4 vs 8.3; p = 0.02 respectively). Conclusions PTSD is frequent in parents of children with esophageal atresia, independently of neonatal severity and presence of severe sequelae at 2 years of age. Our results highlight the need for a long-term psychological support of families. PMID:26953589

  10. Use of Pulmonary Hypertension Medications in Patients with Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collaterals.

    PubMed

    Grant, Elena K; Berger, John T

    2016-02-01

    Tetralogy of Fallot (TOF) with pulmonary atresia (PA) and multiple aortopulmonary collaterals (MAPCAs) is a rare and severe form of congenital heart disease with poor prognosis. Aortopulmonary collaterals expose pulmonary arterioles to systemic pressure resulting in pulmonary hypertension (PH). To date, reports regarding the role of PH medications in this population are sparse. The objective of this study was to assess the effect of PH medications in patients with TOF, PA and MAPCAs or similar anatomy, with emphasis on symptoms, echocardiography and invasive hemodynamics. A retrospective review was performed for patients at a single tertiary care pediatric center. Twelve of 66 patients were treated with PH medications (18 %), and eight of these patients had adequate follow-up for further analysis. Median age at last follow-up was 6 years (range 1.4-21 years). Median length of therapy with PH medication was 4 years (range 0.3-17 years). PH medications included sildenafil, bosentan, ambrisentan, inhaled treprostinil and prostacyclin infusion. PH therapy was associated with improvement in symptoms in all patients and improvement in PH by hemodynamic measures in the majority of patients. All patients underwent at least one cardiac intervention by catheterization or surgery while taking PH medication. Two patients died from non-PH-related causes. The remaining six patients are alive and remain on PH medication. This review indicates that PH medications are well tolerated by this patient group and provide symptomatic improvement. Further studies are required to determine whether PH medications provide long-term survival benefit for patients with complex congenital heart disease. PMID:26511384

  11. Alternations in genes expression of pathway signaling in esophageal tissue with atresia: results of expression microarray profiling.

    PubMed

    Smigiel, R; Lebioda, A; Blaszczyński, M; Korecka, K; Czauderna, P; Korlacki, W; Jakubiak, A; Bednarczyk, D; Maciejewski, H; Wizinska, P; Sasiadek, M M; Patkowski, D

    2015-04-01

    Esophageal atresia (EA) is a congenital defect of the esophagus involving the interruption of the esophagus with or without connection to the trachea (tracheoesophageal fistula [TEF]). EA/TEF may occur as an isolated anomaly, may be part of a complex of congenital defects (syndromic), or may develop within the context of a known syndrome or association. The molecular mechanisms underlying the development of EA are poorly understood. It is supposed that a combination of multigenic factors and epigenetic modification of genes play a role in its etiology. The aim of our work was to assess the human gene expression microarray study in esophageal tissue samples. Total RNA was extracted from 26 lower pouches of esophageal tissue collected during thoracoscopic EA repair in neonates with the isolated (IEA) and the syndromic form (SEA). We identified 787 downregulated and 841 upregulated transcripts between SEA and controls, and about 817 downregulated and 765 upregulated probes between IEA and controls. Fifty percent of these genes showed differential expression specific for either IEA or SEA. Functional pathway analysis revealed substantial enrichment for Wnt and Sonic hedgehog, as well as cytokine and chemokine signaling pathways. Moreover, we performed reverse transcription polymerase chain reaction study in a group of SHH and Wnt pathways genes with differential expression in microarray profiling to confirm the microarray expression results. We verified the altered expression in SFRP2 gene from the Wnt pathway as well as SHH, GLI1, GLI2, and GLI3 from the Sonic hedgehog pathway. The results suggest an important role of these pathways and genes for EA/TEF etiology. PMID:24460849

  12. Bronchial cancer - chest x-ray (image)

    MedlinePlus

    This is a chest x-ray of a person with bronchial cancer. This is a front view. The lungs are the two dark ... white areas visible in the middle of the chest. The light areas that appear as subtle branches ...

  13. [Skin metastases revealing a bronchial adenocarcinoma].

    PubMed

    Zemmez, Youssef; Zegmout, Adil; Hamama, Jalal; Bouhamidi, Ahmed; El Amraoui, Mohammed; El Azhari, Jaouad; Boui, Mohamed

    2016-01-01

    We report the case of bronchial carcinoma revealed by metastatic skin nodules on the scalp. This fairly common mode of discovery is often associated with poor prognosis. This study aims to underline the importance of directing the search for a primary lung cancer in cases of secondary skin involvement. PMID:27583066

  14. Giant congenital nevus

    MedlinePlus

    A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... A nevus will appear as a dark-colored patch with any of the ... Hair Regular or uneven borders Smaller affected areas near the ...

  15. 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 ...

  16. 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.

  17. miR-26b Promotes Granulosa Cell Apoptosis by Targeting ATM during Follicular Atresia in Porcine Ovary

    PubMed Central

    Lin, Fei; Li, Ran; Pan, Zeng xiang; Zhou, Bo; Yu, De bing; Wang, Xu guang; Ma, Xue shan; Han, Jing; Shen, Ming; Liu, Hong lin

    2012-01-01

    More than 99% of ovarian follicles undergo atresia in mammals, but the mechanism of follicular atresia remains to be elucidated. In this study, we explored microRNA (miRNA) regulation of follicular atresia in porcine ovary. A miRNA expression profile was constructed for healthy, early atretic, and progressively atretic follicles, and the differentially expressed miRNAs were selected and analyzed. We found that miR-26b, which was upregulated during follicular atresia, increased the number of DNA breaks and promoted granulosa cell apoptosis by targeting the ataxia telangiectasia mutated gene directly in vitro. PMID:22737216

  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. Congenital myasthenia gravis.

    PubMed

    Nizamani, Noor Bakht; Talpur, Khalid Iqbal; Memon, Mariya Nazish

    2013-07-01

    Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed the diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis. PMID:23823963

  20. Irritant exposure, bronchial reactivity and asthma.

    PubMed

    Gordon, S B; Morice, A H

    1997-10-01

    The role of irritant exposure in the pathogenesis of bronchial reactivity and asthma is uncertain. This paper reviews the evidence from environmental epidemiological surveys, studies of occupationally exposed populations and chamber studies of asthmatic and nonasthmatic subjects exposed to irritant fumes. The reactive airways dysfunction syndrome and occupational asthma due to irritant exposure are considered in the context of these results. Although several irritants cause acute bronchoconstriction by a number of mechanisms in chamber studies, there is little convincing evidence to suggest that irritant exposure without pulmonary injury is a risk factor for the development of bronchial hyperresponsiveness. This is the case both in relatively intense concentrations, such as those experienced in industrial or chamber exposure, and at the levels experienced by the general population. PMID:9510667

  1. Immediate primary anastomosis for isolated oesophageal atresia: A single-centre experience

    PubMed Central

    Uygun, Ibrahim; Zeytun, Hikmet; Otcu, Selcuk

    2015-01-01

    Background: Isolated oesophageal atresia without tracheo-oesophageal fistula represents a major challenge for most paediatric surgeons. Here, we present our experience with six neonates with isolated oesophageal atresia who successfully underwent immediate primary anastomosis using multiple Livaditis circular myotomy. Materials and Methods: All six neonates were gross type A isolated oesophageal atresia (6%), from among 102 neonates with oesophageal atresia, treated between January 2009 and December 2013. Five neonates were female; one was male. The mean birth weight was 2300 (range 1700-3100) g. Results: All six neonates successfully underwent immediate primary anastomosis using multiple myotomies (mean 3; range 2-4) within 10 (median 3) days after birth. The gap under traction ranged from 6 to 7 cm. One neonate died of a major cardiac anomaly. Another neonate was lost to follow-up after being well for 3 months. Three anastomotic strictures were treated with balloon dilatation, and four anastomotic leaks were treated conservatively. The mean duration of follow-up was 33 months. Conclusions: To treat isolated oesophageal atresia, an immediate primary anastomosis can be achieved using multiple myotomies. Although, this approach is associated with high complication rates, as are other similar approaches, these complications can be overcome. PMID:26712295

  2. [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

  3. 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

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

    PubMed Central

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

    2015-01-01

    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

  5. Identifying, characterizing, and classifying congenital anomalies of the coronary arteries.

    PubMed

    Shriki, Jabi E; Shinbane, Jerold S; Rashid, Mollie A; Hindoyan, Antereas; Withey, James G; DeFrance, Anthony; Cunningham, Mark; Oliveira, George R; Warren, Bill H; Wilcox, Alison

    2012-01-01

    The clinical manifestations of coronary artery anomalies vary in severity, with some anomalies causing severe symptoms and cardiovascular sequelae and others being benign. Cardiovascular computed tomography (CT) has emerged as the standard of reference for identification and characterization of coronary artery anomalies. Therefore, it is important for the reader of cardiovascular CT images to be thoroughly familiar with the spectrum of coronary artery anomalies. Hemodynamically significant anomalies include atresia, origin from the pulmonary artery, interarterial course, and congenital fistula. Non-hemodynamically significant anomalies include duplication; high origin; a prepulmonic, transseptal, or retroaortic course; shepherd's crook right coronary artery; and systemic termination. In general, coronary arteries with an interarterial course are associated with an increased risk of sudden cardiac death. Coronary artery anomalies that result in shunting, including congenital fistula and origin from the pulmonary artery, are also commonly symptomatic and may cause steal of blood from the myocardium. Radiologists should be familiar with each specific variant and its specific constellation of potential implications. PMID:22411942

  6. Mediastinitis and Bronchial Perforations Due to Mucormycosis.

    PubMed

    Dhooria, Sahajal; Agarwal, Ritesh; Chakrabarti, Arunaloke

    2015-10-01

    Diabetes mellitus is the most common predisposing condition for mucormycosis, which is emerging as an important invasive fungal infection worldwide. Isolated mediastinitis is a very rare presentation of mucormycosis. A 57-year-old woman with uncontrolled type 2 diabetes mellitus and ketoacidosis presented with septic shock and was subsequently found to have mucor mediastinitis with multiple bronchial perforations. The organism was identified as Rhizopus oryzae with the help of DNA sequencing. PMID:26348693

  7. 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

  8. [Human papillomavirus, neonatal giant cell hepatitis and biliary duct atresia].

    PubMed

    Drut, R; Gómez, M A; Drut, R M; Cueto, R E; Lojo, M

    1998-01-01

    We previously recognized the presence of HPV-DNA in cases of idiopathic neonatal giant cell hepatitis (INGCH) and extrahepatic biliary duct atresia (EBDA) in archivated tissue using the PCR technique. In order to investigate a possible vertical transmission we looked for the presence of HPV-DNA in cervical swabs in the mothers along with formalin-fixed paraffin-embedded hepatic tissue from 3 infants with INGCH and 4 patients with EBDA by nested-PCR. Cervical smears showed koilocytosis consistent with HPV infection in 2 cases. Delivery was vaginal except for one that was by cesarean section. All infants were males. Amplification of HPV-DNA was demonstrated in all cases, the types being concordant in infants and mothers. Although this is a small group, the findings appear in line with previous data. The presence of the same type of HPV-DNA in the infants' livers and their mothers' cervical swabs is another argument supporting the possibility of vertical transmission of the virus. PMID:9607071

  9. 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.

  10. Identification of a plant isoflavonoid that causes biliary atresia.

    PubMed

    Lorent, Kristin; Gong, Weilong; Koo, Kyung A; Waisbourd-Zinman, Orith; Karjoo, Sara; Zhao, Xiao; Sealy, Ian; Kettleborough, Ross N; Stemple, Derek L; Windsor, Peter A; Whittaker, Stephen J; Porter, John R; Wells, Rebecca G; Pack, Michael

    2015-05-01

    Biliary atresia (BA) is a rapidly progressive and destructive fibrotic disorder of unknown etiology affecting the extrahepatic biliary tree of neonates. Epidemiological studies suggest that an environmental factor, such as a virus or toxin, is the cause of the disease, although none have been definitively established. Several naturally occurring outbreaks of BA in Australian livestock have been associated with the ingestion of unusual plants by pregnant animals during drought conditions. We used a biliary secretion assay in zebrafish to isolate a previously undescribed isoflavonoid, biliatresone, from Dysphania species implicated in a recent BA outbreak. This compound caused selective destruction of the extrahepatic, but not intrahepatic, biliary system of larval zebrafish. A mutation that enhanced biliatresone toxicity mapped to a region of the zebrafish genome that has conserved synteny with an established human BA susceptibility locus. The toxin also caused loss of cilia in neonatal mouse extrahepatic cholangiocytes in culture and disrupted cell polarity and monolayer integrity in cholangiocyte spheroids. Together, these findings provide direct evidence that BA could be initiated by perinatal exposure to an environmental toxin. PMID:25947162

  11. Laparoscopic cystojejunostomy for type I cystic biliary atresia in children

    PubMed Central

    Faure, Alice; Hery, Géraldine; Colavolpe, Nathalie; Bevilacqua, Clemence; Guys, Jean-Michel; De Lagausie, Pascal

    2015-01-01

    PURPOSE: The use of laparoscopy in the treatment of biliary atresia (BA) is still debated. We report our strategy using laparoscopy in type I cystic BA. MATERIALS AND METHODS: We reviewed the records of patients treated for BA from 2002-2013. When the diagnosis was suspected, an ultrasound was performed. If it showed a cyst > 5 mm in the hilum with no patent gallbladder, we performed an initial explorative laparoscopy. In the case of a patent biliary tree above the cyst, a laparoscopic cystojejunostomy was performed. In cases of absent communication (type III), conversion and portoenterostomy were performed. Pre and postoperative data and overall survival rate with the native liver were reviewed. RESULTS: Forty-four children were treated for BA. Six presented with a cystic form diagnosed by US. Three children had type I BA; three had type III BA. No postoperative complications were noted. Median follow-up was 62.2 months (22.7-93.5). One patient died of a cardiac malformation. The five remaining patients are alive with their native liver. Of the 38 treated for noncystic BA, 16 were transplanted. CONCLUSION: We confirmed the prognosis of cystic BA, which is less severe than noncystic BA. Our strategy using laparoscopy allowed for the confirmation and qualification of the type of BA. In type I, complete treatment by laparoscopy has been performed safely. PMID:26622117

  12. Identification of a plant isoflavonoid that causes biliary atresia

    PubMed Central

    Lorent, Kristin; Gong, Weilong; Koo, Kyung A.; Waisbourd-Zinman, Orith; Karjoo, Sara; Zhao, Xiao; Sealy, Ian; Kettleborough, Ross N.; Stemple, Derek L.; Windsor, Peter A.; Whittaker, Stephen J.; Porter, John R.; Wells, Rebecca G.; Pack, Michael

    2016-01-01

    Biliary atresia (BA) is a rapidly progressive and destructive fibrotic disorder of unknown etiology affecting the extrahepatic biliary tree of neonates. Epidemiological studies suggest that an environmental factor, such as a virus or toxin, is the cause of the disease, although none have been definitively established. Several naturally occurring outbreaks of BA in Australian livestock have been associated with the ingestion of unusual plants by pregnant animals during drought conditions. We used a biliary secretion assay in zebrafish to isolate a previously undescribed isoflavonoid, biliatresone, from Dysphania species implicated in a recent BA outbreak. This compound caused selective destruction of the extrahepatic, but not intrahepatic, biliary system of larval zebrafish. A mutation that enhanced biliatresone toxicity mapped to a region of the zebrafish genome that has conserved synteny with an established human BA susceptibility locus. The toxin also caused loss of cilia in neonatal mouse extrahepatic cholangiocytes in culture and disrupted cell polarity and monolayer integrity in cholangiocyte spheroids. Together, these findings provide direct evidence that BA could be initiated by perinatal exposure to an environmental toxin. PMID:25947162

  13. 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: ...

  14. 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 ...

  15. 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 ...

  16. 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.

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

    PubMed Central

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

    2012-01-01

    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. PMID:23000595

  18. A rare case of bilateral bronchial foreign body

    PubMed Central

    Zhao, ZhiGang; Gao, Qian; Song, PengLong

    2015-01-01

    We present the case of a 7-year-old male patient with bilateral bronchial cocklebur fruit aspiration, which he sustained while playing. The patient presented with a triad of cough, wheezing, and decreased breath sounds (decreased in the right lung and absent in the left). These symptoms led to a diagnosis of bilateral bronchial foreign body, which was confirmed by computed tomography three-dimensional reconstruction of the bronchial tree. The patient was on the verge of death during operation but was ultimately rescued. Our therapeutic experience in treating this case of bilateral bronchial cocklebur fruit aspiration may provide a good reference for others. PMID:26101515

  19. 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

  20. Rectal atresia-operative management with endoscopy and transanal approach: a case report.

    PubMed

    Stenström, Pernilla; Clementson Kockum, Christina; Arnbjörnsson, Einar

    2011-01-01

    The aim of this study is to present the technique and outcome of the management of a newborn child with rectal atresia. A girl born with rectal atresia was diagnosed during physical examination and confirmed with X-ray. The anatomic appearance of the external anus, and lower pelvis was normal. The rectal ending was located 2 cm cranial from the anus and the distance between the rectal endings was 2 cm. A colostomy was established. At the age of five months the child was operated on with a rectal anastomosis using the endoscopic and transanal approach. Closure of the colostomy was performed at the age of ten months. The rectal anastomosis was treated with rectal dilatation weekly in order to avoid stricture. The patient was faecally continent at followup one and three months postoperatively. In conclusion, the endoscopic and transanal approach is an alternative to other surgical techniques in the management of rectal atresia. PMID:22091364

  1. 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

  2. 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.

  3. Hybrid intraoperative pulmonary artery stenting in redo congenital cardiac surgeries

    PubMed Central

    Sridhar, Anuradha; Subramanyan, Raghavan; Premsekar, Rajasekaran; Chidambaram, Shanthi; Agarwal, Ravi; Manohar, Soman Rema Krishna; Cherian, K.M.

    2014-01-01

    Objective Reconstruction of branch pulmonary arteries (PAs) can be challenging in redo congenital heart surgeries. Treatment options like percutaneous stent implantation and surgical patch angioplasty may yield suboptimal results. We present our experience with hybrid intraoperative stenting which may be an effective alternative option. Methods We retrospectively analyzed data of all patients with PA stenosis who underwent intraoperative PA branch stenting in our institution between January 2011 and December 2012. Results Ten patients [6 females, median age 10 (1.4 to 37) years], underwent hybrid stenting of the PA. Primary cardiac diagnoses were pulmonary atresia with ventricular septal defect (VSD) in three patients, pulmonary atresia with intact ventricular septum in two, Tetralogy of Fallot (TOF) in one, Double outlet right ventricle (DORV) with pulmonary stenosis (PS) in one, complex single ventricle in two and VSD with bilateral branch PA stenosis in one patient. Concomitant surgeries were revision/reconstruction of RV-PA conduit in 4, Fontan completion in 4, repair of TOF with conduit placement in 1 and VSD closure in 1 patient. The left PA was stented in 7, the right in 2 and both in 1, with a total of 11 stents. There were no complications related to stent implantation. Two early postoperative deaths were unrelated to stent implantation. At mean follow-up period of 14.8 (12–26) months, stent position and patency were satisfactory in all survivors. None of them needed repeat dilatation or surgical reintervention. Conclusion Hybrid stenting of branch PA is a safe and effective option for PA reconstruction in redo cardiac surgeries. With meticulous planning, it can be safely performed without fluoroscopy. PMID:24581095

  4. [Computerized tomography of the organs of the small pelvis in children with anorectal atresia].

    PubMed

    Sitkovskiĭ, N B; Babiĭ, Ia S; Kaplan, V M; Dan'shin, T I; Sil'chenko, M I; Bodnar', V V; Gbenu, A S

    1992-01-01

    In 12 children with the different forms of anorectal atresia, for studying the state of a sphincter apparatus of the rectum and assessment of quality of its bringing down into the perineum after proctoplasty, computerized tomography of the organs of a small pelvis was used. Underdeveloped and undifferentiated musculus levator ani in children with high anorectal atresia and fistula to the urinary bladder was revealed. The method permits to establish exact location of the intestine brought down relative to musculus levator ani and external anal sphincter. PMID:1518247

  5. Bronchial wall region extraction algorithm using multi-slice CT images

    NASA Astrophysics Data System (ADS)

    Akashi, Kengo; Saita, Shinsuke; Kubo, Mitsuru; Kawata, Yoshiki; Niki, Noboru; Nakano, Yasutaka; Niimi, Akio; Matsumoto, Hisako; Oguma, Tsuyoshi; Takiguchi, Yuichi; Kawata, Naoko; Tanabe, Nobuhiro; Ohmatsu, Hironobu; Eguchi, Kenji; Kaneko, Masahiro; Moriyama, Noriyuki

    2009-02-01

    As multi-slice CT develops, there are great expectations for an automatic and computer-support diagnoses. This research is on bronchial area which is composed of the bronchial wall regions and the air regions in the internal bronchial tube. Since to diagnose this is difficult, support diagnosis using CT images is desired. The thickness of bronchial wall changes as the airway of early lung cancer, bronchial asthma and the bronchial enhancing syndrome and others change into a malignant state. These changes are detected and the thickness of bronchial wall becomes important information. In this research, the extraction accuracy of the algorithm for bronchial wall evaluation is good.

  6. 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

  7. 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. PMID:27043388

  8. 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

  9. 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: ...

  10. Congenital heart defect - corrective surgery

    MedlinePlus

    ... born with one or more heart defects has congenital heart disease . Surgery is needed if the defect could harm ... 2008 Guidelines for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/ ...

  11. Impact of Congenital Heart Defects

    MedlinePlus

    ... complex lesions, limitations are common. Some children with congenital heart disease have developmental delay or other learning difficulties. What ... defects? Successful treatment requires highly specialized care. Severe congenital heart disease requires extensive financial resources both in and out ...

  12. 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.

  13. Cytokine production by cell cultures from bronchial subepithelial myofibroblasts.

    PubMed

    Zhang, S; Howarth, P H; Roche, W R

    1996-09-01

    Myofibroblasts have been previously described beneath the bronchial epithelium and were found to increase in number proportional to the accumulation of extracellular matrix in the bronchial lamina reticularis in asthma. The aim of this study was to assess further the contribution of these structural cells to allergic inflammation in the bronchial mucosa through their cytokine expression. Cell cultures were established from the lamina reticularis of human bronchial biopsies from asthmatic and non-asthmatic subjects. Cytokine secretion was measured by ELISA in supernatants of cultures with or without tumour necrosis factor-alpha (TNF-alpha). The mRNA levels for granulocyte-macrophage colony-stimulating factor (GM-CSF) in the cultures were examined by ribonuclease protection assays (RPAs). Bronchial myofibroblasts grown from bronchial biopsies were capable of producing GM-CSF, interleukin-6 (IL-6), interleukin-8 (IL-8), and stem cell factor (SCF) constitutively. The GM-CSF production by myofibroblasts was significantly increased in response to TNF-alpha simulation with a corresponding increase in GM-CSF mRNA expression. The enhancement of GM-CSF production by TNF-alpha in myofibroblasts was blocked by the inhibition of RNA synthesis. Prednisolone abolished the GM-CSF production. This study provides evidence for the role of bronchial myofibroblasts in the regulation of inflammatory cell recruitment and activation by interaction in the cytokine network in the bronchial mucosa. PMID:8943823

  14. Endocrine and metabolic disordes in bronchial carcinoma.

    PubMed

    Azzopardi, J G; Freeman, E; Poole, G

    1970-11-28

    In an unselected series of 185 patients with histologically confirmed bronchial carcinoma 16 had endocrine disturbances attributable to the tumour (excluding pulmonary osteoarthropathy). Of these, 11 patients had hypercalcaemia; three inappropriate secretion of antidiuretic hormone; one Cushing's disease; three hypertrophic osteoarthropathy; and one gynaecomastia. Cushing's disease and inappropriate antidiuresis are specifically associated with oat-cell tumours, and hypercalcaemia occurs most frequently with squamous carcinoma. A negative correlation exists between gynaecomastia and osteoarthropathy on the one hand and oat-cell carcinoma on the other. PMID:5483322

  15. 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

  16. 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

  17. 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

  18. 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

  19. Congenital hyperinsulinism with hyperammonaemia

    PubMed Central

    Pschibul, Alex; Müller, Jörg; Fahnenstich, Hubert

    2010-01-01

    Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia. Metabolic workup revealed hyperinsulinism combined with mild hyperammonaemia as well as elevation of α-ketoglutarate in urine. Genetic testing demonstrated a de novo mutation in exon 7 of the glutamate dehydrogenase gene on chromosome 10. Episodes of hypoglycaemia responded to treatment with diazoxide. The differential diagnosis, pathophysiology and treatment of congenital hyperinsulinism is discussed. PMID:22315648

  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. Congenital midline nasofrontal masses.

    PubMed

    Saettele, Megan; Alexander, Alan; Markovich, Brian; Morelli, John; Lowe, Lisa H

    2012-09-01

    Congenital midline nasal masses are uncommon anomalies including nasal dermoids/epidermoids, nasal glial heterotopias and encephaloceles. These lesions can occur at the nasal bridge, extend intranasally and have intracranial extension with communication to the subarachnoid space. Therefore, accurate diagnosis of these lesions is critically important for presurgical planning and prevention of potentially fatal complications. Neuroimaging is essential in the evaluation of congenital midline nasal masses to identify the specific type of lesion, evaluate for the presence of intracranial extension and allow for appropriate presurgical planning. PMID:22648391

  2. 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. PMID:24205484

  3. 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

  4. ORGANIZATION OF THE OVARIAN FOLLICLE AND EVENTS IN BIOLOGY: OOGENESIS, OVULATION, OR ATRESIA

    EPA Science Inventory

    This report presents an overview of the biology of oogenesis, ovulation and atresia. n humans, oogenesis commences during the late embryonic and early fetal periods. rimitive germ cells migrate from the yolk sac, establish residency in the developing ovary and give rise to oogoni...

  5. 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

  6. Expression and preliminary functional profiling of the let-7 family during porcine ovary follicle atresia.

    PubMed

    Cao, Rui; Wu, Wang Jun; Zhou, Xiao Long; Xiao, Peng; Wang, Yi; Liu, Hong Lin

    2015-04-01

    Most follicles in the mammalian ovary undergo atresia. Granulosa cell apoptosis is a hallmark of follicle atresia. Our previous study using a microRNA (miRNA) microarray showed that the let-7 microRNA family was differentially expressed during follicular atresia. However, whether the let-7 miRNA family members are related to porcine (Sus scrofa) ovary follicular apoptosis is unclear. In the current study, real-time quantitative polymerase chain reaction showed that the expression levels of let-7 family members in follicles and granulosa cells were similar to our microarray data, in which miRNAs let-7a, let-7b, let-7c, and let-7i were significantly decreased in early atretic and progressively atretic porcine ovary follicles compared with healthy follicles, while let-7g was highly expressed during follicle atresia. Furthermore, flow cytometric analysis and Hoechst33342 staining demonstrated that let-7g increased the apoptotic rate of cultured granulosa cells. In addition, let-7 target genes were predicted and annotated by TargetScan, PicTar, gene ontology and Kyoto encyclopedia of genes and genomes pathways. Our data provide new insight into the association between the let-7 miRNA family in granulosa cell programmed death. PMID:25824548

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

    PubMed Central

    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

  8. 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

  9. [Psychosomatic Aspects of Bronchial Asthma in Children].

    PubMed

    Krivonogova, T S; Shemyakina, T A; Babikova, Yu A; Gavrilova, A N

    2015-01-01

    Bronchial asthma is the most common chronic disease in children affecting 30% of the child population. The purpose of this review was to analyze and summarize the works offoreign and Russian authors who evaluated the impact of mental disorders on the course of asthma in children. The article presents the definition of asthma as a psychosomatic disease and relevance of the study against this background. The authors adduce the results of research studies which allow us to estimate the interaction between the degree of anxiety, accentuation of the nature, severity of asthma, and the duration of the disease. The existing publications demonstrate that the researchers' opinions are polarized regarding the cause-and-effect relationship between psychological disorders and controlled asthma. The authors came to a conclusion that early detection ofpsychopathological symptoms and appropriate psychotherapeutic administration would improve the efficacy of treatment in children with bronchial asthma and the social adaptation, adjust the system offamily relations, and have a positive effect on the course of the disease. PMID:26846074

  10. [Bronchial parameters in inhabitants from the North].

    PubMed

    Shishkin, G S; Goncharov, V V; Valitskaia, R I; Valitskiĭ, Iu N; Ustiuzhaninova, N V

    2001-01-01

    The number of branches in the bronchial tree as a whole and in each generation was calculated on corrosion preparations of the right lung in 16 male inhabitants of Novosibirsk and Magadan. Diameters and lengths of a trachea, main, lobar, segmentary and subsegmentary bronchi, interlobular, lobular and terminal bronchioles were determined. The parameters of the 9 first generations were measured completely while those of distal airways--by 15% occasional choice. In both groups the number of branches in the generation was established to grow proportionally to generation number growth and then to decrease due to asymmetry of branches and termination of the part of them at the level of terminal bronchiole. In Magadan inhabitants bronchial tree was longer and wider. The anatomical dead space was 1.6 fold larger in North inhabitants than in that of Novosibirsk. Comparison to physiological data shows that in Novosibirsk inhabitants anatomic dead space makes 27% of respiratory volume, while in that of Magadan--34%. As a result the volume of the air inhaled in North inhabitants which is blended in airways is greater than in Western Siberia people. PMID:11534145

  11. Quantitative architectural analysis of bronchial intraepithelial neoplasia

    NASA Astrophysics Data System (ADS)

    Guillaud, Martial; MacAulay, Calum E.; Le Riche, Jean C.; Dawe, Chris; Korbelik, Jagoda; Lam, Stephen

    2000-04-01

    Considerable variation exists among pathologist in the interpretation of intraepithelial neoplasia making it difficult to determine the natural history of these lesion and to establish management guidelines for chemoprevention. The aim of the study is to evaluate architectural features of pre-neoplastic progression in lung cancer, and to search for a correlation between architectural index and conventional pathology. Quantitative architectural analysis was performed on a series of normal lung biopsies and Carcinoma In Situ (CIS). Centers of gravity of the nuclei within a pre-defined region of interest were used as seeds to generate a Voronoi Diagram. About 30 features derived from the Voronoi diagram, its dual the Delaunay tessellation, and the Minimum Spanning Tree were extracted. A discriminant analysis was performed to separate between the two groups. The architectural Index was calculated for each of the bronchial biopsies that were interpreted as hyperplasia, metaplasia, mild, moderate or severe dysplasia by conventional histopathology criteria. As a group, lesions classified as CIS by conventional histopathology criteria could be distinguished from dysplasia using the architectural Index. Metaplasia was distinct from hyperplasia and hyperplasia from normal. There was overlap between severe and moderate dysplasia but mild dysplasia could be distinguished form moderate dysplasia. Bronchial intraepithelial neoplastic lesions can be degraded objectively by architectural features. Combination of architectural features and nuclear morphometric features may improve the quantitation of the changes occurring during the intra-epithelial neoplastic process.

  12. 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

  13. 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

  14. 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

  15. Congenital alopecia universalis.

    PubMed

    Saraswat, P K; Laha, N N

    1989-09-01

    A case of congenital alopecia universalis without any other ectodermal defect and mental abnormality is described in a girl of eight years. There was no family history in any of the members. The child was born of a non-consanguineous marriage. PMID:2632563

  16. OPERATION FOR CONGENITAL CATARACT

    PubMed Central

    Barkan, Otto

    1949-01-01

    The traditional treatment of needling or discission of congenital cataract or membrane is open to many serious objections. Removal of the cataract by a modified form of linear extraction is recommended. The technique, with recent improvements which further assure extraction without hazard in early infancy, is described. PMID:18125222

  17. 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 ...

  18. 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

  19. Dual isotope stress testing in congenital atresia of left coronary ostium. Applications before and after surgical treatment.

    PubMed Central

    Dymond, D; Camm, J; Stone, D; Rees, S; Rees, G; Spurrell, R

    1980-01-01

    A 38-year-old women presented with an 11-year history of angina pectoris. Coronary arteriography disclosed a large right coronary artery which filled the entire left coronary tree retrogradely. The left main coronary artery ended blindly and was not connected to the aortic root. There were no atherosclerotic lesions in any vessel. Exercise thallium-20l scintigrams showed a perfusion defect in the anterior region of the left ventricle and exercise first pass radionuclide ventriculography showed anterior hypokinesis of the left ventricle with an ejection fraction of 54 per cent, compared with 60 per cent at rest. An aortocoronary saphenous vein graft was constructed to the left coronary artery. Four months after operation the patient is free from symptoms. Repeat thallium scintigrams were normal. Exercise radionuclide ventriculography after operation disclosed no wall motion abnormality, and ejection fraction on exercise was 70 per cent. The mechanism of angina in this patient is unclear but may have been related to the abnormal timing of delivery of blood to the left ventricular myocardium. Dual radionuclide stress testing showed abnormalities after operation. This non-invasive approach may be useful in the assessment of the physiological significance of coronary anomalies and of the value of corrective surgery. Images PMID:7437174

  20. 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

  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. Definitive exclusion of biliary atresia in infants with cholestatic jaundice: the role of percutaneous cholecysto-cholangiography.

    PubMed

    Nwomeh, Benedict C; Caniano, Donna A; Hogan, Mark

    2007-09-01

    Definitive exclusion of biliary atresia in the infant with cholestatic jaundice usually requires operative cholangiography. This approach suffers from the disadvantage that sick infants are subjected to a time-consuming and potentially negative surgical exploration. The purpose of this study was to determine if percutaneous cholecystocholangiography (PCC) prevents unnecessary laparotomy in infants whose cholestasis is caused by diseases other than biliary atresia. This study is a 10 year retrospective review of all infants with persistent direct hyperbilirubinemia and inconclusive biliary nuclear scans who underwent further evaluation for suspected biliary atresia. A gallbladder ultrasound (US) was obtained in all patients. When the gallbladder was visualized, further imaging by PCC was done under intravenous sedation; otherwise, the standard operative cholangiogram (OCG) was performed, with liver biopsy as indicated. The primary outcome was the diagnostic accuracy of PCC, especially with respect to preventing a laparotomy. There were 35 infants with suspected biliary atresia, with a mean age of 8 weeks (range 1-14 weeks). Nine infants whose gallbladder was visualized by ultrasound underwent PCC that definitively excluded biliary atresia. Of this group, the most frequent diagnosis (five patients) was total parenteral nutrition-associated cholestasis. The other 26 infants with absent or decompressed gallbladder had laparotomy and OCG, which identified biliary atresia in 16 patients (61%). Laparotomy was avoided in all 9 patients who underwent PCC, thus reducing the negative laparotomy rate by 47%. There were no complications associated with PCC. Several alternative techniques to operative cholangiogram have been described for the definitive exclusion of biliary atresia, but many of these have distinct drawbacks. Advances in interventional radiology techniques have permitted safe percutaneous contrast evaluation of the biliary tree. Identification of a normal gall

  3. [Bronchial asthma - many types, different therapies].

    PubMed

    Bergmann, Karl-Christian

    2016-05-01

    Around 9 % of the German population is affected by bronchial asthma. This serious problem diminishes the quality of life as well as performance of the patients. Triggers and individual courses of the illness are very diverse. Therapy for mild asthma (stage 1 and 2) can take place at the patient's general practitioner. Is the effect of the medication insufficient, the patient should be referred to a specialist. The aim of the therapy is controlled asthma without symptoms during day or night and patients who only rarely need medication on demand and who are not limited in their daily activities. With the help of three further escalation steps in medication including modern biologicals, specialists have extended possibilities to reach a controlled disease stage. PMID:27176061

  4. Bronchial pleomorphic adenoma coexisting with lung cancer.

    PubMed

    Goto, Taichiro; Maeshima, Arafumi; Akanabe, Kumi; Hamaguchi, Reo; Wakaki, Misa; Oyamada, Yoshitaka; Kato, Ryoichi

    2011-01-01

    Pleomorphic adenoma usually occurs in the salivary glands but rarely in the trachea or bronchi. A 71-year-old man had abnormal shadows on a chest X-ray. Chest CT revealed one tumor in the right basal segment of the lung and another, in the left main bronchus. Bronchoscopic biopsy of the right tumor revealed well-differentiated squamous cell carcinoma. Right lower lobectomy and lymph node dissection were performed (pT2N0M0, stage IB). At the orifice of the left main bronchus, bronchoscopy identified a polypoid lesion nearly obstructing the airway. The lesion was resected with hot snare ablation. The histological examination revealed a mixture of epithelial and myxoid mesenchymal elements, characterized by ductal structures, squamous metaplasia, and cartilage tissue. The diagnosis was bronchial pleomorphic adenoma coexisting with squamous cell carcinoma of the lung. PMID:21597416

  5. Ectrodactyly ectodermal dysplasia clefting (EEC) syndrome: a rare cause of congenital lacrimal anomalies.

    PubMed

    Elmann, Solly; Hanson, Sarah A; Bunce, Christopher N; Shinder, Roman

    2015-01-01

    A 9-year-old girl with a medical history significant for ectrodactyly ectodermal dysplasia clefting (EEC) syndrome was referred for evaluation of congenital left-sided epiphora. The patient had undergone successful right external dacryocystorhinostomy at age 5 to treat congenital right-sided epiphora. On examination, several ocular anomalies were noted, including absence of the upper eyelid puncta, absence of the left inferior punctum, a left lacrimal fistula opening at the left caruncle, increased left tear lake, bilateral hypoplastic meibomian glands, mild conjunctival injection, and thin eyelid cilia and brow hair. Systemic findings included cleft lip and palate status-post repair, ectrodactyly of the hands and feet, adontia and microdontia, a pointed nose, and lightly pigmented, dry hair and skin. The patient underwent examination under anesthesia and left conjunctivodacryocystorhinostomy with insertion of a Jones tube with resolution of lacrimation postoperatively. To the authors' knowledge, this is the second report detailing management of congenital lacrimal anomalies in EEC syndrome, and the first describing management of punctal atresia with conjunctivodacryocystorhinostomy and Jones tube placement. PMID:24801258

  6. 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.

  7. Diagnostic and Prognostic Significance of Various Histopathological Features in Extrahepatic Biliary Atresia

    PubMed Central

    Karnan, Indumathi; Srinivasan, Padmanaban; Sadagopan, Pappathi; Manickam, Saraswathy

    2016-01-01

    Introduction Extrahepatic biliary atresia is a progressive disorder characterised by fibroinflammatory obliteration or stenosis of the extrahepatic biliary tree leading to obstruction of bile flow and cholestatic jaundice. It is the most common cause for cholestasis in newborn. Histopathological criteria for diagnosing biliary atresia from liver biopsy have not been clearly defined. Aim This study was undertaken to analyse the significance of the various histopathological features in diagnosis and prognosis of extrahepatic biliary atresia from liver biopsy specimens. Materials and Methods This was a retrospective study of 43 cases of extra-hepatic biliary atresia diagnosed and treated at a tertiary care hospital between January 2010 to December 2014. Formalin fixed paraffin embedded liver biopsy tissues were processed by standard technique and the slides were stained with haematoxylin and eosin. All the slides were reviewed and graded by a semi-quantitative scoring system. Features such as increased age at kasai’s portoenterostomy, portal fibrosis, bile duct proliferation, cholestasis, portal inflammation and duct plate malformation were studied. Statistical analysis was worked out using SPSS 17.0 (statistical package for the social science software). Chi-square test was used to find association between various parameters with respect to mortality and Kaplan-Meier estimator was used for survival analysis of the population under study. Results In this study comprising of 43 cases, only 6 cases (13.95%) were alive at the end of 6 months follow-up. Twenty patients who died and the 17 cases with poor survival had greater degrees of fibrosis, bile duct proliferation and cholestasis. Majority of the cases with duct plate malformation expired inspite of earlier surgical intervention. Thus proving the association of fibrosis, bile duct proliferation, cholestasis and duct plate malformation with the survival and prognosis of biliary atresia cases. Age at surgery did not

  8. 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

  9. Congenital hemophagocytic reticulosis.

    PubMed

    Koto, A; Morecki, R; Santorineou, M

    1976-04-01

    A fatal case of an apparently congenital form of hemophagocytic reticulosis is reported. The onset was manifested by hyperbilirubinemia and hepatosplenomegaly which were present at birth and persisted throughout life. Fever, anemia and pancytopenia developed at 1 month of age and became progressively worse. A splenectomy was performed at the age of 3 months, but the child died one day later with disseminated intravascular coagulation and pulmonary hemorrhage. The literature is reviewed with regard to the relationship of this case to (familial) hemophagocytic reticulosis and malignant histiocytosis (histiocytic medullary reticulosis). It is suggested that congenital hemophagocytic reticulosis, as described here, (familial) hemophagocytic reticulosis in infants, and malignant histiocytosis in adults all represent the same basic disorder with different ages of onset and clinicopathologic manifestations. PMID:1266810

  10. 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

  11. 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

  12. Congenital midline cervical cleft.

    PubMed

    Agag, Richard; Sacks, Justin; Silver, Lester

    2007-01-01

    Congenital midline cervical cleft (CMCC) is a rare disorder of the ventral neck that is clinically evident at birth and must be differentiated from the more common thyroglossal duct cyst. The case of CMCC presented here was associated with chromosomes 13/14 de novo Robertsonian translocations as well as midline deformities including a sacral tuft and a minor tongue-tie. The case is presented as well as discussion of histopathology, embryology, and surgical treatment. PMID:17214531

  13. Other congenital abnormalities.

    PubMed

    Cobbett, J R

    1974-06-29

    The plastic surgeon is not a miracle worker, as so many of his patients believe. Nevertheless, he can do much to minimize the functional and cosmetic effect of many congenital deformities. If a moral can be drawn from this article it must be that the plastic surgeon should be given an early opportunity to see and assess the patients described here, if only to ease the anxiety in the minds of their parents by appropriate reassurance and discussion. PMID:4853507

  14. 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

  15. 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.

  16. Bronchial-pulmonary arterial fistula with primary racemose hemangioma.

    PubMed

    Kato, Miharu; Morio, Yoshiteru; Matsunaga, Takeshi; Shiraishi, Akihiko; Uekusa, Toshimasa; Takahashi, Kazuhisa

    2016-04-01

    Bronchial-pulmonary arterial fistula (BPAF) is a rare vascular malformation complicated with racemose hemangioma. We report a case of a 65-year-old male with BPAF with primary racemose hemangioma. Bronchial arteriography demonstrated convolution, dilation, and aneurysm connected with pulmonary artery, suggesting the presence of BPAF, in the left upper lobe. Since a 20-mm sized aneurysm of bronchial artery and BPAF coexisted, he underwent ligation of bronchial arterial aneurysm and left upper lobectomy to prevent hemoptysis. As neither history of prior illness nor histopathologic findings of vascular inflammation was seen, the present case demonstrated BPAF with primary racemose hemangioma. Establishment of non-invasive treatment strategy for BPAF is urgently required. PMID:27081488

  17. Endobronchial lipoma: a rare cause of bronchial occlusion.

    PubMed

    Triviño, Ana; Mora-Cabezas, Montserrat; Vallejo-Benitez, Ana; García-Escudero, Antonio; González-Cámpora, Ricardo

    2013-11-01

    Endobronchial lipoma is a rare benign neoplasm of the tracheobronchial tree. Despite its benign nature, associated endoluminal polypoid growth can cause bronchial occlusion. In this paper, we present the consequences of a late diagnosis of this condition. PMID:23680317

  18. 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.

  19. 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

  20. Restoring esophageal continuity following a failed colonic interposition for long-gap esophageal atresia

    PubMed Central

    Dionigi, Beatrice; Bairdain, Sigrid; Smithers, Charles Jason; Jennings, Russell W.; Hamilton, Thomas E.

    2015-01-01

    The Foker process is a method of esophageal lengthening through axial tension-induced growth, allowing for subsequent primary reconstruction of the esophagus in esophageal atresia (EA). In this unique case, the Foker process was used to grow the remaining esophageal segment long enough to attain esophageal continuity following failed colonic interpositions for long-gap esophageal atresia (LGEA). Initially developed for the treatment of LGEA in neonates, this case demonstrates that (i) an active esophageal lengthening response may still be present beyond the neonate time-period; and, (ii) the Foker process can be used to restore esophageal continuity following a failed colonic interposition if the lower esophageal segment is still present. PMID:25907539

  1. Surgical management of 2 different presentations of ear canal atresia in dogs.

    PubMed

    Béraud, Romain

    2012-04-01

    A 6-year-old French spaniel and a 14-month-old German shepherd dog were diagnosed with ear canal atresia. Based on presentation, computed tomography, and auditory function evaluation, the first dog underwent excision of the horizontal ear canal and bulla curettage, and the second underwent re-anastomosis of the vertical canal to the external meatus. Both dogs had successful outcomes. PMID:23024390

  2. Surgical management of 2 different presentations of ear canal atresia in dogs

    PubMed Central

    Béraud, Romain

    2012-01-01

    A 6-year-old French spaniel and a 14-month-old German shepherd dog were diagnosed with ear canal atresia. Based on presentation, computed tomography, and auditory function evaluation, the first dog underwent excision of the horizontal ear canal and bulla curettage, and the second underwent re-anastomosis of the vertical canal to the external meatus. Both dogs had successful outcomes. PMID:23024390

  3. Equol inhibits growth, induces atresia, and inhibits steroidogenesis of mouse antral follicles in vitro.

    PubMed

    Mahalingam, Sharada; Gao, Liying; Gonnering, Marni; Helferich, William; Flaws, Jodi A

    2016-03-15

    Equol is a non-steroidal estrogen metabolite produced by microbial conversion of daidzein, a major soy isoflavone, in the gut of some humans and many animal species. Isoflavones and their metabolites can affect endogenous estradiol production, action, and metabolism, potentially influencing ovarian follicle function. However, no studies have examined the effects of equol on intact ovarian antral follicles, which are responsible for sex steroid synthesis and further development into ovulatory follicles. Thus, the present study tested the hypothesis that equol inhibits antral follicle growth, increases follicle atresia, and inhibits steroidogenesis in the adult mouse ovary. To test this hypothesis, antral follicles isolated from adult CD-1 mice were cultured with vehicle control (dimethyl sulfoxide; DMSO) or equol (600 nM, 6 μM, 36 μM, and 100 μM) for 48 and 96 h. Every 24h, follicle diameters were measured to monitor growth. At 48 and 96 h, the culture medium was subjected to measurement of hormone levels, and the cultured follicles were subjected to gene expression analysis. Additionally, follicles were histologically evaluated for signs of atresia after 96 h of culture. The results indicate that equol (100 μM) inhibited follicle growth, altered the mRNA levels of bcl2-associated X protein and B cell leukemia/lymphoma 2, and induced follicle atresia. Further, equol decreased the levels of estradiol, testosterone, androstenedione, and progesterone, and it decreased mRNA levels of cholesterol side-chain cleavage, steroid 17-α-hydroxalase, and aromatase. Collectively, these data indicate that equol inhibits growth, increases atresia, and inhibits steroidogenesis of cultured mouse antral follicles. PMID:26876617

  4. A functional study on small intestinal smooth muscles in jejunal atresia

    PubMed Central

    Tyagi, Preeti; Mandal, Maloy B.; Gangopadhyay, Ajay N.; Patne, Shashikant C. U.

    2016-01-01

    Aim: The present study was aimed to assess the contractile status of neonatal small intestinal smooth muscle of dilated pre-atretic part of intestinal atresia to resolve debatable issues related to mechanisms of persistent dysmotility after surgical repair. Materials and Methods: A total of 34 longitudinally sectioned strips were prepared from pre-atretic dilated part of freshly excised 8 jejunal atresia type III a cases. Spontaneous as well as acetylcholine- and histamine-induced contractions were recorded in vitro by using organ bath preparations. Chemically evoked contractions were further evaluated after application of atropine (muscarinic blocker), pheniramine (H1 blocker), and lignocaine (neuronal blocker) to ascertain receptors and neuronal involvement. Histological examinations of strips were made by using Masson trichrome stain to assess the fibrotic changes. Results: All 34 strips, except four showed spontaneous contractions with mean frequency and amplitude of 5.49 ± 0.26/min and 24.41 ± 5.26 g/g wet tissue respectively. The response to ACh was nearly twice as compared to histamine for equimolar concentrations (100 μM). ACh (100 μM) induced contractions were attenuated (by 60%) by atropine. Histamine (100 μM)-induced contractions was blocked by pheniramine (0.32 μM) and lignocaine (4 μM) by 74% and 78%, respectively. Histopathological examination showed varying degree of fibrotic changes in muscle layers. Conclusions: Pre-atretic dilated part of jejunal atresia retains functional activity but with definitive histopathologic abnormalities. It is suggested that excision of a length of pre-atretic part and early stimulation of peristalsis by locally acting cholinomimetic or H1 agonist may help in reducing postoperative motility problems in atresia patients. PMID:26862290

  5. Successful staged Fontan completion for a tricuspid atresia patient with left ventricular non-compaction.

    PubMed

    Shimada, Masatoshi; Sakamoto, Takahiko; Umezu, Kentaro; Harada, Yorikazu

    2016-03-01

    We report a case of Fontan completion for a tricuspid atresia (TA) patient with left ventricular non-compaction (LVNC). The patient was diagnosed with TA (Ia) with LVNC by fetal echocardiography. Because the unfavourable prognosis of LVNC was anticipated, Imidapril as well as Carvedilol were administered to improve cardiac function, from the early stages of infancy. Staged Fontan completion with fenestration was successfully achieved with improvement of LV function. PMID:26689445

  6. 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 ...

  7. 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) ...

  8. 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

  9. 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

  10. 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

  11. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study

    PubMed Central

    Tennstedt, C; Chaoui, R; Korner, H; Dietel, M

    1999-01-01

    OBJECTIVE—To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy.
MATERIAL—Necropsies were performed on 815 fetuses—448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)—during a seven year period (1991-97) in the department of pathology of the Charité Medical Centre in Berlin. A congenital heart defect was identified in 129 cases (16%). For all 129 fetuses, karyotyping and an ultrasound examination had been performed.
RESULTS—Congenital heart defects were present in 22% of induced abortions (99 cases), 9% of spontaneous abortions (20 cases), and 7% of stillbirths (10 cases). The heart malformations were classified into 13 categories. A fetus with more than one defect was included only in the category of the most serious defect. The malformations in order of frequency were: ventricular septal defect (VSD) (28%), atrioventricular septal defect (AVSD) (16%), hypoplastic left heart (HLH) (16%), double outlet right ventricle (DORV) (12%), coarctation of the aorta (CoA) (6%), transposition of the great arteries (TGA) (4%), aortic valve stenosis (AoVS) (4%), tetralogy of Fallot (TOF) (3%), truncus arteriosus communis (TAC) (3%), pulmonary valve stenosis/pulmonary valve atresia (PaVS/PaVA) (3%), tricuspid atresia (TA) (3%), single ventricle (SV) (1.5%), and atrial septal defect (ASD) (0.5%). The most common congenital heart defects were VSD, AVSD, HLH, and DORV, which made up 72% of all the cases. In 11 cases the heart defect was isolated (no other cardiovascular or extracardiac malformations present), 85 cases (66%) were associated with additional cardiac malformations, 85 cases (66%) were associated with extracardiac malformations, and chromosome anomalies were detected in 43 cases (33%).
CONCLUSIONS—Fetal congenital heart malformations are common. These defects are often

  12. 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

  13. Congenital limb deficiency disorders.

    PubMed

    Wilcox, William R; Coulter, Colleen P; Schmitz, Michael L

    2015-06-01

    Congenital limb deficiency disorders (LDDs) are birth defects characterized by the aplasia or hypoplasia of bones of the limbs. Limb deficiencies are classified as transverse, those due to intrauterine disruptions of previously normal limbs, or longitudinal, those that are isolated or associated with certain syndromes as well as chromosomal anomalies. Consultation with a medical geneticist is advisable. Long-term care should occur in a specialized limb deficiency center with expertise in orthopedics, prosthetics, and occupational and physical therapy and provide emotional support and contact with other families. With appropriate care, most children with LDDs can lead productive lives. PMID:26042905

  14. [Congenital myasthenic syndrome].

    PubMed

    Araga, Shigeru

    2008-06-01

    Congenital myasthenic syndromes (CMS) are rare heterogeneous disorders in which neuromuscular transmission is compromised by one or more specific mechanisms. CMS are clinically diagnosed by a history of fatigability and muscle weakness since infancy or early childhood, a decremental EMG response and the absence of acetylcholine receptor antibodies. CMS form a heterogeneous group of disorders which are classified as originating from presynaptic, synaptic or postsynaptic defects. Molecular genetic studies reveal a various type of mutations in synapse-associated genes. However, the genetic abnormalities of many CMS are still unresolved. This article outlines the classification of CMS and etiology of individual forms. PMID:18540366

  15. Precalcaneal Congenital Fibrolipomatous Hamartoma

    PubMed Central

    Yang, Ji-Hye; Park, Oun-Jae; Kim, Jeong-Eun; Won, Chong-Hyun; Chang, Sung-Eun; Choi, Jee-Ho; Moon, Kee-Chan

    2011-01-01

    Precalcaneal congenital fibrolipomatous hamartomas (PCFHs) are characterized clinically by the presence of unilateral or bilateral, asymptomatic nodules in the medial precalcaneal plantar region of the heel. They are skin colored and usually painless nodules. In most patients, the lesions appear within the first few months of life, but they may also be present at birth. Generally PCFHs are benign, but they can grow in proportion to the growth of the infants. Here, we report the case of a 4-month-old boy with a solitary, localized skin-colored nodule on the precalcaneal plantar region of his right heel, diagnosed as a PCFH. PMID:21738373

  16. Nonclassic Congenital Adrenal Hyperplasia

    PubMed Central

    Witchel, Selma Feldman; Azziz, Ricardo

    2010-01-01

    Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH. PMID:20671993

  17. Congenital nephrotic syndrome.

    PubMed

    Begolli, Mirije; Begolli, Ilir; Gojani, Xhenane; Arenliu-Qosaj, Fatime; Berisha, Merita

    2011-01-01

    The aim of this case is to present a case of a two month old female with congenital nephritic syndrome, which is very rare. On admission, the baby showed marked edema and distended abdomen. She was diagnosed and treated with daily albumin infusions, antibiotics, diuretic, gamma globulin replacement, ACEI and NSAIDs. Parents were informed about the nature of the disease, prognosis, and advised for further medical care in a more advanced kidney transplantation centre. This was the first treatment of this condition in the Pediatric Clinic in Kosovo and it presented a challenge for us. PMID:22299306

  18. CONGENITAL DIAPHRAGMATIC HERNIA

    PubMed Central

    Adams, Burton E.

    1954-01-01

    Treatment of congenital diaphragmatic hernia in infants is a matter of semi-emergency and should be done as soon as adequate preparations can be made because sometimes fatal complications develop swiftly. In preoperative preparation there is great advantage in thorough decompression of the abdominal viscera, stomach, bowel and bladder. As to operation, the author believes the abdominal approach has most to recommend it. In the postoperative period, continued gastric suction for a brief time, parenteral administration of fluids and use of a Mistogen tent with a high moist oxygen content will facilitate rapid recovery. ImagesFigure 1. PMID:13209363

  19. Congenital protein hypoglycosylation diseases

    PubMed Central

    Sparks, Susan E

    2012-01-01

    Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are over 40 different congenital protein hypoglycosylation diseases. This review will include defects of N-linked glycosylation, O-linked glycosylation and disorders of combined N- and O-linked glycosylation. PMID:23776380

  20. 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

  1. Integrative genomics identifies candidate microRNAs for pathogenesis of experimental biliary atresia

    PubMed Central

    2013-01-01

    Background Biliary atresia is a fibroinflammatory obstruction of extrahepatic bile duct that leads to end-stage liver disease in children. Despite advances in understanding the pathogenesis of biliary atresia, very little is known about the role of microRNAs (miRNAs) in onset and progression of the disease. In this study, we aimed to investigate the entire biliary transcriptome to identify miRNAs with potential role in the pathogenesis of bile duct obstruction. Results By profiling the expression levels of miRNA in extrahepatic bile ducts and gallbladder (EHBDs) from a murine model of biliary atresia, we identified 14 miRNAs whose expression was suppressed at the times of duct obstruction and atresia (≥2 fold suppression, P < 0.05, FDR 5%). Next, we obtained 2,216 putative target genes of the 14 miRNAs using in silico target prediction algorithms. By integrating this result with a genome-wide gene expression analysis of the same tissue (≥2 fold increase, P < 0.05, FDR 5%), we identified 26 potential target genes with coordinate expression by the 14 miRNAs. Functional analysis of these target genes revealed a significant relevance of miR-30b/c, -133a/b, -195, -200a, -320 and −365 based on increases in expression of at least 3 target genes in the same tissue and 1st-to-3rd tier links with genes and gene-groups regulating organogenesis and immune response. These miRNAs showed higher expression in EHBDs above livers, a unique expression in cholangiocytes and the subepithelial compartment, and were downregulated in a cholangiocyte cell line after RRV infection. Conclusions Integrative genomics reveals functional relevance of miR-30b/c, -133a/b, -195, -200a, -320 and −365. The coordinate expression of miRNAs and target genes in a temporal-spatial fashion suggests a regulatory role of these miRNAs in pathogenesis of experimental biliary atresia. PMID:24138927

  2. 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

  3. 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.

  4. [Bronchial rupture in blunt thoracic trauma].

    PubMed

    López Espadas, F; Zabalo, M; Encinas, M; Díaz Regañón, G; Pagola, M A; González Fernández, C

    2000-12-01

    In closed chest trauma, bronchial rupture is an unusual but potentially serious complication, with an associated mortality rate of 30%. Recent decades have seen an increase in incidence parallel to greater use of transport. Eighty percent of injuries are located 2.5 cm from the carina. Diagnosis is based on clinical signs, imaging and bronchoscopy. Subcutaneous emphysema and respiratory insufficiency are the most common findings. Images show the presence of pneumothorax, pneumomediastinum or both. Bronchoscopy is the diagnostic method of choice and must be performed early. Treatment consists of reestablishing anatomical continuity of the tracheobronchial tree by surgical repair if the lesion affects more than a third of the circumference and/or pneumothorax is not resolved after two chest drainages. This type of injury should be recognized and treated early, both to restore lung function and to prevent associated complications caused by delay. However, initial findings are seldom specific, requiring the physician to display a high degree of suspicion and explaining why diagnosis often comes late. PMID:11171438

  5. Congenital Median Upper Lip Fistula

    PubMed Central

    al Aithan, Bandar

    2012-01-01

    Congenital median upper lip fistula (MULF) is an extremely rare condition resulting from abnormal fusion of embryologic structures. We present a new case of congenital medial upper lip fistula located in the midline of the philtrum of a 6 year old girl. PMID:22953305

  6. [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. PMID:26776286

  7. Congenital fiber type disproportion.

    PubMed

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. PMID:26526626

  8. [Congenital defects and incapacity].

    PubMed

    Jouve de la Barreda, Nicolás

    2009-01-01

    As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro. PMID:19799481

  9. [Congenital multiple arthrogryposis].

    PubMed

    Parsch, Klaus; Pietrzak, Szymon

    2007-03-01

    From 1975 to 2004 a total of 38 children handicapped by congenital multiple arthrogryposis were cared for. The congenital joint contractures demand a major effort in terms of surgical reconstruction. In the case of distal arthrogryposis the chances that patients will be able to walk without help are good, while those with amyoplasia are likely to be dependent on mobility aids throughout their lives. The ultimate goal of treatment for patients is to develop into self-confident adults who can cope with life despite their handicaps. The hip in arthrogryposis shows variable forms of pathology, ranging from the almost normal hip to hip contractures with dislocation. Its treatment has some limited advantages, but hardly improves mobility. The knee contractures are actively treated to allow patients to sit, stand and walk better. The club foot and the rocker-bottom foot need sophisticated conservative and operative treatments. If conservative manipulation of bilateral extension contractures of the elbow fails operative treatment is carried out on the dominant side. For shoulder, hand and finger contractures conservative manipulation brings about little improvement, and surgical approaches help hardly at all. PMID:17323063

  10. Cataracts in Congenital Toxoplasmosis

    PubMed Central

    Arun, Veena; Noble, A. Gwendolyn; Latkany, Paul; Troia, Robert N.; Jalbrzikowski, Jessica; Kasza, Kristen; Karrison, Ted; Cezar, Simone; Sautter, Mari; Greenwald, Mark J.; Mieler, William; Mets, Marilyn B.; Alam, Ambereen; Boyer, Kenneth; Swisher, Charles N.; Roizen, Nancy; Rabiah, Peter; Del Monte, Monte A.; McLeod, Rima

    2008-01-01

    Purpose To determine the incidence and natural history of cataracts in children with congenital toxoplasmosis. Methods Children referred to the National Collaborative Chicago-based Congenital Toxoplasmosis Study (NCCCTS) between 1981 and 2005 were examined by ophthalmologists at predetermined times according to a specific protocol. The clinical course and treatment of patients who developed cataracts was reviewed. Results In the first year of life, 134 of 173 children examined were treated with pyrimethamine, sulfadiazine, and Leucovorin, while the remaining 39 were not treated. Cataracts occurred in 27 eyes of 20 patients (11.6%, 95% confidence interval [7.2%, 17.3%]). Fourteen cataracts were present at birth, and 13 developed postnatally. Locations of the cataracts included anterior polar (3 eyes), anterior subcapsular (6), nuclear (5), posterior subcapsular (7), and unknown (6). Thirteen cataracts were partial, 9 total, and 5 with unknown complexity. Twelve cataracts remained stable, 12 progressed, and progression was not known for 3. Five of 27 eyes had cataract surgery, with 2 of these developing glaucoma. Sixteen eyes of 11 patients had retinal detachment and cataract. All eyes with cataracts had additional ocular lesions. Conclusions In the NCCCTS cohort, 11.6% of patients were diagnosed with cataracts. There was considerable variability in the presentation, morphology, and progression of the cataracts. Associated intraocular pathology was an important cause of morbidity. PMID:18086432

  11. [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

  12. The porcine bronchial artery: surgical and angiographic anatomy

    PubMed Central

    GADE, JOHN; NORGAARD, MARTIN A.; ANDERSEN, CLAUS B.; PETTERSSON, GÖSTA; SVENDSEN, ULRIK G.; OLSEN, PETER S.

    1999-01-01

    The pig is often used in experimental studies on the significance of bronchial artery circulation, but the anatomy of this artery is only poorly described. The purpose of this study was to improve the anatomical basis for experimental studies on the porcine bronchial artery circulation. The origin of the artery from the aorta is described in 32 pigs. Heart–lung blocks were perfused with saline and removed in 16 pigs, and the broncho-oesophageal orifice was identified and cannulated. In these 16 specimens the intrapulmonary ramification was studied by angiography, and the extrapulmonary distribution and supply area by injection of Evans Blue. The broncho-oesophageal artery originated from the aorta as a single trunk in 91%. Angiography showed that each principal bronchus was accompanied by 2 bronchial artery branches far into the lung parenchyma. The central branching pattern of the artery between the aorta and the principal bronchi was divided into 3 subtypes. Evans Blue showed communication with the whole mediastinum. The anatomical relations are described. It is concluded that the broncho-oesophageal artery divides to follow each bronchus with 2 bronchial branches. A nomenclature for these branches is suggested. The pig anatomy is suited for experimental investigations on the bronchial circulation. PMID:10337956

  13. Histopathological study on changes of bronchial epithelium among chromate workers

    SciTech Connect

    Mikami, H.

    1982-09-01

    There have been many reports on lung cancer among chromate workers. Chromate compounds are thought to be a carcinogen and lung cancer among chromate workers is considered one of the occupational lung cancers. Recently, it is debated that metaplastic and hyperplastic changes of bronchial epithelium are revealed or not to the development of bronchogenic carcinoma. Histopathological study on changes of bronchial epithelium among chromate workers was performed in order to clarify the effect of chromate compounds to bronchial epithelium. The subjects were 14 cases of lung cancer among chromate workers. As a control, 18 cases of non cancer among chromate workers. Lung tissue which was obtained at necropsy or surgery was fixed by formalin and was produced cross-sections and was stained on Haematoxylin-Eosin. The results were as follows. 1. Of examined 235 cross-sections, basal cell hyperplasia of bronchial epithelium was found in 13 per cent. Squamous metaplasia was found in 29 per cent, on the contrary, atypical metaplastic changes were observed in 34 per cent. 2. Of four cases of carcinoma in situ and two cases of small invasive carcinoma, four cases revealed development from atypical squamous metaplasia to precancerous changes. 3. These cases developed invasive carcinoma from atypical squamous metaplasia for a long period, of which were found by successive exfoliative cytology of sputum. From these findings, it was concluded that inhalation of chromate dust affected bronchial epithelium and caused highly atypical squamous metaplasia which developed to carcinoma in situ and finally to invasive carcinoma.

  14. Bronchial hyperresponsiveness in women cooks and cleaners.

    PubMed

    Karadzinska-Bislimovska, Jovanka; Minov, Jordan; Risteska-Kuc, Snezana; Stoleski, Saso; Mijakoski, Dragan

    2007-06-01

    The aim of this cross-sectional study was to assess the prevalence and characteristics of bronchial hyperresponsiveness (BHR) in 43 women cleaners (aged 26 to 57) and 37 women cooks (aged 29 to 55) and compare them with 45 controls (women office workers aged 27 to 58). The evaluation of all subjects included a questionnaire, skin prick tests to common aeroallergens, spirometry, and histamine challenge (PC20 < or = 8 mg mL(-1)). We found higher BHR prevalence in cleaners and cooks than in office workers (30.2 % and 29.7 %, vs. 17.7 %, respectively), but statistical significance was not reached. The prevalence of mild and moderate to severe BHR was similar in all groups. Borderline BHR prevalence was significantly higher in cleaners than in controls (16.2 % vs. 6.6 %, P=0.032) whereas the difference was on the verge of significance in cooks (13.5 % vs. 6.6 %, P=0.081). Moderate to severe BHR was strongly associated with positive family history of asthma and atopy in all groups. Mild BHR was significantly associated with daily smoking in cleaners (P=0.031) and cooks (P=0.021), as well as with the duration of exposure in cleaners (P=0.038). Borderline BHR was closely related to daily smoking and duration of exposure in both cleaners and cooks. Our findings indicate an important role of workplace exposure in borderline BHR development, as well as the significant effect of smoking on mild BHR development in women cleaners and cooks. PMID:17562606

  15. 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

  16. Liver transplant in a child with an uncommon co-occurrence of biliary atresia and bilateral vesicoureteral reflux.

    PubMed

    Deniz, Emine Ebru; Terzi, Ayşen; Özdemir, Binnaz Handan; Haberal, Nihan; Baskın, Esra; Haberal, Mehmet

    2014-03-01

    We report the clinicopathologic findings of a patient with biliary atresia associated with vesicoureteral reflux who underwent a liver transplant and nephroureterectomy simultaneously. The patient was a 22-month-old female infant born of a nonconsanguineous marriage, who was reported to be icteric from first day of life. Her antenatal history was significant for bilateral hydronephrosis. The results of a liver biopsy showed findings of biliary atresia, and the results of a radiograph showed bilateral vesicoureteral reflux. Therefore, the patient underwent a liver transplant and a right nephroureterectomy simultaneously. In the days after the operation, the patient died because of extrahepatic hematoma. In conclusion, a child having biliary atresia must remain for investigation of associated anomalies including vesicoureteral reflux. PMID:24635820

  17. Osteopontin Upregulation in Rotavirus-Induced Murine Biliary Atresia Requires Replicating Virus But is Not Necessary for Development of Biliary Atresia

    PubMed Central

    Hertel, Paula M.; Crawford, Sue E.; Finegold, Milton J.; Estes, Mary K.

    2011-01-01

    Biliary atresia (BA) is a progressive fibro-inflammatory pediatric liver disease in which osteopontin (OPN), a glycoprotein with inflammatory and fibrogenic activity, may play a pathogenic role. The current studies were conducted in a mouse model of rotavirus-induced BA to test the hypotheses that live but not inactivated rotavirus causes antigenemia, upregulation of hepatic OPN expression, and induction of BA and fibrosis; and that OPN is necessary for development of BA. Prolonged or transient antigenemia developed in mice inoculated with live or inactivated virus, respectively, but only live virus upregulated hepatic OPN and caused BA and fibrosis. OPN was expressed in intra- and extrahepatic bile ducts in healthy mice and in mice with BA. OPN-deficient mice, similarly to WT mice, developed BA. Together, these data show that live but not inactivated rotavirus causes upregulation of hepatic OPN expression and BA but that OPN is not necessary for development of BA. PMID:21742364

  18. 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.

  19. Congenital adrenal hyperplasia

    PubMed Central

    Dessinioti, Cleo; Katsambas, Andreas

    2009-01-01

    Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency. Clinical forms range from the severe, classical CAH associated with complete loss of enzyme function, to milder, non-classical forms (NCAH). Androgen excess affects the pilosebaceous unit, causing cutaneous manifestations such as acne, androgenetic alopecia and hirsutism. Clinical differential diagnosis between NCAH and polycystic ovary syndrome may be difficult. In this review, the evaluation of patients with suspected CAH, the clinical presentation of CAH forms, with emphasis on the cutaneous manifestations of the disease, and available treatment options, will be discussed. PMID:22523607

  20. Multicystic congenital mesoblastic nephroma.

    PubMed

    Drut, Ricardo

    2002-01-01

    This report describes an unusual example of congenital mesoblastic nephroma cellular variant that presented in a 1-week-old neonate as a multicystic tumor of the kidney. Extensive pseudocystic cavitation resulted from progressive accumulation of ground substance in a loosely myxoid tissue composed of stellate- and spindle-shaped cells that compressed and infiltrated renal tissue. The cells of the tumor were positive for vimentin and smooth muscle actin. The patient is alive and well 16 years after surgery. Differential diagnosis from segmental cystic dysplasia, cystic intralobar nephrogenic rest, cystic nephroma, cystic partially differentiated nephroblastoma, cystic nephroblastoma, and cystic clear cell sarcoma of the kidney, all of which may present at this age, is discussed. PMID:11927972

  1. 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

  2. Congenital vertical talus: a review.

    PubMed

    McKie, Janay; Radomisli, Timothy

    2010-01-01

    Congenital vertical talus, also known as congenital convex pes valgus, is an uncommon disorder of the foot, manifested as a rigid rocker-bottom flatfoot. Radiographically, it is defined by dorsal dislocation of the navicular on the talus. This condition requires surgical correction. If left untreated, this foot deformity results in a painful and rigid flatfoot with weak push-off power. This article provides an overview of this rare foot deformity, outlines appropriate workup of the disorder, and details current treatment options, with emphasis on the evolution of treatment of congenital vertical talus. PMID:19963176

  3. 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...

  4. Anaesthetic management of left main bronchial glomus tumour

    PubMed Central

    Krishnakumar, Mathangi; Sharma, Rammurti; Pawar, Harshwardhan Singh; Hasnain, Shahbaz

    2016-01-01

    Glomus tumours involving bronchus are rare. Surgical resection is the treatment of choice for this tumour, with excellent prognosis. The nature and location of tumour pose a significant challenge for perioperative anaesthetic management. However, there is a paucity of case reports on anaesthetic risks involved in case of a bronchial glomus tumour. We present a case of glomus tumour involving left main stem bronchus, subjected to bronchial sleeve resection. The various anaesthetic implications of this tumour type and airway management with right double lumen tube are discussed. PMID:27141112

  5. 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

  6. 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.

  7. 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

  8. 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

  9. Laser valvotomy with balloon valvoplasty for pulmonary atresia with intact ventricular septum: five years' experience.

    PubMed Central

    Gibbs, J. L.; Blackburn, M. E.; Uzun, O.; Dickinson, D. F.; Parsons, J. M.; Chatrath, R. R.

    1997-01-01

    OBJECTIVE: To assess immediate and medium term results of transcatheter laser valvotomy with balloon valvoplasty in selected infants with pulmonary atresia and intact ventricular septum. DESIGN: Prospective study. SETTING: Tertiary cardiac unit. PATIENTS: All infants with pulmonary atresia and intact septum with no more than minor tricuspid valve hypoplasia referred between November 1990 and June 1995. Laser valvotomy was attempted in nine infants of median age 4-5 days and median weight 3.6 kg. INTERVENTION: The pulmonary valve was perforated using a 0.018 inch fibreoptic guidewire attached to a NdYag laser and introduced through a catheter positioned beneath the valve. After perforation the valve was dilated with progressively larger balloons. MAIN OUTCOME MEASURES: Successful laser valvotomy and balloon dilatation, complications, pulse oximetry, right ventricular outflow velocities, and need for surgical treatment. RESULTS: Valvotomy was successful in all but one case, the failure being due to laser breakdown. After perforation the valve was dilated to 6-8 mm diameter. Prostaglandin E was withdrawn immediately in six of the eight duct dependent infants, and 28 and 49 days later in two. No patient required an aortopulmonary shunt. Two patients had repeat valvoplasty at 20 days and three months of age, respectively; one required infundibular resection and closure of the atrial septum at age four and one is awaiting similar treatment. CONCLUSIONS: Laser valvotomy with balloon valvoplasty is safe and effective treatment for selected patients with pulmonary atresia and intact ventricular septum and should be considered as first line treatment in place of surgical valvotomy. Images PMID:9093038

  10. Transection of a Coopdech bronchial blocker tip during bronchial resection for right upper lobectomy: a case report

    PubMed Central

    Lee, Yong-Hun; Yang, Hye Mo; Kim, Hyun-Chang; Bahk, Jae-Hyon

    2015-01-01

    A bronchial blocker (BB) is preferred for lung separation in patients with difficult airways. However, BBs, unlike double-lumen tubes, must be placed in the bronchus of the lung being operated on, hence can be damaged by surgical manipulation. Intubation was unexpectedly difficult in this male patient, so a Coopdech BB was placed in the right mainstem bronchus through a single-lumen tracheoscopic ventilation tube for a thoracoscopic right upper lobectomy. During the bronchial resection, however, the distal tip of the BB was transected and pinched in the staple line, so the staple line was partially opened, and the BB was withdrawn into the trachea. The opened bronchial stump was sutured manually under apnea without conversion to an open thoracotomy, and there was no significant air leakage through the suture line. This case underlines the importance of frequently evaluating the position of a BB during lung surgery. PMID:26045933

  11. Congenitally persistent left superior vena cava: a possible unpleasant problem during invasive procedures.

    PubMed

    Rigatelli, Gianluca

    2007-07-01

    The persistence of the left superior vena cava is the most common thoracic vein anomaly, but, nevertheless, it continues to be an unpleasant finding during invasive diagnostic cardiovascular procedures and is sometimes a challenge during invasive therapeutic interventions. Persistent left superior vena cava usually occurs in 0.5% of the normal population and 0.47% of patients undergoing pacemaker or implantable cardioverter defibrillator implantation. The incidence in congenital heart disease varies (2-5%), and it is more frequent in stenosis or pulmonary atresia, D-transposition, complete atrioventricular septal defects, and anomalous pulmonary vein drainage. The diagnosis is almost always incidental, during anaesthesiological procedures such as central vein placement, or diagnostic cardiovascular procedures, such as right heart catheterization, but it may sometimes be discovered during therapeutic paediatric cardiac catheterization, such as during patent foramen ovale or atrial septal defect transcatheter closure. Echocardiography is useful to identify patients in whom computed tomography and especially magnetic resonance imaging may pose a definitive diagnosis. In indicated cases, when cyanosis is present and the anomaly is isolated, treatment options include surgical ligation and transcatheter closure using large occluder devices, whereas more challenging surgical repairs are needed when the anomaly is associated with other complex congenital heart diseases. Different specialists at different levels such as anaesthesiologists, invasive cardiologists, electrophysiologists and cardiac surgeons should be aware of the variety of technical problems that may be caused by a persistent LSVC. PMID:17568279

  12. 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

  13. 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

  14. Extrahepatic biliary atresia with choledochal cyst: Prenatal MRI predicted and post natally confirmed: A case report.

    PubMed

    Nori, Madhavi; Venkateshwarlu, J; Vijaysekhar; Prasad, G Raghavendra

    2013-07-01

    Extrahepatic biliary atresia (EHBA) is an uncommon cause of neonatal jaundice. Antenatal Magnetic Resonance Imaging (MRI) diagnosis of EHBA has not been published to the best of our knowledge till date. EHBA with cystic component is likely to be mistaken for choledochal cyst. A case that was antenatally predicted and postnatally confirmed by surgery and histopathology is being reported. All imaging signs are analyzed herewith. Imaging helps in the prediction of EHBA and also helps in early postnatal surgical referral which in turn improves the results of Kasai's portoenterostomy. PMID:24347854

  15. Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association

    PubMed Central

    Rodagi, Sunil B.; Surana, Snehal S.; Potdar, Vijaykumar R.; Kirdi, Sharanbasav S.

    2016-01-01

    Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 1:1, 00, 000 live births. It is linked to a single-gene TBX5 “protein-producing” mutation with gene map locus 12q24. Most commonly it is characterized by the cardiac septation defects and pre-axial radial ray abnormalities. We are reporting a case of HOS with aortic atresia which is a rare association. PMID:27293527

  16. Dysphagia among adult patients who underwent surgery for esophageal atresia at birth

    PubMed Central

    Huynh-Trudeau, Valérie; Maynard, Stéphanie; Terzic, Tatjana; Soucy, Geneviève; Bouin, Mickael

    2015-01-01

    BACKGROUND: Clinical experiences of adults who underwent surgery for esophageal atresia at birth is limited. There is some evidence that suggests considerable long-term morbidity, partly because of dysphagia, which has been reported in up to 85% of adult patients who undergo surgery for esophageal atresia. The authors hypothesized that dysphagia in this population is caused by dysmotility and/or anatomical anomalies. OBJECTIVE: To determine the motor and anatomical causes of dysphagia. METHODS: A total of 41 adults, followed at the Esophageal Atresia Clinic at Hôpital Saint-Luc (Montreal, Quebec), were approached to particpate in the present prospective study. Evaluation was completed using upper endoscopy, manometry and barium swallow for the participants who consented. The medical charts of respondents were systematically reviewed from the neonatal period to 18 years of age to assess medical and surgical history. RESULTS: All 41 patients followed at the clinic consented and were included in the study. Dysphagia was present in 73% of patients. Esophagogastroduodenoscopy was performed in 32 patients: hiatal hernia was present in 62% (n=20); esophageal diverticulum in 13% (n=4); macroscopic Barrett esophagus in 31% (n=10); and esophagitis in 19% (n=6). Histological esophagitis was present in 20% and intestinal metaplasia in 10%. There were no cases of dysplagia or adenocarcinoma. Esophageal manometry was performed on 56% of the patients (n=23). Manometry revealed hypomotility in 100% of patients and included an insufficient number of peristaltic waves in 96%, non-propagating peristalsis in 78% and low-wave amplitude in 95%. Complete aperistalsis was present in 78%. The lower esophageal sphincter was abnormal in 12 (52%) patients, with incomplete relaxation the most common anomaly. Of the 41 patients, 29 (71%) consented to a barium swallow, which was abnormal in 13 (45%). The anomalies found were short esophageal dilation in 28%, delay in esophageal emptying in 14

  17. Clinical and pathological challenges in the diagnosis of late-onset biliary atresia: four case studies

    PubMed Central

    Fontenele, J.P.U.; Schenka, A.A.; Hessel, G.; Jarry, V.M.; Escanhoela, C.A.F.

    2016-01-01

    Biliary atresia (BA) is classically described at the neonatal age. However, rare cases of BA in older infants have also been reported. We report four cases of late-onset BA in infants older than 4 weeks (3 males, 1 female), and describe the diagnostic and management difficulties. One of the cases had a late-onset (29 weeks) presentation with a successful surgical procedure. We highlight the importance of this unusual differential diagnosis in infants with cholestatic syndrome, who may benefit from Kasai surgery, regardless of age. PMID:26840713

  18. Secondary Vaginal Atresia Treated with Vaginoplasty Using Amnion Graft: A Case Report

    PubMed Central

    Samal, Sunil Kumar

    2014-01-01

    We report a case of 26-year-old primipara with last child birth 1.5 year back who presented with amenorrhoea, cyclical lower abdominal pain and dyspareunia for past six months. Examination revealed vaginal atresia secondary to previous traumatic/mismanaged vaginal delivery with haematocolpos. She was managed by vaginoplasty with amnion graft and regular dilation with soft vaginal mould for six weeks and was advised for regular intercourse after that. On follow up our patient was doing well with restoration of normal coital function. PMID:25584275

  19. Dermal and bronchial hyperreactivity in urticarial dermographism and urticaria factitia.

    PubMed

    Henz, B M; Jeep, S; Ziegert, F S; Niemann, J; Kunkel, G

    1996-03-01

    For investigation of a possible relationship between cutaneous and bronchial hyperreactivity, 74 subjects were grouped according to the presence (n = 33) or absence (n = 41) of urticarial dermographism after application of a standardized shearing pressure with a dermographometer (12.7 x 10(5) Pa). the two groups did not differ in age, sex, smoking habits, presence of urticaria and atopy, or serum IgE levels. Erythema of the dermographic test sites was always significantly greater (P < 0.001) in the group with urticarial dermographism at 2, 4, and 8 min, and cutaneous reactivity with titrated prick tests was significantly increased in this group with low concentrations of histamine, 0.01% and substance P (0.25 mM) (P < 0.05). After bronchial provocation with acetylcholine, 51 of the 74 subjects, 25 with and 26 without urticarial dermographism, exhibited bronchial hyperreactivity. However, significantly more subjects with urticarial dermographism had an increase in airway resistance and a decrease in specific airway conductance (P < 0.05). In the subgroup (n = 9) of subjects with symptomatic urticarial dermographism (urticaria factitia), these differences were even more significant (P < 0.001). These subjects also had larger skin test reactions and significantly higher IgE levels (P < 0.01). Thus, the present data show an association, which may be based on common mechanisms of allergic inflammation, between cutaneous and bronchial hyperreactivity. PMID:8781671

  20. Acetylcholinesterase-positive nerves of the rhesus monkey bronchial tree.

    PubMed Central

    El-Bermani, A W; Grant, M

    1975-01-01

    The rhesus monkey lung was stained both by histological methods and histochemically for specific acetylcholinesterase (AChE). AChE-containing nerves in bundles were demonstrated in connective tissue of the hilum and in association with clusters of ganglion cells. These bundles become associated with the bronchial tree as they enter the lung parenchyma, and their numbers of myelinated fibres diminish as they pass scattered ganglion cells along the bronchial system. Extrachondral and subchondral plexuses of nerves were found to be interconnected and to contribute to the perimuscular varicose nerve plexus of the bronchi and bronchioles. These nerve plexuses were found to extend as far as the respiratory bronchioles. In the bronchial submucosa there are AChE-positive nerve plexuses which arise from three sources: (1) the adventitial plexus in bronchioles, or the subchondral plexus in bronchi, (2) the perimuscular nerve plexus, and (3) AChe-containing nerves associated with the bronchial artery. The submucosal plexus appears to innervate the acinar submucosal glands in bronchi as well as continuing as central nerves in the mucosal folds. In the bronchioles the nerves in the mucosal fold are in close relationship with the mucosa. Images PMID:1179313

  1. Processing bronchial sonograms to detect respiratory cycle fragments

    NASA Astrophysics Data System (ADS)

    Bureev, A. Sh; Zhdanov, D. S.; Zemlyakov, I. Yu; Svetlik, M. V.

    2014-10-01

    This article describes the authors' results of work on the development of a method for the automated assessment of the state of the human bronchopulmonary system based on acoustic data. In particular, the article covers the method of detecting breath sounds on bronchial sonograms obtained during the auscultation process.

  2. [Chronic bronchial dilatations in different colonies of laboratory rats].

    PubMed

    Miguel, Juan Carlos; Erazo, Ariana; Beduino, Fernanda; Picena, Juan Carlos; Luciano, María Isabel; Pizzutti, Gustavo; Tarrés, María Cristina; Montenegro, Silvana; Martínez, Stella Maris

    2002-06-01

    Bronchiectasis occurred naturally in 12-month-old spontaneously diabetic eSS male rats. The lungs of 3 and 6-month-old eSS rats were compared in eumetabolic eSS rats from three inbred lines consisting of inbred spontaneously diabetic eSS derived from IIM strain; these were compared with eumetabolic, outbred Wistar rats, paired by sex and age. Acrylic casts of bronchial tree were obtained after injection of a plastic substance. The casts were pruned to focus on the first four bronchial branchings. Diameter and volume of the conductive bronchial tree were determined using a binocular magnifier. Histological sections were obtained. All lines showed multiple bronchiectasis, mostly fusiform, bronchial dilatation and inflammatory response with lymphocytic infiltrates. These symptoms were much more severe in 180-day-old eSS males. Bacteria were isolated from the lungs in 70% of cases (n = 32), except in eSS rats. Pseudomonas spp. (38%) and Gram-positive cocci as coagulase-negative Staphylococcus spp. (20%) were detected. Neither pathogenic bacteria nor saprophyte fungi were found. Although all lines were affected, diabetes in eSS appears to be an aggravating factor. PMID:12152476

  3. Accurate 3D quantification of the bronchial parameters in MDCT

    NASA Astrophysics Data System (ADS)

    Saragaglia, A.; Fetita, C.; Preteux, F.; Brillet, P. Y.; Grenier, P. A.

    2005-08-01

    The assessment of bronchial reactivity and wall remodeling in asthma plays a crucial role in better understanding such a disease and evaluating therapeutic responses. Today, multi-detector computed tomography (MDCT) makes it possible to perform an accurate estimation of bronchial parameters (lumen and wall areas) by allowing a quantitative analysis in a cross-section plane orthogonal to the bronchus axis. This paper provides the tools for such an analysis by developing a 3D investigation method which relies on 3D reconstruction of bronchial lumen and central axis computation. Cross-section images at bronchial locations interactively selected along the central axis are generated at appropriate spatial resolution. An automated approach is then developed for accurately segmenting the inner and outer bronchi contours on the cross-section images. It combines mathematical morphology operators, such as "connection cost", and energy-controlled propagation in order to overcome the difficulties raised by vessel adjacencies and wall irregularities. The segmentation accuracy was validated with respect to a 3D mathematically-modeled phantom of a pair bronchus-vessel which mimics the characteristics of real data in terms of gray-level distribution, caliber and orientation. When applying the developed quantification approach to such a model with calibers ranging from 3 to 10 mm diameter, the lumen area relative errors varied from 3.7% to 0.15%, while the bronchus area was estimated with a relative error less than 5.1%.

  4. Morphological integrity of the bronchial epithelium in mild asthma.

    PubMed Central

    Lozewicz, S; Wells, C; Gomez, E; Ferguson, H; Richman, P; Devalia, J; Davies, R J

    1990-01-01

    In severe asthma bronchial epithelial cells are damaged and detached, and it has been proposed that such damage might lead to the bronchial hyperresponsiveness that characterises asthma. To investigate the relation between airway hyperresponsiveness and epithelial damage, biopsy specimens of the bronchial mucus membrane were obtained at fibreoptic bronchoscopy from 11 patients with mild atopic asthma and airway hyperresponsiveness (provocative concentration of methacholine causing a 20% fall in FEV1 (PC20) less than 1.0 mg/ml), and from 17 healthy non-atopic subjects who did not have airway hyperresponsiveness (PC20 methacholine greater than 8.0 mg/ml). Observers who were blind to the presence or absence of asthma examined the biopsy specimens by light and electron microscopy. Epithelial cells, intercellular spaces, and goblet cells were counted. Intercellular junctional complexes were examined, and a semiquantitative assessment was made of ciliary loss, non-parallel central ciliary filaments, and vacuoles in ciliated cells. There were no differences between the asthmatic and healthy groups in any of these measurements. These findings indicate that airway hyperresponsiveness may be present when there is no apparent change in the structure of the bronchial epithelium. PMID:2321171

  5. 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....

  6. Unilateral pulmonary agenesis associated with oesophageal atresia and tracheoesophageal fistula: A case report with prenatal diagnosis

    PubMed Central

    Miyano, Go; Morita, Keiichi; Kaneshiro, Masakatsu; Miyake, Hiromu; Koyama, Mariko; Nouso, Hiroshi; Yamoto, Masaya; Nakano, Reiji; Tanaka, Yasuhiko; Nishiguchi, Tomizo; Kawamura, Takakazu; Fukumoto, Koji; Urushihara, Naoto

    2015-01-01

    We describe herein a case of unilateral pulmonary agenesis (PA) with oesophageal atresia (EA)/tracheoesophageal fistula (TEF) that was diagnosed prenatally and repaired by esophagoesophagostomy with stable postoperative course. The patient was born at 34 weeks gestation, after ultrasonography at 22 weeks gestation showed possible right-sided diaphragmatic eventration or PA and EA was subsequently suspected due to hydramnios. The initial X-ray showed mediastinal shift to the right, and coil up sign of the nasogastric tube, without intracardiac anomaly. Immediately after the diagnosis of EA/TEF and unilateral PA on day 0, the patient was intubated in the operating room, and a gastrostomy tube was placed. After pulmonary status stabilized, at 4 days old, EA/TEF was repaired through a thoracotomy in the right 4th intercostal space. The right main bronchus was noted to continue into the distal oesophagus; this fistula was ligated and divided, and a single-layer esophagoesophagostomy was performed under mild tension with one vertebral gap. The neonate was maintained on mechanical ventilation and gradually weaned to extubation at 7 days old. The postoperative course was uneventful, with the exception of prolonged jaundice that emerged at 3 months old. Laparoscopic cholangiography at that time excluded biliary atresia, and jaundice resolved spontaneously. The patient has not shown any respiratory symptoms or feeding difficulties as of the 12-month follow-up. PMID:25659560

  7. Biliary atresia and other cholestatic childhood diseases: Advances and future challenges.

    PubMed

    Verkade, Henkjan J; Bezerra, Jorge A; Davenport, Mark; Schreiber, Richard A; Mieli-Vergani, Georgina; Hulscher, Jan B; Sokol, Ronald J; Kelly, Deirdre A; Ure, Benno; Whitington, Peter F; Samyn, Marianne; Petersen, Claus

    2016-09-01

    Biliary Atresia and other cholestatic childhood diseases are rare conditions affecting the function and/or anatomy along the canalicular-bile duct continuum, characterised by onset of persistent cholestatic jaundice during the neonatal period. Biliary atresia (BA) is the most common among these, but still has an incidence of only 1 in 10-19,000 in Europe and North America. Other diseases such as the genetic conditions, Alagille syndrome (ALGS) and Progressive Familial Intrahepatic Cholestasis (PFIC), are less common. Choledochal malformations are amenable to surgical correction and require a high index of suspicion. The low incidence of such diseases hinder patient-based studies that include large cohorts, while the limited numbers of animal models of disease that recapitulate the spectrum of disease phenotypes hinders both basic research and the development of new treatments. Despite their individual rarity, collectively BA and other cholestatic childhood diseases are the commonest indications for liver transplantation during childhood. Here, we review the recent advances in basic research and clinical progress in these diseases, as well as the research needs. For the various diseases, we formulate current key questions and controversies and identify top priorities to guide future research. PMID:27164551

  8. Differential changes in intrinsic innervation and interstitial cells of Cajal in small bowel atresia in newborns

    PubMed Central

    Gfroerer, Stefan; Metzger, Roman; Fiegel, Henning; Ramachandran, Priya; Rolle, Udo

    2010-01-01

    AIM: To investigate morphological changes of the enteric nervous system (ENS) and the interstitial cells of Cajal (ICCs) in small bowel atresia. METHODS: Resected small bowel specimens from affected patients (n = 7) were divided into three parts (proximal, atretic, distal). Standard histology and enzyme immunohistochemistry anti-S100, anti-protein gene product (PGP) 9.5, anti-neurofilament (NF), anti-c-kit-receptor (CD117) was carried out on conventional paraffin sections of the proximal and distal part. RESULTS: The neuronal and glial markers (PGP 9.5, NF, S-100) were expressed in hypertrophied ganglia and nerve fibres within the myenteric and submucosal plexuses. Furthermore, the submucous plexus contained typical giant ganglia. The innervation pattern of the proximal bowel resembled intestinal neuronal dysplasia. The density of myenteric ICCs was clearly reduced in the proximal bowel, whereas a moderate number of muscular ICCs were found. The anti-CD117 immunoreaction revealed additional numerous mast cells. The distal bowel demonstrated normal morphology and density of the ENS, the ICCs and the mast cells. CONCLUSION: The proximal and distal bowel in small bowel atresia revealed clear changes in morphology and density of the ENS and ICCs. PMID:21128321

  9. Robo1/2 regulate follicle atresia through manipulating granulosa cell apoptosis in mice

    PubMed Central

    Li, Jiangchao; Ye, Yuxiang; Zhang, Renli; Zhang, Lili; Hu, Xiwen; Han, Dong; Chen, Jiayuan; He, Xiaodong; Wang, Guang; Yang, Xuesong; Wang, Lijing

    2015-01-01

    Secreted Slit proteins and their Roundabout (Robo) receptors act as a repulsive cue to preventaxons from migrating to inappropriate locations during the development of the nervous system. Slit/Robo has also been implicated in reproductive system development, but the molecular mechanism of the Slit/Robo pathway in the reproductive system remains poorly understood. Using a transgenic mouse model, we investigated the function of the Slit/Robo pathway on ovarian follicle development and atresia. We first demonstrated that more offspring were born to mice with a partial knockout of the Robo1/2 genes in mice. We next showed that Robo1 and Robo2 are strongly expressed in ovarian granulosacells. Apoptosis in granulosa cells was reduced when Robo1/2 were partially knocked out, and this observation was further verified by in vitro Robo1/2 knockout experiments in mouse and human granulosa cells. We also found that ovarian angiogenesis wasenhanced by a partial lack of Robo1/2 genes. In summary, our data suggest that the Slit/Robo pathway can impact follicle development and atresia by influencinggranulosa cell apoptosis. PMID:25988316

  10. 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

  11. Robo1/2 regulate follicle atresia through manipulating granulosa cell apoptosis in mice.

    PubMed

    Li, Jiangchao; Ye, Yuxiang; Zhang, Renli; Zhang, Lili; Hu, Xiwen; Han, Dong; Chen, Jiayuan; He, Xiaodong; Wang, Guang; Yang, Xuesong; Wang, Lijing

    2015-01-01

    Secreted Slit proteins and their Roundabout (Robo) receptors act as a repulsive cue to prevent axons from migrating to inappropriate locations during the development of the nervous system. Slit/Robo has also been implicated in reproductive system development, but the molecular mechanism of the Slit/Robo pathway in the reproductive system remains poorly understood. Using a transgenic mouse model, we investigated the function of the Slit/Robo pathway on ovarian follicle development and atresia. We first demonstrated that more offspring were born to mice with a partial knockout of the Robo1/2 genes in mice. We next showed that Robo1 and Robo2 are strongly expressed in ovarian granulosa cells. Apoptosis in granulosa cells was reduced when Robo1/2 were partially knocked out, and this observation was further verified by in vitro Robo1/2 knockout experiments in mouse and human granulosa cells. We also found that ovarian angiogenesis was enhanced by a partial lack of Robo1/2 genes. In summary, our data suggest that the Slit/Robo pathway can impact follicle development and atresia by influencing granulosa cell apoptosis. PMID:25988316

  12. Laparoscopy-Assisted Percutaneous Cholangiography in Biliary Atresia Diagnosis: Comparison with Open Technique

    PubMed Central

    Alkan, Murat; Tutus, Kamuran; Fakıoglu, Ender; Ozden, Onder; Hatipoglu, Zehra; Iskit, Serdar Hilmi; Tuncer, Recep; Zorludemir, Unal

    2016-01-01

    Introduction. Biliary atresia is a surgical cause of prolonged jaundice, which needs to be diagnosed with cholangiography that has traditionally been performed via laparotomy. Laparoscopic assistance has lately been introduced to avoid unnecessary laparotomy. We aim to evaluate the benefits of the laparoscopy-assisted cholangiography and compare it to the traditional procedure via laparotomy. Patients and Method. The medical records of the cases who had undergone cholangiography for prolonged jaundice between 2007 and 2014 were analyzed. The patients were grouped according to cholangiography technique (laparotomy/laparoscopy). The laparoscopy and laparotomy groups with patent bile ducts were focused and compared in terms of operation duration, postoperative initiation time of enteral feeding, and full enteral feeding achievement time. Results. Sixty-one infants with prolonged jaundice were evaluated between 2007 and 2014. Among the patients with patent bile ducts, operation duration, postoperative enteral feeding initiation time, and the time to achieve full enteral feeding were shorter in laparoscopy group. Conclusion. Laparoscopic cholangiography is safe and less time-consuming compared to laparotomy, with less postoperative burden. As early age of operation is a very important prognostic factor, laparoscopic evaluation should be an early option in work-up of the infants with prolonged jaundice with direct hyperbilirubinemia, for diagnosis/exclusion of biliary atresia. PMID:26819607

  13. Treatment of colon conduit redundancy in a child with esophageal atresia.

    PubMed

    Glasser, James G; Reddy, P Prithvi; Adkins, E Stanton

    2006-03-01

    We recently revised a redundant colon conduit in a boy who was born with isolated esophageal atresia. In view of the paucity of reports dealing with correction of this common complication of esophageal replacement, it seemed appropriate to report our experience. Because of effective medical therapy of acid peptic disease, patients who formerly required conduit replacement may now be candidates for revision; however, the medical literature does not specify when conduit revision, as opposed to conduit replacement, is indicated; also, no guidance is provided regarding what constitutes effective operative revision. Innovative techniques that stretch and elongate the atretic esophagus will likely lessen the use of conduits in esophageal atresia; nevertheless, colon conduits are useful in many other clinical situations and will remain an essential part of the armamentarium of pediatric, general, and thoracic surgeons. This report highlights the DeMeester and Tannuri technique, whereby a colon conduit is prepared like a Roux limb. The mesentery is divided only once; the conduit's blood supply is not severed from the distal mesocolon. This innovation improves a conduit's blood supply and lessens its attendant complications. Lastly, we describe a muscle splitting, posterolateral thoracotomy technique that is simpler than the alternatives and is useful in a variety of clinical situations. PMID:16553129

  14. [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

  15. Congenital parotid fistula.

    PubMed

    Natasha, Shiggaon

    2014-01-01

    Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen's duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT) fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient. PMID:25231049

  16. Congenital Diaphragmatic Hernia

    PubMed Central

    2012-01-01

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

  17. Congenital diaphragmatic hernia.

    PubMed

    Tovar, Juan A

    2012-01-01

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

  18. Congenital Triangular Alopecia.

    PubMed

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

    Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders such as Down's syndrome and phakomatosis pigmentovascularis. The diagnosis is based on its distinct clinical appearance. Histologically, hair follicles are miniaturized and replaced by sparse vellus hair follicles. Tricoscopy using a polarized light handheld dermatoscope can be a useful diagnostic tool. CTA is often asymptomatic and remains unchanged throughout the life. No treatment is required. Surgical intervention with follicular unit hair transplantation can provide a satisfactory cosmetic result. In this paper, we have identified 126 cases of CTA in the published literature cited on PubMed between 1905 and 2015. From the available evidence, 79% of patients with CTA presented with unilateral hair loss, 18.5% with bilateral involvement and rarely, with occipital alopecia (2.5%). There was no gender predilection. These figures are entirely consistent with previously published data. Physicians should remember to consider CTA as a potential diagnosis in any patient presenting with a nonscarring alopecia in order to avoid unnecessary investigations and treatments. PMID:26180448

  19. Congenital Rhabdomyosarcoma of Shoulder

    PubMed Central

    Khaleghnejad-Tabari, Ahmad; Mirshemirani, Alireza; Rouzrokh, Mohsen; Nariman, Shahin; Hassas-Yeganeh, Shaghayegh; Gharib, Atoosa; Khaleghnejad-Tabari, Nasibeh

    2012-01-01

    A 16-day-old female was referred with congenital swelling on her right shoulder. On examination, there was a hard, round, ecchymotic, nontender, slightly movable, warm and shiny 10x15 cm mass on the right axillary pits which was extended to the right side of neck and chest wall. The mass separated the shoulder from the chest wall causing paralysis of right hand. Chest X-ray, ultrasound and MRI with contrast demonstrated a soft tissue mass suspected to be a hemangioma. The mass rapidly increased in size despite aggressive steroid therapy with rupture and bleeding. On the 45th post natal day the baby was taken to operating room to control the bleeding and if possible total excision of the mass. The mass was separated easily from the surrounding tissue and was excised along with right upper extremity. At the end of surgery the baby had cardiac arrest, and apparently died of Disseminated Intravascular Coagulation (DIC). The final pathology report was Rhabdomyosarcoma (RMS). PMID:25628836

  20. [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

  1. Singing in congenital amusia.

    PubMed

    Dalla Bella, Simone; Giguère, Jean-François; Peretz, Isabelle

    2009-07-01

    Congenital amusia is a musical disorder characterized by impaired pitch perception. To examine to what extent this perceptual pitch deficit may compromise singing, 11 amusic individuals and 11 matched controls were asked to sing a familiar tune with lyrics and on the syllable /la/. Acoustical analysis of sung renditions yielded measures of pitch accuracy (e.g., number of pitch errors) and time accuracy (e.g., number of time errors). The results revealed that 9 out of 11 amusics were poor singers, mostly on the pitch dimension. Poor singers made an anomalously high number of pitch interval and contour errors, produced pitch intervals largely deviating from the score, and lacked pitch stability; however, more than half of the amusics sang in-time. Amusics' variability in singing proficiency was related to their residual pitch perceptual ability. Thus, their singing deficiency might be a consequence of their perceptual deficit. Nevertheless, there were notable exceptions. Two amusic individuals, despite their impoverished perception, sang proficiently. The latter findings are consistent with the existence of separate neural pathways for auditory perception and action. PMID:19603898

  2. Continuous monitoring of the bronchial epithelial lining fluid by microdialysis

    PubMed Central

    Tyvold, Stig S; Solligård, Erik; Lyng, Oddveig; Steinshamn, Sigurd L; Gunnes, Sigurd; Aadahl, Petter

    2007-01-01

    Background Contents of the epithelial lining fluid (ELF) of the bronchi are of central interest in lung diseases, acute lung injury and pharmacology. The most commonly used technique broncheoalveolar lavage is invasive and may cause lung injury. Microdialysis (MD) is a method for continuous sampling of extracellular molecules in the immediate surroundings of the catheter. Urea is used as an endogenous marker of dilution in samples collected from the ELF. The aim of this study was to evaluate bronchial MD as a continuous monitor of the ELF. Methods Microdialysis catheters were introduced into the right main stem bronchus and into the right subclavian artery of five anesthetized and normoventilated pigs. The flowrate was 2 μl/min and the sampling interval was 60 minutes. Lactate and fluorescein-isothiocyanate-dextran 4 kDa (FD-4) infusions were performed to obtain two levels of steady-state concentrations in blood. Accuracy was defined as [bronchial-MD] divided by [arterial-MD] in percent. Data presented as mean ± 95 percent confidence interval. Results The accuracy of bronchial MD was calculated with and without correction by the arteriobronchial urea gradient. The arteriobronchial lactate gradient was 1.2 ± 0.1 and FD-4 gradient was 4.0 ± 1.2. Accuracy of bronchial MD with a continuous lactate infusion was mean 25.5% (range 5.7–59.6%) with a coefficient of variation (CV) of 62.6%. With correction by the arteriobronchial urea gradient accuracy was mean 79.0% (57.3–108.1%) with a CV of 17.0%. Conclusion Urea as a marker of catheter functioning enhances bronchial MD and makes it useful for monitoring substantial changes in the composition of the ELF. PMID:17976234

  3. 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

  4. Congenital Cytomegalovirus Infection: Audiologic Outcome

    PubMed Central

    Fowler, Karen B.

    2013-01-01

    The association between congenital cytomegalovirus (CMV) infection and sensorineural hearing loss (SNHL) was first described almost 50 years ago. Studies over the intervening decades have further described the relationship between congenital CMV infection and SNHL in children. However, congenital CMV infection remains a leading cause of SNHL in children in the United States and the world today. As more CMV infections are identified, it is important to recognize that infants who are born to seroimmune mothers are not completely protected from SNHL, although their hearing loss is often milder than that seen in CMV-infected infants following primary maternal infections. Late-onset and progressive hearing losses occur following congenital CMV infection, and CMV-infected infants should be evaluated regularly to provide for early detection of hearing loss and appropriate intervention. Fluctuating hearing loss that is not explained by concurrent middle ear infections is another characteristic of CMV-related hearing loss in children. Challenges still remain in predicting which children with congenital CMV infection will develop hearing loss and, among those who do develop loss, whether or not the loss will continue to deteriorate. PMID:24257423

  5. 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

  6. 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. PMID:21437824

  7. Common Tests for Congenital Heart Defects

    MedlinePlus

    ... Heart Defect - Fetal Circulation • Care & Treatment • 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: ...

  8. 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 ...

  9. 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: ...

  10. 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 ...

  11. Understand Your Risk for Congenital Heart Defects

    MedlinePlus

    ... health problems than their parents. Learn more about genetic counseling . Single gene: Rarely, congenital heart defects are caused ... of Congenital Heart Defects • Understand Your Risk Introduction Genetic Counseling • Symptoms & Diagnosis • Care & Treatment • Tools & Resources Related Sites ...

  12. 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.

  13. [The congenital afibrinogenemia: case report].

    PubMed

    Brahem, Imen; Charfeddine, Bassem; Chraiti, Haythem; Ben Abdallah, Jihene; Ben Othmen, Leila; Neffati, Souhir; Ali Smach, Mohamed; Ltaief, Affef; Ksourri, Monia; Dridi, Hedi; Limem, Khalifa

    2010-01-01

    The deficiency in factor I or fibrinogen is a largely unknown genetic disease. It is a rare condition inherited as an autosomal recessive, whose clinical events are variable, ranging from moderate to minimal bleeding or cataclysmic hemorrhage. We report a case of congenital afibrinogenemia in a 17 years-old patient hospitalized in surgical ICU for hemoperitoneum medium abundance discovered by abdominal ultrasound performed before a picture of abdominopelvic pain lasting for 24 hours. Exploration led to the diagnosis of congenital afibrinogenemia with favorable evolution with a contribution of factor deficient. Through this case we raise the problem of congenital afibrinogenemia in diagnosis and the peculiarities of its management. PMID:20870582

  14. Paternal transmission of congenital myotonic dystrophy.

    PubMed Central

    Bergoffen, J; Kant, J; Sladky, J; McDonald-McGinn, D; Zackai, E H; Fischbeck, K H

    1994-01-01

    The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counselling myotonic dystrophy patients and their families. Images PMID:7966187

  15. New insights into molecular pathways associated with flatfish ovarian development and atresia revealed by transcriptional analysis

    PubMed Central

    Tingaud-Sequeira, Angèle; Chauvigné, François; Lozano, Juanjo; Agulleiro, María J; Asensio, Esther; Cerdà, Joan

    2009-01-01

    Background The Senegalese sole (Solea senegalensis) is a marine flatfish of increasing commercial interest. However, the reproduction of this species in captivity is not yet controlled mainly because of the poor knowledge on its reproductive physiology, as it occurs for other non-salmonid marine teleosts that exhibit group-synchronous ovarian follicle development. In order to investigate intra-ovarian molecular mechanisms in Senegalese sole, the aim of the present study was to identify differentially expressed genes in the ovary during oocyte growth (vitellogenesis), maturation and ovarian follicle atresia using a recently developed oligonucleotide microarray. Results Microarray analysis led to the identification of 118 differentially expressed transcripts, of which 20 and 8 were monitored by real-time PCR and in situ hybridization, respectively. During vitellogenesis, many up-regulated ovarian transcripts had putative mitochondrial function/location suggesting high energy production (NADH dehydrogenase subunits, cytochromes) and increased antioxidant protection (selenoprotein W2a), whereas other regulated transcripts were related to cytoskeleton and zona radiata organization (zona glycoprotein 3, alpha and beta actin, keratin 8), intracellular signalling pathways (heat shock protein 90, Ras homolog member G), cell-to-cell and cell-to-matrix interactions (beta 1 integrin, thrombospondin 4b), and the maternal RNA pool (transducer of ERBB2 1a, neurexin 1a). Transcripts up-regulated in the ovary during oocyte maturation included ion transporters (Na+-K+-ATPase subunits), probably required for oocyte hydration, as well as a proteinase inhibitor (alpha-2-macroglobulin) and a vesicle calcium sensor protein (extended synaptotagmin-2-A). During follicular atresia, few transcripts were found to be up-regulated, but remarkably most of them were localized in follicular cells of atretic follicles, and they had inferred roles in lipid transport (apolipoprotein C-I), chemotaxis

  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. 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

  18. Congenital granular-cell myoblastoma.

    PubMed

    Cussen, L J; MacMahon, R A

    1975-04-01

    The clinical and pathologic features of congenital granular-cell myoblastoma in five infant girls are reported. One lesion, treated expectantly, progressively decreased in size and after 3 yr and 9 mo could not be detected, while two lesions which were imcompletely excised did not recur. It is suggested that congenital granular-cell myoblastoma is caused by an intrauterine stimulus, and that this stimulus may possible be production of estrogen by the fetus. Congential granular-cell myoblastoma should be treated expectantly or by limited excision, and has an excellent prognosis. PMID:164527

  19. [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

  20. Congenital long QT syndrome

    PubMed Central

    Crotti, Lia; Celano, Giuseppe; Dagradi, Federica; Schwartz, Peter J

    2008-01-01

    Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is estimated at close to 1 in 2,500 live births. The two cardinal manifestations of LQTS are syncopal episodes, that may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities, including prolongation of the QT interval and T wave abnormalities. The genetic basis of the disease was identified in the mid-nineties and all the LQTS genes identified so far encode cardiac ion channel subunits or proteins involved in modulating ionic currents. Mutations in these genes (KCNQ1, KCNH2, KCNE1, KCNE2, CACNA1c, CAV3, SCN5A, SCN4B) cause the disease by prolonging the duration of the action potential. The most prevalent LQTS variant (LQT1) is caused by mutations in the KCNQ1 gene, with approximately half of the genotyped patients carrying KCNQ1 mutations. Given the characteristic features of LQTS, the typical cases present no diagnostic difficulties for physicians aware of the disease. However, borderline cases are more complex and require the evaluation of various electrocardiographic, clinical, and familial findings, as proposed in specific diagnostic criteria. Additionally, molecular screening is now part of the diagnostic process. Treatment should always begin with β-blockers, unless there are valid contraindications. If the patient has one more syncope despite a full dose β-blockade, left cardiac sympathetic denervation (LCSD) should be performed without hesitation and implantable cardioverter defibrillator (ICD) therapy should be considered with the final decision being based on the individual patient characteristics (age, sex, clinical history, genetic subgroup including mutation-specific features in some cases, presence of ECG signs – including 24-hour Holter recordings – indicating high electrical instability). The prognosis of the

  1. 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

  2. Physical conditioning programme for children with bronchial asthma.

    PubMed

    Olivia, C K

    1990-04-01

    Exercise-induced bronchospasm limits physical activity in most asthmatic children. Twelve children with stable chronic asthma were enrolled in a physical conditioning program to improve ventilation mechanics and to promote physical activity. The program consisted of eight weekly sessions of one-and-a-half hours each, followed by three months of weekly swimming lessons. The activities were preceded by a warm-up period and interspersed with rest. Premedication with an aerosol bronchodilator or sodium cromoglycate was allowed before training. Cardiorespiratory status was studied before and after the program. The program was well received by the children with no bronchospasm. Five showed improvement in lung volumes and/or flow rates. Bronchial liability remained the same. The basal heart rate slowed in four children. No significant arrhythmia was detected. With continued practice, cardiorespiratory function might improve further. The program should be incorporated as part of the overall management of bronchial asthma. PMID:2116067

  3. Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome?

    PubMed Central

    Rodriguez, Maria Matilde; Correa-Medina, Mayrin; Whittington, Elizabeth E.

    2015-01-01

    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

  4. [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

  5. Techniques of protection and revascularization of the bronchial anastomosis.

    PubMed

    Venuta, Federico; Diso, Daniele; Anile, Marco; Rendina, Erino A

    2016-03-01

    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

  6. 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

  7. Nitric oxide synthases are associated with bronchial dysplasia.

    PubMed

    Puhakka, Airi R A; Harju, Terttu H; Pääkkö, Paavo K; Soini, Ylermi M; Kinnula, Vuokko L

    2006-03-01

    Recent studies suggest that reactive oxygen (ROS) and nitrogen species (RNS) are highly associated with the pathogenesis of cigarette smoke related lung diseases but their role in the malignant conversion of bronchial epithelium is unclear. The immunohistochemical expression of inducible, endothelial and neuronal nitric oxide synthases (iNOS, eNOS and nNOS) and nitrotyrosine as a biomarker of oxidative/nitrosative stress was evaluated in 79 cases including 13 non-smokers, 20 smokers without chronic obstructive pulmonary disease (COPD), 22 with COPD and 24 with metaplasia-dysplasia-sequence of the bronchial epithelium. Normal lung of non-smokers was mainly negative for nitrotyrosine, while it was higher in the alveolar macrophages of cigarette smokers and COPD than in non-smokers (p=0.025, p<0.001), and in the alveolar epithelium of smokers and COPD than in non-smokers (p=0.049). There were no major differences in the nitrotyrosine immunoreactivity between the metaplastic/dysplastic lesions and bronchial epithelium of cigarette smokers. Inducible NOS and nNOS were mainly non-detectable or weak in the normal looking bronchial epithelium of smokers and COPD, whereas metaplasia and dysplasia showed positivity for iNOS (22/24) and nNOS (14/24) in the majority of cases. Strong immunoreactivity for iNOS and nNOS was also found more often in dysplastic than metaplastic (p=0.011 and p=0.049, respectively) specimens. Thus, smoking can cause protein nitration also in normal lung. Prominent iNOS and nNOS immunoreactivity in the metaplasia-dysplasia-lesions suggests a divergent role of NOSs in lung carcinogenesis. PMID:16420964

  8. Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome.

    PubMed

    Hall, R K; Bankier, A; Aldred, M J; Kan, K; Lucas, J O; Perks, A G

    1997-12-01

    This article describes a series of 21 consecutive cases, each involving a solitary median maxillary central incisor; the patients were seen in the Department of Dentistry or the Victorian Clinical Genetics Unit, Murdoch Institute, at the Royal Children's Hospital, Melbourne, from 1966 to 1997. The spectrum of anomalies and associated features present in these cases--solitary median maxillary central incisor, choanal atresia, and holoprosencephaly--is described, and the literature related to the features, including genetic studies in these conditions, is reviewed. We relate our findings in these cases to current knowledge of developmental embryology. It is hoped that the findings, together with our interpretation of them, will help to clarify understanding of solitary median maxillary central incisor syndrome. This syndrome was previously considered a simple midline defect of the dental lamina, but it is now recognized as a possible predictor of holoprosencephalies of varying degrees in the proband, in members of the proband's family, and in the family's descendants. PMID:9431535

  9. Improved results with hepatic portoenterostomy: a reassessment of its value in the treatment of biliary atresia.

    PubMed Central

    Smith, E I; Carson, J A; Tunell, W P; Hitch, D C; Pysher, T J

    1982-01-01

    As reported in 1974, the initial experience at the Oklahoma Children's Memorial Hospital with the Kasai procedure for biliary atresia was unsatisfactory. A subsequent series of 20 patients, in which 50% of the patients are alive and improved and 25% jaundice-free, is described. Modifications of the initial operative technique have been utilized. Postoperative complications in the ten children with sustained bile flow included cholangitis in five, hyponatremia in four, esophageal variceal hemorrhage in two, stomal bleeding in two, and gallbladder conduit malfunction in two patients. The improved outcome is attributed to earlier diagnosis and correction, attention to operative details, intensive postoperative nutritional support, and prompt recognition and management of complications. Images Fig. 5. Fig. 6. Fig. 7A. Fig. 7B. PMID:6805444

  10. 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

  11. Clues to the Etiology of Bile Duct Injury in Biliary Atresia

    PubMed Central

    Mack, Cara L.; Feldman, Amy G.; Sokol, Ronald J.

    2013-01-01

    Biliary atresia (BA) is an infantile obstructive cholangiopathy of unknown etiology with suboptimal therapy, which is responsible for 40 to 50% of all pediatric liver transplants. Although the etiology of bile duct injury in BA in unknown, it is postulated that a pre- or perinatal viral infection initiates cholangiocyte apoptosis and release of antigens that trigger a Th1 immune response that leads to further bile duct injury, inflammation, and obstructive fibrosis. Humoral immunity and activation of the innate immune system may also play key roles in this process. Moreover, recent investigations from the murine BA model and human data suggest that regulatory T cells and genetic susceptibility factors may orchestrate autoimmune mechanisms. What controls the coordination of these events, why the disease only occurs in the first few months of life, and why a minority of infants with perinatal viral infections develop BA are remaining questions to be answered. PMID:23397531

  12. Embolisation of a Bronchial Artery of Anomalous Origin in Massive Haemoptysis

    PubMed Central

    Md Ralib, Ahmad Razali; Han, Ng Teck; Hin, How Soon; Muda, Ahmad Sobri

    2010-01-01

    Massive haemoptysis is the most dreaded of all respiratory emergencies. Bronchial artery embolisation is known to be a safe and effective procedure in massive haemoptysis. Bronchial artery of anomalous origin presents a diagnostic challenge to interventional radiologists searching for the source of haemorrhage. Here, we report a case of massive haemoptysis secondary to a lung carcinoma with the bronchial artery originating directly from the right subclavian artery. This artery was not evident during the initial flush thoracic aortogram. The anomalous-origin bronchial artery was then embolised using 15% diluted glue with good results. An anomalous-origin bronchial artery should be suspected if the source of haemorrhage is not visualised in the normally expected bronchial artery location. PMID:22135550

  13. Orbital Cellulitis: A Rare Presentation of Metastatic Bronchial Carcinoma

    PubMed Central

    Kumar, Rohit; Issing, Wolfgang

    2011-01-01

    Objective. We report a rare and unusual case of bronchial carcinoma presenting with symptoms of complications of sinonasal disease. Case Report. A 66-year-old lady was referred with a 1-week history of progressive ocular pain, chemosis, and visual disturbance. Computed tomography of the paranasal sinuses revealed frontal and ethmoidal sinus opacification with orbital involvement consistent with a diagnosis of orbital cellulitis secondary to sinusitis. Surgical exploration revealed that the sinuses and right orbit were filled with soft tissue and subsequent histopathological examination of the biopsies indicating metastases from an adenosquamous bronchial carcinoma. Further imaging revealed a large, asymptomatic, bronchial primary with deposits in the brain and liver. The advanced presentation of the disease limited treatment to best supportive care. Conclusion. Orbital cellulitis and sinonasal malignancies have a similar pattern of clinical presentation, posing a potential diagnostic pitfall. There are only two previously reported cases of metastatic lung carcinoma in the frontal sinus with 15 cases of sinonasal tract involvement reported overall. There are no reported cases of adenosquamous carcinoma in the sinonasal tract. PMID:22937366

  14. Decreased physical activity in adults with bronchial asthma.

    PubMed

    van 't Hul, Alex J; Frouws, Siete; van den Akker, Edmee; van Lummel, Rob; Starrenburg-Razenberg, Anja; van Bruggen, Alie; Braunstahl, Gert-Jan; In 't Veen, Johannes C C M

    2016-05-01

    Contradictory findings have been reported in the literature on the impact that bronchial asthma may have on habitual physical activity. The present study was designed to compare physical activity, objectively measured with an activity monitor, between adults with bronchial asthma and apparently healthy controls. Valid registrations of physical activity were obtained in 226 patients with asthma and 201 healthy controls. A multiple general linear model was used to test between group differences and to correct for confounding of the results due to between group differences in BMI and employment status. In the patients, statistically significantly lower values were found for average steps/day (-1202; CI -1893 to -511; P = 0.001), physical activity level based on an estimate of a person's total energy expenditure (-0.035; CI -0.067 to -0.003); P = 0.034) and daily time (minutes) spent at vigorous intensive physical activity (-11; CI -17 to -1; P < 0.001). In addition, weak albeit significant correlations were found between measures of physical activity and asthma control. We conclude that bronchial asthma in adults is associated with a significant reduction in physical activity as compared to apparently healthy controls and is accompanied by a lower perceived health status. This is in support of the postulation of PA as potential pathway to better the outcome of care for these patients. PMID:27109814

  15. Rescue from dominant follicle atresia by follicle-stimulating hormone in mice.

    PubMed

    Zhou, X L; Teng, Y; Cao, R; Fu, H; Xiong, K; Sun, W X; Zhu, C C; Huang, X J; Xiao, P; Liu, H L

    2013-01-01

    We investigated the effects of follicle-stimulating hormone (FSH) on atresia of the dominant follicle and changes in relevant apoptosis genes in granulosa cells of dominant follicles regulated by FSH in vivo. Four-week-old mice were administered FSH by intraperitoneal injection to induce follicular maturation. Granulosa cells of dominant follicles were collected at 48, 72, and 96 h after the first FSH injection. Phosphate-buffered saline was injected as a control. The mRNA levels of relevant granulosa cell apoptosis genes were examined by real-time quantitative polymerase chain reaction, and apoptosis of granulosa cells in dominant ovarian follicles was determined by the terminal deoxynucleotidyl transferase dUTP nick-end labeling (TUNEL) assay. Apoptosis in granulosa cells of dominant follicles was almost TUNEL-negative at 48, 72-66, 72, and 96-90 h after the first FSH injection, but granulosa cell apoptosis in dominant follicles was clearly detected at 96, 102, and 102-96 h by TUNEL. The BIM, caspase-3, and caspase-9 mRNA expression levels were significantly lower after FSH treatment at 72-66 and 96-90 h, compared with that at 72 and 96 h (P < 0.05). Caspase-8 and FasL mRNA expressions did not respond to FSH. FSH rescued granulosa cells from apoptosis when the relevant apoptosis genes were upregulated in early atretic follicles. FSH did not rescue granulosa cells from apoptosis if the DNA was cut into fragments by endonucleases. Thus, the rescue by FSH of granulosa cells from apoptosis and dominant follicle atresia may be accomplished by inhibition of apoptosis in mitochondria. PMID:24065650

  16. Health in adults with congenital heart disease.

    PubMed

    Cuypers, Judith A A E; Utens, Elisabeth M W J; Roos-Hesselink, Jolien W

    2016-09-01

    Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. PMID:27451323

  17. Experimental model of congenital syphilis.

    PubMed Central

    Kajdacsy-Balla, A; Howeedy, A; Bagasra, O

    1993-01-01

    Female LSH hamsters infected with Treponema pallidum subsp, endemicum before pregnancy or during early pregnancy transmit a form of syphilis to the fetus that is similar to human congenital syphilis. The offspring develops rhinitis, skin rash, failure to thrive, and hepatosplenomegaly. T. pallidum is detectable in their livers, spleens, and nasal secretions. Immunoglobulin M antibodies are detected in the serum. Images PMID:8335390

  18. 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

  19. 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 ...

  20. Esophageal atresia

    MedlinePlus

    ... and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management . 10th ed. Philadelphia, ... G Lee, MD, MSc, IBCLC, Associate Professor of Pediatrics, Division of Neonatology, Medical University of ...

  1. Biliary Atresia

    MedlinePlus

    ... Tips for applicants; human subjects research information; grant review and management resources; and commonly used funding mechanisms, including diversity and small business programs Research Programs & Contacts Research program and staff ...

  2. Evolutive leukoencephalopathy in congenital cytomegalovirus infection.

    PubMed

    Krakar, Goran; Đaković, Ivana; Delin, Sanja; Bošnjak, Vlatka Mejaški

    2015-01-01

    Congenital cytomegalovirus infection is the most common infectious cause of congenital brain injury. Type and severity of congenital cytomegalovirus infection-related brain abnormalities depend on the developmental stage of the central nervous system at the time of fetal infection. The aim of this study was to follow the course of leukoencephalopathy in a patient with congenital cytomegalovirus infection. We describe brain magnetic resonance imaging (MRI) findings of a boy with symptomatic congenital cytomegalovirus infection performed at the age of 3 weeks, 13 months, and 4 and 7 years. Neonatal brain MRI showed most of characteristic findings in congenital cytomegalovirus infection with most prominent white matter abnormalities and cortical dysplasia. MRI follow-up images showed that cortical dysgenesis remained unchanged and static, whereas white matter abnormalities evolved over the years. We propose that leukoencephalopathy in congenital cytomegalovirus infection is not only nonprogressive or static but even evolutive and suggests both underlying disruption and delay of myelination. PMID:24453153

  3. 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

  4. Complete video-assisted thoracoscopic surgery (VATS) bronchial sleeve lobectomy

    PubMed Central

    Huang, Jun; Li, Shuben; Hao, Zhexue; Chen, Hanzhang; He, Jiaxi; Xu, Xin; Qiu, Yuan; Dong, Qinglong; Liang, Lixia; Pan, Hui

    2016-01-01

    Background To explore the effectiveness of video-assisted thoracoscopic surgery (VATS) bronchial sleeve resection and reconstruction. Methods The clinical data of patients who had received VATS bronchial sleeve lobectomy in our center from January 2008 to February 2015 were retrospectively analyzed. Results Totally 118 patients (105 men and 13 women) received the VATS bronchial sleeve lobectomy. The procedures included sleeve resection of right upper lobe (n=59), right middle lobe (n=7), right lower lobe (n=8), left upper lobe (n=34), and left lower lobe (n=10). The lesions were confirmed to be squamous cell carcinoma (n=68), adenocarcinoma (n=16), mucoepidermoid carcinoma (n=8), adenosquamous carcinoma (n=7), large cell carcinoma (n=1), carcinoids (n=5), and others (n=13; including small cell carcinoma, pleomorphic carcinoma, and inflammatory myofibroblastic tumor). Operations lasted 118–223 min [mean ± standard deviations (SD): 124.00±31.75 min]. The length of removed bronchus was 1.50–2.00 cm (mean ± SD: 1.75±0.26 cm). The duration of bronchial anastomosis (from the first puncture to the completion of knotting) was 15–42 min (mean ± SD: 30.20±7.97 min). The number of dissected lymph node stations (at least three mediastinal lymph node stations, including station 7) was 5–9 stations (mean ± SD: 6.50±1.18 min). The number of dissected lymph nodes was 10–46 (mean ± SD: 26.00±10.48). The intraoperative blood loss was 20–400 mL (mean ± SD: 71.00±43.95 mL), and no blood transfusion was performed. All patients were observed in intensive care unit (ICU) for 1 day. Postoperative drainage was performed for 3–8 days (mean ± SD: 5.00±1.49 days). Postoperative hospital stay was 3–8 days (mean ± SD: 5.10±2.07 days). Conclusions VATS bronchial sleeve resection and reconstruction is a safe and feasible technique. PMID:27076954

  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. Aortic ostia of the bronchial arteries and tracheal bifurcation: MDCT analysis

    PubMed Central

    Ziyawudong, Julaiti; Kawai, Nobuyuki; Sato, Morio; Ikoma, Akira; Sanda, Hiroki; Takeuchi, Taizo; Minamiguchi, Hiroki; Nakai, Motoki; Tanaka, Takami; Sonomura, Tetsuo

    2012-01-01

    AIM: To explore the anatomical relationships between bronchial artery and tracheal bifurcation using computed tomography angiography (CTA). METHODS: One hundred consecutive patients (84 men, 16 women; aged 46-85 years) who underwent CTA using multi-detector row CT (MDCT) were investigated retrospectively. The distance between sites of bronchial artery ostia and tracheal bifurcation, and dividing directions were explored. The directions of division from the descending aorta were described as on a clock face. RESULTS: We identified ostia of 198 bronchial arteries: 95 right bronchial arteries, 67 left bronchial arteries, 36 common trunk arteries. Of these, 172 (87%) divided from the descending aorta, 25 (13%) from the aortic arch, and 1 (0.5%) from the left subclavian artery. The right, left, and common trunk bronchial arteries divided at -1 to 2 cm from tracheal bifurcation with frequencies of 77% (73/95), 82% (54/66), and 70% (25/36), respectively. The dividing direction of right bronchial arteries from the descending aorta was 9 to 10 o’clock with a frequency of 81% (64/79); that of left and common tract bronchial arteries was 11 to 1 o’clock with frequencies of 70% (43/62) and 77% (24/31), respectively. CONCLUSION: CTA using MDCT provides details of the relation between bronchial artery ostia and tracheal bifurcation. PMID:22328969

  7. Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007.

    PubMed

    Kancherla, Vijaya; Romitti, Paul A; Sun, Lixian; Carey, John C; Burns, Trudy L; Siega-Riz, Anna Maria; Druschel, Charlotte M; Lin, Angela E; Olney, Richard S

    2014-04-01

    Choanal atresia causes serious posterior nasal obstruction. This defect is the leading cause of nasal surgery in newborns, although its etiology is largely unknown. Data from the National Birth Defects Prevention Study, a population-based case-control study, were used to examine associations between maternal self-reports of exposures and occurrence of choanal atresia in their offspring. Overall, 117 case and 8350 control mothers with deliveries from 1997 through 2007 provided telephone interview reports of pre-pregnancy (one year before conception) and periconceptional (one month before through three months after conception) exposures. The exposures analyzed were pre-pregnancy dietary intake, pre-pregnancy and periconceptional caffeine consumption, and periconceptional cigarette smoking, alcohol drinking, and medication use. Independent associations between each exposure and all choanal atresia cases combined (n = 117) and isolated choanal atresia cases (those without additional unrelated major defects; n = 61) were examined. Odds ratios (ORs), both unadjusted (uORs) and adjusted (aORs) for potential confounders, and 95% confidence intervals (CIs) were estimated using unconditional logistic regression analysis. For all choanal atresia cases combined, positive associations were observed with maternal pre-pregnancy intake in the highest quartile for vitamin B-12 (aOR = 1.9; CI = 1.1,3.1), zinc (aOR = 1.7; CI = 1.0,3.1), and niacin (aOR = 1.8; CI = 1.0,3.1), and intake in the lowest quartile for methionine (aOR = 1.6; CI = 1.0,2.6) and vitamin D (aOR = 1.6; CI = 1.0,2.4) compared to intake in the two intermediate quartiles combined. Further, a positive association was observed with periconceptional use of thyroid medications (uOR = 2.6; CI = 1.0,6.3) compared to no use of such medications. Among isolated choanal atresia cases, negative associations were observed for pantothenic acid (aOR = 0.4; CI = 0.2,0.9) and fat (aOR = 0.5; 95% CI = 0.2,1.0) intake in the lowest

  8. The epidemiology of cardiovascular defects, part I: a study based on data from three large registries of congenital malformations.

    PubMed

    Pradat, P; Francannet, C; Harris, J A; Robert, E

    2003-01-01

    To analyze complex and noncomplex cardiac malformations regarding prevalence and in relation to demographic variables, we pooled data on infants (age 1 year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. Altogether, 12,932 infants had one or more congenital heart defects out of 4.4 million live births and stillbirths. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. As expected, definitions and ascertained conditions differed among each of the registries. The total rates for severe defects were similar (1.43 per 1,000), but differed for specific defects. Clear differences in epidemiological characteristics existed for specific defects; for example, severe cardiac defects sex ratios were significantly high for hypoplastic left heart syndrome, d-transposition of great vessels, double outlet right ventricle, total anoralous pulmonary venous return, tetralogy of Fallot, and significantly low for pulmonary atresia without ventricular septal defect and endocardial cushion defect. Few defects were similar for several epidemiological characteristics, but, for example, the combination of ventricular and atrial septal defects appeared equivalent with endocardial cushion defect under some circumstances, yet behaved differently with regard to associated noncardiovascular defects. PMID:12632215

  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. Platypnea-Orthodeoxia Syndrome Two Decades after Definitive Surgical Repair of Pulmonary Atresia with Intact Ventricular Septum

    PubMed Central

    Chiu, Ing-Sh

    2016-01-01

    A 20-year-old female had undergone definitive surgical repair for pulmonary atresia with intact ventricular septum soon after birth. She was referred to our institution with the chief complaint of clubbing fingers. A thorough examination revealed platypnea-orthodeoxia syndrome due to an interatrial right-to-left shunt through a secundum atrial septal defect. Percutaneous closure with an Amplatzer Septal Occluder resulted in resolution of the syndrome. PMID:26996585

  12. Interleukin33 Is Required for Disposal of Unnecessary Cells during Ovarian Atresia through Regulation of Autophagy and Macrophage Migration

    PubMed Central

    Wu, Jean; Carlock, Colin; Zhou, Cindy; Nakae, Susumu; Hicks, John; Adams, Henry P.; Lou, Yahuan

    2015-01-01

    Physiological processes such as ovarian follicle atresia generate large amounts of unnecessary cells or tissue detritus, which needs to be disposed of rapidly. Interleukin33 (IL33) is a member of the IL1 cytokine gene family. Consecutive expression of IL33 in a wide range of tissues has hinted at its role beyond immune defense. We have previously reported a close correlation between IL33 expression patterns and ovarian atresia. Here, we demonstrated that IL33 is required for disposal of degenerative tissue during ovarian atresia using Il33−/− mice. Deletion of the Il33 gene impaired normal disposal of atretic follicles, resulting in massive accumulations of tissue wastes abundant with aging-related catabolic wastes such as lipofuscin. Accumulation of tissue wastes in Il33−/− mice, in turn, accelerated ovarian aging and functional decline. Thus, their reproductive lifespan was shortened to 2/3 of that for Il33+/− littermates. IL33 orchestrated disposal mechanism through regulation of autophagy in degenerating tissues and macrophage migration into the tissues. Our study provided direct evidence supporting an expanded role of IL33 in tissue integrity and aging through regulating disposal of unnecessary tissues or cells. PMID:25617473

  13. Application of endoscopic Ho:YAG laser incision technique treating urethral strictures and urethral atresias in pediatric patients.

    PubMed

    Futao, Sun; Wentong, Zhang; Yan, Zhuang; Qingyu, Dong; Aiwu, Li

    2006-06-01

    Endoscopic holmium:yttrium-aluminum-garnet (Ho:YAG) laser incision is a new method applied in pediatric urology recent years. To evaluate its therapeutic efficacy on treating the pediatric patients with urethral strictures and urethral atresias, a retrospective study was performed from June 2001 to July 2005 in a total of 28 pediatric patients who underwent endoscopic internal urethrotomy using Ho:YAG laser in our center. In these patients, 25 had urethral strictures and 3 urethral atresias. Follow-up was done ranging from 2 months to 4 years to assess the treatment. Of the 28 patients, 25 (89.3%) have achieved satisfied result without complications following initial incisions. Two patients with urethral atresias and another with long lesion of stricture (> 2 cm) have postoperative stenosis (10.7%). Among the three reoccurred patients, two were successfully reoperated by Ho:YAG laser and open end-to-end anastomosis, respectively. One patient failed to follow-up. With the advantages of safety, efficacy and minimal invasion, endoscopic Ho:YAG laser incision technique could be used as a primary treatment in urethral stricture patients and is worthy to be popularized further in pediatric surgery. PMID:16736220

  14. 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.

  15. [Congenital myasthenic syndromes; French experience].

    PubMed

    Eymard, Bruno; Hantaï, Daniel; Fournier, Emmanuel; Nicole, Sophie; Sternberg, Damien; Richard, Pascale; Fardeau, Michel

    2014-02-01

    Congenital myasthenic syndromes CMS) form a heterogeneous group of genetic diseases characterized by abnormal neuromuscular transmission. The associated muscular weakness is exacerbated by exertion and usually starts during infancy/childhood In 2002 a national Congenital Myasthenic Syndromes Network was created in France, composed of neurologists, neuropediatricians, pathologists, molecular geneticists and neurobiologists. The network has now identified nearly 300 cases of CMS, as well as three new culprit genes. Based on our personal experience and data from the most recent studies, we describe the 18 principal culprit genes so far identified, along with diagnostic pitfalls, the disease course, prognosis and treatment. The underlying genetic defect remains to be identified in nearly half of CMS patients. PMID:26263703

  16. Surgical correction of congenital megaprepuce.

    PubMed

    Shenoy, M U; Rance, C H

    1999-01-01

    Congenital megaprepuce (CMP) is a rare entity. Two infant boys presented with a tight congenital phimosis resulting in an excessively baggy, urine-filled prepuce and a swollen scrotum. Compression of the scrotum resulted in drainage of urine. We feel this to be a separate entity from a buried penis and recommend early surgery. The phimotic tip of the foreskin was excised and the inner layer preserved to cover the full length of the penile shaft. The outer layer of the foreskin, in reality the penoscrotal junction, was anchored to the base of the penile shaft. A V-shaped edge of ventral skin was excised and the edges approximated, giving the appearance of median raphe. The final appearance was that of a circumcised penis. A third patient awaits operation. PMID:10631746

  17. [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. PMID:26115799

  18. Congenital Anomalies of the Nose.

    PubMed

    Funamura, Jamie L; Tollefson, Travis T

    2016-04-01

    Congenital anomalies of the nose range from complete aplasia of the nose to duplications and nasal masses. Nasal development is the result of a complex embryologic patterning and fusion of multiple primordial structures. Loss of signaling proteins or failure of migration or proliferation can result in structural anomalies with significant cosmetic and functional consequences. Congenital anomalies of the nose can be categorized into four broad categories: (1) aplastic or hypoplastic, (2) hyperplastic or duplications, (3) clefts, and (4) nasal masses. Our knowledge of the embryologic origin of these anomalies helps dictate subsequent work-up for associated conditions, and the appropriate treatment or surgical approach to manage newborns and children with these anomalies. PMID:27097134

  19. [Congenital ranula in a newborn].

    PubMed

    Bernhard, M K; Hückel, D; Hamala, D

    2007-05-01

    Ranulas are cystic lesions in the floor of the mouth. They are either retention cysts of the excretory duct of the sublingual gland or pseudocysts formed by excretory duct rupture followed by extravasation and accumulation of mucus in the surrounding tissue. We report the case of a premature newborn with a congenital ranula in the floor of mouth. The ranula caused no discomfort or complications, so that immediate intervention was not necessary. The cyst resolved completely by the age of 4 months. Complications in newborns especially include airway obstruction and feeding difficulties. Surgical treatment options are needle aspiration, excision of the ranula, marsupialization, cryosurgery, and--in addition to excision of the cyst--removal of the ipsilateral sublingual gland. Sclerotherapy has shown good results as well. As many congenital cysts resolve or rupture spontaneously, they should be observed for potential resolution for several months in uncomplicated cases. PMID:16770600

  20. Are parenchymal AVMs congenital lesions?

    PubMed

    Morales-Valero, Saul F; Bortolotti, Carlo; Sturiale, Carmelo; Sturiale, Carmelo L; Lanzino, Giuseppe

    2014-09-01

    A long-held dogma in neurosurgery is that parenchymal arteriovenous malformations (AVMs) are congenital. However, there is no strong evidence supporting this theory. An increasing number of documented cases of de novo formation of parenchymal AVMs cast doubt on their congenital nature and suggest that indeed the majority of these lesions may form after birth. Further evidence suggesting the postnatal development of parenchymal AVMs comes from the exceedingly rare diagnosis of these lesions in utero despite the widespread availability of high-resolution imaging modalities such as ultrasound and fetal MRI. The exact mechanism of AVM formation has yet to be elucidated, but most likely involves genetic susceptibility and environmental triggering factors. In this review, the authors report 2 cases of de novo AVM formation and analyze the evidence suggesting that they represent an acquired condition. PMID:25175439

  1. Congenital scoliosis – Quo vadis?

    PubMed Central

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

    2010-01-01

    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

  2. Congenital malformations in diabetic offspring.

    PubMed

    Temesio, P; Belitzky, R; Gallego, L; Martell, M; Pose, S V

    1977-01-01

    A retrospective study of 215 deliveries in diabetic mothers at Hospital de Clínicas (Montevideo, Uruguay) has been performed. Presence of congenital malformations (CM) was considered in relation to age of the mothers, class of maternal diabetes, maternal angiopathy, treatment and metabolic control. The prevalence of CM in the series was 9.8%. None of the factors analyzed seems to be statistically linked to the prevalence of CM. PMID:613685

  3. 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

  4. Anoctamin 1 dysregulation alters bronchial epithelial repair in cystic fibrosis.

    PubMed

    Ruffin, Manon; Voland, Mélanie; Marie, Solenne; Bonora, Monique; Blanchard, Elise; Blouquit-Laye, Sabine; Naline, Emmanuel; Puyo, Philippe; Le Rouzic, Philippe; Guillot, Loic; Corvol, Harriet; Clement, Annick; Tabary, Olivier

    2013-12-01

    Cystic fibrosis (CF) airway epithelium is constantly subjected to injury events due to chronic infection and inflammation. Moreover, abnormalities in CF airway epithelium repair have been described and contribute to the lung function decline seen in CF patients. In the last past years, it has been proposed that anoctamin 1 (ANO1), a Ca(2+)-activated Cl(-) channel, might offset the CFTR deficiency but this protein has not been characterized in CF airways. Interestingly, recent evidence indicates a role for ANO1 in cell proliferation and tumor growth. Our aims were to study non-CF and CF bronchial epithelial repair and to determine whether ANO1 is involved in airway epithelial repair. Here, we showed, with human bronchial epithelial cell lines and primary cells, that both cell proliferation and migration during epithelial repair are delayed in CF compared to non-CF cells. We then demonstrated that ANO1 Cl(-) channel activity was significantly decreased in CF versus non-CF cells. To explain this decreased Cl(-) channel activity in CF context, we compared ANO1 expression in non-CF vs. CF bronchial epithelial cell lines and primary cells, in lung explants from wild-type vs. F508del mice and non-CF vs. CF patients. In all these models, ANO1 expression was markedly lower in CF compared to non-CF. Finally, we established that ANO1 inhibition or overexpression was associated respectively with decreases and increases in cell proliferation and migration. In summary, our study demonstrates involvement of ANO1 decreased activity and expression in abnormal CF airway epithelial repair and suggests that ANO1 correction may improve this process. PMID:24080196

  5. 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. PMID:26868633

  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. 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

  8. Usefulness of Digital Tomosynthesis for the Detection of Airway Obstruction: A Case Report of Bronchial Carcinosarcoma

    PubMed Central

    Park, Sung-Joon; Choo, Ji Yung; Lee, Ki Yeol; Kim, Je-Hyeong; Choi, Jung-Woo; Yeom, Suk Keu; Kim, Baek Hyun

    2015-01-01

    Bronchial carcinosarcoma is a very rare malignant tumor that is composed of carcinomatous and sarcomatous elements. We describe the first case in which digital tomosynthesis was useful for the evaluation of airway obstruction by bronchial carcinosarcoma that was overlooked on initial chest radiography. PMID:25381829

  9. CYTOTOXICITY OF CHEMICAL CARCINOGENS TOWARDS HUMAN BRONCHIAL EPITHELIAL CELLS EVALUATED IN A CLONAL ASSAY

    EPA Science Inventory

    Survival of human bronchial epithelial cells after administration of four chemical carcinogens was measured in a clonal assay. Human bronchial epithelial cells were obtained from outgrowths of explanted tissue pieces. Serum-free medium was used for both explant culture and clonal...

  10. [Research advances in association between pediatric obesity and bronchial asthma].

    PubMed

    Zhu, Lian; Xu, Zhi-Liang; Cheng, Yan-Yang

    2016-07-01

    This review article introduces the research advances in the pathophysiological mechanism of obesity in inducing pediatric bronchial asthma, including the role of leptin in obesity and asthma, the association of plasminogen activator inhibitor-1 with obesity and asthma, the association of adiponectin and interleukins with obesity and asthma, and the influence of neurotransmitter on asthma. In particular, this article introduces the latest research on the inhibition of allergic asthma through targeting at the nociceptor of dorsal root ganglion and blocking the signaling pathway of the nociceptor. PMID:27412555

  11. [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

  12. [Removal of bronchial foreign bodies by suction with a bronchoscope].

    PubMed

    Mita, Y; Dobashi, K; Saitoh, R; Tsuchiya, S; Nakano, H; Watanabe, S; Makimoto, T; Ishihara, S; Mori, M

    1997-04-01

    We report two cases in which intrabronchial foreign bodies were removed with a fiberoptic bronchoscope. In both cases the foreign body was a seed of a small Japanese apricot. Atelectasis or obstructive pneumonia was seen on chest roentgenograms. The foreign bodies were associated with slight inflammation and polyps on the bronchial epithelium. The foreign bodies were removed by applying suction with a fiberoptic bronchoscope. This method may also be useful for removing other large, hard, uneven, and ball-like foreign bodies. PMID:9212671

  13. 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

  14. Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease.

    PubMed

    Janecke, Andreas R; Heinz-Erian, Peter; Müller, Thomas

    2016-08-01

    Congenital diarrheal disorders (CDDs) represent a group of challenging clinical conditions for pediatricians because of the severity of the presentation and the broad range of possible differential diagnoses. CDDs arise from alterations in the transport of nutrients and electrolytes across the intestinal mucosa, from enterocyte and enteroendocrine cell differentiation and/or polarization defects, and from the modulation of the intestinal immune response. Advances were made recently in deciphering the etiology and pathophysiology of one of these disorders, congenital sodium diarrhea (CSD). CSD refers to an intractable diarrhea of intrauterine onset with high fecal sodium loss. CSD is clinically and genetically heterogeneous. A syndromic form of CSD features choanal and intestinal atresias as well as recurrent corneal erosions. Small bowel histology frequently detects an epithelial "tufting" dysplasia. It is autosomal recessively inherited, and caused by SPINT2 mutations. The nonsyndromic form of CSD can be caused by dominant activating mutations in GUCY2C, encoding intestinal receptor guanylate cyclase C (GC-C), and by autosomal recessive SLC9A3 loss-of-function mutations. SLC9A3 encodes Na/H antiporter 3, the major intestinal brush border Na/H exchanger, and a downstream target of GC-C. A number of patients with GUCY2C and SLC9A3 mutations developed inflammatory bowel disease. Both the number of recognized CDD forms as well as the number of underlying disease genes are gradually increasing. Knowledge of these CDD genes enables noninvasive, next-generation gene panel-based testing to facilitate an early diagnosis in CDD. Primary Na/H antiporter 3 and GC-C malfunction is implicated as a predisposition for inflammatory bowel disease in subset of patients. PMID:26835907

  15. 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

  16. 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

  17. Over 900 oocyte cryopreservation babies born with no apparent increase in congenital anomalies.

    PubMed

    Noyes, N; Porcu, E; Borini, A

    2009-06-01

    Over the past decade, the number of reported live births resulting from oocyte cryopreservation has rapidly increased. To appreciate the true number of children born, verified live births were tabulated and assessed. A literature search was performed; authors were then contacted to verify birth outcomes and provide updates. A database including all verified live born infants was constructed. A total of 58 reports (1986-2008) were reviewed, which included 609 live born babies (308 from slow freezing, 289 from vitrification and 12 from both methods). Additionally, 327 other live births were verified. Of the total 936 live borns, 1.3% (12) were noted to have birth anomalies: three ventricular septal defects, one choanal and one biliary atresia, one Rubinstein-Taybi syndrome, one Arnold-Chiari syndrome, one cleft palate, three clubfoot and one skin haemangioma. Compared with congenital anomalies occurring in naturally conceived infants, no difference was noted. With more live born data accumulating, this procedure may become mainstream as a fertility preservation option, particularly for women diagnosed with malignancy requiring cytotoxic therapy. A registry would help to assure the safest, most expeditious development of this technology. PMID:19490780

  18. Sensitivity of detection of asbestos bodies in sputa and bronchial washings

    SciTech Connect

    Wheeler, T.M.; Johnson, E.H.; Coughlin, D.; Greenberg, S.D.

    1988-09-01

    While asbestos bodies (ABs) in sputum and/or bronchial washings are highly specific markers for significant asbestos exposure, comparison of the sensitivity between sputum cytology and bronchial washing cytology for the detection of ABs had not been documented. Review of the files of the Cytopathology Laboratory, Methodist Hospital, Houston, Texas, for the period 1973 to 1984 identified 11 patients with slides available for review who (1) had been examined by both sputum cytology and bronchial washing cytology and (2) had at least one specimen positive for ABs. Of the 11 evaluable cases, all had ABs in the bronchial washings but ony 6 had ABs in the sputum. In addition, iron stain (e.g., the Prussian blue stain) was found to be more sensitive than the Papanicolaou stain for the detection of ABs in these cases. These findings indicate that iron-stained bronchial washing specimens should be preferred for the cytologic detection of asbestos exposure.

  19. Congenital talipes equinovarus associated with hereditary congenital common peroneal nerve neuropathy: a literature review.

    PubMed

    Matar, Hosam E; Garg, Neeraj K

    2016-03-01

    We present a unique case of a congenital hereditary common peroneal nerve neuropathy with congenital idiopathic congenital talipes equinovarus that had been treated with the Ponseti method with satisfactory outcome at 5-year follow-up, along with a literature review. PMID:26588839

  20. 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 ...

  1. 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

  2. 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

  3. Monitoring asthma in childhood: lung function, bronchial responsiveness and inflammation.

    PubMed

    Moeller, Alexander; Carlsen, Kai-Hakon; Sly, Peter D; Baraldi, Eugenio; Piacentini, Giorgio; Pavord, Ian; Lex, Christiane; Saglani, Sejal

    2015-06-01

    This review focuses on the methods available for measuring reversible airways obstruction, bronchial hyperresponsiveness (BHR) and inflammation as hallmarks of asthma, and their role in monitoring children with asthma. Persistent bronchial obstruction may occur in asymptomatic children and is considered a risk factor for severe asthma episodes and is associated with poor asthma outcome. Annual measurement of forced expiratory volume in 1 s using office based spirometry is considered useful. Other lung function measurements including the assessment of BHR may be reserved for children with possible exercise limitations, poor symptom perception and those not responding to their current treatment or with atypical asthma symptoms, and performed on a higher specialty level. To date, for most methods of measuring lung function there are no proper randomised controlled or large longitudinal studies available to establish their role in asthma management in children. Noninvasive biomarkers for monitoring inflammation in children are available, for example the measurement of exhaled nitric oxide fraction, and the assessment of induced sputum cytology or inflammatory mediators in the exhaled breath condensate. However, their role and usefulness in routine clinical practice to monitor and guide therapy remains unclear, and therefore, their use should be reserved for selected cases. PMID:26028633

  4. 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

  5. Laser-assisted solder closure of bronchial stumps

    NASA Astrophysics Data System (ADS)

    Oz, Mehmet C.; Williams, Matthew R.; Moscarelli, Richard D.; Kaynar, Murat; Fras, Christian I.; Libutti, Steven K.; Smith, Hillary; Setton, Adrianne J.; Treat, Michael R.; Nowygrod, Roman

    1992-06-01

    Broncho-pleural fistula is a difficult clinical problem without a simple solution. Laser-assisted solder techniques potentially offer a means to precisely fix tissue glues into the fistulae through a bronchoscopic approach. Using a canine model, secondary bronchi were sealed with cryoprecipitate made from solvent/detergent treated plasma (treated to inactivate membrane enveloped virus) mixed with indocyanine green (absorption 805 nm). Diode laser energy (emission 808 nm, 7.3 W/cm2) was applied to the solder until desiccation was observed. Leakage pressures ranged between 18 - 86 mmHg with a mean of 46 +/- 24 mmHg. Laser-assisted solder techniques provide a reliably strong seal over leaking bronchial stumps and use of dye enhancement prevents undesired collateral thermal injury to surrounding bronchial tissue. Solvent/detergent plasma, prepared by methods shown to inactivate large quantities of HIV, HBV, and HCV, is an effective source of cyroprecipitate and should allow widespread use of pooled human material in a clinical setting.

  6. Interactive navigation and bronchial tube tracking in virtual bronchoscopy.

    PubMed

    Heng, P A; Fung, P F; Wong, T T; Siu, Y H; Sun, H

    1999-01-01

    An interactive virtual environment for simulation of bronchoscopy is developed. Medical doctor can safely plan their surgical bronchoscopy using the virtual environment without any invasive diagnosis which may risk the patient's health. The 3D pen input device of the system allows the doctor to navigate and visualize the bronchial tree of the patient naturally and interactively. To navigate the patient's bronchial tree, a vessel tracking process is required. While manual tracking is tedious and labor-intensive, fully automatic tracking may not be reliable. We propose a semi-automatic tracking technique called Intelligent Path Tracker which provides automation and enough user control during the vessel tracking. To support an interactive frame rate, we also introduce a new volume rendering acceleration technique, named as IsoRegion Leaping. The volume rendering is further accelerated by distributed rendering on a TCP/IP-based network of low-cost PCs. With these approaches, a 256 x 256 x 256 volume data of human lung, can be navigated and visualized at a frame rate of over 10 Hz in our virtual bronchoscopy system. PMID:10538342

  7. The role of inflammation in bronchial stump healing.

    PubMed Central

    Scott, R N; Faraci, R P; Goodman, D G; Militano, T C; Geelhoed, G W; Chretien, P B

    1975-01-01

    The roles of inflammatory response and closure technique in the development of bronchopleural fistula were evaluated. Canine bronchial stumps closed with 3-0 silk and studied 14 days later were characterized by a dense inflammatory infiltrate. Stumps closed with 3-0 chromic catgut suture showed a moderate inflammatory response with disintegration of suture material. However, stumps closed with the automatic stapling device (TA-30) showed the best healing and a minimal degree of inflammation. These findings correlated well with leakage pressures. The average leakage pressure for the silk closed stumps was 139.44 mm Hg plus or minus 78.9 SD. This was significantly lower (P less than 0.02) than the average leakage pressure for staple closed stumps (251.25 mm Hg plus or minus 82.9 SD). It is concluded that the minimal amount of inflammation following staple closure will be associated with improved bronchial stump healing and a lower incidence of bronchopleural fistula. Images Fig. 1. Fig. 2. Fig. 3. Fig. 4. PMID:1130855

  8. 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

  9. Role of feeding jejunostomy in major anastomotic disruptions in esophageal atresia: A pilot study

    PubMed Central

    Bawa, Monika; Menon, Prema; Mahajan, Jai K.; Peters, Nitin J.; Garge, Saurabh; Rao, K. L. N.

    2016-01-01

    Aims: To investigate the role of feeding jejunostomy (FJ) in patients of esophageal atresia with anastomotic leak (AL) to decrease the degree of gastroesophageal reflux (GER) and its effect on anastomotic healing. Materials and Methods: Twenty neonates, with major AL and severe GER after primary repair were managed with decompressing gastrostomy and transgastric FJ and analyzed prospectively. Results: Male to female ratio was 1.7:1. Mean birth weight was 2.2 kg. Anastomotic gap ranged from 0 to 4 cm. The amount of leak was more than 20% of nasogastric feeds. Gastrostomy and FJ was done on an average of the 12th postoperative day, after observing the general condition, chest tube output, lung expansion, and ventilatory requirement. There was a drastic reduction in chest tube output and lung expanded in all patients. Average hospital stay was 36 days (8-80 days). Sixty percentage patients were discharged successfully on FJ. Esophagogram demonstrated healing and leak free patency after an average of 1.5 months. GER was noted in seven patients, four developed stricture, and one had pseudodiverticulum in follow-up. Conclusion: Decompressing gastrostomy and FJ can be an alternative to managing major ALs. It helps in healing of anastomotic dehiscence and in preserving the native esophagus. PMID:26862291

  10. Expression of fibroblast growth factor 21 in patients with biliary atresia.

    PubMed

    Li, Dawei; Lu, Tianfei; Shen, Conghuan; Liu, Yuan; Zhang, Jiang; Shan, Yuhua; Luo, Yi; Xi, Zhifeng; Qiu, Bijun; Chen, Qimin; Zhang, Jianjun; Xia, Qiang

    2016-07-01

    Fibroblast growth factor 21 is a critical circulating adipokine involving in metabolic disorders and various liver diseases. This study was performed to investigate whether FGF21 is also associated with the pathophysiology of biliary atresia. Serum FGF21 levels were measured in 57 BA patients and 20 age matched healthy controls. We also examined hepatic FGF21 mRNA expression and FGF21 protein levels in liver tissues obtained from 15 BA patients undergoing liver transplantation and 5 cases of pediatric donation after cardiac death donor without liver diseases by RT-PCR and Western blotting. Patients with BA showed significantly higher serum FGF21 levels than those without BA (554.7pg/mL [83-2300] vs. 124.5pg/mL [66-270], P<0.05). Patients with BA also had significantly higher FGF21 mRNA and protein levels in hepatic tissues than control subjects. Serum FGF21 expression increased corresponding to the severity of liver fibrosis. Furthermore, serum FGF21 levels dropped significantly in BA patients within 6months after liver transplantation and approached baseline in healthy controls (P>0.05). In vivo, FXR knockout could significantly abrogate cholestasis induced FGF21 expression. FGF21 levels in serum and liver tissue increased significantly in BA patients. In vivo, cholestasis could induce FGF21 expression in FXR dependent manner. PMID:27003131

  11. 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

  12. Rotavirus Infection of Human Cholangiocytes Parallels the Murine Model of Biliary Atresia

    PubMed Central

    Coots, Abigail; Donnelly, Bryan; Mohanty, Sujit K; McNeal, Monica; Sestak, Karol; Tiao, Greg

    2012-01-01

    Introduction Biliary atresia (BA) is the leading indication for liver transplantation in the pediatric population. The murine model of BA supports a viral etiology as infection of neonatal mice with rhesus rotavirus (RRV) results in biliary obstruction. Viral infection targets the biliary epithelium and development of the model is viral strain dependent. No study has yet determined if human cholangiocytes are also susceptible to rotaviral infection. We established an in vitro human model utilizing an immortalized human cholangiocyte cell line and primary human cholangiocytes obtained from explanted livers to determine human cholangiocyte susceptibility to rotavirus infection. Methods Replication and binding assays were performed on immortalized mouse (mCL) and human (H69) cells using six different strains of rotavirus. Primary human cholangiocytes were isolated from cadaveric livers, characterized in culture, and infected with RRV which causes BA in mice and another simian strain, TUCH which does not cause BA in mice. Results Immortalized mouse and human cholangiocytes demonstrated similar patterns of infectivity and binding with different strains of rotavirus. Both cell lines produced a significantly higher viral yield with RRV infection than with the other strains tested. In primary human cholangiocytes, which maintained their epithelial characteristics as demonstrated by cytokeratin staining, RRV replicated to a yield 1000 fold higher than TUCH. Conclusions Both immortalized and primary human cholangiocytes are susceptible to RRV infection in a fashion similar to murine cholangiocytes. These novel findings suggest rotavirus infection could have a potential role in the pathogenesis of human BA. PMID:22785360

  13. Complete Preoperative Evaluation of Pulmonary Atresia with Ventricular Septal Defect with Multi-Detector Computed Tomography

    PubMed Central

    Liu, Jingzhe; Li, Hongyin; Liu, Zhibo; Wu, Qingyu; Xu, Yufeng

    2016-01-01

    Objective To compare multi-detector computed tomography (MDCT) with cardiac catheterization and transthoracic echocardiography (TTE) in comprehensive evaluation of the global cardiovascular anatomy in patients with pulmonary atresia with ventricular septal defect (PA-VSD). Methods The clinical and imaging data of 116 patients with PA-VSD confirmed by surgery were reviewed. Using findings at surgery as the reference standard, data from MDCT, TTE and catheterization were reviewed for assessment of native pulmonary vasculature and intracardiac defects. Results MDCT was more accurate than catheterization and TTE in identification of native pulmonary arteries. MDCT is also the most accurate test for delineation of the major aortopulmonary collateral arteries. The inter-modality agreement for evaluation of overriding aorta and VSD were both excellent. In the subgroup with surgical correlation, excellent agreement was found between TTE and surgery, and substantial agreement was also found at MDCT. Conclusion MDCT can correctly delineate the native pulmonary vasculatures and intracardiac defects and may be a reliable method for noninvasive assessment of global cardiovascular abnormalities in patients with PA-VSD. PMID:26741649

  14. 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

  15. In situ end labeling of fragmented DNA in induced ovarian atresia.

    PubMed

    D'Herde, K; De Pestel, G; Roels, F

    1994-01-01

    Apoptosis is studied in a model of induced follicular atresia in the ovary of Japanese quail (Coturnix coturnix japonica) by in situ end labeling of DNA fragments in granulosa cells using two different techniques (incorporation of labeled nucleotides by DNA polymerase I or terminal deoxynucleotidyl transferase). The most remarkable observation related to apoptosis in this model is the predominant cytoplasmic localization of labeled DNA fragments, while DNA fragmentation appears to be absent from compacted chromatin masses of apoptotic nuclei and apoptotic nuclear fragments. Unstained apoptotic bodies are present adjacent to stained ones, so that their detection rate on hematoxylin + eosin stained sections is better than on the in situ end-labeled sections. This suggests that DNA fragmentation is a late even or not obligatory in apoptotic granulosa cell death. In contrast to similar studies on atretic granulosa in mammalian models, the process of apoptosis is asynchronous in the granulosal epithelium, with a majority of nuclei with normal chromatin configuration remaining negative for DNA fragmentation. Finally it is shown that the techniques used are not specific for apoptosis, as DNA fragmentation in necrotic granulosa cells is detected as well. PMID:7654330

  16. Added Value of pH Multichannel Intraluminal Impedance in Adults Operated for Esophageal Atresia.

    PubMed

    Gatzinsky, Vladimir; Andersson, Olof; Eriksson, Anders; Jönsson, Linus; Abrahamsson, Kate; Sillén, Ulla

    2016-04-01

    Background Gastroesophageal reflux (GER) and dysphagia are common following repaired esophageal atresia (EA). The risk of esophagitis and Barrett esophagus is increased compared with the general population. As yet, the causes are not fully explained. Purpose The aim of this study was to investigate how GER, measured by pH multichannel intraluminal impedance (pH-MII), is correlated to the esophageal symptoms and histological findings. Methods Twenty-nine adult subjects operated for EA in Gothenburg from 1968 to 1983 were evaluated with pH-MII, manometry, and gastroscopy. Results pH-MII was performed in 15, manometry in 19, and gastroscopy in 24 subjects. Eleven subjects displayed pathological reflux parameters of any kind, mainly nonacid reflux (10/15). Dysphagia correlated to the number of weakly acidic reflux episodes. Lower esophageal sphincter (LES) incompetence, which correlated to a pathological number of acid reflux episodes (p = 0.012), was noted in 21/24 subjects, but the majority had a normal resting pressure. Esophagitis was present in 14/24, two of whom had Barrett esophagus. Histological changes correlated to the reflux index and the number of weakly acidic reflux episodes (p = 0.028 and 0.040) and tended to correlate to dysphagia (p = 0.052). Conclusion pH-MII adds further information when it comes to explaining what causes symptoms and esophageal histological changes in adults operated for EA. PMID:25643247

  17. A New Era of Laparoscopic Revision of Kasai Portoenterostomy for the Treatment of Biliary Atresia

    PubMed Central

    Murase, Naruhiko; Uchida, Hiroo; Ono, Yasuyuki; Tainaka, Takahisa; Yokota, Kazuki; Tanano, Akihide; Shirota, Chiyoe; Shirotsuki, Ryo

    2015-01-01

    Purpose. Kasai portoenterostomy is the standard therapy for biliary atresia (BA). If Kasai is unsuccessful, there is controversy over whether revision of Kasai restores adequate biliary drainage. Although there are several reports of laparoscopic Kasai (Lap-Kasai), none has described laparoscopic revision (Lap-revision). The purposes of this study were to evaluate the feasibility and efficacy of Lap-revision. Methods. 65 patients underwent open Kasai between November 2001 and November 2013, and 12 patients underwent Lap-Kasai between December 2013 to January 2015. The indications for revision included bile flow cessation and recurrent cholangitis. Clinical data were compared between open and laparoscopic revisions of Kasai. Results. Open revision of Kasai was performed in 20 patients after open Kasai, and Lap-revision was performed in 4 patients after Lap-Kasai. Lap-revision was completed without conversion or major complication in any patient. The bilirubin level was normalized by Lap-revision in all four patients, and three of them were alive with their native liver. Open and laparoscopic revisions of Kasai were comparable in terms of the operation time, blood loss, and surgical outcomes. Conclusion. Lap-revision is a feasible and effective method for the treatment of BA and might herald a new era for the treatment of this disease. PMID:26266251

  18. “Parenteral Nutrition Supplementation in Biliary Atresia Patients Listed for Liver Transplantation”

    PubMed Central

    Sullivan, Jillian S; Sundaram, Shikha S; Pan, Zhaoxing; Sokol, Ronald J

    2011-01-01

    Objective To determine the impact of parenteral nutrition (PN) on outcomes in biliary atresia (BA) patients listed for liver transplantation (LTx). Study Design We retrospectively reviewed charts of all BA patients from 1990 through 2010 at our institution, s/p hepatoportoenterostomy, ≤ 36 months old, and listed for LTx. Initiation of PN was based on clinical indications. Results 25 PN and 22 non-PN subjects (74% female) were studied. Median PN initiation age was 7.7 months, mean duration 86 days, and mean PN energy supplied 77 kcal/kg/day. Prior to PN, triceps skinfold thickness (TSF) and mid-arm circumference (MAC) Z-scores were decreasing. After PN, TSF (p=0.003) and MAC (p<0.0001) improved significantly. The PN group had lower MAC and TSF than non-PN at time of LTx listing. Between listing and LTx, MAC and TSF improved in PN and worsened in non-PN such that both groups had the same Z-scores at LTx. PN group had a higher incidence of GI bleeding and ascites pre-LTx, but there was no difference in pre-LTx bacteremia, and post-LTx days in ICU and patient or graft survival. Conclusions PN improves nutritional status in malnourished BA patients awaiting LTx, which is associated with post-LTx outcomes comparable to those not requiring PN. PMID:21987426

  19. Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Differentiated from Biliary Atresia.

    PubMed

    Gong, Zhenhua; Xu, Wei-Jue; Tian, Guo-Li; Zhang, Ting; Lv, Zhibao

    2016-06-01

    Purpose The aim of this article is to differentiate neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) from biliary atresia (BA) by total hexose. Methods A total of 11 patients with NICCD, 29 patients with BA, and 4,898 children as controls were involved in this study. The blood concentration of amino acids, carnitine, acylcarnitines, and total hexose were measured in dry blood spots (DBS) using tandem mass spectrometry (MS/MS). Results In the patients with NICCD, the blood concentration of the total hexose (15.3 ± 9.0 mmol/L vs. 7.3 ± 2.7 mmol/L; p < 0.001), citrulline (Cit) (197.9 ± 93.7 µmol/L vs. 17.5 ± 7.4 µmol/L; p < 0.001) were higher than those of patients with BA. Using total hexose (> 10 mmol/L), Cit (> 55 µmol/L) to diagnose NICCD, the sensitivity and specificity were 66.7 and 97.8% and 90.0 and 99.1%, respectively, and all of the areas under the receiver-operating characteristic curves were greater than 0.85. Conclusion Elevated total hexose in DBS measured by MS/MS associated with elevated amino acids, especially Cit can be used to diagnose NICCD and differentiate it from BA. PMID:25988746

  20. 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