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Sample records for congenital bronchial atresia

  1. Congenital bronchial atresia with regional emphysema associated with pectus excavatum.

    PubMed Central

    van Klaveren, R J; Morshuis, W J; Lacquet, L K; Cox, A L; Festen, J; Heystraten, F M

    1992-01-01

    Two cases of congenital bronchial atresia with pectus excavatum are reported. Costosternal retraction during the efforts to overcome the airway obstruction due to encroachment on normal lung tissue by the hyperinflated segments may play a part in causing pectus excavatum. Images PMID:1494776

  2. [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.

  3. Microtia and congenital aural atresia.

    PubMed

    Genc, Selahattin; Kahraman, Erkan; Ozel, Halil Erdem; Arslan, Ilker Burak; Demir, Ahmet; Selcuk, Adin

    2012-11-01

    The purpose of this study was to show the clinical characteristics of microtia and congenital aural atresia cases in Turkey and to make the classification. For this purpose, records of 28 patients with microtia who were admitted to the ENT Clinic of Eskisehir Military Hospital, Turkey, between 1995 and 2011 and 3 patients admitted to the ENT outpatient clinic of Kocaeli Derince Education and Research Hospital, Turkey, were analyzed retrospectively. Of the total 31 patients with microtia (35 microtic ears), involvement of the right ear of 20 patients (64.5%), the left ear of 7 patients (22.5%), and bilateral involvement in 4 patients (12.9%) were observed. There was a unilateral involvement in 27 patients (87.1%). According to the Marx grading, 2 patients (5.7%) had grade 1 malformation, 3 (8.6%) had grade 2 malformation, 29 (82.9%) had grade 3 malformation, and 1 (2.9%) had grade 4 malformation (anotia). Although the characteristics of microtia vary in different population, the results in Turkey are consistent with those in the literature.

  4. Bronchial atresia: the hidden pathology within a spectrum of prenatally diagnosed lung masses.

    PubMed

    Kunisaki, Shaun M; Fauza, Dario O; Nemes, Luanne P; Barnewolt, Carol E; Estroff, Judy A; Kozakewich, Harry P; Jennings, Russell W

    2006-01-01

    This study was aimed at determining whether different congenital lung masses represent diverse manifestations of a single developmental abnormality associated with fetal airway obstruction. We conducted a 3-year retrospective review of patients who underwent surgical resection of a prenatally diagnosed lung mass. Prenatal imaging was used to define mass position and its effect on adjacent organs. Lung specimens were examined through careful full-specimen microdissections, as well as by plain and contrast roentgenograms. Twenty-five patients underwent lung resection during this study period. Based on the final pathology reports, 56% were congenital cystic adenomatoid malformations, 12% were congenital lobar emphysemas, 8% were bronchopulmonary sequestrations, and 24% had features of both cystic adenomatoid malformation and bronchopulmonary sequestrations. No bronchogenic cysts were present in this series. Overall, bronchial atresia was identified in 77% of the examined specimens (n = 22) and was associated with all types of lung malformations. Bronchial atresia is a common, unrecognized component of prenatally diagnosed congenital cystic adenomatoid malformations, bronchopulmonary sequestrations, congenital lobar emphysemas, and lesions of mixed pathology. Most congenital lung masses may be part of a spectrum of anomalies linked to obstruction of the developing fetal airway as an underlying component in their pathogenesis.

  5. Fibrous incudostapedial joint in congenital aural atresia.

    PubMed

    Balaker, Ashley E; Roberson, Joseph B; Goldsztein, Hernan

    2014-04-01

    (1) Determine the prevalence of a non-bony or fibrous incudostapedial (IS) joint in the setting of congenital aural atresia. (2) Assess this anomaly's impact on surgical management and associated hearing outcomes. Retrospective chart review. Subspecialty private practice. Operative reports and audiometric data of patients who underwent congenital aural atresia repair by a single surgeon from 2007 to 2011 were reviewed for operative anatomic findings and audiometric outcomes. Two hundred twenty-eight operations on 206 ears were performed. Median age was 5 years old. Fifty-five (26.7%) of these ears had a fibrous IS joint. The severity of this anomaly was graded as mild in 23 ears, moderate in 20 ears, and severe in 12 ears. Mean postoperative pure tone air conduction (PTA2) in the severely fibrous group was 51 compared to 46 in the moderate group (P = .03) and 41 in the mild group (P = .006). Patients with a fibrous IS joint who underwent successful ossicular chain reconstruction (OCR) had a mean postoperative PTA2 of 30, which was a significantly better outcome than in patients with moderately or severely fibrous IS joints who did not have OCR (P < .05). A fibrous IS joint was seen in 27% of patients undergoing repair of congenital aural atresia. The severity of this anomaly has important implications for postoperative hearing results. These findings suggest that ossicular chain reconstruction should be performed in moderately or severely fibrous cases.

  6. Tricuspid atresia

    MedlinePlus

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

  7. 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

  8. Congenital laryngeal atresia associated with partial diaphragmatic obliteration.

    PubMed

    Minior, Victoria K; Gagner, Jean-Pierre; Landi, Kristen; Stephenson, Courtney; Greco, M Alba; Monteagudo, Ana

    2004-02-01

    Laryngeal atresia is a rare, life-threatening congenital malformation. Prenatal sonographic diagnosis has been described; however, in many cases, the precise diagnosis is established only at autopsy. Our aim was to describe an atypical prenatal presentation of congenital laryngeal atresia in which the final diagnosis was made only at autopsy. Sonographic and postmortem examinations were performed on a fetus with bilateral enlarged echogenic lung fields, an everted diaphragm, and polyhydramnios, which were initially noted on prenatal sonography at 26 weeks' gestation. Unfortunately, the mother was lost to follow up at our inner-city clinic, thus precluding a definitive diagnosis. At birth, tracheostomy was not performed because of the anomalous appearance of the neonate and the suspicion of multiple congenital anomalies. Neonatal death occurred after 18 minutes of life. Autopsy revealed laryngeal atresia with a right hemidiaphragmatic defect and multiple other congenital anomalies. This was a rare case with prenatal sonographic findings in a fetus with congenital laryngeal atresia associated with partial diaphragmatic obliteration.

  9. 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

  10. Time-intensity trading in bilateral congenital aural atresia patients.

    PubMed

    Schmerber, Sébastien; Sheykholeslami, Kianoush; Kermany, Mohammad Habiby; Hotta, Shoko; Kaga, Kimitaka

    2005-04-01

    In an effort to examine the rules by which information of bilaterally applied bone-conducted signals arising from interaural time differences (ITD) and interaural intensity differences (IID) is combined, data were measured for continuous 500 Hz narrow band noise at 65-70 dB HL in 11 patients with bilateral congenital aural atresia. Time-intensity trading functions were obtained by shifting the sound image towards one side using ITD, and shifting back to a centered sound image by varying the IID in the same ear (auditory midline task). ITD values were varied from -600 to +600 micros at 200 micros steps, where negative values indicate delays to the right ear. The results indicate that time-intensity trading is present in patients with bilateral aural atresia. The gross response properties of time-intensity trading in response to bone-conducted signals were comparable in patients with bilateral aural atresia and normal-hearing subjects, though there was a larger inter-subject variability and higher discrimination thresholds across IIDs in the atresia group. These results suggest that the mature auditory brainstem has a potential to employ binaural cues later in life, although to a restricted degree. A binaural fitting of a bone-conducted hearing aid might optimize binaural hearing and improve sound lateralization, and we recommend now systematically bilateral fitting in aural atresia patients.

  11. [Relationship between congenital heart disease and bronchial dysplasia].

    PubMed

    Zeng, Shuang-Lin; Li, Ya-Jun; Huang, Ting; Tan, Li-Hua; Mei, Xi-Long; Sun, Jian-Ning

    2011-11-01

    To study the relationship of the incidence of bronchial dysplasia (bronchial anomalous origin and bronchial stenosis) with congenital heart disease. A total of 185 children with congenital heart disease or bronchial dysplasia were enrolled. Bronchial dysplasia was identified by the 64-MSCT conventional scanning or thin slice scanning with three-dimensional reconstruction. Forty-five children (25.3%) had coexisting bronchial dysplasia and congenital heart disease. The incidence rate of bronchial dysplasia in children with congenital heart disease associated with ventricular septal defect was higher than in those without ventricular septal defect (33.7% vs 15.0%; P<0.05). There were no significant differences in the incidence rate of bronchial dysplasia between the children with congenital heart disease who had a large vascular malformation and who did not. Bronchial dysplasia often occurs in children with congenital heart disease. It is necessary to perform a tracheobronchial CT scanning with three-dimensional reconstruction to identify tracheobronchial dysplasia in children with congenital heart disease, especially associated with ventricular septal defect.

  12. Possible role of WT1 in a human fetus with evolving bronchial atresia, pulmonary malformation and renal agenesis.

    PubMed

    Loo, Christine K C; Algar, Elizabeth M; Payton, Diane J; Perry-Keene, Joanna; Pereira, Tamara N; Ramm, Grant A

    2012-01-01

    The association of peripheral bronchial atresia and congenital pulmonary airway malformation (CPAM) has recently been recognised, but the pathology of the lesions evolving together has not been described. We present autopsy findings in a 20 week fetus showing areas of peripheral bronchial destruction and airway malformation consistent with developing CPAM in the right lung supporting a causal relationship between these lesions. This fetus also had congenital heart defect, bilateral renal agenesis and syndactyly. We identified another fetus from our autopsy files, with bilateral renal agenesis, similar right sided pulmonary malformation and cardiac defects. Similar bilateral renal agenesis and defects of the heart and lungs are found in wt1(-/-) mice and we have investigated the expression of WT1 in these fetuses. We hypothesise that the cardiac, liver, renal and possibly lung lesions in these two cases may arise due to mesenchymal defects consequent to WT1 misexpression and discuss evidence for this from the scientific literature. We used immunoperoxidase stains to analyse WT1 expression in autopsy hepatic tissue in both fetuses. We also investigated the expression of α-smooth muscle actin (α-SMA), a marker of activated hepatic stellate cells/myofibroblasts, and desmin in hepatic mesenchyme and compare these findings with control fetuses, without congenital malformations. We found reduced WT1 expression in hepatic mesothelium in both fetuses with malformations. There was also increased expression of α-SMA in liver perisinusoidal cells, as seen in the wt1(-/-) mouse model. We therefore propose that abnormality of WT1 signalling may be an underlying factor, as WT1 is expressed in coelomic lining cells from which mesenchyme is derived in many organs.

  13. HEAR MAPS a classification for congenital microtia/atresia based on the evaluation of 742 patients.

    PubMed

    Roberson, Joseph B; Goldsztein, Hernan; Balaker, Ashley; Schendel, Stephen A; Reinisch, John F

    2013-09-01

    Describe anatomical and radiological findings in 742 patients evaluated for congenital aural atresia and microtia by a multidisciplinary team. Develop a new classification method to enhance multidisciplinary communication regarding patients with congenital aural atresia and microtia. Retrospective chart review with descriptive analysis of findings arising from the evaluation of patients with congenital atresia and microtia between January 2008 and January 2012 at a multidisciplinary tertiary referral center. We developed a classification method based on the acronym HEAR MAPS (Hearing, Ear [microtia], Atresia grade, Remnant earlobe, Mandible development, Asymmetry of soft tissue, Paralysis of the facial nerve and Syndromes). We used this method to evaluate 742 consecutive congenital atresia and microtia patients between 2008 and January of 2012. Grade 3 microtia was the most common external ear malformation (76%). Pre-operative Jahrsdoerfer scale was 9 (19%), 8 (39%), 7 (19%), and 6 or less (22%). Twenty three percent of patients had varying degrees of hypoplasia of the mandible. Less than 10% of patients had an identified associated syndrome. Patients with congenital aural atresia and microtia often require the intervention of audiology, otology, plastic surgery, craniofacial surgery and speech and language professionals to achieve optimal functional and esthetic reconstruction. Good communication between these disciplines is essential for coordination of care. We describe our use of a new classification method that efficiently describes the physical and radiologic findings in microtia/atresia patients to improve communication amongst care providers. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  14. Acquired ear canal cholesteatoma in congenital aural atresia/stenosis.

    PubMed

    Casale, Garrett; Nicholas, Brian D; Kesser, Bradley W

    2014-09-01

    To estimate the prevalence of external auditory canal (EAC) stenosis in patients with congenital aural atresia (CAA) and the prevalence of acquired ear canal cholesteatoma in patients with EAC stenosis and to identify risk factors that may predict the presence of ear canal cholesteatoma in those patients. Retrospective chart review. University tertiary referral center. Patients with EAC stenosis with and without acquired ear canal cholesteatoma were identified from the medical records of 673 patients (770 ears) with CAA. Demographic data, symptoms at presentation, and audiometric data were compared between those with and those without cholesteatoma to identify the risk factors for the presence of ear canal cholesteatoma. Of the 770 ears evaluated, 101 (13.1%) were found to have at least 1 stenotic ear canal. Of this group of 101 ears with canal stenosis, 18 of 94 ears (7 ears were missing data; 19.1%) had a concurrent cholesteatoma, with 1 patient having bilateral cholesteatomas. Demographic, clinical, and audiometric parameters showed that only female sex was associated with a higher rate of ear canal cholesteatoma. Within the cholesteatoma group, right ears in female patients and left ears in male patients predominated. Approximately 1 in 5 patients with congenital aural stenosis were found to have ear canal cholesteatoma. Female sex is a risk factor; basic audiometric parameters provide no diagnostic utility in distinguishing ears with cholesteatoma from those without cholesteatoma.

  15. Is There a Right Ear Advantage in Congenital Aural Atresia?

    PubMed

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

    2016-12-01

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

  16. Long-term respiratory complications of congenital esophageal atresia with or without tracheoesophageal fistula: an update.

    PubMed

    Kovesi, T

    2013-01-01

    Despite early surgical repair, congenital esophageal atresia with or without tracheoesophageal fistula (EA ± TEF) has long-term effects on respiratory and gastrointestinal function. This review updates summarizes research published since 2003 on long-term respiratory complications in patients with a history of EA ± TEF. Pulmonary hypoplasia appears to not be rare in patients with EA ± TEF. Tracheomalacia is common and is associated with respiratory symptoms in childhood. Aspiration, associated with esophageal dysmotility and/or gastroesophageal reflux, may lead to reduced pulmonary function and bronchiectasis. Pulmonary function is generally normal, although lower than in control patients, and restrictive defects tend to be commoner than obstructive defects. Abnormal airway reactivity is common and, along with respiratory symptoms, is associated with atopy. However, the inflammatory profile in EA ± TEF patients based on bronchial biopsies and exhaled nitric oxide differs from typical allergic asthma. Recent studies suggest that in older patients, respiratory symptoms tend to be associated with atopy, but abnormal lung function tends to be associated with gastroesophageal reflux and with chest wall abnormalities. Early detection and management of aspiration may be important to help prevent decrements in pulmonary function and serious long-term complications in EA ± TEF patients.

  17. Congenital bronchopulmonary foregut malformation initially diagnosed as esophageal atresia type C: challenging diagnosis and treatment.

    PubMed

    Boersma, Doeke; Koot, Bart G; van der Griendt, Erik Jonas; van Rijn, Rick R; van der Steeg, Alida F

    2012-10-01

    Communicating bronchopulmonary foregut malformations are extremely rare congenital malformations, characterized by a communicating fistula between an isolated part of the respiratory system and the esophagus or the stomach. In this article, we present a case of esophageal atresia type C, later diagnosed as a rare form of a communicating bronchopulmonary foregut malformation, an esophageal atresia combined with right main bronchus originating from the lower esophagus. Therapeutic resection of the right lung was complicated by postpneumonectomy syndrome.

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

    PubMed

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

    2015-04-01

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

  19. Inner ear anomalies in children with isolated unilateral congenital aural atresia.

    PubMed

    Halle, Tyler R; Soares, Bruno P; Todd, N Wendell

    2017-04-01

    We aim to define the frequencies of anomalies of the inner ear, oval window, and round window ipsilateral to isolated non-syndromic unilateral aural atresia. Retrospective case series. We reviewed high resolution computed tomography scans of the temporal bones of 70 children with isolated non-syndromic unilateral congenital aural atresia. Scans were reviewed according to the Jahrsdoerfer criteria and further evaluated for anomalies of the vestibule, semi-circular canals, cochlea, internal auditory canal and vestibulocochlear nerve. Inner ear dysplasia was seen in two of 70 atretic ears: one with a dysmorphic lateral semicircular canal and another with a large vestibule assimilating the lateral semicircular canal. Abnormalities of the oval window and round window ipsilateral to the atresia were identified in 21% (15) and 7% (5), respectively, of the atretic ears. Oval window and round window abnormalities were associated with disproportionately lower Jahrsdoerfer scores compared to aural atresia patients without these abnormalities (P < 0.001 and P = 0.04, respectively). Compared to studies that included syndromic or bilateral atresia cases, we found inner ear and oval window abnormalities less common in children with isolated non-syndromic unilateral aural atresia. However, round window anomalies seem to occur at about the same frequency. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. An imaging study of the facial nerve canal in congenital aural atresia.

    PubMed

    Zhao, Shouqin; Han, Demin; Wang, Zhenchang; Li, Jie; Qian, Yanni; Ren, Yuanyuan; Dong, Jiyong

    2015-01-01

    We conducted a prospective study to investigate the abnormalities of the facial nerve canal in patients with congenital aural atresia by computed tomography (CT). Our study population was made up of 99 patients--68 males and 31 females, aged 6 to 22 years (mean: 13.5)--who had unilateral congenital aural atresia without any inner ear malformations. We compared our findings in these patients with those in 50 controls-33 males and 17 females, aged 5 to 22 years (mean: 15.0)-who had normal ears. We classified the congenital aural atresia patients into three groups (A, B, and C) according to their Jahrsdoerfer grading scale score (≥8; 6 or 7; and ≤5, respectively). The course of the facial nerve canal in both the controls and the study patients was determined by temporal bone CT with multiplanar reconstruction. The distances from different parts of the facial nerve canal to surrounding structures were also measured. The course of the facial nerve canal in the normal ears did not vary much, and there were no statistically significant differences according to head side and sex. In groups B and C, the tympanic segment, mastoid segment, and angle of the second genu of the facial nerve canal were all significantly smaller than those of the controls (p < 0.01 in all cases). Statistically, the tympanic segment of the facial nerve canal in patients with congenital aural atresia was downwardly displaced. The mastoid segment of the facial nerve canal in these patients was more anterior than that of the controls. We conclude that congenital aural atresia is often accompanied by abnormalities of the facial nerve canal, especially in the tympanic segment, the mastoid segment, and the second genu. We found that the lower the Jahrsdoerfer score was, the shorter the tympanic segment was and the more forward the mastoid segment was.

  1. Prenatal diagnosis and postnatal management of congenital laryngeal atresia in a preterm infant.

    PubMed

    Colnaghi, M; Condo, V; Gagliardi, L; Mirabile, L; Fumagalli, M; Mosca, F

    2007-05-01

    Laryngeal atresia is a rare congenital cause of high airway obstruction that can lead to death if not correctly recognized and treated at birth. Postnatal management is difficult and the prognosis is often poor. We report a case of prenatal diagnosis of laryngeal atresia in a fetus that was delivered preterm at 29 weeks of gestation. Tracheotomy was performed as an ex utero intrapartum treatment (EXIT) to guarantee patent airway, and laryngotracheoplasty was performed at 22 months of corrected age. A favorable ventilatory and neurodevelopmental outcome was observed at 33 months of age. Copyright (c) 2007 ISUOG.

  2. 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

  3. A study of associated congenital anomalies with biliary atresia

    PubMed Central

    Gupta, Lucky; Bhatnagar, Veereshwar

    2016-01-01

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

  4. 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

  5. [Co-existence of the congenital esophageal atresia and the potential coeliac disease in a child].

    PubMed

    Iwańczak, Barbara; Kosmowska-Miśków, Agnieszka; Jamer, Tatiana; Patkowski, Dariusz

    2015-08-01

    A case of a 4.5-year-old girl from a twin pregnancy, who was diagnosed after birth with the congenital esophageal atresia (type 3), and at the age of 4 with the potential coeliac disease. Congenital esophageal atresia was successfully treated surgically in infancy with the thoracoscopic method. The potential coeliac disease was detected in the child with a correct histopathological examination of intestinal villi and showing no enteropathy symptoms based on the presence of antibodies against tissue transglutaminase and against endomysial antibodies of smooth muscles in serum and the presence of HLA DQ2.5. In the treatment of the potential coeliac disease the girl followed a gluten-free diet.

  6. The influence of trisomy 21 on the incidence and severity of congenital heart defects in patients with duodenal atresia.

    PubMed

    Keckler, Scott J; St Peter, Shawn D; Spilde, Troy L; Ostlie, Daniel J; Snyder, Charles L

    2008-08-01

    Duodenal atresia is associated with a wide variety of congenital malformations. Trisomy 21 occurs in approximately one-thirds of infants with duodenal atresia. Congenital heart disease in patients with trisomy 21 and duodenal atresia is well known. However, the frequency and spectrum of congenital heart defects in infants with duodenal atresia and a normal karyotype has not been outlined in the literature. Therefore, we conducted a retrospective chart review to clarify our knowledge about this population. Retrospective review of the medical record was performed on patients with duodenal atresia/stenosis from January 1995 to September 2007. Demographic data included birth weight and gestational age. Variables of interest included cardiac defects and karyotype. Surgical repair for duodenal and cardiac malformations were reviewed. Ninety-four patients with duodenal atresia/stenosis were identified. Average gestational age was 36 weeks and birth weight was 2,536 g. Trisomy 21 was identified in 39 (41%) patients. Overall, 37 patients (39.3%) had a congenital heart defect. Defects were identified in 24 (61.5%) patients with trisomy 21, when compared to 13 (23.6%) patients with a normal karyotype. Of the patients with congenital heart defects and trisomy 21, 11 (28.2%) required operative repair compared to the 6 (10.9%) patients with a defect and normal karyotype. Therefore, in patients with duodenal atresia, the presence of trisomy 21 carries a relative risk of 2.61 for congenital heart defects, and relative risk of 2.59 for open heart surgery. In patients with duodenal atresia, the presence of trisomy 21 carries a 2.5-fold increased risk of cardiac defect and the same increased risk for repairing a cardiac defect.

  7. Associations Between Pediatric Choledochal Cysts, Biliary Atresia, and Congenital Cardiac Anomalies

    PubMed Central

    Murphy, Andrew J.; Axt, Jason R.; Lovvorn, Harold N.

    2012-01-01

    Background In our institutional experience treating pediatric choledochal cysts over the last 12 years, we noted 7/32 patients (21.9%) had comorbid congenital cardiac anomalies. This association has not been previously described other than in isolated case reports. We aimed to quantify this association on a national level. Materials and Methods We queried the 2009 Healthcare Cost and Utilization Project Kids' Inpatient Database. Patients with a diagnosis of choledochal cyst (ICD-9-CM 75169, 75162, 75160) or biliary atresia (75161) were identified. Cardiac anomalies were defined using the Clinical Classification Software code (CCS 213). Comorbid choledochal cysts or biliary atresia and congenital cardiac anomalies were quantified in both infant (<12 mos) and child (1–18 yrs) subpopulations. Results Of 1,646 estimated discharges for patients with choledochal cysts, 506 (30.7%) were for patients who also had congenital cardiac anomalies, compared to 2.6% in the general hospitalized population (χ2, p<0.0001). The frequency of congenital cardiac anomalies was lower in 1,973 hospitalizations for biliary atresia (13.8%) than in those for patients with choledochal cysts (χ2, p<0.0001). Cardiac anomalies were detected in 44.9% of choledochal cyst hospitalizations for infants <12 months (vs. 3.44% general hospitalized population; χ2, p<0.0001), but in 6.9% of for children ages 1–18 yrs (vs. 1.3% general hospitalized population; χ2, p<0.0001). Conclusions A strong association was observed between pediatric choledochal cysts and congenital cardiac anomalies that more commonly manifests in infancy. When choledochal cysts are diagnosed either prenatally or in infancy, we suggest echocardiographic screening for cardiac anomalies, which may impact timing of surgery and anesthetic planning. PMID:22572617

  8. Percutaneous recanalization and balloon angioplasty of congenital isolated local atresia of the aortic isthmus in adults.

    PubMed

    Joseph, G; Mandalay, A; Rajendiran, G

    2001-08-01

    Congenital isolated local atresia of the aortic isthmus is anatomically similar and morphogenetically related to congenital coarctation of the aorta and was encountered in 4 out of 26 consecutive adult patients selected for coarctation angioplasty at our center. Anterograde recanalization of the atresia was safely and successfully accomplished in all four patients, using a brachial approach. Balloon dilation in the four patients, with ancillary stent implantation in one patient, resulted in reduction of translesion gradient from 84 +/- 11 mm Hg to 9 +/- 7 mm Hg without complications. Angiography in the three non-stented patients after a mean follow-up of 13 months showed no evidence of restenosis, dissection or aneurysm formation, though one patient had mild dilatation of the posterior aspect of the aortic isthmus. The clinical presentation of patients with isolated local aortic atresia, and their short- to mid-term response to percutaneous treatment, is similar to that of patients with isolated severe coarctation of aorta. Copyright 2001 Wiley-Liss, Inc.

  9. Strategies of active middle ear implants for hearing rehabilitation in congenital aural atresia.

    PubMed

    Verhaert, Nicolas; Fuchsmann, Carine; Tringali, Stéphane; Lina-Granade, Geneviève; Truy, Eric

    2011-06-01

    To describe our surgical and audiometric experience using different active middle ear implant strategies facing various anatomic situations in aural atresia. Retrospective case review. Tertiary academic referral center. Five patients with congenital aural atresia, (3 unilateral and 2 bilateral), with mean age of 22.4 years (range, 12-44 yr), referred for hearing rehabilitation. Active middle ear implant on stapes capitulum. Description of surgical implantation with different active middle ear implants. Preoperative and postoperative air conduction, bone conduction, and aided and unaided thresholds and speech scores were measured, at mid to long term. Subjective benefit analysis was determined through the Abbreviated Profile of Hearing Aid Benefit questionnaire. After activation and fitting of the devices, a mean functional gain of 32.5 dB hearing level was measured. Speech tests in quiet showed a mean functional gain of 20.2 dB. Patients had a mean follow-up period of 12 months. No intraoperative or postoperative complications were noted. Furthermore, we reflected on new coupling possibilities, especially in a difficult case with stapes-footplate fixation where no approach of the round window was feasible because of aberrant facial nerve course. Facing anatomic variations in congenital aural atresia, active middle ear implants can provide substantial hearing improvement in safe conditions and open new strategies for hearing rehabilitation.

  10. [Biliary atresia in children].

    PubMed

    Famulski, W; Sobaniec-Lotowska, M; Sulkowski, S; Ostapiuk, H; Kemona, A

    1989-05-01

    Congenital biliary tract atresia was found in 0.58% of children dying in the first year of life. Most frequently atresia included the extrahepatic bile ducts, among them the common bile duct. Five cases (35.7%) had atresia associated with other developmental anomalies, which may suggest a genetic determination of the atresia. The most frequent cause of death of the newborns and infants with congenital biliary tract atresia was bronchopneumonia with associated biliary cirrhosis of the liver.

  11. 22q11.2 microduplication syndrome with congenital aural atresia: a family report.

    PubMed

    Boudewyns, An; van den Ende, Jenneke; Boiy, Tine; Van de Heyning, Paul; Declau, Frank

    2012-06-01

    22q11.2 microduplication syndrome is characterized by a large phenotypic variability including facial dysmorphism, developmental delay, and hearing loss. We describe a family in whom 5 of 11 children were affected by a unilateral or bilateral congenital aural atresia. Four of these 5 carried a 22q11.2 microduplication and had typical dysmorphic features. Computed tomography with 3-D reconstructions allowed for a detailed examination of the middle ear structures and classification of the atresia type. Audiometry revealed a moderately severe conductive hearing loss in accordance with the clinical and computed tomography findings. Detailed examination of the ear is warranted in patients with a 22q11.2 microduplication. When outer ear abnormalities are encountered, an additional workup including audiometry and computed tomography with 3-D reconstructions is required.

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

    PubMed

    Ocak, Z; Ozlu, T; Vural, M

    2013-01-01

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

  13. 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.

  14. Successful pregnancy after uterovaginal anastomosis in patients with congenital atresia of cervix uteri.

    PubMed

    Prorocic, M; Vasiljevic, M; Tasic, L; Brankovic, S

    2012-01-01

    We present a case of successful pregnancy after effective uterovaginal anastomosis in a 26-years-old patient with congenital atresia of the cervix uteri. She spontaneously achieved pregnancy after four years of uterovaginal anastomosis. Gestation was at the eighth lunar month and the delivery was done by cesarean section due to rapidly progressing fetal asphyxia. The patient gave birth to a live healthy male, weighing 1,950 g, with an Apgar score of 5 and 8 at 1 and 5 min, respectively. The postoperative course was uneventful, and leakage of lochia was normal.

  15. Esophageal atresia

    MedlinePlus

    Esophageal atresia (EA) is a congenital defect. This means it occurs before birth. There are several types. In most cases, the ... the lower esophagus and stomach. Most infants with EA have another defect called tracheoesophageal fistula (TEF). This ...

  16. 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

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

    PubMed

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

    2007-04-01

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

  18. Congenital aural atresia and stenosis: surgery strategies and long-term results.

    PubMed

    Li, Chenlong; Zhang, Tianyu; Fu, Yaoyao; Qing, Fenghua; Chi, Fanglu

    2014-07-01

    To compare the patients who underwent surgery for congenital aural atresia (CAA) with congenital aural stenosis (CAS) for the stability of hearing results and complications during long-term follow-up. Retrospective review. Seventy-five CAA patients and fifty CAS patients who underwent congenital meatoplasty with canalplasty and tympanoplasty between 2007 and 2012. Paired comparison analyses detected no significant difference in preoperative ABG but significant changes in postoperative ABG, ΔABG, the number of ABG < 30 dB and ABG < 10 dB between CAA and CAS. Complications such as postoperative stenosis, bony regrowth, external aural canal (EAC) infection, EAC eczema, total deaf, and lateralization of the tympanic membrane (TM) were observed in 61.3% of patients with CAA and 20% of patients with CAS. Chi square test detected significant differences in complications between patients with CAA and CAS (χ(2) = 20.73, p < 0.01). Meatoplasty with canalplasty and tympanoplasty in individuals with CAS can yield reliable and lasting positive hearing results with a low incidence of severe complications. The existence and preoperative condition of patients' TM and EAC skin helped improve hearing results and decrease the incidence of complications. However, the final hearing results and complications required stricter indications for CAA patients.

  19. Congenital right intermediate bronchial stenosis with carina trifurcation: successful management with slide tracheobronchial plasty.

    PubMed

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

    2014-07-01

    Congenital bronchial stenosis is rarely described and is difficult to manage. Here we report two cases of right intermediate bronchial stenosis (stenotic orifice with complete cartilage rings). Both cases were associated with ventricular septal defects, and a "trifurcation" pattern was found in both carinas. Both patients underwent surgical repair of the ventricular septal defects but could not be separated from ventilator support despite successful cardiac operations. Slide tracheobronchial plasty was applied to the right intermediate bronchus and lower trachea. After correction of the bronchial stenosis, both patients could be extubated and live without supplementary ventilation support.

  20. 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

  1. [Congenital atresia of the anterior nares and hypoplasia of the nasal cavity].

    PubMed

    Murawski, E; Gajewski, P

    1995-01-01

    We described a case of congenital atresia of the anterior nares with a minute opening on the right side and underdevelopment of the nasal cavities. The hard palate was flat and the soft palate was normally mobile. Right anophthalmia and microphthalmia of the left eye with iris coloboma were also noted. In order to provide a nasal airway and to enable the newborn to suck and breathe simultaneously the patient was operated on at four days of age. By means of transpalatal approach a nasal cavity was drilled out of solid bone and connected with the small anterior duct. Trough the new created air duct a nasopharyngeal tube was introduced. In spite of that the external nasal orifice was enlarged later, there was an inclination the orifice to collapse due to lack of nostril cartilages, therefore a nasopharyngeal tube still is used. The physical and intellectual development of the now 11-month old infant is normal. Final reconstruction of the external nose will take place later.

  2. 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

  3. Rare de novo copy number variants in patients with congenital pulmonary atresia.

    PubMed

    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

    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). 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. 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.

  4. 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.

  5. [Congenital heart defects with tracheal and bronchial stenoses: surgical treatment with extracorporeal circulation].

    PubMed

    Cordovilla Zurdo, G; Cabo Salvador, J; Sanz Galeote, E; Lassaleta Garbayo, L; Benito Bartolomé, F; Alvarez Díaz, F

    1999-08-01

    We present our experience with the surgical management of congenital cardiac defects when tracheal or bronchial stenosis is present. Concerning pulmonary artery sling, we think that it is necessary to correct the cardiac malformation and trachea-bronchial stenosis at the same time. After surgical correction, if the patient cannot be weaned from mechanical ventilation (10-15 days), it is mandatory to rule out the presence of tracheo-bronchial tree lesions in order to perform surgery without delay. The operation should be performed under cardiopulmonary by-pass at the same time as the surgical correction of the cardiac malformation. We believe that the best technique for localized obstruction is resection of the stenotic area, followed by termino-terminal anastomosis (one case in our patient group). However, when the length of the obstruction is longer, our election is to enlarge the stenotic area with pre-molded cartilage (four cases).

  6. Combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft in patients with congenital atresia of cervix

    PubMed Central

    Zhang, Xuyin; Han, Tiantian; Ding, Jingxin; Hua, Keqin

    2015-01-01

    Objective: The aim of this study was to introduce a new technique which is combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft in patients with congenital atresia of cervix and to evaluate the feasibility and the safety of it. Methods: This is a prospective observational study of 10 patients with congenital atresia of cervix who underwent combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft for cervicovaginal reconstruction from February 2013 to August 2014 in our hospital. All of the surgical procedures were carried out by the same operation team. Patient data were collected including operating time, estimated blood loss, hospital stay post-surgery, complications, total cost, and median vaginal length at 3 month, resumption of menstruation, vaginal stenosis and stricture of the cervix postoperatively. Results: The operative procedure lasted 237±46 (175-380) min. The estimated blood loss was 160±76 (50-300) ml. The hospital stay post-surgery was 12±2 (9-18) days. None of the patients had complications or required a blood transfusion. The mean total cost was $3352±1025. The average vaginal length at 3 month was 8.3±1.1 (8-10) cm. All patients had resumption of menstruation. The patients were followed for a mean of 5±2 (1-10) months. Cervical or vaginal stenosis did not occur in any of the patients. Conclusions: Our experiences of combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft in10 patients with congenital atresia of cervix were positive, with successful results and without complications, and cervical or vaginal stenosis. PMID:26309703

  7. Reconstruction of congenital microtia-atresia: outcomes with the Medpor/bone-anchored hearing aid-approach.

    PubMed

    Romo, Thomas; Morris, Luc G T; Reitzen, Shari D; Ghossaini, Soha N; Wazen, Jack J; Kohan, Darius

    2009-04-01

    Ideal surgery for congenital microtia-atresia would offer excellent cosmetic and hearing rehabilitation, with minimal morbidity. Classic approaches require multiple procedures, including rib cartilage harvest and aural atresia repair. Our facial plastic and otologic team approach incorporates a high-density porous polyethylene (Medpor, Porex Surgical, Newnan, GA) auricular framework, followed by single-stage bone-anchored hearing aid (BAHA) implantation. We evaluated the efficacy, safety, and morbidity of this 2-stage dual system approach. A prospective database of microtia patients was used to identify patients undergoing combined Medpor/BAHA auricular reconstruction and hearing rehabilitation between 2003 and 2006. The first stage involves placement of a Medpor framework beneath a temporoparietal fascia flap, followed by a second-stage procedure for lobule transposition and BAHA implantation. Twenty-five patients (28 ears) were evaluated. Aesthetic quality of the implants was excellent, with a high degree of framework detail visible, and a postauricular crease created in all patients. All patients were satisfied with the cosmetic result. There were no major Medpor complications such as infection, extrusion, loss of implant, or flap necrosis, and a 10.7% incidence of minor complications requiring operative revision. BAHA significantly improved hearing in all patients, with a complication rate of 31.8%, mainly skin overgrowth and cellulitis. The Medpor/BAHA dual plastic-otologic approach to microtia-atresia has produced excellent cosmetic results and hearing outcomes, which compare favorably to traditional microtia-atresia repair. This is a 2-stage aesthetic and functional protocol with an acceptably low rate of complications, which safely and efficiently achieves both aesthetic and functional goals.

  8. MicroRNA-211 causes ganglion cell dysplasia in congenital intestinal atresia via down-regulation of glial-derived neurotrophic factor.

    PubMed

    Xia, Z-Q; Ding, D-K; Zhang, N; Wang, J-X; Yang, H-Y; Zhang, D

    2016-02-01

    MicroRNAs (miRNAs) are known to be involved in normal brain functions and nervous system diseases. Some evidence have pointed to the dysregulation of miRNAs in congenital intestinal atresia. In this study, we investigated the differential expression of miRNAs and the posttranscriptional regulation of glial-derived neurotrophic factor (GDNF) by endogenous miRNA in congenital intestinal atresia. Quantitative real-time PCR and a Western blot were performed to determine the regulation of miRNA and GDNF in patients with congenital intestinal atresia. The results were verified in rat model of intestinal atresia and bone marrow derived stem cell BMSCs-derived into intestinal ganglion cells. The effects of miRNA and GDNF on the cell proliferation and apoptosis of isolated intestinal ganglion cells were detected with an 3-(4,5-dimethylthiazol)-2,5-diphenyl tetrazolium (MTT) assay and a terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) assay, respectively. Only miR-211 was greatly up-regulated in the patients with congenital intestinal atresia. The other miRNAs examined showed no change. Overexpression of miR-211 suppressed the differentiation of BMSCs into intestinal ganglion cells. In retinal ganglion cells (RGC-5 cells), miR-211 regulated the expression of GDNF. The MTT and TUNEL assays revealed that miR-211 overexpression suppressed the cell proliferation of isolated intestinal ganglion cells and that GDNF overexpression reversed the effect of pre-miR-211 on cell proliferation and apoptosis. Our results indicate that overexpression of miR-211 suppresses the differentiation of BMSCs into intestinal ganglion cells by directly down-regulating the expression of GDNF. The findings elucidate the role of miRNA in congenital intestinal atresia. © 2015 John Wiley & Sons Ltd.

  9. 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

    2016-01-01

    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. 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. 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. 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.

  10. Congenital aural atresia: bone-anchored hearing aid vs. external auditory canal reconstruction.

    PubMed

    Bouhabel, Sarah; Arcand, Pierre; Saliba, Issam

    2012-02-01

    To compare the audiologic outcome and feasibility of bone-anchored hearing aid (BAHA) and external auditory canal reconstruction (EACR) surgeries in pediatric patients presenting a congenital aural atresia (CAA). A retrospective chart review of 40 patients operated in our tertiary pediatric care center between 2002 and 2010 was performed. 20 patients underwent EACR, whereas another 20 patients were implanted with a BAHA device. Air conduction (AC), bone conduction (BC), pure tone average (PTA) and speech discrimination score (SDS) were compared preoperatively, and hearing gain (HG) postoperatively at 6 and at 12 months at frequencies of 500, 1000, 2000 and 4000 Hz. Operative time, complications and associated microtia were documented as well. EACR patients were graded retrospectively upon Jahrsdoerfer's classification. Preoperative AC were significantly different between groups, at 500, 1000 and 2000 Hz but not at 4000 Hz. BAHA group compared postoperatively to EACR group showed significantly a superior HG of 46.9 ± 7.0 dB (p<0.001) and of 39.8(7) ± 7.2(6.9)dB (p<0.001) at 6 months and at 1 year, respectively. Moreover, aided air thresholds from the EACR group revealed an audiologic status similar to those of the BAHA group patients, at 6 months and one year postoperatively. Both groups had a similar evolution of their BC, as well as of the incidence of complications. We report one case of transient facial paralysis in the EACR group. Total operative time is significantly lower (p<0.001) for a BAHA implantation (56 ± 21 min) than for EACR surgery (216 ± 174 min). No preoperative or postoperative correlation (Pearson correlation test; p>0.05) was found between patient's Jahrsdoerfer's score and their audiologic outcome. HG does not seem to be influenced by the presence of microtia. EACR, although constituting an attractive option, does not give acceptable results alone. It can however, when combined to conventional air conduction hearing aids, provide excellent

  11. Coronary Ostioplasty for Congenital Atresia of the Left Main Coronary Artery Ostium in a Teenage Boy.

    PubMed

    Sugimoto, Ai; Shiraishi, Shuichi; Moon, Jiyong; Takahashi, Masashi; Tsuchida, Masanori

    2016-11-01

    Atresia of the left coronary artery ostium is extremely rare. We report the case of a 13-year-old boy who played volleyball in school and collapsed with severe chest pain during practice. He was referred to our hospital, and imaging modalities showed atresia of the left main coronary artery ostium. Urgent coronary ostioplasty was performed using a patch of 0.6% glutaraldehyde-treated autologous pericardium. His postoperative course was uneventful, and he has had a normal everyday life without chest pain 8 months postoperatively. Physicians should be aware of the patient's history, as in this case, because prompt imaging diagnosis is essential when there is a high likelihood that the event is related to myocardial ischemia. Since long-term outcome is uncertain even after successful surgical revascularization, close follow-up is required. © The Author(s) 2015.

  12. Management of Duodenal Atresia in the setting of Congenital Leukemia with Massive Hepatomegaly

    PubMed Central

    2013-01-01

    Down's syndrome (DS) is associated with duodenal atresia (DA) in about 8-10% of cases. Transient Myeloproliferative Disorder (TMD)/Acute Myeloid Leukemia (AML) is also associated with the trisomy 21 mutation. The occurrence of the two conditions together complicates the diagnosis and surgical management of the DA. We discuss the technical aspects of management of the DA in this clinical setting. PMID:26023452

  13. Proximal ureteral atresia, a rare congenital anomaly—incidental finding: a case report

    PubMed Central

    Conighi, Maria Luisa; Fasoli, Lorella; Bucci, Valeria; Battaglino, Francesco; Chiarenza, Salvatore Fabio

    2017-01-01

    Ureteral atresia is a rare disease usually associated with a non-functioning dysplastic kidney. The condition may be unilateral or bilateral; focal, short or long and may involve any part of the ureter. Association with other urinary anomalies is rare. We report the case of a 10-month-old boy with prenatal diagnosis of multicystic right kidney. This suspicion was confirmed after birth by ultrasound and static scintigraphy; a right vesicoureteral reflux (VUR) was recorded at cystography. The boy presented a regular renal function but was hospitalized twice for suspected pyelonephritis between the 8th and the 10th month of life and were recorded occasional mild changes in blood pressure. Antibiotic prophylaxis was administered until surgery. When he was 10-month underwent retroperitoneoscopy to perform a nephroureterectomy finding a complete atresia of the upper third of the ureter with the blind end at the level of the uretero-pelvic-junction. The programmed surgery was performed. By a revision of literature, only few cases of imperforate distal ureter have been described. This condition is associated with a kidney dysplasia. The atresia of the ureter with no signs of infection in the dysplastic kidney may be unknown up to adulthood or throughout one’s life. Prognosis usually depends on the severity of the obstruction. PMID:28164035

  14. Proximal ureteral atresia, a rare congenital anomaly-incidental finding: a case report.

    PubMed

    Bleve, Cosimo; Conighi, Maria Luisa; Fasoli, Lorella; Bucci, Valeria; Battaglino, Francesco; Chiarenza, Salvatore Fabio

    2017-01-01

    Ureteral atresia is a rare disease usually associated with a non-functioning dysplastic kidney. The condition may be unilateral or bilateral; focal, short or long and may involve any part of the ureter. Association with other urinary anomalies is rare. We report the case of a 10-month-old boy with prenatal diagnosis of multicystic right kidney. This suspicion was confirmed after birth by ultrasound and static scintigraphy; a right vesicoureteral reflux (VUR) was recorded at cystography. The boy presented a regular renal function but was hospitalized twice for suspected pyelonephritis between the 8th and the 10th month of life and were recorded occasional mild changes in blood pressure. Antibiotic prophylaxis was administered until surgery. When he was 10-month underwent retroperitoneoscopy to perform a nephroureterectomy finding a complete atresia of the upper third of the ureter with the blind end at the level of the uretero-pelvic-junction. The programmed surgery was performed. By a revision of literature, only few cases of imperforate distal ureter have been described. This condition is associated with a kidney dysplasia. The atresia of the ureter with no signs of infection in the dysplastic kidney may be unknown up to adulthood or throughout one's life. Prognosis usually depends on the severity of the obstruction.

  15. The positional relationship between facial nerve and round window niche in patients with congenital aural atresia and stenosis.

    PubMed

    Chen, Keguang; Lyu, Huiying; Xie, Youzhou; Yang, Lin; Zhang, Tianyu; Dai, Peidong

    2016-03-01

    To investigate whether differences existing in the distance between facial nerve (FN) and round window niche opening among congenital aural atresia (CAA), congenital aural stenosis (CAS) and a normal control group and to assess its effect on the round window implantation of vibrant soundbridge, CT images of 10 normal subjects (20 ears), 27 CAS patients (30 ears) and 25 CAA patients (30 ears) were analyzed. The distances from the central point of round window niche opening to the terminal point of the horizontal segment, the salient point of pyramidal segment, the beginning point of the vertical segment, and the vertical segment of the facial nerve (abbreviate as OA, OB, OC, OE, respectively) were calculated based on three-dimensional reconstruction using mimics software. The results suggested that the pyramidal segment of the FN was positioned more closely to round window niche opening in patients with both CAA and CAS groups than that in control group, whereas there was no significant difference between CAA and CAS group (P < 0.05). The vertical portion of the FN was positioned more closely to round window niche opening in the CAA group than those in both the CAS and control groups with statistical significance (P < 0.05). Furthermore, the vertical portion of the FN was positioned more closely to round window niche opening in the CAS group than that in control group (P < 0.05). In conclusion, the dislocation between facial nerve and round window niche in patients with congenital auditory canal malformations could have significant effects on the round window implantation of vibrant soundbridge. Moreover, three-dimensional measurements and assessments before surgery might be helpful for a safer surgical approach and implantation of vibrant soundbridge.

  16. The image variations in mastoid segment of facial nerve and sinus tympani in congenital aural atresia by HRCT and 3D VR CT.

    PubMed

    Wang, Zhen; Hou, Qian; Wang, Pu; Sun, Zhaoyong; Fan, Yue; Wang, Yun; Xue, Huadan; Jin, Zhengyu; Chen, Xiaowei

    2015-09-01

    To find the variations of middle ear structures including the spatial pattern of mastoid segment of facial nerve and the shapes of the sinus tympani in patients with congenital aural atresia (CAA) by using the high-resolution (HR) CT and 3D volume rendered (VR) CT images. HRCT was performed in 25 patients with congenital aural atresia including six bilateral atresia patients (n=25, 21 males, 4 females, mean age 13.8 years, range 6-19). Along the long axis of the posterior semicircular canal ampulla, the oblique axial multiplanar reconstruction (MPR) was set to view the depiction of the round window and the mastoid segment of facial nerve. Volumetric rending technique was used to demonstrate the morphologic features. HRCT and 3D VR findings in atresia ears were compared with those in 19 normal ears of the unilateral ears of atresia patients. On the basic plane, the horizontal line distances between the mastoid segment of the facial nerve and the round window (h-RF) in atresia ears significantly decreased compared to the control ears (P<0.05). There was a significant negative correlation between the sinus tympani area (a-ST) and the distance between the horizontal lines of FN and RW midpoint (h-RF) (P<0.05). The mean area of sinus tympani in atresia group is larger (P<0.05). The shapes of the sinus tympani were classified into three categories: the cup-shaped, the pear-shaped and the boot-shaped. Area measurement indicated that the boot-shaped sinus tympani was a special variation with a large area, which only appears in CAA group. There were a significant difference between the area of the boot-shaped group and the other two groups (P<0.05). The morphologic differences of ST and other middle ear structures can also be observed visually in 3D VR CT images. HRCT and 3D VR CT could help a better understanding of different kinds of variations in mastoid segment of facial nerve and sinus tympani in CAA ears. And it may further help surgeons to make the correct decision

  17. 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. © 2015 Wiley Periodicals, Inc.

  18. Congenital aural atresia treated with floating mass transducer on the round window: 5 years of imaging experience.

    PubMed

    Barillari, M; Cerini, R; Carner, M; Cacciatori, C; Spagnolli, F; Cardobi, N; Mandalà, M; Colletti, L; Colletti, V; Pozzi Mucelli, R

    2012-04-01

    The aim of this paper is to illustrate imaging features of patients affected by congenital aural atresia (CAA) before and after treatment with a Vibrant SoundBridge (VSB) device implanted on the round window. Ten patients (5 males and 5 females; mean age 22.1 years) with CAA underwent preoperative high-resolution computed tomography (HRCT) to estimate the degree of involvement of the middle- and inner-ear structures and highlight radiological landmarks useful for surgical planning. Bilateral CAA, mostly of the mixed type, was present in 7 patients and ossicular chain abnormalities in 16 ears (94% of cases). The round window region was normal in all patients, whereas facial-nerve course and/or caliber abnormalities were present in 6 ears (35.3%). The tympanic cavity was small in 13 ears (76.5%), whereas the mastoid was well pneumatized in 8/17 (47%). HRCT provides accurate information about anatomy and malformations of the middle and inner ear and can thus assist the surgeon in planning the procedure.

  19. 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

  20. New Variant of Esophageal Atresia

    PubMed Central

    Harne, Swapnil; Pathak, Manish; Rattan, Kamal Nayan

    2017-01-01

    Esophageal atresia with tracheoesophageal fistula (EA/TEF) associated with distal congenital esophageal stenosis (CES) is a well-known entity. We encountered three patients of EA/TEF associated with long and unusual CES. PMID:28083495

  1. Congenital Giant Right Coronary Artery to Pulmonary Artery Fistula and Congenital Left Main Coronary Artery Atresia: A Case Report.

    PubMed

    Ding, Ya-Hui; Zou, Hai

    2016-02-01

    Both of congenital giant RCA, RCA to PA fistula, and CLMCA-A are one of exceedingly rare vascular abnormalities. We present the case of a 34-year-old man with multiple congenital coronary anomalies above, and a successful surgical intervention was proceeded for our patient.This is a case of a 34-year-old man presented with apical systolic murmur and exertional chest pain. Furthermore, a dilated left heart and abnormal pulmonary blood flow was observed in this patient. Coronary CTA and selective CAG showed a 15-mm diameter RCA with a fistula to pulmonary trunk and CLMCA-A. During cardiac surgery, the coronary abnormalities were confirmed and the outlet of the fistula was closed. After surgery, less chest pain, respiratory infection, and left heart failure were observed in this patient.This case illustrates that the surgery of closing the fistula between the giant RCA and pulmonary trunk could improve the symptoms and signs for this patient. It could be predicted that simplified operation could be a promising therapy for patient with giant RCA to PA fistula and CLMCA-A. Moreover, CABG should be taken full account of when myocardial ischemia was found in the blood-supply area of LAD.

  2. [Tracheobronchial and pulmonary parenchymatous congenital abnormalities requiring surgical treatment in adults].

    PubMed

    Mordant, P; De Dominicis, F; Berna, P; Riquet, M

    2012-04-01

    Most tracheobronchial and parenchymatous congenital abnormalities of the respiratory system are diagnosed in early life. However, some lesions may be initially silent and diagnosed only in adulthood. These cases included congenital abnormalies of the tracheobronchial tract (tracheal and/or bronchial stenosis, bronchogenic cysts, bronchial atresia, oesotracheal fistula, oesobronchial fistula, and tracheal diverticulum), and lung parenchyma itself (pulmonary sequestration, congenital cystic adenomatoïd malformation, lobar emphysema, lobar or lung hypoplasia). To avoid dreadful complications, these rare cases deserve surgical management, and must be known by chest physicians and surgeons. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  3. 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 ...

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

    PubMed

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

    2006-01-01

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

  5. 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.

  6. The role of HRCT and three-dimensional VR CT findings in patients of congenital atresia combined with microtia.

    PubMed

    Gao, Ruzhen; Wang, Yun; Fan, Yue; Ai, Xing; Zhang, Xiaona; Xue, Huadan; Chen, Xiaowei; Jin, Zhengyu

    2012-12-01

    To determine the anatomic differences in patients of atresia by using high-resolution computed tomography (HRCT) and 3D volume rendered (VR) CT. High-resolution computed tomography (HRCT) was performed in 43 atresia patients including 34 unilateral atresia patients (n=34, 26 males, 8 females, mean age 13.82 years, range 8-19 years) and 9 bilateral atresia patients (6 males, 3 females, mean age 13.2 years, range 9-19 years). HRCT and 3D VR findings were compared with those in 43 normal ears of the unilateral atresia patients with normal PTA results (n=34, 26 males, 8 females, mean age 13.82 years, range 8-19 years) and 11 patients with sensorineural hearing loss but with no associated aplasia of the middle and inner ear (n=22, 7 males and 4 females, range 8-20.8 years, median age of 13.4 years) by using the independent one sample T test. On the HRCT images, the angle between the basic line and the tympanic segment of the facial nerve is more acute. And the area of the malleus-incus-joint or the malleus-incus-complex in the diseased ears is smaller than that in the control subjects (P<0.05). The tympanic segment is shorter and the area of the tympanic cavity is smaller in the atresia group, while the diameter of the oval window is also smaller in atresia group than that in the control group (P<0.05). The morphologic differences of the small ossicles and the entire length of the tympanic and mastoid segments can be depicted on a single 3D VR CT image. The facial nerve demonstrates abnormal lateral and anterior displacement in the CAA patients and the area of the Malleus-incus-joint and the tympanic cavity are significantly smaller, and the oval window is much narrower in the control group. HRCT and 3D VR CT provide valuable information about preoperative planning of patients with CAA. Measurements of all the angles and length serve as useful adjunct measurements in determining surgical candidacy. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  7. Fetoscopic and ultrasound-guided decompression of the fetal trachea in a human fetus with Fraser syndrome and congenital high airway obstruction syndrome (CHAOS) from laryngeal atresia.

    PubMed

    Kohl, T; Hering, R; Bauriedel, G; Van de Vondel, P; Heep, A; Keiner, S; Müller, A; Franz, A; Bartmann, P; Gembruch, U

    2006-01-01

    Congenital high airway obstruction syndrome (CHAOS) from laryngeal atresia bears a poor prognosis for hydropic fetuses owing to cardiac failure. We attempted percutaneous fetoscopic and ultrasound-guided tracheal decompression in a hydropic human fetus with CHAOS associated with Fraser syndrome. Percutaneous fetoscopic and ultrasound-guided tracheal decompression was performed using three trocars under general materno-fetal anesthesia at 19 + 5 weeks of gestation. Abnormal fetoplacental blood flow normalized within hours as a result of the intervention. Furthermore, a normalization of lung : heart size and lung echogenicity was observed within days. Resolution of hydrops was complete within 3 weeks. Premature rupture of membranes and premature contractions prompted emergency delivery of the fetus by ex-utero intrapartum treatment (EXIT) at 28 + 2 weeks of gestation. Following delivery, the lungs could be ventilated at low pressures and ambient oxygen concentration. Weaning from ventilation was achieved at 18 days of postnatal life. Our experience indicated that percutaneous fetoscopic and ultrasound-guided decompression of the fetal trachea is feasible and may permit normalization of hemodynamics in hydropic human fetuses with CHAOS from laryngeal atresia. The procedure may also result in normalization of heart : lung size and provide the time needed to regain the function of the overstretched diaphragm in this grave fetal condition.

  8. [Report of a case of congenital vesico-uterine fistula with vaginal atresia associated with an exterior uterine cervix and agenesis of the right kidney].

    PubMed

    Daskalov, I; Sahpazov, M

    1982-01-01

    In a 27-year-old patient with cyclic hematuria a complex congenital malformation was diagnosed: the atresia of the upper third of the vagina and the external uterine cervix, a vesico-uterine fistula, and agenesis of the right kidney. The patient was treated surgically in two phases: first, the vesico-uterine fistula was closed abdominally and then, vaginally, the cervix was lowered down to its normal anatomic site and the external cervical orifice was opened. The postoperative course was normal and the patient was discharged from hospital 20 days after surgery. After 2 months the findings of the follow-up examination were normal, and so were the menstrual cycle and urination.

  9. Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.

    PubMed

    Chen, Emily; Obolensky, Elise; Rauen, Katherine A; Shaffer, Lisa G; Li, Xu

    2008-11-01

    We describe a 14-year-old boy with congenital bilateral cataracts, blepharophimosis, ptosis, choanal atresia, sensorineural hearing loss, short, webbed neck, poor esophageal motility, severe growth and mental retardation, skeletal anomalies, seizures, and no speech. As an infant, he had transient hypogammaglobulinemia requiring IVIG therapy. Cytogenetic studies show an apparently de novo visible duplication at 1p36.3. Fluorescence in situ hybridization (FISH) studies confirm that the common region for the 1p36 deletion syndrome (p58) is duplicated. Probes for D1Z2 at 1p36.3 and the subtelomeric region of 1p (TEL1p) are also duplicated. Array comparative genomic hybridization (aCGH) studies were done at three separate laboratories, each with somewhat different results. BAC whole genome array CGH suggests a single clone gain at the 1p terminus and a single clone deletion at 1p36.3. A targeted BAC array panel with higher resolution at the distal 1p36 region detects a telomeric duplication and an interstitial deletion. Oligonucleotide whole genomic aCGH shows the highest resolution and a more complex rearrangement: two duplications, an interstitial deletion, and a normal region. The MMP23A/B "matrix metalloproteinase 23A/B" genes are within the distal duplication region in our patient, and this patient does not have craniosynostosis. This is the first association of congenital cataracts, choanal atresia, and transient immune abnormalities with 1p36 duplication/deletion. This case illustrates the limitations of different cytogenetic technologies, and shows how three separate aCGH platforms allow for refined delineation and interpretation of the complex cytogenetic rearrangement which would not have been discovered by standard high-resolution chromosome analysis.

  10. Tricuspid atresia with absent pulmonary valve and intact ventricular septum: intrauterine course and outcome of an unusual congenital heart defect.

    PubMed

    Lato, K; Gembruch, U; Geipel, A; Lachmann, R; Schneider, M; Hraska, V; Berg, C

    2010-02-01

    The extremely rare syndrome including absent pulmonary valve associated with membranous tricuspid atresia or severe tricuspid stenosis, intact ventricular septum and patent ductus arteriosus has been reported sporadically in the postnatal literature. This cardiac defect is characterized by right ventricular dysplasia with asymmetrical ventricular septal hypertrophy, ventricular septum bulging into the left ventricle, small right ventricular cavity, membranous tricuspid atresia or severe stenosis with abnormal papillary muscles and leaflets and absence of the pulmonary valve leaflets. The only prenatal case reported so far was diagnosed at 33 weeks of gestation and terminated shortly thereafter; the natural history of prenatally diagnosed cases is therefore unknown. We report on the intrauterine course of a case diagnosed at 17 weeks of gestation that had a favorable postnatal outcome after palliation.

  11. Right-sided congenital diaphragmatic hernia, hepatic pulmonary fusion, duodenal atresia, and imperforate anus in an infant.

    PubMed

    Castle, Shannon L; Naik-Mathuria, Bindi J; Torres, Manuel B

    2011-07-01

    We present a case of a neonate with VACTERL-like association, with the VACTERL association defined as the non-random association of vertebral, anal, cardiac, esophageal, renal/kidney, and limb defects, as manifested by a hemivertebra, imperforate anus, and digit anomalies, in rare association with duodenal atresia and right-sided diaphragmatic hernia. This constellation is previously undescribed and may offer insight into the pathogenesis of VACTERL and associated birth defects.

  12. 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 Outlook (Prognosis) ...

  13. Understanding speech in noise after correction of congenital unilateral aural atresia: effects of age in the emergence of binaural squelch but not in use of head-shadow.

    PubMed

    Gray, Lincoln; Kesser, Bradley; Cole, Erika

    2009-09-01

    Unilateral hearing loss causes difficulty hearing in noise (the "cocktail party effect") due to absence of redundancy, head-shadow, and binaural squelch. This study explores the emergence of the head-shadow and binaural squelch effects in children with unilateral congenital aural atresia undergoing surgery to correct their hearing deficit. Adding patients and data from a similar study previously published, we also evaluate covariates such as the age of the patient, surgical outcome, and complexity of the task that might predict the extent of binaural benefit--patients' ability to "use" their new ear--when understanding speech in noise. Patients with unilateral congenital aural atresia were tested for their ability to understand speech in noise before and again 1 month after surgery to repair their atresia. In a sound-attenuating booth participants faced a speaker that produced speech signals with noise 90 degrees to the side of the normal (non-atretic) ear and again to the side of the atretic ear. The Hearing in Noise Test (HINT for adults or HINT-C for children) was used to estimate the patients' speech reception thresholds. The speech-in-noise test (SPIN) or the Pediatric Speech Intelligibility (PSI) Test was used in the previous study. There was consistent improvement, averaging 5dB regardless of age, in the ability to take advantage of head-shadow in understanding speech with noise to the side of the non-atretic (normal) ear. There was, in contrast, a strong negative linear effect of age (r(2)=.78, selecting patients over 8 years) in the emergence of binaural squelch to understand speech with noise to the side of the atretic ear. In patients over 8 years, this trend replicated over different studies and different tests. Children less than 8 years, however, showed less improvement in the HINT-C than in the PSI after surgery with noise toward their atretic ear (effect size=3). No binaural result was correlated with degree of hearing improvement after surgery. All

  14. Alimentary Tract Atresias associated with Anorectal Malformations: 10 Years' Experience

    PubMed Central

    Saha, Manoj

    2016-01-01

    Anorectal malformation (ARM) is one of the most common congenital anomaly that requires emergency surgery in the neonatal period. ARMs are frequently associated with other life threatening congenital anomalies. Commonly associated anomalies are genito-urinary, cardiovascular, gastro-intestinal, skeletal and spinal. Alimentary tract anomalies are frequently masked by the intestinal obstruction produced by the anorectal atresia. This retrospective study was carried out to find out the incidence of associated alimentary tract atresias with ARM. In our series, out of 785 cases of high ARM, 14 cases had associated esophageal atresia (1.8%), followed by 7 cases of duodenal atresia (0.89%), and followed by pyloric atresia, jejuno-ileal atresia and colonic atresia. PMID:27896151

  15. Congenital atresia of portal vein with portocaval shunt associated with cardiac defects, skeletal deformities, and skin lesions in a boy.

    PubMed

    Singhal, Manphool; Lal, Anupam; Thapa, Babu R; Prakash, Mahesh; Shanbhogue, Krishna P; Khandelwal, Niranjan

    2008-08-01

    Congenital absence of portal vein is a rare anomaly that results from aberrant venous development in early embryonic life. The intestinal and splenic venous drainage bypass the liver and may drain directly into inferior vena cava or the left renal vein or the left hepatic vein. This rare anomaly is commonly associated with other congenital malformations and generally limited to females. We describe a rare case of aberrant portal vein development with congenital portocaval shunt (end-to-side) in a 3.5-year male child associated with cardiac defects (atrial and ventricular septal defects), skeletal deformities (flexion deformity and clinodactyly of digits and toes), and lichen planus with café au lait macules of skin.

  16. The Correlation Between Pre and Postoperative Hearing Level with High Resolution Computed Tomography (HRCT) Findings in Congenital Canal Atresia (CAA) Patients.

    PubMed

    Asma, A; Abdul Fatah, A W; Hamzaini, A H; Mazita, A

    2013-12-01

    In managing patient with congenital congenital aural atresia (CAA), preoperative high resolution computed tomography (HRCT) scan and hearing assessment are important. A grading system based on HRCT findings was first introduced by Jahrsdoefer in order to select appropriate candidates for operation and to predict the postoperative hearing outcome in CAA patients. The score of eight and more was considered as a good prognostic factor for hearing reconstruction surgery. However previously in our center this score was not used as the criteria for surgical procedure. This study was conducted at Center A to evaluate the correlation between pre and postoperative hearing level with HRCT based on a Jahrsdoefer grading system in patients with CAA. All records and HRCT films with CAA from January 1997 until December 2007 at Center A were evaluated. The demographic data, operative records, pre and post operative hearing levels and HRCT findings were analyzed. Hearing level in this study was based on a pure tone average of air-bone gap at 500 Hz, 1 kHz and 2 kHz or hearing level obtained from auditory brainstem response eudiometry. This study was approved by Research Ethics Committee (code number, FF-197-2008). Thirty-two ears were retrospectively evaluated. The postoperative hearing level of 30 dB and less was considered as successful hearing result postoperatively. Of the six ears which underwent canalplasty, three had achieved successful hearing result. However, there was no significant correlation between preoperative hearing level (HL) with HRCT score and postoperative HL with HRCT score at 0.05 significant levels (correlation coefficient = -0.292, P = 0.105 and correlation coefficient = -0.127, P = 0.810) respectively. Hearing evaluation and HRCT temporal bone are two independent evaluations for the patients with CAA before going for hearing reconstructive surgery.

  17. Colonic Atresia: Association with Other Anomalies

    PubMed Central

    El-Asmar, Khaled M.; Abdel-Latif, Mohammed; El-Kassaby, Abdel-Hamid A.; Soliman, Mohamed H.; El-Behery, Mosad M.

    2016-01-01

    Background: Colonic atresia (CA) is a rare form of congenital intestinal atresia. Although CA may be isolated, it is more commonly reported in literature in association with other congenital anomalies. Materials and Methods: This study is a review of prospectively collected data of all the patients with colonic atresia presented to our center (Ain Shams University) during 2008 to 2016. Results: Twelve patients were enrolled in this study. The atresia was of type I in one case, type II in four cases, type IIIa in six cases, type IV in one case. These cases accounted for 4.9 % of intestinal atresias managed in our center during the same period. Five cases were isolated CA, while the other seven cases had associated abdominal congenital anomalies (exomphalos, Hirschsprung's disease, imperforate anus, closing gastroschisis, colonic duplication, and multiple small bowel atresia in two cases). The management in ten cases was by staged procedure with creation of a temporary stoma initially, while primary anastomosis was established in two cases. We had two cases with delayed presentations, one missed diagnosis, and three mortalities in this series. Conclusions: The low incidence of CA may result in delay in the diagnosis and management. Hirschsprung's disease should be excluded in every case of colonic atresia. Early diagnosis and proper surgical management is essential for good prognosis. PMID:27896155

  18. 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

  19. [Congenital recto-vaginal fistula associated with a normal anus (type H fistula) and rectal atresia in a patient. Report of a case and a brief revision of the literature].

    PubMed

    Fernández Fernández, Jesús Ángel; Parodi Hueck, Luis

    2015-09-01

    Congenital recto-urogenital type fistulas with a normal anus and rectal atresia, represent both anorectal malformations that are infrequently seen in clinical practice. We describe the case of a girl with an association of these two anomalies, together with a double vagina who, on her seventh day of life, expelled feces through her genitals. The malformations were corrected by means of a posterior sagittal approach, descending from the rectum to the anus without perineal dissection. The vaginal septum was resected thru the vulva. There is no evidence of recurrence of the recto-vaginal fistula.

  20. The daily pattern of heart rate, body temperature, locomotor activity, and autonomic nervous activity in congenitally bronchial-hypersensitive (BHS) and bronchial-hyposensitive (BHR) guinea pigs.

    PubMed

    Akita, Megumi; Kuwahara, Masayoshi; Nishibata, Ryoji; Mikami, Hiroki; Tsubone, Hirokazu

    2004-04-01

    We studied the characteristics of the rhythmicity of heart rate (HR), body temperature (BT), locomotor activity (LA) and autonomic nervous activity in bronchial-hypersensitive (BHS) and bronchial-hyposensitive (BHR) guinea pigs. For this purpose, HR, BT, LA, and electrocardiogram (ECG) were recorded from conscious and unrestrained guinea pigs using a telemetry system. Autonomic nervous activity was analyzed by power spectral analysis of heart rate variability. Nocturnal patterns, in which the values in the dark phase (20:00-06:00) were higher than those in the light phase (06:00-20:00), were observed in HR, BT and LA in both strains of guinea pigs. The autonomic nervous activity in BHS guinea pigs showed a daily pattern, although BHR guinea pigs did not show such a rhythmicity. The high frequency (HF) power in BHS guinea pigs was higher than that in BHR guinea pigs throughout the day. Moreover, the low frequency/high frequency (LF/HF) ratio in BHS guinea pigs was lower than that in BHR guinea pigs throughout the day. These results suggest that parasympathetic nervous activity may be predominant in BHS guinea pigs.

  1. [Biliary atresia and polysplenia syndrome].

    PubMed

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

    2015-01-01

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

  2. 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.

  3. Biliary Atresia

    PubMed Central

    Bassett, Mikelle D.; Murray, Karen F.

    2011-01-01

    Extrahepatic biliary atresia (EHBA), an inflammatory sclerosing cholangiopathy, is the leading indication for liver transplantation in children. The cause is still unknown, although possible infectious, genetic, and immunologic etiologies have received much recent focus. These theories are often dependent on each other for secondary or coexisting mechanisms. Concern for EHBA is raised by a cholestatic infant, but the differential diagnosis is large and the path to diagnosis remains varied. Current treatment is surgical with an overall survival rate of approximately 90%. The goals of this article are to review the important clinical aspects of EHBA and to highlight some of the more recent scientific and clinical developments contributing to our understanding of this condition. PMID:18496390

  4. Preduodenal portal vein, malrotation, and high jejunal atresia: a case report.

    PubMed

    Baglaj, Maciej; Gerus, Sylwester

    2012-01-01

    Preduodenal portal vein (PDPV) is a rare congenital anomaly. In most patients, it is associated with other congenital defects including situs inversus, malrotation, and biliary atresia or occurs as part of the heterotaxia syndrome or polysplenia syndrome. We describe a newborn affected by high jejunal atresia, malrotation, and a complex cardiac anomaly, in whom PDPV was diagnosed at early relaparotomy because of stenosis of the jejunal anastomosis. Occurrence of PDPV with intestinal atresia has not been previously reported in the literature.

  5. Tricuspid Atresia

    MedlinePlus

    ... can't do. Keep up with routine well-child care. Standard immunizations are encouraged for children with congenital heart defects, as well as vaccines against the flu, pneumonia and respiratory syncytial virus ... with your child's doctor. Your child may need regular annual appointments ...

  6. 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

  7. Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup.

    PubMed

    Bogs, Thomas; Zwink, Nadine; Chonitzki, Vera; Hölscher, Alice; Boemers, Thomas M; Münsterer, Oliver; Kurz, Ralf; Heydweiller, Andreas; Pauly, Marcus; Leutner, Andreas; Ure, Benno M; Lacher, Martin; Deffaa, Oliver Johannes; Thiele, Holger; Bagci, Soyhan; Jenetzky, Ekkehart; Schumacher, Johannes; Reutter, Heiko

    2017-01-06

    Background Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) represents the most common developmental malformation of the upper digestive tract. It is classified into six subtypes according to the classification of Vogt, depending on anatomical variation of this malformation. Around 50% of the patients with EA/TEF present additional anomalies, which often influence, next to the EA/TEF subtype, the overall prognosis of EA/TEF newborns. Here, we investigated the association of the different EA/TEF subtypes with co-occurring congenital anomalies in EA/TEF patients and demonstrate their implications for postnatal diagnostic workup. Materials and Methods We investigated 333 patients of a large German multicenter study born between 1980 and 2012. After evaluation of all available clinical records, 235 patients were included in our analysis. We compared our results with existing data. Results The highest risk for co-occurring anomalies was seen in patients with most common Vogt 3b (p = 0.024), especially for additional gastrointestinal anomalies (p = 0.04). Co-occurring anomalies of the skin were significantly more common in patients with subtype Vogt 2 (p = 0.024). A significant correlation was observed for an impaired neurodevelopmental outcome and EA/TEF Vogt 3a (p = 0.041). Patients with EA/TEF showed a higher risk to present with any additional congenital anomaly compared with the general population (p < 0.001). Conclusion Our results warrant thorough clinical workup for gastrointestinal anomalies especially in patients with Vogt 3b. Moreover, it might be necessary to focus on a thorough aftercare for neurocognitive development in patients with Vogt 3a. The here presented observations need to be confirmed by future studies.

  8. Atresia of the superior vena cava causing cyanosis and increasing head circumference in an infant.

    PubMed

    Lytrivi, Irene D; Avramidis, Dimosthenis; Sfyridis, Panagiotis; Kirvassilis, George; Sarris, George; Papagiannis, John

    2010-01-01

    We report a case of congenital atresia of the superior vena cava (SVC) with stenotic anastomoses between systemic and pulmonary veins, resulting in cyanosis and symptoms consistent with SVC syndrome in an infant.

  9. [Isolated and syndromic forms of oesophageal atresia - genetic aspects and counselling].

    PubMed

    Smigiel, Robert; Karpiński, Paweł; Patkowski, Dariusz

    2009-01-01

    Oesophageal atresia is a congenital developmental defect of alimentary tract concerning the interruption of oesophagus with or without connection with the trachea. The incidence of oesophageal atresia is 1:3000-3500 of live-born infants. Associated anomalies occur in 50% of patients (syndromic cases). In the rest of the patients with oesophageal atresia these anomalies are isolated (non-syndromic cases). The knowledge of dysmorphic syndromes with oesophageal defects, allows us to diagnose the complex genetic syndromes and to implement the correct treatment and correct genetic counselling concerning the etiology, natural course of the disease, prognosis and possible complications as well as determining the recurrence risk of the disease in the family. The authors describe the chosen embryological, epidemiological and genetic aspects of congenital oesophageal atresia. The clinical aspects, genetic counselling as well as the genetic basis of chosen genetic syndromes with oesophageal atresia are also described in this article.

  10. Objective and Subjective Improvement of Hearing in Noise After Surgical Correction of Unilateral Congenital Aural Atresia in Pediatric Patients: A Prospective Study Using the Hearing in Noise Test, the Sound-Spatial-Quality Questionnaire, and the Glasgow Benefit Inventory.

    PubMed

    Byun, Hayoung; Moon, Il Joon; Woo, Sook-Young; Jin, Sun Hwa; Park, Heesung; Chung, Won-Ho; Hong, Sung Hwa; Cho, Yang-Sun

    2015-01-01

    The aim of this study was to assess the objective and subjective long-term binaural benefits of surgical correction in children with unilateral congenital aural atresia, using an open-set sentence test in noise and subjective questionnaires. A prospective study was performed between August 2010 and February 2013. This study included pediatric patients who had unilateral conductive hearing loss (normal bone conduction hearing) on the atretic side but normal air conduction hearing on the normal side and were scheduled to undergo a primary canaloplasty. Pure-tone audiometry, the hearing in noise test (HINT), and questionnaires (Sound-Spatial-Qualities of Hearing Scale; Glasgow Benefit Inventory [GBI]) were administered preoperatively and at 6 and 12 months postoperatively. Among 34 consecutive patients who initially met enrollment criteria, 26 subjects (23 boys and 3 girls) aged 10 to 16 years (mean 12.3 years) completed this study. Canaloplasty and hearing restoration procedures were performed uneventfully in all patients. The mean air conduction thresholds were significantly improved from 63.9 to 35.0 dB (6 months) and 39.4 dB (12 months) after surgery (p < 0.001). In HINT, speech understanding in noise that was presented toward the newly opened atretic ear significantly improved at 1 year postoperatively (p = 0.014). In noise toward the normal ear, speech understanding significantly improved after surgery, from -0.1 dB preoperatively to -2.0 dB at 6 months (p = 0.002) and -1.8 dB at 12 months (p = 0.005) (p for quadratic trend = 0.036). The composite score improved from -2.6 dB preoperatively to -3.4 dB at 6 months and -3.6 dB at 12 months (p = 0.045; p for linear trend = 0.005). The Sound-Spatial-Qualities of Hearing Scale scores in all domains significantly improved 1 year after surgery (p < 0.034). The mean GBI scores in each domain ranged from 14.2 to 49.4. Total GBI score was correlated with better signal to noise ratio in noise toward the atretic ear as

  11. [The role of genetic and environmental factors in the etiology of esophageal atresia and tracheo-esophageal fistula].

    PubMed

    Bednarczyk, Damian; Śmigiel, Robert; Sąsiadek, Maria Małgorzata

    2014-03-07

    Esophageal atresia and tracheo-esophageal fistula are severe congenital malformations, whose etiology is still poorly understood. So far, numerous genetic and environmental factors that may contribute to the occurrence of these defects have been described and the literature is dominated by the view of their common involvement in the etiology and pathogenesis of congenital esophageal atresia. In this review the authors present current knowledge on the embryogenesis of the esophagus and trachea, discuss environmental risk factors, and also list and describe genetic alterations identified so far in patients with congenital esophageal atresia.

  12. Myoarchitecture and connective tissue in hearts with tricuspid atresia

    PubMed Central

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

    1999-01-01

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

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

  13. Bilateral microtia, canal atresia and aplasia of cochleovestibular nerve.

    PubMed

    Asma, A; Roslenda, A R; Fadzilah, I; Mazita, A; Marina, M B; Ab Aziz, A

    2017-04-01

    A six-month-old baby with congenital patent ductus arteriosus (PDA), bilateral microtia and canal atresia was referred for hearing assessment. The audiology assessment revealed bilateral profound hearing loss, which is atypical for a case of pure canal atresia. Imaging was performed much earlier than usual and, as suspected, the patient also had bilateral severe inner ear anomaly. It is extremely rare for a person to have both external and inner ear anomaly because of the different embryological origin. The only suitable hearing rehabilitation option for this kind of patients is brainstem implant. However, the parents had opted for sign language as a form of communication.

  14. 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.

  15. Current knowledge on esophageal atresia

    PubMed Central

    Pinheiro, Paulo Fernando Martins; Simões e Silva, Ana Cristina; Pereira, Regina Maria

    2012-01-01

    Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is the most common congenital anomaly of the esophagus. The improvement of survival observed over the previous two decades is multifactorial and largely attributable to advances in neonatal intensive care, neonatal anesthesia, ventilatory and nutritional support, antibiotics, early surgical intervention, surgical materials and techniques. Indeed, mortality is currently limited to those cases with coexisting severe life-threatening anomalies. The diagnosis of EA is most commonly made during the first 24 h of life but may occur either antenatally or may be delayed. The primary surgical correction for EA and TEF is the best option in the absence of severe malformations. There is no ideal replacement for the esophagus and the optimal surgical treatment for patients with long-gap EA is still controversial. The primary complications during the postoperative period are leak and stenosis of the anastomosis, gastro-esophageal reflux, esophageal dysmotility, fistula recurrence, respiratory disorders and deformities of the thoracic wall. Data regarding long-term outcomes and follow-ups are limited for patients following EA/TEF repair. The determination of the risk factors for the complicated evolution following EA/TEF repair may positively impact long-term prognoses. Much remains to be studied regarding this condition. This manuscript provides a literature review of the current knowledge regarding EA. PMID:22851858

  16. Anatomical facial nerve findings in 209 consecutive atresia cases.

    PubMed

    Goldsztein, Hernan; Roberson, Joseph B

    2013-04-01

    Describe intraoperative facial nerve findings in 209 consecutive atresia cases. Identify preoperative and intraoperative anatomical variants that should alert the surgeon to potential high-risk facial nerve anatomy. Case series with chart review. Tertiary care subspecialty private practice. Retrospective review of 209 consecutive atresia cases treated between 2007 and 2011. Descriptive analysis of intraoperative findings. Logistical regression models with generalized estimating equations were used to examine the effect of preoperative variables over the operative findings. Two hundred and nine consecutive patients (ages 2-48) underwent atresia repair between 2007 and 2011. Preoperative Jahrsdoerfer Scale was 9 (23%), 8 (42%), 7 (19%), 6 (2%), 5 or less (2%). The facial nerve was found to have an abnormal course in 39% of the cases and not identified in 1%. It was congenitally dehiscent in 53% of cases and was surgically exposed in 10%. The most common site of congenital dehiscence was in the tympanic segment (57%). Facial-stapes contact was found in 11% of cases. The stapedius tendon was absent in 30% of cases. A single patient had a mild transient postoperative paresis (House-Brackmann 2). Atresia repair remains one of the most challenging procedures in otology. In spite of modern preoperative imaging, the facial nerve remains at risk. When performing surgery on patients with preoperative facial nerve paresis and/or lower Jahrsdoerfer scores, the surgeon should be aware of a higher incidence of facial nerve abnormalities. Thorough knowledge of anatomical variations and meticulous surgical technique are mandatory to safely perform these surgeries.

  17. Prenatal presentation and postnatal management of congenital thoracic malformations.

    PubMed

    Bush, Andrew

    2009-11-01

    The antenatal finding of a congenital thoracic malformation (CTM) leads to anxiety in the parents and uncertainty as to the optimal management. The antenatal spectrum of CTM includes congenital cystic adenomatoid malformation, sequestration, congenital lobar emphysema, enteric and bronchogenic cysts, and bronchial atresia. Most lesions require no antenatal intervention, and shrink substantially in the third trimester, but if fetal hydrops develops, then antenatal intervention is required, occasionally medical but more usually surgical, because mortality is high. If the baby is symptomatic in the newborn period, then some form of surgical intervention is clearly required. The asymptomatic baby presents a therapeutic dilemma. Advocates of early surgery point to the complications of CTM, which include infection, pneumothorax, bleeding and malignant transformation. Those who are proponents of conservative management retort that some CTM disappear postnatally, and that the complication rate is unknown; many children appear never to need surgery. Furthermore, there is clearcut evidence that excision of a CTM does not totally eliminate the risk of a subsequent malignancy. It is clear that, both antenatally and postnatally, counselling of the family on a case by case basis is needed. The limitations of present evidence should be stressed. Different families will make different decisions about postnatal surgery in an asymptomatic baby. If surgery is performed, morbidity is low, particularly with a video-assisted thoracoscopic (VATS) procedure.

  18. Duodenal Atresia Associated with Apple Peel Atresia and Situs Inversus Abdominus: A Case Report

    PubMed Central

    Ben Hamida, H.; Hadj Salem, R.; Ben Ameur, K.; Rassas, A.; Chioukh, FZ.; Sakka, R.; Kechiche, N.; Bizid, M.; Sahnoun, L.; Monastiri, K.

    2016-01-01

    Duodenal atresia is rarely associated with situs inversus abdominus. We report a case of duodenal atresia associated with small bowel atresia of apple peel type and situs inversus abdominus. PMID:27896168

  19. Biliary atresia in lampreys.

    PubMed

    Youson, J H

    1993-01-01

    The preceding pages have described an organism that is far removed from mammals on the taxonomic scale of vertebrates but one that has proven to have a unique and most useful system for studies of liver function and, in particular, bile product transport and excretion. It is also an organism in which iron loading can be studied in the liver and other organs and tissues. Many of the events that occur in this animal during its life cycle with regard to bile pigment metabolism as normal programmed phenomena are unparalleled among the vertebrates. In the larval (ammocoete) period of lampreys, there is an intrahepatic gallbladder and a biliary tree that is well equipped for the storage, transport, and elimination of bile products into the intestine for ultimate excretion with the feces. The importance of the patency of these bile ducts to bile excretion is illustrated in one species of lampreys in which the bile ducts of young ammocoetes become infested with larval nematodes to a degree that bile pigment regurgitation into the blood results in a green serum that is identified as biliverdin. Despite having serum levels of biliverdin that would be toxic to humans, these individuals live a complete larval life. The larvae of all lamprey species undergo a phase of metamorphosis in which they transform into adults. During this phase the larval gallbladder, the bile canaliculi of the hepatocytes, and all the intrahepatic bile ducts completely regress in a developmental process called lamprey biliary atresia. The epithelium of the extrahepatic common bile duct transforms and expands into a caudal portion of the endocrine pancreas of the adult. Many of the events of lamprey biliary atresia resemble events occurring during experimental and pathological conditions of mammalian cholestasis, including disruption to the bile-blood barrier (intercellular junctions), accumulation of bile components in the cytoplasmic inclusions, and alteration of the distribution of membrane enzymes

  20. Bronchial thermoplasty.

    PubMed

    Cox, Gerard

    2010-03-01

    Asthma, by definition is a variable disease. When there is more than normal natural variation in airflow, asthma can be provoked by a wide range of stimuli that include infectious, allergic, and environmental agents. Bronchoconstriction determines much of the short-term variability in airflow that characterizes asthma. Current treatments do not redress the excess smooth muscle mass that is present in the remodeled airway in chronic asthma. Thus, it is intriguing to consider the potential contribution of bronchial thermoplasty (a procedure that involves controlled heat treatment to reduce the mass of the airway smooth muscle) as an effective therapy for poorly controlled asthma.

  1. 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

  2. Contemporary Hearing Rehabilitation Options in Patients with Aural Atresia

    PubMed Central

    Lo, Jacky F. W.; Tsang, Willis S. S.; Yu, Joannie Y. K.; Ho, Osan Y. M.; Ku, Peter K. M.; Tong, Michael C. F.

    2014-01-01

    Congenital aural atresia is the failure of development of the external auditory canal. It usually occurs in conjunction with microtia, which is the malformation of the auricle due to a failure of development of the external ear. Aural atresia, with or without microtia, may significantly affect the hearing and social life of the patients. It is important for every medical practitioner to be aware of the possible treatment options for hearing rehabilitation in this group of patients. In the era of modern technology, new choices, including Bone-Anchored Hearing Aid (BAHA) (Cochlear Ltd. and Oticon Medical), Vibrant Soundbridge (VSB) (MED-EL, Innsbruck, Austria), and Bonebridge system (BB) (MED-EL, Innsbruck, Austria), provide high-end alternatives to traditional Bone Conduction Hearing Aid and Auditory Canal Reconstruction. All these options have advantages and disadvantages, and they are appropriate for different patients and/or at different ages. This paper aims to provide an overview of the management of hearing rehabilitation in congenital aural atresia patients and a discussion of each treatment option. PMID:24883324

  3. Newborn Screening for Biliary Atresia.

    PubMed

    Wang, Kasper S

    2015-12-01

    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.

  4. Bronchial hygiene therapy.

    PubMed

    Peruzzi, W T; Smith, B

    1995-01-01

    Bronchial hygiene therapy is useful and effective in the presence of careful patient evaluation, clear definition of therapeutic goals, and application of appropriate modalities. This article defines the variable bronchial hygiene modalities and discusses their indications, contraindications, and applications. Prophylactic and therapeutic bronchial hygiene modalities, diagnostic methods associated with bronchial hygiene therapy, inhaled antibiotic therapy, and therapist driven protocols are also addressed.

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

    PubMed Central

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

    2016-01-01

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

  6. 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

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

    PubMed

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

    2013-05-01

    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.

  8. A newborn with duodenal atresia and a gastric perforation.

    PubMed

    Akcora, Bulent; Eris, Ozge

    2010-01-01

    Congenital duodenal atresia complicated by gastric perforation (GP) is a very rare and a very mortal condition. Only three newborns could be cured in the reported 13 cases. We report a successfully treated newborn with this complicated disease. A 2-day-old male was hospitalized with prediagnosis of duodenal obstruction. Twelve hours later, significant abdominal distention occurred promptly. At laparotomy, GP and preampullary duodenal atresia were detected. Gastrorrhaphy and duodenoduodenostomy were performed in the same operation. The patient was discharged on the 15th postoperative day. This complicated disease can be treated by early diagnosis and surgical intervention. We choose one-stage operation because of the clean peritoneal cavity. However, generalized peritonitis may require two-stage operation in delayed cases.

  9. Pulmonary atresia and ventricular septal defect with aortopulmonary collaterals in an adult dog.

    PubMed

    Tou, Sandra P; Keene, Bruce W; Barker, Piers C A

    2011-12-01

    Pulmonary atresia and ventricular septal defect (PA-VSD) was diagnosed in a 2-year-old castrated male Terrier mix. Transthoracic echocardiography identified a large ventricular septal defect, overriding aorta and severe right ventricular hypertrophy. A main pulmonary artery could not be identified, consistent with pulmonary atresia or persistent truncus arteriosus. Transesophageal echocardiography and angiography confirmed PA-VSD with aortopulmonary collateral circulation arising from the descending thoracic aorta. This case report describes the antemortem diagnosis of the rare congenital defect PA-VSD in an adult dog.

  10. Partial Cervical Agenesis and Complete Vaginal Atresia.

    PubMed

    Kimble, Rebecca; Molloy, Genevieve; Sutton, Bridget

    2016-06-01

    The objective of this study was to report 2 cases of the combined congenital anomalies of complete vaginal atresia and partial cervical agenesis, and highlight the limitations of magnetic resonance imaging for definitive initial diagnosis, and consequently the importance of early definitive management, to avoid life-threatening sepsis. Herein we provide a retrospective case audit of two patients with congenital abnormalities between 2005 and 2013 who were treated in a quaternary statewide pediatric and adolescent gynecology center. Two patients with the combined congenital anomalies of complete vaginal agenesis and partial cervical agenesis highlight the difficulties encountered with the limitations of magnetic resonance imaging in accuracy of diagnosis, as well as development of life-threatening sepsis that requires hysterectomy. Both patients were initially imaged as having distended endometrial cavities and cervical canals with what was thought to be an obstructive upper vaginal septum and absent lower vagina. Both required initial neovagina creation, however the cervices were never clinically or surgically visualized. Partial cervical agenesis is a relatively rare form of Müllerian abnormality which, if not diagnosed and definitively treated early, can have significant morbidity and mortality. Although magnetic resonance imaging is the diagnostic imaging gold standard for Müllerian abnormalities, it is important to recognize the limitations of this modality, the potential sequelae of these limitations, and to appreciate the importance of early accurate diagnosis and treatment of this condition. Importantly, if the imaging diagnosis does not completely correlate with the clinical and surgical findings, then a high suspicion of complete or partial cervical agenesis is prudent, because the consequences of nondefinitive early treatment can be life-threatening and potentially fatal. Crown Copyright © 2016. Published by Elsevier Inc. All rights reserved.

  11. Epidemiology of Biliary Atresia in Korea

    PubMed Central

    2017-01-01

    Biliary atresia (BA) is the major cause of cholestasis and the leading indication for liver transplantation (LT). However, the incidence of BA in Korea has not been reported. The aim of this study was to investigate the incidence and clinical outcomes of BA in Korea. We used the Korean universal health insurance database and extracted data regarding BA patients younger than 18 years of age admitted between 2011 and 2015. The incidence of BA was calculated by dividing the number of BA patients by the number of live births. Two hundred forty infants were newly diagnosed with BA. A total of 963 BA patients younger than 18 years of age were followed up for 5 years. The overall incidence of BA was 1.06 cases per 10,000 live births. The incidence of BA was 1.4 times higher for female patients than for male patients. Additionally, significant seasonal variation was observed; in particular, the incidence of BA was 2 times higher from June through August than from December through February. Congenital anomalies were found in 38 of 240 patients (15.8%). Congenital heart diseases were major associated congenital anomalies (6.3%). Several complications developed during the study period, including cholangitis (24.0%), varix (6.2%), and gastrointestinal bleeding (4.4%). Three hundred and one of the 963 BA patients under 18 years of age (31.3%) received LT for BA. The incidence of BA is higher in Korea than that in Western countries. We also report significant gender-associated differences and seasonal variation with respect to the incidence of BA. PMID:28244293

  12. [Amniotic band sequence and bilateral choanal atresia: a case report].

    PubMed

    Del Toro-Valero, Azucena; Estrada-De la Fuente, Alejandro; Velázquez Santana, Héctor; Glicerio González, Jorge; Navarro Meza, María Cristina; Ortega-Hinojosa, Lilia; López-Cardona, María Guadalupe

    2011-08-01

    Amniotic band sequence (ABS) is a group malformation that mainly affects limbs; clinically, constriction rings and lymphedema of the fingers, arms and legs, acrosyndactyly and pseudosyndactyly are observed; also there is congenital amputation of limbs due to distal swelling. Less frequently, craniofacial and trunk involvement are reported in some patients. Etiology is still unknown and most cases are isolated. In this report we present the case of a 45-day-old male with diagnosis of SBA and bilateral choanal atresia as attached finding, and review possible causes of SBA and associated alterations.

  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.

  14. Aortic atresia and tricuspid atresia occurring in complete transposition of the great vessels.

    PubMed

    Butto, F; Margraf, L; Smith, G; Najmabadi, H

    1993-03-01

    A unique case of aortic atresia and tricuspid atresia associated with transposition of the great vessels is described in a newborn infant. The clinical, echocardiographic, and heart catheterization data are presented. The embryological and surgical implications are discussed.

  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. Genetics Home Reference: epidermolysis bullosa with pyloric atresia

    MedlinePlus

    ... Home Health Conditions epidermolysis bullosa with pyloric atresia epidermolysis bullosa with pyloric atresia Printable PDF Open All Close ... Javascript to view the expand/collapse boxes. Description Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition ...

  17. Effect of Amplification on Speech and Language in Children With Aural Atresia.

    PubMed

    Attaway, Judy; Stone, Christopher L; Sendor, Cindy; Rosario, Emily R

    2015-09-01

    There currently is no guideline regarding amplification or verification for children with aural atresia. This population, with the absence of the ear canal, has obvious congenital hearing loss. Research suggests that delayed treatment for hearing loss can result in speech and language impairments, including poor performance in school. In this study we examined the relationship between amplification and emerging speech and language development in children with aural atresia. Subjects included children, 3 to 6 years of age, with conductive hearing loss due to atresia. Clinical evaluations were used to determine relationships between amplification and speech and language development. Subjects underwent an audiology exam, including pure-tone or warble-tone air and bone conduction using play audiometry techniques, and a speech and language evaluation assessing language and vocabulary skills. Subjects who were fitted before 1 year of age showed better compliance with aid use and exhibited fewer delays in speech and language development. Children with right-sided atresia had significantly greater speech and language delays when compared with age norms from standardized tests. Our findings highlight a relationship between side of atresia, time of first amplification, compliance in aid use, and speech and language abilities.

  18. A unique case of segmental vasal atresia

    PubMed Central

    Alalayet, Yasen Fayez; Alkasim, F; Shiba, N; Aldhuayan, I; Alhamaidi, S; Alghamdi, G; Aljobair, F; Shoura, J; Alkhlaif, R

    2014-01-01

    We report a case of a 2-year-old boy who presented with an empty left scrotum. Clinical examination revealed a left palpable undescended testis. During orchidopexy, segmental atresia of the vas deferens was found, and microsurgical repair was carried out. Segmental vasal atresia is an extremely rare condition and is infrequently diagnosed, especially in the pediatric age group. This is the first reported case of segmental vasal atresia without an association with cystic fibrosis. PMID:25419520

  19. Esophageal atresia and tracheo-esophageal fistula.

    PubMed

    van der Zee, David C; Tytgat, Stefaan H A; van Herwaarden, Maud Y A

    2017-04-01

    Management of esophageal atresia has merged from correction of the anomaly to the complete spectrum of management of esophageal atresia and all its sequelae. It is the purpose of this article to give an overview of all aspects involved in taking care of patients with esophageal atresia between January 2011 and June 2016, as well as the patients who were referred from other centers. Esophageal atresia is a complex anomaly that has many aspects that have to be dealt with and complications to be solved. By centralizing these patients in centers of expertise it is believed that the best care can be given. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Sox17 haploinsufficiency results in perinatal biliary atresia and hepatitis in C57BL/6 background mice

    PubMed Central

    Uemura, Mami; Ozawa, Aisa; Nagata, Takumi; Kurasawa, Kaoruko; Tsunekawa, Naoki; Nobuhisa, Ikuo; Taga, Tetsuya; Hara, Kenshiro; Kudo, Akihiko; Kawakami, Hayato; Saijoh, Yukio; Kurohmaru, Masamichi; Kanai-Azuma, Masami; Kanai, Yoshiakira

    2013-01-01

    Congenital biliary atresia is an incurable disease of newborn infants, of unknown genetic causes, that results in congenital deformation of the gallbladder and biliary duct system. Here, we show that during mouse organogenesis, insufficient SOX17 expression in the gallbladder and bile duct epithelia results in congenital biliary atresia and subsequent acute ‘embryonic hepatitis’, leading to perinatal death in ~95% of the Sox17 heterozygote neonates in C57BL/6 (B6) background mice. During gallbladder and bile duct development, Sox17 was expressed at the distal edge of the gallbladder primordium. In the Sox17+/− B6 embryos, gallbladder epithelia were hypoplastic, and some were detached from the luminal wall, leading to bile duct stenosis or atresia. The shredding of the gallbladder epithelia is probably caused by cell-autonomous defects in proliferation and maintenance of the Sox17+/− gallbladder/bile duct epithelia. Our results suggest that Sox17 plays a dosage-dependent function in the morphogenesis and maturation of gallbladder and bile duct epithelia during the late-organogenic stages, highlighting a novel entry point to the understanding of the etiology and pathogenesis of human congenital biliary atresia. PMID:23293295

  1. Tracheal and bronchial stenoses and other obstructive conditions

    PubMed Central

    Schweiger, Claudia; Cohen, Aliza P.

    2016-01-01

    Although tracheal stenosis and bronchial stenosis are relatively rare in the pediatric population, they are both associated with significant morbidity and mortality. While most cases of congenital tracheal stenosis in children present as complete tracheal rings (CTRs), other congenital tracheal obstructions are also encountered in clinical practice. In addition, acquired obstructive tracheal conditions stemming from endotracheal trauma or previous surgical interventions may occur. Many affected children also have associated cardiovascular malformations, further complicating their management. Optimal management of children with tracheal or bronchial stenoses requires comprehensive diagnostic evaluation and optimization prior to surgery. Slide tracheoplasty has been the operative intervention of choice in the treatment of the majority of these children. PMID:28066618

  2. Perioperative anesthetic management of a patient with biliary atresia, situs inversus totalis, and kartegener syndrome for hepatobiliary surgery

    PubMed Central

    Garg, Rakesh; Goila, Ajay; Sood, Rajesh; Pawar, Mridula; Borthakur, Biplob

    2011-01-01

    Patients with genetic disorders associated with multiple congenital anomalies present unique challenges to the anesthesiologist. We report the successful perioperative management of a child with biliary atresia, situs inversus totalis, and Kartegener syndrome scheduled for corrective biliary surgery. We recommend that patients with multiple congenital anomalies need to be thoroughly and cautiously evaluated. The perioperative management should be individualized based on associated anomalies along with appropriate monitoring. PMID:21772694

  3. Congenital Cystic Lung Lesions: Evolution From In-utero Detection to Pathology Diagnosis-A Multidisciplinary Approach.

    PubMed

    Hardee, Steven; Tuzovic, Lea; Silva, Cicero T; Cowles, Robert A; Copel, Joshua; Morotti, Raffaella A

    2017-01-01

    Congenital cystic lung lesions are a group of rare pathologies that are usually diagnosed in the prenatal period. The majority of these lesions are diagnosed at pathology examination as congenital pulmonary airway malformations (CPAM) and bronchopulmonary sequestration (BPS). These lesions are typically managed by surgical intervention within the first year of life and have an excellent prognosis. We examined the evolution of imaging appearances from prenatal diagnosis to postnatal work-up of these lesions and correlate imaging and pathological findings. An 8-year retrospective review of the perinatal and pathology database of a single tertiary care center identified 42 cases of congenital cystic lung lesions of which 36 had known prenatal ultrasound and prenatal course available. Final pathologic diagnoses were 15 CPAM (41%), 7 BPS (19%), and 9 hybrid BPS and CPAM lesions (25%). Five cases with bronchial atresia were also identified (either in isolation or associated with CPAM or BPS). The overall characteristics of these lesions by prenatal ultrasound, postnatal imaging, and ultimate histopathologic diagnosis are described.

  4. Diagnosis and treatment of jejunoileal atresia.

    PubMed

    Touloukian, R J

    1993-01-01

    A total of 116 cases of intestinal atresia or stenosis were encountered at the Yale-New Haven Hospital between 1970 and 1990. Sites involved were the duodenum (n = 61; 53%), jejunum or ileum (n = 47; 46%), and colon (n = 8; 7%). All but two patients underwent operative correction, for an overall survival rate of 92%. Challenging problems were the management of apple-peel atresia (five patients), multiple intestinal atresia with short-gut syndrome (eight patients), and proximal jejunal atresia with megaduodenum requiring imbrication duodenoplasty (four patients). Major assets in the improved outlook for intestinal atresia are prenatal diagnosis, regionalization of neonatal care, improved recognition of associated conditions, innovative surgical methods, and uncomplicated long-term total parenteral nutrition.

  5. Complete occipitalization of the atlas with bilateral external auditory canal atresia.

    PubMed

    Dolenšek, Janez; Cvetko, Erika; Snoj, Žiga; Meznaric, Marija

    2017-02-18

    Fusion of the atlas with the occipital bone is a rare congenital dysplasia known as occipitalization of the atlas, occipitocervical synostosis, assimilation of the atlas, or atlanto-occipital fusion. It is a component of the paraxial mesodermal maldevelopment and commonly associated with other dysplasias of the craniovertebral junction. External auditory canal atresia or external aural atresia is a rare congenital absence of the external auditory canal. It occurs as the consequence of the maldevelopment of the first pharyngeal cleft due to defects of cranial neural crest cells migration and/or differentiation. It is commonly associated with the dysplasias of the structures derived from the first and second pharyngeal arches including microtia. We present the coexistence of the occipitalization of the atlas and congenital aural atresia, an uncommon combination of the paraxial mesodermal maldevelopment, and defects of cranial neural crest cells. The association is most probably syndromic as minimal diagnostic criteria for the oculoariculovertebral spectrum are fulfilled. From the clinical point of view, it is important to be aware that patients with microtia must obtain also appropriate diagnostic imaging studies of the craniovetebral junction due to eventual concomitant occipitalization of the atlas and frequently associated C1-C2 instability.

  6. 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

  7. Long-gap esophageal atresia.

    PubMed

    Shieh, Hester F; Jennings, Russell W

    2017-04-01

    The management of long-gap esophageal atresia remains challenging with limited consensus on the definition, evaluation, and surgical approach to treatment. Efforts to preserve the native esophagus have been successful with delayed primary anastomosis and tension-based esophageal growth induction processes. Esophageal replacement is necessary in a minority of cases, with the conduit of choice and patient outcomes largely dependent on institutional expertise. Given the complexity of this patient population with significant morbidity, treatment and long-term follow-up are best done in multidisciplinary esophageal and airway treatment centers. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. [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.

  9. Intestinal Atresia: Experience at a Busy Center of North-West India

    PubMed Central

    Gupta, Shilpi; Gupta, Rahul; Ghosh, Soumyodhriti; Gupta, Arun Kumar; Shukla, Arvind; Chaturvedi, Vinita; Mathur, Praveen

    2016-01-01

    Objective: To evaluate the presentation, management, complications and outcome of intestinal atresia (IA) managed at our center over a period of 1 year. Materials and methods: Records of patients of IA admitted in our center from January 2015 to December 2015 were retrospectively analyzed. Demographic data, antenatal history, presenting complaints, location (duodenal, jejunoileal, colonic) of atresia, surgery performed and peri-operative complications were noted. Results: Total 78 cases of IA were included in the analyses. Mean age and weight at the time of presentation was 5.8 days (range 0-50), and 1.9 kg (range 1.1-3.2), respectively. IA included duodenal atresia [DA (32)], jejuno-ileal atresia [JIA (40)], colonic atresia [CA (3)] and atresia at multiple-location (sites) in 3 cases. Ninety percent of patients underwent surgery within 5 to 20 hours of admission. All cases of DA except one underwent Kimura's diamond shaped duodeno-duodenostomy. One case with perforated duodenal web underwent duodenotomy with excision of web. Seven patients with JIA and CA required primary stoma, while rest were managed by excision of dilated proximal segment and primary anastomosis. Complications included anastomotic leak in 5, proximal perforation in 2, functional obstruction in 7, aspiration pneumonitis in 3, and wound infection in 6 patients. Mean hospital stay for survivors was 11 days. Overall survival was 63%. Conclusion: Late presentation, overcrowding in intensive care unit, septicemia, functional obstruction and anastomotic leak are the causes of poor outcome in our series. Early diagnosis, some modification in surgical technique, use of total parenteral nutrition and adequate investigations for other congenital anomalies may improve the outcome. PMID:27896159

  10. [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.

  11. 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.

  12. Intestinal obstruction due to dual gastrointestinal atresia in infants: diagnosis and management of 3 cases

    PubMed Central

    2014-01-01

    Background Several types of congenital lesions can cause complete or incomplete obstruction of the intestine. Our purpose is to present 3 neonates with dual intestinal type I atresia, i.e., simultaneous obstructive lesions at 2 locations in which the atresia manifested as diaphragm-like tissue. Case presentation All 3 cases were female infants ranging in age from 2 to 14 months. The common symptom in all cases was intermittent persistent vomiting. In some cases the vomitus was bilious, and other symptoms included abdominal distention and delayed meconium passage. Prior surgeries at another hospital were unsuccessful at relieving the symptoms in one case. One case had dual lesions in the colon, one dual lesions in the duodenum, and one atresia at both the distal portion of the ileum and the descending colon. Surgical exploration and removal of the lesions at our hospital was successful in all cases, and the infants were discharged in good condition. Conclusions Type I atresia can manifest as a diaphragm-like tissue obstructing the continuity of gastrointestinal tract, and in rare cases multiple areas may be present. Base on the intermittent nature of the associated symptoms, diagnosis can be difficult and is often delayed. Physicians should be aware of this condition during the work-up of an infant with persistent intermittent vomiting. PMID:24928109

  13. [Bidirectional cavopulmonary diversion for tricuspid atresia. Experience in the National Institute of Cardiology].

    PubMed

    Ramírez Marroquín, E S; Santibáñez Salgado, J A; Calderón Colmenero, J; Molina Méndez, J; Herrera Alarcón, V; Santibáñez Escobar, F; Barragán García, R

    1996-01-01

    Bidirectional cavopulmonary shunt is an alternative palliative procedure for patients with congenital cyanotic heart disease, specially those patients less than "ideal" candidates for a Fontan's procedure. We present our results with this shunt in patients with tricuspid atresia. Twenty patients with tricuspid atresia were operated on with this shunt, with these associated defects: 20 atrial septal defect, 17 ventricular septal defect, 10 pulmonary stenosis, 1 pulmonary atresia and 1 transposition of the great arteries. Sex: 10 males and 10 females; the age was 27 days to 6 years (mean 1.8 years), the weight was 3.2 kg to 24 kg (mean 10.7 kg), the mean pulmonary artery pressure was 11 to 24 mmHg (mean 17 mmHg), pulmonary vascular resistance was 1.5 to 5 UW (mean 3.1 UW). Postoperative oxygen saturation improved 15 to 120%. All patients survived the surgical procedure. Three patients died in the immediate postoperative period, 2 due to a complications in the postoperative period and 1 due to sepsis. There were two late deaths, 1 sudden death after 6 months of the shunt, and 1 due to sepsis after a Fontan's procedure. Four patients presented pleural effusion and 2 pericardial effusion, they resolved well. We have 15 patients alive and well, in functional class I, and minimal cyanosis. We can conclude that this surgical procedure is useful in the management of patients with tricuspid atresia.

  14. Fraser-cryptophthalmos syndrome with colonic atresia.

    PubMed

    Narang, Manish; Kumar, Manish; Shah, Dheeraj

    2008-02-01

    Fraser cryptophthalmos syndrome is a severe genetic disorder comprising of cryptophthalmos, syndactyly and genitourinary abnormalities. Gastrointestinal malformations are also increasingly being described. We describe a neonate with this syndrome having colonic atresia leading to cecal rupture and pneumoperitoneum.

  15. [Metastatic bronchial carcinoid tumors].

    PubMed

    Bouledrak, K; Walter, T; Souquet, P J; Lombard-Bohas, C

    2016-02-01

    Bronchial carcinoids are uncommon pulmonary neoplasms and represent 1 to 2 % of all lung tumors. In early stage of disease, the mainstay and only curative treatment is surgery. Bronchial carcinoids are generally regarded as low-grade carcinomas and metastatic dissemination is unusual. The management of the metastatic stage is not currently standardized due to a lack of relevant studies. As bronchial carcinoids and in particular their metastatic forms are rare, we apply treatment strategies that have been evaluated in gastrointestinal and pancreatic neuroendocrine tumors. However, bronchial carcinoids have their own characteristic. A specific therapeutic feature of these metastatic tumors is that they require a dual approach: both anti-secretory for the carcinoid syndrome, and anti-tumoral.

  16. 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.

  17. 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.

  18. Intrauterine intussusception: a rare cause of intestinal atresia.

    PubMed

    Pueyo, Carlos; Maldonado, Joaquín; Royo, Yolanda; Skrabski, Robert; Di Crosta, Ida; Raventós, Antoni

    2009-10-01

    Intrauterine intussusception is an uncommon cause of intestinal atresia. We report a case of ileal atresia owing to antenatal intussusception revealed as an intraluminal polypoid lesion after surgical intervention.

  19. 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

  20. 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.

  1. 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

  2. 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.

  3. Clinical manifestations of choanal atresia in infancy.

    PubMed

    Cozzi, F; Steiner, M; Rosati, D; Madonna, L; Colarossi, G

    1988-03-01

    The clinical features of 41 infants with various types of nasal obstruction were reviewed to study the correlation between the degree of nasal obstruction and clinical manifestations. Twenty-one subjects had bilateral choanal atresia/stenosis; 12 had unilateral choanal atresia/stenosis, and eight who were referred with suspected choanal atresia had a simple inflammatory nasal obstruction. Patients with bilateral choanal obstruction and patients with unilateral choanal obstruction or rhinitis showed no differences in clinical picture or in referral age. Many infants with either unilateral or bilateral choanal obstruction had one or more symptoms not fully relieved after surgical repair, although the choanae were widely patent. At long-term follow-up the surviving patients showed spontaneous recovery and good nasal respiration. Overall, five patients died. Since the common syndrome appeared to be related to a dysfunction of the autonomic nervous system, we conclude that any type of nasal obstruction may exacerbate or precipitate an underlying maturational autonomic disturbance.

  4. Biliary atresia: Where do we stand now?

    PubMed Central

    Govindarajan, Krishna Kumar

    2016-01-01

    The pathway from clinical suspicion to establishing the diagnosis of biliary atresia in a child with jaundice is a daunting task. However, investigations available help to point towards the correct diagnosis in reasonable time frame. Imaging by Sonography has identified several parameters which can be of utility in the diagnostic work up. Comparison of Sonography with imaging by Nuclear medicine can bring out the significant differences and also help in appropriate imaging. The battery of Biochemical tests, available currently, enable better understanding of the line-up of investigations in a given child with neonatal cholestasis. Management protocols enable standardized care with optimal outcome. The place of surgical management in biliary atresia is undisputed, although Kasai procedure and primary liver transplantation have been pitted against each other. This article functions as a platform to bring forth the various dimensions of biliary atresia. PMID:28083081

  5. Biliary atresia: Where do we stand now?

    PubMed

    Govindarajan, Krishna Kumar

    2016-12-28

    The pathway from clinical suspicion to establishing the diagnosis of biliary atresia in a child with jaundice is a daunting task. However, investigations available help to point towards the correct diagnosis in reasonable time frame. Imaging by Sonography has identified several parameters which can be of utility in the diagnostic work up. Comparison of Sonography with imaging by Nuclear medicine can bring out the significant differences and also help in appropriate imaging. The battery of Biochemical tests, available currently, enable better understanding of the line-up of investigations in a given child with neonatal cholestasis. Management protocols enable standardized care with optimal outcome. The place of surgical management in biliary atresia is undisputed, although Kasai procedure and primary liver transplantation have been pitted against each other. This article functions as a platform to bring forth the various dimensions of biliary atresia.

  6. New observations on the pathogenesis of multiple intestinal atresias.

    PubMed

    Puri, P; Fujimoto, T

    1988-03-01

    It has been suggested that multiple intestinal atresias result from multiple ischemic infarctions of the intestinal tract. We have studied surgical material from 59 neonates with intestinal atresias seen at our hospital between 1975 and 1986. Forty (68%) patients had single intestinal atresias and 19 (32%) had multiple atresias. There were seven cases of hereditary multiple atresias seen in three families and 12 cases of nonhereditary multiple atresias. All hereditary cases had numerous type I or type II gastrointestinal atresias but none had type IIIa atresia. Six of the seven hereditary cases had multiple atresias in the small as well as large bowel. The 12 patients with nonhereditary atresias had various types of atresias but mesenteric or intestinal interruption was observed in only two patients. All patients with hereditary multiple intestinal atresias showed identical microscopic appearances in the small and large intestine, consisting of sieve-like multiple lumina, each surrounded by its own mucosa and muscularis mucosae but sharing a common muscle coat. There was no evidence of lanugo, bile pigments, or squames within the lumen distal to atretic segments in any of these patients. Six nonhereditary cases who had multiple septal atresias affecting only the small bowel demonstrated essentially similar lesions on microscopic examination as seen in hereditary cases. There was no evidence of arterial occlusion in the mesentery and lanugo, bile pigments, and squames could not be found distally in the intestinal contents in any of these cases. These pathologic findings suggest that all cases of hereditary multiple intestinal atresias and some cases of nonhereditary multiple intestinal atresias are a consequence of a malformative process of the gastrointestinal tract rather than an ischemic process.

  7. [Esophageal atresia type I. Is impossible possible?].

    PubMed

    Ruiz de Temiño, M; Esteban, J A; Elías, J; González, N; Gracia, J; Romeo, M; Escartín, R; Burgués, P; Sainz, A; Pueyo, C

    2006-01-01

    Treatment of esophageal atresia with "long gap" remains difficult and controversial. According to the idea that esophageal anastomosis is imposible in most cases, several esophageal substitution methods have been proposed, as esophagocoloplasty, gastric transposition or reversed gastric tube. Nevertheless reconstruction of native esophagus is accepted as the best option if posible. "Long gap" definition is imprecise, expressed by variability in percent of these cases in total esophageal atresias reported in different series in literature. We report our experience in seven cases type I esophageal atresia with long gap and the different therapeutic options used, with attention to delayed or early esophageal anastomosis feasibility and outcome. We have treated 121 patients with esophageal atresia from whom we analized 7 cases with pure esophageal atresia with "long gap" (5.8%). Six patients underwent gastrostomy and two gastrostomy and esophagostomy. Five patient underwent primary repair with esophageal anastomosis, delayed between 14 days and 4 months in 4 cases. One patient underwent esophageal anastomosis in the first day without gastrostomy. Retroesternal esophagocoloplasty was performed in 2 patients about their first year of life. Esophagogram was done in first month after surgery and pH monitoring of gastroesophageal reflux. Follow-up ranged from 6 months to 28 years. Esophageal anastomosis was feasible in all 5 patients in whom it was tried. Stricture occurred in two patients, one patient underwent anastomotic resection and new esophageal anastomosis. Esophageal reflux was present in two patients, one of them required funduplication. One patient was dead by complications of cardiac malformation. Remaining patients have normal swallowing and are in normal growth curves. Patients with esophagocoloplasty had not relevant early or late complications. In most pure esophageal atresia, delayed or even early esophageal anastomosis is feasible, making use of surgical

  8. A large animal model of the fetal tracheal stenosis/atresia spectrum.

    PubMed

    Turner, Christopher G B; Klein, Justin D; Ahmed, Azra; Zurakowski, David; Fauza, Dario O

    2011-11-01

    Treatment of congenital tracheal stenosis/atresia remains essentially unresolved. Previous models of this disease entity have been restricted to rodents and the chick. We sought to establish the principles of a large, surgical animal model of this spectrum of fetal anomalies. Fetal lambs (n = 8) underwent open surgery at 90-112 days gestation. Their cervical tracheas were encircled by a biocompatible polytetrafluoroethylene wrap, so as to extrinsically restrict their external diameter by 25%. Survivors (n = 7) were killed at different time points post-operatively before term. The manipulated tracheal segments were compared with their respective proximal portions (controls). Analyses included morphometry, histology and quantitative extracellular matrix measurements. At necropsy, the typical gross appearance of tracheal stenosis/atresia was present in all manipulated tracheal segments. Histological findings included the virtual disappearance of the membranous portion of the trachea, along with infolding, fragmentation, and/or posterior fusion of cartilaginous rings, often with disappearance of the airway mucosa. There were significant decreases in diameter (P < 0.001) and total collagen levels (P = 0.005) on the manipulated trachea compared with the control portions. No significant differences were observed in overall elastin or glycosaminoglycan contents. A significant time-dependent increase in elastin was noted on the control, but not the experimental side. In a surgical ovine model, controlled extrinsic compression of the fetal trachea leads to morphological and biochemical findings compatible with the congenital tracheal stenosis/atresia spectrum. This simple and easily reproducible prenatal model can be instrumental in the development of emerging therapies for these congenital anomalies. Copyright © 2011 Elsevier Inc. All rights reserved.

  9. Gastro-bronchial fistula

    PubMed Central

    Missen, Anthony J. B.; Pemberton, James; Boon, Andrew

    1974-01-01

    1. Gastro-bronchial fistula is a rare condition occurring most commonly as a complication of a subphrenic abscess. 2. Other causes include trauma and necrosis within an infiltrating neoplasm. 3. The treatment of those fistulae which are secondary to a subphrenic abscess should be by drainage of the abscess, jejunal tube feeding and continuous gastric aspiration. ImagesFig. 1 PMID:4464513

  10. Bronchial malignant melanoma.

    PubMed

    Weshler, Z; Sulkes, A; Kopolovitch, J; Leviatan, A; Shifrin, E

    1980-01-01

    We describe a case of malignant melanoma presenting initially as an endobronchial lesion located in the left main bronchus causing total atelectasis. This resolved with radiation therapy. Widespread metastases developed shortly thereafter. The differential diagnosis of primary and metastatic bronchial malignant melanoma is discussed. Other isolated case reports are reviewed.

  11. Imperforate Anus with Jejunal Atresia Complicated by Intestinal Volvulus: A Case Report.

    PubMed

    Joung, Hae Soo; Guerrero, Alexandra Leon; Tomita, Sandra; Kuenzler, Keith A

    2016-01-01

    Anorectal malformations (ARMs) commonly co-occur with other congenital anomalies, particularly VACTERL (vertebral, anorectal, cardiac, tracheal, esophageal, renal, limb, and duodenal) associations. However, this collection of associations is not comprehensive, and other concurrent anomalies may exist that can be missed during the standard work-up of patients with ARMs. We present a rare case of a neonate with a low ARM with concurrent jejuno-ileal atresia that was diagnosed after the correction of the ARM when the patient developed segmental volvulus. This case illustrates the importance of having a high index of suspicion when deviation from a classic presentation occurs.

  12. Low birthweight babies with oesophageal atresia or tracheo-oesophageal fistula.

    PubMed Central

    Cozzi, F; Wilkinson, A W

    1975-01-01

    Of 142 patients of known gestation with oesophageal atresia or tracheo-oesophageal fistula, 21% were preterm with a mean weight of 2 kg, 19% were small-for-dates with a mean weight of 2.23 kg, and the remaining 60% were born at term and weighed more than 2.5 kg. There were almost five times as many preterm and almost eight times as many small-for-date infants as in a normal population. Respiratory distress syndrome and additional severe congenital anomalies were commoner in babies of short gestational age, and pneumonia was more common in small-for-dates babies. PMID:1236568

  13. Biliary Atresia Associated with Polysplenia Syndrome, Dextrocardia, Situs Inversus Totalis and Malrotation of Intestines

    PubMed Central

    Gupta, Rahul; Soni, Varsha; Ahmed, Reyaz; Goyal, Ram Babu

    2014-01-01

    Biliary atresia (BA) is a rare disease and the end result of a destructive, inflammatory cholangiopathy, leading to fibrosis and biliary cirrhosis. It is classified into syndromic variety with various congenital anomalies and non-syndromic (isolated anomaly). We present here a 1-month-old female child with the syndromic variety of BA associated with polysplenia syndrome, dextrocardia, situs inversus totalis and malrotation of intestines. She developed jaundice in the first week of life. Kasai operation was performed but she developed cholangitis and septicemia 2.5 months after surgery and succumbed later. PMID:26023480

  14. Imperforate Anus with Jejunal Atresia Complicated by Intestinal Volvulus: A Case Report

    PubMed Central

    Joung, Hae Soo; Guerrero, Alexandra Leon; Tomita, Sandra; Kuenzler, Keith A.

    2016-01-01

    Anorectal malformations (ARMs) commonly co-occur with other congenital anomalies, particularly VACTERL (vertebral, anorectal, cardiac, tracheal, esophageal, renal, limb, and duodenal) associations. However, this collection of associations is not comprehensive, and other concurrent anomalies may exist that can be missed during the standard work-up of patients with ARMs. We present a rare case of a neonate with a low ARM with concurrent jejuno-ileal atresia that was diagnosed after the correction of the ARM when the patient developed segmental volvulus. This case illustrates the importance of having a high index of suspicion when deviation from a classic presentation occurs. PMID:27896167

  15. Sharp recanalization of an esophageal occlusion after repair of esophageal atresia and tracheoesophageal stricture.

    PubMed

    Vo, Nghia-Jack; Racadio, John M; Inge, Thomas H

    2005-10-01

    Esophageal atresia with an associated tracheoesophageal fistula is a congenital anomaly requiring surgical correction. Recurrent stricture is the most common complication of surgical repair and is usually treated with mechanical dilation. Rarely, a recurrent completely obstructive stricture can cause obliteration of the anastomosis, preventing passage of a wire for dilation. This condition requires operative correction. In the case presented herein, the obliterated esophageal lumen from an obstructing stricture was operatively corrected with use of a novel transluminal technique. The obstruction was successfully crossed with a modified Chiba biopsy needle covered in a dilator through a gastrostomy. After subsequent balloon dilation, the lumen has remained patent for more than 3 years without significant complication.

  16. Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome?

    PubMed

    Ferrarini, Alessandra; Osterheld, Maria-Chiara; Vial, Yvan; de Viragh, Pierre A; Cotting, Jacques; Martinet, Danielle; Beckmann, Jacques S; Fellmann, Florence

    2009-12-01

    We report on two familial cases from a non-consanguineous marriage, presenting multiple intestinal and choanal atresia. Massive hydramnios and dilatation of the bowel were observed at 29 weeks of gestation during routine ultrasound scan of a healthy mother. The fetal karyotype was normal and cystic fibrosis screening was negative. Regular scans were performed throughout the pregnancy. The child was born at 34 weeks gestation. Choanal atresia was diagnosed at birth and abdominal investigations showed multiple atresia interesting both the small bowel and the colon. Further interventions were necessary because of recurrent obstructions. During the following pregnancy, a dilatation of the fetal intestinal tract was detected by ultrasonography at 27 weeks of gestation. Pregnancy was interrupted. Post-mortem examination of the fetus confirmed the stenosis of long segments of the small intestine associated with areas of colonic atresia. In both cases, histology and distribution were consistent with those reported in hereditary multiple intestinal atresia (HMIA). An association between multiple intestinal and choanal atresia has never been reported. We suggest it could correspond to a new autosomal recessive entity for which cytogenetic investigations and high-resolution array CGH revealed no visible anomalies.

  17. Screening and Outcomes in Biliary Atresia: Summary of a National Institutes of Health Workshop

    PubMed Central

    Sokol, Ronald J.; Shepherd, Ross W.; Superina, Riccardo; Bezerra, Jorge A.; Robuck, Patricia; Hoofnagle, Jay H.

    2013-01-01

    Biliary atresia is the most common cause of end-stage liver disease in the infant and is the leading pediatric indication for liver transplantation in the United States. Earlier diagnosis (<30-45 days of life) is associated with improved outcomes following the Kasai portoenterostomy and longer survival with the native liver. However, establishing this diagnosis is problematic because of its rarity, the much more common indirect hyperbilirubinemia that occurs in the newborn period, and the schedule for routine infant health care visits in the United States. The pathogenesis of biliary atresia appears to involve immune-mediated fibro-obliteration of the extrahepatic and intrahepatic biliary tree in most patients and defective morphogenesis of the biliary system in the remainder. The determinants of the outcome of portoenterostomy include the age at surgery, the center's experience, the presence of associated congenital anomalies, and the postoperative occurrence of cholangitis. A number of screening strategies in infants have been studied. The most promising are early measurements of serum conjugated bilirubin and a stool color card given to new parents that alerts them and their primary care provider to acholic stools. This report summarizes a National Institutes of Health workshop held on September 12 and 13, 2006, in Bethesda, MD, that addressed the issues of outcomes, screening, and pathogenesis of biliary atresia. PMID:17661405

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

    PubMed Central

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

    2015-01-01

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

  19. Genetic analysis of anal atresia in pigs: evidence for segregation at two main loci.

    PubMed

    Cassini, Pamela; Montironi, Alberto; Botti, Sara; Hori, Tetsuo; Okhawa, Haruo; Stella, Alessandra; Andersson, Leif; Giuffra, Elisabetta

    2005-03-01

    Anal atresia is a relatively common congenital malformation that occurs in about 1 out of 5000 infants, caused by abnormal hindgut development of the embryo, often associated with other developmental anomalies (e.g., Currarino, Townes-Brock, Pallister-Hall syndromes, and VATER association). Genetic analysis in human families is exceedingly difficult due to the multifactorial nature of the trait. In pigs, anal atresia occurs at a higher incidence (0.18%) than in humans. A complete genome scan (165 microsatellite markers) was performed using a backcross pedigree previously obtained by crossing affected animals from a partially inbred line, selected for a high incidence of anal atresia, with an unaffected male of a different breed (Meishan). The data set was analyzed with classical linkage (TWOPOINT) and nonparametric genetic methods (NPL, Non-Parametric Linkage, and TDT, Transmission Disequilibrium Test). Both methods support association of the trait with two loci on Chromosomes 9 and 15. GLI2 (GLI-Kruppel family member GLI2) was identified as a positional candidate gene based on comparative mapping; radiation hybrid mapping confirmed that this locus is located within the QTL region.

  20. Shock--manifestation of pulmonary atresia with aorto-pulmonary collaterals and single ventricle physiology in a 2-day neonate.

    PubMed

    Kovacikova, L; Skrak, P; Zahorec, M; Masura, J

    2008-01-01

    The combination of pulmonary valve atresia and ventricular septal defect accounts for about 2% of cases of congenital heart disease. Most of the cases have intracardiac anatomy of Tetralogy Fallot and present with cyanosis in neonatal age. To report a case of a newborn with rare combination of pulmonary atresia, ventricular septal defect and single ventricle physiology presenting with shock very early following birth. We describe a newborn infant who developed shock with severe metabolic acidosis and respiratory distress several hours following birth. Cardiac ultrasound showed pulmonary atresia and ventricular septal defect with single ventricle physiology. Cardiac cathetrisation revealed major aorto-pulmonary collaterals with an excessive pulmonary blood flow. Resuscitative measures resulted in hemodynamic stability. However, due to unfavorable prognosis, a decision not to undertake surgical palliation was made. Withdrawal of intensive care led to rapid demise of the patient. We report a case of a newborn with pulmonary atresia, ventricular septal defect and single ventricle physiology in whom an excessive flow through major aorto-pulmonary collaterals led to shock and death very early following birth (Fig. 1, Ref. 5). Full Text (Free, PDF) www.bmj.sk.

  1. Use of 3-D MRI to Diagnose Unilateral Cervical Atresia in Obstructive Hemivagina with Ipsilateral Renal Anomaly (OHVIRA): A Case Report and Review of the Literature.

    PubMed

    Tomlin, Kristl; Barnes, Craig; Van Leeuwen, Kathy; Williamson, Amy

    2017-07-28

    Congenital atresia of the cervix in the setting of an obstructed hemivagina with ipsilateral renal anomaly (OHVIRA) is an unusual occurrence which is frequently missed by preoperative imaging modalities. A 14 year-old adolescent female presented to a tertiary-care facility with abdominal pain associated with a mass. Initial imaging with ultrasound and MRI (magnetic resonance imaging) suggested OHVIRA but a 3-D MRI also correctly identified unilateral cervical atresia on the obstructed left side. 3-D MRI in the setting of OHVIRA was used successfully in this case to preoperatively identify cervical atresia and to guide preoperative surgical counseling and planning. The use of 3-D MRI for this purpose has never been described in the literature. Copyright © 2017. Published by Elsevier Inc.

  2. Isolated Left Subclavian Artery, Complete Atrioventricular Block, and Tricuspid Atresia in a Neonate

    PubMed Central

    Prasad, Deepa; Ashwath, Ravi; Strainic, James P.; Snyder, Christopher S.

    2016-01-01

    Isolated left subclavian artery is one of the rarer aortic arch anomalies. It has been associated with other congenital heart diseases, typically tetralogy of Fallot, double-outlet right ventricle, and atrial and ventricular septal defects. Its significant clinical implications include a left-to-right shunt from the vertebrobasilar system, which causes pulmonary overcirculation and subclavian steal. We present an unusual case of a premature infant who was diagnosed prenatally with congenital complete atrioventricular block and tricuspid atresia and was found to have an isolated left subclavian artery postnatally. The patient underwent implantation of a permanent single-chamber epicardial pacing system. To our knowledge, this combination of lesions has not been reported—and in our case, it influenced our surgical planning. PMID:28100981

  3. Vibrant Soundbridge(®) in preschool children with unilateral aural atresia: acceptance and benefit.

    PubMed

    Leinung, M; Zaretsky, E; Lange, B P; Hoffmann, V; Stöver, T; Hey, C

    2017-01-01

    The aim of this pilot study was to determine the acceptance and benefit from the middle ear implant system Vibrant Soundbridge(®) (VSB, MED-EL Corporation, Austria) by means of a questionnaire, compared to a previously used conventional bone conducting hearing device, in preschool children with unilateral congenital aural atresia. Prospective cohort study. All nine children with unilateral congenital aural atresia used the VSB and had previous experience with a bone conducting hearing device. The benefit from the VSB was evaluated by questionnaires concerning acceptance of hearing aids, handling, listening effort, behavior, quality of life, and the duration of daily use and compared to the experience with the bone conducting hearing device. In addition, to quantify the benefit from the VSB use, audiological assessment (pure-tone audiometry via free field testing, speech audiometry, and localization test) was performed with and without VSB. The questionnaires and audiological test results were compared pairwise. According to all questionnaire areas, children benefited significantly more from the VSB compared to bone conducting hearing device (ps <.05). The most important finding was a significant increase in daily use from 2 h for the bone conducting hearing device to 10 h for the VSB. Children performed significantly better with the VSB than without it in the audiological assessment. Children with unilateral aural atresia benefited significantly more from the VSB compared to a conventional bone conducting hearing device according to the parents' questionnaires and yielded better results in the audiometry and localization test with the VSB than without it.

  4. Non-classified type duodenal atresia: case report.

    PubMed

    Aydin, Emrah

    2015-01-01

    Our aim is to present a case with initial diagnosis of non-classified type duodenal atresia operated in our clinic. A patient with prenatally suspected to be duodenal atresia was explored. At laparotomy type 3 duodenal atresia was found between 2(nd) and 3(rd) parts of duodenum. In addition, a web was detected distal to the atresic part. Duodenoduodenostomy together with web excision was performed. He had not any additional pathology. Although duodenal atresia is a very well known pathology by pediatric surgeons, though rarely a non-classified type duodenal atresia can be encountered. Possible presence of a second atresia should be kept in mind, proximal and distal segments of the duodenum and intestinal passage must be explored carefully for the presence of second atresic segment before performing duodenoduodenostomy.

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

    PubMed

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

    2011-04-01

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

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

    PubMed

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

    2014-01-01

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

  7. Stentless endoscopic transnasal repair of bilateral choanal atresia starting with resection of vomer.

    PubMed

    El-Ahl, Magdy Abdalla Sayed; El-Anwar, Mohammad Waheed

    2012-07-01

    To assess the results of a transnasal endoscopic repair of congenital choanal atresia beginning by resection of the posterior portion of the vomer and ending by no stent. Seven patients with bilateral congenital choanal atresia aged ranging from 3 to 15 days were operated upon between June 2009 and September 2011. This transnasal endoscopic approach allowed resection of the posterior portion of the vomer first then the atretic plates and part of the medial pterygoid plate if needed leaving no stent. Postoperative control included office fiberoptic nasal endoscopy. Adequate functional nasal breathing was maintained in all patients during follow up of 11 to 23 months. Apart from one case that complicated by palatal defect, no any other complications were detected. The described technique was proved to be very effective, allowing fast recovery, and one step surgery with early discharge from hospital using neither stents nor nasal packing. Good patency with no reduction in functional quality was also observed. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  8. Postoperative Gastric Perforation in a Newborn with Duodenal Atresia

    PubMed Central

    Antabak, Anko; Bogović, Marko; Vuković, Jurica; Grizelj, Ruža; Babić, Vinka Barbarić; Papeš, Dino; Luetić, Tomislav

    2016-01-01

    Gastric perforation (GP) in neonates is a rare entity with high mortality. Although the etiology is not completely understood, it mostly occurs in premature neonates on assisted ventilation. Combination of duodenal atresia and gastric perforation is very rare. We present a case duodenal atresia who developed gastric perforation after operetion for duodenal atresia. Analysis of the patient medical record and histology report did not reveal the etiology of the perforation. PMID:27896170

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

    PubMed Central

    Kinhal, Vidyadhar; Desai, Mahesh; Tilak; Choudhari, Fazal UR Rehman

    2015-01-01

    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

  10. 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.

  11. [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.

  12. 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

  13. Congenital giant right atrium in an elderly woman.

    PubMed

    Santra, Gouranga; Paul, Rudrajit; Das, Shubhabrata; Datta, Arnab; Pradhan, Sourav; Sarkar, R N

    2014-07-01

    Enlargement of right atrium is usually secondary to pulmonary hypertension due to valvular heart diseases or obstructive pulmonary disorders, atrial septal defect, tricuspid atresia or stenosis, pulmonary stenosis, primary pulmonary hypertension, Ebstein's anomaly. Congenital enlargement of right atrium is rare and it commonly presents in children. Our patient presented with congenital giant right atrium at 65 years of age, other cardiac diseases being excluded. Patient developed tricuspid regurgitation, but pulmonary hypertension was absent till the date. Congenital giant right atrium has rarely been reported from India.

  14. [The history of bronchial asthma].

    PubMed

    Carlo-Stella, N

    1998-01-01

    The history of bronchial asthma from ancient times is traced. The first accounts of asthma in the ancient Greeks and Romans with clinical descriptions by Aretus of Cappadocia and Aulus Celsus Cornelius are recounted. These are followed by the medieval habits of the Middle East as described by Moises Maimonides. The Renaissance is witness to a new scientific fervor in postulating theories on the pathogenesis of bronchial asthma by van Helmont, Willis and Floyer. The seventeenth and eighteenth centuries will see the discovery of the anatomical foundation of bronchial asthma thanks largely to the technical advances in the diagnostic field by Auerbrugge and Laennec. The allergic nature of bronchial asthma is studied by Salter. S Meltzer's hypothesis of histamine release as the pathogenesis of bronchial asthma leads the way for the twentieth century's leading discoveries.

  15. Spatial distribution patterns of anorectal atresia/stenosis in China: Use of two-dimensional graph-theoretical clustering

    PubMed Central

    Yuan, Ping; Qiao, Liang; Dai, Li; Wang, Yan-Ping; Zhou, Guang-Xuan; Han, Ying; Liu, Xiao-Xia; Zhang, Xun; Cao, Yi; Liang, Juan; Zhu, Jun

    2009-01-01

    AIM: To investigate the spatial distribution patterns of anorectal atresia/stenosis in China. METHODS: Data were collected from the Chinese Birth Defects Monitoring Network (CBDMN), a hospital-based congenital malformations registry system. All fetuses more than 28 wk of gestation and neonates up to 7 d of age in hospitals within the monitoring sites of the CBDMN were monitored from 2001 to 2005. Two-dimensional graph-theoretical clustering was used to divide monitoring sites of the CBDMN into different clusters according to the average incidences of anorectal atresia/stenosis in the different monitoring sites. RESULTS: The overall average incidence of anorectal atresia/stenosis in China was 3.17 per 10 000 from 2001 to 2005. The areas with the highest average incidences of anorectal atresia/stenosis were almost always focused in Eastern China. The monitoring sites were grouped into 6 clusters of areas. Cluster 1 comprised the monitoring sites in Heilongjiang Province, Jilin Province, and Liaoning Province; Cluster 2 was composed of those in Fujian Province, Guangdong Province, Hainan Province, Guangxi Zhuang Autonomous Region, south Hunan Province, and south Jiangxi Province; Cluster 3 consisted of those in Beijing Municipal City, Tianjin Municipal City, Hebei Province, Shandong Province, north Jiangsu Province, and north Anhui Province; Cluster 4 was made up of those in Zhejiang Province, Shanghai Municipal City, south Anhui Province, south Jiangsu Province, north Hunan Province, north Jiangxi Province, Hubei Province, Henan Province, Shanxi Province and Inner Mongolia Autonomous Region; Cluster 5 consisted of those in Ningxia Hui Autonomous Region, Gansu Province and Qinghai Province; and Cluster 6 included those in Shaanxi Province, Sichuan Province, Chongqing Municipal City, Yunnan Province, Guizhou Province, Xinjiang Uygur Autonomous Province and Tibet Autonomous Region. CONCLUSION: The findings in this research allow the display of the spatial distribution

  16. Fetal interventions for congenital heart disease.

    PubMed

    Freud, Lindsay R; Tworetzky, Wayne

    2016-04-01

    This article discusses the rationale, patient selection, technical aspects, and outcomes of percutaneous, ultrasound-guided fetal cardiac intervention (FCI) for structural congenital heart disease. FCI is most commonly performed for three forms of congenital heart disease: severe aortic stenosis with evolving hypoplastic left heart syndrome (HLHS), pulmonary atresia with intact ventricular septum and evolving hypoplastic right heart syndrome, and HLHS with intact or highly restrictive atrial septum. For severe aortic stenosis and pulmonary atresia with intact ventricular septum, the goal of intervention is to alter the natural history such that a biventricular circulation may be achieved postnatally. A growing number of patients have achieved a biventricular circulation; however, patient selection and postnatal management strategy are essential for success. HLHS with intact or highly restrictive atrial septum is one of the most lethal forms of congenital heart disease, and the goal of FCI is to improve survival. Although the creation of an atrial communication in utero is technically feasible and may permit greater stability in the immediate postnatal period, significant improvements in survival have not yet been reported. FCI is an evolving form of treatment for congenital heart disease that holds promise for select patients. Critical evaluation of both short and long-term outcomes is warranted.

  17. Visualization of bronchial circulation at bronchial anastomotic site using bronchial fluorescein angiography technique.

    PubMed

    Iga, Norichika; Miyoshi, Kentaroh; Takata, Katsuyoshi; Hirano, Yutaka; Konishi, Yusuke; Otani, Shinji; Sugimoto, Seiichiro; Yamane, Masaomi; Miyoshi, Shinichiro; Oto, Takahiro

    2016-11-01

    Successful bronchial healing after a bronchoplastic procedure mainly depends on bronchial circulation at the anastomostic site. We developed a bronchial fluorescein angiography (B-FAG) technique for visualizing circulation on the bronchial surface. The technique was evaluated in animals. Fluorescein was used as a contrast agent and an autofluorescence imaging (AFI) bronchoscope as a detector. The left main pulmonary artery (PA) and main bronchus of 10 pigs were isolated. After transection of the left main bronchus and bronchial arteries and re-anastomosis of the bronchus, the pigs were randomly divided into two groups: the PA- group (n = 5), in which the pulmonary artery was transected; and the PA+ group (n = 5), in which the pulmonary artery was preserved. Following intravenous injection of fluorescein, the distal anastomotic site was observed for 30 min with autofluorescence imaging bronchoscopy. Bronchial specimens sampled 2 days after the surgical intervention were histologically evaluated. In the PA- group, there was no fluorescein enhancement in the distal bronchus throughout the observation time. However, enhancement, which turned the bronchial surface from magenta to bright green, was clearly observed in less than 207 ± 102.5 s in the PA+ group. The enhancement status detected by bronchial fluorescein angiography was related to the extent of tissue damage, as was proven histologically in the acute healing stage. Bronchial fluorescein angiography clearly visualized the circulatory status promptly after the anastomosis procedure at the central bronchus. This technique is a potentially practical approach to predict ischaemic airway complications following bronchial anastomosis. © The Author 2016. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  18. Endoscopic esophageal substitution for pure esophageal atresia and wide gap esophageal atresia: A report of five cases with minimum follow-up of twelve months.

    PubMed

    Chowdhary, Sujit K; Kandpal, Deepak K; Agarwal, Deepak; Balan, Saroja; Jerath, Nameet; Sibal, Anupam; Broor, Sohan L

    2016-03-01

    The aim of the study is to report feasibility and safety of endoscopic esophageal substitution in infants with pure esophageal atresia and wide gap tracheoesophageal fistula with a minimum one year follow-up. This prospective study was conducted from January 2012 for twenty four consecutive months at Apollo Hospital, New Delhi. All babies either followed up or referred for esophageal substitution without any history of mediastinitis or associated major congenital anomaly and weighing greater than 6kg were to be included in the study. The indication, intraoperative details, operative approach, conversion to open, esophageal substitute, postoperative ventilation, ICU and hospital stay, time to solid foods, morbidity and mortality were recorded. Informed consent was obtained from all the parents and ethical clearance was obtained for the study from the hospital ethical committee. Postoperatively babies were followed up monthly for first six months, 3 monthly for next six months and annually thereafter. Between January 2012 and December 2013, in the two year period six infants were admitted for laparoscopic gastric transposition. In five patients the procedure was completed by the laparoscopic approach and one required conversion to open surgery owing to dense adhesions. The age range at the time of surgery was from 8months to 12months with a mean age of 10months. Four patients had pure esophageal atresia (type A) and two had wide gap esophageal atresia with distal tracheoesophageal atresia (type C). Five had primary esophagostomy and gastrostomy as a newborn, the sixth had postoperative anastomotic leak and required subsequent diversion. The mean operating time was 194minutes (range 170-210minutes). The mean stay in ICU was 7days with a range of 4-12days. All patients were ventilated in the postoperative period for an average of 5days with a range of 4-7days. One patient had prolonged gastric ileus which delayed the oral feeds by 14days. The mean time to start the

  19. Pure esophageal atresia with normal outer appearance: case report.

    PubMed

    Sanal, Murat; Haeussler, Beatrice; Tabarelli, Walther; Maurer, Kathrin; Sergi, Consolato; Hager, Josef

    2007-08-01

    Isolated esophageal atresia is characterized by a long segment between the 2 esophageal pouches. This article presents a case of pure esophageal atresia with a 1-cm-long segment at the midportion without discontinuity that resembled the subtype II3 according to the Kluth atlas. Resection of the atretic segment and primary anastomosis were performed successfully.

  20. [Bronchial hyperreactivity in athletes].

    PubMed

    Carlsen, K H

    1994-01-01

    Elite athletics, particularly endurance sports, are characterised by a high prevalence of bronchial hyperresponsiveness (BHR) and exercise-induced asthma (EIA). Findings in several studies suggest short-term high intensity physical activity to cause a transient increase in BHR. Recent studies in Oslo have shown that regular physical endurance training over several years, particularly when combined with such climatic factors as low air temperatures, may result in an increased risk of BHR and EIA among elite athletes--e.g., cross-country skiers. Inhalation beta 2-agonists and steroids have been used by many athletes in endurance sports, particularly skiers. Athletes with symptoms of BHR or EIA should be examined with lung function tests and exercise testing, and the effect of antiasthmatic drugs should be ascertained. Inhaled beta 2-agonists have no beneficial effect upon physical performance in nonasthmatic athletes, and may have a slight limiting effect upon physical endurance.

  1. Obscure pulmonary masses: bronchial impaction revealed by CT

    SciTech Connect

    Pugatch, R.D.; Gale, M.E.

    1983-11-01

    Dilated bronchi impacted with mucus or tumor are recognized on standard chest radiographs because they are surrounded by aerated pulmonary parenchyma. When imaged in different projections, these lesions produce a variety of appearances that are generally familiar. This report characterizes less familiar computed tomographic (CT) findings in eight patients with pathologic bronchial distension of congenital, neoplastic, or infectious etiologies and correlates them with chest films. In seven patients, CT readily revealed dilated bronchi and/or regional lung hypodensity. In four of these cases, CT led to the initial suspicion of dilated bronchi. CT should be used early in the evaluation of atypical pulmonary mass lesions or to confirm suspected bronchial impaction because of the high probability it will reveal diagnostic features.

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

    PubMed Central

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

    1980-01-01

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

  3. 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.

  4. Current options for management of biliary atresia.

    PubMed

    Gallo, Amy; Esquivel, Carlos O

    2013-03-01

    It is encouraging that we are improving the technical aspects of treatment modalities for biliary atresia. However, it is clear that more needs to be done to best develop new treatment plans while applying the modalities we have (porto-enterostomy or liver transplantation or both) in a way that will afford the best survival and quality-of-life. This review article will discuss a number of points that are vital to improving care and illustrates the need to further scrutinize treatment decisions.

  5. Disseminated typical bronchial carcinoid tumor.

    PubMed

    Novković, Dobrivoje; Skuletić, Vesna; Vuković, Jelena; Cerović, Snezana; Tomić, Ilija; Karlicić, Vukojica; Stojisavljević, Marko

    2013-05-01

    Bronchial carcinoids belong to a rare type of lung tumors. If they do not expose outstanding neuroendocrine activity, they develop without clearly visible symptoms. They are often detected during a routine examination. According to their clinical pathological features, they are divided into typical and atypical tumors. Typical bronchial carcinoids metastasize to distant organs very rarely. Localized forms are effectively treated by surgery. The methods of conservative treatment should be applied in other cases. We presented a 65-year-old patient with carcinoid lung tumor detected by a routine examination. Additional analysis (chest X-ray, computed tomography of the chest, ultrasound of the abdomen, skeletal scintigraphy, bronhoscopy, histopathological analysis of the bioptate of bronchial tumor, as well as bronchial brushing cytology and immunohistochemical staining performed with markers specific for neuroendocrine tumor) proved a morphologically typical lung carcinoid with dissemination to the liver and skeletal system, which is very rarely found in typical carcinoids. The presented case with carcinoid used to be showed morphological and pathohistological characteristics of typical bronchial carcinoid. With its metastasis to the liver and skeletal system it demonstrated unusual clinical course that used to be considered as rare phenomenon. Due to its frequent asymptomatic course and varied manifestation, bronchial carcinoid could be considered as a diagnostic challenge requiring a multidisciplinary approach.

  6. Eosinophilic esophagitis in patients with esophageal atresia and chronic dysphagia

    PubMed Central

    Kassabian, Sirvart; Baez-Socorro, Virginia; Sferra, Thomas; Garcia, Reinaldo

    2014-01-01

    Esophageal atresia (EA) is defined as a discontinuity of the lumen of the esophagus repaired soon after birth. Dysphagia is a common symptom in these patients, usually related to stricture, dysmotility or peptic esophagitis. We present 4 cases of patients with EA who complained of dysphagia and the diagnosis of Eosinophilic esophagitis (EoE) was made, ages ranging from 9 to 16 years. Although our patients were on acid suppression years after their EA repair, they presented with acute worsening of dysphagia. Esophogastroduodenoscopy and/or barium swallow did not show stricture and biopsies revealed elevated eosinophil counts consistent with EoE. Two of 4 patients improved symptomatically with the topical steroids. It is important to note that all our patients have asthma and 3 out of 4 have tested positive for food allergies. One of our patients developed recurrent anastomotic strictures that improved with the treatment of the EoE. A previous case report linked the recurrence of esophageal strictures in patients with EA repair with EoE. Once the EoE was treated the strictures resolved. On the other hand, based on our observation, EoE could be present in patients without recurrent anastomotic strictures. There appears to be a spectrum in the disease process. We are suggesting that EoE is a frequent concomitant problem in patients with history of congenital esophageal deformities, and for this reason any of these patients with refractory reflux symptoms or dysphagia (with or without anastomotic stricture) may benefit from an endoscopic evaluation with biopsies to rule out EoE. PMID:25548504

  7. Eosinophilic esophagitis in patients with esophageal atresia and chronic dysphagia.

    PubMed

    Kassabian, Sirvart; Baez-Socorro, Virginia; Sferra, Thomas; Garcia, Reinaldo

    2014-12-21

    Esophageal atresia (EA) is defined as a discontinuity of the lumen of the esophagus repaired soon after birth. Dysphagia is a common symptom in these patients, usually related to stricture, dysmotility or peptic esophagitis. We present 4 cases of patients with EA who complained of dysphagia and the diagnosis of Eosinophilic esophagitis (EoE) was made, ages ranging from 9 to 16 years. Although our patients were on acid suppression years after their EA repair, they presented with acute worsening of dysphagia. Esophogastroduodenoscopy and/or barium swallow did not show stricture and biopsies revealed elevated eosinophil counts consistent with EoE. Two of 4 patients improved symptomatically with the topical steroids. It is important to note that all our patients have asthma and 3 out of 4 have tested positive for food allergies. One of our patients developed recurrent anastomotic strictures that improved with the treatment of the EoE. A previous case report linked the recurrence of esophageal strictures in patients with EA repair with EoE. Once the EoE was treated the strictures resolved. On the other hand, based on our observation, EoE could be present in patients without recurrent anastomotic strictures. There appears to be a spectrum in the disease process. We are suggesting that EoE is a frequent concomitant problem in patients with history of congenital esophageal deformities, and for this reason any of these patients with refractory reflux symptoms or dysphagia (with or without anastomotic stricture) may benefit from an endoscopic evaluation with biopsies to rule out EoE.

  8. Prenatal diagnosis of biliary atresia: A case series.

    PubMed

    Shen, O; Sela, H Y; Nagar, H; Rabinowitz, R; Jacobovich, E; Chen, D; Granot, E

    2017-08-01

    Biliary atresia is a progressive disease presenting with jaundice, and is the most common indication for liver transplantation in the pediatric population. Prenatal series have yielded conflicting results concerning a possible association between BA and prenatal nonvisualization of the gallbladder. This retrospective case series was performed to assess the association between biliary atresia, prenatal nonvisualization of the gallbladder and other sonographic signs. We identified biliary atresia patients who underwent a Kasai procedure by a single pediatric surgeon and/or follow up by a single pediatric gastroenterologist. Axial plane images and/or video recordings were scrutinized for sonographic signs of biliary atresia on the second trimester anomaly scan. Proportion of biliary atresia cases with prenatal sonographic signs. Twenty five charts of children with biliary and high quality prenatal images were retrieved. 6/25 (24%) of cases analyzed had prenatal nonvisualization of the gallbladder or a small gallbladder on the prenatal scan. Two cases had biliary atresia splenic malformation syndrome. None of the cases had additional sonographic markers of biliary atresia. Our study suggests that in addition to the well-established embryonic and cystic forms, an additional type can be suspected prenatally, which is characterized by prenatal nonvisualization of the gallbladder in the second trimester. This provides additional evidence that some cases of BA are of fetal rather than perinatal onset and may have important implications for prenatal diagnosis, for counseling and for research of the disease's etiology and pathophysiology. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. 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.

  10. [Biliary atresia - signs and symptoms, diagnosis, clinical management].

    PubMed

    Orłowska, Ewa; Czubkowski, Piotr; Socha, Piotr

    Biliary atresia is a chronic cholangiopathy leading to progressive fibrosis of both intra- and extrahepatic bile ducts. The cause of the condition is unknown. Fundamental management of biliary atresia is surgical intervention and the outcomes of the treatment depend on the child's age with best results when performed within the first 2 months of life. Thus, the main role of pediatric healthcare is an urgent differential diagnosis and prompt qualification for the surgery, optimal postoperative management and early qualification for the liver transplantation in patients with persistent cholestasis. The authors discuss the clinical presentation, diagnosis and management of biliary atresia.

  11. Dumping syndrome after esophageal atresia repair without antireflux surgery.

    PubMed

    Michaud, Laurent; Sfeir, Rony; Couttenier, Frédéric; Turck, Dominique; Gottrand, Frédéric

    2010-04-01

    In childhood, the surgical treatment of gastroesophageal reflux is the main cause of dumping syndrome. We report the cases of 2 children with esophageal atresia who presented with dumping syndrome without any precipitating known factors, such as gastroesophageal reflux surgery or associated microgastria. Our data suggest (1) that dumping syndrome can occur after primary anastomosis of esophageal atresia without antireflux surgery and (2) that dumping syndrome should be considered in every child treated surgically for esophageal atresia presenting with digestive symptoms, malaise, failure to thrive, or refusal to eat.

  12. [Rhino-bronchial syndrome].

    PubMed

    Gani, F; Vallese, G; Piglia, P; Senna, G; Mezzelani, P; Pozzi, E

    2000-12-01

    A close anatomical and functional relationship between superior and inferior airways is well documented. A typical example is offered by the close relationship between allergic rhinitis and asthma whose close connection is documented by epidemiological and pathological data. The mechanisms which can explain this phenomenon are not fully known but naso-bronchial reflexes, mouth-breathing due to nasal obstruction and aspiration of nasal secretions seem all to be important. Moreover it has been recently proved that the treatment of rhinitis can improve the concomitant asthma thus confirming their relationship. Another less frequent association is between sinusitis and asthma. Such a connection seems to be frequent in patients suffering of atopic rhinitis but also in patients presenting a nasal obstruction of different nature such as deviations of the nasal septum, adenoid hypertrophy etc. Also in this case a correct medical or surgical treatment of sinusitis can improve asthma symptomathology. Finally a classic example of involvement of superior and inferior airways is represented by the syndrome of ASA intolerance. These patients in fact initially complain of rhinitis which afterwards is complicated by the onset of nasal polyposis and asthma which can prove clinically very severe. Nowadays, anyway, there is no evidence that the treatment of rhinitis or polypectomy can improve the clinical course of asthma. In conclusion, diseases of superior and inferior airways must be considered in strict connection and need the same global treatment.

  13. Congenital Hypothyroidism

    MedlinePlus

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Pediatric Endocrine Society MedlinePlus (NIH) What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  14. Congenital Hypothyroidism

    MedlinePlus

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  15. Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

    PubMed Central

    2013-01-01

    Background VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies. Methods Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL anomalies (VACTERL-type) and non tipical VACTERL anomalies (non-VACTERL-type). The inclusion criterion was the presence of EA with or without TEF plus two or more of the following additional malformations: vertebral defects, anal atresia, cardiovascular defects, renal anomalies and lower limb deformities, like radial dysplasia. Results Among 52 patients with EA/TEF, 20 (38,4%) had isolated EA and 7 (21,8%) had a recognized etiology such a syndrome and therefore were excluded. Among 32 infants with EA and associated malformations, 15 (46,8%) had VACTERL association. The most common anomalies were congenital heart defects (73,3%), followed by vertebral anomalies (66,6%). Many patients also had additional non-VACTERL-type defects. Single umbilical artery was the most common one followed by nervous system abnormalities and anomalies of toes. Between the groups of infants with VACTERL type and non-VACTERL-type anomalies, there are several overlapping data regarding both the tipically described spectrum and the most frequently reported non-VACTERL-type malformations. Thus, it is possible to differentiate infants with a full phenotype (VACTERL full phenotype) and patients that do not meet all the criteria mentioned above, but with some homologies with the first group (VACTERL partial

  16. Dental management of pediatric patients affected by pulmonary atresia with ventricular septal defect: A scoping review

    PubMed Central

    Garrocho-Rangel, Arturo; Echavarría-García, Ana-Cristina; Rosales-Bérber, Miguel-Ángel; Flores-Velázquez, Joselín

    2017-01-01

    Background Congenital Heart Diseases (CHD) involves a wide range of pathological conditions, such as Pulmonary Atresia with Ventricle Septal Defect (PA/VSD). This disorder leads to the systemic circulation of oxygen-poor blood (cyanosis), with associated features and consequences in the oral cavity. Material and Methods Using scoping review methodology for screening and article selection, the primary objectives of this paper were as follows: first, to pose a research question; second, to identify relevant studies in order to answer the research question; third, to select and retrieve the studies; fourth, to chart the critical data, and finally, to collate, summarize, and report the results from the most important articles on the dental management of children affected with PA/VSD. Relevant articles (Randomized Controlled Trials [RCT], reviews, observational studies, and clinical case reports) published over a 10-year period were identified and retrieved from four Internet databases: PubMed; Embase/Ovid; Cochrane Library, and Google Scholar. Results By title and abstract screening and after removing duplicates, 24 articles were finally included in the present scoping review. According to the extracted data, the following are the most important clinical issues to be considered when treating children with PA/VSD in the dental setting: prevalence of dental caries; prevention of dental disease (oral hygiene and diet); bacteremia and infective endocarditis risk, and child behavior control and treatment under general anesthesia. Conclusions Pediatric Dentists should bear in mind that early diagnosis and treatment, together a long-term follow-up of children with PA/VSD, continue to be the best approaches for achieving enhanced patient psychological well-being and, in consequence, their good quality of life. Key words:Pulmonary atresia, congenital heart diseases, ventricle septal defect, scoping review, dental management. PMID:28624838

  17. Truncus arteriosus versus tetralogy of Fallot with pulmonary atresia.

    PubMed

    Greenhouse, David G; Breitbart, Roger E; Baird, Christopher W

    2016-11-10

    Truncus arteriosus and tetralogy of Fallot with pulmonary atresia may be difficult to differentiate prenatally. We present a case that, on newborn echocardiography, angiography, and intraoperative inspection, shared features of both diagnoses.

  18. Follicular atresia in the prepubertal spiny mouse (Acomys cahirinus) ovary.

    PubMed

    Hułas-Stasiak, Monika; Gawron, Antoni

    2011-10-01

    This study was designed to determine follicular atresia in the newborn and the prepubertal spiny mouse. We analyzed the processes of follicle loss using classical markers of apoptosis (TUNEL reaction, active caspase-3) and autophagy (Lamp1). Numerous small clear vacuoles and autophagosomes as well as strong Lamp1 staining were observed in dying oocytes of all follicle types, especially of the primordial and primary ones. Active caspase 3 and the TUNEL reaction were detected only in the granulosa cells of large secondary and antral follicles. The expression of apoptosis and autophagy markers was also changing during the prepubertal period. Western blot analysis indicated that at the moment of birth, females undergo an increased rate of follicular atresia mediated by autophagy, while apoptosis is the dominant form of ovarian atresia in consecutive postnatal days. On the basis of these observations, we concluded that apoptosis and autophagy are involved in follicular atresia and these processes are cell and developmental stage-specific.

  19. Biliary Atresia: Cellular Dynamics and Immune Dysregulation

    PubMed Central

    Feldman, Amy; Mack, Cara L.

    2012-01-01

    The cause of biliary atresia (BA) is unknown and in the past few decades the majority of investigations related to pathogenesis have centered on virus infections and immunity. The acquired or perinatal form of BA entails a progressive, inflammatory injury of bile ducts, leading to fibrosis and obliteration of both the extrahepatic and intrahepatic bile ducts. Theories of pathogenesis include viral infection, chronic inflammatory or autoimmune-mediated bile duct injury and abnormalities in bile duct development. This review will focus solely on human studies pertaining to a potential viral trigger of bile duct injury at diagnosis and provide insight into the interplay of the innate and adaptive immune responses in the pathogenesis of disease. PMID:22800972

  20. 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

  1. 21 CFR 868.5720 - Bronchial tube.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

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

  2. 21 CFR 868.5720 - Bronchial tube.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

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

  3. 21 CFR 868.5720 - Bronchial tube.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

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

  4. 21 CFR 868.5720 - Bronchial tube.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

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

  5. 21 CFR 868.5720 - Bronchial tube.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

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

  6. The Significance of Bronchial Atrophy

    PubMed Central

    Maisel, John C.; Silvers, G. Wayne; George, Marlyce S.; Dart, Gladys A.; Petty, Thomas L.; Mitchell, Roger S.

    1972-01-01

    In a 4-year period, 196 lungs from patients with and without chronic obstructive pulmonary disease were examined postmortem for the presence of atrophy in segmental and subsegmental bronchi. As a result of simultaneous postmortem spirometry, cinefluorobronchography and partitioning of airways resistance, plus later assessment of anatomic emphysema, bronchial atrophy emerges as only one of at least three factors usually cooperating in production of abnormal expiratory airway collapse. In selected cases, bronchial atrophy appears to be an important contributor to expiratory airways obstruction. ImagesFig 1 PMID:5021107

  7. [The history of bronchial asthma].

    PubMed

    Glück, U

    1992-10-01

    'Panta rhei': everything flows. The significance of bronchial asthma is currently changing to no less a degree than medicine itself. In order to know where we are, we must know where we have come from. The historical course of bronchial asthma to some extent reflects the history of medicine itself: the Hellenic systems were followed by Byzantine, Galenic teaching methods, while Humanism and the Renaissance were followed by the considerable fireworks of early modern medicine. This continued with Magendie's experimental revolution in the 19th century and, finally, analytic medical research up to today.

  8. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

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

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

    PubMed

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

    2010-01-01

    Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also present a review of the literature on non-urinary tract malformations in females with 47,XXX. We conclude that prenatal identification of the 47,XXX karyotype is an indication for detailed fetal ultrasonography which should include examination of multiple organ systems. Such prenatal screening for possible associated congenital malformations should help to ensure optimal perinatal clinical management of 47,XXX cases. 2010 S. Karger AG, Basel.

  10. 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

  11. Myoarchitecture and connective tissue in hearts with tricuspid atresia.

    PubMed

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

    1999-02-01

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

  12. Laparoscopic Kasai portoenterostomy for biliary atresia.

    PubMed

    Esteves, Edward; Clemente Neto, Eriberto; Ottaiano Neto, Miguel; Devanir, José; Esteves Pereira, Ruy

    2002-12-01

    Conventional surgery for extrahepatic bile-duct atresia (EHBDA) usually requires a large, painful, muscle-cutting laparotomy, dislodgment of the liver, and wide manipulations, followed by adhesions and possible complications that may disturb the postoperative course and hamper liver transplantation (LT). The main role of laparoscopy in EHBDA has been for diagnostic purposes. Besides all the advantages of minimally-invasive access, it allows excellent visibility and dissection of tiny hilar structures. The authors present the first two cases of successful Roux-en-Y laparoscopic portoenterostomy (LARP) for EHBDA, showing the importance of advanced technical skills and a new approach for extracorporeal enteroanastomosis. Laparoscopic hilar dissection and portoenterostomy was accomplished using four trocars. The umbilical site was used for extracorporeal Roux-en-Y enteroenterostomy, in the first case using a laparoscopic stapler and in the second a hand-sewn suture. Mean operative time was 190 min, and no operative complications were observed. Both girls became anicteric. The first is doing well 15 months after the operation with good hepatic function. The other was anicteric for 6 months, had one episode of cholangitis, developed an umbilical hernia, has shown slow and progressive hepatic failure, and is now being evaluated for possible LT. It is concluded that LARP for EHBDA can be done safely in infants using an extracorporeal transumbilical enteric anastomosis, with several advantages compared with open surgery. The role of LARP in facilitating LT is yet to be defined.

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

    PubMed

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

    1987-01-01

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

  14. [Pulmonary atresia with an intact interventricular septum].

    PubMed

    Godart, F; Fall, A L; Francart, C; Brevière, G M; Cajot, M A; Rey, C

    2005-05-01

    We report this centre's experience of the treatment and follow up of pulmonary atresia with an intact septum. 35 infants were seen during the neonatal period. Opening via catheterisation was attempted in 21 patients with initial success in 10, and 11 failures leading to urgent surgery (surgical opening, n=9) and isolated Blalock-Taussig anastomosis (n=2). Fourteen other patients underwent immediate surgery: surgical opening, n=3, and Blalock alone, n=11. Four patients died in the neonatal period: 1 after successful opening via catheterisation, 3 others after Blalock anastomosis. Five others with a Blalock anastomosis died suddenly later. By the end of follow up, 16 patients had undergone biventricular type repair, of which 7 required additional procedures. 10 others had undergone cavo-pulmonary type repair, including 4 infants in whom the initial strategy of biventricular repair had failed. The only predictive factors at birth for subsequent progression to biventricular type repair were: larger tricuspid diameter at echography (10.9 +/- 2.25 mm versus 6.34 +/- 1.74 mm, p = 0.0007) or at angiography (10.07 +/- 2.09 mm versus 8.04 +/- 2.42 mm, p = 0.039), and the right ventricular morphology (p = 0.0011) with more tripartite ventricles, and less bipartite or even unipartite ones in the biventricular group.

  15. [Therapeutic efficacy analysis of bronchoscopic interventional therapy on severe tuberculous main bronchial stenosis complicated with unilateral atelectasis].

    PubMed

    Li, Yi; Yao, Xiao-peng; Bai, Chong; Huang, Yi; Wang, Qin; Zhao, Li-Jun; Dong, Yu-chao; Teng, Hai-ying; Li, Qiang

    2011-06-01

    To observe the therapeutic efficacy of bronchoscopic interventional therapy on severe tuberculous main bronchial stenosis or atresia complicated with unilateral atelectasis. Ninety patients with severe tuberculous main bronchial stenosis or atresia complicated with unilateral atelectasis, who had received bronchoscopic interventional therapy, were divided into group A and B according to whether stents had been implanted or not. Patients in group A had been treated with electrocautery, balloon dilatation and cryotherapy. Group B had been treated with metallic stent implantation on the basis of the above interventional management. In order to observe the effectiveness, the time needed for taking effect and restenosis rate were noted. The efficacy between patients with different disease courses, radiology, bronchoscopy and dyspnea index were evaluated before treatment and after the patients' conditions were stable. Three months after treatment, the good response rate and the total effective rate of group B were higher than those of group A, 97% vs 42% (χ(2) = 29.595, P < 0.05), 100% vs 81% (χ(2) = 6.060, P < 0.05), respectively. The time needed for taking effect in group B was significantly shorter than that in group A, 0.25 month vs 1.6 month. The dyspnea indexes of both groups were significantly improved after treatment, but the improvement of group B was more significant than that of group A (u = -2.478, P < 0.05). The disease course of patients with different therapeutic efficacy was evaluated, and the median disease course was 2 months in good response efficacy patients, 3.5 months in improved patients, and 5 months in ineffective patients; the difference being significant between ineffective and good response efficacy patients (u = -3.079, P < 0.01). The restenosis rate of group B was significantly higher than that of group A, 72% vs 32% (χ(2) = 9.090, P < 0.01). The median restenosis time was 4 months in group A, and 6 months in group B. Bronchoscopy follow

  16. Preduodenal portal vein with situs inversus and duodenal atresia.

    PubMed

    Ziv, Y; Lombrozo, R; Dintsman, M

    1986-02-01

    In a 7-day-old infant referred because of bile-stained vomiting, jaundice and lack of meconium, radiological examination revealed the 'double-bubble' sign of duodenal atresia as well as dextrocardia. This infant also had a strawberry haemangioma on the right shoulder. Operation disclosed situs inversus and a preduodenal portal vein as well as duodenal atresia. A side-to-side duodeno-jejunostomy was performed successfully without damage to the anomalous vein. The history of polyhydramnion during gestation, the presence of other anomalies, the rapid onset of bile-stained vomiting and the classic 'double-bubble' sign, together appeared to indicate that the duodenal atresia was intrinsic and not due to the external pressure of the anomalous vein on the duodenum.

  17. Prevalence and pathogenesis of congenital anomalies in cerebral palsy

    PubMed Central

    Pharoah, Peter O D

    2007-01-01

    Background It has been hypothesised that cerebral palsy (CP) and other congenital anomalies are attributable to feto–fetal transfusion problems in a monochorionic multiple gestation. Thus more than one organ could be compromised leading to the coexistence of two or more anomalies in a fetus. Such anomalies in a singleton birth may be attributable to early demise of the co‐conceptus as a vanishing twin. Aim To determine whether the coexistence of congenital anomalies and CP is greater than a chance finding by comparing the prevalence of congenital anomalies in children with CP with that in the general population of children. Methods A population‐based register of children with CP born in 1966–1991 in the counties of Merseyside and Cheshire, UK, comprised the index population. Coexisting congenital anomalies were recorded. For comparison the population prevalence of congenital anomalies was obtained from eight congenital malformation registers in the UK. Results Children with CP were found to have highly significant increases in risk for microcephaly, isolated hydrocephaly, congenital anomalies of the eye, congenital cardiac anomalies, cleft lip and/or palate and congenital dislocation of the hips and talipes (p<0.001) and atresias of the oesophagus (p<0.001) and intestines (p<0.01). The relative risks ranged from 3.1 (95% CI 1.9 to 4.8; p<0.001) for congenital malformations of the cardiac septa to 116.09 (95% CI 84.0 to 162.3; p<0.001) for microcephaly. Conclusions Congenital anomalies in children with CP are found much more frequently than expected by chance. A common pathogenic mechanism may account for the coexistence of disparate congenital anomalies. A hypothesis is proposed for such a common pathogenic mechanism. PMID:17428819

  18. Bronchial responsiveness in active steelworkers.

    PubMed

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

    1998-02-01

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

  19. 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

  20. Thoracoscopic repair of esophageal atresia and tracheoesophageal fistula in neonates, first decade's experience.

    PubMed

    Rothenberg, S S

    2013-01-01

    The first thoracoscopic esophageal atresia with tracheoesophageal fistula (EATEF) repair was performed in March of 2000. This report evaluates the results and evolution of the technique in a single surgeons' experience after the first decade of thoracoscopic EATEF repair. From March 2000 to September 2012, 52 consecutive patients with type 3 EATEF, and an additional nine patients with pure esophageal atresia (EA) were repaired by or under the direct supervision of a single surgeon. Patient weight ranged from 1.2 to 3.8 kg (mean 2.6 kg). Twenty-two patients had significant associated congenital anomalies. The repairs were performed using three ports. The fistula was ligated using a single endoscopic clip, and the anastomosis was performed using a single layer of interrupted sutures. A transanastomotic tube and chest drain were left in all cases. Fifty-one of the 52 procedures were completed successfully thoracoscopically. Operative times ranged from 50 to 120 minutes (average 85 minutes). There were three clinical leaks, one in an EATEF and two in patients with long-gap pure EA, all resolved with conservative therapy. Oral feedings were started on day 5 in all other patients. Twelve of 61 patients required dilations (1-9), and 18 required a Nissen fundoplication for severe reflux. One patient required a thoracoscopic aortopexy for severe tracheomalacia. All patients are currently on full oral feedings. No patient has any evidence of chest wall asymmetry, winged scapula, or clinically significant scoliosis. There have been no recurrent fistulas. Thoracoscopic EA repair has proven to be an effective and safe technique. Initial experience resulted in a higher stricture rate, but this improved with experience and changes in technique. The results are superior to that of documented open series and avoid the morbidity of an open thoracotomy.

  1. Utility of 4D Flow mapping in Eisenmenger syndrome with pulmonary atresia.

    PubMed

    Romeih, Soha; Aguib, Heba; Yacoub, Magdi

    2016-12-01

    Management of patients with Eisenmenger syndrome with pulmonary atresia is challenging because of the complexity of the structure-function relationship of the components of the syndrome. Multi-modality imaging including cardiac magnetic resonance (CMR) 4D Flow offers unprecedented opportunities to unravel, at least in part, some of these components, and thus help in the management of these patients. In this study, we describe the use of these integrated methods with particular reference to CMR 4D Flow in a patient with Eisenmenger syndrome and pulmonary atresia and outline both the utility and the limitations. A comprehensive cardiac magnetic resonance (CMR) 4D Flow analysis was performed preoperatively and postoperatively, during peak systole, late systole, early diastole, and late diastole. The focus of the present study was to investigate the pattern of flow and dynamic changes at different levels of the aorta, as well as in the duct and the pulmonary arteries. Preoperatively, a right-handed helix and a vortex were observed in the dilated ascending aorta, and the duct flow was mainly dependent on reverse, upstream flow from the descending aorta, distal to the duct, during diastole, denoting low pulmonary vascular capacitance. Following repair, the flow in the ascending aorta and the descending aorta changed markedly. These changes included both timing and intensity of the right-handed helix, as well as the vortex in the ascending aorta. The significance of the observed changes in flow pattern and their influence on wall structure and function are discussed. Our study demonstrates the extremely powerful potential of CMR 4D Flow in the management of complex congenital anomalies.

  2. Clinical presentation and airway management of tracheal atresia: A systematic review.

    PubMed

    Smith, Mariana M; Huang, Amy; Labbé, Mathilde; Lubov, Joshua; Nguyen, Lily H P

    2017-10-01

    Tracheal atresia (TA) is a rare congenital condition that typically requires an unexpected and emergent resuscitation in the delivery room. The mortality rate associated is very high, with only a few long-term survival cases reported. We describe the findings of a systematic review on the clinical presentation and airway management of TA. Using the keywords "tracheal atresia", "tracheal agenesis" and "tracheal hypoplasia" a search through Embase and Pubmed databases was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) protocol. Articles published from 1950 to 2015 in English, French, Italian, Portuguese and Spanish were included. Exclusion criteria were cases of stillborn, and unclear diagnosis or outcome. 149 cases of TA were identified after reviewing 1125 initial references. There was a male preponderance (65%), and associated malformations were described in 94.2% of patients. Prenatal ultrasound was abnormal in 56.3% of cases, with polyhydramnios being the most common finding. The most frequent type of TA was Faro Type C. 94 (41.3%) patients did not survive beyond the first 24 h of life. Only 13 (8.4%) patients survived more than three months of life, after undergoing a variety of surgical approaches. This review, which to our knowledge is the largest one to date, confirms that TA is a rare malformation, occurs more frequently in males, and has a very high mortality rate. Depending on the presence and type of concomitant malformation, as well of the length of the remaining trachea, different surgical management options are described. Copyright © 2017 Elsevier B.V. All rights reserved.

  3. Social networks and bronchial asthma.

    PubMed

    D'Amato, Gennaro; Cecchi, Lorenzo; Liccardi, Gennaro; D'Amato, Maria; Stanghellini, Giovanni

    2013-02-01

    To focus on both positive and negative aspects of the interaction between asthmatic patients and the social networks, and to highlight the need of a psychological approach in some individuals to integrate pharmacological treatment is the purpose of review. There is evidence that in some asthmatic patients, the excessive use of social networks can induce depression and stress triggering bronchial obstruction, whereas in others their rational use can induce beneficial effects in terms of asthma management. The increasing asthma prevalence in developed countries seen at the end of last century has raised concern for the considerable burden of this disease on society as well as individuals. Bronchial asthma is a disease in which psychological implications play a role in increasing or in reducing the severity of bronchial obstruction. Internet and, in particular, social media are increasingly a part of daily life of both young and adult people, thus allowing virtual relationships with peers sharing similar interests and goals. Although social network users often disclose more about themselves online than they do in person, there might be a risk for adolescents and for sensitive individuals, who can be negatively influenced by an incorrect use. However, although some studies show an increased risk of depression, other observations suggest beneficial effects of social networks by enhancing communication, social connection and self-esteem.

  4. Bronchial haemangioma: exceptionally rare cause of haemoptysis.

    PubMed

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

    2013-12-01

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

  5. Pregnancy Complicated by Portal Hypertension Secondary to Biliary Atresia

    PubMed Central

    O'Sullivan, O. E.; Crosby, D.; Byrne, B.; Regan, C.

    2013-01-01

    Biliary atresia is a rare idiopathic neonatal cholestatic disease characterized by the destruction of both the intra- and extrahepatic biliary ducts. As the disease is progressive all cases will develop portal fibrosis, cirrhosis, and portal hypertension with the sequelae of varices, jaundice, and eventually liver failure requiring a transplant. Survival rates have improved considerably with many females living well in to be childbearing age. Due to the complexity of the disease these pregnancies are considered, high risk. We report the antenatal, intrapartum, and postpartum managements of a pregnancy complicated by biliary atresia. Furthermore, we highlight the importance of a multidisciplinary team approach in optimizing obstetric care for this high risk group. PMID:24459595

  6. Pyloric atresia: A report of ten patients.

    PubMed

    Ksia, Amine; Zitouni, Hayett; Zrig, Ahmad; Laamiri, Rachida; Chioukh, Fatma; Ayari, Eya; Sahnoun, Lassaad; Maazoun, Kais; Krichene, Imed; Mekki, Mongi; Belghith, Mohsen; Nouri, Abdellatif

    2013-01-01

    Pyloric atresia (PA) is uncommon. It occurs in 1:100000 live births. Neonates usually present soon after birth with copious non-bilious vomiting. The treatment is surgical and its prognosis is poor, especially, when it is associated with epidermolysis bullosa (EB). The aim of this study was to evaluate the clinical presentation, diagnosis, operative management, post-operative courses, and outcome in infant with PA, based in our cases and literature review. Charts of 10 patients who underwent surgery for PA in the department of paediatric surgery in a Teaching Hospital in Tunisia (Monastir) between 1990 and 2012 were reviewed. Data were analysed for demographic, clinical, therapeutic, and prognostic characteristics. The average of age at presentation was 2 days and there were six males and four females. The main presenting symptoms were non-bilious vomiting in 90% of cases. Abdominal X-ray showed gastric dilatation with an absence of gas in the rest of the intestinal tract in 90%, and a pneumoperitoneum in one. The surgical approach was laparotomy in all cases. Gastric perforation was observed in one patient and was completely repaired. The distribution of the anatomic variations was type A in nine cases and type B in one. Five patients underwent excision of the diaphragm and Heineke-Mikulicz pyloroplasty and gastroduodenostomy in the other five cases. Identified associated anomalies were Down's syndrome in one and EB in 2 (20%), one family has three affected sibling. Post-operative mortality rate was 70%. No standard surgical approach can be adopted a better management of PA or the associated anomalies depends on an early diagnosis and the availability of neonatal intensive care unit.

  7. Performance of prenatal diagnosis in esophageal atresia.

    PubMed

    Spaggiari, Emmanuel; Faure, Giuliana; Rousseau, Veronique; Sonigo, Pascale; Millischer-Bellaiche, Anne-Elodie; Kermorvant-Duchemin, Elsa; Muller, Francoise; Czerkiewicz, Isabelle; Ville, Yves; Salomon, Laurent J

    2015-09-01

    The aim of this study was to evaluate the performance of prenatal diagnosis of esophageal atresia (EA) and its associated abnormalities. We conducted a retrospective study from a pediatric database of EA managed postnatally in a single center. Prenatal data included ultrasound and magnetic resonance imaging parameters including amniotic fluid (AF) volume, stomach visualization, AF biochemistry, and associated malformations. Postnatal data included type of EA, mortality, and postnatal diagnosis of associated malformations. One hundred twenty-two cases were included. The diagnosis was suspected prenatally in 39/122 (32%) cases. Polyhydramnios was noted in 64/122 (52.4%), and the stomach was not visualized or small in 39 (32%). There was 14 (11.5%), 2 (1.6%), 101 (82.8%), 5 (4.1%), and 0 (0%) types I, II, III, IV, and V, respectively. EA was suspected prenatally in 12/14 (85.7%) in type I and in 27/108 (25%) in cases with tracheoesophageal fistula (II + III + IV + V). Magnetic resonance imaging was performed in 28 cases, which confirmed EA in 19/28 (sensitivity 67.8%). AF biochemistry was performed in 17 cases, which confirmed EA in 15/17 (sensitivity 88.2%) cases. Of the 69 syndromic associations, 41/69 (59.4%) cases were detected prenatally. Associated malformation was a strong predictor of postnatal death [19/69 vs 3/53, odds ratio 6.33 (1.76; 22.75), p < 0.01]. Prenatal diagnosis of EA remains challenging. MRI and AF biochemistry may prove useful in the diagnosis of EA. Prenatal ultrasound and MRI examination should also focus on associated anomalies. © 2015 John Wiley & Sons, Ltd. © 2015 John Wiley & Sons, Ltd.

  8. 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

  9. 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

  10. [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.

  11. Congenital cytomegalovirus

    MedlinePlus

    ... Churchill Livingstone; 2014:chap 140. Swanson EC. Congenital cytomegalovirus infection: new prospects for prevention and therapy. Pediatr Clin ... and the A.D.A.M. Editorial team. Cytomegalovirus Infections Read more Latest Health News Read more Health ...

  12. Congenital cataract

    MedlinePlus

    ... Congenital and inherited cataracts. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ... Cataracts and systemic disease. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ...

  13. Congenital syphilis

    MedlinePlus

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

  14. Congenital Abnormalities

    MedlinePlus

    ... while you are pregnant. Combination of Genetic and Environmental Problems Some congenital abnormalities may occur if there is a genetic tendency for the condition combined with exposure to certain environmental influences within the womb during critical stages of ...

  15. Congenital ptosis.

    PubMed

    SooHoo, Jeffrey R; Davies, Brett W; Allard, Felicia D; Durairaj, Vikram D

    2014-01-01

    Congenital blepharoptosis presents within the first year of life either in isolation or as a part of many different ocular or systemic disorders. Surgical repair is challenging, and recurrence necessitating more than one operation is not uncommon. Not all patients with congenital ptosis require surgery, but children with amblyopia due to astigmatic anisometropia or deprivation may benefit from early surgical correction. A variety of surgical procedures to correct congenital ptosis have been described. The choice of procedure depends on a number of patient-specific factors, such as degree of ptosis and levator function, as well as surgeon preference and resource availability. We review the genetics, associated syndromes, and surgical treatments of congenital ptosis. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. [Malignant infantile osteopetrosis revealed by choanal atresia: A case report].

    PubMed

    Ba, I D; Ba, A; Thiongane, A; Ly/Ba, A; Ba, M; Fattah, M; Faye, P M; Cissé, D F; Diouf, F N

    2016-05-01

    Malignant infantile osteopetrosis is a rare genetic disease characterized by increased bone density due to osteoclastic dysfunction. We report on the case of a 3-month-old girl who was referred to our hospital by the ENT department for severe anemia in the context of bilateral choanal atresia. Clinical examination showed failure to thrive, anemia, respiratory distress, bilateral choanal atresia, and chest deformation. The abdomen was soft with large hepatosplenomegaly. We noted a lack of eye tracking, no optical-visual reflexes, and left nerve facial paralysis. The blood count showed normocytic normochromic anemia with severe thrombocytopenia. The infectious work-up and blood smears were negative. The skeleton X-ray showed diffuse bone densification of the skull, long bones, pelvis, vertebrae, and ribs. The facial bone CT confirmed membranous choanal atresia. The molecular biology search for the TCIRG1 gene mutation was not available. The patient had supportive treatment (transfusion, oral steroid, vitamin D, oxygen, nutrition). Bone marrow transplantation was indicated but not available. She died at 6 months in a context of severe anemia and bleeding. Malignant infantile osteopetrosis is rare and symptoms are nonspecific. Diagnosis should be considered in young infants presenting refractory anemia, particularly in the context of choanal atresia. Bone marrow transplantation remains the only curative treatment.

  17. Duodenal atresia in association with situs inversus abdominus

    PubMed Central

    Shankar, Raghu; Rao, Sadashiva P.; Shetty, Kishan B.

    2012-01-01

    We report a rare association of duodenal atresia with situs inversus abdominus in a newborn. The infantogram revealed “reverse double-bubble sign” without dextrocardia. The sonography and echocardiography confirmed the diagnosis of situs inversus abdominus with multiple cardiac anomalies. Laparotomy and a duodenoduodenostomy were carried out. PMID:22529552

  18. Ulcerative Colitis in Colonic Interposition for Esophageal Atresia

    PubMed Central

    Tetangco, Eula; Elkhatib, Imad

    2016-01-01

    A 38-year-old male with a history of colonic interposition for esophageal atresia as an infant presented with dysphagia and abdominal pain. On the basis of endoscopy findings, pathology, and response to therapy, he was found to have ulcerative colitis of the colonic conduit. PMID:27847835

  19. Operative balloon dilatation for pulmonary atresia with intact ventricular septum.

    PubMed Central

    Hamilton, J R; Fonseka, S F; Wilson, N; Dickinson, D F; Walker, D R

    1987-01-01

    In six infants with pulmonary atresia and intact ventricular septum operative balloon dilatation was used to achieve continuity between the right ventricle and the main pulmonary artery as the initial procedure. Two of the six subsequently needed an aortico pulmonary shunt. All six are alive and well. Images Fig PMID:3676024

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

    PubMed Central

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

    1988-01-01

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

  1. Laparoscopic surgery for biliary atresia and choledochal cyst.

    PubMed

    Yamataka, Atsuyuki; Lane, Geoffrey J; Cazares, Joel

    2012-08-01

    Minimally invasive surgery in children has evolved to the extent that complex procedures can be performed with safety and outcome comparable with open surgery, with the advantage of minimal scarring. Here we describe the latest laparoscopic techniques used by us at the Juntendo University Hospital, Japan, for treating biliary atresia and choledochal malformation, with presentation of our postoperative management and discussion of preliminary outcomes.

  2. [Congenital diarrhoea].

    PubMed

    Buda, Piotr; Friedman-Gruszczyńska, Joanna; Książyk, Janusz

    2011-01-01

    Congenital diarrhoea of heterogenic etiology is a rare cause of chronic diarrhoea. Characteristic features are: onset in the first weeks of life, life-threatening severe dehydratation and electrolyte disorders leading to a necessity of long-term parenteral nutrition. The clinical onset may be delayed and the degree of diarrhoea may be modest, making the diagnosis difficult. The main causes of congenital diarrhoea such as intestine electrolytes, carbohydrates, lipid and protein transport disorders and congenital enzymatic deficiencies, enterocyte polarization disorders, hormonal, immunological, metabolic, genetic and congenital anatomic disorders are presented in the paper. Some of them, such as: microvillus inclusion disease, tufting enteropathy, intestinal anedocrynosis, IPEX syndrome (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) have been described recently. One of the basic investigations, when congenital diarrhea is suspected, is general examination of the stool, its electrolyte concentration and serum electrolytes and blood gas analysis. Often, small bowel biopsy with histological examination (with the use of electronic microscopy and PAS staining) is indicated. In some cases molecular examination is possible and indicated. In differential diagnosis other, more frequent causes of chronic diarrhea of infancy, have to be excluded. In most of the cases of congenital diarrhoea there is no casual treatment available - usually long-term parenteral nutrition is necessary.

  3. 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

  4. [Thoracic actinomycosis versus bronchial cancer].

    PubMed

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

    1992-01-01

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

  5. [Pharmacotherapeutical management of bronchial asthma].

    PubMed

    Leont'ev, S L; Mikhaĭlov, V G; Nevzorova, V P; Sadovnikova, R V; Shabashov, A F; Lugovkina, T K; Leshchenko, I V; Bel'tiukov, E K; Lebedeva, M K

    1998-01-01

    The analysis of the prescriptions for bronchial asthma (BA) patients in outpatient practice was made using data base created at the Regional Fund of Obligatory Health Insurance in the Sverdlovsk region with consideration of GINA principles of BA stepped care. The real structure of prescriptions was compared with the pattern drug official list for asthma care. The cost of each BA care step was calculated on the base of the computer programs. The analysis showed low quality of BA care in outpatient practice. The created computer programs are very useful for the prescriptions structure monitoring, cost-effect analysis and pharmacotherapeutical management of the diseases.

  6. [Epidural emphysema complicating bronchial asthma].

    PubMed

    Rouetbi, N; Ben Saad, A; Joobeur, S; Skhiri, N; Cheikh Mhamed, S; Mribah, H; El Kamel, A

    2012-12-01

    Epidural emphysema is an exceptional complication of bronchial asthma, revealed by an incidental finding in chest tomography. We report a case of a 21-year-old man admitted with asthma attack complicated by subcutaneous and mediastinal emphysema. Chest tomography confirmed the mediastinal emphysema and also revealed the epidural emphysema within the vertebral canal. Neurological examination was negative. The patient showed complete recovery 10days after the onset of symptoms. The epidural emphysema is a rare complication during asthma attacks. The benignity of this complication should not require a systematic chest tomography.

  7. Bronchial provocation tests in clinical practice.

    PubMed

    Borges, Marcos de Carvalho; Ferraz, Erica; Vianna, Elcio Oliveira

    2011-01-01

    Bronchial hyperresponsiveness, which consists of an exaggerated response of the airways to bronchoconstrictor stimuli, is one of the main characteristics of asthma, presented in nearly all asthmatic patients. Bronchial hyperresponsiveness may also be present in other diseases, such as allergic rhinitis, chronic obstructive pulmonary disease, cystic fibrosis, heart failure and respiratory infection, and with some medications, such as β-blockers. Bronchial provocation tests (also known as bronchial challenges) are used to evaluate bronchial responsiveness. These tests have become increasingly used over the last 20 years, with the development and validation of accurate, safe and reproducible tests, and with the publication of well-detailed protocols. Several stimuli can be used in a bronchial challenge, and they are classified as direct and indirect stimuli. There are many indications for a bronchial challenge. In this review, we discuss the main differences between direct and indirect stimuli, and the use of bronchial challenges in clinical practice, especially for confirming diagnoses of asthma, exercise-induced bronchoconstriction and cough-variant asthma, and for use among elite-level athletes.

  8. [Applications for bronchial blockers in thoracic surgery].

    PubMed

    García-Guasch, R; Campos, J H; Granell, M; Peña, J J

    2007-11-01

    One-lung ventilation is commonly used to facilitate visualization of the field during thoracic surgery. New devices for performing this technique that have become available over the past 2 decades include the Univent bronchial blocker incorporated in a single-lumen tube, the Arndt endobronchial blocker, and the Cohen endobronchial blocker. Although insertion of a double-lumen tube is still the method used most often to isolate the lung, bronchial blockade is an increasingly common technique and, in certain clinical settings, provides advantages over the double-lumen tube. This review provides an update on new concepts in the use of bronchial blockers as a technique for lung isolation and one-lung ventilation. The literature search was performed on MEDLINE through PubMed using the keywords bronchial blockers and thoracic surgery. The search span started with 1982-the year the first modern bronchial blocker was described - and ended with February 2006.

  9. Intestinal atresia and stenosis in animals: a report of 34 cases.

    PubMed

    van der Gaag, I; Tibboel, D

    1980-09-01

    Intestinal atresia was found in 29 animals and stenosis in five. Atresia was found in the duodenum in one pup; in the jejunum in nine calves, two lambs and one piglet; in the ileum in one pup, one lamb and one piglet; and in the colon in one foal, seven calves, one lamb, one piglet and three kittens. Stenosis was found in the duodenum of a foal, in the jejunum in two calves and one pup, and in both the ileum and the colon of a kitten. One lamb showed ileal atresia as well as ileal stenosis. We classified the atresia as type 1, membrane atresia (four cases); type 2, cord atresia (six cases); and type 3, blind-end atresia (19 cases). In the literature and our own study, atresia was found only in the small intestine in puppies, but in foals and kittens it was found only in the colon. Atresia of the colon is more common in animals than in man, but multiple atresia, frequent in man, is rare in animals.

  10. 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

  11. [Epidermolysis bullosa simplex congenital antenatal discovery and contribution of 3D ultrasound].

    PubMed

    Wylomanski, S; Camp, G; Philippe, H J; Le Vaillant, C

    2014-06-01

    Epidermolysis bullosa (EB) comprises a heterogeneous group of genodermatoses whose prognosis is variable. The diagnosis is suggested by prenatal ultrasound at signs, especially for junctional EB with pyloric atresia. The authors report a case of antenatal image limited skin undermining highlighted by the ultrasound three-dimensional (3D) in connection with a diagnosis of a congenital epidermolysis simplex confirmed postnatal period. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  12. Right pulmonary artery agenesis and coronary-to-bronchial artery aneurysm.

    PubMed

    De Dominicis, Florence; Leborgne, Laurent; Raymond, Alexandre; Berna, Pascal

    2011-03-01

    Isolated unilateral pulmonary artery agenesis is a rare congenital anomaly that may be complicated with hemoptysis, recurrent pulmonary infections or pulmonary hypertension. To our knowledge the occurrence of a coronary syndrome associated with a coronary-to-bronchial artery saccular aneurysmal collateralization has never been described before. A 44-year-old female presented a congenital right pulmonary artery agenesis associated with a hypotrophic and multicystic right lung complicated with recurrent bronchitis. This patient had a coronary syndrome for which the coronary artery imaging showed a coronary-to-bronchial artery collateralization with an aneurysm at this level. It gives rise to a coronary syndrome by coronary steal. Two bronchial collaterals arising from a diaphragmatic artery and the subclavian artery were also found on the computed tomography (CT)-scan. This last collateral also showed another saccular aneurysm. We first performed an embolization of those two aneurysms in order to decrease the risk of hemorrhage and coronary steal, before performing a right pneumonectomy. In this case, the surgery was indicated because of the pathological lung and the risk of postembolization ischaemia. The postoperative course was uneventful and the patient was doing well six months later.

  13. 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

  14. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

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

  15. 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.

  16. 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.

  17. 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

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

    PubMed

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

    2014-01-01

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

  19. Tracheomalacia - congenital

    MedlinePlus

    ... are floppy. Because the windpipe is the main airway, breathing difficulties begin soon after birth. Congenital tracheomalacia is very uncommon. Symptoms Symptoms can range from mild to severe, and may include: Breathing noises that may change with position and improve during ...

  20. 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…

  1. [Congenital epulis].

    PubMed

    Braga-Tavares, H; Santos, H; M-Pinto, I; Ramos, M; de Sousa, P

    2009-01-01

    Congenital epulis or gingival granular cell tumor is an uncommon benign tumor, usually diagnosed at birth as a pediculated maxilar gingival mass. Although some cases of spontaneous regression have been described, most of the lesions are surgically removed with excelent prognosis and cosmetic final result. The authors describe a case report as well as a short revision on this pathology.

  2. 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."

  3. 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…

  4. Mortality in adults with congenital heart disease.

    PubMed

    Naidu, Pavithra; Grigg, Leeanne; Zentner, Dominica

    2017-10-15

    Retrospective ascertainment of the causes of mortality in the adult congenital heart disease (ACHD) cohort of the Royal Melbourne Hospital (RMH). Deceased patients (n=73) of the 2519 ACHD patients in the Royal Melbourne Hospital registry (commenced in 1991) were identified. Retrospective analysis was undertaken. Age, gender of deceased individuals, and frequency and cause of death in different congenital diagnosis groups was explored. Between 1991 and 2015, death occurred in 3.3% of the ACHD cohort. Median age at death was 32years (IQR 26-41.5) and 51% were male. The most frequent underlying cardiac conditions were Eisenmenger's syndrome (22%), pulmonary atresia and ventricular septal defect+/-major aorto-pulmonary collateral arteries (12%), Tetralogy of Fallot (10%), transposition of great arteries (TGA) with intact ventricular septum (8%), single ventricle (8%) and congenitally corrected TGA (5%). The cause of death was available from medical records in 60 (82%) of the 73 patients. The majority of deaths were due to cardiac causes (67%) including sudden death (40%), heart failure (13%), and documented ventricular arrhythmias (8%). The most common non-cardiac cause of death was sepsis (10%). The majority of deaths in this group were due to cardiac causes with sudden death and heart failure being the most common. Identification of risk factors for sudden death might assist identification of patients who may benefit from preventative therapies including implantable cardiac defibrillator. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Early Reoperations after Primary Repair of Jejunoileal Atresia in Newborns

    PubMed Central

    Yeung, Fanny; Tam, Yuk Him; Wong, Yuen Shan; Tsui, Siu Yan; Wong, Hei Yi; Pang, Kristine Kit Yi; Houben, Christopher H; Mou, Jennifer Wai Cheung; Chan, Kin Wai; Lee, Kim Hung

    2016-01-01

    Aim: To review nine-year experience in managing jejuno-ileal atresia (JIA) by primary resection and anastomosis and identify factors associated with reoperations. Methods: From April 2006 to May 2015, all consecutive neonates who underwent bowel resection and primary anastomosis for JIA were analyzed retrospectively. Patients with temporary enterostomy were excluded. Patient demographics, types of atresia, surgical techniques, need for reoperations, and long-term outcomes were investigated. Results: A total of forty-three neonates were included, in which nineteen (44.2%) of them were preterm and fourteen (32.6%) were of low birth weight. Thirteen patients (30.2%) had jejunal atresia whereas thirty patients (69.8%) had ileal atresia. Volvulus, intussusception and meconium peritonitis were noted in 12, 8, and13 patients, respectively. Eight patients (18.6%) had short bowel syndrome after operation. Ten patients (23.3%) required reoperations from 18 days to 4 months after the initial surgery due to anastomotic stricture (n=1), adhesive intestinal obstruction (n=1), small bowel perforation (n=2) and functional obstruction (n=6). Prematurity and low birth weight were associated with functional obstruction leading to reoperation (p=0.04 and 0.01 respectively). The overall long-term survival was 97.7%. All surviving patients achieved enteral autonomy and catch-up growth at a median follow-up of 4.7 years. Conclusion: Long-term survival of JIA after primary resection and anastomosis are excellent. However, patients have substantial risk of early reoperations to tackle intraabdominal complications. PMID:27896150

  6. Asymmetric sweating and flushing in infants with esophageal atresia.

    PubMed

    Cozzi, Denis A; Mele, Ermelinda; Totonelli, Giorgia; Ceccanti, Silvia; Frediani, Simone; Cozzi, Francesco

    2009-06-01

    Of 136 infants with repaired esophageal atresia, one presented an unilateral facial flushing and 2 presented a flushing and sweating of one half of the body. The topography of these disorders and/or the associated clinical manifestations suggest that the asymmetry may be related to an instability of unilateral autonomic centers more than to a surgical injury of upper thoracic sympathetic chain during esophageal repair.

  7. [Complex Congenital Heart Disease: The Influence of Prenatal Diagnosis].

    PubMed

    Correia, Marta; Fortunato, Fabiana; Martins, Duarte; Teixeira, Ana; Nogueira, Graça; Menezes, Isabel; Anjos, Rui

    2015-01-01

    Complex congenital heart disease is a group of severe conditions. Prenatal diagnosis has implications on morbidity and mortality for most severe conditions. The purpose of this work was to evaluate the influence of prenatal diagnosis and distance of residence and birth place to a reference center, on immediate morbidity and early mortality of complex congenital heart disease. Retrospective study of complex congenital heart disease patients of our Hospital, born between 2007 and 2012. There were 126 patients born with complex congenital heart disease. In 95%, pregnancy was followed since the first trimester, with prenatal diagnosis in 42%. There was a statistically significant relation between birth place and prenatal diagnosis. Transposition of great arteries was the most frequent complex congenital heart disease (45.2%), followed by pulmonary atresia with ventricular septal defect (17.5%) and hypoplastic left ventricle (9.5%). Eighty-two patients (65.1%) had prostaglandin infusion and 38 (30.2%)were ventilated before an intervention. Surgery took place in the neonatal period in 73%. Actuarial survival rate at 30 days, 12 and 24 months was 85%, 80% and 75%, respectively. There was no statistically significant relation between prenatal diagnosis and mortality. Most patients with complex congenital heart disease did not have prenatal diagnosis. All cases with prenatal diagnosis were born in a tertiary center. Prenatal diagnosis did not influence significantly neonatal mortality, as already described in other studies with heterogeneous complex heart disease. prenatal diagnosis of complex congenital heart disease allowed an adequate referral. Most patients with complex congenital heart disease werenâÄôt diagnosed prenatally. This data should be considered when planning prenatal diagnosis of congenital heart disease.

  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. Dysphagia in Children with Esophageal Atresia: Current Diagnostic Options.

    PubMed

    Rayyan, Maissa; Allegaert, Karel; Omari, Taher; Rommel, Nathalie

    2015-08-01

    Dysphagia or swallowing disorder is very common (range, 15-52%) in patients with esophageal atresia. Children present with a wide range of symptoms. The most common diagnostic tools to evaluate esophageal dysphagia, such as upper barium study and manometry, aim to characterize anatomy and function of the esophageal body and the esophagogastric junction (EGJ). Using these technologies, a variety of pathological motor patterns have been identified in children with esophageal atresia. However, the most challenging part of diagnosing patients with esophageal dysphagia lies in the fact that these methods fail to link functional symptoms such as dysphagia with the esophageal motor disorders observed. A recent method, called pressure-flow analysis (PFA), uses simultaneously acquired impedance and manometry measurements, and applies an integrated analysis of these recordings to derive quantitative pressure-flow metrics. These pressure-flow metrics allow detection of the interplay between bolus flow, motor patterns, and symptomatology by combining data on bolus transit and bolus flow resistance. Based on a dichotomous categorization, flow resistance at the EGJ and ineffective esophageal bolus transit can be determined. This method has the potential to guide therapeutic decisions for esophageal dysmotility in pediatric patients with esophageal atresia.

  10. 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.

  11. 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

  12. Physiological perspectives of therapy in bronchial hyperreactivity.

    PubMed

    Pinto Pereira, L M; Orrett, F A; Balbirsingh, M

    1996-07-01

    This paper reviews the literature on the aetiology and therapy of bronchial hyperreactivity to describe the underlying pathophysiology, identify patients at risk and update knowledge on new and existing therapies. Information was obtained from monograms on New Drugs for Asthma, Respiratory Medicine: recent advances, Agents and Actions Supplements, Pulmonary Pharmacology, Anesth Analg, the European Journal of Respiration and a Medline literature search. Reduced airway calibre, increased bronchial contractility, altered permeability of the bronchial mucosa, humoral and cellular mediators, and dysfunctional neural regulation are critical factors for bronchial hyperreactivity, a characteristic feature of hyperreactive airways which results in bronchoconstriction after exposure to varied stimuli. Preoperative anaesthetic considerations in these patients include FEV1 and PEFR testing to assess the severity and for optimal control of the condition. Bronchospasm causing hypoxaemia is the major intraoperative problem anticipated in these patients. Current therapeutic management of bronchoconstriction focuses on the beta 2 agonists, theophylline and steroids. Besides relaxing the airway smooth muscle these agents are all capable of altering bronchial inflammatory responses. Future developments of therapy are directed towards the inflammatory components of the disease. This review has presented background information on physiological mechanisms of smooth muscle contractility, pathophysiological alterations of bronchial contractility and the pharmacological basis of therapy in bronchoconstrictive disease. Information is presented to enable the prompt arrest and reversal of airway constriction, and to maintain prophylactic treatment during the perioperative period. Intraoperative bronchospasm is managed by adequate oxygenation and reversal of bronchoconstriction.

  13. 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.

  14. Congenital scoliosis.

    PubMed

    Kose, Nusret; Campbell, Robert M

    2004-05-01

    The management of congenital scoliosis requires a systematic approach with careful attention to detail. Any fortuitous diagnosis of vertebral anomalies in infancy, even if there is no significant scoliosis at that time on x-ray, requires frequent clinical and radiographic follow-up to detect progression. The presence of associated anomalies of the spinal cord, the kidneys and the heart should be evaluated by MRI, renal ultrasound or IVP, with cardiology evaluation as indicated. Curve progression or severe vertebral anomalies known to cause curve progression require immediate treatment to prevent deformity. Significant thoracic deformity, especially in a patient with thoracic insufficiency syndrome, is best treated with expansion thoracoplasty. The patient with congenital scoliosis requires a long term commitment to care with frequent orthopaedic follow-up throughout the growing years along with routine pulmonary function assessment once the patient is able to cooperate with testing.

  15. [Congenital hydrocephalus].

    PubMed

    Malagón-Valdez, J

    2006-04-10

    Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of congenital hydrocephalus, being the first agenesis of the Sylvius' aqueduct, followed by Arnold-Chiari's malformations with mielomeningocele. In most of the cases the peritoneal-ventricle shunt is the best surgery treatment and now, the treatment with ventriculostomy of third ventricle by endoscopy has fewer complications apparently and in several cases it is the definitive treatment. The evolution of the diagnosis with the support of specific therapies is effective and the early treatment is good, of course taking into account the etiology.

  16. [Congenital ranula].

    PubMed

    Marques, Maria Inês; Morais, Sofia; Coutinho, Sílvia; de Castro, Ochoa; Rei, Ana Isabel

    2010-01-01

    The authors describe a case of congenital ranula diagnosed by a routine prenatal ultrasonography at 21 weeks of gestation. The fetal kariotype was normal. Follow-up ultrasound scans revealed no changes in the size or the position of the cyst. Fetal growth was normal as was the amniotic fluid volume. Surgical treatment was performed 3 days after a normal vaginal delivery, with excellent results.

  17. 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.

  18. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

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

  19. Esophageal and duodenal atresia with preduodenal common bile duct and portal vein in a newborn.

    PubMed

    Patti, G; Marrocco, G; Mazzoni, G; Catarci, A

    1985-04-01

    The presence of a preduodenal portal vein is an extremely rare event. Even rarer is its association with a preduodenal position of the common bile duct. In the case reported both these abnormalities were simultaneously associated with an esophageal atresia without fistula and atresia of the second duodenal portion.

  20. Unusual Cause of Esophageal Obstruction in a Neonate Presenting as Esophageal Atresia

    PubMed Central

    Joshi, Shirin S; Dhaded, Sangappa M

    2013-01-01

    Esophageal atresia is the commonest cause of obstruction to esophageal lumen in neonates. Foreign bodies in newborns are extremely rare. We report a rare case of esophageal obstruction closely mimicking atresia due to foreign bodies inserted in a female neonate with homicidal intension. PMID:26023467

  1. Duodenal Atresia In Utero in Association With Down's Syndrome and Annular Pancreas

    PubMed Central

    Clark, John F.J.; Hales, Earle; Ma, Peter; Rosser, Samuel B.

    1984-01-01

    A 28-weeks' gestational trisomic-21 male, with duodenal atresia due to annular pancreas, is presented. The atresia was diagnosed in utero by sonographic techniques. A review of the pertinent literature and discussion of management are presented. ImagesFigure 1Figure 2Figure 3Figure 4 PMID:6231382

  2. Pendelluft in the bronchial tree

    PubMed Central

    Greenblatt, Elliot E.; Butler, James P.; Venegas, Jose G.

    2014-01-01

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

  3. 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.

  4. 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

  5. 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.

  6. Imperforate hymen and vaginal atresia and their associated anomalies.

    PubMed Central

    Shaw, L M; Jones, W A; Brereton, R J

    1983-01-01

    The presenting features and associated abnormalities of imperforate hymen and vaginal atresia were studied in 24 girls under the age of 16 years. Hydrocolpos or hydrometrocolpos occurred in 8 infants, 13 older girls developed haematocolpos, but 3 of the girls had no distension of the genital tract. Seven of the older girls were diagnosed as having appendicitis. Anorectal anomalies were present in 9 of the children. Intravenous pyelography was performed on 16 girls and was normal in only one. Urinary tract investigations are indicated in all girls with vaginal outlet obstruction, and the vaginal orifice should be inspected in all girls with anorectal abnormalities. PMID:6876046

  7. 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

  8. A case of Klippel-Feil syndrome with congenital enlarged Eustachian tube.

    PubMed

    Jovankovičová, A; Jakubíková, J; Durovčíková, D

    2012-04-01

    The Klippel-Feil syndrome is a congenital anomaly characterized by fusion of the cervical vertebrae. It is often associated with serious congenital anomalies of the nervous, cardiovascular and urogenital systems. One of the anomalies which have not been thoroughly investigated to date are that accompanying Klippel-Feil syndrome and enlarged Eustachian tube. We report a case of type III Klippel-Feil syndrome with associated rib anomalies such as hypoplastic and bifid ribs, scoliosis and elevated scapula (Sprengel's disease). The patient also presented hemifacial microsomia and central facial palsy of the lower right side of the face, urogenital and cardiovascular anomaly, congenital anorectal atresia and right-sided congenital aural atresia with microtia. Computer tomography of temporal bone showed abnormal extension of the right Eustachian tube with anomalies of the middle and inner ear on this particular side. In this case report we discuss the associated anomalies of the patient with Klippel-Feil syndrome. The aim of this case report is to draw attention to very rare case of patient with Klippel-Feil syndrome and enlarged pharyngotympanic tube.

  9. Congenital anomalies

    PubMed Central

    Kunisaki, Shaun M.

    2012-01-01

    Over the past decade, amniotic fluid-derived stem cells have emerged as a novel, experimental approach for the treatment of a wide variety of congenital anomalies diagnosed either in utero or postnatally. There are a number of unique properties of amniotic fluid stem cells that have allowed it to become a major research focus. These include the relative ease of accessing amniotic fluid cells in a minimally invasive fashion by amniocentesis as well as the relatively rich population of progenitor cells obtained from a small aliquot of fluid. Mesenchymal stem cells, c-kit positive stem cells, as well as induced pluripotent stem cells have all been derived from human amniotic fluid in recent years. This article gives a pediatric surgeon’s perspective on amniotic fluid stem cell therapy for the management of congenital anomalies. The current status in the use of amniotic fluid-derived stem cells, particularly as they relate as substrates in tissue engineering-based applications, is described in various animal models. A roadmap for further study and eventual clinical application is also proposed. PMID:22986340

  10. 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

  11. The Bronchial Challenge Test: A New Direction in Asthmatic Management

    PubMed Central

    Dixon, Calvin

    1983-01-01

    Bronchial asthma can be diagnosed when a patient develops the clinical manifestations of bronchial reactivity: wheezing, cough, tachypnea, and dyspnea. Occasionally, despite immunotherapy, bronchodilator therapy, and avoidance of the provocative factors, some asthmatic patients do not respond to treatment. Bronchial inhalation challenge, a method to test airway reactivity after inhalation of a nonspecific drug, can be used to plan and assess different modes of treatment, as well as screen for bronchial hyperreactivity in an occupational setting. PMID:6827612

  12. Affinity of bronchial secretion glycoproteins and cells of human bronchial mucosa for Ricinus communis lectins.

    PubMed

    Lhermitte, M; Lamblin, G; Degand, P; Roussel, P; Mazzuca, M

    1977-01-01

    The coupling of Ricinus communis lectins to Sephadex G 25 was used in order to study mucins and other glycoproteins from human bronchial secretion. The major part of human bronchial mucins and other glycoproteins such as immunoglobulins A, bronchotransferrin and alpha1-antichymotrypsin were isolated by this procedure. A parallel study of human bronchial mucosa was achieved with peroxidase labeled Ricinus communis lectins; this study characterized goblet cells and mucous cells which contain mucins, and serous cells which are involved in the synthesis or the secretion of the other glycoproteins.

  13. Prevalence and descriptive epidemiology of esophageal atresia in the Russian Federation.

    PubMed

    Demikova, Nataliya S; Vydrych, Yulia V; Podolnaya, Marina A; Lapina, Aleksandra S; Asanov, Aliy Yu

    2016-10-01

    This study examined the prevalence of esophageal atresia (EA) and the relationship between EA and demographic factors in the Russian Federation. Data were obtained from a population-based congenital malformations registry across 14 years (2000-2013) in 24 regions of the Russian Federation and included cases of EA among live births and stillbirths. The total number of births was 6,478,706. There were 1317 cases of isolated EA, resulting in a rate of 2.03 (95% confidence interval [CI], 1.92-2.15) per 10,000 births or 1 case per 4926 births. There were differences in the prevalence of EA among regional registries of the Russian Federation. The prevalence of EA during the study period was stable. 57.3% of all cases were cases of EA with tracheo-esophageal fistula (compared with 42.7% of cases without fistula). The male/female sex ratio was 1.3. The relative risk of EA was higher for live births with birth weight less than 3000 g (relative risk [RR] = 2.58 (95% CI, 2.36-2.82), for older maternal age (RR = 1.47 (95% CI, 1.24-1.75), for males (RR = 1.09; 95% CI, 1.03-1.17), and for the first gravidity (RR = 1.17; 95% CI, 1.09-1.25). In this study, the prevalence of EA across different regions of the Russian Federation was analyzed. The prevalence of EA in the period under study remained stable, and the relative risk of EA was associated with maternal age, birth weight and gravidity. Birth Defects Research (Part A) 106:854-859, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  14. Dental management of pediatric patients affected by pulmonary atresia with ventricular septal defect: A scoping review.

    PubMed

    Garrocho-Rangel, A; Echavarría-García, A-C; Rosales-Bérber, M-A; Flores-Velázquez, J; Pozos-Guillén, A

    2017-07-01

    Congenital Heart Diseases (CHD) involves a wide range of pathological conditions, such as Pulmonary Atresia with Ventricle Septal Defect (PA/VSD). This disorder leads to the systemic circulation of oxygen-poor blood (cyanosis), with associated features and consequences in the oral cavity. Using scoping review methodology for screening and article selection, the primary objectives of this paper were as follows: first, to pose a research question; second, to identify relevant studies in order to answer the research question; third, to select and retrieve the studies; fourth, to chart the critical data, and finally, to collate, summarize, and report the results from the most important articles on the dental management of children affected with PA/VSD. Relevant articles (Randomized Controlled Trials [RCT], reviews, observational studies, and clinical case reports) published over a 10-year period were identified and retrieved from four Internet databases: PubMed; Embase/Ovid; Cochrane Library, and Google Scholar. By title and abstract screening and after removing duplicates, 24 articles were finally included in the present scoping review. According to the extracted data, the following are the most important clinical issues to be considered when treating children with PA/VSD in the dental setting: prevalence of dental caries; prevention of dental disease (oral hygiene and diet); bacteremia and infective endocarditis risk, and child behavior control and treatment under general anesthesia. Pediatric Dentists should bear in mind that early diagnosis and treatment, together a long-term follow-up of children with PA/VSD, continue to be the best approaches for achieving enhanced patient psychological well-being and, in consequence, their good quality of life.

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

    PubMed

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

    2014-09-01

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

  16. Morphology of tricuspid valve in pulmonary atresia with intact ventricular septum.

    PubMed

    Choi, Y H; Seo, J W; Choi, J Y; Yun, Y S; Kim, S H; Lee, H J

    1998-01-01

    Pulmonary atresia with intact ventricular septum (PAIVS) is a rare congenital cardiac anomaly that has been classified into two types: one is a more frequent type having dysplasia of tricuspid valve (TV) with a small annulus, underdeveloped right ventricle (RV) with a hypoplastic cavity and a hypertrophic wall; the other type has severe dysplasia of TV and dilatation of RV, right atrium (RA), and right atrioventricular junction with thinning of the RV wall. We performed a morphologic study on 11 autopsied hearts with PAIVS, giving particular emphasis to the variation of morphology of the TV. We could classify these hearts into 3 groups according to the degree of right ventricular development. In the first group of 7 cases (type I), the RVs were underdeveloped. Thick leaflets, restricted valve apparatus with short chordae, and small annuli were characteristics of the TV. In the second group of 3 cases (type II), the RVs showed marked enlargement of the cavity and thinning of the wall. The TV showed redundant, dysplastic, sail-like anterior leaflets, and the downward displacement of septal leaflet and/or posterior leaflet, which are the findings frequently observed in Ebstein's malformation. The RVs were dilated and with partially unguarded tricuspid orifice. The septal leaflet of the TV was dysplastic and, in two cases, the septal leaflet showed chordal structure at the upper surface facing the RA, which is a peculiar finding that has not been described in the literature. The remaining case was a heart with a moderately developed RV (type III). The TV showed mildly dysplastic appearance and we classify this as a separate type, because we could expect the best surgical results in this type. This type had optimal size of RV and the mildest degree of dysplasia of TV. In PAIVS, the morphology of TV correlates well with the type of the right ventricular development.

  17. 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 (

  18. Cystic biliary atresia: a wolf in sheep's clothing.

    PubMed

    Hill, Sarah J; Clifton, Matthew S; Derderian, Sarkis C; Wulkan, Mark L; Ricketts, Richard R

    2013-09-01

    Neonatal obstructive jaundice is frequently explained by biliary atresia (BA) or the presence of a choledochal cyst (CC). Cystic biliary atresia (CBA) has been a proposed as a subtype of BA with projected improved outcomes. We aimed to characterize these lesions further. We conducted an Institutional Review Board-approved review of all patients treated for obstructive jaundice at our tertiary children's hospital over 10 years. Over the decade we evaluated 91 children with obstructive jaundice: 13 CBA, 52 BA, and 26 CC. Patients with isolated CBA and BA were diagnosed significantly earlier than those with CC (15.9, 54, and 281 days, respectively; P = 0.0001). There was a significant delay between diagnosis and surgical intervention for patients with CBA compared with BA: 17 days versus 5.7 days (P = 0.004). There was no difference in rate of transplant between CBA and BA (31 vs. 50%; P = 0.35). The time from surgery until transplant was 13.9 and 18.6 months for CBA and BA, respectively (P = 0.62). Although radiographically similar to CC, CBA behaves similarly to isolated BA. Delay in recognition and surgical treatment may affect outcomes and lead to an increased incidence of liver failure. The presence of a cystic biliary malformation in the setting of neonatal jaundice should be regarded as CBA until proven otherwise.

  19. 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

  20. 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

  1. Management of Acquired Atresia of the External Auditory Canal.

    PubMed

    Bajin, Münir Demir; Yılmaz, Taner; Günaydın, Rıza Önder; Kuşçu, Oğuz; Sözen, Tevfik; Jafarov, Shamkal

    2015-08-01

    The aim was to evaluate surgical techniques and their relationship to postoperative success rate and hearing outcomes in acquired atresia of the external auditory canal. In this article, 24 patients with acquired atresia of the external auditory canal were retrospectively evaluated regarding their canal status, hearing, and postoperative success. Acquired stenosis occurs more commonly in males with a male: female ratio of 2-3:1; it seems to be a disorder affecting young adults. Previous ear surgery (13 patients, 54.2%) and external ear trauma (11 patients, 45.8%) were the main etiological factors of acquired ear canal stenosis. Mastoidectomy (12/13) and traffic accidents (8/11) comprise the majority of these etiological factors. Endaural incision is performed in 79.2% and postauricular incision for 20.8% of cases during the operation. As types of surgical approach, transcanal (70.8%), transmastoid (20.8%), and combined (8.4%) approaches are chosen. The atretic plate is generally located at the bony-cartilaginous junction (37.5%) and in the cartilaginous canal (33.3%); the bony canal is involved in a few cases only. Preserved healthy canal skin, split- or full-thickness skin grafts, or pre- or postauricular skin flaps are used to line the ear canal, but preserved healthy canal skin is preferred. The results of surgery are generally satisfactory, and complications are few if surgical principles are followed.

  2. Management of bilateral choanal atresia in a foal.

    PubMed

    James, Frances M; Parente, Eric J; Palmer, Jonathan E

    2006-12-01

    A 1-day-old Standardbred foal with a history of extreme respiratory distress after birth consistent with upper airway obstruction was evaluated. A temporary tracheostomy tube was placed by the referring veterinarian. On initial examination, there was evidence of hypoxic-ischemic syndrome, secondary to perinatal asphyxia. Endoscopy revealed obstruction of both nares at the level of the choanae; a diagnosis of bilateral choanal atresia was made. The foal was anesthetized and underwent transendoscopic laser fenestration of the buccopharyngeal membranes. Three weeks after surgery, cicatricial narrowing of the choanae was apparent and further transendoscopic ablation was performed. Recurrent stenosis necessitated revision surgeries involving a combination of laser ablation with topical administration of mitomycin and, subsequently, a combination of radial incisions into the stenotic tissue and repeated bougienage with a cuffed endotracheal tube. The degree of stenosis decreased, and at 1 year of age, the horse was an appropriate size for its age, had choanae that were almost maximally open (> 85%), and had entered training. Mild stenosis was still evident when the horse was reexamined the following year, although there was no evidence of exercise intolerance or respiratory compromise. Bilateral choanal atresia in a foal can be successfully treated via transendoscopic fenestration of the buccopharyngeal membranes, enabling the horse to subsequently participate in athletic activities. Secondary problems resulting from initial asphyxia and recurrent stenosis at the surgical site can be overcome but may require prolonged and extensive treatment.

  3. Differentially expressed genes and gene networks involved in pig ovarian follicular atresia.

    PubMed

    Terenina, Elena; Fabre, Stephane; Bonnet, Agnès; Monniaux, Danielle; Robert-Granié, Christèle; SanCristobal, Magali; Sarry, Julien; Vignoles, Florence; Gondret, Florence; Monget, Philippe; Tosser-Klopp, Gwenola

    2017-02-01

    Ovarian folliculogenesis corresponds to the development of follicles leading to either ovulation or degeneration, this latter process being called atresia. Even if atresia involves apoptosis, its mechanism is not well understood. The objective of this study was to analyze global gene expression in pig granulosa cells of ovarian follicles during atresia. The transcriptome analysis was performed on a 9,216 cDNA microarray to identify gene networks and candidate genes involved in pig ovarian follicular atresia. We found 1,684 significantly regulated genes to be differentially regulated between small healthy follicles and small atretic follicles. Among them, 287 genes had a fold-change higher than two between the two follicle groups. Eleven genes (DKK3, GADD45A, CAMTA2, CCDC80, DAPK2, ECSIT, MSMB, NUPR1, RUNX2, SAMD4A, and ZNF628) having a fold-change higher than five between groups could likely serve as markers of follicular atresia. Moreover, automatic confrontation of deregulated genes with literature data highlighted 93 genes as regulatory candidates of pig granulosa cell atresia. Among these genes known to be inhibitors of apoptosis, stimulators of apoptosis, or tumor suppressors INHBB, HNF4, CLU, different interleukins (IL5, IL24), TNF-associated receptor (TNFR1), and cytochrome-c oxidase (COX) were suggested as playing an important role in porcine atresia. The present study also enlists key upstream regulators in follicle atresia based on our results and on a literature review. The novel gene candidates and gene networks identified in the current study lead to a better understanding of the molecular regulation of ovarian follicular atresia. Copyright © 2017 the American Physiological Society.

  4. Risk factors for isolated biliary atresia, National Birth Defects Prevention Study, 1997-2002.

    PubMed

    The, Natalie S; Honein, Margaret A; Caton, Alissa R; Moore, Cynthia A; Siega-Riz, Anna Maria; Druschel, Charlotte M

    2007-10-01

    Biliary atresia is a rare birth defect that affects 1 in 12,000 to 1 in 19,500 live births. We used data from the National Birth Defects Prevention Study, a multistate case-control study, to identify potential risk factors for isolated biliary atresia (no additional unrelated major birth defects diagnosed). Infants were identified from eight states from 1997 to 2002, with clinical information abstracted from medical records. Potential risk factors assessed include: demographic factors, seasonality, preterm birth, maternal smoking, maternal alcohol use, maternal illicit drug use, maternal health, maternal medication use, maternal vitamin use, and maternal nutrition. Infants of non-Hispanic black mothers were more likely to have biliary atresia than infants of non-Hispanic white mothers (adjusted odds ratio (aOR) = 2.29, 95% confidence interval (CI) 1.07-4.93) and infants conceived during the spring season were more likely to have biliary atresia than infants conceived in winter (aOR = 2.33, 95%CI 1.05-5.16). Low intakes of vitamin E, copper, phosphorus, and beta tocopherol were associated with the occurrence of isolated biliary atresia (borderline significance). Low iron intake had a borderline inverse association with biliary atresia. While this analysis provides support for previous reports of a possible association between seasonal variation and the occurrence of biliary atresia, more data are needed to evaluate whether the seasonal variation is related to infectious agents. The role of nutrients in the development of biliary atresia remains unclear. Further studies of genetic, infectious, and nutrient exposures and the association of biliary atresia are warranted. 2007 Wiley-Liss, Inc

  5. [Treatment of atresia ani type I by balloon dilatation in 5 kittens and one puppy].

    PubMed

    Tomsa, K; Major, A; Glaus, T M

    2011-06-01

    Atresia ani is the most common anorectal anomaly in small animals. In the present study, an anal stricture (atresia ani type I) in five 3 to 8 weeks old kittens and one 4 month old puppy was treated by balloon dilation. In 4 kittens and the puppy the stricture was eliminated permanently and without complications by a single intervention. Only the smallest kitten with the most severe stenosis developed a rectal fistula as a complication of repeated balloon dilation, which necessitated surgical correction. Balloon dilation proved to be an efficient therapeutic method for anal atresia type I, and can be recommended as the treatment of choice.

  6. Case report of biliary atresia associated with preduodenal portal vein, ventricular septal defect and bilobed spleen.

    PubMed

    Yamagiwa, I; Ohta, M; Obata, K; Washio, M

    1988-04-01

    A case report of biliary atresia associated with preduodenal portal vein is presented with a review of 27 similar cases previously reported. The occurrence of associated anomalies in these 28 cases has a much higher frequency (82%) than coincidental association. They were associated with cardiovascular anomalies in 71%, polysplenia in 68%, malrotation of the intestine in 61%, situs inversus in 22% and duodenal atresia in 9%. Developmental anomaly is considered to participate strongly in the aetiology of biliary atresia combined with preduodenal portal vein.

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

    PubMed

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

    2015-01-01

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

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

    PubMed

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

    2011-08-01

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

  9. 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.

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

    PubMed

    Bähr, C; Distl, O

    2005-04-01

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

  11. Lung function and bronchial reactivity in farmers.

    PubMed Central

    Iversen, M; Dahl, R; Jensen, E J; Korsgaard, J; Hallas, T

    1989-01-01

    The purpose of this study was to evaluate the prevalence and type of lung function disorders in Danish farmers. Three samples of farmers were drawn from a group of unselected farmers who had participated in an epidemiological study. Group I (47 persons) was a sample of the 8% of all farmers who had reported that they had asthma; group II (63 persons) was a sample of the 28% of farmers who had had wheezing, shortness of breath, or cough without phlegm; and group III (34 persons) a sample of the farmers (64% of the total) who had no asthma and no respiratory symptoms. The farmers with symptoms (groups I and II) had low mean levels of FEV1 and high values for residual volume, whereas the symptomless farmers had normal lung function and no airways obstruction. The proportion of farmers with an FEV1 below the 95% confidence limit for predicted values was 43% in group I and 23% in group II; there were none in group III. Bronchial hyperreactivity to histamine occurred in 96% of asthmatic farmers, 67% of farmers with wheezing or shortness of breath, and 59% of symptomless farmers. A low level of FEV1 was associated with the number of years in pig farming and bronchial hyperreactivity in group II but not group I or III. Most of the bronchial hyperreactivity was explained in the multiple regression analysis by a low FEV1, though this was significant only for farmers in group II. Thus farmers who reported asthma, wheezing, shortness of breath, or a dry cough in general had airways obstruction with an increased residual volume, whereas symptomless farmers had normal lung function. Severe bronchial hyperreactivity was mostly explained by a diagnosis of asthma and poor lung function, though some farmers with normal lung function and no respiratory symptoms had increased bronchial reactivity. PMID:2799744

  12. Quantification of bronchial circulation perfusion in rats

    NASA Astrophysics Data System (ADS)

    Wietholt, Christian; Molthen, Robert C.; Haworth, Steven T.; Roerig, David L.; Dawson, Christopher A.; Clough, Anne V.

    2004-04-01

    The bronchial circulation is thought to be the primary blood supply for pulmonary carcinomas. Thus, we have developed a method for imaging and quantifying changes in perfusion in the rat lung due to development of the bronchial circulation. A dual-modality micro-CT/SPECT system was used to detect change in perfusion in two groups of rats: controls and those with a surgically occluded left pulmonary artery. Both groups were imaged following injections on separate days i) 2mCi of Tc99m labeled macroaggregated albumin (MAA) into the left carotid artery (IA) and ii) a similar injection into the femoral vein (IV). The IA injection resulted in Tc99m accumulation in capillaries of the systemic circulation including the bronchial circulation, whereas the IV resulted in Tc99m accumulation in the pulmonary capillaries. Ordered subset expectation maximization (OSEM) was used to reconstruct the SPECT image volumes and a Feldkamp algorithm was used to reconstruct the micro-CT image volumes. The micro-CT and SPECT volumes were registered, the SPECT image volume was segmented using the right and left lung boundaries defined from the micro-CT volume, and the ratio of IA radioactivity accumulation in the left lung to IV radioactivity accumulation in both lungs was used as a measure of left lung flow via the bronchial circulation. This ratio was ~0.02 for the untreated rats compared to the treated animals that had an increased flow ratio of ~0.21 40 days after left pulmonary artery occlusion. This increase in flow to the occluded left lung via the bronchial circulation suggests this will be a useful model for further investigating antiangiogenic treatments.

  13. Congenital hypothyroidism

    PubMed Central

    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

  14. Congenital anomalies associated with congenital hypothyroidism.

    PubMed

    Stoll, C; Dott, B; Alembik, Y; Koehl, C

    1999-01-01

    The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from 1979 to 1996. Among 129 CH infants on whom adequate data were available, 20 infants (15.5%) had associated congenital anomalies. Eight out of 76 infants with persistent CH had ETAs (10.5%) whereas 12 out of 53 children with transient hypothyroidism had ETAs (22.6%, p < 0.05). Some additional anomalies were considerably more common than in the general population. Nine infants had congenital cardiac anomalies (6.9%). This rises the question if teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETAs.

  15. [Deletion 11q23 --> qter (Jacobsen Syndrome) associated with duodenal atresia and annular pancreas].

    PubMed

    Fernández González, N; Prieto Espuñes, S; Ibáñez Fernández, A; Fernández Colomer, B; López Sastre, J; Fernández Toral, J

    2002-09-01

    Jacobsen syndrome is a rare chromosomal disorder due to terminal 11q deletion. Prominent features are growth and psychomotor retardation, trigonocephaly and a characteristic facial dysmorphism, but many different abnormalities have been reported. We present the case of a preterm male. Prenatal ultrasonography was suspicious for duodenal atresia. At birth, the boy presented the craniofacial features typical of Jacobsen syndrome, together with diffusely spread petechiae and talipes equinovarus. Hemogram revealed pancytopenia. Ultrasound examination showed left renal agenesis and confirmed the duodenal atresia. Cerebral computed tomography scan, electroencephalogram and cardiac studies showed no abnormalities. Annular pancreas was found during surgery to correct the duodenal atresia. The karyotype was 46,XY,del(11)(q23.2 --> qter), which confirmed Jacobsen syndrome.A wide spectrum of clinical features is described in Jacobsen syndrome, with phenotype-karyotype correlation. This is the first report of duodenal atresia and annular pancreas.

  16. Eosinophilic esophagitis after esophageal atresia: is there an association? Case presentation and literature review.

    PubMed

    Gorter, Ramon R; Heij, Hugo A; van der Voorn, J Patrick; Kneepkens, C M Frank

    2012-06-01

    Eosinophilic esophagitis (EoE) is a relatively new condition resulting in dysphagia or symptoms resembling gastroesophageal reflux disease, symptoms that also are common in patients with a history of esophageal atresia. We present 2 patients with persistent dysphagia after repair of esophageal atresia that was caused by EoE. Although the exact etiology and pathogenesis of EoE remain unclear, it is now generally accepted that it is the result of a T-helper cell 2-type immune response with a crucial role for the eosinophil-specific chemotaxis factor eotaxin 3 and eosinophils. Because there are genetic similarities between esophageal atresia and EoE, we speculate that patients with esophageal atresia are at increased risk for developing EoE.

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

    PubMed Central

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

    2013-01-01

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

  18. Congenital Heart Disease in Adults

    MedlinePlus

    ... and genetics may play a role. Why congenital heart disease resurfaces in adulthood Some adults may find that ... in following adults with congenital heart disease. Congenital heart disease and pregnancy Women with congenital heart disease who ...

  19. Pseudo Double Bubble: Jejunal Duplication Mimicking Duodenal Atresia on Prenatal Ultrasound

    PubMed Central

    Schwartzberg, David

    2013-01-01

    Prenatal ultrasound showing a double bubble is considered to be pathognomonic of duodenal atresia. We recently encountered an infant with prenatal findings suggestive of duodenal atresia with a normal karyotype who actually had a jejunal duplication cyst on exploration. A finding of an antenatal double bubble should lead to a thorough evaluation of the gastrointestinal tract and appropriate prenatal/neonatal testing and management as many cystic lesions within the abdomen can present with this prenatal finding. PMID:26023462

  20. A Radiological Chronicle of the Presentation and Management of a Long Gap Oesophageal Atresia

    PubMed Central

    Charlesworth, Paul; Mahomed, Anies

    2009-01-01

    Long gap oesophageal atresia is a clinically and technically challenging condition to manage. Documentation of the gap between the upper and lower pouches is critical to deciding the timing and feasibility of a primary anastamosis. Integral to this process is the role of radiology. We present a case of long gap oesophageal atresia accompanied by chronological radiography demonstrating its' staged management and highlighting some common complications. PMID:22470672

  1. 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

  2. Targeting extracellular cyclophilins ameliorates disease progression in experimental biliary atresia.

    PubMed

    Iordanskaia, Tatiana; Malesevic, Miroslav; Fischer, Gunter; Pushkarsky, Tatiana; Bukrinsky, Michael; Nadler, Evan

    2015-07-24

    Biliary atresia (BA) is a devastating liver disease of unknown etiology affecting children generally within the first 3 months of life. The disease is manifested by inflammation and subsequent obstruction of the extra-hepatic bile ducts, fibrosis and liver failure. The mechanisms responsible for disease pathogenesis are not fully understood, but a number of factors controlled by the SMAD signaling pathway have been implicated. In this study, we investigated the role of a known pro-inflammatory factor, extracellular cyclophilin A (CypA), in the pathogenesis of biliary atresia using the rhesus rotavirus (RRV) murine model. We used a unique cyclosporine A derivative, MM284, which does not enter cells and therefore inactivates exclusively extracellular cyclophilins, as a potential treatment. We demonstrated that levels of CypA in plasma of RRV-infected mice were significantly increased, and treatment of mice with MM284 prior to or one day after disease initiation by RRV infection significantly improved the status of mice with experimental BA: weight gain was restored, bilirubinuria was abrogated, liver infiltration by inflammatory cells was reduced, and activation of SMAD pathway and SMAD-controlled fibrosis mediators tissue inhibitors of MMP (TIMP)-4 and matrix metalloproteinase (MMP)-7 was alleviated. Furthermore, treatment of human hepatic stellate cells with recombinant cyclophilin recapitulated SMAD2/3 activation, which was also suppressed by MM284 treatment. In conclusion, our data provide the first evidence that extracellular cyclophilins activate the SMAD pathway and promote inflammation in experimental BA, and suggest that MM284 may be a promising therapeutic agent for treating BA and possibly other intrahepatic chronic disorders.

  3. Elevated bile acids in newborns with Biliary Atresia (BA).

    PubMed

    Zhou, Kejun; Lin, Na; Xiao, Yongtao; Wang, Yang; Wen, Jie; Zou, Gang-Ming; Gu, Xuefan; Cai, Wei

    2012-01-01

    Biliary Atresia (BA), a result from inflammatory destruction of the intrahepatic and extrahepatic bile ducts, is a severe hepatobiliary disorder unique to infancy. Early diagnosis and Kasai operation greatly improve the outcome of BA patients, which encourages the development of early screening methods. Using HPLC coupled tandem mass spectrometry, we detected primary bile acids content in dried blood spots obtained from 8 BA infants, 17 neonatal jaundice and 292 comparison infants at 3-4 days of life. Taurocholate (TC) was significantly elevated in biliary atresia infants (0.98 ± 0.62 µmol/L) compared to neonatal jaundice (0.47 ± 0.30 µmol/L) and comparison infants (0.43 ± 0.40 µmol/L), with p=0.0231 and p=0.0016 respectively. The area under receiver operating characteristic (ROC) curve for TC to discriminate BA and comparison infants was 0.82 (95% confidence interval: 0.72-0.92). A cutoff of 0.63 µmol/L produced a sensitivity of 79.1% and specificity of 62.5%. The concentrations of total bile acids were also raised significantly in BA compared to comparison infants (6.62 ± 3.89 µmol/L vs 3.81 ± 3.06 µmol/L, p=0.0162), with the area under ROC curve of 0.75 (95% confidence interval: 0.61-0.89). No significant difference was found between the bile acids of neonatal jaundice and that of comparison infants. The early increase of bile acids indicates the presentation of BA in the immediate newborn period and the possibility of TC as newborn screening marker.

  4. 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

  5. Targeting Extracellular Cyclophilins Ameliorates Disease Progression in Experimental Biliary Atresia

    PubMed Central

    Iordanskaia, Tatiana; Malesevic, Miroslav; Fischer, Gunter; Pushkarsky, Tatiana; Bukrinsky, Michael; Nadler, Evan P

    2015-01-01

    Biliary atresia (BA) is a devastating liver disease of unknown etiology affecting children generally within the first 3 months of life. The disease is manifested by inflammation and subsequent obstruction of the extrahepatic bile ducts, fibrosis and liver failure. The mechanisms responsible for disease pathogenesis are not fully understood, but a number of factors controlled by the SMAD signaling pathway have been implicated. In this study, we investigated the role of a known proinflammatory factor, extracellular cyclophilin A (CypA), in the pathogenesis of biliary atresia using the rhesus rotavirus (RRV) murine model. We used a unique cyclosporine A derivative, MM284, which does not enter cells and therefore inactivates exclusively extracellular cyclophilins, as a potential treatment. We demonstrated that levels of CypA in plasma of RRV-infected mice were increased significantly, and that treatment of mice with MM284 prior to or one day after disease initiation by RRV infection significantly improved the status of mice with experimental BA: weight gain was restored, bilirubinuria was abrogated, liver infiltration by inflammatory cells was reduced and activation of the SMAD pathway and SMAD-controlled fibrosis mediators and tissue inhibitor of metalloproteinases (TIMP)-4 and matrix metalloproteinase (MMP)-7 was alleviated. Furthermore, treatment of human hepatic stellate cells with recombinant cyclophilin recapitulated SMAD2/3 activation, which was also suppressed by MM284 treatment. Our data provide the first evidence that extracellular cyclophilins activate the SMAD pathway and promote inflammation in experimental BA, and suggest that MM284 may be a promising therapeutic agent for treating BA and possibly other intrahepatic chronic disorders. PMID:26225831

  6. Acquired aortic atresia: Catheter therapy using covered stents.

    PubMed

    Momenah, Tarek S; Khan, Muhammad A; Qureshi, Shakeel; Hijazi, Ziyad M

    2015-11-15

    To maintain aortic continuity, aortic arch interruption is usually treated surgically. We present our experience of aortic arch reconstruction using percutaneous implantation of covered stents and mid-term follow-up. To describe the feasibility, safety, and effectiveness using percutaneous placement of covered stents for functional aortic atresia and mid-term follow-up. Nine patients (7 males), mean age of 30.8 ±16.2 years (range 13-58 years) and mean body weight of 65.7± 14.9 kg (range 52-95 kg), were investigated for systemic hypertension and found to have functional aortic interruption. All were treated with percutaneous perforation, combined with balloon dilation and implantation of covered stents. After stent implantation, control angiograms were performed. All the patients had functional aortic interruption and continuity was established by perforating the atretic segment with trans-septal Brockenbrough needle or the stiff end of a guide wire. A covered Cheatham-Platinum CP stent was used to establish the luminal continuity of the aortic arch. Angiograms after stent deployment showed good forward flow through the stent and hemodynamic assessment revealed minimal gradients across the stent. The mean invasive descending aortic systolic blood pressure before stenting was 86.6 ± 14.3 mm Hg, which increased to 116.5 ± 16.3 mm Hg, after stenting (P = 0.004). The mean invasive descending aortic diastolic blood pressure before stenting was 63.6 ± 8.1 mm Hg, which increased to 79.7 ± 13.3 mm Hg after stenting (P = 0.002). Percutaneous treatment of functional aortic atresia with covered stents is feasible, safe, and effective alternative to surgery with excellent short- and mid-term results. © 2015 Wiley Periodicals, Inc.

  7. The ductus arteriosus and stenoses of the pulmonary arteries in pulmonary atresia.

    PubMed

    Elzenga, N J; Gittenberger-de Groot, A C

    1986-05-01

    Forty-one specimens with pulmonary atresia and confluent pulmonary arteries were studied to establish the frequency and the nature of anomalies of both the ductus arteriosus and the central pulmonary arteries and their possible interrelation. The specimens were divided according to the type of pulmonary atresia: valvar atresia (12 cases) versus "muscular" atresia of the pulmonary orifice (29 cases). Abnormal connexions between the duct and the adjacent great arteries, as well as stenosis of a pulmonary artery, were common in cases with atresia of the pulmonary orifice and relatively rare in cases with imperforate valve. The abnormal connexions consisted of a proximal displacement of the origin of the duct from the aorta and displacement of the entry site of the duct into the pulmonary trunk towards one of the main pulmonary arteries. A left duct thus connected to the left and a right duct to the right pulmonary artery. Pulmonary artery stenosis, exclusively occurring in those specimens with a duct connecting to a pulmonary artery, were located in the segment of pulmonary artery between the pulmonary trunk and the duct. Histological examination revealed ductal tissue in the wall of a pulmonary artery in more than half of the cases with atresia of the pulmonary orifice. Ductal tissue in a pulmonary artery and pulmonary artery stenosis frequently coexisted. It is concluded that stenoses in the central pulmonary arteries may be related to the duct. The relationship resembles that between the duct and coarctation of the aorta.

  8. Twin pregnancy complicated by esophageal atresia, duodenal atresia, gastric perforation, and hypoplastic left heart structures in one twin: a case report and review of the literature.

    PubMed

    Abou Chaar, Mohamad K; Meyers, Mariana L; Tucker, Bethany D; Galan, Henry L; Liechty, Kenneth W; Crombleholme, Timothy M; Marwan, Ahmed I

    2017-03-18

    The antenatal diagnosis of a combined esophageal atresia without tracheoesophageal fistula and duodenal atresia with or without gastric perforation is a rare occurrence. These diagnoses are difficult and can be suspected on ultrasound by nonspecific findings including a small stomach and polyhydramnios. Fetal magnetic resonance imaging adds significant anatomical detail and can aid in the diagnosis of these complicated cases. Upon an extensive literature review, there are no reports documenting these combined findings in a twin pregnancy. Therefore we believe this is the first case report of an antenatal diagnosis of combined pure esophageal and duodenal atresia in a twin gestation. We present a case of a 30-year-old G1P0 white woman at 22-week gestation with a monochorionic-diamniotic twin pregnancy discordant for esophageal atresia, duodenal atresia with gastric perforation, hypoplastic left heart structures, and significant early gestation maternal polyhydramnios. In this case, fetal magnetic resonance imaging was able to depict additional findings including area of gastric wall rupture, hiatal hernia, dilation of the distal esophagus, and area of duodenal obstruction and thus facilitated the proper diagnosis. After extensive counseling at our multidisciplinary team meeting, the parents elected to proceed with radiofrequency ablation of the anomalous twin to maximize the survival of the normal co-twin. The procedure was performed successfully with complete cessation of flow in the umbilical artery and complete cardiac standstill in the anomalous twin with no detrimental effects on the healthy co-twin. Prenatal diagnosis of complex anomalies in twin pregnancies constitutes a multitude of ethical, religious, and cultural factors that come into play in the management of these cases. Fetal magnetic resonance imaging provides detailed valuable information that can assist in management options including possible prenatal intervention. The combination of a cystic

  9. 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

  10. A Very Rare Case of Co-Existence of Cor Triatriatum Sinister and Left Pulmonary Vein Atresia

    PubMed Central

    Aparci, Mustafa; Yalcin, Murat; Isilak, Zafer; Dogan, Mehmet; Kardesoglu, Ejder

    2016-01-01

    Cor triatriatum sinister (CTS) is a rare congenital abnormality. Clinical presentation of patients with CTS mainly depends on the anatomic features of membrane and may vary from mild or moderate symptoms mimicking mitral stenosis to more severe and complicated cardioembolic stroke or a new onset heart failure. We herein have reported on a young male who presented with the signs and symptoms of mitral stenosis and was diagnosed as CTS with gradient on the orifice of the membrane after transthrocacic echocardiography. Computerized tomographic angiography revealed that the patient had unilateral, left sided pulmonary arterial hypoplasia and pulmonary vein atresia, with only the right pulmonary veins draining into the left atrial chamber. Further cardiac imaging by either computed tomography or magnetic resonance imaging is necessary in order to seek accompanying cardiac and vascular abnormalities. Patients with CTS have improved short and long term survival rates if CTS and accompanying abnormalities are surgically treated before the disease is complicated with heart failure, pulmonary hypertension, stroke and etc. PMID:27899867

  11. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia.

    PubMed

    Clifton-Bligh, R J; Wentworth, J M; Heinz, P; Crisp, M S; John, R; Lazarus, J H; Ludgate, M; Chatterjee, V K

    1998-08-01

    Congenital hypothyroidism occurs in one of every three to four thousand newborns, owing to complete or partial failure of thyroid gland development. Although thyroid hypoplasia has recently been associated with mutations in the thyrotropin (TSH) receptor, the cause of thyroid agenesis is unknown. Proteins including thyroid transcription factors 1 (TTF-1; refs 4,5) and 2 (TTF-2; refs 6,7) and Pax8 (refs 8,9) are abundant in the developing mouse thyroid and are known to regulate genes expressed during its differentiation (for example, thyroid peroxidase and thyroglobulin genes). TTF-2 is a member of the forkhead/winged-helix domain transcription factor family, many of which are key regulators of embryogenesis. Here we report that the transcription factor FKHL15 (ref. 11) is the human homologue of mouse TTF-2 (encoded by the Titf2 gene) and that two siblings with thyroid agenesis, cleft palate and choanal atresia are homozygous for a missense mutation (Ala65Val) within its forkhead domain. The mutant protein exhibits impaired DNA binding and loss of transcriptional function. Our observations represent the first description of a genetic cause for thyroid agenesis.

  12. Giant aorto-pulmonary collaterals in pulmonary atresia and ventricular septal defect: long-term survival in unoperated adults.

    PubMed

    Spaziani, Gaia; Favilli, Silvia; Fonda, Claudio; Chiappa, Enrico

    2013-08-01

    The association of pulmonary atresia and ventricular septal defect (PA/VSD) can be considered the most severe form of tetralogy of Fallot. The main feature of this congenital heart disease is represented by discontinuity between the right ventricle and pulmonary trunk or its branches; the anatomy of central pulmonary arteries is often abnormal, consequently the type and the amount of sources of pulmonary blood flow are variable. Due to evolution in surgical techniques, definitive correction is now also considered in more complex cases. A small rate of unoperated patients with PA/VSD can survive until adulthood and the arterial blood supply to the lungs, provided by major aorto-pulmonary collateral arteries (MAPCAs), is one of the main determinants of survival. We report two unoperated cases of PA/VSD and MAPCAs with long-term survival. Giant MAPCAs can occasionally be found by chest radiography in adults with unrepaired PA/VSD. Moreover, non-invasive assessment of the pulmonary arterial bed with computer tomography or MRI is helpful in these patients during follow-up. Finally, we discuss the use of oral anticoagulants and/or 5-phosphodiesterase inhibitors in these patients.

  13. Leber Congenital Amaurosis

    MedlinePlus

    ... Campaign to End Blindness Other Ways to Fight Blindness Corporate Support Volunteer Take Action You are here ... confused with congenital and hereditary optic atrophy, cortical blindness, congenital stationary night blindness, flecked retina syndrome, and ...

  14. [Serum and bronchial concentrations of amoxicillin administered with a bronchial fluidizer].

    PubMed

    Concia, E; Dos Santos, C; Marone, P; Sardi, C; Cremaschi, P

    1982-03-01

    The authors compared the serum and bronchial concentration of amoxycillin administered alone and in association with carboxymethylcysteine. The determinations were carried out in 10 patients affected with exacerbated acute and chronic bronchopneumopathies, treated first with amoxycillin alone (15 g/day in 3 administrations) and then with amoxycillin at the same dosage and carboxymethylcysteine (450 mg/day in 3 administrations). The bronchial secretions were collected during bronchoscopy performed 2 hours after the last administration of antibiotic. The bronchial secretion values of amoxycillin administered alone varied from 0.92 mcg/ml to 1.88 mcg/ml with a mean value of 1.44 mcg/ml. The percentage ratio between levels in bronchial secretion and levels in the serum varied from 12.7 to 36.1 with a mean value of 23.2. The administration of the amoxycillin-fluidizing agent association determined a statistically significant increase of the antibiotic levels in the bronchial secretions, varying from 1.26 mcg/ml to 6.39 mcg/ml, with a percentage ratio from 19.6 to 103.0.

  15. 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. © 2014 International Society for Diseases of the Esophagus.

  16. 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.

  17. Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts.

    PubMed

    Wong, D; Johnson, S M; Young, D; Iwamoto, L; Sood, S; Slavin, T P

    2013-01-01

    The proximal q arm of chromosome 15 contains breakpoint regions BP1-BP5 with the classic deletion of BP1-BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections. We report two patients with unique, never-before-reported 15q11.2 BP1-2 microdeletion syndrome findings, one with proximal esophageal atresia and distal tracheoesophageal fistula (type C) and one with congenital cataracts. Cataracts have been described in Prader-Willi syndrome but we could not find any description of cataracts in Angelman syndrome. Esophageal atresia and tracheoesophageal fistula have not been reported to our knowledge in either syndrome. A chance exists that both cases are sporadic birth defects; however, the findings of the concomitant microdeletion cannot be overlooked as a possible cause. Based on our review of the literature and the presentation of our patients, we recommend that esophageal atresia and distal tracheoesophageal fistula as well as congenital cataracts be included in the phenotypic spectrum of 15q11.2 BP1-2 microdeletion syndrome.

  18. [Genetics of congenital cardiopathies].

    PubMed

    Moreno García, M; Gómez Rodríguez, M J; Barreiro Miranda, E

    2000-07-01

    Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.

  19. Analytical performance of a bronchial genomic classifier.

    PubMed

    Hu, Zhanzhi; Whitney, Duncan; Anderson, Jessica R; Cao, Manqiu; Ho, Christine; Choi, Yoonha; Huang, Jing; Frink, Robert; Smith, Kate Porta; Monroe, Robert; Kennedy, Giulia C; Walsh, P Sean

    2016-02-26

    The current standard practice of lung lesion diagnosis often leads to inconclusive results, requiring additional diagnostic follow up procedures that are invasive and often unnecessary due to the high benign rate in such lesions (Chest 143:e78S-e92, 2013). The Percepta bronchial genomic classifier was developed and clinically validated to provide more accurate classification of lung nodules and lesions that are inconclusive by bronchoscopy, using bronchial brushing specimens (N Engl J Med 373:243-51, 2015, BMC Med Genomics 8:18, 2015). The analytical performance of the Percepta test is reported here. Analytical performance studies were designed to characterize the stability of RNA in bronchial brushing specimens during collection and shipment; analytical sensitivity defined as input RNA mass; analytical specificity (i.e. potentially interfering substances) as tested on blood and genomic DNA; and assay performance studies including intra-run, inter-run, and inter-laboratory reproducibility. RNA content within bronchial brushing specimens preserved in RNAprotect is stable for up to 20 days at 4 °C with no changes in RNA yield or integrity. Analytical sensitivity studies demonstrated tolerance to variation in RNA input (157 ng to 243 ng). Analytical specificity studies utilizing cancer positive and cancer negative samples mixed with either blood (up to 10 % input mass) or genomic DNA (up to 10 % input mass) demonstrated no assay interference. The test is reproducible from RNA extraction through to Percepta test result, including variation across operators, runs, reagent lots, and laboratories (standard deviation of 0.26 for scores on > 6 unit scale). Analytical sensitivity, analytical specificity and robustness of the Percepta test were successfully verified, supporting its suitability for clinical use.

  20. Proteomic patterns of preinvasive bronchial lesions.

    PubMed

    Rahman, S M Jamshedur; Shyr, Yu; Yildiz, Pinar B; Gonzalez, Adriana L; Li, Huiming; Zhang, Xueqiong; Chaurand, Pierre; Yanagisawa, Kiyoshi; Slovis, Bonnie S; Miller, Robert F; Ninan, Mathew; Miller, York E; Franklin, Wilbur A; Caprioli, Richard M; Carbone, David P; Massion, Pierre P

    2005-12-15

    A proteomics approach is warranted to further elucidate the molecular steps involved in lung tumor development. We asked whether we could classify preinvasive lesions of airway epithelium according to their proteomic profile. We obtained matrix-assisted laser desorption/ionization time-of-flight mass spectrometry profiles from 10-microm sections of fresh-frozen tissue samples: 25 normal lung, 29 normal bronchial epithelium, and 20 preinvasive and 36 invasive lung tumor tissue samples from 53 patients. Proteomic profiles were calibrated, binned, and normalized before analysis. We performed class comparison, class prediction, and supervised hierarchic cluster analysis. We tested a set of discriminatory features obtained in a previously published dataset to classify this independent set of normal, preinvasive, and invasive lung tissues. We found a specific proteomic profile that allows an overall predictive accuracy of over 90% of normal, preinvasive, and invasive lung tissues. The proteomic profiles of these tissues were distinct from each other within a disease continuum. We trained our prediction model in a previously published dataset and tested it in a new blinded test set to reach an overall 74% accuracy in classifying tumors from normal tissues. We found specific patterns of protein expression of the airway epithelium that accurately classify bronchial and alveolar tissue with normal histology from preinvasive bronchial lesions and from invasive lung cancer. Although further study is needed to validate this approach and to identify biomarkers of tumor development, this is a first step toward a new proteomic characterization of the human model of lung cancer tumorigenesis.

  1. Surgical experience in a baby with congenital broncho-biliary fistula.

    PubMed

    Günlemez, Ayla; Tugay, Melih; Elemen, Levent; Türker, Gülcan; Gürcan, Nagihan Inan; Demir, Hakan; Gürbüz, Yeşim; Hosten, Tulay

    2009-01-01

    Congenital tracheobiliary and bronchobiliary fistulae are rare malformations in which patent communications exist between the respiratory system and biliary tract, respectively. We present a newborn who was admitted with respiratory distress and bilious tracheal discharge. Investigation revealed a bronchobiliary fistula originating from the left main bronchus, as well as biliary atresia. Excision of the bronchobiliary fistula was successful and the connection between biliary tract and gastrointestinal system was established by performance of a Roux-en-Y cholecysto-jejunostomy. Diagnostic tools, differential diagnosis, and surgical correction strategies are discussed.

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

    PubMed

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

    2015-03-01

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

  3. Congenital duplication of the caudal region (monocephalus dipygus) in a kid goat.

    PubMed

    Corbera, J A; Arencibia, A; Morales, I; Gutierrez, C

    2005-02-01

    A case of congenital duplication (monocephalus dipygus) in a goat is described. Two pelvis and four pelvic limbs were observed in the kid. Conjoined or fused symmetric twins were diagnosed. Associated abnormalities were cleft palate and anal atresia. Most of the classically recognized teratogens were ruled out by history and serology. However, progenitors were related in the second degree. Thus, genetic factors could be suspected in this case. To the authors' best knowledge, this is the first report of monocephalus dipygus in a goat.

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

    PubMed

    Murakami, Arata

    2011-07-01

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

  5. Bronchial artery aneurysm as a cause of atelectasis.

    PubMed

    Oka, M; Fukuda, M; Terashi, K; Takatani, H; Narasaki, F; Nakano, R; Tsurutani, J; Nakamura, Y; Kasai, T; Nagashima, S; Noguchi, Y; Soda, H; Kohno, S

    1997-12-01

    A 54-year-old nonsmoker female developed atelectasis of the anterior basal segment of the right lower lobe. A non-pulsating endobronchial tumor was observed bronchoscopically obstructing the right basal bronchus. The tumor was confirmed on arteriography to be a saccular aneurysm of the right bronchial artery. The aneurysm was treated with bronchial artery embolization. Bronchial artery aneurysm, without a predisposing disease, is quite rare, but should be considered as an etiological factor of atelectasis.

  6. [Bronchial hyperresponsiveness and its importance for the clinician].

    PubMed

    Mihalache, A; Fitting, J-W

    2014-11-19

    Asthma is a chronic inflammatory airway disease, characterised by bronchial hyperresponsiveness causing bronchoconstriction, and thereby provoking typical symptoms (dyspnoea, cough, wheezing). Bronchial hyperres- ponsiveness indicates a temporary airflow limitation when exposed to a bronchoconstricting stimulus. Its measurement by challenge tests can be a valuable tool for confirming or excluding asthma, as well as for evaluating the efficacy of treatment. However, the origin of bronchial hyperresponsiveness is multifactorial and the different challenge tests are not equivalent. Direct challenge tests, like methacholine, mainly reflect chronic airway remo- delling, whereas indirect tests, like mannitol, better reflect bronchial inflammation.

  7. Malondialdehyde-acetaldehyde adducts decrease bronchial epithelial wound repair.

    PubMed

    Wyatt, Todd A; Kharbanda, Kusum K; Tuma, Dean J; Sisson, Joseph H; Spurzem, John R

    2005-05-01

    Most people who abuse alcohol are cigarette smokers. Previously, we have shown that malondialdehyde, an inflammation product of lipid peroxidation, and acetaldehyde, a component of both ethanol metabolism and cigarette smoke, form protein adducts that stimulate protein kinase C (PKC) activation in bronchial epithelial cells. We have also shown that PKC can regulate bronchial epithelial cell wound repair. We hypothesize that bovine serum albumin adducted with malondialdehyde and acetaldehyde (BSA-MAA) decreases bronchial epithelial cell wound repair via binding to scavenger receptors on bronchial epithelial cells. To test this, confluent monolayers of bovine bronchial epithelial cells were grown in serum-free media prior to wounding the cells. Bronchial epithelial cell wound closure was inhibited in a dose-dependent manner (up to 60%) in the presence of BSA-MAA than in media treated cells (Laboratory of Human Carcinogenesis [LHC]-9-Roswell Park Memorial Institute [RPMI]). The specific scavenger receptor ligand, fucoidan, also stimulated PKC activation and decreased wound repair. Pretreatment with fucoidan blocked malondialdehyde-acetaldehyde binding to bronchial epithelial cells. When bronchial epithelial cells were preincubated with a PKC alpha inhibitor, Gö 6976, the inhibition of wound closure by fucoidan and BSA-MAA was blocked. Western blot demonstrated the presence of several scavenger receptors on bronchial epithelial cell membranes, including SRA, SRBI, SRBII, and CD36. Scavenger receptor-mediated activation of PKC alpha may function to reduce wound healing under conditions of alcohol and cigarette smoke exposure where malondialdehyde-acetaldehyde adducts may be present.

  8. Eosinophils promote epithelial to mesenchymal transition of bronchial epithelial cells.

    PubMed

    Yasukawa, Atsushi; Hosoki, Koa; Toda, Masaaki; Miyake, Yasushi; Matsushima, Yuki; Matsumoto, Takahiro; Boveda-Ruiz, Daniel; Gil-Bernabe, Paloma; Nagao, Mizuho; Sugimoto, Mayumi; Hiraguchi, Yukiko; Tokuda, Reiko; Naito, Masahiro; Takagi, Takehiro; D'Alessandro-Gabazza, Corina N; Suga, Shigeru; Kobayashi, Tetsu; Fujisawa, Takao; Taguchi, Osamu; Gabazza, Esteban C

    2013-01-01

    Eosinophilic inflammation and remodeling of the airways including subepithelial fibrosis and myofibroblast hyperplasia are characteristic pathological findings of bronchial asthma. Epithelial to mesenchymal transition (EMT) plays a critical role in airway remodelling. In this study, we hypothesized that infiltrating eosinophils promote airway remodelling in bronchial asthma. To demonstrate this hypothesis we evaluated the effect of eosinophils on EMT by in vitro and in vivo studies. EMT was assessed in mice that received intra-tracheal instillation of mouse bone marrow derived eosinophils and in human bronchial epithelial cells co-cultured with eosinophils freshly purified from healthy individuals or with eosinophilic leukemia cell lines. Intra-tracheal instillation of eosinophils was associated with enhanced bronchial inflammation and fibrosis and increased lung concentration of growth factors. Mice instilled with eosinophils pre-treated with transforming growth factor(TGF)-β1 siRNA had decreased bronchial wall fibrosis compared to controls. EMT was induced in bronchial epithelial cells co-cultured with human eosinophils and it was associated with increased expression of TGF-β1 and Smad3 phosphorylation in the bronchial epithelial cells. Treatment with anti-TGF-β1 antibody blocked EMT in bronchial epithelial cells. Eosinophils induced EMT in bronchial epithelial cells, suggesting their contribution to the pathogenesis of airway remodelling.

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

    SciTech Connect

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

    1984-06-01

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

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

    PubMed

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

    2015-03-01

    Analysis of the prevalence of selected congenital anomalies in the Czech Republic in 1994-2009. Retrospective epidemiological analysis of the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic. Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used. The analysis was carried out for the entire Czech Republic, based on the data from 1994 to 2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres and laboratories in the Czech Republic. This study analyzed the postnatal and overall (including prenatally diagnosed cases) prevalence of congenital anomalies. More detailed analysis was carried out for the following diagnoses: anencephaly, spina bifida, encephalocoele, congenital hydrocephalus, omphalocoele, gastroschisis, oesophageal atresia and stenosis, anorectal anomalies, and diaphragmatic hernia. Prevalence trends were analysed using Poisson regression. In 2009, a total of 118 348 live births were recorded in the Czech Republic, 60 368 boys and 57 980 girls. Of this total, 4 653, i.e. 2 745 boys and 1 908 girls, were diagnosed with congenital anomalies. In 2007-2009, the total of life births with congenital anomalies ranged between 4.6 and 4.8 thousand per year. The respective ranges in this three-year period were in the order of 2.7 and 2.8 thousand per year for boys and 1.9 thousand per year for girls. The prevalence of postnatally diagnosed anencephaly was minimal, as most cases were diagnosed prenatally, and the data did not vary significantly. The prevalence of postnatally diagnosed cases remained at the same level. The effectiveness of the prenatal diagnosis of spina bifida increased and thus the prevalence of postnatally diagnosed cases decreased. The prevalence of

  11. 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

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

    PubMed Central

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

    2016-01-01

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

  13. Tertiary surgery for complicated repair of esophageal atresia.

    PubMed

    Ortiz, Ruben; Galán, Alba Sánchez; Martinez, Leopoldo; Dominguez, Eva; Hernández, Francisco; Santamaria, Manuel Lopez; Tovar, Juan Antonio

    2015-02-01

    The ideal repair of esophageal atresia (EA) is primary anastomosis with closure of the fistula if present. Long gap or local circumstances prompt other procedures that occasionally lead to disastrous complications. The aim of this study was to analyze the management of these complications in a tertiary referral center. A retrospective review of patients treated for EA between 1993 and 2013 was conducted. Both the patients were primarily treated by us, and referrals from elsewhere after two or more failed operations were included. In total, 23 patients were included (3/176 cases of EA treated primarily by us and 20 referrals). Of the 23 patients, 6 had type I EA, 15 type III (four long gaps), 1 type IV, and 1 type V. Cardiac anomalies were associated in seven cases, duodenal atresia in three, and Down syndrome in two patients. Primary anastomosis was initially achieved in 12 patients. Primary or secondary Foker lengthening was used in seven cases. The causes of the failure were anastomotic leaks in nine, unmanageable strictures in seven, and refistulization in five patients. These patients required 66 reoperations (median of 3 [2-7]) before inclusion in the study. Radical tertiary treatment consisted of 15 esophageal replacements (11 colonic grafts and 4 gastric pull-ups), and 1 esophageal-gastric disconnection. Five patients previously treated with esophageal replacement and referred for graft problems required 13 interventions. Two families did not give consent for one replacement and one disconnection. Complications appeared in 12 patients, and 9 additional operations were required in 7 patients. With a follow-up of 31 months (range, 4-139 months) 15 patients take all their meals per os, 5 occasionally use the gastrostomy, and 2 and 1 are fed exclusively via gastrostomy or jejunostomy. All tracheoesophageal fistulas were closed, but 15 cases are below p3 for weight and 12 for height. Three patients (13%) ultimately died 32 months (range, 9-56 months) after the

  14. [Trend of mortality of congenital malformation in children aged <5 years in Beijing, 2006-2015].

    PubMed

    Wang, J; Li, D Y; Zhang, W X; Li, Y C; Wang, J

    2017-01-10

    Objective: To investigate the change in mortality of congenital malformation in children aged <5 years in Beijing from 2006 to 2015. Methods: Using the death surveillance data in children aged <5 years in Beijing from 2006 to 2015, which was collected from the real-time surveillance network, we calculated the area and age distributions of the mortality of congenital malformation in children aged <5 years in Beijing. Meanwhile, the variations of age, time and space in the causes of deaths were discussed. Results: The mortality rate of congenital malformation in the children s decreased from 1.909‰ in 2006 to 0.703‰ in 2015, the decrease rate was 63.17%. The decrease rate was highest in neonates (71.50%) (χ(2)=57.993, P<0.01). Expect urban area (χ(2)=3.384, P>0.05), the mortality rates of congenital malformation in the children showed a downward trend in outer suburban area and suburban area (χ(2) =40.637 and 50.646, P<0.01). The proportion of the children died of congenital malformation decreased from 32.97% in 2006 to 23.24% in 2015, which mainly occurred in infancy and neonatal period (χ(2)=9.395 and 4.354, P<0.05). The constituent ratios of the children died of neural tube defects, respiratory system abnormalities and other abnormalities decreased significantly (χ(2)=13.478, 7.358, 7.912 and 10.074, P<0.01). The constituent ratios of children died of chromosomal abnormality, multiple malformations and digestive tract abnormality didn' t decreased significantly (P>0.05). In the leading causes of deaths from congenital malformation, the mortality of congenital heart disease, neural tube defects and digestive tract atresia decreased obviously (χ(2)=70.868, 18.431 and 9.225, P<0.01), except biliary atresia (χ(2)= 1.407, P>0.05). There was an obvious area specific difference between the deaths of congenital heart disease and the deaths of neural tube defects, the mortality was higher in outer suburbs than in suburban and urban area (χ(2)=45.783 and 6

  15. 13 ribs as a predictor of long gap esophageal atresia: myth or reality? Analysis of associated findings of esophageal atresia and abnormal rib count.

    PubMed

    Durell, Jonathan; Dagash, Haitham; Eradi, Bala; Rajimwale, Ashok; Nour, Shawqui; Patwardhan, Nitin

    2017-08-01

    The presence of 13 pairs of ribs on pre-operative chest x-ray has been postulated to be an indicator for long gap esophageal atresia (EA). This study sought to determine the validity of this theory and identify associated pathological conditions in patients with EA and abnormal rib count. Babies with EA from January 2005 - December 2012 were retrospectively analyzed. Information was gathered from neonatal health records and operation notes. Chest x-rays were reviewed to determine rib count. Long gap EA was defined as failure to achieve primary esophageal anastomosis. Statistical analysis performed with Fisher's exact test. Seventy-six patients were identified. Eight patients had long gap EA, with none of these patients having 13 pairs of ribs. Paradoxically, 10 patients with esophageal atresia +/- trachea-esophageal atresia (EA +/- TEF) and supernumerary ribs underwent primary repair. Nine patients had 11 pairs of ribs, of which 2 had pure EA and a long gap. Using Fisher's exact test to compare the groups of supernumary ribs and non-supernumary ribs there is a p value of 0.587. VACTERL association was identified in 40% of those with supernumerary ribs. Various associated syndromes and concomitant abnormalities were identified. We found no association between 13 pairs of ribs and long gap in esophageal atresia. Those with 13 pairs of ribs were more likely to have associated anomalies, although this was not statistically significant. Our cohort of patients was found to have a range of pathology related to genetic syndromes, further atresias, and malformations, which is well known to be associated with children born with EA +/- TEF. Prognosis study - level IV. Copyright © 2017 Elsevier Inc. All rights reserved.

  16. 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.

  17. Quantitative skin prick and bronchial provocation tests with platinum salt.

    PubMed Central

    Merget, R; Schultze-Werninghaus, G; Bode, F; Bergmann, E M; Zachgo, W; Meier-Sydow, J

    1991-01-01

    Occupational asthma due to platinum salts is a frequent disease in platinum refineries. The diagnosis is based upon a history of work related symptoms and a positive skin prick test with platinum salts. Bronchial provocation tests have not been performed in epidemiological studies because the skin test is believed to be highly specific and sensitive. As no reliable data about this issue currently exist, this study assesses the use of skin prick and bronchial provocation tests with methacholine and platinum salt in platinum refinery workers. Twenty seven of 35 workers, who were referred to our clinic with work related symptoms and nine control subjects with bronchial hyperreactivity underwent a skin prick test and bronchial provocation with methacholine and platinum salt. For skin prick and bronchial provocation tests with platinum salt a 10(-2)-10(-8) mol/l hexachloroplatinic acid solution, in 10-fold dilutions was used. Four of the 27 subjects and all controls showed neither a bronchial reaction nor a skin reaction. Twenty three subjects were considered allergic to platinum salt; 22 of these showed a fall of 50% or more in specific airway conductance after inhalation of the platinum salt solution. Four workers experienced a positive bronchial reaction despite a negative skin prick test. No correlation of responsiveness to methacholine with responsiveness to platinum salt was found, but the skin prick test correlated with the bronchial reaction to platinum salt (rs = 0.50, p less than 0.023, n = 22). One dual reaction was seen in bronchial provocation tests. Side effects of both skin tests and bronchial provocation tests with platinum salt were rare and were not encountered in workers without a skin reaction to platinum salt. It is concluded that bronchial provocation tests with platinum salts should be performed on workers with work related symptoms but negative skin tests with platinum salts. PMID:1772797

  18. Readability and quality assessment of websites related to microtia and aural atresia.

    PubMed

    Alamoudi, Uthman; Hong, Paul

    2015-02-01

    Many parents and children utilize the Internet for health-related information, but the quality of these websites can vary. The objective of this study was to assess the quality and readability of microtia and aural atresia related websites. The search engine Google was queried with the terms 'microtia' and 'aural atresia.' The first 30 results were evaluated, and those websites containing original information written in English were reviewed. Quality of content was assessed with the DISCERN instrument, and readability was assessed with the Flesch-Kincaid Reading Grade Level (FKGL) and the Flesch Reading Ease Score (FRES) tests. Each website was also reviewed for ownership and the date of last update. Sixteen microtia and 14 aural atresia websites were included for full review. The mean DISCERN score for microtia websites was 54.4 (SD=8.3), and for aural atresia websites it was 47.6 (SD=10.7), which indicates 'good' and 'fair' quality of content, respectively. Readability assessments showed an average reading level requiring a grade 10 education on FKGL, and only one microtia (6.3%) and one aural atresia (7.1%) websites were deemed to be at 'reasonable' reading level on FRES. High-quality websites that are considered easily comprehensible to the general public were lacking. Since parents and children may use websites when making treatment decisions, physicians should be aware of the quality of health information pertaining to their area of expertise available on the Internet. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  19. 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

  20. 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

  1. [Extracardiac pulmonary bypass in the treatment of tricuspid atresia].

    PubMed

    Hvass, U; Debauchez, M; Abou-Eid, G; Pansard, Y; Bohm, G; Depoix, J P; Cloez, J L; Worms, A M

    1992-05-01

    Six patients aged 1.5 to 4 years with type 13 tricuspid atresia underwent extracardiac bicavopulmonary repair. This corrective procedure comprises control of palliative aorto-pulmonary anastomosis, the construction of an anastomosis between the superior vena cava and right pulmonary artery and the interposition of an extracardiac tube of autologous pediculated pericardium between the inferior vena cava and the main pulmonary artery. This tube, fashioned from a rectangular flap, remains attached along its right border, conserving its vascular pedicle with the pericardium. Its diameter is calibrated to that of the inferior vena cava. The postoperative course was uncomplicated: all children survived. Assisted respiration was discontinued 24 to 36 hours after surgery, and the pleural drains withdrawn after 48 to 72 hours. The rhythm remained sinusal. Central venous pressure ranged from 8 to 12 mmHg. Peripheral arterial situation was over 95%. At follow-up at 3 to 15 months, the children were very active, reflecting good exercise capacity. Holter monitoring was normal. Saturation was 94 to 97%. Doppler echocardiography showed laminar blood flow. This technique insures good venous drainage without any prosthetic thrombogenic material. In addition, the pediculated pericardium conserves a potential for growth, justifying its use in small children. Long-term evaluation is essential but the initial results are encouraging and encourage perseverance with this method.

  2. Weekday vs. weekend repair of esophageal atresia and tracheoesophageal fistula.

    PubMed

    Sayari, Arash J; Tashiro, Jun; Wang, Bo; Perez, Eduardo A; Lasko, David S; Sola, Juan E

    2016-05-01

    We hypothesize that weekend esophageal atresia and tracheoesophageal fistula (EA/TEF) repair has worse outcomes compared to procedures performed on weekdays. Kids' Inpatient Database (1997-2009) was searched for EA/TEF in infants admitted at <8days of life. Cases were limited to patients who underwent repair during their hospitalization. Risk-adjusted multivariate analysis (MVA) compared complications, mortality, and resource utilization (length of stay [LOS] total charges [TC]) between weekday and weekend procedures. Overall, 861 EA/TEF cases with known day of repair were identified. Cohort survival was 96%. On risk-adjusted MVA, complication rates were higher with EA/TEF repair on a weekend (OR: 2.2) compared to a weekday. Additionally, complications (OR: 6.5) and LOS (OR: 9.3) were found to be higher among African American children compared to Caucasians. LOS was higher in patients with Medicaid (OR: 2.4) and repairs performed at non-teaching hospitals (OR: 3.2). Weekend vs. weekday procedure had no significant effect on mortality or resource utilization. By risk-adjusted MVA, increased complication rates for EA/TEF are seen in patients undergoing repair on weekends compared to weekdays. Additionally, African American children experienced higher complication rates compared to Caucasians. LOS after repair varies according to race, payer status, and hospital characteristics. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Surgical intervention for esophageal atresia in patients with trisomy 18.

    PubMed

    Nishi, Eriko; Takamizawa, Shigeru; Iio, Kenji; Yamada, Yasumasa; Yoshizawa, Katsumi; Hatata, Tomoko; Hiroma, Takehiko; Mizuno, Seiji; Kawame, Hiroshi; Fukushima, Yoshimitsu; Nakamura, Tomohiko; Kosho, Tomoki

    2014-02-01

    Trisomy 18 is a common chromosomal aberration syndrome involving growth impairment, various malformations, poor prognosis, and severe developmental delay in survivors. Although esophageal atresia (EA) with tracheoesophageal fistula (TEF) is a potentially fatal complication that can only be rescued through surgical correction, no reports have addressed the efficacy of surgical intervention for EA in patients with trisomy 18. We reviewed detailed clinical information of 24 patients with trisomy 18 and EA who were admitted to two neonatal intensive care units in Japan and underwent intensive treatment including surgical interventions from 1982 to 2009. Nine patients underwent only palliative surgery, including six who underwent only gastrostomy or both gastrostomy and jejunostomy (Group 1) and three who underwent gastrostomy and TEF division (Group 2). The other 15 patients underwent radical surgery, including 10 who underwent single-stage esophago-esophagostomy with TEF division (Group 3) and five who underwent two-stage operation (gastrostomy followed by esophago-esophagostomy with TEF division) (Group 4). No intraoperative death or anesthetic complications were noted. Enteral feeding was accomplished in 17 patients, three of whom were fed orally. Three patients could be discharged home. The 1-year survival rate was 17%: 27% in those receiving radical surgery (Groups 3 and 4); 0% in those receiving palliative surgery (Groups 1 and 2). Most causes of death were related to cardiac complications. EA is not an absolute poor prognostic factor in patients with trisomy 18 undergoing radical surgery for EA and intensive cardiac management.

  4. An analysis of early nonmortality outcome prediction in esophageal atresia.

    PubMed

    Alshehri, Abdullah; Lo, Andrea; Baird, Robert

    2012-05-01

    Advances in care for neonates with esophageal atresia (EA) has improved overall survival rates. Disease-specific prognostic scores for EA assess mortality risk without assessing patient morbidity. We undertook an analysis of these and generic scoring systems evaluating their ability to predict early nonmortality outcomes. We conducted a retrospective review of all patients with EA at our tertiary care children's hospital. Disease-specific (Spitz, Waterston, and Montreal) and generic prognostic scores (Score for Neonatal Acute Physiology II and Score for Neonatal Acute Physiology-Perinatal Extension) were calculated. Outcomes investigated included mortality and early nonmortality outcomes (leak, stricture, and recurrent fistula). These were assessed individually and as a composite "poor outcome" score. Correlations were sought, and receiver operating characteristic curves were generated. Fifty patients were included for analysis, with 5 deaths (10%) in our series. Eight patients developed a postoperative leak, 18 developed stenosis requiring dilatation, and 2 developed refistulization. Overall, 51% of survivors had a poor composite outcome. Although no prognostic score achieved statistical significance, the generic scores outperformed the disease-specific scores in predicting early nonmortality outcomes. Postoperative morbidity remains common in patients with EA. Disease-specific, preexisting prognostic scoring systems do not delineate surviving patients at risk for early complications and appears to underperform when compared with generic prognostic scores. Copyright © 2012 Elsevier Inc. All rights reserved.

  5. Lung maturity in esophageal atresia: Experimental and clinical study.

    PubMed

    Fragoso, Ana Catarina; Martinez, Leopoldo; Estevão-Costa, José; Tovar, Juan A

    2015-08-01

    Esophageal atresia and tracheoesophageal fistula (EA-TEF) survivors suffer respiratory morbidity of unclear pathogenesis. Defective lung morphogenesis has been described in the rat model. This study examined fetal lung growth and maturity in rats and patients with EA-TEF. Pregnant rats received either adriamycin or vehicle. Control and adriamycin-exposed lungs, with and without EA-TEF, were weighed and processed for RT-PCR, DNA quantification, immunofluorescence and immunoblot analysis of TTF1, VEGF, Sp-B, and α-sma. Twenty human lungs were also processed for immunofluorescence and Alcian-blue staining. Lungs from fetuses with EA-TEF (E21) showed decreased total DNA; FGF7 and TTF1 mRNA expressions were upregulated at E15 and E18, respectively. Protein expression and immunofluorescent distribution of maturity markers were similar. Lungs from stillborns with EA-TEF showed decreased epithelial expression of Sp-B and VEGF whereas those from newborns tended to have less Sp-B and more VEGF and mucous glands. The lungs of rats with EA-TEF were hypoplastic but achieved near-normal maturity. Stillborns with EA-TEF exhibited an apparently disturbed differentiation of the airway epithelium. Newborns with EA-TEF demonstrated subtle differences in the expression of differentiation markers, and increased number of mucous glands that could influence postnatal respiratory adaptation and explain some respiratory symptoms of EA-TEF survivors. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Differentiating biliary atresia from other causes of cholestatic jaundice.

    PubMed

    Robie, Daniel K; Overfelt, Sarah R; Xie, Li

    2014-09-01

    Diagnosis of biliary atresia (BA) in infants presenting with cholestatic jaundice (CJ) requires exploratory surgery with cholangiography. However, the lack of a standardized approach to preoperative evaluation of infants with CJ can lead to a high number of negative surgical explorations. We reviewed our experience with CJ and BA to determine preoperative variables that might reliably identify BA. Infants explored for possible BA over a 5-year period were retrospectively reviewed. Preoperative clinical indices and liver biopsy results were reviewed. Statistical analysis was conducted by Student's t test and Fisher's exact test (P < 0.05). Twenty patients were identified, 10 with BA and 10 without (50% negative exploration rate). Nuclear cholescintigraphy (HIDA) excretion into the gastrointestinal tract was absent in all BA and in 8 of 10 without BA. Hepatomegaly was more common in the BA group (OR = 9.3, P = 0.07). BA had higher mean (± standard error) serum gamma-glutamyl transpeptidase levels (542 ± 130 vs 139 ± 25.8 U/L in non-BA, P = 0.03). There were insignificant differences in sex, type of feeding, TPN exposure and sepsis between the two groups. Although our small sample size limits conclusions, we suggest screening infants with CJ by measuring GGT levels, absence of hepatomegaly, presence of cholic stools and/or excretion on HIDA scan to undergo pecutaneous liver biopsy given the lower likelihood of BA necessary.

  7. Coronary arterial abnormalities in pulmonary atresia with intact ventricular septum.

    PubMed

    Calder, A L; Co, E E; Sage, M D

    1987-02-15

    The incidence and severity of abnormalities of the coronary arteries were evaluated in 35 necropsy patients with pulmonary atresia and an intact ventricular septum. Right ventricular to coronary artery fistulous connections were found in more than 60% of the cases. All patients with fistulous connections had histologic abnormalities of the coronary arteries. In 50% the lesions were mild, with medial and intimal thickening producing up to moderate luminal stenosis. In 50% there was loss of normal arterial wall structure and severe narrowing or obliteration of the arterial lumen. The coronary arterial fistulas and histologic abnormalities were prevalent in those with underdevelopment of the tricuspid valve and right ventricular cavity but were not found in patients with a normal or dilated tricuspid valve anulus. The coronary arterial abnormalities were found in more than 80% of patients with a tricuspid valve/mitral valve ratio less than 1. A single coronary artery occurred in 6 patients (17%) of this series. In 80% of those with 1 coronary artery arising from the other, the aberrantly arising coronary artery crossed anteriorly to the pulmonary artery and could be at risk in surgical attempts to reconstruct the right ventricular outflow. Aortography is recommended if the coronary arteries are not clearly delineated on ventricular cineangiocardiography.

  8. 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

  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. Brain abscess in hepatopulmonary syndrome associated with biliary atresia.

    PubMed

    Morita, Keiichi; Fukuzawa, Hiroaki; Maeda, Kosaku

    2015-12-01

    The first-choice therapy for biliary atresia (BA) is Kasai hepatoportoenterostomy, which has been shown to greatly improve outcome. Various long-term complications, however, such as portal hypertension and hepatopulmonary syndrome (HPS), can occur in patients with native liver. A rare case of brain abscess in an 11-year-old girl with HPS associated with BA is reported. The patient underwent hepatoportoenterostomy for BA at 53 days of age, with resolution of hyperbilirubinemia. At 10 years of age, she was diagnosed with severe HPS with right-to-left shunting, and preparations for liver transplantation proceeded. Three months after the diagnosis, she had a right parietal brain abscess. Given that the brain abscess enlarged in size, surgical drainage of the brain abscess was performed. The postoperative course was uneventful, but a slight left hemiplegia remained at discharge. The presumed mechanism of abscess formation in HPS may be right-to-left bacterial transit through intrapulmonary vascular dilatations and/or arteriovenous fistulae. © 2015 Japan Pediatric Society.

  11. A candidate gene for choanal atresia in alpaca.

    PubMed

    Reed, Kent M; Bauer, Miranda M; Mendoza, Kristelle M; Armién, Aníbal G

    2010-03-01

    Choanal atresia (CA) is a common nasal craniofacial malformation in New World domestic camelids (alpaca and llama). CA results from abnormal development of the nasal passages and is especially debilitating to newborn crias. CA in camelids shares many of the clinical manifestations of a similar condition in humans (CHARGE syndrome). Herein we report on the regulatory gene CHD7 of alpaca, whose homologue in humans is most frequently associated with CHARGE. Sequence of the CHD7 coding region was obtained from a non-affected cria. The complete coding region was 9003 bp, corresponding to a translated amino acid sequence of 3000 aa. Additional genomic sequences corresponding to a significant portion of the CHD7 gene were identified and assembled from the 2x alpaca whole genome sequence, providing confirmatory sequence for much of the CHD7 coding region. The alpaca CHD7 mRNA sequence was 97.9% similar to the human sequence, with the greatest sequence difference being an insertion in exon 38 that results in a polyalanine repeat (A12). Polymorphism in this repeat was tested for association with CA in alpaca by cloning and sequencing the repeat from both affected and non-affected individuals. Variation in length of the poly-A repeat was not associated with CA. Complete sequencing of the CHD7 gene will be necessary to determine whether other mutations in CHD7 are the cause of CA in camelids.

  12. [100 cases of bronchial mechanical sutures].

    PubMed

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

    1990-03-01

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

  13. 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.

  14. Inhaled dopamine induces bronchodilatation in patients with bronchial asthma.

    PubMed

    Cabezas, G A; Lezama, Y; Vidal, A; Velasco, M

    1999-10-01

    To determine the probable bronchodilating effect of dopamine administered by inhalation route in patients with crisis of bronchial asthma and the effect of dopamine on bronchial motor tone. We have studied eighteen (18) patients with crisis of bronchial asthma, ten (10) subjects with bronchial hyperreactivity and ten (10) healthy subjects. Patients with other pulmonary or cardiac disease were excluded. All received by inhalation placebo (0.9% saline solution), dopamine at 0.5 microg/kg/min (controlled by heart rate and arterial pressure with a dynamap), and placebo. Respiratory parameters: forced vital capacity (FVC), forced expiratory volume at the first second (FEV1), forced maximal expiratory flow (FEFmax) and forced expiratory flow at the 50% of vital capacity (FEF50) were measured in each protocol period. Student's paired t test, Wilcoxon and Mann Whitney analysis were performed. After dopamine inhalation, there was an increase of FVC by 23% (p<0.001); an increase of FEV1 by 39% (p<0.0001); an increase of FEF50 by 33% (p<0.001) and an increase of FEFmax by 31% (p<0.001). There were no respiratory parameter changes in both, subjects with bronchial hyperreactivity and normal after dopamine inhalation. Inhaled dopamine induces bronchodilatation in patients with crisis of bronchial asthma. Inhaled dopamine neither alters basal bronchial tone in healthy subjects nor in subjects with bronchial hyperreactivity.

  15. [Safe local anesthesia in patients with bronchial asthma].

    PubMed

    Anisimova, E N; Gromovik, M V

    The paper presents the analysis of studies of local anesthesia in patients with bronchial asthma. It was found that the diagnosis of hypersensitivity to sodium metabisulfite in patients with bronchial asthma must be optimized for development of local anesthesia selection algorithm in outpatient dentistry.

  16. [Increase of nonspecific bronchial reactivity after occupational exposure to vanadium].

    PubMed

    Pistelli, R; Pupp, N; Forastiere, F; Agabiti, N; Corbo, G M; Tidei, F; Perucci, C A

    1991-01-01

    A study was conducted to evaluate the level of bronchial responsiveness among workers recently exposed to vanadium pentoxide during periodical removal of ashes and clinker from the boilers of an oil-fired power station. A total of 11 male workers were examined 40-60 hours after the last exposure; male subjects, comparable as to age and smoking habits and not exposed to vanadium, were randomly chosen among the employees of the same power station as a control group. None of the subjects in the two groups had symptoms of bronchial inflammation or significant airways obstruction. However, bronchial responsiveness, investigated using a methacholine challenge test, was significantly higher in the exposed group. It is suggested that exposure to vanadium increases bronchial responsiveness even without clinical appearance of bronchial symptoms. The role of such increased level of airways responsiveness as a risk factor for chronic obstructive lung disease is speculated.

  17. Simultaneous Vibrant Soundbridge Implantation and 2nd Stage Auricular Reconstruction for Microtia with Aural Atresia

    PubMed Central

    Lim, Lynne Hsueh Yee; Xiang, Ling; del Prado, Jocelynne; Ee Chin, Ling; Beltrame, Millo Achille

    2011-01-01

    Aural atresia and severe microtia are associated malformations that result in problems with hearing and cosmesis, associated speech and language difficulties and diminished self-esteem. In cases where middle ear ossiculoplasty and aural atresia canalplasty are expected to give poor hearing outcomes that would eventually require the use of hearing aids, bone anchored hearing aids or active middle ear implants may be better options. This case report describes a simultaneous Vibrant Soundbridge implantation and 2nd stage auricular reconstruction with rib graft cartilage for an 11-year-old boy with grade III microtia and aural atresia 8 months after the 1st stage reconstruction. Audiometric results of the Vibrant Soundbridge aided ear were comparable to that of the contralateral hearing aid aided ear. PMID:26557321

  18. 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

  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.

  20. Simultaneous Vibrant Soundbridge Implantation and 2nd Stage Auricular Reconstruction for Microtia with Aural Atresia.

    PubMed

    Lim, Lynne Hsueh Yee; Xiang, Ling; Del Prado, Jocelynne; Ee Chin, Ling; Beltrame, Millo Achille

    2011-07-01

    Aural atresia and severe microtia are associated malformations that result in problems with hearing and cosmesis, associated speech and language difficulties and diminished self-esteem. In cases where middle ear ossiculoplasty and aural atresia canalplasty are expected to give poor hearing outcomes that would eventually require the use of hearing aids, bone anchored hearing aids or active middle ear implants may be better options. This case report describes a simultaneous Vibrant Soundbridge implantation and 2(nd) stage auricular reconstruction with rib graft cartilage for an 11-year-old boy with grade III microtia and aural atresia 8 months after the 1(st) stage reconstruction. Audiometric results of the Vibrant Soundbridge aided ear were comparable to that of the contralateral hearing aid aided ear.

  1. Simple Technique of Bridging Wide Gap in Esophageal Atresia with Tracheoesophageal Fistula - "Surgical Innovation".

    PubMed

    Sharma, A K; Mangal, D

    2017-01-01

    The survival of the patients with esophageal atresia an tracheo esophageal fistula is believed to be an epitome of the success of the neonatal surgery. Restoring the continuty of the food pipe by esophagus to esophagus anastomosis is the best option. Preservation of natural esophagus by delayed repair in a wide gap esophageal atresia is a preferred technique worldwide, however such a management required prolonged hospitalization and dedicated nursing care, which is often not available in most of the centres in India. Esophageal substitutes in wide gap requires multiple operations and have long term problems, so remains the last option. I use the technique of oblique anastomosis which had distrinct advantage over circular anastomosis in the management of esophageal atresia1. This techniqe helps in bridging wide gap to some extent & minimal stricture formation.

  2. Language and motor skills are impaired in infants with biliary atresia before transplantation.

    PubMed

    Caudle, Susan E; Katzenstein, Jennifer M; Karpen, Saul J; McLin, Valérie A

    2010-06-01

    To test the hypothesis that in very young patients with biliary atresia, cognitive deficits are apparent before transplantation. With the Mullen Scales of Early Learning (Mullen), we examined 15 infants (mean age, 7.8 months) with biliary atresia, correlating Mullen scores with standard clinical and biochemical parameters. Overall, participants displayed significant delays in gross motor and language skills, and fine motor and visual reasoning skills were relatively preserved. The international normalized ratio correlated inversely with gross (P < .01) and fine (P < .05) motor skills. Growth parameters correlated positively with expressive language ability, but length of hospitalization and mode of feeding did not. Age at performance of the Kasai procedure was found to correlate with receptive language performance (P < .05). Very young children with biliary atresia display a characteristic profile of early developmental deficits before transplantation. These findings suggest that early intervention and aggressive nutritional management should be the standard of care to minimize neurocognitive effects. Copyright 2010 Mosby, Inc. All rights reserved.

  3. Congenital overinflation: prenatal MRI and US findings and outcomes.

    PubMed

    Johnston, Jennifer H; Kline-Fath, Beth M; Bitters, Constance; Calvo-Garcia, Maria A; Lim, Foong-Yen Y

    2016-06-01

    The purpose is to describe fetal MR and US findings of congenital overinflation (CO) and to correlate with postnatal outcome. Two radiologists reviewed fetal MR and US images in 25 fetuses diagnosed with CO. Lesion size, appearance, location, and presence of hydrops were documented. Chart review was performed for pregnancy outcome, postnatal imaging, interventions, histopathology, and clinical outcome. All lesions demonstrated primarily homogeneous increased echogenicity and MR signal with absent pulmonary vascular distortion. A tubular cystic hilar structure was consistent with a dilated bronchus (68% MR, 25% US). The right lower (32%) and left lower (23%) lobes were most commonly involved. Two cases with central bronchial obstruction resulted in perinatal demise. Of 23 live births, 17 were asymptomatic, 1 symptomatic, and 5 lost to follow-up. Postnatal CT was performed in 17 of 18 patients confirming CO. Histopathology in nine patients revealed bronchial anomalies with hyperinflated (n = 7) or polyalveolar lung (n = 2). Nine patients were observed and remained asymptomatic. Fetal MR and US demonstrate a consistent pattern of imaging findings in fetuses with CO. Many cases are asymptomatic and can be managed with nonsurgical conservative therapy. CO because of central bronchial obstruction is associated with a guarded prognosis. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  4. Perforin and granzymes work in synergy to mediate cholangiocyte injury in experimental biliary atresia

    PubMed Central

    Shivakumar, Pranavkumar; Mourya, Reena; Bezerra, Jorge A.

    2013-01-01

    Background and Aims Biliary atresia represents obstructive cholangiopathy in infants progressing rapidly to cirrhosis and end-stage liver disease. Activated NK cells expressing Nkg2d have been linked to bile duct injury and obstruction by establishing contact with cholangiocytes. To define the mechanisms used by cytotoxic cells, we investigated the role of perforin and granzymes in a neonatal mouse model of rotavirus (RRV)-induced biliary atresia. Methods We used complementary cell lysis assays, flow cytometric analyses, quantitative PCRs and in vivo systems to determine the mechanisms of bile duct epithelial injury and the control of the tissue phenotype in experimental biliary atresia. Results RRV-infected hepatic NK and CD8 T cells increased the expression of perforin and injured cholangiocytes in short-term culture in a perforin-dependent fashion. However, the loss of perforin in vivo delayed but did not prevent the obstruction of bile ducts. Based on the increased expression of granzymes by perforin-deficient cytotoxic cells in long-term cytolytic assays, we found that the inhibition of granzymes by nafamostat mesilate (FUT-175) blocked cholangiocyte lysis. Administration of FUT-175 to perforin-deficient mice after RRV infection decreased the development of jaundice, minimized epithelial injury, and improved long-term survival. However, the inhibition of granzymes alone in wild-type mice was not sufficient to prevent the atresia phenotype in newborn mice. In infants with biliary atresia, hepatic Granzymes A and B mRNA, but not Perforin, increased at the time of portoenterostomy. Conclusions Perforin and granzymes have complementary roles mediating epithelial injury by NK and CD8 T cells. The prevention of experimental biliary atresia can only be achieved by inhibiting both granules. PMID:24096050

  5. 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.

  6. A case report of bicornis bicollis uterus with unilateral cervical atresia: an unusual aetiology of chronic debilitating pelvic pain in a Cameroonian teenager.

    PubMed

    Dohbit, Julius Sama; Meka, Esther; Tochie, Joel Noutakdie; Kamla, Igor; Mwadjie, Darolles; Foumane, Pascal

    2017-06-02

    Congenital uterine anomalies like bicornis or bicornuate uterus are relatively rare in sub-Saharan Africa. They are associated with an increased rate of spontaneous abortion, preterm delivery, and infertility. The occurrence of bicornis bicollis uterus with unilateral cervical atresia is exceptional and its management is controversial. We hereby report a rare cause of chronic pelvic pain in a Cameroonian teenager due to unilateral obstructive hematometra and hematosalpinx in the non-communicating horn of a bicornis bicollis uterus. A 13-year-old premenarchal non-virgin female presented with chronic and severe cyclical crampy pelvic pain. On clinical examination, she had a perforated hymen, a single vagina, and one uterine cervix. A two-dimensional pelvic ultrasonography revealed hematometra but missed out the underlying anomaly. Failure to drain the hematometra by serial cervical dilatations prompted an exploratory laparotomy which revealed: bicornis bicollis uterus with a right rudimentary uterine horn communicating with the vagina and a left non-communicating uterine horn distended by hematometra due to a homolateral cervical atresia. She underwent utero-vaginal canalization and a left hemi-hysterotomy with drainage of the hematometra. The postoperative period was uneventful. Regular cyclic menses occurred thereafter beginning at the first postoperative month. She had complete resolution of symptoms without recurrence after six months. Due to the risk of compromised fertility from bicornis uterus and the diagnostic challenges akin to resource-limited settings, we highlight the need for a high index of suspicion by healthcare providers when faced with chronic pelvic pain in premenarchal adolescents.

  7. Congenital defects of sheep.

    PubMed

    Dennis, S M

    1993-03-01

    With increasing incrimination of viruses, plants, and drugs as causes of ovine congenital defects, concerted efforts are required to identify environmental teratogens. Expanding knowledge of congenital defects requires studying as many defective lambs as possible; recording and documenting; detailed diagnostic examinations; genetic analyses and chromosomal examinations, whenever possible; and field investigations. Adopting standardized classification, terminology, and diagnostic procedures should improve descriptions, diagnoses, and interdisciplinary exchange of information. That, in turn, should improve our knowledge of and diagnosis of congenital defects of sheep in the future. Finally, veterinary clinicians and diagnosticians are encouraged to take an interest in congenital defects and teratology.

  8. Serum zinc, bronchiectasis, and bronchial carcinoma

    PubMed Central

    Beeley, J. M.; Darke, C. S.; Owen, G.; Cooper, R. D.

    1974-01-01

    Beeley, J. M., Darke, C. S., Owen, G., and Cooper, R. D. (1974).Thorax, 29, 21-25. Serum zinc, bronchiectasis, and bronchial carcinoma. Serum zinc levels were measured by atomic absorption spectrophotometry in 65 patients with proven bronchiectasis; the mean level was 93 μg/100 ml, while the levels in two groups of healthy control subjects were 88·6 and 92·7 μg/100 ml respectively. The range of individual values was similar in all groups and the differences between the mean serum zinc levels of the two groups of control subjects and the mean level of the group of patients with bronchiectasis were small and did not attain significance at the conventional 0·05 level. In contrast, the mean level in bronchial carcinoma patients (75·9 μg/100 ml) was significantly less than in each of the other groups of subjects. Zinc sulphate was administered for six weeks on a double-blind cross-over basis to patients with bronchiectasis and, although serum zinc levels rose, no detectable clinical improvement resulted. No definitive evidence of zinc deficiency in bronchiectasis has been established. PMID:4596632

  9. 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.

  10. Bronchial reactions to exposure to welding fumes.

    PubMed Central

    Contreras, G R; Chan-Yeung, M

    1997-01-01

    OBJECTIVES: To study the airway response and its mechanism to welding fumes in six welders with respiratory symptoms. METHODS: Methacholine and welding challenge tests were carried out. The concentration of welding fumes during the exposure test was measured. On two subjects who developed bronchoconstricition to welding challenge, additional tests were carried out including prick, patch, and inhalation challenges with metal salt solutions. RESULTS: Three subjects developed immediate bronchial reaction to exposure to welding fume; one to mild steel and stainless steel welding, another to mild steel and galvanised welding, and one only to galvanised welding. They all had a moderate to pronounced degree of non-specific bronchial hyperresponsiveness. The concentration of fumes during welding tests, particularly to galvanised welding, was high. An inhalation challenge test with zinc chloride salt solution in two subjects who reacted to galvanised welding was negative. Prick and patch tests with zinc chloride were also negative. CONCLUSION: The airway response to welding in these subjects is non-specific and is due to irritation rather than to sensitisation. PMID:9538358

  11. [Morphofunctional correlation in congenital anomalies of the coronary arteries. I. Coronary artery fistulas].

    PubMed

    Rangel-Abundis, A; Muñoz-Castellanos, L; Marín, G; Chávez Pérez, E; Badui, E

    1994-01-01

    In order to explain the congenital coronary arteries malformations, the authors review the recent concepts on the coronary artery morphogenesis, based in the findings that in the human embryo, these arteries evolve from three sources: 1) endothelial aortic buds, 2) cavitary cellular groups from pericardial origin and with angiogenic character, which migrate to the cardiac zones where the coronary arteries will be distributed, and 3) the intramyocardial sinusoids. The anatomic and histologic cardiac alterations will be reflected in modifications of the coronary artery pattern. The coronary artery fistulae are formed by the persistence of the sponge structure of the myocardial wall, present in the early ontogenic steps of the cardiac development; such fistulae alter the normal functions of the coronary vascular tree and are capable to cause angina pectoris to the patient through diverse mechanisms: absence of capillarization, steal phenomenon aggravated by the altered coronary arteries properties when aneurysm or vascular channels are developed. The authors suggest a classification of the congenital coronary arteries anomalies: I. Anomalous origin in the sinus of Valsalva (anomalous and ectopic origin), II. Malformations of the coronary branches (in number, distribution and wall anomalies) and III. Anomalous connection of the coronary arteries: fistulae and persistence of the intramyocardial sinusoids isolated or communicated to left and right ventricles. The latter are frequently associated with aortic or pulmonary valve atresia. They do not cause myocardial ischemia and are formed secondary to the intracavitary elevated pressure which maintained the persistence, dilatation and communication of the ventricular chambers with such sinusoids and coronary arteries in the case of pulmonary valve atresia and with coronary veins in the case of aortic valve atresia.

  12. Development of pediatric and congenital heart surgery in latin america: accomplishments and remaining challenges.

    PubMed

    Kreutzer, Christian; Capelli, Horacio; Sandoval, Nestor; Jatene, Marcelo; Kreutzer, Guillermo

    2011-04-01

    In the last 70 years, congenital heart surgery has dramatically evolved, and Latin America has completed this journey with unique regional features. Since the first ligation of a patent arterial duct by Enrique Finochietto in 1941 in Buenos Aires, the development of congenital heart surgery was deeply influenced by funding restrictions and scarcity of technology. However, the determined work of cardiovascular surgery pioneers as Hugo Filipozzi, Euriclides Zerbini, and Adib Jatene in Brazil; Helmut Jaeger in Chile; Hugo Baz and Clemente Robles in Mexico; Alberto Bejarano in Colombia; and Mario Brea and Fernando Tricerri in Argentina made cardiac surgery with cardiopulmonary bypass available by the late 1950s. In the following five decades new generations of cardiovascular surgeons received the legacy of these outstanding leaders and made several important contributions to the field in tetralogy of Fallot, transposition of the great arteries, tricuspid atresia, single ventricle, truncus arteriosus, heart transplantation, and many others. Many centers in Latin America routinely perform congenital heart disease surgery with excellent results, covering the entire spectrum from the newborn to the adult congenital heart patient. The most important challenge that remains is to provide access to care to all children with congenital heart disease in Latin America, since currently only 42% of them receive surgical treatment.

  13. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

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

  14. [Prune belly syndrome with atresia ani and urethral stricture: a case report].

    PubMed

    Megumi, Y; Horii, Y; Matsuda, T; Arai, Y; Takeuchi, H; Yoshida, O

    1994-09-01

    A case of prune belly syndrome associated with urethral stricture and atresia ani is reported. Cystostomy and colostomy were performed on his birthday. Cutaneous vesicostomy, bilateral ureterocystoneoplasty and proctoplasty were performed when the patient was one year old, and urethrotomy was performed when he was four years old. He was closely followed for six years and six months, and had developed without any serious episodes. We collected 128 cases of prune belly syndrome from the Japanese literature including this, and made a brief discussion of this syndrome with urethral stricture and atresia ani.

  15. [Nasal breath recovery and rhinoplasty in cleft lip and palate patient with unilateral choanal atresia].

    PubMed

    Chkadua, T Z; Ivanova, M D; Daminov, R O; Brusova, L A; Savvateeva, D M

    2016-01-01

    The paper presents the analysis of clinical case of endoscopic nasal breath restoration and elimination of the secondary cleft lip nasal deformity in 27 years old patient with unilateral choanal atresia and secondary nasal deformity after rhinocheiloplasty. Preoperative examination revealed the absence of nasal breathing on collateral side due to complete bone choanal atresia. Surgical treatment included endoscopic choanal repair, elimination of the secondary nasal deformity, septoplasty, conchotomy and lateroposition of the inferior conchae. The treatment resulted in nasal breath restoration and elimination of nasal deformity. Long-term follow-up at 1 and 12 months post-operatively proved stable positive aesthetic and functional results.

  16. Impact of fetal counseling on outcome of antenatal congenital surgical anomalies.

    PubMed

    Sharma, Shilpa; Bhanot, Ranjana; Deka, Dipika; Bajpai, Minu; Gupta, Devendra K

    2017-02-01

    To analyze the impact of counseling on antenatal congenital surgical anomalies (ACSA). Cases presenting with ACSA for fetal counseling and those presenting in post-natal period following diagnosis of ACSA (PACSA) for surgical opinion were analyzed for spectrum, presentation and outcome. 117 cases including ACSA(68);PACSA(49) were analyzed. Gestational age at diagnosis of ACSA;PACSA was 17-37;17-39 weeks (median 24;32 weeks). Diagnoses in ACSA;PACSA included urological (26;31), neurological (10;5), congenital diaphragmatic hernia (CDH)(5;1), gastrointestinal (5;5), lung and chest anomalies (5;1), intraabdominal cysts (4;1), abdominal wall defects (4;0), tumors (3;3), limb anomaly (1;1), esophageal atresia (1;1), conjoint twins (1;0), hepatomegaly (1;0), and major cardiac anomalies (2;0). Two antenatal interventions were done for ACSA; vesicoamniotic shunt and amnioinfusion for oligohydramnios. 17;24 ACSA;PACSA required early surgical intervention in post-natal period. Nine ACSA underwent medical termination of pregnancy and 4 had intrauterine demise. Nine ACSA babies died including two CDH, one gastroschisis, one duodenal atresia, one conjoint twins, one megacystitis with motility disorder and three posterior urethral valves. All PACSA babies survived. Fetal counseling for CSA portrays true outcome of ACSA with 32.3% (22/68) mortality versus 0% for PACSA due to selection bias. However, fetal counseling ensures optimal perinatal care.

  17. Laparoscopic duodenoduodenostomy with parallel anastomosis for duodenal atresia.

    PubMed

    Oh, Chaeyoun; Lee, Sanghoon; Lee, Suk-Koo; Seo, Jeong-Meen

    2017-06-01

    Currently, a diamond-shaped anastomosis is preferred for the surgical repair of duodenal atresia (DA) in both open and laparoscopic surgery. We report the results of laparoscopic duodenoduodenostomy with parallel anastomosis (LDPA) in DA. We retrospectively reviewed 22 patients who underwent laparoscopic duodenoduodenostomy from February 2005 to May 2015 in Samsung Medical Center. All patients underwent operation within the first month after birth. Patients who were transversely anastomosed after duodenotomy and patients who underwent simultaneous operation on combined anomalies were excluded. Parallel anastomosis was used in all surgeries. Four trocars were used in laparoscopic repair. After mobilization of both proximal and distal ends, the proximal end was incised transversely and the distal end was incised longitudinally. Duodenoduodenostomy with parallel anastomosis using a 5-0 glyconate monofilament was performed with interrupted sutures. Eleven patients (50 %) were male. Median gestational age was 36 + 6 weeks (32 + 7-40 + 6). Median age at the time of operation and median body weight were 3 days (1-12) and 2.53 kg (1.63-3.18), respectively. All patients were diagnosed prenatally and 16 patients (72.7 %) had associated anomalies. Median operation time was 142 min (96-290) and median postoperative day to start oral feeding was 5 days (3-9) and median postoperative day of reaching full feeding was 11 days (6-19). Median postoperative day was 13 days (10-60). There was no anastomotic leakage or stenosis. Median follow up was 3.5 months (1-21). Currently, there is no late complication. LDPA can be performed easily to patients who have DA in neonatal period. It is anatomically natural and the risk of leakage or stenosis does not seem significant. Therefore, parallel anastomosis should be considered as a safe procedural option for laparoscopic duodenoduodenostomy in DA.

  18. Classification of Esophageal Strictures following Esophageal Atresia Repair.

    PubMed

    Macchini, Francesco; Parente, Giovanni; Morandi, Anna; Farris, Giorgio; Gentilino, Valerio; Leva, Ernesto

    2017-03-06

    Introduction The aim of this study was to stratify anastomotic strictures (AS) following esophageal atresia (EA) repair and to establish predictors for the need of dilations. Material and Methods A retrospective study on children operated on for EA between 2004 and 2014 was conducted. The stricture index (SI) was measured both radiologically (SIXR) and endoscopically (SIEND). A correlation analysis between the SI and the number of dilations was performed using Spearman's test and linear regression analysis. Results In this study, 40 patients were included: 35 (87.5%) presented with Gross's type C EA, 3 (7.5%) type A, 1 (2.5%) type B, and 1 (2.5%) type D. The mean follow-up time was 101 ± 71.1 months (range: 7.8-232.5, median: 97.6). The mean SIXR was 0.56 ± 0.16 (range: 0.15-0.86). The mean SIEND was 0.45 ± 0.22 (range: 0.15-0.85). Twenty-four patients (60%) underwent a mean of 2 endoscopic dilations (range: 1-9). The number of dilations was poorly correlated with SIXR, while significantly correlated with SIEND. Patients who did not need dilations had a SIEND < 0.33, patients who needed only one dilation had 0.33 ≤ SIEND < 0.44, and those with SIEND ≥ 0.44 needed two or more dilations. No significant association with other clinical variables was found. All patients were asymptomatic at the time of the first endoscopy. Conclusion SIEND is a useful tool to classify AS and can represent a predictor of the need for endoscopic dilation. The role of the SIEND becomes even more important as clinical characteristics have a low predictive value for the development of an AS and the need for subsequent endoscopic esophageal dilatations.

  19. Design and validation of a diagnostic score for biliary atresia.

    PubMed

    El-Guindi, Mohamed Abdel-Salam; Sira, Mostafa Mohamed; Sira, Ahmad Mohamed; Salem, Tahany Abdel-Hameed; El-Abd, Osama Lotfy; Konsowa, Hatem Abdel-Sattar; El-Azab, Dina Shehata; Allam, Alif Abdel-Hakim

    2014-07-01

    The dilemma of early diagnosis of biliary Atresia (BA), particularly distinguishing it from other causes of neonatal cholestasis is challenging. The aim was to design and validate a scoring system for early discrimination of BA from other causes of neonatal cholestasis. A twelve-point scoring system was proposed according to clinical, laboratory, ultrasonographic, and histopathological parameters. A total of 135 patients with neonatal cholestasis in two sets were recruited to design (n=60) and validate (n=75) a scoring system. Parameters with significant statistical difference between BA (n=30) and non-BA (n=30) patients in the design set were analyzed by logistic regression to predict the presence or absence of BA then a scoring system was designed and validated. The total score ranged from 0 to 37.18 and a cut-off value of >23.927 could discriminate BA from other causes of neonatal cholestasis with sensitivity and specificity of 100% each. By applying this score in the validation set, the accuracy was 98.83% in predicting BA. The diagnosis of BA was proposed correctly in 100% and the diagnosis of non-BA was proposed correctly in 97.67% of patients. By applying this model, unnecessary intraoperative cholangiography would be avoided in non-BA patients. This scoring system accurately separates infants with BA and those with non-BA, rendering intraoperative cholangiography for confirming or excluding BA unnecessary in a substantial proportion of patients. Copyright © 2014 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

  20. Persistent left superior vena cava in cardiac congenital surgery.

    PubMed

    Giuliani-Poncini, Cristina; Perez, Marie-Hélène; Cotting, Jacques; Hurni, Michel; Sekarski, Nicole; Pfammatter, Jean-Pierre; Di Bernardo, Stefano

    2014-01-01

    Persistent left superior vena cava (LSVC) is a relatively frequent finding in congenital cardiac malformation. The scope of the study was to analyze the timing of diagnosis of persistent LSVC, the timing of diagnosis of associated anomalies of the coronary sinus, and the global impact on morbidity and mortality of persistent LSVC in children with congenital heart disease after cardiac surgery. Retrospective analysis of a cohort of children after cardiac surgery on bypass for congenital heart disease. Three hundred seventy-one patients were included in the study, and their median age was 2.75 years (IQR 0.65-6.63). Forty-seven children had persistent LSVC (12.7 %), and persistent LSVC was identified on echocardiography before surgery in 39 patients (83 %). In three patients (6.4 %) with persistent LSVC, significant inflow obstruction of the left ventricle developed after surgery leading to low output syndrome or secondary pulmonary hypertension. In eight patients (17 %), persistent LSVC was associated with a partially or completely unroofed coronary sinus and in two cases (4 %) with coronary sinus ostial atresia. Duration of mechanical ventilation was significantly shorter in the control group (1.2 vs. 3.0 days, p = 0.04), whereas length of stay in intensive care did not differ. Mortality was also significantly lower in the control group (2.5 vs. 10.6 %, p = 0.004). The results of study show that persistent LSVC in association with congenital cardiac malformation increases the risk of mortality in children with cardiac surgery on cardiopulmonary bypass. Recognition of a persistent LSVC and its associated anomalies is mandatory to avoid complications during or after cardiac surgery.

  1. The association of congenital tracheobronchial stenosis and cardiovascular anomalies.

    PubMed

    Chao, Yen-Chun; Peng, Chun-Chin; Lee, Kuo-Sheng; Lin, Shan-Miao; Chen, Ming-Ren

    2016-04-01

    Congenital tracheobronchial stenosis (CTBS) is a rare disorder characterized by the presence of focal or diffuse complete tracheal or bronchial cartilage rings resulting in a fixed lumen narrowing. The aim of this study was to expose the association of various cardiovascular (CV) anomalies with various types of CTBS. A retrospective review of 58 patients who had bronchoscopically proven CTBS between 1997 and 2011 was conducted. Totally, 48 cases who had received echocardiography, computed tomography and other examinations including cardiac catheterization were enrolled. There were 33 boys and 15 girls, and the median age of diagnosis was 4 months (0-44 months). The image findings of associated CV anomalies were reviewed and analyzed, along with the clinical manifestations and patients' outcome. There were 14 generalized hypoplasia (29.2%), 10 funnel type (20.8%), 15 segmental type (31.3%), and 9 isolated bronchial stenosis cases (18.7%). Among 48 cases of CTBS, 32 patients (66.7%) had various CV anomalies including atrial septal defect (n=9), pulmonary artery sling (n=7), ventricular septal defect (n=7), patent ductus arteriosus (n=6), tetralogy of Fallot (n=3), peripheral pulmonary stenosis (n=3), etc. No significant difference existed in the incidence and types of comorbid CV anomalies among 4 types of CTBS, except that funnel type had significantly higher comorbidity of pulmonary artery sling (50%, p<0.01). Patients with CTBS had high incidence of various associated CV anomalies. Isolated bronchial stenosis had similar high comorbidity of CV anomalies as did the 3 classical categories of congenital tracheal stenosis. The higher comorbidity of pulmonary artery sling in patients with funnel CTBS might be related to its gradual caudal narrowing of the trachea. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  2. Bronchial Artery Aneurysm with Associated Bronchial Artery to Pulmonary Artery Fistula: Treatment by Embolization

    PubMed Central

    Hsieh, Caleb G; Le, Thomas; Fogelfeld, Keren; Kamangar, Nader

    2017-01-01

    Bronchial artery aneurysm (BAA) is a rare vascular phenomenon. This review highlights a case of a BAA that was complicated by the presence of a bronchial artery to pulmonary artery (BA-PA) fistula, consequently presenting a unique challenge to management. BAAs have a strongly reported risk of rupture resulting in life-threatening hemoptysis. Embolization has thus become routine for the management such severe cases. The management of incidentally found anomalies is less obvious, but prophylactic embolization is a generally accepted practice. In this report, we review some of the risks and benefits associated with BAA embolization with specific consideration of the challenges in cases of co-existing BA-PA fistula. PMID:28217405

  3. Congenital pulmonary airway malformation: a case report and review of the literature.

    PubMed

    McDonough, Ryan J; Niven, Alexander S; Havenstrite, Keith A

    2012-02-01

    Congenital parenchymal lung malformations have an estimated incidence at 1:25,000-1:35,000 births. We present a case of this rare congenital abnormality in a 38 year-old male, review the current literature with discussion of proposed causes, malignant potential, and management strategies. A 38-year-old white male presented with a 4-day history of chronic stable hemoptysis. Social history was notable for a 50-pack-year active smoking history and remote heavy alcohol consumption. Physical examination was normal. Chest radiograph revealed an ill defined right lower lobe infiltrate. Chest computed tomography demonstrated an irregular, thin-walled, cystic lesion with adjacent nodularity and calcifications. The patient received a right lower lobectomy. Pathologic specimen demonstrated a 10-cm, mostly thin-walled cyst with features suggestive of a congenital cyst adenomatoid malformation and areas of adenocarcinoma (mixed subtype with acinar and bronchioloalveolar patterns). Congenital cyst adenomatoid malformations have recently been renamed as congenital pulmonary airway malformations and are the most common type of congenital parenchymal lung malformations. Individuals typically present with recurrent pulmonary infections, pneumothorax, or hemoptysis. The development is controversial but believed to be a result of arrested development of the fetal bronchial tree during the sixth and seventh week of fetal development. Defects in thyroid transcription factor 1 have also been proposed. With the increasing use and image resolution of ultrasound in modern obstetric practice, congenital pulmonary airway malformations rarely go undetected into adulthood. Management remains controversial; however, most authors agree with early surgical excision.

  4. Bronchial carcinoid tumors: clinical and radiological correlation.

    PubMed

    Squerzanti, Antonella; Basteri, Vittoria; Antinolfi, Gabriele; D'agostino, Fulvio; Scutellari, Pier Nuccio; Ravenna, Franco; Ghirardi, Redenta; Cavallesco, Giorgio

    2002-10-01

    To evaluate the incidence of bronchial carcinoid tumor (BCT) in population affected by various lung tumors, retrospectively reviewed between 1986-2001, and to emphasize the radiographic patterns if they are characteristic. In the above mentioned period, chest x-ray and CT were performed in 1110 patients, both male and female, affected by lung neoplasms. 20 patients were affected by BCT (16 males, and 13 females), aged between 26 and 75 years (mean age 57.5), with histopathologic diagnosis of typical (9 cases, 31%) and atypical (20 cases, 69%) bronchial carcinoid tumors. Localized right lung lesion were as follows: 7 cases in superior, 9 in middle and 4 in inferior lobes; in the left lung, 5 cases in superior, and 4 in inferior lobes. Size of the lesions was as average 2.4 cm in diameter (with a range of 0.5-12 cm). On x-ray and CT images, BCT appeared as a well marginated nodule, of which 9 were peripheral and 20 central. BCT are classified as neuroendocrine carcinomas,and are divided in typical and atypical forms, with variable grade of malignancy. Central neoplasms are symptomatic due to bronchial obstruction (i.e., pneumonia, atelectasis, bronchiectasis, emphysema and/or lung abscess); if airway obstruction is partial, then cough, wheezing and recurrent pulmonary infections occur. Peripheral tumors are generally asymptomatic and they are discovered occasionally, when chest x-ray is made for other reasons. Radiographic features are similar in typical and atypical BCT. In central tumors a rounded well circumscribed hilar mass is noted, with lobulated or bumpy margins. Central cavitation is not referred to. Peripheral BCT appear as a solitary nodule, inferioer then 3 cm in size, marginated, surrounded by normal pulmonary tissue. Signs and symptoms of BCT are evasive and vague. No current clinical or laboratory procedures are useful in confirming the diagnosis; particularly, no imaging modalities are able to differentiate between BCT and other pulmonary tumors. For

  5. 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.

  6. Congenital patellar syndrome.

    PubMed

    Jerome, J Terrence Jose; Varghese, M; Sankaran, B

    2009-01-01

    Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old boy.

  7. Multifocal Congenital Hemangiopericytoma.

    PubMed

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

    2017-01-01

    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported.

  8. 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

  9. 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.

  10. Bronchial thermoplasty in asthma: current perspectives

    PubMed Central

    Laxmanan, Balaji; Hogarth, D Kyle

    2015-01-01

    Bronchial thermoplasty (BT) is a novel therapy for patients with severe asthma. Using radio frequency thermal energy, it aims to reduce the airway smooth muscle mass. Several clinical trials have demonstrated improvements in asthma-related quality of life and a reduction in the number of exacerbations following treatment with BT. In addition, recent data has demonstrated the long-term safety of the procedure as well as sustained improvements in rates of asthma exacerbations, reduction in health care utilization, and improved quality of life. Further study is needed to elucidate the underlying mechanisms that result in these improvements. In addition, improved characterization of the asthma subphenotypes likely to exhibit the largest clinical benefit is a critical step in determining the precise role of BT in the management of severe asthma. PMID:26028976

  11. [Bronchial mucoepidermoid carcinoma in childhood. Case report].

    PubMed

    Cuestas, Giselle; Rodríguez, Verónica; Doormann, Flavia; Bellia Munzón, Patricio; Bellia Munzón, Gastón

    2017-08-01

    Bronchial tumors are rare in children. Most of them are malignant, being the carcinoid tumor the most common. Less frequently the mucoepidermoid carcinoma is found in the tracheobronchial tree. Mucoepidermoid carcinoma accounts for 0.1 to 0.2% of all malignant bronchopulmonary tumors. It manifests with symptoms of airway obstruction and/or recurrent pneumonias. Early diagnosis and appropriate treatment are of great importance in the prognosis. Bronchoscopy with biopsy of the endobronchial mass is the method of choice to confirm the diagnosis. Treatment consists of surgical resection of the lesion. We present an 11-year-old girl with dyspnea on exertion and cough due to a low malignant mucoepidermoid arcinoma of the ronchi. We describe the clinical manifestations, the diagnostic methods and the treatment of this rare neoplasia in pediatrics. Sociedad Argentina de Pediatría.

  12. [Serum immunoglobulin E level in bronchial asthma].

    PubMed

    Denchev, K; Radkov, M; Lipcheva, N

    1976-01-01

    Serum immunoglobulin E level was determined in 50 patients with bronchial asthma, treated in the out-patients department and clinical conditions at the Faculty Hospital--Varna. The quantitative determination of immunoglobulin E was carried out by radial immunodiffusion according to Mancini with monospecific anti-IgE globulin serum from Behringswerke (GFR). A considerable elevation of immunoglobulin E in the patients' sera was found, at an average of 394 IU (control 124 IU). A discrepancy in serum immunoglobulin E level was established with the different clinical forms of asthma. The highest are the values with infectious-allergic astmha-424 IU. High are the values both in the treated and not-treated with corticosteroids, without an essential difference between the two patient groups. Some of the rest immunoglobulins showed also an elevationppIgG 2620 mg% and IgA 366 mg%.

  13. Mainstem to mainstem bronchial fistula from broncholithiasis.

    PubMed

    Wiese, Tanya A

    2012-01-01

    Broncholithiasis is a rare condition in which calcified material erodes into the tracheobronchial tree. Most are caused from a fungal, nocardial, mycobacterial, or silicosis-related granulomatous lymphadenitis. Over time, the peribronchial lymph nodes become calcified; thereafter, with the normal repetitive motions of respiration, circulation, and deglutition, the calcifications erode into the lumen of the airway. This condition can be challenging to diagnose as its symptoms can mimic many more common diseases. The most common symptoms are wheezing, chronic cough, and dyspnea; thus, it was previously referred to as "stone asthma." More devastating complications can include massive hemoptysis, recurrent pneumonias, bronchiectasis, mediastinal abscess, and fistula formations. Only airways to mediastinal, esophageal, or vascular fistulas have been reported in the literature. This is the first reported case of a patient treated with electrocautery forceps, who developed a mainstem to mainstem bronchial fistula.

  14. Treatment of bronchial asthma with tianeptine.

    PubMed

    Lechin, F; van der Dijs, B; Lechin, A E

    2004-11-01

    Although circulating catecholamines and free serotonin in the plasma (f-5-HT) were found to be increased during asthma attacks, only f-5-HT levels correlated positively with bronchoconstriction and clinical severity. Tianeptine, a drug that enhances serotonin uptake by platelets and serotonergic axons at the central nervous system (CNS), provoked an abrupt disappearance of asthma attacks. This fact explains why tianeptine has proven to be a powerful therapeutic tool in controlling asthma. Its success has been demonstrated not only in two double-blind placebo, cross-over trials, but through an open study lasting more than seven years that included over 25,000 asthmatic patients. In the present article, we discuss the peripheral and central nervous system mechanisms that may explain the therapeutic success of tianeptine. These are summarized below. F-5-HT is taken up by pulmonary endocrine cells (PNEC) located at the parasympathetic terminals. A presynaptic element, these cells release serotonin and potentiate acetylcholine (ACh)-induced contraction of bronchial muscle. This effect is mediated by 5-HT(3) and 5-HT(4) postsynaptic receptors located at the bronchial muscle. According to the above, the increased f-5-HT plasma level, triggered by both platelet aggregation and nocturnal and/or diurnal hyperparasympathetic activity, potentiates ACh-induced bronchoconstriction. The fact that serotonin released by medullary serotonergic axons stimulates the medullary vagal cardiorespiratory neurons obliges us to think that serotonin-induced CNS mechanisms are also involved. Furthermore, the finding that drugs that interfere with serotonin uptake, by both platelets and 5-HT-terminals, worsen asthma symptoms and are able to provoke asthma attacks gives additional support to the above peripheral and CNS mechanisms.

  15. [Bronchial asthma due to storage mite allergy].

    PubMed

    Kroidl, R F; Schwichtenberg, U; Frank, E

    2007-08-01

    In a multicenter study (7 participating centres) 132 patients with bronchial asthma (grade II or III) and sensitization to storage mites (SM) and/or house dust mites (HSM) were screened and asked to undergo further allergological evaluation. 90 patients agreed. In addition to routine skin prick tests and RAST, quantitative skin prick tests (QSPT) and bronchial provocation tests (BPT) were also performed with the suspected mite allergens. The results were correlated with aspects of the domestic and working environments. Furthermore we questioned whether the outcome of BPT could be predicted from the results of the routine skin tests/RAST and QSPT respectively. Out of a total of 145 BPTs there were 79 positive results with SM and/or HSM. Three patients were mono-allergic to SM. The correlation with the domestic environment was unremarkable. Correlation with occupational factors revealed a strong predominance of farmers (42 of 90) and suggested the same for professions involved in work in dust-laden environments like bakers (5 of 90) and workers in wood- and paper industry (7 of 90). This also means, that SM-allergy occurs in persons not occupationally exposed to dust. A prediction as to the allergological relevance of SM-allergen was not possible from viewing the routine skin prick test however positive RAST data showed a significant correlation with positive BPT to SM Lepidoglyphus. Similarly it was possible to draw an inference from QSPT as to the relevant allergy. With a positive QSPT to the SM Lepidoglyphus destructor a positive result with a BPT was highly probable. Due to small numbers it is not possible to make a similar statement for the other SM species (Acarus and Tyrophagus).

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

    PubMed

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

    2016-10-01

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

  17. Preferential TNFα signaling via TNFR2 regulates epithelial injury and duct obstruction in experimental biliary atresia

    PubMed Central

    Shivakumar, Pranavkumar; Mizuochi, Tatsuki; Mourya, Reena; Gutta, Sridevi; Yang, Li; Luo, Zhenhua; Bezerra, Jorge A.

    2017-01-01

    Biliary atresia is an obstructive cholangiopathy of infancy that progresses to end-stage cirrhosis. Although the pathogenesis of the disease is not completely understood, previous reports link TNFα to apoptosis of the bile duct epithelium in the presence of IFNγ. Here, we investigate if TNFα signaling regulates pathogenic mechanisms of biliary atresia. First, we quantified the expression of TNFA and its receptors TNFR1 and TNFR2 in human livers and found an increased expression of the receptors at the time of diagnosis. In mechanistic experiments using a neonatal mouse model of rhesus rotavirus–induced (RRV-induced) biliary atresia, the expression of the ligand and both receptors increased 6- to 8-fold in hepatic DCs and NK lymphocytes above controls. The activation of tissue NK cells by RRV-primed DCs was independent of TNFα-TNFR signaling. Once activated, the expression of TNFα by NK cells induced lysis of 55% ± 2% of bile duct epithelial cells, which was completely prevented by blocking TNFα or TNFR2, but not TNFR1. More notably, antibody-mediated or genetic disruption of TNFα-TNFR2 signaling in vivo decreased apoptosis and epithelial injury; suppressed the infiltration of livers by T cells, DCs, and NK cells; prevented extrahepatic bile duct obstruction; and promoted long-term survival. These findings point to a key role for the TNFα/TNFR2 axis on pathogenesis of experimental biliary atresia and identify new therapeutic targets to suppress the disease phenotype. PMID:28289704

  18. Transcatheter pulmonary valve perforation and balloon dilatation in neonates with pulmonary atresia and intact ventricular septum

    PubMed Central

    Gerestein, C.G.; Berger, R.M.F.; Dalinghaus, M.; Bogers, A.J.J.C.; Witsenburg, M.

    2003-01-01

    Background Pulmonary atresia and intact ventricular septum is characterised by a great morphological variety. Treatment is not uniform. Objective To evaluate our experience with transcatheter valvotomy and balloon dilatation in neonates with pulmonary atresia and intact ventricular septum. Design Retrospective. Methods Between January 1997 and September 2000 five neonates with pulmonary atresia and intact ventricular septum underwent transcatheter valvotomy and balloon dilatation. Results The catheter intervention was performed at a mean age of 27 days (range 3-95 days). The atretic pulmonary valve was successfully perforated in all neonates. Subsequent balloon dilatation was successful in four neonates. Balloon dilatation was unsuccessful in one patient, who underwent an elective surgical valvotomy of the pulmonary valve after five days. Three patients needed a modified Blalock-Taussig shunt after a mean of 23 days. Four patients required repeated balloon dilatation after a mean of 227 days. Mean follow-up was 2.7 years (range 1-5 years). Conclusions Transcatheter perforation of the pulmonary valve membrane and balloon dilatation is a good, safe initial therapy in selected neonates with pulmonary atresia and intact ventricular septum. This procedure can prevent open-heart surgery in these patients in the first months of life. ImagesFigure 1Figure 2 PMID:25696158

  19. Percutaneous laser valvotomy with balloon dilatation of the pulmonary valve as primary treatment for pulmonary atresia.

    PubMed

    Parsons, J M; Rees, M R; Gibbs, J L

    1991-07-01

    A neonate with pulmonary atresia and an intact ventricular septum with a tripartite right ventricle was successfully treated by percutaneous balloon dilatation of the pulmonary valve. This was facilitated by previous laser valvotomy with a hot tip Trimedyne laser wire. There were no major complications. Four weeks later the patient was discharged home on no medication with peripheral oxygen saturations of 70% in air.

  20. Follicular growth and atresia in mammalian ovaries: regulation by survival and death of granulosa cells.

    PubMed

    Matsuda, Fuko; Inoue, Naoko; Manabe, Noboru; Ohkura, Satoshi

    2012-01-01

    The mammalian ovary is an extremely dynamic organ in which a large majority of follicles are effectively eliminated throughout their reproductive life. Due to the numerous efforts of researchers, mechanisms regulating follicular growth and atresia in mammalian ovaries have been clarified, not only their systemic regulation by hormones (gonadotropins) but also their intraovarian regulation by gonadal steroids, growth factors, cytokines and intracellular proteins. Granulosa cells in particular have been demonstrated to play a major role in deciding the fate of follicles, serving molecules that are essential for follicular growth and maintenance as well as killing themselves by an apoptotic process that results in follicular atresia. In this review, we discuss the factors that govern follicular growth and atresia, with a special focus on their regulation by granulosa cells. First, ovarian folliculogenesis in adult life is outlined. Then, we explain about the regulation of follicular growth and atresia by granulosa cells, in which hormones, growth factors and cytokines, death ligand-receptor system and B cell lymphoma/leukemia 2 (BCL2) family members (mitochondria-mediated apoptosis) are further discussed.

  1. 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

  2. MicroRNAs: New Insight in Modulating Follicular Atresia: A Review.

    PubMed

    Worku, Tesfaye; Rehman, Zia Ur; Talpur, Hira Sajjad; Bhattarai, Dinesh; Ullah, Farman; Malobi, Ngabu; Kebede, Tesfaye; Yang, Liguo

    2017-02-09

    Our understanding of the post-transcriptional mechanisms involved in follicular atresia is limited; however, an important development has been made in understanding the biological regulatory networks responsible for mediating follicular atresia. MicroRNAs have come to be seen as a key regulatory actor in determining cell fate in a wide range of tissues in normal and pathological processes. Profiling studies of miRNAs during follicular atresia and development have identified several putative miRNAs enriched in apoptosis signaling pathways. Subsequent in vitro and/or in vivo studies of granulosa cells have elucidated the functional role of some miRNAs along with their molecular pathways. In particular, the regulatory roles of some miRNAs have been consistently observed during studies of follicular cellular apoptosis. Continued work should gradually lead to better understanding of the role of miRNAs in this field. Ultimately, we expect this understanding will have substantial benefits for fertility management at both the in vivo or/and in vitro levels. The stable nature of miRNA holds remarkable promise in clinical use as a diagnostic tool and in reproductive medicine to solve the ever-increasing fertility problem. In this review, we summarize current knowledge of the involvement of miRNAs in follicular atresia, discuss the challenges for further work and pinpoint areas for future research.

  3. MicroRNAs: New Insight in Modulating Follicular Atresia: A Review

    PubMed Central

    Worku, Tesfaye; Rehman, Zia Ur; Talpur, Hira Sajjad; Bhattarai, Dinesh; Ullah, Farman; Malobi, Ngabu; Kebede, Tesfaye; Yang, Liguo

    2017-01-01

    Our understanding of the post-transcriptional mechanisms involved in follicular atresia is limited; however, an important development has been made in understanding the biological regulatory networks responsible for mediating follicular atresia. MicroRNAs have come to be seen as a key regulatory actor in determining cell fate in a wide range of tissues in normal and pathological processes. Profiling studies of miRNAs during follicular atresia and development have identified several putative miRNAs enriched in apoptosis signaling pathways. Subsequent in vitro and/or in vivo studies of granulosa cells have elucidated the functional role of some miRNAs along with their molecular pathways. In particular, the regulatory roles of some miRNAs have been consistently observed during studies of follicular cellular apoptosis. Continued work should gradually lead to better understanding of the role of miRNAs in this field. Ultimately, we expect this understanding will have substantial benefits for fertility management at both the in vivo or/and in vitro levels. The stable nature of miRNA holds remarkable promise in clinical use as a diagnostic tool and in reproductive medicine to solve the ever-increasing fertility problem. In this review, we summarize current knowledge of the involvement of miRNAs in follicular atresia, discuss the challenges for further work and pinpoint areas for future research. PMID:28208755

  4. Pyloric stenosis in a patient with pure esophageal atresia: A difficult diagnosis

    PubMed Central

    Chattopadhyay, Anindya

    2014-01-01

    Hypertrophic pyloric stenosis is brought to attention by its characteristic non-bilious vomiting. In a patient with pure esophageal atresia and a feeding gastrostomy, the symptoms were modified and the diagnosis was delayed. This case report highlights the clinical features of this rare combination, whose diagnosis was easily established once the entity was considered. PMID:24741218

  5. 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.

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

    PubMed Central

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

    2016-01-01

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

  7. Extra Hepatic Biliary Atresia Associated with Choledochal Cyst: A Diagnostic Dilemma in Neonatal Obstructive Jaundice

    PubMed Central

    Sinha, Shalini

    2013-01-01

    The presentation of extra hepatic biliary-atresia (EHBA) as well as choledochal cyst (CDC) in the neonate may be similar. Since the surgical management and prognosis are entirely different, it is important to differentiate between the two entities. We present a case with co-existing EHBA and CDC which led to a diagnostic dilemma. PMID:26023431

  8. 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

  9. Measurement of Gastric Circumference in Foetuses with Oesophageal Atresia.

    PubMed

    Hoopmann, M; Kagan, K O; Borgmeier, F; Seitz, G; Arand, J; Wagner, P

    2015-11-01

    Background: The specific recognition of oesophageal atresia (OA) with or without a tracheal fistula in a foetus is a diagnostic challenge for prenatal medicine. The aim of the present work is to analyse the value of the measurement of gastric size in the diagnosis of this significant malformation. Materials and Methods: Altogether, the examinations of 433 pregnancies between the 18.4 and 39.1 weeks of gestation were retrospectively analysed. 59 of these foetuses exhibited an OA. By means of a linear regression analysis with normal foetuses, significant parameters influencing gastric size were examined. Subsequently the gastric sizes were transformed into z values and a comparison was made between OA with and without fistulae with the help of t tests. Results: In the normal foetuses there was a significant association between the gastric circumference and the abdominal circumference (circumference = 6.809 + 0.179 × abdominal circumference, r = 0.686, p < 0.0001). In the normal group the average was 43.0 (standard deviation [SD] 13.7) mm and those in foetuses with and without fistuale were 33.8 (SD 22.7) and 0.9 (SD 3.7) mm. In 34 (57.6 %) foetuses with an OA, the gastric circumference was below the 5th percentile. In detail, there were 13 (34.2 %) foetuses with a fistula and 21 (100 %) without a fistula. The average z values in the normal group and in the groups of OA with fistula and without fistula amounted to 0.0 (SD 1.0), -1.3 (SD 2.2) and -4.5 (SD 1.0). Conclusion: Measurements of the gastric circumference below the 5th percentile should lead to further diagnostic measures, especially when associated with polyhydramnios. Although OA without a fistula is always conspicuous, only about one in three OAs with fistula are associated with a significantly smaller stomach.

  10. Measurement of Gastric Circumference in Foetuses with Oesophageal Atresia

    PubMed Central

    Hoopmann, M.; Kagan, K. O.; Borgmeier, F.; Seitz, G.; Arand, J.; Wagner, P.

    2015-01-01

    Background: The specific recognition of oesophageal atresia (OA) with or without a tracheal fistula in a foetus is a diagnostic challenge for prenatal medicine. The aim of the present work is to analyse the value of the measurement of gastric size in the diagnosis of this significant malformation. Materials and Methods: Altogether, the examinations of 433 pregnancies between the 18.4 and 39.1 weeks of gestation were retrospectively analysed. 59 of these foetuses exhibited an OA. By means of a linear regression analysis with normal foetuses, significant parameters influencing gastric size were examined. Subsequently the gastric sizes were transformed into z values and a comparison was made between OA with and without fistulae with the help of t tests. Results: In the normal foetuses there was a significant association between the gastric circumference and the abdominal circumference (circumference = 6.809 + 0.179 × abdominal circumference, r = 0.686, p < 0.0001). In the normal group the average was 43.0 (standard deviation [SD] 13.7) mm and those in foetuses with and without fistuale were 33.8 (SD 22.7) and 0.9 (SD 3.7) mm. In 34 (57.6 %) foetuses with an OA, the gastric circumference was below the 5th percentile. In detail, there were 13 (34.2 %) foetuses with a fistula and 21 (100 %) without a fistula. The average z values in the normal group and in the groups of OA with fistula and without fistula amounted to 0.0 (SD 1.0), −1.3 (SD 2.2) and −4.5 (SD 1.0). Conclusion: Measurements of the gastric circumference below the 5th percentile should lead to further diagnostic measures, especially when associated with polyhydramnios. Although OA without a fistula is always conspicuous, only about one in three OAs with fistula are associated with a significantly smaller stomach. PMID:26719598

  11. Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

    PubMed

    Izumi, Kosuke; Lippa, Andrew M; Wilkens, Alisha; Feret, Holly A; McDonald-McGinn, Donna M; Zackai, Elaine H

    2013-12-01

    Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of GJA1 during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with GJA1 mutations presenting with cardiac malformations and type III syndactyly. Patient 1 presented with pulmonary atresia, an intact septum, right ventricular hypoplasia and tricuspid stenosis. The infant had a small nose, thin columella and bilateral 4-5 syndactyly of the fingers. A de novo c.226C>T (p.Arg76Cys) mutation was identified. Patient 2 presented at 6 months with a ventricular septal defect. The child had hypoplastic alae nasi with a thin columella and bilateral 4-5 syndactyly of the digits. A de novo missense mutation, c.145C>G (p.Gln49Glu) was found. Our two patients underscore the importance of cardiac evaluations as part of the initial workup for patients with findings of oculodentodigital dysplasia. Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations. © 2013 Wiley Periodicals, Inc.

  12. Persistent right umbilical vein associated with complex congenital cardiac malformation.

    PubMed

    Hoehn, Thomas; Lueder, Michael; Schmidt, Klaus G; Schaper, Joerg; Mayatepek, Ertan

    2006-04-01

    Umbilical venous catheterization is frequently used for vascular access during neonatal resuscitation. The differentiation between umbilical artery and vein, specifically during the resuscitation procedure, is clinically neither always easy nor unambiguous. A preterm infant of 35 weeks of gestational age was born after an uneventful course of his mother's pregnancy. Severe postnatal cyanosis led to the placement of presumed arterial and venous umbilical catheters. Chest x-ray was suggestive of the presence of a persistent right umbilical vein (PRUV). Echocardiography showed a double outlet right ventricle with mitral atresia and a levo-atrial cardinal vein draining the left atrium into the azygos vein. The foramen ovale was firmly closed and conventional balloon atrioseptostomy failed. Several attempts of transseptal puncture and subsequent creation of an atrial septal defect were unsuccessful and the infant eventually died. There is an association of PRUV and congenital cardiac malformation. PRUV can be diagnosed prenatally if specifically looked for. The presence of PRUV can be the only clue prenatally alerting to the presence of congenital heart disease. Postnatal diagnosis of PRUV may justify echocardiography and cardiologic assessment even in the absence of clinical cyanosis.

  13. Congenital anomalies associated with hypothyroidism.

    PubMed Central

    Bamforth, J S; Hughes, I; Lazarus, J; John, R

    1986-01-01

    Seven of the 34 infants identified through the Welsh Hypothyroid Screening Programme have additional congenital abnormalities. Two infants have a previously undescribed syndrome, two have chromosomal abnormalities, two have congenital heart disease, and one has a myelomeningocoele. Congenital hypothyroidism often seems to be associated with other congenital abnormalities. PMID:3729532

  14. Disparity in access and outcomes for emergency neonatal surgery: intestinal atresia in Kampala, Uganda.

    PubMed

    Cairo, Sarah; Kakembo, Nasser; Kisa, Phyllis; Muzira, Arlene; Cheung, Maija; Healy, James; Ozgediz, Doruk; Sekabira, John

    2017-08-01

    Intestinal atresia is one of the leading causes of neonatal intestinal obstruction (NIO). The purpose of this study was to analyze the presentation and outcome of IA and compare with those from both similar and high-income country settings. A retrospective review of prospectively collected data from patient charts and pediatric surgical database for 2012-2015 was performed. Epidemiological data and patient characteristics were analyzed and outcomes were compared with those reported in other LMICs and high-income countries (HICs). Unmet need was calculated along with economic valuation or economic burden of surgical disease. Of 98 patients, 42.9% were male. 35 patients had duodenal atresia (DA), 60 had jejunio-ileal atresia (JIA), and 3 had colonic atresia. The mean age at presentation was 7.14 days for DA and 6.7 days for JIA. Average weight for DA and JIA was 2.2 and 2.12 kg, respectively. All patients with DA and colonic atresia underwent surgery, and 88.3% of patients with JIA had surgery. Overall mortality was 43% with the majority of deaths attributable to aspiration, anastomotic leak, and sepsis. 3304 DALYs were calculated as met compared to 25,577 DALYs' unmet. Patients with IA in Uganda present late in the clinical course with high morbidity and mortality attributable to a combination of late presentation, poor nutrition status, surgical complications, and likely underreporting of associated anomalies rather than surgical morbidity alone. Level IV, Case series with no comparison group.

  15. Management of hearing loss and the normal ear in cases of unilateral Microtia with aural atresia.

    PubMed

    Billings, Kathleen R; Qureshi, Hannan; Gouveia, Christopher; Ittner, Colleen; Hoff, Stephen R

    2016-06-01

    To identify the rate of hearing loss related to middle ear disease and the frequency of tympanostomy tube (TT) insertion in the contralateral ear of patients with unilateral microtia/aural atresia. Retrospective case series of patients less than 3 years of age with unilateral microtia/aural atresia treated at an urban, tertiary care children's hospital from 2008 to 2013. Clinical and audiologic data were reviewed. Statistical analysis was performed to determine the relative risk of TT insertion in the normal ear. A total of 72 patients were included for analysis. The average age of patients at their initial otolaryngology visit was 3.3 months (range 0.08-1.67 years); 38 (52.8%) patients were males. Aural atresia involved the right ear in 43 (59.7%) cases. Five (6.9%) patients were syndromic. Abnormal audiometric testing of the normal ear was noted in 12 (16.7%), and 14 (19.4%) underwent TT during the first 3 years of life. Twelve children (85.7%) who had a TT placed were nonsyndromic. When compared to published norms for TT placement in the general population (6.8% of children < 3 year of age), a greater proportion of children with unilateral microtia/aural atresia had TT placement in the normal ear (z = 4.26, P < 0.0001). Patients with unilateral microtia/aural atresia have increased rates of hearing loss and middle ear effusion leading to TT in their normal ear at a higher rate versus the general population. This information can help guide more vigilant care and audiologic follow-up in affected children. 4. Laryngoscope, 126:1470-1474, 2016. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

  16. Genetics of congenital hypothyroidism

    PubMed Central

    Park, S; Chatterjee, V

    2005-01-01

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

  17. Giant congenital melanocytic nevus.

    PubMed

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

    2013-01-01

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

  18. Giant congenital melanocytic nevus*

    PubMed Central

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

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion. PMID:24474093

  19. [Optimal therapy of children with bronchial asthma at Pyatigorsk spa].

    PubMed

    Sokolova, M Iu; Ivanova, N A; Shabalov, N P

    2007-01-01

    The study of efficacy of bronchial asthma children's rehabilitation at Pyatigorsk spa with different schemes of treatment has shown that combined treatment with dry air-radon baths and halotherapy is more effective than each of these modalities alone.

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

    PubMed

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

    2016-06-01

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

  1. [State of higher nervous activity in women with bronchial asthma].

    PubMed

    Zinchenko, T M

    2001-01-01

    A total of 103 women were examined with bronchial asthma, who demonstrated disturbances in the intrapsychic adaptation presenting as hystero-hypochondriacal and anxious alterations in the personality pattern with formation of a certain modus of thinking and behavior. Differences have been ascertained in the personality profile of patients with varying clinicopathogenetic forms of bronchial astma in those groups of patients differing in age, degree of severity of the condition duration of the analysis.

  2. Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.

    PubMed

    Bjørsum-Meyer, Thomas; Herlin, Morten; Qvist, Niels; Petersen, Michael B

    2016-12-21

    The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome. Our first case was a white girl delivered by caesarean section at 37 weeks of gestation; our second case was a white girl born at a gestational age of 40 weeks. A co-occurrence of vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed in both cases. We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane library. We added two cases from our local center. All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five of nine cases and in two cases ovarian involvement also existed. The co-occurrence of the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal

  3. [The measurement of bronchial hyperreactivity for military service fitness].

    PubMed

    Ferrante, E; Grasso, S; Corbo, G M; Ciappi, G

    1991-10-01

    The authors discuss the efficacy of methacholine challenge to discriminate fit subjects to military service. We evaluated the relation between bronchial hyperreactivity and clinical symptoms, airways caliber and atopic status in a group of italian conscripts who reported to have bronchial asthma. Five-hundred-four subjects were studied. Bronchial hyperreactivity was measured by methacholine test, and atopic status was assessed by skin-tests. A measurable PC20 FEV1 was detected in 424 subjects. On the basis of the methacholine threshold concentration the overall sample was divided in four categories. The four categories differed as regards onset of disease, lung function and skin reactivity towards Dermatophagoides Pter, whereas no difference was found as regards skin reactivity towards Grass. In the group evaluated in spring, the four categories differed as regards skin reactivity towards Grass. In conclusion we found that bronchial hyperreactivity is related to clinical history, lung function and atopic status; the measurement of bronchial hyperreactivity is important to evaluate conscripts referring bronchial asthma.

  4. Bronchial and extrabronchial factors in chronic airflow obstruction

    PubMed Central

    Leaver, D. G.; Tattersfield, A. E.; Pride, N. B.

    1974-01-01

    Leaver, D. G., Tattersfield, A. E., and Pride, N. B. (1974).Thorax, 29, 394-400. Bronchial and extrabronchial factors in chronic airflow obstruction. Chronic airflow obstruction may be due either to disease of the airway wall and lumen or to loss of airway-distending forces acting on the outer wall of the bronchus. In 17 patients with chronic airflow obstruction the relative importance of bronchial and extrabronchial factors was assessed by analysing the relation between airways conductance and static transpulmonary pressure over a range of lung volumes. Using previously established clinical, radiological, and functional criteria (which did not include measurements of the mechanical properties of the lungs), six of these patients had evidence of widespread emphysema and six patients had predominant `bronchial' disease. In four of the six `emphysematous' patients there was no functional evidence of disease of the bronchial wall or lumen during quiet breathing, and airway narrowing could be explained by loss of airway-distending forces. The six patients with characteristic `bronchial' features showed functional evidence of disease of the bronchial wall or lumen. Images PMID:4850829

  5. Surveillance of congenital malformations in infants conceived through assisted reproductive technology or other fertility treatments.

    PubMed

    Heisey, Angela S; Bell, Erin M; Herdt-Losavio, Michele L; Druschel, Charlotte

    2015-02-01

    As assisted reproductive technology (ART) becomes more common, it is important to understand the associated risks. The objective of this study was to determine if congenital malformations are associated with ART or other fertility treatments in New York. In a retrospective cohort study of all live births in upstate New York from 1997 to 2005, exposure was defined using ART or other fertility treatments as noted on birth certificates. Outcomes were assessed from the New York State Congenital Malformations Registry. Specific malformations were examined to determine if there is elevated risk for exposed singleton infants compared with infants conceived naturally. The study included 7120 in the ART group, 11,890 in the other fertility treatments group and 1,118,162 in the comparison group. The relative risk for a congenital malformation was 1.43 (95% CI 1.19-1.72) for singleton infants conceived through ART compared with singleton infants conceived naturally. The specific defects associated with ART were patent ductus arteriosus, hypospadias, and obstructive defect in the renal pelvis and ureter, while spina bifida, other specific anomalies of the spinal cord, atresia or stenosis of the pulmonary valve, hypospadias, and obstructive defects of the renal pelvis and ureter were associated with other fertility treatment. Assisted reproductive technology is associated with a slight excess risk of birth defects. The specific congenital malformations with elevated risks for singleton infants vary depending on the exposure. Further research is necessary to understand the mechanism related to the increase in risk. © 2015 Wiley Periodicals, Inc.

  6. Congenital complete heart block.

    PubMed Central

    Agarwala, B.; Sheikh, Z.; Cibils, L. A.

    1996-01-01

    Congenital complete heart block in utero has become diagnosed more frequently with the clinical use of fetal echocardiography. The fetus with complete heart block may remain asymptomatic or may develop congestive heart failure. Congenital complete heart block is more frequently seen in infants of mothers with systemic lupus erythematosus, both clinically manifested and subclinical systemic lupus erythematosus with positive antibodies (SS-A and SS-B antibodies). At birth, the neonate with complete heart block may remain asymptomatic and may not require a pacemaker to increase the heart rate. The indications for a pacemaker in neonates with complete heart block have been discussed. Both in-utero and neonatal management of congenital complete heart block are discussed to manage congestive heart failure in a fetus. Four patients with congenital complete heart block are presented covering a broad spectrum of clinical presentation, diagnosis, and management both in the fetal and neonatal period. Images Figure 1 PMID:8961692

  7. 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 ...

  8. Giant congenital nevus

    MedlinePlus

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

  9. Congenital Heart Information Network

    MedlinePlus

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

  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. Intestinal synthesis and secretion of bile salts as an adaptation to developmental biliary atresia in the sea lamprey

    PubMed Central

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

    2012-01-01

    Bile salt synthesis is a specialized liver function in vertebrates. Bile salts play diverse roles in digestion and signaling, and their homeostasis is maintained by controlling input (biosynthesis) and intestinal conservation. Patients with biliary atresia (i.e., obliteration of the biliary tree) suffer liver fibrosis and cirrhosis. In contrast, sea lamprey thrives despite developmental biliary atresia. We discovered that the sea lamprey adapts to biliary atresia through a unique mechanism of de novo synthesis and secretion of bile salts in intestine after developmental biliary atresia, in addition to known mechanisms, such as the reduction of bile salt synthesis in liver. During and after developmental biliary atresia, expression of cyp7a1 in intestine increased by more than 100-fold (P < 0.001), whereas in liver it decreased by the same magnitude (P < 0.001). Concurrently, bile salt pools changed in similar patterns and magnitudes in these two organs and the composition shifted from C24 bile alcohol sulfates to taurine-conjugated C24 bile acids. In addition, both in vivo and ex vivo experiments showed that aductular sea lamprey secreted taurocholic acid into its intestinal lumen. Our results indicate that the sea lamprey, a jawless vertebrate, may be in an evolutionarily transitional state where bile salt synthesis occurs in both liver and intestine. Understanding the molecular basis of these mechanisms may shed light on the evolution of bile salt synthesis and possible therapy for infant biliary atresia. PMID:22733776

  12. A rare case of multiple bronchial artery aneurysms associated with a double aortic arch

    PubMed Central

    Mahmood, Rameysh Danovani; Chen, Zhi Yong; Low, Teck Boon; Ng, Keng Sin

    2015-01-01

    Bronchial artery aneurysm is uncommon, and the occurrence of multiple aneurysms arising from a bronchial artery is even rarer. To date, there has been only one published case report describing double bronchial artery aneurysms. We herein describe a case of three aneurysms arising from a left bronchial artery, accompanied by multiple bilateral hypertrophied bronchial and intercostobronchial arteries, as well as a double aortic arch. Bronchial artery aneurysm is potentially life-threatening, and immediate treatment is recommended to minimise the potential risk of rupture. The aneurysms in our case were successfully treated via transcatheter arterial embolisation using coils. PMID:25820859

  13. [Effects of high altitude on bronchial asthma].

    PubMed

    Schultze-Werninghaus, G

    2008-03-01

    Sojourns in the high mountains have been recommended to patients with asthma for many decades. It is the aim of this contribution to summarise the published studies about the effects of a stay at > 1500 m above sea level on asthmatic patients. These data from 428 adolescent and adult patients indicate an improvement of asthma symptoms and lung function during sojourns at high altitude. In many patients a reduction of the steroid therapy was achievable. Profound changes in the immune system have been demonstrated at high altitude, with a reduction of B- and T-helper cell activation. Total and mite-specific immunoglobulin E antibodies decrease significantly during longer sojourns. These changes are associated with a reduction of airway inflammation (e. g., reduction of eosinophil activation, NO exhalation and bronchial hyper-responsiveness). The fact that also patients with non-allergic asthma demonstrate a reduction of their airway inflammation at high altitude suggests that the high altitude climate has beneficial effects on asthma beyond the effects of allergen avoidance. High UV exposure and low humidity could be important additional factors, to explain the reductions in asthma severity in the high mountain climate. Larger controlled studies should be performed to prove the positive effects of the high altitude climate on asthma.

  14. Delphi project in bronchial asthma. Two stages.

    PubMed

    Fernández-Benítez, M; Ibero Iborra, M; Sanz Ortega, J; Garde Garde, J

    2010-01-01

    From the paediatric point of view, we have undertaken two Delphi studies into bronchial asthma. The first is related to the consensus known as the consensus document of the five associations. The second is more recent and has been undertaken with GEMA (the Spanish Guidelines on the Management of Asthma). The aim of this paper is to carry out a descriptive study comparing the 2 Delphi processes and to objectively assess if in some way behaviour over the past two years has changed as far as expert opinion is concerned. In the consensus document those points giving rise to most controversy were the treatment of children under three years of age and treatment with immunotherapy in allergic asthma. It is also necessary to highlight how important it was at that particular point in time to define the phenotypes of wheezing and the predictive index of asthma in children of less than 3 years of age. Of the 52 questions in the questionnaire, in 13.6% the panel of experts reached no consensus in their positions. Following GEMA the Delphi methodology, 56 questions were asked in the first round of the questionnaire, and consensus was reached in 87.5%. As regards the paediatric part relating to diagnosis and treatment in children, agreement was reached on all the questions in the first round. Agreement was reached in 8.92% questions in the second round. Clinical guidelines and consensus documents can modify behaviour towards an illness, both in the diagnosis and treatment.

  15. [Bronchial carcinoid tumor: study of 60 patients].

    PubMed

    Madrid-Carbajal, Claudia; García-Clemente, Marta; Pando-Sandoval, Ana; Cubillas Martín, Hugo; González-Budiño, Teresa; Casan-Clarà, Pere

    2013-07-21

    To describe the casuistry of bronchial carcinoid tumor in the last 20 years in our hospital and determine survival after surgical treatment. We retrospectively reviewed the medical records from January 1992 to June 2012 of patients diagnosed with carcinoid tumor by the pulmonary service. Fifty-two patients (87%) had typical carcinoid and 8 (13%) atypical carcinoid. The mean age at diagnosis was 60 years (SD: 14.4). There was no relationship between consumption of tobacco and carcinoid tumor. Twenty-two per cent were asymptomatic radiographic finding (incidental finding) Three patients showed carcinoid syndrome and one patient had Cushing syndrome. There was a right dominance and the mean lesion size was between 2.1 and 5 cm. Nine per cent had lymph node involvement, predominantly in atypical carcinoid. Overall survival at 3.5 and 10 years was 94%, 86% and 82%. Survival at 5 years was 90% for typical and 86% for atypical and survival at 10 years was 85% for typical and 57% for atypical carcinoids. Carcinoid tumors are malignant tumors by their ability to metastasize. In our study, both histological type and staging were predictors of survival. Copyright © 2012 Elsevier España, S.L. All rights reserved.

  16. Effect of acupuncture on bronchial asthma.

    PubMed

    Yu, D Y; Lee, S P

    1976-11-01

    1. Needle acupuncture was performed at three sites in twenty patients in a clinical attack of bronchial asthma. 2. In all patients the symptoms of bronchoconstriction improved during the attacks when the correct site was stimulated, and in five patients wheezing was abolished. 3. Stimulation at the correct site produced a significant increase in the mean FEV1-0 (58%) and FVC (29%) but not in maximal mid-expiratory flow rate (MMFR; 76%), when compared with the findings before acupuncture, along with a significant fall in the Pa,CO2 and an insignificant fall in Pa,O2. A mild tachycardia was also observed. 4. After acupuncture a greater improvement in FEV1-0, FVC and MMFR was produced by inhalation of isoprenaline. 5. No significant changes in FEV1-0, FVC, MMFR, pulse rate or arterial blood gas tensions occurred after acupuncture at control sites. 6. In four of the patients during clinical remission acupuncture was performed before and after histamine aerosol challenge, but there was no effect on either the severity or the duration of the histamine-induced bronchoconstriction. 7. It is concluded that acupunture probably reduced the reflex component of the bronchoconstriction, but failed to influence direct smooth muscle constriction caused by histamine.

  17. Association of pre-eclampsia with or without superimposed chronic hypertension in pregnant women with the risk of congenital abnormalities in their offspring: a population-based case-control study.

    PubMed

    Bánhidy, Ferenc; Szilasi, Maria; Czeizel, Andrew E

    2012-07-01

    To investigate the association of pre-eclampsia (PE) or PE with superimposed chronic hypertension (PE+SCH) in pregnant women with the risk of various structural birth defects (i.e. congenital abnormalities) in their offspring. A population-based case-control study using the Hungarian Case-Control Surveillance of Congenital Abnormalities data set (1980-1996), including 22,843 cases with congenital abnormalities and 38,151 matched controls without any congenital abnormalities. The incidence of PE and PE+SCH was compared in women who had offspring with congenital abnormalities (cases) and women who had offspring without any congenital abnormalities (controls). The incidence of PE was examined in 585 cases and 1017 controls, and the incidence of PE+SCH was examined in 154 cases and 269 controls. None of the 25 studied types of congenital abnormality was found to be more likely among the offspring of women with PE. However, the risks of renal dysgenesis [odds ratio (OR) 4.7, 95% confidence interval (CI) 1.7-12.8], esophageal atresia/stenosis (OR 4.6, 95% CI 1.8-12.2) and rectal/anal stenosis (OR 3.7, 95% CI 1.6-8.5) were higher in the offspring of pregnant women with PE+SCH. PE in pregnant women was not associated with a higher risk of any congenital abnormalities in their offspring, but PE+SCH was associated with a higher risk of renal dysgenesis, esophageal atresia/stenosis and rectal/anal stenosis. These findings need confirmation in other studies. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  18. Esophageal atresia and transitional care--step 1: a systematic review and meta-analysis of the literature to define the prevalence of chronic long-term problems.

    PubMed

    Connor, Martin J; Springford, Laurie R; Kapetanakis, Venediktos V; Giuliani, Stefano

    2015-04-01

    Esophageal atresia (EA) is a rare congenital anomaly with high infantile survival rates. The aim of this study was to outline the prevalence of common long-term problems associated with EA repair in patients older than 10 years of age. Original papers were identified by systematic searching of MEDLINE and EMBASE databases from January 1993 to July 2014. Fifteen articles (907 EA patients) met inclusion criteria. This is the first systematic review aiming to quantify the prevalence of the long-term problems associated with EA. The main active medical conditions (pooled estimated prevalence) identified were the following: dysphagia (50.3%), gastroesophageal reflux disease with (40.2%) or without (56.5%) histological esophagitis, recurrent respiratory tract infections (24.1%), doctor-diagnosed asthma (22.3%), persistent cough (14.6%), and wheeze (34.7%). The prevalence of Barrett's esophagus (6.4%) was 4 and 26 times higher than the adult (1.6%) and pediatric (.25%) general populations. Adult and pediatric practitioners should focus on how to develop effective long-term follow-up and transitional care for these patients. Copyright © 2015 Elsevier Inc. All rights reserved.

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

    PubMed Central

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

    1976-01-01

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

  20. Surgical Correction of Congenital Heart Disease in the Adult: Experience with 139 Patients

    PubMed Central

    Leidenfrost, Ronald D.; Weldon, Clarence S.

    1978-01-01

    Patients over 18 years of age who have undergone a surgical correction of a congenital cardiac malformation during the period 1968 through 1977 have been reviewed. Those patients with calcific aortic stenosis which was thought, but not proved, to have arisen in a congenitally malformed aortic valve, were excluded from the review. Patients with cystic medial necrosis of the aorta were similarly excluded. There were 139 patients in the series (age range from 18 years to 67 years). The most common defects were those involving the intra-atrial septum and the related great veins, 50%. Abnormalities involving the great arteries including patent ductus arteriosus and coarctation of the aorta accounted for 19%. Common defects of conal development including ventricular septal defects and Tetralogy of Fallot malformations accounted for 15%. Valvular abnormalities including pulmonic stenosis, aortic valve abnormalities and Ebstein's malformation of tricuspid valve accounted for 11.5%. Complex congenital malformations were relatively uncommon, 4%. There were two patients with a combination of acquired and congenital heart disease. There were two operative deaths in the series, both occurring in patients with complex forms of congenital heart disease (multiple ventricular septal defects, double outlet right ventricle). There were two additional postoperative hospital deaths, one occurring following repair of an atrial septal defect from massive pulmonary embolus, and another occurring six weeks following a Fontan procedure performed for tricuspid atresia. Thus, the hospital mortality for the series was 2.9%. This reviewed series reveals the incidence of operable congenital heart defects appearing in an adult cardiac surgical practice and demonstrates that surgical repair can be accomplished with a satisfactory low mortality rate. PMID:697429

  1. Congenital symmastia revisited.

    PubMed

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans E; Bonde, Christian

    2012-12-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient. Congenital symmastia was identified as a distinct deformation using a review of the literature and a theoretical model. We analysed the malady using a three-step principle, formulated by Blondeel, which describes the breast as a 'footprint', 'conus' and 'skin-envelope'. To date, few papers on congenital symmastia have been published, most of which focus on the application of various surgical approaches. We examined the literature and evaluated the procedures used, and are presenting two recent cases of congenital symmastia as examples. By combining review and analysis we offer a rational treatment practice. The analysis showed that the optimal treatment begins by correcting the 'footprint', removing the excess 'conus' over the sternum, and finally reattaching the 'skin-envelope' to the sternum to recreate the normal medial border of the 'footprint'. Thus far, the two most common approaches used to treat congenital symmastia are: reduction mammaplasty and liposuction. By combining the Blondeel analysis with a procedural review, we developed a flow chart to offer a possible treatment practice. Copyright © 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  2. Determining bronchial morphology for the purposes of segregating so-called heterotaxy.

    PubMed

    Loomba, Rohit S; Pelech, Andrew N; Shah, Parinda H; Anderson, Robert H

    2016-04-01

    Introduction Heterotaxy is a unique clinical entity in which lateralisation of the thoraco-abdominal organs is abnormal, typically with isomerism of the bronchial tree and atrial appendages. This study was carried out to determine whether routine clinical imaging such as chest radiographs, angiographic images, and CT/MRI can determine bronchial isomerism, and how sidedness of bronchial isomerism correlates with overall features anticipated in hearts with isomeric atrial appendages. Methods and results We identified 73 patients with heterotaxy, in whom imaging clearly demonstrated the bronchial tree, seen at our institution since 1998. We calculated bronchial angles and lengths using all the available imaging modalities to determine the presence and sidedness of bronchial isomerism. This was then compared with the anticipated presence of isomeric atrial appendages based on the overall clinical findings, as the appendages themselves had not specifically been imaged. The ratio of bronchial lengths revealed bronchial isomerism in all patients, with bronchial angles permitting distinction of right as opposed to left isomerism. We noted discordances between the identified bronchial isomerism and the presumed arrangement of the atrial appendages in nearly 20% of the patients in our cohort. Routine clinical imaging with chest radiographs, angiographic imaging, and CT/MRI can determine the presence of bronchial isomerism in patients with so-called heterotaxy. Right as opposed to left isomerism can be distinguished based on bronchial angles. The finding of bronchial isomerism correlates well, but not totally, with the presumed isomerism of the atrial appendages as predicted from the identified intra-cardiac morphology.

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

    PubMed

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

    2016-06-01

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

  4. BAER testing in a dog with bilateral external ear canal atresia.

    PubMed

    Anwer, Cona; Schwarz, Tobias; Volk, Susan W; Vite, Charles

    2011-01-01

    A 3 yr old male castrated Labrador retriever presented for evaluation and treatment of bilateral atresia of the external ear canals. The owners reported that the dog could hear only loud and high-pitched noises. Computed tomography of the head revealed intact vertical and horizontal ear canals filled with debris and a debris-filled right tympanic bulla. Air- and bone-conducted brainstem auditory evoked response (BAER) testing revealed an elevated response threshold to air-conducted stimuli and greater amplitude waveforms evoked by bone-conducted stimuli. The ear canals were surgically corrected via lateral ear canal resection. BAER testing postoperatively revealed a decrease in the air-conducted BAER threshold. This case is an example of the use of bone-conducted BAER testing to aid in the diagnosis of conductive deafness, and in determining prognosis for normal hearing after surgical treatment of external ear canal atresia.

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

    SciTech Connect

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

    1990-12-01

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

  6. Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management.

    PubMed

    Pandya, Kartikey A; Koga, Hiroyuki; Okawada, Manabu; Coran, Arnold G; Yamataka, Atsuyuki; Teitelbaum, Daniel H

    2015-03-01

    The association of vaginal atresia (or Mayer-Rokitansky-Kuster-Hauser Syndrome) with imperforate anus is rare and can present significant diagnostic and therapeutic challenges. This study describes clinical characteristics, surgical treatment and outcomes in this group of complex children. Records of 20 patients were retrospectively analyzed from two pediatric surgical centers. Five patients were excluded from the long-term analysis due to inadequate information, leaving long-term follow-up in 15 patients. Mean follow-up was 10 years (range 1-31.1 years). The diagnosis of vaginal atresia was made pre-operatively in 12 out of 15 patients, and in three patients it was identified during the anoplasty. The anorectal malformations were rectoperineal (N=2), rectovestibular (N=6), recto-bladder neck (N=1) and imperforate anus without fistula (N=6). Satisfactory surgical repair was performed in 13 patients, while one continues to stool through a low perineal fistula awaiting definitive surgery and another underwent a colostomy and mucous fistula. Delayed vaginal reconstruction was due to a failure to identify the problem prior to anoplasty (N=3). Long-term results demonstrated that anorectal continence was much worse than initially appreciated, and many had associated urinary incontinence. Overall stooling score was far lower than in a separate group of children with imperforate anus without vaginal atresia (Levitt and Peña, 2007). Vaginal atresia with imperforate anus is a rare and an extensive pre-operative workup of females with imperforate anus must include assessment of vagina patency. Vaginal reconstruction and anorectal continuity can be performed in a variety of approaches, but long-term continence is often not optimal. We propose a pathway for management of this difficult genito-anorectal disorder. Copyright © 2015 Elsevier Inc. All rights reserved.

  7. Thoracoscopic treatment of esophageal atresia with distal fistula and of tracheomalacia.

    PubMed

    van der Zee, David C; Bax, Klaas N M A

    2007-11-01

    Single center experience with thoracoscopic repair of esophageal atresia with distal fistula and of tracheomalacia. Between May 2000 and December 2006, 51 neonates with an esophageal atresia were presented for thoracoscopic repair. Gestational age varied from 31 3/7 to 42 2/7 weeks (M = 37 2/7). Birth weight was between 1025 g and 4030 g (mean 2620 g). Concomitant anomalies or VACTERL association were encoutered in 31 patients (61%). Duration of the operation was from 90 minutes to 390 minutes (mean 178 minutes). All but 1 patient had an esophageal atresia with a distal fistula. Six patients had tracheomalacia requiring aortopexia, which was performed thoracoscopically. In 2 patients the thoracoscopic procedure had to be converted to a thoracotomy. All other patients underwent a successful thoracoscopic repair. One patient died in the postoperative period because of sepsis. A total of 22 patients (45%) developed a stenosis in the postoperative follow up (1 month-7y 7 month) requiring 1 to 18 dilatations (mean 1.5). Postoperative leakage occurred in 9 patients (18%). Recurrent fistula was encountered in 2 patients. A total of 11 patients (22%) underwent a laparoscopic antireflux procedure for either recurring stenosis (8) or ALTES (3). Six children (12%) underwent thoracoscopic aortopexy for tracheomalacia. In 2 children symptoms recurred for which a successful repeat thoracoscopic aortopexy was undertaken. The thoracoscopic approach to the treatment of esophageal atresia and tracheomalacia is becoming increasingly accepted. The cosmesis is undoubtedly better. The secundary effects like thoracic cage deformities, winged scapula, or scoliosis have not yet been described and are expected to be reduced in comparison to the open technique. Sequelae like leakage, stenosis, recurrent fistulae, and GERD and ALTES will probably remain the same. Whether thoracoscopic dissection has less detrimental effect on disturbed motility remains to be proven. Thoracoscopic aortopexy

  8. Percutaneous laser valvotomy with balloon dilatation of the pulmonary valve as primary treatment for pulmonary atresia.

    PubMed Central

    Parsons, J M; Rees, M R; Gibbs, J L

    1991-01-01

    A neonate with pulmonary atresia and an intact ventricular septum with a tripartite right ventricle was successfully treated by percutaneous balloon dilatation of the pulmonary valve. This was facilitated by previous laser valvotomy with a hot tip Trimedyne laser wire. There were no major complications. Four weeks later the patient was discharged home on no medication with peripheral oxygen saturations of 70% in air. Images PMID:1854575

  9. Destruction of the germinal disc region of an immature preovulatory chicken follicle induces atresia and apoptosis.

    PubMed

    Yao, H H; Volentine, K K; Bahr, J M

    1998-09-01

    The germinal disc region (GDR), which contains the germinal disc and overlying granulosa cells, is essential for completion of maturation of the preovulatory chicken follicle. The current study was conducted to test the hypothesis that destruction of the GDR (GDRX) of an immature preovulatory chicken follicle blocks ovulation, induces apoptosis, and causes atresia. The GDR of immature preovulatory follicles (F2) were destroyed by freezing with dry ice (3 mm in diameter) 48-50 h before ovulation. As a control for the effect of freezing, a nonGDR portion (a portion of the follicular wall opposite to the GDR relative to the follicular stalk) of other F2 follicles were destroyed (nonGDRX). Treatment of F2 follicles by GDRX caused atresia and blocked ovulation of all treated follicles (6 of 6), whereas none of the nonGDRX follicles (0 of 5) underwent atresia. Treatment of follicles by GDRX induced apoptotic DNA fragmentation (laddering) in theca and granulosa layers obtained from the frozen area and in the theca layer obtained from the follicular wall distal to the frozen area. In contrast, apoptosis was only present in theca and granulosa layers in the frozen area of the nonGDRX follicle. Furthermore, the in situ DNA end-labeling technique demonstrated that in the GDRX follicle 24 h after treatment, cells in the theca interna, endothelial cells in blood vessels of the theca externa, and a few granulosa cells underwent apoptosis. These results indicate that destruction of the GDR of an immature preovulatory follicle causes atresia and apoptosis and blocks ovulation. These novel findings suggest that the GDR maintains development of the chicken preovulatory follicle by producing one or more survival factors. Without the GDR, chicken follicles cannot develop further and they eventually die.

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

    PubMed Central

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

    2016-01-01

    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, 100 μM) for 48 and 96 h. Every 24 h, 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

  11. Matrilysin (MMP-7) is a major matrix metalloproteinase upregulated in biliary atresia-associated liver fibrosis.

    PubMed

    Huang, Chao-Cheng; Chuang, Jiin-Haur; Chou, Ming-Huei; Wu, Chia-Lin; Chen, Ching-Mei; Wang, Chih-Chi; Chen, Yaw-Sen; Chen, Chao-Long; Tai, Ming-Hong

    2005-07-01

    Matrix metalloproteinases (MMPs) are the proteases responsible for tissue remodeling during liver fibrosis caused by various disorders including biliary atresia. However, information regarding the relative contribution of these proteases to liver fibrosis is still limited. We studied matrix metalloproteinase-2 (MMP-2), -7, -9 and -13 mRNA expressions in the liver tissue of early-stage biliary atresia at the time of Kasai's procedure, late-stage biliary atresia at the time of liver transplantation with advanced fibrosis and nondiseased control without liver fibrosis. The results of real-time quantitative reverse transcriptase-PCR analysis revealed that only MMP-2 and -7 expressions were significantly different between groups. MMP-2 was significantly higher in Liver Transplantation group than both in Control (P=0.010) and in Kasai's Procedure (P=0.001) groups, whereas the difference of MMP-2 expression between Control and Kasai's Procedure was not significant. However, the relative expression level of MMP-7 was sequentially elevated when comparing Control, Kasai's Procedure and Liver Transplantation groups, and there was significant (P=0.019) difference when comparing Control and Liver Transplantation groups. Moreover, the fold difference in MMP-7 mRNA was much higher than that in MMP-2 mRNA between groups. The expressions of MMP-7 were further confirmed by agarose gel electrophoresis and Western blotting. Immunohistochemical analysis revealed a significant positive correlation of the scores of MMP-7 immunostaining with the stages of liver fibrosis. In situ hybridization demonstrated that the bile ductular epithelial cells, Kupffer cells and hepatocytes were the major producers of matrix metalloproteinase-7 in the liver. Our results imply that MMP-7 is a major MMP associated with the tissue remodeling during the progression of liver fibrosis in biliary atresia.

  12. Thoracic skeletal anomalies following surgical treatment of esophageal atresia. Lessons from a national cohort.

    PubMed

    Bastard, François; Bonnard, Arnaud; Rousseau, Véronique; Gelas, Thomas; Michaud, Laurent; Irtan, Sabine; Piolat, Christian; Ranke-Chrétien, Aline; Becmeur, François; Dariel, Anne; Lamireau, Thierry; Petit, Thierry; Fouquet, Virginie; Le Mandat, Aurélie; Lefebvre, Francis; Allal, Hossein; Borgnon, Josephine; Boubnova, Julia; Habonimana, Edouard; Panait, Nicoleta; Buisson, Philippe; Margaryan, Marc; Michel, Jean-Luc; Gaudin, Jean; Lardy, Hubert; Auber, Frédéric; Borderon, Corinne; De Vries, Philine; Jaby, Olivier; Fourcade, Laurent; Lecompte, Jean François; Tolg, Cécilia; Delorme, Benoit; Schmitt, Françoise; Podevin, Guillaume

    2017-07-21

    Thoracotomy as surgical approach for esophageal atresia treatment entails the risk of deformation of the rib cage and consequently secondary thoracogenic scoliosis. The aim of our study was to assess these thoracic wall anomalies on a large national cohort and search for factors influencing this morbidity. Pediatric surgery departments from our national network were asked to send recent thoracic X-ray and operative reports for patients born between 2008 and 2010 with esophageal atresia. The X-rays were read in a double-blind manner to detect costal and vertebral anomalies. Among 322 inclusions from 32 centers, 110 (34.2%) X-rays were normal and 25 (7.7%) displayed thoracic malformations, including 14 hemivertebrae. We found 187 (58.1%) sequelae of surgery, including 85 costal hypoplasia, 47 other types of costal anomalies, 46 intercostal space anomalies, 21 costal fusions and 12 scoliosis, with some patients suffering from several lesions. The rate of patients with these sequelae was not influenced by age at intervention, weight at birth, type of atresia, number of thoracotomy or size of the center. The rate of sequelae was higher following a classical thoracotomy (59.1%), whatever the way that thoracotomy was performed, compared to nonconverted thoracoscopy (22.2%; p=0.04). About 60 % of the patients suffered from a thoracic wall morbidity caused by the thoracotomy performed as part of surgical treatment of esophageal atresia. Minimally invasive techniques reduced thoracic wall morbidity. Further studies should be carried out to assess the potential benefit of minimally invasive approaches to patient pulmonary functions and on the occurrence of thoracogenic scoliosis in adulthood. Level III retrospective comparative treatment study. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Congenital malaria in China.

    PubMed

    Tao, Zhi-Yong; Fang, Qiang; Liu, Xue; Culleton, Richard; Tao, Li; Xia, Hui; Gao, Qi

    2014-03-01

    Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%), reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients were cured with antimalarial drugs such as chloroquine

  14. Congenital Malaria in China

    PubMed Central

    Liu, Xue; Culleton, Richard; Tao, Li; Xia, Hui; Gao, Qi

    2014-01-01

    Abstract Background Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum–endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax–endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. Methods/Principal Findings Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%), reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients were cured

  15. 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.

  16. A Tutorial on Implantable Hearing Amplification Options for Adults with Unilateral Microtia and Atresia

    PubMed Central

    Yu, Joannie Ka Yin; Wong, Lena Lai Nar; Tsang, Willis Sung Shan; Tong, Michael Chi Fai

    2014-01-01

    Background. Patients with unilateral atresia and microtia encounter problems in sound localization and speech understanding in noise. Although there are four implantable hearing devices available, there is little discussion and evidence on the application of these devices on patients with unilateral atresia and microtia problems. Objective. This paper will review the details of these four implantable hearing devices for the treatment of unilateral atresia. They are percuteaneous osseointegrated bone anchored hearing aid, Vibrant Soundbridge middle ear implant, Bonebridge bone conduction system, and Carina fully implantable hearing device. Methods. Four implantable hearing devices were reviewed and compared. The clinical decision process that led to the recommendation of a device was illustrated by using a case study. Conclusions. The selection of appropriate implantable hearing devices should be based on various factors, including radiological findings and patient preferences, possible surgical complications, whether the device is Food and Drug Administration- (FDA-)/CE-approved, and the finances. To ensure the accurate evaluation of candidacy and outcomes, the evaluation methods should be adapted to suite the type of hearing device. PMID:24991564

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

    PubMed

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

    2015-11-01

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

  18. [Self-rated efficacy in bilateral aural atresia patients using bone-anchored hearing aid].

    PubMed

    Yue, Fan; Yibei, Wang; Zhen, Wang; Pu, Wang; Xiaowei, Chen

    2015-03-01

    Using questionnaires to evaluate the audiological benefit and satisfaction of bilateral aural atresia patients with bone-anchored hearing aid (Baha). Implanted Baha user questionnaire was applied to 19 patients suffering bilateral aural atresia, and 15 of the patients were evaluated with abbreviated profile of hearing aid benefit (APHAB). Glasgow children's benefit inventory (GCBI) was used to measure subjective benefit of patients under the age of 18. The Baha user questionnaire demonstrated great satisfaction. The mean Baha scores for the subdomains of ease of communication (EC), backgroud noise (BN) and revereration (RV) were decreased by 54.6 ± 10.2 (t = 20.6, P < 0.05), 46.9 ± 11.1 (t = 16.4, P < 0.05) and 58.8 ±15.4 (t = 21.4, P < 0.05) compared to the unaided scores. For the subdomain of aversiveness (AV), the Baha score was 56.7 ± 9.9 (t = 10.8, P < 0.05) higher than the unaided score. The general benefit score GCBI was 41.1 ± 13.0. Baha can significantly improve hearing ability and quality of life of patients with bilateral aural atresia.

  19. Neonatal gastric outlet obstruction by isolated pyloric atresia, an often forgotten diagnosis.

    PubMed

    Mboyo, Antoine; Clermidi, Pauline; Podevin, Guillaume; Patkowski, Dariusz; Baglaj, Maciej; Gerus, Sylwester; Lalioui, Abdelfetah; Napoli-Cocci, Stéphan de; Robert, Michel

    2016-04-01

    Pyloric atresia (PA) is a rare condition, and may be misdiagnosed and especially confused for duodenal atresia pre-operatively. We looked for clues to avoiding pre-operative misdiagnosis and hence allow the best neonatal medical and surgical management. A retrospective case-note review was carried out of the five patients managed in four centres with the diagnosis of isolated PA. We focused on antenatal ultrasound findings, postnatal clinical and radiological features, operative findings, surgical procedures and outcomes. Four patients had polyhydramnios and one double bubble sign on antenatal ultrasound. After birth, non-bilious vomiting and upper abdominal distension were the main symptoms. Gastric decompression showed non-bilious gastric fluid. Radiological findings were a large gastric air bubble with no gas beyond in all cases. The diagnosis of duodenal atresia was postulated at first in all cases. The diagnosis of PA was established peroperatively. One patient referred late, died 13-day post-operatively of cardiopulmonary failure secondary to a severe pneumonia that may be related to aspiration syndrome. Outcomes were otherwise satisfactory. Even though it is a rare diagnosis, PA has a specific clinical and radiological presentation underlined here that should be kept in mind when managing a neonate with a gastric outlet obstruction.

  20. Decisional Conflict in Parents Considering Bone-Anchored Hearing Devices in Children With Unilateral Aural Atresia.

    PubMed

    Graham, M Elise; Haworth, Rebecca; Chorney, Jill; Bance, Manohar; Hong, Paul

    2015-12-01

    The benefits of bone-anchored hearing devices (BAHD) in children with unilateral aural atresia are controversial. We sought to determine whether there is parental decisional conflict surrounding elective placement of BAHD for this indication. Caregivers of pediatric patients with unilateral aural atresia and normal contralateral ear undergoing percutaneous BAHD consultation were enrolled. All consultations were carried out by one pediatric otolaryngologist in a consistent manner. After consultation, the participants completed a demographics form and the Decisional Conflict Scale (DCS) questionnaire. Twenty-three caregivers of 15 male (65.2%) and 8 female (34.8%) children (mean age 5.65 years) participated. The overall median DCS score was 15.63 (standard error = 4.21). Significant decisional conflict (DCS score ≥ 25) was found in 10 participants (43.5%). The median DCS score in the group choosing surgery was 5.47, and it was 23.44 in those who did not choose surgery (Mann-Whitney U = 39, Z = -1.391, P = .164). The median DCS score for mothers and fathers was 25 and 3.91, respectively. Many parents experienced significant decisional conflict when considering percutaneous BAHD surgery in children with unilateral aural atresia in our study population. Future research should explore the impact of decisional conflict on health outcomes. © The Author(s) 2015.

  1. 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

  2. Etiologic factors in long-term respiratory function abnormalities following esophageal atresia repair.

    PubMed

    LeSouëf, P N; Myers, N A; Landau, L I

    1987-10-01

    Recurrent respiratory illnesses are frequent in infants following repair of esophageal atresia and functional abnormalities of respiratory and esophageal function are often seen in older children. Recurrent aspiration is a potential cause of these respiratory abnormalities, but a relationship between abnormalities of gastrointestinal and respiratory mechanics has not been adequately investigated. We sought an association between lower esophageal sphincter (LES) incompetence, gastroesophageal reflux (GER), and respiratory function abnormalities in 18 subjects (age 12 to 21 years) following repair of esophageal atresia (Vogt type 111B). In each subject, measurements were made of spirometry, lung volumes assessed by plethysmography, esophageal manometry recorded using a constantly infused fluid-filled trilumen catheter to assess LES pressure and esophageal motility, and esophageal pH monitoring to detect GER. Subjects were grouped according to the presence or absence of a radiologically supported diagnosis of pneumonia in the first 4 years of life. Lung volumes were mildly but significantly decreased in the "pneumonia" group compared with the "nonpneumonia" group. There was no association between abnormalities of respiratory function and abnormal LES pressure or the presence of GER. These data suggest that pneumonia in esophageal atresia infants is associated with mild long-term lung damage. LES dysfunction and GER do not appear to play a major role in this process.

  3. 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

  4. Stenting of the arterial duct: a new approach to palliation for pulmonary atresia.

    PubMed Central

    Gibbs, J L; Rothman, M T; Rees, M R; Parsons, J M; Blackburn, M E; Ruiz, C E

    1992-01-01

    OBJECTIVE--To assess the possibility of maintaining ductal patency in neonates with complex pulmonary atresia by percutaneous implantation of balloon expandable stents. PATIENTS--Two duct-dependent neonates with long segment pulmonary atresia, right sided aortic arch, and left sided arterial duct. RESULTS--Stents with final diameter of 3.5 or 4 mm and initial length of 7 or 15 mm were successfully positioned in the arterial duct. Two stents were required in one child and four in the other in order to stent the entire length of the duct. After the procedures the ducts remained widely patent and arterial oxygen saturations remained above 80%. Complications of the procedures included perforation of a peripheral pulmonary artery and cardiac perforation, both caused by guide wire manipulation. Both babies died suddenly, one at five weeks, and the other at nine days after successful stenting of the duct. Both ducts were patent at necropsy; the exact cause of one death was not clearly defined, but the second seemed to be caused by pneumococcal septicaemia. CONCLUSIONS--Stenting of the arterial duct is technically feasible. It provides adequate palliation for neonates with pulmonary atresia at least in the short term and it seems to result in balanced, central perfusion of both pulmonary arteries. This preliminary report suggests that this previously untried technique may prove to be a promising and attractive alternative to neonatal aortopulmonary shunt operation. Images PMID:1372815

  5. What Are Congenital Heart Defects?

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  6. Types of Congenital Heart Defects

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  7. Environmental aspects of congenital scoliosis.

    PubMed

    Li, Zheng; Yu, Xin; Shen, Jianxiong

    2015-04-01

    Growing evidence has proved that many aspects of our lifestyle and the environment contribute to the development of congenital disease. Congenital spinal deformities are due to anomalous development of the vertebrae including failure of formation and segmentation during embryogenesis. The causes of congenital scoliosis have not been fully identified. A variety of factors are implicated in the development of vertebral abnormalities. Previous studies have demonstrated that both genetics and environmental factors are implicated in the development of vertebral abnormalities. However, no specific cause for congenital scoliosis has been identified. In our review, we focus on the environmental factors for the development of congenital scoliosis. Various maternal exposures during pregnancy including hypoxia, alcohol use, vitamin deficiency, valproic acid, boric acid, and hyperthermia have been observed to be associated with the occurrence of congenital scoliosis. This review describes the major environmental contributors of congenital scoliosis with an emphasis on treatment aspects associated with environmental disposition in congenital scoliosis.

  8. Genetics Home Reference: congenital hyperinsulinism

    MedlinePlus

    ... of infancy Great Ormond Street Hospital for Children (UK) Merck Manual Consumer Version: Hypoglycemia Orphanet: Congenital isolated ... Diseases Congenital Hyperinsulinism International The Children's Hyperinsulinism Fund (UK) GeneReviews (1 link) Familial Hyperinsulinism ClinicalTrials.gov (1 ...

  9. 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. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Leber's congenital amaurosis.

    PubMed

    Mizuno, K; Takei, Y; Sears, M L; Peterson, W S; Carr, R E; Jampol, L M

    1977-01-01

    An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. Light microscopic examination of eyes obtained from one child, a 16-month-old Japanese girl, revealed subretinal deposits corresponding to the white spots and lines in the fundus deposits. Light and electron microscopic examination of the eye showed distinctive changes in the outer retinal layers and choroid, while the inner retinal layers were nearly normal. Characteristic early lesions of congenital amaurosis appeared to be produced by deposits consisting of loose outer segments and apical processes of the pigmental epithelial cell and macrophages. Undifferentiation in the nuclei of the photoreceptor cell, the inner segment, the pigment epithelial cell, and the choriocapillaris were likely characteristics of the early changes of congenital amaurosis.

  11. Leber's congenital amaurosis.

    PubMed

    De Laey, J J

    1991-01-01

    Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age of 6 months, a variable fundus aspect and an absent or extremely pathological ERG. The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (Senior-Loken syndrome), nephronophtisis, cone-shaped epiphyses of the hand and cerebellar ataxia (Saldino-Mainzer syndrome), vermis hypoplasia, oculomotor anomalies and respiratory problems in the neonatal period (Joubert syndrome) or cardiomyopathy. It should be differentiated from other forms or chorioretinal dystrophies (juvenile retinitis pigmentosa or congenital stationary night blindness), cortical blindness or maturation delay and metabolic disorders. Children with possible congenital Leber amaurosis should not only have a thorough ophthalmological examination, but should also be seen by a paediatrician experienced in metabolic disorders.

  12. [Congenital chloride diarrhea].

    PubMed

    Contreras, Mónica; Rocca, Ana; Benedetti, Laura; Kakisu, Hisae; Delgado, Sabrina; Ruiz, José Antonio

    2005-01-01

    Congenital chloride diarrhea (CCD) is a rare hereditary disease, with a prenatal onset, secondary to a deficit in the intestinal chloride transport. In the present study, we describe the clinical characteristics of three patients with congenital watery diarrhea, two of them females, aged between 9 and 14 months at the first visit. All patients presented perinatal antecedents of polyhydramnios and prematurity, watery stools since birth and growth failure. Metabolic alkalosis, hypokalemia and hypochloremia were found. Stool ionogram with elevated doses of chloride, exceeding both sodium and potassium, confirmed the diagnosis of CCD. Substitute treatment with sodium and potassium chloride was started with good results. CCD should be considered as a differential diagnosis to congenital watery diarrhea, since early diagnosis and appropriate treatment are mandatory for the normal development of the child, avoiding severe complications such as neurological sequelae and even death.

  13. [Air distribution in the bronchial tree of human lungs].

    PubMed

    Lai, Wei; Tan, Xiaoping; Pei, Juemin

    2004-04-01

    A three-element model of lumped parameter based on the statistic data of Weible's symmetric model and on the reference anatomic figures of the bronchial tree of the lungs has been proposed using the fluid network theory. It was assumed that the upper five or seven generations of the twenty-four generations of the respiratory airway are asymmetric, while the rest are symmetric. GEAR method was used to solve the ordinary differential equations. The pressure and flow rate distributions in different positions of the lungs during normal respiration and partial bronchial obstruction were compared, respectively. This model has great significance in finding out the air distribution in the human bronchial tree under various physiological and pathological conditions.

  14. Comparison of bronchial washing, brushing and biopsy for diagnosis of pulmonary tuberculosis.

    PubMed

    Palenque, E; Amor, E; Bernaldo de Quiros, J C

    1987-04-01

    The diagnostic yields of bronchial washings, bronchial brushings and lung biopsy specimens were compared in 50 patients with positive Mycobacterium tuberculosis cultures. The number of positive results obtained with cultures of bronchial brushings was significantly higher than that with bronchial washings (p less than 0.001). The histological study of biopsy lung material improved the rate of immediate or rapid diagnosis of tuberculosis (p less than 0.001).

  15. Congenital brain infections.

    PubMed

    Arbelaez, Andres; Restrepo, Feliza; Davila, Jorge; Castillo, Mauricio

    2014-06-01

    Pediatric congenital intracranial infections are a group of different and important entities that constitute a small percentage of all pediatric infections. The causal factors and clinical presentations are different in children compared with adults. They require early recognition because delay diagnosis and initiation of treatment may have catastrophic consequences. Despite improvements in prenatal screening, vaccine safety, and antibiotics, infections of the central nervous system remain an important cause of neurological disabilities worldwide. This article reviews the most common congenital infections and their imaging findings.

  16. Congenital Toxoplasmosis: A Review.

    PubMed

    Hampton, Marissa Martinez

    2015-01-01

    Acute infection of toxoplasmosis during pregnancy is detrimental to the developing fetus. In the United States, approximately 1 in 10,000 live births are affected by congenital toxoplasmosis. Although multifactorial in etiology, maternal infection is primarily attributed to the consumption of contaminated meat or water. Infection and transmission to the fetus may result in devastating neurologic impairment. Screening methods for all pregnant women should be implemented in routine prenatal care. This article will highlight the inherent dangers of congenital toxoplasmosis, while including general care of the fetus for prevention of transmission, medical management, and long-term outcomes.

  17. 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

  18. Congenital Hemolytic Anemia.

    PubMed

    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated.

  19. Common Congenital Anomalies

    PubMed Central

    Lowry, R. B.

    1985-01-01

    Congenital anomalies account for a substantial proportion of childhood morbidity and mortality. They have become proportionately larger because of the decline of such other categories as infections or birth trauma. Approximately 3% of newborns have a serious handicapping or potentially lethal condition; in longterm studies the frequency is much higher. There is no good evidence to suggest that the rates of congenital anomalies are increasing, although this is a common perception. This article discusses diagnosis and management (especially genetic implications) of heart defects, neural tube defects, orofacial clefting, dislocated hip, clubfoot, and hypospadias. PMID:21274150

  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