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Sample records for intestinal atresia

  1. Epidemiology of small intestinal atresia in Europe

    DEFF Research Database (Denmark)

    Best, Kate E; Tennant, Peter W G; Addor, Marie-Claude

    2012-01-01

    The epidemiology of congenital small intestinal atresia (SIA) has not been well studied. This study describes the presence of additional anomalies, pregnancy outcomes, total prevalence and association with maternal age in SIA cases in Europe....

  2. Observations on the origin of congenital intestinal atresia

    African Journals Online (AJOL)

    The article by Louw and Barnard entitled 'Congenital intestinal atresia – observations on its origin' published in The Lancet in. 19951 was a landmark paper that elucidated the pathogenesis of intestinal atresia and radically altered the surgical treatment of the condition. As a result of a review of cases of intestinal atresia at.

  3. Apple-peel intestinal atresia: enteroplasty for intestinal lengthening and primary anastomosis.

    Science.gov (United States)

    Onofre, Luciano Silveira; Maranhão, Renato Frota de Albuquerque; Martins, Elaine Cristina Soares; Fachin, Camila Girardi; Martins, Jose Luiz

    2013-06-01

    Apple-peel atresia (or Type-IIIb intestinal atresia) is an unusual type of jejunoileal atresia. They present with jejunal atresia near the ligament of Treitz and a foreshortened small bowel. Many surgical options have been used, but the optimal method of repair remains unclear. We present a case of a newborn with apple-peel intestinal atresia managed by enteroplasty for intestinal lengthening and primary anastomosis. Copyright © 2013 Elsevier Inc. All rights reserved.

  4. Fetal MRI of hereditary multiple intestinal atresia with postnatal correlation

    Energy Technology Data Exchange (ETDEWEB)

    Githu, Tangayi [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Radiology of Huntsville, P.C., Huntsville, AL (United States); Merrow, Arnold C.; Lee, Jason K. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Garrison, Aaron P. [Cincinnati Children' s Hospital Medical Center, Department of Surgical Services, Division of Pediatric General and Thoracic Surgery, Cincinnati, OH (United States); Akron Children' s Hospital, Pediatric Surgery, Akron, OH (United States); Brown, Rebeccah L. [Cincinnati Children' s Hospital Medical Center, Department of Surgical Services, Division of Pediatric General and Thoracic Surgery, Cincinnati, OH (United States)

    2014-03-15

    Hereditary multiple intestinal atresia (HMIA) is an extremely uncommon cause of congenital bowel obstruction. The morbidity and mortality of this disease differ significantly from those of isolated intestinal atresias and non-hereditary forms of multiple intestinal atresia. Most notably, despite successful operative repairs of the atresias found in this disease, HMIA maintains a 100% lethality rate from continued post-operative intestinal failure and an associated severe immunodeficiency. We present a case of HMIA evaluated with fetal MRI and subsequently diagnosed by a combination of corroborative postnatal imaging with surgical exploration and pathological examination. (orig.)

  5. Fetal MRI of hereditary multiple intestinal atresia with postnatal correlation

    International Nuclear Information System (INIS)

    Githu, Tangayi; Merrow, Arnold C.; Lee, Jason K.; Garrison, Aaron P.; Brown, Rebeccah L.

    2014-01-01

    Hereditary multiple intestinal atresia (HMIA) is an extremely uncommon cause of congenital bowel obstruction. The morbidity and mortality of this disease differ significantly from those of isolated intestinal atresias and non-hereditary forms of multiple intestinal atresia. Most notably, despite successful operative repairs of the atresias found in this disease, HMIA maintains a 100% lethality rate from continued post-operative intestinal failure and an associated severe immunodeficiency. We present a case of HMIA evaluated with fetal MRI and subsequently diagnosed by a combination of corroborative postnatal imaging with surgical exploration and pathological examination. (orig.)

  6. Apple-peel atresia presenting as foetal intestinal obstruction ...

    African Journals Online (AJOL)

    Apple-peel atresia or Type 3 jejuno-ileal atresia (JIA) is an uncommon cause of foetal intestinal obstruction. Bowel obstruction in the foetus is diagnosed on the prenatal ultrasonography only in 50% cases. We report a case in which foetal intestinal obstruction was diagnosed on prenatal ultrasonography. The child showed ...

  7. Apple-peel atresia presenting as foetal intestinal obstruction

    Directory of Open Access Journals (Sweden)

    Ashok Yadavrao Kshirsagar

    2011-01-01

    Full Text Available Apple-peel atresia or Type 3 jejuno-ileal atresia (JIA is an uncommon cause of foetal intestinal obstruction. Bowel obstruction in the foetus is diagnosed on the prenatal ultrasonography only in 50% cases. We report a case in which foetal intestinal obstruction was diagnosed on prenatal ultrasonography. The child showed signs of intestinal obstruction on day one after birth, for which an exploratory laparotomy was performed. Type 3 JIA was found for which resection of atretic segments with jejuno-ascending colon anastomosis was preformed.

  8. Population-based study of esophageal and small intestinal atresia/stenosis.

    Science.gov (United States)

    Takahashi, Daijiro; Hiroma, Takehiko; Takamizawa, Shigeru; Nakamura, Tomohiko

    2014-12-01

    The aim of this study was to describe the prevalence of esophageal atresia/stenosis and small intestinal atresia/stenosis in Nagano, Japan, together with associated anomalies, prenatal diagnosis and survival. A population-based cohort study of the prevalence of esophageal atresia/stenosis and small intestinal atresia/stenosis was conducted in Nagano in January 1993-December 2011. The Mann-Whitney test, χ(2) test and Kruskal-Wallis test were used to compare variables. P atresia/stenosis and 87 cases of small intestinal atresia/stenosis (31 duodenal, 56 jejuno-ileal) were identified. Prevalences were 1.97 for esophageal atresia/stenosis and 2.23 for small intestinal atresia/stenosis (0.83 for duodenal atresia/stenosis and 1.49 for jejuno-ileal atresia/stenosis) per 10,000 births, respectively. The prevalence of esophageal atresia/stenosis increased significantly from 1993-2001 to 2002-2011 (relative risk [RR], 1.6), as did the prevalences of duodenal atresia/stenosis (RR, 2.2) and jejuno-ileal atresia/stenosis (RR, 3.1). Chromosomal anomalies, particularly trisomy 21, were seen significantly more often in association with duodenal atresia/stenosis (55%) than with esophageal atresia/stenosis (28%, P atresia/stenosis (2%, P atresia/stenosis group. The prevalence of esophageal and small intestinal atresia/stenosis increased significantly from 1993-2001 to 2002-2011. Prenatally diagnosed esophageal atresia/stenosis is associated with multiple anomalies, particularly chromosomal anomalies, compared to other small intestine atresia/stenosis. © 2014 Japan Pediatric Society.

  9. Outcomes of surgical management of intestinal atresias | Ezomike ...

    African Journals Online (AJOL)

    Causes of death were: Sepsis with disseminated intravascular coagulation (1), sepsis from anastomotic leakage (1), septic shock (1), anesthesia.related (1), undetermined (1). Two of the mortalities (40%) had re.operation for anastomotic leak. Conclusions: Short.term survival of neonates with intestinal atresias in our unit is ...

  10. Outcomes of surgical management of intestinal atresias

    African Journals Online (AJOL)

    2013-11-22

    Nov 22, 2013 ... nutrition and neonatal surgical intensive care services are the norm. Thus, outcome of management in ... Social Sciences (SPSS 15.0 version, SPSS Inc, Chicago Ill) was used for data entry and analysis. ..... Excellent long‑term outcome for survivors of apple peel atresia. J Pediatr Surg 2002;37:61‑5. 17.

  11. Role of intraluminal bowel echogenicity on prenatal ultrasounds to determine the anatomical level of intestinal atresia.

    Science.gov (United States)

    Goruppi, Ilaria; Arévalo, Silvia; Gander, Romy; Molino, José-Andres; Oria, Marc; Carreras, Elena; Peiro, José-Luis

    2017-01-01

    To evaluate the correlation between different degrees of bowel intraluminal echogenicity showed by prenatal ultrasounds and the anatomic level of intestinal atresia. We report three cases of intestinal atresia at different intestinal levels verified during the neonatal surgery with specific ultrasonographic prenatal features. Intensity of sonolucency was analyzed using the image-processing program ImageJ for quantitative measurements based on the gray-scale intensity values. A total of three cases are reported, a jejunal, an ileal and a colonic atresia. All cases showed intestinal dilatation. Both, jejunal and ileal atresia, showed two degrees of hypoechoic intestinal content, while colonic atresia showed hyperechogenic content dilated loop at prenatal ultrasound scan. We propose the use of prenatal ultrasounds echogenicity of intestinal dilated loop fluid content to help in determining the level of obstruction in bowel atresia. These are initial results, to be confirmed by a multicentric research with more cases.

  12. Gastroschisis with intestinal atresia--predictive value of antenatal diagnosis and outcome of postnatal treatment.

    Science.gov (United States)

    Ghionzoli, Marco; James, Catherine P; David, Anna L; Shah, Dimple; Tan, Aileen W C; Iskaros, Joseph; Drake, David P; Curry, Joseph I; Kiely, Edward M; Cross, Kate; Eaton, Simon; De Coppi, Paolo; Pierro, Agostino

    2012-02-01

    The purpose of this study is to evaluate (1) the predictive value of fetal bowel dilatation (FBD) for intestinal atresia in gastroschisis and (2) the postnatal management and outcome of this condition. A retrospective review of all gastroschisis cases diagnosed in our fetal medicine unit between 1992 and 2010 and treated postnatally in our center was performed. One hundred thirty cases had full postnatal data available. Intestinal atresia was found at surgery in 14 neonates (jejunum, n = 6; ileum, n = 3; ascending colon, n = 3; multiple, n = 2). Polyhydramnios and FBD were more likely in the atresia group compared with infants with no atresia (P = .0003 and P = .005, respectively). Fetal bowel dilatation had 99% negative predictive value (95% confidence interval, 0.9-0.99) and 17% positive predictive value (95% confidence interval, 0.1-0.3) for atresia. Treatment of intestinal atresia included primary anastomosis (n = 5), delayed anastomosis (n = 2), and stoma formation followed by anastomosis (n = 7). Infants with atresia had longer duration of parenteral nutrition, higher incidence of sepsis, and cholestasis compared with infants with no atresia (P = .0003). However, the presence of atresia did not increase mortality. Polyhydramnios and FBD are associated with atresia. Absence of FBD in gastroschisis excludes intestinal atresia. In our experience, atresia is associated with a longer duration of parenteral nutrition but does not influence mortality. These findings may be relevant for antenatal counseling. Copyright © 2012 Elsevier Inc. All rights reserved.

  13. Intestinal smooth muscle response to chronic obstruction : possible applications in jejunoileal atresia.

    Science.gov (United States)

    Cloutier, R

    1975-02-01

    Hyperplasia is the main change occurring in intestinal smooth muscle above a chronic obstruction and explains the functional obstruction seen in the proximal bowel of a jejunoileal atresia. With an experimental model in dogs, this hyperplasia has been shown to be reversible. However, changes are extreme in atresia, and experiments in animals with induced atresia will best evaluate various kinds of treatment.

  14. Epidemiology of small intestinal atresia in Europe: a register-based study.

    LENUS (Irish Health Repository)

    Best, Kate E

    2012-09-01

    The epidemiology of congenital small intestinal atresia (SIA) has not been well studied. This study describes the presence of additional anomalies, pregnancy outcomes, total prevalence and association with maternal age in SIA cases in Europe.

  15. Exogenous Sonic hedgehog protein does not rescue cultured intestine from atresia formation.

    Science.gov (United States)

    Reeder, Amy L; Zaremba, Krzysztof M; Liebl, Rebeca M; Kowalkowski, Anna; Nichol, Peter F

    2014-03-01

    The mechanism of intestinal atresia formation remains undefined. Atresia in fibroblast growth factor receptor 2IIIb (Fgfr2IIIb(-/-)) mutant mouse embryos is preceded by endodermal apoptosis and involution of the surrounding mesoderm. We have observed that involution of the atretic segment is preceded by the downregulation of Sonic hedgehog (SHH) in the endoderm, which is a critical organizer of the intestinal mesoderm. We hypothesized that supplementation of Fgfr2IIIb(-/-) intestinal tracts with exogenous SHH protein before atresia formation would prevent involution of the mesoderm and rescue normal intestinal development. In situ hybridization was performed on control and Fgfr2IIIb(-/-) intestinal tracts for Shh or forkhead box protein F1 (FoxF1) between embryonic (E) day 11.5 and E12.0. Control and Fgfr2IIIb(-/-) intestinal tracts were harvested at E10.5 and cultured in media supplemented with fibroblast growth factor (FGF) 10 + SHH, or FGF10 with a SHH-coated bead. In situ hybridization was performed at E12.5 for Foxf1. SHH and Foxf1 expression were downregulated during intestinal atresia formation. Media containing exogenous FGF10 + SHH did not prevent colonic atresia formation (involution). A SHH protein point source bead did induce Foxf1 expression in controls and mutants. Shh and Foxf1 expression are disrupted in atresia formation of distal colon, thereby serving as potential markers of atretic events. Application of exogenous SHH (in media supplement or as a point source bead) is sufficient to induce Foxf1 expression, but insufficient to rescue development of distal colonic mesoderm in Fgfr2IIIb(-/-) mutant embryos. Shh signal disruption is not the critical mechanism by which loss of Fgfr2IIIb function results in atresia formation. Copyright © 2014 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    Chen, Hua-dong; Jiang, Hong; Kan, Anna; Huang, Li-e; Zhong, Zhi-hai; Zhang, Zhi-chong; Liu, Jun-cheng

    2014-06-13

    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. 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. 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.

  18. Disparity in access and outcomes for emergency neonatal surgery: intestinal atresia in Kampala, Uganda.

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    Preeti Tyagi

    2016-01-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

  1. Tricuspid atresia

    Science.gov (United States)

    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 100,000 live ...

  2. [Small intestine atresia and abnormal insertion of the umbilicus in a child with fetal alcohol syndrome].

    Science.gov (United States)

    Tourtet, S; Michaud, L; Gottrand, F; Boute, O; Bonnevalle, M; Meyer, N; Turck, D

    1997-07-01

    Fetal alcohol syndrome is quite common in our region (incidence: 1/700 live births). It usually associates facial dysmorphism, intra-uterine growth retardation and mental delay. Jonathan, born to an alcoholic mother, presented a typical dysmorphy of fetal alcohol syndrome and a low inserted umbilicus. A small bowel atresia was discovered at the third day of life and operated on. Although never been previously described, this association suggests a common embryological origin between fetal alcohol syndrome, small bowel atresia, and umbilical abnormality.

  3. The Complex Surgical Management of the First Case of Severe Combined Immunodeficiency and Multiple Intestinal Atresias Surviving after the Fourth Year of Life

    OpenAIRE

    Guan?, Riccardo; Garofano, Salvatore; Teruzzi, Elisabetta; Vinardi, Simona; Carbonaro, Giulia; Cerrina, Alessia; Morra, Isabella; Montin, Davide; Mussa, Alessandro; Schleef, J?rgen

    2014-01-01

    Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastrointestinal alterations due to severe compromise of T cells and B cells. Clinically, most patients present symptoms before the age of 3 months and without intervention SCID usually results in severe infections and death by the age of 2 years. Its association with intestinal anomalies as multiple intestinal atresias (MIA) is rare and worsens the prognosis, resulting lethal. We describe the c...

  4. Morphological abnormalities in the innervation of the atretic segment of bowel in neonates with intestinal atresia.

    Science.gov (United States)

    Ramachandran, P; Vincent, P; Ganesh, S; Sridharan, S

    2007-12-01

    The aim of this study was to examine precisely the morphological abnormalities in the myenteric plexus at the atretic end of the bowel in jejunoileal atresia (JIA). Although changes in the myenteric plexus has been examined in the proximal and distal segments of bowel in JIA, a histochemical analysis of the atretic segment is lacking. Specimens from the atretic end of bowel were obtained from six neonates with JIA. Whole-mount preparations were made of the myenteric plexus, and the cholinergic and nitrergic components were studied by staining with acetylcholine esterase (Ach E) and NADPH diaphorase, respectively. Controls were obtained from two neonates undergoing small bowel resection for Meckel's diverticulum. At the blind end of bowel in type 3a atresia (5 neonates), the intensity of NADPH staining was comparable with controls. However, there was distortion of polygonal architecture of the primary and secondary plexuses at the blind end arranged in concentric fashion parallel to the circular muscle fibres. The ganglia were large and irregularly shaped and contained round neuronal cells. In the sausage shaped segment of bowel in multiple atresia, there was total loss of polygonal architecture with abnormal ganglia, and whorls of nerve fibers. Neuronal cells could not be made out in the ganglia. In specimens stained with Ach E, the findings were similar except that the staining intensity was markedly reduced compared with controls. The morphological abnormalities in the atretic bowel in type 3a were restricted to the architecture of the plexuses and ganglia. The neuronal cells were normal. However, the total loss of polygonal architecture and absence of neuronal cells in the ganglia in multiple atresia probably indicate a different etiology for this type of atresia.

  5. Does small intestinal atresia affect epithelial protein expression in human newborns?

    NARCIS (Netherlands)

    Schaart, Maaike W.; Yamanouchi, Takeshi; van Nispen, Danielle J. P. M.; Raatgeep, Rolien H. C.; van Goudoever, Johannes B.; de Krijger, Ronald R.; Tibboel, Dick; Einerhand, Alexandra W. C.; Renes, Ingrid B.

    2006-01-01

    Bowel segments distal to a congenital intestinal obstruction have been suggested to be immature. In other words, luminal components such as amniotic fluid (before birth) and/or enteral nutrition (after birth) may be required to activate intestinal epithelial protein expression, thereby influencing

  6. Congenital pyloric atresia: clinical features, diagnosis, associated ...

    African Journals Online (AJOL)

    anomalies. Epidermolysis bullosa was seen in eight (40%) patients and multiple intestinal atresias in five (25%). Three patients had associated esophageal atresia. Pyloric diaphragm was the most common and seen in 13 patients including double diaphragms in two followed by pyloric atresia with a gap in four and pyloric ...

  7. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

    Science.gov (United States)

    Chen, Rui; Giliani, Silvia; Lanzi, Gaetana; Mias, George I; Lonardi, Silvia; Dobbs, Kerry; Manis, John; Im, Hogune; Gallagher, Jennifer E; Phanstiel, Douglas H; Euskirchen, Ghia; Lacroute, Philippe; Bettinger, Keith; Moratto, Daniele; Weinacht, Katja; Montin, Davide; Gallo, Eleonora; Mangili, Giovanna; Porta, Fulvio; Notarangelo, Lucia D; Pedretti, Stefania; Al-Herz, Waleed; Alfahdli, Wasmi; Comeau, Anne Marie; Traister, Russell S; Pai, Sung-Yun; Carella, Graziella; Facchetti, Fabio; Nadeau, Kari C; Snyder, Michael; Notarangelo, Luigi D

    2013-09-01

    Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. We sought to determine the underlying genetic causes of CID-MIA by analyzing the exomic sequences of 5 patients and their healthy direct relatives from 5 unrelated families. We performed whole-exome sequencing on 5 patients with CID-MIA and 10 healthy direct family members belonging to 5 unrelated families with CID-MIA. We also performed targeted Sanger sequencing for the candidate gene tetratricopeptide repeat domain 7A (TTC7A) on 3 additional patients with CID-MIA. Through analysis and comparison of the exomic sequence of the subjects from these 5 families, we identified biallelic damaging mutations in the TTC7A gene, for a total of 7 distinct mutations. Targeted TTC7A gene sequencing in 3 additional unrelated patients with CID-MIA revealed biallelic deleterious mutations in 2 of them, as well as an aberrant splice product in the third patient. Staining of normal thymus showed that the TTC7A protein is expressed in thymic epithelial cells, as well as in thymocytes. Moreover, severe lymphoid depletion was observed in the thymus and peripheral lymphoid tissues from 2 patients with CID-MIA. We identified deleterious mutations of the TTC7A gene in 8 unrelated patients with CID-MIA and demonstrated that the TTC7A protein is expressed in the thymus. Our results strongly suggest that TTC7A gene defects cause CID-MIA. Copyright © 2013 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.

  8. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.

    Science.gov (United States)

    Samuels, Mark E; Majewski, Jacek; Alirezaie, Najmeh; Fernandez, Isabel; Casals, Ferran; Patey, Natalie; Decaluwe, Hélène; Gosselin, Isabelle; Haddad, Elie; Hodgkinson, Alan; Idaghdour, Youssef; Marchand, Valerie; Michaud, Jacques L; Rodrigue, Marc-André; Desjardins, Sylvie; Dubois, Stéphane; Le Deist, Francoise; Awadalla, Philip; Raymond, Vincent; Maranda, Bruno

    2013-05-01

    Congenital multiple intestinal atresia (MIA) is a severe, fatal neonatal disorder, involving the occurrence of obstructions in the small and large intestines ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may be associated with the phenotype. A genetic basis for MIA is likely. We had previously ascertained a cohort of patients of French-Canadian origin, most of whom were deceased as infants or in utero. The goal of the study was to identify the molecular basis for the disease in the patients of this cohort. We performed whole exome sequencing on samples from five patients of four families. Validation of mutations and familial segregation was performed using standard Sanger sequencing in these and three additional families with deceased cases. Exon skipping was assessed by reverse transcription-PCR and Sanger sequencing. Five patients from four different families were each homozygous for a four base intronic deletion in the gene TTC7A, immediately adjacent to a consensus GT splice donor site. The deletion was demonstrated to have deleterious effects on splicing causing the skipping of the attendant upstream coding exon, thereby leading to a predicted severe protein truncation. Parents were heterozygous carriers of the deletion in these families and in two additional families segregating affected cases. In a seventh family, an affected case was compound heterozygous for the same 4bp deletion and a second missense mutation p.L823P, also predicted as pathogenic. No other sequenced genes possessed deleterious variants explanatory for all patients in the cohort. Neither mutation was seen in a large set of control chromosomes. Based on our genetic results, TTC7A is the likely causal gene for MIA.

  9. Esophageal atresia

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000961.htm Esophageal atresia To use the sharing features on this page, please enable JavaScript. Esophageal atresia is a disorder of the digestive system in ...

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

    Directory of Open Access Journals (Sweden)

    Zachary Bauman

    2015-01-01

    Full Text Available 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.

  11. ATRESIA BILIER

    Directory of Open Access Journals (Sweden)

    Julinar Julinar

    2009-09-01

    Full Text Available AbstrakAtresia bilier merupakan penyakit yang jarang terjadi dan penyababnya belum diketahui secara pasti. Karakteristik dari penyakit ini adalah terjadinya inflamasi progresif pada duktus bilier sehingga terjadi obstruksi ekstrahepatal yang akhirnya dapat menyebabkan fibrosis dan sirosis hepar. Atresia bilier ada 2 tipe yaitu: 1. Syndromic atau fetal, disertai beberapa kelainan kongenital (10-20%. 2. non syndromic, tanpa disertai kelainan kongenital yang lain (80-90%. Atresia bilier akan berakibat fatal tanpa penanganan yang cepat. Kelainan ini dapat ditangani dengan metode operasi Kasai prosedure yang dapat mengalirkan kembali aliran empedu hampir 80% jika dilakukan secepatnya, gold periode >60 hari. Diagnosis dini sangat penting untuk keberhasilan operasi Kasai. Pada penulisan ini akan dilaporkan sebuah kasus atresia bilier tipe fetal, seorang anak laki-laki berusia 58 hari, dengan keluhan tampak kuning sejak usia 3 minggu disertai dengan buang air besar berwarna pucat, buang air kecil berwarna seperti teh pekat. Diagnosis ditegakkan berdasarkan gejala klinis, laboratorium, USG dan biopsi hepar yang sangat mendukung diagnosis atresia bilier. Operasi Kasai tidak efektif karena disertai dengan komplikasi kholangitis yang akhirnya menyebabkan sirosis hepatis pada 5 bulan kehidupan.Kata kunci : Atresia bilier, Kasai procedure, kholangitis, sirosis hapatisAbstractBiliary atresia is a disease of unknown etiology, characterized by progressive fibro inflammatory of the bile duct and liver that result obstruction of extrahepatic bile duct, leading to the fIbrosis and liver cirrhosis. It has two form of biliary atresia : 1. syndromic of fetal biliary atresia (10-20% with various congenital anomalies, 2. non syndromic biliary atresia (80-90% with isolated anomaly. In this case we report on an infant with the second form of biliary atresia, with diagnosis and operation was not based on liver biopsy, but on clinical features, laboratorium finding and USG

  12. Oesophageal atresia

    DEFF Research Database (Denmark)

    Pedersen, Rikke Neess; Calzolari, Elisa; Husby, Steffen

    2012-01-01

    To describe prevalence, prenatal diagnosis and epidemiological data on oesophageal atresia from 23 well-defined European regions and compare the prevalence between these regions.......To describe prevalence, prenatal diagnosis and epidemiological data on oesophageal atresia from 23 well-defined European regions and compare the prevalence between these regions....

  13. Jejuno-ileal atresia: A 2-year preliminary study on presentation and ...

    African Journals Online (AJOL)

    2011-08-11

    Aug 11, 2011 ... Background/Aim: Intestinal atresia is a common cause of neonatal intestinal obstruction. Jejuno-ileum is the commonest site of intestinal atresia. Reports on Jejunoileal atresia in developing countries are still few. The purpose of this study is to determine the presentation and management outcomes of ...

  14. Jejuno-ileal atresia: A 2-year preliminary study on presentation and ...

    African Journals Online (AJOL)

    Background/Aim: Intestinal atresia is a common cause of neonatal intestinal obstruction. Jejuno-ileum is the commonest site of intestinal atresia. Reports on Jejunoileal atresia in developing countries are still few. The purpose of this study is to determine the presentation and management outcomes of neonates with ...

  15. Umbilical cord ulceration and jejunal atresia

    African Journals Online (AJOL)

    The association between umbilical cord ulceration and congenital intestinal atresia is being increasingly reported and carries a high mortality. We report on a case of jejunal atresia associated with massive fetal haemorrhage from an umbilical cord ulcer. Fetal distress noted on continuous fetal heart monitoring allowed for ...

  16. Tricuspid Atresia

    Science.gov (United States)

    ... but can't make the heart work like one without a defect. A child born with tricuspid atresia will regularly see a cardiologist (a ... Policy Permissions Guidelines Privacy Policy & Terms of Use Notice ...

  17. Esophageal Atresia

    DEFF Research Database (Denmark)

    Pedersen, Rikke Neess; Markøw, Simone; Kruse-Andersen, Søren

    2013-01-01

    Esophageal atresia (EA) is one of the most frequent congenital alimentary tract anomalies with a considerable morbidity throughout childhood. This study evaluates the gastroesophageal problems in 5-15year old children with EA and aims to identify factors predisposing to esophagitis in EA....

  18. Facts about Pulmonary Atresia

    Science.gov (United States)

    ... Websites Information For… Media Policy Makers Facts about Pulmonary Atresia Recommend on Facebook Tweet Share Compartir Click ... pick up oxygen for the body. What is Pulmonary Atresia? Pulmonary atresia is a birth defect of ...

  19. Umbilical cord ulceration and jejunal atresia | Mackay | South ...

    African Journals Online (AJOL)

    The association between umbilical cord ulceration and congenital intestinal atresia is being increasingly reported and carries a high mortality. We report on a case of jejunal atresia associated with massive fetal haemorrhage from an umbilical cord ulcer. Fetal distress noted on continuous fetal heart monitoring allowed for ...

  20. Pyloric atresia-Three cases and review of literature

    Directory of Open Access Journals (Sweden)

    Sandesh V Parelkar

    2014-01-01

    Full Text Available Pyloric atresia (PA is a rare congenital anomaly that constitutes approximately 1% of all intestinal atresias, and its incidence is approximately 1 in 100,000 live births. PA may occur as an isolated condition or associated with other abnormalities, the most common being Junctional epidermolysis bullosa (JEB. Evidence suggests that PA-EB (Pyloric Atresia - Epidermolysis Bullosa Syndrome is a distinct entity. In this report, we present three cases of pyloric atresia, one of which was associated with Junctional epidermolysis bullosa. The literature on the subject is also reviewed.

  1. Oesophageal atresia

    Directory of Open Access Journals (Sweden)

    Spitz Lewis

    2007-05-01

    Full Text Available Abstract Oesophageal atresia (OA encompasses a group of congenital anomalies comprising of an interruption of the continuity of the oesophagus with or without a persistent communication with the trachea. In 86% of cases there is a distal tracheooesophageal fistula, in 7% there is no fistulous connection, while in 4% there is a tracheooesophageal fistula without atresia. OA occurs in 1 in 2500 live births. Infants with OA are unable to swallow saliva and are noted to have excessive salivation requiring repeated suctioning. Associated anomalies occur in 50% of cases, the majority involving one or more of the VACTERL association (vertebral, anorectal, cardiac, tracheooesophageal, renal and limb defects. The aetiology is largely unknown and is likely to be multifactorial, however, various clues have been uncovered in animal experiments particularly defects in the expression of the gene Sonic hedgehog (Shh. The vast majority of cases are sporadic and the recurrence risk for siblings is 1%. The diagnosis may be suspected prenatally by a small or absent stomach bubble on antenatal ultrasound scan at around 18 weeks gestation. The likelihood of an atresia is increased by the presence of polyhydramnios. A nasogastric tube should be passed at birth in all infants born to a mother with polyhydramnios as well as to infants who are excessively mucusy soon after delivery to establish or refute the diagnosis. In OA the tube will not progress beyond 10 cm from the mouth (confirmation is by plain X-ray of the chest and abdomen. Definitive management comprises disconnection of the tracheooesophageal fistula, closure of the tracheal defect and primary anastomosis of the oesophagus. Where there is a "long gap" between the ends of the oesophagus, delayed primary repair should be attempted. Only very rarely will an oesophageal replacement be required. Survival is directly related to birth weight and to the presence of a major cardiac defect. Infants weighing over

  2. Atresia of the gastrointestinal tract: imaging evaluation; Atresia do trato gastrintestinal: avaliacao por metodos de imagem

    Energy Technology Data Exchange (ETDEWEB)

    Figueiredo, Sizenildo da Silva; Nobrega, Bruno Barcelos da; Ribeiro, Luiza Helena Vilela; Costa, Marlos Augusto Bittencourt; Monteiro, Soraya Silveira; Lederman, Henrique Manoel [Universidade Federal de Sao Paulo (UNIFESP/EPM), SP (Brazil). Dept. de Diagnostico por Imagem]. E-mail: brunoradiol@hotmail.com; Oliveira, Galba Leite [Irmandade Santa Casa de Misericordia de Sao Paulo, SP (Brazil). Dept. de Diagnostico por Imagem; Esteves, Edward [Goias Univ., Goiania, GO (Brazil). Faculdade de Medicina. Dept. de Cirurgia e Urologia Pediatrica

    2005-04-01

    A wide spectrum of congenital anomalies may affect the gastrointestinal tract at any level from the esophagus to the anus. Atresia is an important cause of gastrointestinal obstruction with high morbidity rate in neonates. Different pathogenetic mechanisms could cause this malformation and the two classical explanations are: a defect of recanalization of the intestinal tube or an interruption of blood supply during intrauterine life. The authors present a literature review with an iconographic essay of imaging findings in children with gastrointestinal atresia. (author)

  3. Biliary atresia

    Directory of Open Access Journals (Sweden)

    Sinha C

    2008-01-01

    Full Text Available Biliary atresia (BA is a cholangiodestructive disease affecting biliary tract, which ultimately leads to cirrhosis, liver failure and death if not treated. The incidence is higher in Asian countries than in Europe. Up to 10% of cases have other congenital anomalies, such as polysplenia, asplenia, situs inversus, absence of inferior vena cava and pre-duodenal portal vein, for which we have coined the term Biliary Atresia Splenic Malformation (BASM syndrome. For these infants the aetiology lies within the first trimester of gestation. For others affected with BA, aetiology is more obscure and perinatal destruction of fully-formed ducts perhaps by the action of hepatotropic viruses has been suggested. Whatever the cause, the lumen of the extrahepatic duct is obliterated at a variable level and this forms the basis for the commonest classification (Types I, II, III. All patients with BA present with varying degree of conjugated jaundice, pale non-pigmented stools and dark urine. Key diagnostic tests include ultrasonography, biochemical liver function tests, viral serology, and (in our centre a percutaneous liver biopsy. In some centres, duodenal intubation and measurement of intralumenal bile is the norm. Currently BA is being managed in two stages. The first stage involves the Kasai operation, which essentially excises all extrahepatic biliary remnants leaving a transected portal plate, followed by biliary reconstruction using a Roux loop onto that plate as a portoenterostomy. If bile flow is not restored by Kasai procedure or life-threatening complications of cirrhosis ensue then consideration should be given to liver transplantation as a second stage. The outcome following the Kasai operation can be assessed in two ways: clearance of jaundice to normal values and the proportion who survive with their native liver. Clearance of jaundice (< 2 mg/dL or < 34 µmol/L after Kasai has been reported to be around 60%, whereas five years survival with

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

    Science.gov (United States)

    Diaz, Diana N; Eftekhari, Kambiz

    2015-05-01

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

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

    Science.gov (United States)

    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.

  6. Congenital pyloric atresia (CPA): report of two cases, with review of literature

    International Nuclear Information System (INIS)

    Bader, I.; Haq, A.; Akhter, N.; Abbasi, Z.

    2004-01-01

    We are reporting two neonates with isolated pyloric atresia, with an objective to emphasize the importance of considering this rare condition in the differential diagnosis of upper intestinal atresias. Both had no-bilious vomiting and epigastric fullness. X-ray showed a dilated gastric shadow with no evidence of gas in the rest of the abdomen. On exploration they had pyloric atresia which was corrected with gastroduodenostromy. Congenital pyloric atresia is a rare condition, which presents with features of gastric outlet obstruction. It can be diagnosed antenatally but the picture can mimic other conditions. Epidermolysis bullosa has a strong association with it and require skin biopsy for diagnosis. (author)

  7. Jejunal atresia in twins

    NARCIS (Netherlands)

    Moorman-Voestermans, C. G.; Heij, H. A.; Vos, A.

    1990-01-01

    In the past 2 1/2 years a sudden increase in the frequency of jejunal atresia in discordant, nonidentical twins was observed. Reported are the details of 11 cases and some reflections on possible pathogenetic mechanisms involved

  8. congenital Biliary atresia

    African Journals Online (AJOL)

    the porta hepatis. •. Type III (>90% of patients) involves atresia of the right and left hepatic ducts to the level of the porta hepatis2. Incidence of biliary atresia has been noted to be between 1:10,000 – 1:15,000 live births3 and is highest in the Asian population. The disorder also occurs in black infants, with an incidence.

  9. Biliary Atresia Associated with Jejunal Atresia and a Review of the Literature in Japan

    OpenAIRE

    Asabe, Koushi; Yukitake, Ko; Mori, Toshiko; Mitsudome, Akihisa; Shirakusa, Takayuki

    2005-01-01

    An unusual case of biliary atresia with jejunal atresia is herein described. Only 12 cases demonstrating biliary atresia associated with a jejunal atresia have been previously reported in Japan. The pathogenesis of biliary atresia is thought to be secondary to the influence of jejunal atresia.

  10. [Congenital Esophageal Atresia].

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  12. Biliary Atresia: 50 Years after the First Kasai

    Science.gov (United States)

    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

  13. Newborn Screening for Biliary Atresia

    Science.gov (United States)

    Wang, Kasper S.

    2016-01-01

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

  14. Meconial peritonitis in a rare association of partial ileal apple-peel atresia with small abdominal wall defect

    Directory of Open Access Journals (Sweden)

    V. Insinga

    2014-06-01

    Full Text Available Intestinal atresia type III B (apple peel and gastroschisis are both congenital malformations who require early surgical correction in neonatal age. Their association is very rare. We present the case of a full term infant with partial apple peel ileal atresia and a small defect of the anterior abdominal wall, complicated by in utero intestinal perforation and subsequent meconial peritonitis. We observed a partial atresia of small intestine, with involvement of terminal ileus savings of jejunum and a large part of the proximal ileum, small anterior abdominal wall defect with herniation of few bowel loops, intestinal malrotation. Paralytic ileus and infections are the main causes of morbidity and mortality at neonatal age. In our case, in spite of the mild phenotype, prognosis has been complicated by the onset of functional bowel obstruction, caused by chemical peritonitis resulting from contact with either amniotic fluid and meconium.

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

    OpenAIRE

    Bauman, Zachary; Nanagas, VictorJr.

    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 ve...

  16. Biliary atresia recent insight

    Directory of Open Access Journals (Sweden)

    Ramy Mohamed Ghazy

    2018-03-01

    Full Text Available Biliary atresia (BA is a rare disease characterized by ascending obstruction of bile ducts that exclusively affects newborn infants. The etiology of the disease is not known. BA is considered to be a phenotype resulting from several pathogenic processes leading to obstruction of the biliary tree. It usually presents shortly after birth, characterized by persistent jaundice, hepatosplenomegaly, clay-colored stool, and dark urine. It affects both the extra-hepatic biliary ducts (EHBDs and the intra-hepatic biliary system (IHBDs, but the former is more severely affected. Diagnosis of BA is a great challenge and must be achieved as early as possible to delay progression to cirrhosis. Laboratory tests reveal direct hyperbilirubinemia and, variable levels of transaminases, gamma-glutamyl transpeptidase (GGT, and alkaline phosphatase (ALP, which overlap significantly with other causes of neonatal cholestasis. The intraoperative cholangiogram is considered the gold standard for the diagnosis of BA and is performed routinely in many institutions. BA can be divided into correctable and non-correctable types; the former accounts for (10–15% of cases, in which the proximal common hepatic duct is patent, allowing primary anastomosis of the EHBDs to the bowel. All patients are subjected to identical surgical and medical treatments; consisting of Kasai portoenterostomy (KPE, which entails removal of the atretic extra-hepatic tissue and a Roux-en-Y jejunal loop anastomosed to the hepatic hilum. Kasai portoenterstomy is considered a transition to liver transplantation, as the pathology may be still ongoing. BA is the most frequent indication for liver transplantation in infants, which is the only treatment that can definitively arrest the natural disease course. In conclusion: BA is a serious liver disease that needs to be further studied, and awareness of BA should be increased among the public and health care workers to prevent the complications of this

  17. TTC7A mutations disrupt intestinal epithelial apicobasal polarity

    NARCIS (Netherlands)

    Bigorgne, Amélie E; Farin, Henner F; Lemoine, Roxane; Mahlaoui, Nizar; Lambert, Nathalie; Gil, Marine; Schulz, Ansgar; Philippet, Pierre; Schlesser, Patrick; Abrahamsen, Tore G; Oymar, Knut; Davies, E Graham; Ellingsen, Christian Lycke; Leteurtre, Emmanuelle; Moreau-Massart, Brigitte; Berrebi, Dominique; Bole-Feysot, Christine; Nischke, Patrick; Brousse, Nicole; Fischer, Alain; Clevers, Hans; de Saint Basile, Geneviève

    Multiple intestinal atresia (MIA) is a rare cause of bowel obstruction that is sometimes associated with a combined immunodeficiency (CID), leading to increased susceptibility to infections. The factors underlying this rare disease are poorly understood. We characterized the immunological and

  18. MRI in distal vaginal atresia

    International Nuclear Information System (INIS)

    Hugosson, C.; Jorulf, H.; Bakri, Y.

    1991-01-01

    Magnetric resonance imaging in two young females with abdominal pain revealed vaginal atresia with massive hematocolpos but a normal cervix and uterine body. Information obtained with MRI was superior to ultrasound and CT and is suggested as the examination of choice prior to surgical correction. (orig.)

  19. Genetics Home Reference: epidermolysis bullosa with pyloric atresia

    Science.gov (United States)

    ... bullosa with pyloric atresia Epidermolysis bullosa with pyloric atresia Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the ...

  20. Congenital Pyloric Atresia; a report of two cases

    International Nuclear Information System (INIS)

    Tayeb, Maaen; Khogeer, Suzie; Fallatah, Amna; Hamchou, Mustafa A.

    2005-01-01

    Congenital pyloric atresia (CPA) is a very rare malformation that constitutes less than 1% of all gas upper gastrointestinal atresias. It is a unique malformation that is commonly seen as an isolated lesion, but can also occur in association with other genetically determined conditions such as hereditary multiple intestinal atresias (HMIA). This is a report of two cases of isolated isolated CPA, outlining aspects of diagnosis and management. A 2-day-old female, a product of 35-weeks gestation via a low cesarean delivery due to a transverse lie to a 25-year-old mother who had gestational insulin dependent diabetes and polyhydraminos was referred because of non-bile stained vomiting. Her abdominal x-ray showed dilated stomach with no gas distally. Gastrograffin meal confirmed the diagnosis of gastric outlet obstruction. She was found to have pyloric artesia. This was excised via longitudinal incision in the pylorus, which was then closed transversely. Subsequently she did well. A 1-year -old female was evaluated because of persistent non-bile stained vomiting. Abdominal x-ray showed dilated stomach with no gas distally and barium meal confirmed the diagnosis of gastric outlet obstruction. She was operated and on during surgery was found to have congenital pyloric atresia. This was excised via longitudinal incsion in the pylorus. She did well. CPA is divided in three types: 1) Pyloric membrane 2) Pyloric artesia without a gap 3) Pyloric artesia with a gap. Both our patients have pyloric diaphagrams. The treatment of CPA is surgical and depends on the type of arteseia. For those with pyloric diaphagram or pyloric artesia without a gap the treatment is excision of diphagaram. This is also of importance in case there is more than one diaphagram. For those with pyloric artesia with a gap, if the gap is short, they should be treated with a Finny or Heineke-Mickulicz pyloroplasty, but if the gap is long then a gastroduodenostomy becomes the treatment of choice

  1. Biliary atresia. A surgical perspective.

    Science.gov (United States)

    Ohi, R

    2000-11-01

    The combination of portoenterostomy with subsequent liver transplantation is the treatment of choice for patients with biliary atresia. It is important, however, to attempt to keep the patient's own organ by continuing efforts to achieve the best possible results with portoenterostomy. Additional basic research, perhaps concerning on the role of cytokines and apoptosis in the control of biliary atresia, may provide insight into possible new medical strategies for treating patients with biliary atresia. For example, in addition to portoenterostomy, control of apoptosis at various cellular levels and of bile duct cell proliferation and maturation by manipulation of the growth factors and cytokines may become part of future treatment modalities. Another direction of research should be the control of fibrogenesis, which might be accomplished by blocking TGF-beta 1 and platelet-derived growth factor and by HGF gene therapy. The author's current strategy for surgical treatment for patients with biliary atresia include (1) early diagnosis, including prenatal diagnosis and broader use of mass screening programs, (2) hepatic portoenterostomy, without stoma formation; (3) close postoperative care, especially for prevention of postoperative cholangitis; (4) revision of portoenterostomy only in selected cases; (5) early liver transplantation in patients with absolutely failed portoenterostomy; (6) avoidance of laparotomy for the treatment of esophageal varices and hypersplenism; (7) consideration of exploratory laparotomy or primary liver transplantation for patients with advanced liver disease at the time of referral. The development of new treatment modalities based on the understanding of the pathogenesis of the disease, and especially on the biology of intrahepatic bile ducts and hepatic fibrosis, is essential.

  2. Atresia coli in a Japanese black calf diagnosed by a barium sulphate enema contrast radiograph in the standing position: a case report

    International Nuclear Information System (INIS)

    Abouelnasr, K.; Ishii, M.; Inokuma, H.; Kobayashi, Y.; Lee, K.; Yamada, K.

    2012-01-01

    A three day-old Japanese black calf was admitted with a history of abdominal distension and absence of defecation. Dilated loops of the small intestine and hypoplasia of the colon and rectum was observed upon a contrast radiographic examination in the standing position. At necropsy atresia coli with undeveloped rectum and patent anal opening was found. We conclude that a contrast radiograph in the standing position is useful for diagnosing atresia coli in such cases

  3. PICTORIAL INTERLUDE Unilateral membranous choanal atresia

    African Journals Online (AJOL)

    Images of a case of unilateral choanal atresia diagnosed in a 35-year- old woman are presented. This is an uncommon diagnosis in an adult patient, and a less frequently encountered form of the condition. In more than 90% of cases of choanal atresia, the abnormality is partly or completely osseous; pure membranous ...

  4. Computed tomography of atresia auris congenita

    International Nuclear Information System (INIS)

    Kiuchi, Sousuke; Koide, Fujio

    1983-01-01

    Computed tomography was performed in 9 patients with atresia auris congenita. In this study, scans were done in axial or coronal projection with the CT/T body scanner. The external auditory canals were involved in varying degrees from mild narrowing to complete atresia. In partial atresia, CT scanning demonstrated the patency of the canal, and also showed the cardrum as a clearly defined soft tissue. Simulatenously, the associated middle ear anomalies were well demonstrated. One of the most common deformities of the ossicular chains was fusion of the malleus and incus. In some cases, these ossicles were dislocated, and occasionally were fixed to the atresia plate or attic wall. Other variations of the temporal bone could be assumed. We concluded that CT is the technique of choice to evaluate patients with atresia auris congenita. (author)

  5. Congenital pyloric atresia, presentation, management, and outcome: a report of 20 cases.

    Science.gov (United States)

    Al-Salem, Ahmed H; Abdulla, Mohamed Ramadan; Kothari, Mukul R; Naga, Mohamed Ibrahim

    2014-07-01

    Congenital pyloric atresia (CPA) is a very rare anomaly. It is usually seen as an isolated condition with excellent prognosis. Few cases are familial. These are usually associated with other hereditary conditions and have a poor prognosis. This is a review of our experience with 20 patients with CPA outlining aspects of diagnosis, associated anomalies and management. This is a retrospective analysis of 20 cases seen over a 22 year period (December 1990 to December 2012). Their records reviewed for: age, sex, presentation, prenatal history, associated anomalies, investigations, treatment, operative findings and the outcome. 20 cases (9 Males, 11 Females) were treated. 7 patients were full term and the remaining 13 were prematures. Their mean birth weight was 2.1 kg (1.1 kg to 3.9 kg). Polyhydramnios was seen in 13 patients (65%). Two were brothers and four were members of the same family. Isolated CPA was seen in 7 (35%); 13 had an associated conditions: epidermolysis bullosa (EB) in 8 (40%) and multiple intestinal atresias (MIA) in 5 (25%). Three patients had associated esophageal atresia. All were operated on except two who died early due to unrelenting sepsis. The variety of pyloric atresias encountered were as follows: pyloric diaphragm in 13 including double diaphragms in 2, pyloric atresia with a gap in 4 and pyloric atresia without gap in 3. Ten died postoperatively giving an overall survival of 40%. CPA is a very rare condition. Isolated CPA carries a good prognosis. Association of CPA with other familial and congenital anomalies like EB and MIA carries a poor prognosis. © 2014.

  6. Ileal atresia and multiple jejunal perforations in a premature neonate with gestational alloimmune liver disease

    OpenAIRE

    McAdams, Ryan M.

    2017-01-01

    Recovery after surgical repair of an ileal atresia with or without intestinal perforation requires prolonged exposure to parenteral nutrition (PN) that may lead to PN-associated liver disease. Early liver failure and cholestasis out of proportion for PN exposure may be a harbinger for gestational alloimmune liver disease (GALD), a potentially life-threatening condition that often requires liver transplant if not treated in a timely manner. This case report presents a premature neonate with il...

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

    Science.gov (United States)

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

    2016-04-01

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

  8. Choanal Atresia and Craniosynostosis: Development and Disease.

    Science.gov (United States)

    Lesciotto, Kate M; Heuzé, Yann; Jabs, Ethylin Wang; Bernstein, Joseph M; Richtsmeier, Joan T

    2018-01-01

    A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Review of over 50 case reports that describe patients diagnosed with both conditions reveals inconsistent descriptions of choanal atresia and limited use of definitive diagnostic methodologies. The authors further present preliminary analysis of three-dimensional medical head computed tomographic scans of children diagnosed with craniosynostosis syndromes (e.g., Apert, Pfeiffer, Muenke, and Crouzon) and typically developing children and, although finding no evidence of choanal atresia, report the potentially reduced nasal airway volumes in children diagnosed with Apert and Pfeiffer syndromes. A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia. The significant correlation between specific craniosynostosis syndromes and reduced nasal airway volume in mouse models for craniosynostosis and human pediatric patients indicates comorbidity of choanal and nasopharyngeal dysmorphologies and craniosynostosis conditions. Genetic, developmental, and epidemiologic sources of these interactions are areas particularly worthy of further research.

  9. A study of associated congenital anomalies with biliary atresia

    Science.gov (United States)

    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

  10. The Surgical Correction of Congenital Deformities: The Treatment of Diaphragmatic Hernia, Esophageal Atresia and Small Bowel Atresia.

    Science.gov (United States)

    Wessel, Lucas M; Fuchs, Jörg; Rolle, Udo

    2015-05-15

    More than half of all congenital deformities can be detected in utero. The initial surgical correction is of paramount importance for the achievement of good long-term results with low surgical morbidity and mortality. Selective literature review and expert opinion. Congenital deformities are rare, and no controlled trials have been performed to determine their optimal treatment. In this article, we present the prenatal assessment, treatment, and long-term results of selected types of congenital deformity. Congenital diaphragmatic hernia (CDH) affects one in 3500 live-born infants, while esophageal atresia affects one in 3000 and small-bowel atresia one in 5000 to 10,000. If a congenital deformity is detected and its prognosis can be reliably inferred from a prenatal assessment, the child should be delivered at a specialized center (level 1 perinatal center). The associated survival rates are 60-80% after treatment for CDH and well over 90% after treatment for esophageal or small-bowel atresia. Despite improvements in surgical correction over the years, complications and comorbidities still affect 20-40% of the treated children. These are not limited to surgical complications in the narrow sense, such as recurrence, postoperative adhesions and obstruction, stenoses, strictures, and recurrent fistulae, but also include pulmonary problems (chronic lung disease, obstructive and restrictive pulmonary dysfunction), gastrointestinal problems (dysphagia, gastro-esophageal reflux, impaired intestinal motility), and failure to thrive. Moreover, the affected children can develop emotional and behavioral disturbances. Minimally invasive surgery in experienced hands yields results as good as those of conventional surgery, as long as proper selection criteria are observed. Congenital deformities should be treated in recognized centers with highly experienced interdisciplinary teams. As no randomized trials of surgery for congenital deformities are available, longitudinal

  11. A Minor Innovation in Constructing a Small Bowel Stoma in Neonates with Small Bowel Atresia to Reduce the Morbidity.

    Science.gov (United States)

    Khan, Naeem; Bakht, Saba; Zaheer, Nadia

    2016-01-01

    Intestinal atresia has still significant morbidity in developing countries. Stomas are now not recommended in every case of intestinal atresia; primary anastomosis is the goal of surgery after resection of dilated adynamic gut. A new type of stoma formation along with primary anastomosis is being presented here. This report is based on our experience of many cases with this technique in last 12 years but all the details and long follow-up of each case is not available. However the method of surgical procedure, progress, complications, and advantages encountered have been highlighted. Presently we have data of 7 patients; others are lost to follow up. Three had died with other associated problems, namely one with multiple atresias, two with septic shock and prematurity. Two stomas did not require formal closure because stoma shriveled and disappeared. Two other stomas had grown very long like a diverticulum when these were closed after 5 and 8 months. This technique is another attempt to decrease morbidity of patients of intestinal atresia especially in those cases where short bowel syndrome is feared after resection of proximal dilated gut.

  12. Biliary atresia: service delivery and outcomes.

    Science.gov (United States)

    Stringer, Mark D

    2008-05-01

    Biliary atresia is a complex disorder dependent on multidisciplinary management. A series of comprehensive national audits in the United Kingdom and France exposed a clear relationship between center volume and clinical outcomes. Different models were adopted in each country in an attempt to improve results. In the United Kingdom, the management of biliary atresia was centralized to three specialist units in 1999, whereas in France, a strategy of decentralized management with closer inter-unit cooperation was adopted in 1997. Both policy changes led to improved outcomes for infants with biliary atresia, but only centralization improved the overall results of Kasai portoenterostomy. Other countries have adopted alternative systems of audit based on voluntary registries, but the impact of these on clinical outcomes at a national level remains unknown. The utility of monitoring tools in assessing performance in biliary atresia, the importance of risk stratification, and the need for standardized definitions of outcome are highlighted.

  13. [Myosin B ATPase activity of the intestinal smooth muscle in intestinal obstruction].

    Science.gov (United States)

    Takamatsu, H

    1983-06-01

    Intestinal smooth myosin B was prepared from muscle layers around the lesion in dogs with experimental colonic stenosis and in patients with congenital intestinal obstruction. Mg2+-ATPase activity of the myosin B was compared between the proximal dilated segment and distal segment to obstruction. Experimental colonic stenosis: In early period after surgery, proximal colons showed higher activity of myosin B ATPase than distal colons, decreasing to less than distal colon as time passed. Congenital intestinal obstruction: In three cases, whose atresia might have occurred at earlier period of gestation, proximal bowels showed less activity of myosin B ATPase than distal bowels. However, in two cases, whose atresia might have occurred at later period of gestation, and two cases with intestinal stenosis, proximal bowels indicated higher activity of myosin B ATPase than distal bowels. These data suggested that the contractibility of the proximal intestine was depending on the duration of obstruction, and it was depressed in the former patients and was accelerated in the latter patients. These results suggested that the extensive resection of dilated proximal bowel in the congenital atresia is not always necessary to obtain good postoperative intestinal dynamics at the operation of the atresial lesions which may be induced at later period of gestation. They also suggested that surgery for intestinal obstruction should be performed before the depression of intestinal contractibility to get good bowel function.

  14. Choanal atresia in siblings; Case report | Kaitesi | East and Central ...

    African Journals Online (AJOL)

    Choanal atresia is an uncommon and often poorly recognized cause of unilateral or bilateral nasal obstruction. This report describes the case of bilateral choanal atresia in two consecutive siblings and describes the methods of treatment offered.

  15. Prenatal diagnosis of horseshoe lung and esophageal atresia

    Energy Technology Data Exchange (ETDEWEB)

    Goldberg, Shlomit; Ringertz, Hans [Stanford University School of Medicine, Radiology Department, Stanford, CA (United States); Barth, Richard A. [Stanford University School of Medicine, Radiology Department, Stanford, CA (United States); Lucile Packard Children' s Hospital, Radiology, Palo Alto, CA (United States)

    2006-09-15

    We present a case of horseshoe lung (HL) and esophageal atresia suspected prenatally on US imaging and confirmed with fetal MRI. Prenatal diagnosis of HL and esophageal atresia allowed for prenatal counseling and informed parental decisions. (orig.)

  16. Chronic intestinal pseudoobstruction syndrome

    International Nuclear Information System (INIS)

    Yeon, Kyung Mo; Seo, Jeong Kee; Lee, Yong Seok

    1992-01-01

    Chronic intestinal pseudoobstruction syndrome is a rare clinical condition in which impaired intestinal peristalsis causes recurrent symptoms of bowel obstruction in the absence of a mechanical occlusion. This syndrome may involve variable segments of small or large bowel, and may be associated with urinary bladder retention. This study included 6 children(3 boys and 3 girls) of chronic intestinal obstruction. Four were symptomatic at birth and two were of the ages of one month and one year. All had abdominal distension and deflection difficulty. Five had urinary bladder distension. Despite parenteral nutrition and surgical intervention(ileostomy or colostomy), bowel obstruction persisted and four patients expired from sepses within one year. All had gaseous distension of small and large bowel on abdominal films. In small bowel series, consistent findings were variable degree of dilatation, decreased peristalsis(prolonged transit time) and microcolon or microrectum. This disease entity must be differentiated from congenital megacolon, ileal atresia and megacystis syndrome

  17. New successful one-step surgical repair for apple peel atresia

    Directory of Open Access Journals (Sweden)

    Machmouchi M

    2011-11-01

    Full Text Available Mahmoud MachmouchiDepartment of Pediatrics, Royal Commission Hospital, Jubail, Saudi ArabiaAbstract: A new successful surgical approach in two identical twins delivered with intestinal atresia, “apple peel” type is reported. This technique consists of: (1 an end-to-end oblique primary anastomosis with single layer inverted 5/0 Vicryl® sutures (Ethicon, Inc, Somerville, NJ; (2 proximal tube jejunostomy using Foley catheter, size 10 French, inserted through a stab wound in the left upper quadrant and entering the proximal dilated loop at about 10 cm proximal from its blind end (site of anastomosis; and (3 transanastomotic stenting using feeding tube, size 6 French, exteriorized in conjunction with the Foley catheter and reaching the lumen of the distal loop for more than 20 cm. The postoperative course was uneventful and progressive oral feed became ad libitum around day 40 postoperative. This procedure is simple, performed in one stage, and responds to the most obligatory requirements of this congenital malformation.Keywords: proximal jejunal atresia, intestinal atresia, surgical repair, anastomosis

  18. Pyloric atresia: a challenge in an underdeveloped country | Sagna ...

    African Journals Online (AJOL)

    Pyloric atresia is a rare congenital malformation. We report a case in a 5-day newborn with pyloric atresia type C. Authors emphasize the diagnostic difficulties and therapeutic challenges in a resource-limited country. Keywords: Pyloric atresia, newborn, rare congenital malformation ...

  19. Atresia of jejunum and ileum: is it the same disease?

    NARCIS (Netherlands)

    Heij, H. A.; Moorman-Voestermans, C. G.; Vos, A.

    1990-01-01

    A retrospective analysis of 21 patients with jejunal atresia and 24 with ileal atresia showed more differences than similarities between the two categories. The incidence of jejunal atresia appeared to be increasing during the period of observation (1978 to 1987). In the past 2 years, many children

  20. Cxcr2 signaling and the microbiome suppress inflammation, bile duct injury, and the phenotype of experimental biliary atresia

    Science.gov (United States)

    Jee, Junbae; Mourya, Reena; Shivakumar, Pranavkumar; Fei, Lin; Wagner, Michael

    2017-01-01

    Biliary atresia is progressive fibro-inflammatory cholangiopathy of young children. Central to pathogenic mechanisms of injury is the tissue targeting by the innate and adaptive immune cells. Among these cells, neutrophils and the IL-8/Cxcl-8 signaling via its Cxcr2 receptor have been linked to bile duct injury. Here, we aimed to investigate whether the intestinal microbiome modulates Cxcr2-dependent bile duct injury and obstruction. Adult wild-type (WT) and Cxcr2-/- mice were fed a diet supplemented with sulfamethoxazole/trimethoprim (SMZ/TMP) during pregnancy and lactation, and their pups were injected intraperitoneally with rhesus rotavirus (RRV) within 24 hours of life to induce experimental biliary atresia. The maternal exposure to SMZ/TMP significantly lowered the incidence of jaundice and bile duct obstruction and resulted in improved survival, especially in Cxcr2-/- mice. Analyses of the microbiome by deep sequencing of 16S rRNA of the neonatal colon showed a delay in bacterial colonization of WT mice induced by SMZ/TMP, with a notable switch from Proteobacteria to Firmicutes. Interestingly, the genetic inactivation of Cxcr2 alone produced a similar bacterial shift. When treated with SMZ/TMP, Cxcr2-/- mice infected with RRV to induce experimental biliary atresia showed further enrichment of Corynebacterium, Anaerococcus and Streptococcus. Among these, Anaerococcus lactolyticus was significantly associated with a suppression of biliary injury, cholestasis, and survivability. These results suggest that the postnatal development of the intestinal microbiota is an important susceptibility factor for experimental biliary atresia. PMID:28763485

  1. Ileal atresia and multiple jejunal perforations in a premature neonate with gestational alloimmune liver disease

    Directory of Open Access Journals (Sweden)

    Ryan M. McAdams, MD

    2017-04-01

    Full Text Available Recovery after surgical repair of an ileal atresia with or without intestinal perforation requires prolonged exposure to parenteral nutrition (PN that may lead to PN-associated liver disease. Early liver failure and cholestasis out of proportion for PN exposure may be a harbinger for gestational alloimmune liver disease (GALD, a potentially life-threatening condition that often requires liver transplant if not treated in a timely manner. This case report presents a premature neonate with ileal atresia and multiple jejunal perforations who developed liver failure and was later determined to have GALD. Recognition of clinical and laboratory findings consistent with GALD is essential to promote early treatment, which can enhance neonatal outcomes and impact future pregnancies.

  2. Current knowledge on esophageal atresia

    Science.gov (United States)

    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

  3. Biliary atresia: Where do we stand now?

    Science.gov (United States)

    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

  4. [Antenatal diagnosis and management of ileal atresia].

    Science.gov (United States)

    Dhibou, Hanane; Bassir, Ahlam; Sami, Nadia; Boukhanni, Lahcen; Fakhir, Bouchra; Asmouki, Hamid; Soummani, Abderraouf

    2016-01-01

    Ileal atresia is a rare congenital malformation which affects a small percentage of the population, with an incidence of 1 in 5000 cases. It may be suspected and diagnosed by ultrasound at the end of the second and third trimester. Obstetrical and surgical consultation is the key to success here. Eliminating a systemic disease with poor prognosis, fighting to reduce premature births and immediately entrusting the child to the surgeon are the main objectives to achieve. During surgery, the surgeon will determine the type of atresia, its location, single or multiple areas of occlusion and its length; thus surgery depends on etiology. Our study reports an interesting clinical case of ileal atresia diagnosed antenatall.

  5. Wind sock deformity in rectal atresia

    International Nuclear Information System (INIS)

    Hosseini, Seyed M V; Ghahramani, Farhad; Shamsaeefar, Alireza; Razmi, Tannaz; Zarenezhad, Mohammad

    2009-01-01

    Rectal atresia is a rare anorectal deformity. It usually presents with neonatal obstruction and it is often a complete membrane or severe stenosis. Windsock deformity has not been reported in rectal atresia especially, having been missed for 2 years. A 2-year-old girl reported only a severe constipation despite having a 1.5-cm anal canal in rectal examination with scanty discharge. She underwent loop colostomy and loopogram, which showed a wind sock deformity of rectum with mega colon. The patient underwent abdominoperineal pull-through with good result and follow-up. This is the first case of the wind sock deformity in rectal atresia being reported after 2 years of age. (author)

  6. TABIQUE VAGINAL TRANSVERSO Y ATRESIA VAGINAL

    OpenAIRE

    Bustos,Paola; Smirnow,Marcia

    2003-01-01

    El tabique vaginal transverso, la atresia vaginal parcial y la atresia vaginal total, son una gama de alteraciones congénitas, en las que se ve afectada la continuidad de la vagina. En conjunto, son malformaciones poco frecuentes del aparato genital. A continuación exponemos la experiencia de nuestro servicio respecto a esta patología, durante 13 años(1989 a 2002), presentando 4 casos clínicos y un análisis del tema basado en la literatura

  7. Choanal Atresia: Surgical Management by Hegar's Dilators.

    Science.gov (United States)

    Sinha, Vikas; Gurnani, Deepanshu; Modi, Niral R; Barot, Dilavar A; Maniyar, Hiten R; Pandey, Ambuj

    2014-09-01

    Choanal atresia is one of the more commonly observed congenital abnormalities of the nose. The condition is predominantly found in females with a M:F ratio of 1:2. 65-75 % of patients with choanal atresia are unilateral, and the rest are bilateral. About 50 % of the cases are associated with other congenital anomalies, the most common being coloboma, Heart disease, choanal atresia, mental and growth retardation, genital hypoplasia, ear deformities syndrome. The embryonic origin of choanal atresia is due to persistent bucco-pharyngeal or naso-buccal membrane. Our study was a retrospective study of 14 cases of choanal atresia. All the cases were operated by the first author. Each patient was investigated in detail and recorded by stratifying in sex of patient, age of presentation, type and site of atresia, and associated other congenital anomalies. Patient were operated under general anesthesia and Hegar's dilators were used to perforate the atretic plate as Hegar's dilators are believed to have ideal curvature with respect to the sloping contour of the nasal floor. Out of the total 14 cases, 9 (64 %, n = 14) cases were male and 5 (36 %, n = 14) females. The age variations varied from youngest of 3 days to the oldest 31 year old female. Stents were kept for a period of 6-8 weeks and regular follow up nasal endoscopy was done weekly for suctioning and visualizing the size of the airway. There are five different surgical approaches that have been described for surgical treatment of choanal atresia: (1) trans-nasal, (2) trans-palatal, (3) trans-septal, (4) trans-antral and (5) sublabial-transnasal. In our study M:F ratio was 1.8:1 which is comparable Gosepath et al. (Rhinology 45:158-163, 2007) (2:1). In our study bilateral atresia was seen in 43 % (6, n = 14) and unilateral in 57 % (8, n = 14) which is comparable to Newman et al. (44 % bilateral cases, n = 43). Amicable and prompt referral to the ENT surgeon can be of immense value so as to buy

  8. Atresia del esófago

    OpenAIRE

    Plata Rueda, Ernesto

    2011-01-01

    El trabajo tiene por objeto llamar la atención acerca de la importancia del diagnóstico precoz de la atresia del esófago como base indispensable del éxito en su tratamiento quirúrgico. Se revisan someramente los tipos anatómicos de atresia esofágica y se dan detalles acerca de los métodos de diagnóstico, preoperatorio y postoperatorio. Se resumen a continuación en forma autocrítica los 4 casos que constituyen el fundamento del trabajo y se ilustra en detalle el último que fue operado con éxit...

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

    Directory of Open Access Journals (Sweden)

    Rohit S Loomba

    2015-01-01

    Full Text Available 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.

  10. Histopathologic observations of anorectal abnormalities in anal atresia.

    Science.gov (United States)

    Meier-Ruge, W A; Holschneider, A M

    2000-01-01

    Over the years from 1992 to 1997, 41 anorectal malformations (ARM) with histopathologic alterations were investigated to determine which morphologic abnormalities of the distal rectum accompany ARMs. Three other cases showed normal neuromuscular morphology; 9 further cases could not be evaluated owing to scanty biopsies. All resected specimens were caudocranially coiled and cryostat cut at -20 degrees C into serial sections, which were stained with a lactic dehydrogenase, succinic dehydrogenase, nitroxide synthase, and acetylcholinesterase reaction as well as hemalum and sirius red. Ten low, 15 intermediate, and 10 high forms of anal atresia (AA) were studied. In addition, six cloacal abnormalities were investigated. In 7 cases (17%) (5 intermediate, 2 low AAs), the characteristics of Hirschsprung's disease were observed. Oligoneuronal hypoganglionosis of the myenteric plexus proximal to the anal floor was diagnosed in 7 AAs (12%). In 10 children with high-type AA and resection of 1-5 cm distal rectum and in all cloacal anomalies (n = 6) defects of the muscularis propria were seen in the rectal-atresia sac. These defects were characterized by hypoplasia of the circular-muscle layer and/or the internal anal sphincter (IAS). Intestinal neuronal dysplasia of the submucous plexus was most frequently observed (12%) in high-type AA. A correlation between innervation anomalies or anomalies of the muscularis propria and the type of fistula could not be seen. In conclusion, all cases with high-type AA and cloacal anomalies were characterized by anomalies of the muscularis propria and/or IAS but this was not the case in intermediate and low-type AAs. Anomalies of the enteric nervous system were diagnosed in 60% of AAs.

  11. Histopathologic profile of esophageal atresia and ...

    African Journals Online (AJOL)

    esophageal motility after successful repair of esophageal atresia (EA) and ... tissue were observed in only three LP specimens. Gastric- ... type of muscle fibers was identified. Muscles were examined for fibrosis and/or abnormally seated glands, ducts, or cartilage. Sections were also examined for the. Original article 1.

  12. Dysphagia in children with repaired oesophageal atresia

    NARCIS (Netherlands)

    Coppens, C.H.; Engel-Hoek, L. van den; Scharbatke, H.E.; Groot, S.A. de; Draaisma, J.M.T.

    2016-01-01

    Dysphagia is a common problem in children with repaired oesophageal atresia (OA). Abnormalities in the oropharyngeal and oesophageal phase have hardly been studied. The aims of this study were to assess the prevalence of dysphagia in children with repaired OA and to identify and differentiate oral

  13. Congenital pyloric atresia: clinical features, diagnosis, associated ...

    African Journals Online (AJOL)

    Congenital pyloric atresia: clinical features, diagnosis, associated anomalies, management and outcome. ... Conclusion: CPA is a very rare malformation that can be familial and inherited as an autosomal recessive. It can either occur as an isolated lesion with an excellent prognosis, or be associated with other anomalies.

  14. ETIOLOGY, PATHOGENESIS AND MORPHOLOGY OF BILIARY ATRESIA

    Directory of Open Access Journals (Sweden)

    O. E. Iryshkin

    2012-01-01

    Full Text Available Biliary atresia is an inflammatory fibrosing process, which invades both extrahepatic and intrahepatic bile ducts. There are two forms of biliary atresia: embryonic form, associated with another visceral malformations, and perinatal form, which is an isolated disease. Biliary atresia is a heterogeinc disease which may appear as a result of different etiological factors, the most important of them are genetics, viral infection, vascular factors, toxins and disregulation of immune system. The characteristic morphological features of biliaryatresia are: intracellular and ductular cholestasis, ductular proliferation, giant cell transformation, portal and perilobular oedema and/or fibrosis. As the patalogical process progresses, ductopenia appears, and fibrosis turns to cirrhosis. Embryonic form mophologically manifests with ductal plate malformation is, what is an important diagnostic criterion. Pro- gnosis of biliary atresia depends on form of disease, age of patient and type of surgical operation. Today surgical treatment includes two steps: palliative portoenterostomia, performed in neonatal period and further liver trans- plantation. However liver transplantation is more preferable as first and single-step treatment. 

  15. Histopathologic profile of esophageal atresia and ...

    African Journals Online (AJOL)

    Purpose Few reports are available in the literature on the histology of the congenital atretic esophagus in humans. Histologic abnormalities including congenital esophageal stenosis (CES) may contribute toward the abnormal esophageal motility after successful repair of esophageal atresia (EA) and tracheoesophageal ...

  16. Esophageal atresia with tracheoesophageal fistula and early ...

    African Journals Online (AJOL)

    Background: Several recent reports showed that associated anomalies represent the main cause of postoperative mortality in infants born with esophageal atresia (EA) and/or tracheoesophageal fistula (TEF). Our observations present additional causes of mortality to the above mentioned. The aim of this study is to identify ...

  17. Associated anomalies in cases with esophageal atresia.

    Science.gov (United States)

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

    2017-08-01

    Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 116 cases with esophageal atresia, representing a prevalence of 2.99 per 10,000, 54 (46.6%) had associated anomalies. There were 9 (7.8%) cases with chromosomal abnormalities including 6 trisomies 18, and 20 (17.2%) nonchromosomal recognized dysmorphic conditions including 12 cases with VACTERL association and 2 cases with CHARGE syndrome. Twenty five (21.6%) of the cases had multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the digestive, the urogenital, the musculoskeletal, and the central nervous systems were the most common other anomalies. The anomalies associated with esophageal atresia could be classified into a recognizable malformation syndrome or pattern in 29 out of 54 cases (53.7%). This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, which was close to one in two cases, emphasizes the need for a thorough investigation of cases with EA. A routine screening for other anomalies may be considered in infants and in fetuses with EA. © 2017 Wiley Periodicals, Inc.

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

    Science.gov (United States)

    Sadreameli, Sara C.; McGrath-Morrow, Sharon A.

    2015-01-01

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

  19. Sonographic diagnosis and clinical significance of umbilical arterial atresia.

    Science.gov (United States)

    Ren, Jinhe

    2017-05-01

    To evaluate the feasibility of antenatal sonographic diagnosis of umbilical arterial atresia and its clinical significance. Data of 5 cases with umbilical arterial atresia diagnosed in our hospital were studied retrospectively. The antenatal ultrasonogram of umbilical arterial atresia was obtain, and the pathological examination of umbilical cords and the prognosis of neonates were analyzed. Among 5 cases with umbilical arterial atresia in this group, 1 case with double umbilical arterial atresia was found with dead fetus in uterus, and the rest 4 cases with single umbilical arterial atresia were found with survival fetuses. In the latter 4 cases with live fetus, once umbilical arterial atresia was diagnosed, cesarean section was performed to terminate pregnancy, and the 4 fetus were all healthy. The chromosome karyotypes and S/D value of umbilical arteries were showed normal in all 5 cases. Accurate antenatal diagnosis can be made according to the specific ultrasonogram of umbilical arterial atresia. Instant intervention should be performed upon observing umbilical arterial atresia with live fetus, so as to avoid dead fetus as much as possible.

  20. Acute Mastoiditis in a Newborn with Aural Atresia

    Directory of Open Access Journals (Sweden)

    K. Parpounas

    2012-01-01

    Full Text Available Acute mastoiditis in the newborn is a very rare disease. Herein we report a case of a 28-day-old child with right aural atresia and ipsilateral mastoiditis requiring mastoidectomy. To our knowledge, this is the youngest case reported in the literature. Issues on diagnosis and management of mastoiditis in cases of aural atresia are further discussed. Based on our experience and on previous reported cases we conclude that mastoiditis is difficult to diagnose in a child with aural atresia. Moreover, mastoidectomy may be necessary, although identification of the facial nerve and consequent treatment of the atresia are usually too difficult to perform simultaneously.

  1. Acute mastoiditis in a newborn with aural atresia.

    Science.gov (United States)

    Parpounas, K; Bouka, K; Athanasopoulos, J; Lamprou, M; Helmis, G; Vlastos, I M

    2012-01-01

    Acute mastoiditis in the newborn is a very rare disease. Herein we report a case of a 28-day-old child with right aural atresia and ipsilateral mastoiditis requiring mastoidectomy. To our knowledge, this is the youngest case reported in the literature. Issues on diagnosis and management of mastoiditis in cases of aural atresia are further discussed. Based on our experience and on previous reported cases we conclude that mastoiditis is difficult to diagnose in a child with aural atresia. Moreover, mastoidectomy may be necessary, although identification of the facial nerve and consequent treatment of the atresia are usually too difficult to perform simultaneously.

  2. Familial recurrence of urethral stenosis/atresia.

    Science.gov (United States)

    Siebert, Joseph R; Walker, Martin P R

    2009-08-01

    We report the familial recurrence of urethral stenosis/atresia in two sibling fetuses with bladder outlet obstruction, severe oligohydramnios, and pulmonary hypoplasia. Urethral obstruction in the fetus, when severe, results in a dilated urinary bladder (megacystis) and associated urinary anomalies (hydroureter, hydronephrosis, renal dysplasia). Distention of the fetal abdomen, the result of megacystis or urinary ascites, leads to stretching and eventually hypoplasia or even absence of abdominal muscles. This constellation of findings, known by a variety of terms including "prune belly" syndrome, is associated with a variety of urethral changes, including posterior urethral valves and urethral stenosis/atresia. One fetus manifested unilateral postaxial polydactyly of the left hand. A microdeletion of 6p25.3, identified in mother and one fetus, is not associated with a gene known to be involved in urethral development and therefore of unknown significance. (c) 2009 Wiley-Liss, Inc.

  3. Chronic Pulmonary Aspergillosis Complicating Bronchial Atresia

    Directory of Open Access Journals (Sweden)

    Mazen O. Al-Qadi

    2014-01-01

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

  4. Ultrasonographic findings of type IIIa biliary atresia

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Seung Seob; Kim, Myung Joon; Lee, Mi Jung; Yoon, Choon Sik; Han, Seok Joo; Koh, Hong [Dept. of Radiology, Research Institute of Radiological Science, Severance Hospital, Yensei University College of Medicine, Seoul (Korea, Republic of)

    2014-12-15

    To describe the ultrasonographic (US) findings of type IIIa biliary atresia. We retrospectively reviewed a medical database of patients pathologically confirmed to have biliary atresia, Kasai type IIIa, between January 2002 and May 2013 (n=18). We evaluated US findings including the visible common bile duct (CBD), triangular cord thickness, gallbladder size and shape, and subcapsular flow on color Doppler US; laboratory data; and pathological hepatic fibrosis grades. We divided them into two groups-those with visible (group A) and invisible (group B) CBD on US-and compared all parameters between the two groups. CBD was visible on US in five cases (27.8%; group A) and invisible in 13 cases (72.2%; group B). US was performed at an earlier age in group A than in group B (median, 27 days vs. 60 days; P=0.027) with the maximal age of 51 days. A comparison of the US findings revealed that the triangular cord thickness was smaller (4.1 mm vs. 4.9 mm; P=0.004) and the gallbladder length was larger (20.0 mm vs. 11.7 mm; P=0.021) in group A. The gallbladder shape did not differ between the two groups, and the subcapsular flow was positive in all cases of both groups. There was no significant difference in the laboratory data between the two groups. Upon pathological analysis, group A showed low-grade and group B showed low- to high-grade hepatic fibrosis. When CBD is visible on US in patients diagnosed with type IIIa biliary atresia, other US features could have a false negative status. A subcapsular flow on the color Doppler US would be noted in the type IIIa biliary atresia patients.

  5. Ultrasonographic findings of type IIIa biliary atresia

    International Nuclear Information System (INIS)

    Kim, Seung Seob; Kim, Myung Joon; Lee, Mi Jung; Yoon, Choon Sik; Han, Seok Joo; Koh, Hong

    2014-01-01

    To describe the ultrasonographic (US) findings of type IIIa biliary atresia. We retrospectively reviewed a medical database of patients pathologically confirmed to have biliary atresia, Kasai type IIIa, between January 2002 and May 2013 (n=18). We evaluated US findings including the visible common bile duct (CBD), triangular cord thickness, gallbladder size and shape, and subcapsular flow on color Doppler US; laboratory data; and pathological hepatic fibrosis grades. We divided them into two groups-those with visible (group A) and invisible (group B) CBD on US-and compared all parameters between the two groups. CBD was visible on US in five cases (27.8%; group A) and invisible in 13 cases (72.2%; group B). US was performed at an earlier age in group A than in group B (median, 27 days vs. 60 days; P=0.027) with the maximal age of 51 days. A comparison of the US findings revealed that the triangular cord thickness was smaller (4.1 mm vs. 4.9 mm; P=0.004) and the gallbladder length was larger (20.0 mm vs. 11.7 mm; P=0.021) in group A. The gallbladder shape did not differ between the two groups, and the subcapsular flow was positive in all cases of both groups. There was no significant difference in the laboratory data between the two groups. Upon pathological analysis, group A showed low-grade and group B showed low- to high-grade hepatic fibrosis. When CBD is visible on US in patients diagnosed with type IIIa biliary atresia, other US features could have a false negative status. A subcapsular flow on the color Doppler US would be noted in the type IIIa biliary atresia patients.

  6. Fibrous incudostapedial joint in congenital aural atresia.

    Science.gov (United States)

    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 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.

  7. Transjugular Intrahepatic Portosystemic Shunts in Children with Biliary Atresia

    International Nuclear Information System (INIS)

    Huppert, Peter E.; Goffette, Pierre; Astfalk, Wolfgang; Sokal, Emil M.; Brambs, Hans-Juergen; Schott, Ullrich; Duda, Stephan H.; Schweizer, Paul; Claussen, Claus D.

    2002-01-01

    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

  8. Isolated ascites in a newborn with 'apple peel' jejunal atresia.

    Science.gov (United States)

    Osmulikevici, Otilia; Renji, Elizabeth; Jaffray, Bruce; Embleton, Nicholas

    2017-10-03

    Isolated fetal ascites was diagnosed at 20 weeks in a primiparous woman with no significant medical history. Progressive fetal ascites worsened after 28 weeks and resulted in fetal hydroceles. Delivery was by caesarian section at 33 weeks, preceded by reduction of fetal ascites under ultrasound guidance. Following delivery, the baby required further reduction of abdominal fluid and endotracheal intubation to provide respiratory support. An extensive set of investigations, including metabolic and genetic screening, was performed; all results were negative. On day two of life, the baby developed bilious aspirates and an abdominal radiograph suggested intestinal obstruction. At laparotomy, an 'apple peel' jejunal atresia, abnormal mesentery with precarious blood supply and a proximal perforation were identified and the perforation 'sewn over'. The postoperative course was unremarkable, with Monogen feeds tolerated three weeks later. The baby continued to thrive at one year, tolerating increasing amount of long-chain fatty acids in diet. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  9. Congenital biliary atresia: liver injury begins at birth

    DEFF Research Database (Denmark)

    Makin, Erica; Quaglia, Alberto; Kvist, Nina

    2009-01-01

    BACKGROUND: The timing of onset of liver injury in biliary atresia (BA) is not known, although in approximately 10% of cases, biliary pathologic condition associated with the biliary atresia splenic malformation syndrome must begin well before birth. METHODS: The study involved retrospective case...

  10. Ileocecal valve atresia: Introduction of a new surgical approach ...

    African Journals Online (AJOL)

    Ileocecal valve atresia is a very rare anomaly with only a few cases reported in the literature. The conventional therapy includes ileocecal resection and ileocolic anastomosis. Here, we present a patient with inborn ileocecal valve atresia in whom we successfully preserved the ileocecal valve and the terminal ileum through ...

  11. Biliary atresia associated with choledochal cyst | Obaidah | African ...

    African Journals Online (AJOL)

    Choledochal cyst and biliary atresia are rare but important causes of neonatal jaundice. Both present with jaundice and acholic stool in neonatal period. Treatment and prognosis of both entities are very different. We are presenting a case in which choledochal cyst co-existed with biliary atresia; the antenatal diagnosis was ...

  12. Esophageal Replacement for Long-Gap Esophageal Atresia in a ...

    African Journals Online (AJOL)

    The management of esophageal atresia in a resourcelimited environment is plagued with challenges that often lead to poor outcome. The diagnosis and management of babies with long-gap esophageal atresia adds a new dimension to these challenges. We report the success of esophageal replacement surgery for a ...

  13. Jejunum for bridging long-gap esophageal atresia

    NARCIS (Netherlands)

    Bax, Klaas (N) M. A.

    OBJECTIVE: Exploring pros and cons of bridging long-gap esophageal atresia with an orthotopic jejunal pedicle graft. Retrospective series of 19 patients. METHODS: From 1988 through 2005, 19 patients with long-gap esophageal atresia received a jejunal graft. Median age at reconstruction was 76 days.

  14. Rectal Atresia and Congenital Hypothyroidism: An Association or Coincidence?

    Science.gov (United States)

    Mehmetoğlu, Feride

    2018-01-01

    Rectal atresia is a rare anorectal malformation, and its association with other anomalies is even more rare. This study presents a unique case of co-twin in which the surviving newborn male underwent surgery due to rectal atresia. Newborn screening tests identified congenital hypothyroidism. The surgical treatment consisted of three stages and thyroid hormones were replaced. PMID:29326865

  15. Esophageal atresia: our experiences in a university hospital ...

    African Journals Online (AJOL)

    Introduction and aim Esophageal atresia is a relatively common congenital malformation occurring one in 2500–3000 live births. The aim of this study was to determine the frequency, type of anomaly, and mortality and to detect the associated anomaly in patients with esophageal atresia. Patients and methods All neonates ...

  16. Ovarian atresia in cephalopods | Melo | African Journal of Marine ...

    African Journals Online (AJOL)

    Ovarian atresia is described for the first time in cephalopods. Detailed histological examination of ovaries of Loligo vulgaris reynaudii in various stages of maturity revealed atresia in primary, previtellogenic and vitellogenic oocytes. These were analysed separately. Previtellogenic and vitellogenic oocytes could be ...

  17. Situs inversus in association with duodenal atresia | Talabi | African ...

    African Journals Online (AJOL)

    Situs inversus in association with duodenal atresia is very rare. A high index of suspicion coupled with appropriate evaluation is necessary for diagnosis and operative planning. We report a case of a 5-day-old who presented with duodenal atresia associated with polysplenia and situs inversus with a review of the medical ...

  18. Alagille Syndrome Mimicking Biliary Atresia in Early Infancy

    Science.gov (United States)

    Dědič, Tomáš; Jirsa, Milan; Keil, Radan; Rygl, Michal; Šnajdauf, Jiri; Kotalová, Radana

    2015-01-01

    Alagille syndrome may mimic biliary atresia in early infancy. Since mutations in JAG1 typical for Alagille syndrome type 1 have also been found in biliary atresia, we aimed to identify JAG1 mutations in newborns with proven biliary atresia (n = 72). Five biliary atresia patients with cholestasis, one additional characteristic feature of Alagille syndrome and ambiguous liver histology were single heterozygotes for nonsense or frameshift mutations in JAG1. No mutations were found in the remaining 67 patients. All “biliary atresia” carriers of JAG1 null mutations developed typical Alagille syndrome at the age of three years. Our data do not support association of biliary atresia with JAG1 mutations, at least in Czech patients. Rapid testing for JAG1 mutations could prevent misdiagnosis of Alagille syndrome in early infancy and improve their outcome. PMID:26618708

  19. Biliary atresia: From Australia to the zebrafish.

    Science.gov (United States)

    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. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. Unilateral pulmonary vein atresia: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, So Hwa; Kim, Ki Jun [Dept. of Radiology, Incheon St. Mary' s Hospital, The Catholic University of Korea College of Medicine, Incheon (Korea, Republic of)

    2014-01-15

    Unilateral pulmonary vein atresia is a rare congenital anomaly. Its symptoms begin to manifest in childhood and a broad spectrum of clinical severity has been described, ranging from asymptomatic, recurrent pulmonary infection, severe hemoptysis, to death. Only a few adult cases with this condition, with no or mild symptoms, have been reported. Pulmonary angiography has been typically used for definite diagnosis. However, pulmonary angiography may be replaced with the current developing multidetector CT. This report presents an adult case with mild symptoms, diagnosed by multidetector CT.

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

    Science.gov (United States)

    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.

  2. Extrahepatic biliary atresia in a border collie.

    Science.gov (United States)

    Schulze, C; Rothuizen, J; van Sluijs, F J; Hazewinkel, H A; van den Ingh, T S

    2000-01-01

    Progressive lameness and leg pain were the predominant clinical signs in a 17-week-old male border collie presented for examination. On clinical investigation, extrahepatic cholestasis in association with rickets due to inadequate vitamin D resorption was diagnosed. The dog was treated parenterally with vitamin D and a cholecystoduodenostomy was performed. At 25 days postsurgery the lameness had resolved and bone structure was radiographically normal. However, at six weeks postsurgery, the dog's condition deteriorated rapidly and euthanasia was finally performed at eight weeks postsurgery. At postmortem examination, Toxocara canis nematodes were found to have invaded the biliary system via the anastomosis between the gallbladder and duodenum, causing biliary and hepatic toxocariasis. The cause of the primary extrahepatic cholestasis was atresia of the common bile duct at the hepatic end. The liver tissue showed microscopic lesions of chronic extrahepatic cholestasis as well as acute inflammation associated with the nematode invasion. There was no postmortem evidence of bone lesions. Extrahepatic biliary atresia is extremely rare in animals and has not been described before in dogs. In contrast, it represents the most common cause of congenital cholestasis in children, occurring in approximately one per 10,000 to 15,000 live births.

  3. Oesophageal atresia: Are "long gap" patients at greater anesthetic risk?

    Science.gov (United States)

    Powell, Laura; Frawley, Jacinta; Crameri, Joe; Teague, Warwick J; Frawley, Geoff P

    2018-03-01

    Long gap oesophageal atresia occurs in approximately 10% of all oesophageal atresia infants and surgical repair is often difficult with significant postoperative complications. Our aim was to describe the perioperative course, morbidity, and early results following repair of long gap oesophageal atresia and to identify factors which may be associated with complications. This is a single center retrospective cohort study of consecutive patients with oesophageal atresia undergoing surgical repair at The Royal Children's Hospital Melbourne from January 2006 to June 2017. Two hundred and thirty-nine consecutive oesophageal atresia infants included 44 long gap oesophageal atresia infants and 195 non-long gap infants. A high rate of prematurity (24.7%), major cardiac (17%), and other surgically relevant malformations (12.6%) was found in both groups. The median age at oesophageal anastomosis surgery was 65.5 days for the long gap group vs 1 day for the oesophageal atresia group (mean difference 56.8 days, 95% CI 48.1-65.5 days, P atresia included immediate primary anastomosis (n = 10), delayed primary anastomosis (n = 11), oesophageal lengthening techniques (n = 12) and primary oesophageal replacement (n = 6). Long gap oesophageal atresia was not associated with an increased incidence of difficult intubation (OR 2.8, 95% CI 0.6-22.1, P = .17), intraoperative hypoxemia (OR 1.6, 95% CI 0.6-4.5, P = .32), or hypotension (OR 0.9, 95% CI 0.5-1.8, P = .81). The surgical duration (177.7 vs 202.1 minute, mean difference [95% CI], 28 [5.5-50.4 minutes], P = .04) and mean duration of postoperative mechanical ventilation (107 vs 199.8 hours, mean difference [95% CI], 91.8 [34.5-149.1 hours], P atresia OR 1.1, 95% CI 0.4-3.4, P = .85). Long gap oesophageal atresia infants have a similar incidence of perioperative complications to other infants with oesophageal atresia. Current surgical approaches to long gap repair, however, are associated with longer

  4. Tricuspid atresia associated with aortopulmonary window: diagnostic and therapeutic dilemmas.

    Science.gov (United States)

    Milovanovic, Vladimir; Stefanovic, Igor; Ilic, Slobodan

    2017-04-01

    The association of tricuspid atresia with aortopulmonary window is exceptionally rare. We report a patient with tricuspid atresia, normally related great arteries, non-restrictive ventricular septal defect, and no pulmonary stenosis (type IC) with an aortopulmonary window who underwent successful initial surgical palliation. The unique anatomical feature of this case, other than the presence of the aortopulmonary window, was the absence of pulmonary stenosis at the level of either the ventricular septal defect or the pulmonary valve. All other reported cases have described some degree of restriction of anterograde pulmonary flow due to pulmonary stenosis or atresia.

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

    Science.gov (United States)

    Ambrosio, Art; Magit, Anthony

    2012-11-01

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

  6. Clinical features and surgical procedures of congenital vaginal atresia-A retrospective study of 67 patients.

    Science.gov (United States)

    Xie, Zhihong; Zhang, Xiaoping; Zhang, Ningzhi; Xiao, Hong; Liu, Yongying; Liu, Jiandong; Chen, Lili; Li, Liang; Zhang, Linlin; Zhang, Youguo

    2017-10-01

    To explore the characteristics of congenital vaginal atresia, further improve its classification, and therefore help the clinical diagnosis and treatment of congenital vaginal atresia. This was a retrospective study of 67 patients with congenital vaginal atresia (from March 1984 to March 2015). Clinical and surgical characteristics were analyzed. For lower vaginal atresia, 25 patients successfully underwent vaginoplasty at the lower portion of the vagina. For complete vagina atresia, 25 patients with type i cervical atresia were treated with artificial vaginoplasty+tracheloplasty, and all showed no dysmenorrhea within six months after surgery. Four patients with type ii cervical atresia and two patients with type iii cervical atresia successfully underwent hysterectomy+artificialvaginoplasty. Two patients with type iv cervical atresia underwent combined abdominoperineal artificial vaginoplasty+tracheloplasty. One patient with upper vaginal atresia successfully underwent hysterectomy via the narrow segment of the cervix. Three patients with top vaginal atresia had no dysmenorrhea after transvaginaltracheloplasty. This study suggests two new categories of vaginal atresia (upper vaginal atresia and top vaginal atresia), which could be used as a reference for treatment of this condition. Appropriate treatments were performed using a personalized approach and satisfactory results were achieved. Copyright © 2017. Published by Elsevier B.V.

  7. Liver transplantation in children with biliary atresia and polysplenia syndrome.

    Science.gov (United States)

    Broniszczak, Dorota; Apanasiewicz, Artur; Czubkowski, Piotr; Kaliciński, Piotr; Ismail, Hor; Ostoja-Chyzynska, Anna; Markiewicz-Kijewska, Malgorzata

    2011-01-01

    Children with biliary atresia and polysplenia syndrome (BA-PS) have always been considered as high risk liver transplant recipients due to technical problems during transplant surgery. We report single-center experience with liver transplantation in children with this syndrome. Between 2000 and 2010, 401 liver transplantations were performed in 358 children, including 6 patients with BA-PS, who underwent living (5 patients) or deceased (1 patient) donor liver transplantation. Patients demonstrated various malformations: absence of retrohepatic vena cava (3), intestinal malrotation (3), preduodenal portal vein (1), hepatic artery anomalies (3), cardiac anomalies (2), and situs inversus (1). Transplantations were performed at the patient age of 8 months to 11 years. There were no serious technical problems during the operations, and we did not have to use vascular conduits for graft revascularization in any case. All patents were alive at follow-up between 14 and 123 months after transplantation (mean 75 months). We observed, however, increased incidence of PV thrombosis and biliary complications in these patients, which did not influence patient and graft survival. In 1 child with graft failure due to chronic rejection after discontinuation of immunosuppression due to PTLD, retransplantation was performed. Results of liver transplantation in children with BA-PS are as good as for other indications and non-syndromic BA in an experienced pediatric liver transplant center. Although there were no serious technical problems during deceased or living related donor transplantation in these children, close observation for possible vascular complications should be the routine in the postoperative period.

  8. European biliary atresia registries: summary of a symposium

    DEFF Research Database (Denmark)

    Petersen, C.; Harder, D.; Abola, Z.

    2008-01-01

    Biliary atresia (BA) is a rare but potentially devastating disease. The European Biliary Atresia Registry (EBAR) was set up to improve data collection and to develop a pan-national and interdisciplinary strategy to improve clinical outcomes. From 2001 to 2005, 100 centers from 22 countries...... registered with EBAR via its website (www.biliary-atresia.com). In June 2006, the first meeting was held to evaluate results and launch further initiatives. During a 5-year period, 60 centers from 19 European countries and Israel sent completed registration forms for a total of 514 BA patients. Assuming......, centralization of surgery). In conclusion, EBAR represents the first attempt at an overall evaluation of the outcome of BA from a pan-European perspective. The natural history and outcome of biliary atresia is of considerable relevance to a European population. It is essential that there is further support...

  9. Problems related to cytomegalovirus infection and biliary atresia ...

    African Journals Online (AJOL)

    , being cholestatic in its own right. It has also been associated with intrahepatic bile duct destruction and duct paucity, indicating a possible role in the pathogenesis and progression of extrahepatic biliary atresia (BA). BA patients who are ...

  10. Choanal atresia and secondary nasopharyngeal stenosis in a dog.

    Science.gov (United States)

    Coolman, B R; Marretta, S M; McKiernan, B C; Zachary, J F

    1998-01-01

    A 20-month-old, intact male shih tzu was evaluated for chronic upper airway disease. Endoscopic examination established a diagnosis of choanal atresia, a developmental anomaly of the posterior nasal cavity. Although surgical intervention provided temporary relief, stenosis of the nasopharynx by obstructive scar tissue was confirmed within four weeks. A permanent tracheostomy provided long-term relief of the respiratory difficulty. This is the first report of choanal atresia or nasopharyngeal stenosis in a dog.

  11. Pulmonary valvuloplasty for pulmonary atresia-restrictive ventricular septal defect.

    Science.gov (United States)

    Reshmi, Liza Jose; Gadhinglajkar, Shrinivas; Mathew, Thomas; Venkateshwaran, Subramanian; Sreedhar, Rupa; Dharan, Baiju

    2016-02-01

    Pulmonary atresia with restrictive ventricular septal defect is a rare congenital cardiac anomaly. A Blalock-Taussig shunt and surgical perforation of the atretic pulmonary valve is often performed as the initial palliation. We present our experience of utilizing both transesophageal and epicardial echocardiography during surgical pulmonary valvuloplasty in a 22-day-old neonate with pulmonary atresia with restrictive ventricular septal defect. The atretic pulmonary valve was perforated using a sheath introduced through the pulmonary artery. © The Author(s) 2014.

  12. Biliary Atresia: Cellular Dynamics and Immune Dysregulation

    Science.gov (United States)

    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

  13. Perinatal Survival of a Fetus with Intestinal Volvulus and Intussusception: A Case Report and Review of the Literature

    OpenAIRE

    Ohuoba, Esohe; Fruhman, Gary; Olutoye, Oluyinka; Zacharias, Nikolaos

    2013-01-01

    Fetal intestinal volvulus is a rare life-threatening condition. Late diagnosis of volvulus contributes to high rate of morbidity and mortality. It has variable degrees of presentation and survival. Intrauterine volvulus may be complicated by intestinal atresia due to ischemic necrosis. To our knowledge, there are three reported cases of term fetal demise. We report a case of fetal intestinal volvulus with perinatal survival of the largest term infant described with this complication to date. ...

  14. Utility of Tc99m-Mebrofenin hepato-biliary scintigraphy (HIDA scan) for the diagnosis of biliary atresia.

    Science.gov (United States)

    Shah, Ira; Bhatnagar, Sushmita; Rangarajan, Venkatesh; Patankar, Nikhil

    2012-01-01

    To determine the utility of Tc99m-Mebrofenin hepato-biliary scintigraphy (HIDA scan) for diagnosis of biliary atresia in patients with neonatal cholestasis. Our study involves the retrospective analysis of 46 patients with neonatal cholestasis who underwent HIDA scans at the Pediatric Hepatobiliary Clinic, BJ Wadia Hospital for Children from May 2005 to July 2007. Biliary atresia (BA) was diagnosed on the basis of intra-operative cholangiogram. Non-BA patients were included in the neonatal hepatitis (NH) group. All patients received phenobarbitone and ursodeoxycholic acid for 5 days, prior to the HIDA scan. The HIDA scan was evaluated on the basis of uptake of the radioactive tracer by the liver at 5 minutes after intravenous injection; retention of radioactive tracer within the liver at 24 hours after injection and visualization of excretion of tracer into the intestine upto 24 hours after administration. The results of the HIDA scans were analyzed and correlated with the final diagnosis, gender and age of the patients. Chi-square test was employed for statistical analysis. The age of presentation of our patients ranged from 5 days to 6 months. The male: female ratio was 37:9. Of the total 46 patients, 28 had BA and 18 had NH. All 28 (100%) patients diagnosed with BA showed persistent radiotracer in the liver at 24 hours whereas 17 (94.4%) of the 18 NH patients showed hepatic radiotracer retention (p = 0.207), the difference being statistically insignificant. Twenty two (78.6%) patients of BA showed no excretion of the radiotracer at 24 hours whereas only 7 (38.9%) of the NH group did not excrete the radiotracer (p = 0.007), which was statistically significant. Neither the sex nor the age of the child contributed to any difference on the hepatic retention (p = 0.618 and 0.235, respectively) or on the intestinal excretion (p = 0.307 and 0.9, respectively) of the radiotracer. HIDA scan is a useful tool for screening of biliary atresia in patients with neonatal

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

    NARCIS (Netherlands)

    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:

  16. Intestinal Cancer

    Science.gov (United States)

    ... connects your stomach to your large intestine. Intestinal cancer is rare, but eating a high-fat diet ... increase your risk. Possible signs of small intestine cancer include Abdominal pain Weight loss for no reason ...

  17. Duodenal Derotation and Extent Tapering Jejunoplasty as Primary Repair for Neonates With High Jejunal Atresia

    Directory of Open Access Journals (Sweden)

    Chih-Cheng Luo

    2010-10-01

    Conclusion: In very proximal high atresia, the extent of tapering is limited by the proximity of the ligament of Treitz. Duodenal derotation provides better access to the high atresia. The results of this limited experience suggest that the DDETJ procedure could provide an alternative therapy in patients with high jejunal atresia.

  18. Excellent long-term outcome for survivors of apple peel atresia

    NARCIS (Netherlands)

    Festen, S; Brevoord, JCD; Goldhoorn, GA; Festen, C; Hazebroek, FWJ; van Heurn, LWE; de Langen, ZJ; van der Zee, DC; Aronson, DC

    Background: Apple peel atresia is the rarest type of small bowel atresia. Because of its rare occurrence and high mortality rate, little is known about the long-term outcome of these children. Methods: The patient charts, operative reports, and office notes of 15 children with apple peel atresia

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

    Science.gov (United States)

    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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Alamo, Leonor; Meuli, Reto [University Hospital of Lausanne (CHUV) and University of Lausanne (UNIL), Department of Diagnostic and Interventional Radiology, Lausanne (Switzerland); Vial, Yvan [University Hospital of Lausanne (CHUV) and University of Lausanne (UNIL), Department of Obstetrics and Gynecology, Lausanne (Switzerland); Gengler, Carole [University Hospital of Lausanne (CHUV) and University of Lausanne (UNIL), Department of Pathology, Lausanne (Switzerland)

    2016-03-15

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

  1. Computer-aided surgical planning for congenital aural atresia

    Science.gov (United States)

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

    2000-04-01

    We have designed and implemented a prototype system to aid in the surgical repair of congenital aural atresia. A two- level segmentation algorithm was first developed to separate tissues of similar intensity or low tissue contrast. Then an interactive visualization modular was built to display the labeled tissues. The system allows a 3-stage interactive planning in which positioning, marking and drilling simulates the surgical operation of congenital atresia repair. A voxel-based volume CSG operation was implemented to ensure the efficiency of interactive planning. Six patients with congenital aural atresia underwent virtual planning in preparation for surgery. This technique has proved to be a valuable planning tool, with the potential for virtual representation of the surgical reconstruction.

  2. Somatic mutation, a cause of biliary atresia: A hypothesis.

    Science.gov (United States)

    Fabre, Alexandre; Roman, Céline; Roquelaure, Bertrand

    2017-05-01

    Despite many years of research, the causes of biliary atresia still remain elusive. Infection, immune disorder, toxins or maternal microchimerism have been cited as potential triggers of biliary atresia. This is a rare disease with a stable incidence over the years although with sizeable ethnic variations. This stability suggests that environmental factors have in fact only a slight influence. During the search for etiologies, twin studies have often helped disentangle the genetic from the environmental. For this condition, twin studies have mainly demonstrated a lack of concordance between twins (either monozygotic or dizygotic), ruling out Mendelian, infectious or toxic causes. Indeed, for toxic or infectious embryopathy, the concordance for twins (especially monozygotic) is about 80%. Paradoxically, these data suggest that biliary atresia has neither a genetic nor an environmental cause. One way of severing the Gordian knot is to hypothesize a role for post zygotic somatic mutation, leading to genetic mosaicism (as a cause of biliary atresia). In recent years, post zygotic mutation has been identified as a cause of non-cancerous disease ranging from dysmorphic syndrome to specific organ abnormalities. A potential model for this condition could be post zygotic mutation or copy number variations in genes or regulatory regions, triggering the cascade of events leading to inflammatory and obliterative cholangiopathy. These events could be enhanced by genetic susceptibility explaining the ethnic variations. In these models, the rate of mosaicism in different parts of the liver could explain the success rate of the Kasai procedure. This hypothesis can be tested: as most children with biliary atresia are eligible for the Kasai procedure, genetic material from the liver and ductal plate can be collected easily. If the hypothesis is correct, whole genome sequencing or copy number variation studies at individual cell level should allow to identify the expected low level

  3. Concavo-convex oblique anastomosis technique for jejuno ileal atresia

    Directory of Open Access Journals (Sweden)

    Hasan Zaheer

    2009-01-01

    Full Text Available Aim: To evaluate the role of end-to-end oblique bowel anastomosis in bowel atresia. Methods: End-to-end oblique anastomosis was done in 25 neonates of bowel atresia and the results were compared with traditional method of end to back anastomosis in 25 cases. Results: We found less mortality and morbidity (5% in our technique as compared to end to back technique (20%. Conclusions: We recommend this technique, as anastomosis is wide with less angulations, flow of effluent is linear, and there is less force exerted over post-anastomotic side wall.

  4. Biliary atresia and cerebellar hypoplasia in polysplenia syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Vanderdood, Kurt; Op de Beeck, Bart; Desprechins, Brigitte; Osteaux, Michel [Department of Radiology, Free University Brussels, AZ-VUB, Laarbeeklaan 101, 1090 Brussels (Belgium)

    2003-09-01

    We report a 3.5-month-old boy with polysplenia syndrome who demonstrated hemiazygos continuation of the inferior vena cava, extrahepatic biliary atresia, multiple splenunculi, bowel malrotation, and the rare finding of brainstem and cerebellar hypoplasia. A possible pathogenesis for cerebellar hypoplasia in this syndrome is suggested after review of the literature. The importance of seeking associated anomalies in biliary atresia, which may be possible indicators of polysplenia syndrome, is stressed since these patients need appropriate management when surgery is considered. (orig.)

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

    Science.gov (United States)

    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.

  6. Partial Cervical Agenesis and Complete Vaginal Atresia.

    Science.gov (United States)

    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.

  7. Radiological evaluation of intestinal obstruction in neonate and infant

    International Nuclear Information System (INIS)

    Jeon, D. S.; Lim, K. Y.; Kim, S. J.; Kim, J. D.; Rhee, H. S.

    1980-01-01

    281 cases of neonatal and infantile intestinal obstruction confirmed by clinical and surgical procedure from 1975 till 1979 were reviewed radiologically. The result was as follows; 1. Intussusception was the most common cause of intestinal obstruction under one year of age (173/281: 61.56%), and other causes of descending order were infantile hypertrophic pyloric stenosis (20: 7.11%), congenital megacolon (19: 6.76%), anorectal malformation (17: 6.05%), meconium plug syndrome (17: 6.05%), hernia (12: 4.27%), band adhesion (8: 2.85%), rotation anomaly (5: 1.78%), small bowel atresia (3: 1.07%), Meckel's diverticulum (3: 1.07%), duodenal atresia (2: 0.71%), meconium ileus (1: 0.36%) and annular pancreas (1: 0.36%). Congenital type of intestinal obstruction (we classified intussusception acquired and others congenital) occupied 38.44%. 2. The ratio of male to female was 3: 1, congenital type 4.69 : 1 and acquired 2.39 : 1. 3. Vomiting, bloody stool, fever and abdominal distention were the most 4 symptoms. 4. The frequency of typical mechanical ileus pattern on plain abdomen films was 226 cases(80.43%) paralytic ileus or normal finding was 52 cases (18.51%) and pneumoperitoneum with ileus sign was 3 cases (1.06%). 5. Barium meal or enema was performed in 228 cases and narrowing or obstructed site was found in 213 cases of them (93.42%); intussusception 100% (173/173), infantile hypertrophic pyloric stenosis 93.33% (14/15) and congenital megacolon 82.35% (14/17). 6. Only 10 cases had associated disease such as Mongolism, thoracic kyphosis and scoliosis, microcolon, prematurity, ileocolic fistula, undescended testicle and hydrocele. 7. Meconium plug syndrome, duodenal atresia, small bowel atresia, mecondium ileus and annular pancreas were developed early after birth with average onset age of 3.6 days

  8. Radiological evaluation of intestinal obstruction in neonate and infant

    Energy Technology Data Exchange (ETDEWEB)

    Jeon, D. S.; Lim, K. Y.; Kim, S. J.; Kim, J. D.; Rhee, H. S. [Presbyterian Medical Center, Jeonju (Korea, Republic of)

    1980-12-15

    281 cases of neonatal and infantile intestinal obstruction confirmed by clinical and surgical procedure from 1975 till 1979 were reviewed radiologically. The result was as follows; 1. Intussusception was the most common cause of intestinal obstruction under one year of age (173/281: 61.56%), and other causes of descending order were infantile hypertrophic pyloric stenosis (20: 7.11%), congenital megacolon (19: 6.76%), anorectal malformation (17: 6.05%), meconium plug syndrome (17: 6.05%), hernia (12: 4.27%), band adhesion (8: 2.85%), rotation anomaly (5: 1.78%), small bowel atresia (3: 1.07%), Meckel's diverticulum (3: 1.07%), duodenal atresia (2: 0.71%), meconium ileus (1: 0.36%) and annular pancreas (1: 0.36%). Congenital type of intestinal obstruction (we classified intussusception acquired and others congenital) occupied 38.44%. 2. The ratio of male to female was 3: 1, congenital type 4.69 : 1 and acquired 2.39 : 1. 3. Vomiting, bloody stool, fever and abdominal distention were the most 4 symptoms. 4. The frequency of typical mechanical ileus pattern on plain abdomen films was 226 cases(80.43%) paralytic ileus or normal finding was 52 cases (18.51%) and pneumoperitoneum with ileus sign was 3 cases (1.06%). 5. Barium meal or enema was performed in 228 cases and narrowing or obstructed site was found in 213 cases of them (93.42%); intussusception 100% (173/173), infantile hypertrophic pyloric stenosis 93.33% (14/15) and congenital megacolon 82.35% (14/17). 6. Only 10 cases had associated disease such as Mongolism, thoracic kyphosis and scoliosis, microcolon, prematurity, ileocolic fistula, undescended testicle and hydrocele. 7. Meconium plug syndrome, duodenal atresia, small bowel atresia, mecondium ileus and annular pancreas were developed early after birth with average onset age of 3.6 days.

  9. Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum.

    Science.gov (United States)

    Bairdain, Sigrid; Zurakowski, David; Vargas, Sara O; Stenquist, Nicole; McDonald, Molly; Towne, Meghan C; Miller, David T; Jennings, Russell W; Kantor, David B; Agrawal, Pankaj B

    2017-01-01

    Long-gap esophageal atresia (LGEA) may have clinical and syndromic presentations different from those of esophageal atresia (EA) that affects shorter segments of the esophagus (non-LGEA). This may suggest unique underlying developmental mechanisms. We sought to characterize clinical differences between LGEA and non-LGEA by carefully phenotyping a cohort of EA patients, and furthermore to assess molecular genetic findings in a subset of them. This is a retrospective cohort study to systematically evaluate clinical and genetic findings in EA infants who presented at our institution over a period of 10 years (2005-2015). Two hundred twenty-nine EA patients were identified, 69 (30%) of whom had LGEA. Tracheoesophageal fistula was present in most non-LGEA patients (158 of 160) but in only 30% of LGEA patients. The VACTERL association was more commonly seen with non-LGEA compared to LGEA (70 vs. 25%; p < 0.001). Further, trisomy 21 was more common in LGEA than in non-LGEA. 25% of LGEA patients had an isolated EA diagnosis without other anomalies, compared to <1% for non-LGEA. Chromosomal microarray analysis showed copy number variations (CNV) in 4 of 39 non-LGEA patients and 0 of 3 LGEA patients. A review of the ClinGen database showed that none of those CNV have been previously described with EA. LGEA represents a unique type of EA. Compared to non-LGEA, it is more likely to be an isolated defect and associated with trisomy 21. Further, it is less commonly seen with VACTERL anomalies. Our findings suggest the involvement of unique pathways that may be distinct from those causing non-LGEA. © 2016 S. Karger AG, Basel.

  10. Anaesthesia for oesophageal atresia with or without tracheo ...

    African Journals Online (AJOL)

    syndromes, and chromosomal anomalies, such as Trisomy 21 and. 18, and 13q deletion.5. Classification. The TOF and oesophageal atresia anomalies have been classified in terms of their anatomical variations and for diagnostic, surgical planning and prognostic purposes. The anatomical classification was pioneered by ...

  11. QUALITATIVE ABNORMAL FETAL BREATHING MOVEMENTS, ASSOCIATED WITH TRACHEAL ATRESIA

    NARCIS (Netherlands)

    BAARSMA, R; BEKEDAM, DJ; VISSER, GHA

    A case is reported in which qualitatively, grossly abnormal fetal breathing movements turned out to be indicative of complete tracheal atresia. Fetal breathing movements were vigorous and jerky and of large amplitude; similarly abnormal movements were observed after birth. At postmortem tracheal

  12. Thirty-four years' experience with biliary atresia in Denmark

    DEFF Research Database (Denmark)

    Kvist, N; Davenport, M

    2011-01-01

    Biliary atresia (BA) is a rare disease in Denmark (population ∼ 5.5 million) and there has been some controversy on how smaller countries should manage such conditions to obtain the best possible outcomes. The aim of this study was to evaluate the efficacy of primary surgery (i. e., Kasai portoen...

  13. Biliary Atresia – An Easily Missed Cause of Jaundice amongst ...

    African Journals Online (AJOL)

    Back ground: Biliary atresia is characterized by biliary obstruction, it has an incidence of 1:15000 and presents with jaundice, acholic stools / dark urine and hepatomegaly. This disease rapidly leads to liver cirrhosis and liver failure if untreated surgically. The main objective was to establish the epidemiology of patients ...

  14. Long survival ( 21 years) after portoenterostomy for biliary atresia: A ...

    African Journals Online (AJOL)

    Long term survival for decades after portoenterostomy (Kasai procedure) for biliary atresia is rare and the association of portoenterostomy with liver cirrhosis is well known. Not much attention was given in the evaluation of the imaging features of cirrhosis caused by portoenterostomy as received by other known usual ...

  15. Combined oesophageal atresia with upper pouch fistula and ...

    African Journals Online (AJOL)

    Upper pouch tracheoesophageal fistula occurs is less than 1% of all oesophageal atresia variants. Meconium peritonitis is a rare neonatal condition with an incidence of 1:30 000 live births. In this case report, we describe the presentation, clinical findings and management of a patient diagnosed with an oesophageal ...

  16. Cor triloculares biatritum with tricuspid atresia in an african child

    Directory of Open Access Journals (Sweden)

    Aliyu Ibrahim

    2014-01-01

    Full Text Available Cor triloculares biatritum is a rare congenital heart disease characterized by a three-chambered heart consisting of two atria and a single ventricle; however the case of a 5-month-old African boy who in addition to this defect had an associated tricuspid atresia and an atrial septal defect is reported.

  17. Repair of oesophageal atresia with tracheo- oesophageal fistula ...

    African Journals Online (AJOL)

    Right thoracotomy for oesophageal atresia (OA) with dextrocardia is technically challenging due to the heart being in the operative field, and also due to the possibility of right-sided aortic arch. We report a neonate with long- gap OA with tracheo-oesophageal fistula (TOF), dextrocardia, and left-sided aortic arch who was.

  18. Bilateral Choanal Atresia: Highlighting The Role Of Computerised ...

    African Journals Online (AJOL)

    A neonate delivered at UCH Ibadan was diagnosed to have bilateral choanal atresia being membranous on the right side and bony on the left side by computed tomography. She had surgical correction of the right sided obstruction but died on the seventh post operative day due to septicemia. The literature has been ...

  19. Oesophageal atresia without tracheo-oesophageal fistula and an ...

    African Journals Online (AJOL)

    We report on a primary laparoscopically assisted anorectal pullthrough (LAARP) performed in a neonate with pure oesophageal atresia and imperforate anus with recto-bulbo-urethral fistula, representing a unique case for the LAARP approach owing to the undistended nature of the bowel and sterile meconium. Further ...

  20. Case Report: Congenital Biliary Atresia | Gulamabbas | Dar Es ...

    African Journals Online (AJOL)

    Dar Es Salaam Medical Students' Journal. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 15, No 1 (2008) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Case Report: Congenital Biliary Atresia.

  1. Thirty-four years' experience with biliary atresia in Denmark

    DEFF Research Database (Denmark)

    Kvist, N; Davenport, M

    2011-01-01

    Biliary atresia (BA) is a rare disease in Denmark (population ~¿5.5 million) and there has been some controversy on how smaller countries should manage such conditions to obtain the best possible outcomes. The aim of this study was to evaluate the efficacy of primary surgery (i.¿e., Kasai...

  2. Unilateral membranous choanal atresia | Ahmed | SA Journal of ...

    African Journals Online (AJOL)

    SA Journal of Radiology. Journal Home · ABOUT · Advanced Search · Current Issue · Archives · Journal Home > Vol 15, No 1 (2011) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Unilateral membranous choanal atresia. A Ahmed. Abstract. No Abstract. Full Text:.

  3. Individual Pulmonary Vein Atresia in Adults: Report of Two Cases

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hyoung Nam; Kim, Young Tong; Cho, Sung Sik [Cheonan Hospital, SoonchunhyangUniversity College of Medicine, Cheonan (Korea, Republic of)

    2011-06-15

    We present two cases of individual pulmonary vein atresia without vestige of an involved pulmonary vein. On CT, we noted the absence or interruption of normal pulmonary venous structures, and the presence of abnormal vascular structures that represented collaterals for the involved lung parenchyma. On angiography, the artertic pulmonary vein was found to drain into the other ipsilateral pulmonary veins through the collaterals.

  4. Magnetic compression anastomosis as a nonsurgical treatment for esophageal atresia

    Energy Technology Data Exchange (ETDEWEB)

    Zaritzky, Mario [Hospital de Ninos de La Plata, Department of Radiology, Buenos Aires (Argentina); University of Chicago Medical Center, Department of Radiology, Chicago, IL (United States); Ben, Ricardo [Hospital de Ninos de La Plata, Department of Gastroenterology, Buenos Aires (Argentina); Zylberg, Gaston I.; Yampolsky, Brian [Hospital de Ninos de La Plata, Department of Radiology, Buenos Aires (Argentina)

    2009-09-15

    We describe a unique technique to promote a nonsurgical esophageal anastomosis with magnets in children with esophageal atresia. To evaluate the efficacy of magnetic lengthening of atretic esophageal ends to produce an anastomosis and to communicate our results after more than 2 years of follow-up. Between September 2001 and March 2004, five children were selected for treatment. Two of the children had esophageal atresia without fistula (type A) and three had atresia with fistula converted to type A surgically; however, surgeons failed to achieve an anastomosis because of the width of the gap. Neodymium-iron-boron magnets were used. Daily chest radiographs were taken until union of the magnets was observed. They were then replaced with an orogastric tube. Anastomosis was achieved in all patients in an average of 4.8 days. One patient, with signs of early sepsis, was successfully treated with antibiotics. In four of the five patients, esophageal stenosis developed. At the time of this report, two patients were free of treatment and on an oral diet (after 26 months), two patients required periodic balloon dilatation, and one patient had recently undergone surgery due to recurrent esophageal stenosis not amenable to balloon dilatation. Magnetic esophageal anastomosis is a feasible method in selected patients with esophageal atresia. Esophageal anastomosis was achieved in all patients. The only observed complication of significance was esophageal stenosis. One patient needed surgery because of stenosis. (orig.)

  5. Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case ...

    African Journals Online (AJOL)

    Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case report and literature review. ... At birth, there was denuded skin over the right leg from the knee joint up to the middle of the right foot. Abdominal radiograph ... Examination indicated no signs of child abuse; the parents refused an autopsy exam for the child.

  6. Anaesthesia for oesophageal atresia with or without tracheo ...

    African Journals Online (AJOL)

    Oesophageal atresia, with or without tracheo-oesophageal fistula, is one of the most challenging conditions with which the anaesthesiologist has to deal during the perioperative period. The patients are usually in their first few days of life, and might be premature with inherent airway problems. This is then compounded by ...

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

    Science.gov (United States)

    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 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

  8. Anorectal atresia with gross terminal colonic distension in Africa.

    Science.gov (United States)

    Moore, S W; Tshifularo, N; Banieghbal, B; Le Grange, E; Millar, A; Lakhoo, K

    2013-12-01

    Anorectal malformation (ARM) is a group of significant birth defects with geographic variation in incidence, individual phenotypes and regional geographic subtypes occurring in approximately 1:5,000 live births. Anorectal atresia with gross terminal colonic distension in the presence of an absent anal canal has also been known as 'pouch colon' which is mainly associated with the Indian subcontinent. Its prevalence is unknown but it is rare, possibly representing a fraction of 1 % of ARM. The problem seems to revolve around the gross terminal distension of the distal pouch which remains a significant surgical challenge to surgeons resulting in poorer postoperative continence in many instances. This study set out to collate data on ARM patients with gross terminal distension of the distal pouch from Africa to evaluate its epidemiology and outcome in African patients. Fifteen African paediatric surgical centres (7 South African and 8 African centres) were polled on the occurrence of anorectal atresia with gross terminal distension of the terminal bowel, an ARM variant. Data included ethnic group, age, gender as well as the anatomical pathology, classification and presence or absence of associated anomalies. Of 12 respondents, 8 (67 %) responded and sufficient data to classify and analyse were obtained from six of the eight positive replies (7 new cases). Abdominal X-ray showed a grossly dilated terminal portion of the colon in the presence of an imperforate anus. A colovesical fistula was observed in four (three males and one female cloaca). Three were associated with a colonic atresia, of which two were in the transverse colon and one in the sigmoid colon. Surgical corrective procedures were carried out in six, but one patient, with a cloaca, died prior to surgical correction. In this survey of 15 African centres, we have attempted to document the occurrence and presentation of anorectal atresia with gross terminal distension in Africa and report seven additional new

  9. Intestinal Obstruction

    Science.gov (United States)

    ... the obstruction along the intestines. Treatment Suction via nasogastric tube Fluids given by vein Surgery for strangulation Sometimes ... nose and placed in the stomach (called a nasogastric tube) or into the intestine. Suction is applied to ...

  10. Unilateral pulmonary veins atresia: evaluation by computed tomography; Atresia unilateral das veias pulmonares: avaliacao por tomografia computadorizada

    Energy Technology Data Exchange (ETDEWEB)

    Eifer, Diego Andre; Arsego, Felipe Veras, E-mail: felipesoarestorres@gmail.com [Hospital de Clinicas de Porto Alegre (HCPA), RS (Brazil). Serv. de Radiologia; Torres, Felipe Soares [Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS (Brazil). Escola de Medicina

    2013-11-15

    Unilateral pulmonary vein atresia is a rare congenital condition. In addition to cardiac malformations or pulmonary hypertension, patients may present with recurrent pulmonary infections or hemoptysis in childhood or adolescence. The authors report a case where the typical findings of such condition were observed at computed tomography in an adult patient. (author)

  11. Perinatal Survival of a Fetus with Intestinal Volvulus and Intussusception: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Esohe Ohuoba

    2013-10-01

    Full Text Available Fetal intestinal volvulus is a rare life-threatening condition. Late diagnosis of volvulus contributes to high rate of morbidity and mortality. It has variable degrees of presentation and survival. Intrauterine volvulus may be complicated by intestinal atresia due to ischemic necrosis. To our knowledge, there are three reported cases of term fetal demise. We report a case of fetal intestinal volvulus with perinatal survival of the largest term infant described with this complication to date. The volvulus was associated with type 3A jejunal atresia and intestinal pathology was noted on prenatal ultrasound. The infant was born via urgent cesarean delivery at 376/7 weeks of gestation and underwent emergent exploratory laparotomy with resection of small bowel and primary end-to-end anastomosis. Intrauterine intestinal volvulus may be suspected on prenatal ultrasound but only definitively diagnosed postnatally. Signs of fetal distress and volvulus are rarely associated with reports of survival in the term fetus. We review reported cases of prenatally suspected volvulus in infants documented to survive past the neonatal period. As fetal volvulus and most intestinal atresias/stenoses manifest during the third trimester, we recommend that the limited fetal anatomical survey during growth ultrasounds at 32 to 36 weeks routinely include an assessment of the fetal bowel.

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

    DEFF Research Database (Denmark)

    Nissling, A.; Thorsen, A.; da Silva, Filipa

    2016-01-01

    ⋅2±1⋅5 years. Measurements of atresia were performed using the ‘profile method’ with the intensity of atresia adjusted according to the ‘dissectormethod’ (10⋅6% adjustment; coefficient of determination was 0⋅675 between methods). Both prevalence (portion of fish with atresia) and intensity (calculated...... as the average proportion of atretic cells in fish displaying atresia) of atresia were low in prespawning fish, but high from onset of spawning throughout the spawning period. Atretic oocytes categorized as in early alpha and in late alpha state occurred irrespective of maturity stage from late prespawning...... individuals up to late spawning fish, showing that oocytes may become atretic throughout the spawning period. Observed prevalence of atresia throughout the spawning period was almost 40% with an intensity of c. 20%. This indicates extensive down-regulation, i.e. considerably lower realized (number of eggs...

  13. Severe tricuspid stenosis presenting as tricuspid atresia. Echocargraphic diagnosis and surgical management.

    OpenAIRE

    Shore, D F; Rigby, M L; Lincoln, C

    1982-01-01

    Two cases of pulmonary atresia with intact ventricular septum and severe tricuspid stenosis are described in which the initial angiographic diagnosis was tricuspid atresia and pulmonary atresia. Two dimensional echocardiography showed the features of an imperforate tricuspid valve because in each case contrast echocardiography failed to show anterograde flow from the right atrium to right ventricle. Successful radical surgical repair was achieved in one patient with performing a tricuspid val...

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

    Science.gov (United States)

    Kim, Minbum

    2015-08-01

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

  15. BIRTH INJURY RELATED UNILATERAL ANTERIOR NARES PARTIAL FIBROUS ATRESIA: A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Jayagar

    2016-02-01

    Full Text Available Congenital atresia of anterior nares has been rarely reported and it may co-exist along with posterior choanal atresia. (1,2 In our case, birth injury caused by forceps delivery has caused unilateral anterior nares partial atresia. Twenty eight years old male patient came with the complaints of left nostril blocked sensation since birth, aggravated with attacks of upper respiratory tract infections. On examination he had left anterior nares partial atresia caused by fibrous bands as a result of birth injury due to instrumental delivery. Rhinoplasty performed to open-up left nostril and patient relieved of his symptoms and also on cosmetic appearance

  16. Common pulmonary vein atresia: report of three cases and review of the literature.

    Science.gov (United States)

    Perez, Michael; Kumar, T K Susheel; Briceno-Medina, Mario; Alsheikh-Ali, Mohammed; Sathanandam, Shyam; Knott-Craig, Christopher J

    2016-04-01

    Common pulmonary vein atresia is a rare and usually fatal congenital anomaly, in which the pulmonary veins come together to form a confluence that does not connect to the left atrium. We report our experience with three cases of common pulmonary vein atresia and review the literature on this anomaly. The diagnosis of common pulmonary vein atresia must be entertained in any newborn that presents with cyanosis, refractory acidosis, and decreased systemic perfusion within the first 48 hours of life. Echocardiography is a useful screening tool, but cardiac catheterisation is the preferred diagnostic tool. Common pulmonary vein atresia can be fatal without surgical intervention, but survival after surgery continues to be poor.

  17. MRI in children following surgery for anal and rectal atresia

    International Nuclear Information System (INIS)

    Krahe, T.; Herold, A.; Doelken, W.; Hoecht, B.; Wuerzburg Univ.

    1989-01-01

    MRI of the pelvis was performed in 17 children following surgical correction of anal and rectal atresias and in five children without ano-rectal malformations. A muscle score was used to characterize the muscles of the pelvic floor and their relationship to the rectum. There was close agreement between the MRI muscle score and clinical continence. MRI provided additional information that should improve continence following conservative and surgical treatment. (orig.) [de

  18. False Computed Tomography Findings in Bilateral Choanal Atresia

    Directory of Open Access Journals (Sweden)

    Elsheikh, Ezzeddin

    2016-01-01

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

  19. Contemporary Hearing Rehabilitation Options in Patients with Aural Atresia

    Science.gov (United States)

    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

  20. Contemporary Hearing Rehabilitation Options in Patients with Aural Atresia

    Directory of Open Access Journals (Sweden)

    Jacky F. W. Lo

    2014-01-01

    Full Text Available 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.

  1. A rare malformation: Double duodenal atresia associated with malrotation in a patient with “Cri du Chat” syndrome

    OpenAIRE

    Corina Zamfir; Martine Dassonville; Gregory Rodesch; Henri Steyaert

    2016-01-01

    Duodenal atresia is a common cause of neonatal obstruction. It is frequently associated with other malformations such as Down syndrome, cardiac anomalies, malrotation or annular pancreas. Double duodenal atresia is an exceptional malformation. There are only few publications on this subject and none are in association with “Cri du Chat” (Cat Cry) syndrome. We present a newborn, prenatally diagnosed with duodenal atresia and with “Cri du Chat” syndrome. The double duodenal atresia was actually...

  2. The role of splenectomy before liver transplantation in biliary atresia patients.

    Science.gov (United States)

    Takahashi, Yoshiaki; Matsuura, Toshiharu; Yanagi, Yusuke; Yoshimaru, Koichiro; Taguchi, Tomoaki

    2016-12-01

    There is currently no unified view regarding whether liver transplantation or splenectomy should be performed for hypersplenism before liver transplantation in biliary atresia (BA) patients. We herein describe the efficacy of splenectomy before liver transplantation. Splenectomy was performed in ten patients with hypersplenism associated with BA. We retrospectively reviewed their perioperative and postoperative courses, the number of leukocytes and thrombocytes, and the MELD score. The mean age was 17.5±7.0years (range 11-31years), and the male-to-female ratio was 1:1. The platelet and leukocyte levels increased after splenectomy and returned to normal levels one month postoperatively. The mean MELD score after splenectomy was significantly decreased after splenectomy: 10±2.1 vs 7.6±1.8. In particular, PT-INR improved. Five patients underwent liver transplantation because of hepatopulmonary syndrome and repeated bouts of cholangitis, whereas the remaining five patients did not undergo liver transplantation because of improvements in the liver function (the mean follow-up period was 56months). The postoperative complications included portal vein thrombosis and intestinal perforation, but the patient survival rates remained at 100%. After splenectomy, both pancytopenia and the liver function clearly improved. Splenectomy should therefore be a treatment option for patients with hypersplenism before liver transplantation. Retrospective Comparative Study - Level III. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Treatment strategies in the management of jejunoileal and colonic atresia

    Directory of Open Access Journals (Sweden)

    Chadha Rajiv

    2006-01-01

    Full Text Available BACKGROUND/PURPOSE: The purpose of this prospective study was to review the operative findings, treatment strategies, as well as the results of management of 46 consecutive cases of jejunoileal and colonic atresia, managed over a 2-year period. MATERIALS AND METHODS: There were 42 patients with jejunoileal atresia (JIA and 4 with colonic atresia (CA. The 4 group types were: type I-membranous (n=20, type II- blind ends separated by a fibrous cord (n=6, type IIIa- blind ends with a V-shaped mesenteric defect (n=10, type IIIb- apple-peel atresia (n=4 and type IV- multiple atresias (n=6. Primary surgery for JIA consisted of resection with a single anastomosis (n=37, anastomosis after tapering jejunoplasty (n=3, multiple anastomosis (n=1 and a Bishop-Koop ileostomy (n=1. For CA, resection with primary anastomosis was performed. A single end-to-oblique anastomosis after adequate resection of dilated proximal bowel, was the preferred surgical procedure. In the absence of facilities for administering TPN, early oral/nasogastric (NG tube feeding was encouraged. In patients with anastomotic dysfunction, conservative treatment of the obstruction followed after its resolution by gradually increased NG feeds, was the preferred treatment protocol. RESULTS: Late presentation or diagnosis with hypovolemia, electrolyte imbalance, unconjugated hyperbilirubinemia (n=25 and sepsis (n=6, were significant preoperative findings. After resection and anastomosis, significant shortening of bowel length was seen in 16 patients (34.7%. Postoperative complications included an anastomotic leak (n=3, a perforation proximal to the anastomosis in 1 and anastomotic dysfunction in 5 patients. Full oral or NG tube feeding was possible only by the 13th to 31st postoperative day (POD, after the primary surgery in patients with anastomotic dysfunction and those undergoing reoperation. Overall, 38 patients survived (82.6%. Mortality was highest in patients with type IIIb or type IV

  4. Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

    Science.gov (United States)

    Smigiel, Robert; Marcelis, Carlo; Patkowski, Dariusz; de Leeuw, Nicole; Bednarczyk, Damian; Barg, Ewa; Mascianica, Katarzyna; Maria Sasiadek, M; Brunner, Han

    2014-01-01

    Oesophageal atresia (OA) and tracheoesophageal fistula (TOF) are foregut malformations with a heterogeneous etiology. OA/TOF may occur as an isolated anomaly or as part of a syndrome. Chromosomal anomalies have been reported in 6-10% of OA/TOF. Several genes have been implicated in cases of syndromic OA/TOF, but no single specific chromosomal and monogenic defect has been confirmed as a main etiological factor. We described a patient with a 1.4 Mb duplication at 17q12 detected by SNP-array study and validated using qRT-PCR, who presented with an oesophageal atresia accompanied with tracheoesophageal fistula and anal atresia as well as other symptoms resembling VATER association (thumb hypoplasia, sacral bone defect, cryptorchidism). Genomic rearrangements of chromosome 17q12 are associated with a variety of clinical phenotypes. Only few cases with OA patients with the duplication in 17q12 have been reported. The 17q12 region comprised 15 genes. We propose to consider a role for selected genes such as AATF (cell proliferation and apoptosis) and TADA2L (Wnt pathway) at the 17q12 region as well as developmental and transcriptional pathways represented by these genes, in the development of OA/TOF and VATER association. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  5. Intestine transplantation

    Directory of Open Access Journals (Sweden)

    Tadeja Pintar

    2011-02-01

    Conclusion: Intestine transplantation is reserved for patients with irreversible intestinal failure due to short gut syndrome requiring total paranteral nutrition with no possibility of discontinuation and loss of venous access for patient maintenance. In these patients complications of underlying disease and long-term total parenteral nutrition are present.

  6. Neonatal intestinal obstruction in Benin, Nigeria

    Directory of Open Access Journals (Sweden)

    Osifo Osarumwense

    2009-01-01

    Full Text Available Background: Intestinal obstruction is a life threatening condition in the newborn, with attendant high mortality rate especially in underserved subregion. This study reports the aetiology, presentation, and outcome of intestinal obstruction management in neonates. Materials and Methods: A prospective study of neonatal intestinal obstruction at the University of Benin Teaching Hospital, Benin, Nigeria, between January 2006-June 2008. Data were collated on a structured proforma and analysed for age, sex, weight, presentation, type/date of gestation/delivery, aetiology, clinical presentation, associated anomaly, treatment, and outcome. Results: There were 71 neonates, 52 were males and 19 were females (2.7:1. Their age range was between 12 hours and 28 days (mean, 7.9 ± 2.7 days and they weighed between 1.8 and 5.2 kg (average, 3.2 kg. The causes of intestinal obstruction were: Anorectal anomaly, 28 (39.4%; Hirschsprung′s disease, 8 (11.3%′ prematurity, 3 (4.2%; meconeum plug, 2 (2.8%; malrotation, 6 (8.5%; intestinal atresia, 8 (11.3%; necrotising enterocolitis (NEC, 4 (5.6%; obstructed hernia, 4 (5.6%; and spontaneous gut perforation, 3 (4.2%. Also, 27 (38% children had colostomy, 24 (33.8% had laparotomy, 9 (12.8% had anoplasty, while 11 (15.4% were managed nonoperatively. A total of 41 (57.7% neonates required incubator, 26 (36.6% needed total parenteral nutrition, while 15 (21.1% require d paediatric ventilator. Financial constraint, late presentation, presence of multiple anomalies, aspiration, sepsis, gut perforation, and bowel gangrene were the main contributors to death. Neonates with lower obstructions had a better outcome compared to those having upper intestinal obstruction ( P < 0.0001. Conclusion: Outcomes of intestinal obstruction are still poor in our setting; late presentation, financial constraints, poor parental motivation and lack of basic facilities were the major determinants of mortality.

  7. Jejunal atresia related to the use of methylene blue in genetic amniocentesis in twins

    NARCIS (Netherlands)

    van der Pol, J. G.; Wolf, H.; Boer, K.; Treffers, P. E.; Leschot, N. J.; Hey, H. A.; Vos, A.

    1992-01-01

    OBJECTIVE: To calculate the incidence of jejunal atresia in newborns in The Netherlands. To study the relation between the occurrence of jejunal atresia and genetic amniocentesis to determine a possible iatrogenic cause for the unexpected high incidence of this anomaly in twins. DESIGN:

  8. Duodenal atresia with 'apple-peel configuration' of the ileum and ...

    African Journals Online (AJOL)

    According to the current understanding, duodenal atresia is considered to be a primary malformation resulting from the errors in recanalisation in early gestation. We report a rare case of duodenal atresia with apple-peel configuration of remaining small bowel with absent superior mesenteric artery in a preterm child, which ...

  9. Left hepatic lobectomy in a long-term biliary atresia survivor | Miyano ...

    African Journals Online (AJOL)

    Surgery was performed on day 43 for biliary atresia. Left lobectomy with preservation of Roux-en-y cholecystojejunostomy was performed for refractory cholangitis after 25 years. Our case is currently awaiting liver transplantation. This is the second report of liver resection in a long-term biliary atresia survivor in the English ...

  10. Forkhead box A3 attenuated the progression of fibrosis in a rat model of biliary atresia

    Science.gov (United States)

    Dong, Rui; Yang, Yifan; Shen, Zhen; Zheng, Chao; Jin, Zhu; Huang, Yanlei; Zhang, Zhien; Zheng, Shan; Chen, Gong

    2017-01-01

    Biliary atresia is a rare, devastating disease of infants where a fibroinflammatory process destroys the bile ducts, leading to fibrosis and biliary cirrhosis, and death if untreated. The cause and pathogenesis remain largely unknown. We tried to investigate factors involved in biliary atresia, especially forkhead box A3 (Foxa3), which might exert a role in the treatment of liver disease. We used RNA sequencing to sequence the whole transcriptomes of livers from six biliary atresia and six choledochal cysts patients. Then, we employed a rat disease model by bile duct ligation (BDL) and adenovirus transduction to address the function of Foxa3 in biliary atresia. We found that tight junction, adherence junction, cell cycle, apoptosis, chemokine singling, VEGF and MAPK signaling pathways were enriched in biliary atresia livers. We showed that Foxa3 expression was notably decreased in liver samples from biliary atresia patients. More importantly, we found that its lower expression predicted a poorer overall survival of biliary atresia patients. Rats that received BDL surgery and Foxa3 expression adenovirus resulted in a significant decrease in the deposition of collagen, and expression of profibrotic cytokines (transforming growth factor-β and connective tissue growth factor) and fibrosis markers (α-smooth muscle actin, collagen I and collagen III), as compared with rats that received BDL surgery and control adenovirus. Our data suggested a protection role for Foxa3 during the progression of liver fibrosis in biliary atresia, and thereby supported increasing Foxa3 as a targeted treatment strategy. PMID:28358366

  11. Thoracoscopic traction technique in long gap esophageal atresia : entering a new era

    NARCIS (Netherlands)

    van der Zee, David C.; Gallo, Gabriele; Tytgat, Stefaan H. A.

    2015-01-01

    To describe the evolution from delayed management of long gap esophageal atresia to thoracoscopic treatment directly after birth without the placement of a gastrostomy. Long gap esophageal atresia remains a challenge for pediatric surgeons. Over the years, several techniques have been described to

  12. Development of infantile hypertrophic pyloric stenosis in patients treated for oesophageal atresia. A case report

    DEFF Research Database (Denmark)

    Qvist, N; Rasmussen, L; Hansen, L P

    1986-01-01

    Two cases of infantile hypertrophic pyloric stenosis (IHPS) developed in 74 patients treated for oesophageal atresia. Treatment of oesophageal atresia is frequently followed by vomiting and failure to thrive due to gastrooesophageal reflux or anastomotic stricture. The diagnose of IHPS must...

  13. Atresia of the bilateral pulmonary veins: a rare and dismal anomaly identified on cardiac CT

    International Nuclear Information System (INIS)

    Goo, Hyun Woo; Park, Sang-Hyub; Koo, Hyun Jung; Cho, Young Hoon; Lee, Eunsol

    2014-01-01

    Imaging findings of bilateral pulmonary vein atresia have not been described. To describe cardiac CT findings and clinical outcomes of bilateral pulmonary vein atresia. Three newborns with bilateral pulmonary vein atresia were encountered at our institution during a period of 8 years. We evaluated prenatal echocardiographic findings, clinical presentations, postnatal echocardiographic findings, chest radiographic findings, cardiac CT findings and clinical outcomes. All newborns presented immediately after birth with severe cyanosis, respiratory distress and acidosis that were unresponsive to medical management. Prenatal and postnatal echocardiographic studies and chest radiography were misleading, inconclusive or nonspecific in making the diagnosis in these children; however cardiac CT clearly demonstrated atresia of the bilateral pulmonary veins with multiple small mediastinal collateral veins and pulmonary edema. Surgical treatments were not feasible for this anomaly. Their clinical outcomes were universally dismal and all infants died within 3 days. Cardiac CT provides an accurate diagnosis of bilateral pulmonary vein atresia and leads to prompt treatment decision in these children. (orig.)

  14. Atresia of the bilateral pulmonary veins: a rare and dismal anomaly identified on cardiac CT

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo; Park, Sang-Hyub; Koo, Hyun Jung; Cho, Young Hoon; Lee, Eunsol [University of Ulsan College of Medicine, Asan Medical Center, Department of Radiology and Research Institute of Radiology, Seoul (Korea, Republic of)

    2014-08-15

    Imaging findings of bilateral pulmonary vein atresia have not been described. To describe cardiac CT findings and clinical outcomes of bilateral pulmonary vein atresia. Three newborns with bilateral pulmonary vein atresia were encountered at our institution during a period of 8 years. We evaluated prenatal echocardiographic findings, clinical presentations, postnatal echocardiographic findings, chest radiographic findings, cardiac CT findings and clinical outcomes. All newborns presented immediately after birth with severe cyanosis, respiratory distress and acidosis that were unresponsive to medical management. Prenatal and postnatal echocardiographic studies and chest radiography were misleading, inconclusive or nonspecific in making the diagnosis in these children; however cardiac CT clearly demonstrated atresia of the bilateral pulmonary veins with multiple small mediastinal collateral veins and pulmonary edema. Surgical treatments were not feasible for this anomaly. Their clinical outcomes were universally dismal and all infants died within 3 days. Cardiac CT provides an accurate diagnosis of bilateral pulmonary vein atresia and leads to prompt treatment decision in these children. (orig.)

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

    Science.gov (United States)

    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.

  16. Term Pregnancy at the Site of Atresia Following Vaginal Canalization in a Case of Uterus Didelphys with Hemivaginal Atresia and Ipsilateral Renal Agenesis

    Directory of Open Access Journals (Sweden)

    Fang-Ping Chen

    2006-12-01

    Conclusion: A greater awareness of the syndrome of uterus didelphys, hemivaginal atresia, and ipsilateral renal agenesis should lead to a correct diagnosis. We herein report our experience with the correct diagnosis and alternative management of this rare syndrome.

  17. [Laparoscopic Kasai portoenterostom: present and future of biliary atresia treatment].

    Science.gov (United States)

    Ayuso, L; Vila-Carbó, J J; Lluna, J; Hernández, E; Marco, A

    2008-01-01

    Kasai's operation has proved its value in surgical treatment of biliary atresia (BA). Its laparoscopic approach is a new challenge for pediatric surgeons, with all the potential advantages of minimally invasive surgery. The aim of the present study has been to report our experience in laparoscopic management of five patients with biliary atresia. The average of age of five patients with biliary atresia, three boys and two girls was 58 days (range 40-64). Pre and postoperative management included antibiotic prophylaxis and choleretic treatment. Laparoscopic procedure was accomplished using one umbilical 10-mm trocar and two additional 5-mm trocars. We carried out the same technique in all the patients except in one of them with a total situs inversus and who compelled us to modify the original procedure. All five patients underwent a laparoscopic procedure, conversion was not necessary. The mean surgical time was 3 hours and 40 minutes (range: 5:30 y 3:10). There were not intra operative complications and all of them had a satisfactory recovery, except for the patient with situs inversus, who suffered a small bowel volvulus 9 days after the operation, leading us to perform an extensive bowel resection. All the patients, except this one, showed signs of adequate bile flow, with disappearance of clinical cholestasis. Biochemistry test became normal. Besides the certain advantages compared with conventional surgical procedures (lower surgical damage, diminished post-operative recovery), laparoscopic management of BA, allows a better exposure of the porta hepatis without hepatic mobilization so it shows similar or better preliminary results than conventional techniques. The advantages of laparoscopic portoenterostomy are yet to be proved whenever liver transplantation is indicated.

  18. Prognostic impact of hepatobiliary scintigraphy in diagnosis and postoperative follow-up of newborns with biliary atresia

    International Nuclear Information System (INIS)

    Rossmueller, B.; Porn, U.; Dresel, S.; Hahn, K.; Schuster, T.; Lang, T.

    2000-01-01

    Aim: To investigate the prognostic relevance of hepatobiliary scintigraphy (HBS) in newborns suffering from biliary atresia (BA) for establishing the primary diagnosis and in the postoperative follow-up after portoenterostomy (Kasai). Methods: Twenty newborns with direct hyperbilirubinemia and 6 children after operative treatment of BA (Kasai) underwent HBS with Tc-99m-DEIDA. In patients without intestinal drainage, hepatocellular extraction was estimated visually and calculated semiquantitatively by means of liver/heart-ratio 5 min p.i. Results: 10/20 patients with hyperbilirubinemia did not display biliary drainage; 6 had BA, 3 intrahepatic hypoplasia, and one showed a bile plug syndrom. 4/6 with BA but none of the 4 children with diagnoses other than BA presented with a good extraction. All of the 4 children with BA, who had either pre- or postoperatively a bad extraction, needed liver transplantation due to liver failure. Both of the two newborns with BA and favourable outcome after Kasai had a good extraction in the preoperative HBS and demonstrated good intestinal drainage in the postoperative scan. Conclusion: HBS rules out BA with high accuracy by demonstrating drainage of bile into the intestine. In newborns without drainage a good extraction favours the diagnosis of BA. In newborns with BA a bad extraction seems to indicate a poor postoperative prognosis after Kasai operation. HBS might therefore help to select those children who will not benefit from portoenterostomy. Postoperatively, HBS can easily and quickly confirm the successful hepatobiliary anastomosis by demonstrating biliary drainage into the intestine. (orig.) [de

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

    Science.gov (United States)

    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

  20. Absent pulmonary valve, tricuspid atresia, and congenital heart block.

    Science.gov (United States)

    Juaneda, Ignacio; Rychik, Jack; Fuller, Stephanie; Weinberg, Paul M; Rome, Jonathan J; Mahle, William T; Gaynor, J William

    2015-01-01

    We describe management of a patient with a prenatal diagnosis of absent pulmonary valve, tricuspid atresia, ventricular septal defect, and congenital heart block. Initial treatment consisted of temporary pacemaker implantation, and subsequent palliation included a central shunt during the neonatal period and placement of a permanent pacemaker. At seven months of age, a bidirectional Glenn anastomosis was performed. Cardiac catheterization revealed high cavopulmonary pressures and ventricular dysfunction precluding Fontan completion. Heart transplantation was performed at 3.75 years of age. The patient is alive and well 26 months posttransplantation. © The Author(s) 2014.

  1. Type I biliary atresia without extrahepatic biliary cyst

    Energy Technology Data Exchange (ETDEWEB)

    Komuro, Hiroaki; Kudo, Toyoichiro; Jinbo, Takahiro; Hori, Tetsuo; Tatekawa, Yukihiro; Kudou, Sumi; Urita, Yasuhisa; Kaneko, Michio [University of Tsukuba, Department of Paediatric Surgery, Institute of Clinical Medicine, Tsukuba, Ibaraki (Japan)

    2008-08-15

    Currently, magnetic resonance cholangiography (MRC) is used for the differentiation of biliary atresia (BA) from other causes of infantile cholestasis. The authors present a case of type I BA without an extrahepatic biliary cyst in a 2-month-old girl. MRC clearly visualized the patency of the gallbladder, cystic duct, and hepatic ducts with disappearance of the common bile duct. Intraoperative cholangiography demonstrated a cloudy appearance of the intrahepatic bile ducts, confirming the diagnosis of type I BA. We believe that this is the first reported case of type I BA without an extrahepatic biliary cyst diagnosed by MRC. (orig.)

  2. Diagnosis and evaluation of esophageal atresia by direct sagittal CT

    International Nuclear Information System (INIS)

    Tam, P.K.H.; Saing, H.; Chan, F.L.

    1987-01-01

    Direct sagittal CT is possible in newborns because of their small body-size. With this noninvasive investigation, we were able to establish a correct diagnosis in two neonates with esophageal atresia. Moreover, the demonstration of the air-filled proximal pouch and distal tracheoesophageal fistula along their whole lengths allowed exclusion of the possibility of a proximal pouch fistula and gave knowledge of the exact distance of the two segments of the esophagus needed to be bridged to allow anastomosis, thus providing additional valuable information for the surgeon preoperatively.

  3. Bronchial atresia in a neonate with congenital cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Abdullah A Yousef

    2013-01-01

    Full Text Available Bronchial atresia (BA is characterized by a mucus-filled bronchocele in a blind-ending segmental or lobar bronchus with hyperinflation of the obstructed segment of the lung. We describe a neonate who presented on his 9 th day of life with respiratory distress. Chest computed tomography showed a soft tissue density involving the right middle lobe (RML. RML lobectomy confirmed the diagnosis of BA. Cytomegalovirus was detected by polymerase chain reaction in blood, urine, and tracheal aspirates which may provide further insight into the pathogenesis of BA.

  4. Type I biliary atresia without extrahepatic biliary cyst

    International Nuclear Information System (INIS)

    Komuro, Hiroaki; Kudo, Toyoichiro; Jinbo, Takahiro; Hori, Tetsuo; Tatekawa, Yukihiro; Kudou, Sumi; Urita, Yasuhisa; Kaneko, Michio

    2008-01-01

    Currently, magnetic resonance cholangiography (MRC) is used for the differentiation of biliary atresia (BA) from other causes of infantile cholestasis. The authors present a case of type I BA without an extrahepatic biliary cyst in a 2-month-old girl. MRC clearly visualized the patency of the gallbladder, cystic duct, and hepatic ducts with disappearance of the common bile duct. Intraoperative cholangiography demonstrated a cloudy appearance of the intrahepatic bile ducts, confirming the diagnosis of type I BA. We believe that this is the first reported case of type I BA without an extrahepatic biliary cyst diagnosed by MRC. (orig.)

  5. Intestinal Ischemia

    Science.gov (United States)

    ... weight loss Intestinal ischemia Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  6. Intestinal Coccidia

    OpenAIRE

    MJ Ggaravi

    2007-01-01

    Intestinal Coccidia are a subclass of Apicomplexa phylum. Eucoccidida are facultative heteroxenous, but some of them are monoxenous. They have sexual and asexual life cycle. Some coccidia are human pathogens, for example: Cryptosporidium: Cryptosporidiums has many species that are mammalian intestinal parasites.C. Parvum specie is a human pathogenic protozoa. Cryptosporidum has circle or ellipse shapes and nearly 4-6 mm. It is transmitted in warm seasons. Oocyst is obtained insexual life cycl...

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

    Energy Technology Data Exchange (ETDEWEB)

    Lamb, N.E.; Feingold, E.; Sherman, S.L. [Emory Univ., Altanta, GA (United States)

    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.

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

    Science.gov (United States)

    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.

  9. Utility of Shear Wave Elastography for Differentiating Biliary Atresia From Infantile Hepatitis Syndrome.

    Science.gov (United States)

    Wang, Xiaoman; Qian, Linxue; Jia, Liqun; Bellah, Richard; Wang, Ning; Xin, Yue; Liu, Qinglin

    2016-07-01

    The purpose of this study was to investigate the potential utility of shear wave elastography (SWE) for diagnosis of biliary atresia and for differentiating biliary atresia from infantile hepatitis syndrome by measuring liver stiffness. Thirty-eight patients with biliary atresia and 17 patients with infantile hepatitis syndrome were included, along with 31 healthy control infants. The 3 groups underwent SWE. The hepatic tissue of each patient with biliary atresia had been surgically biopsied. Statistical analyses for mean values of the 3 groups were performed. Optimum cutoff values using SWE for differentiation between the biliary atresia and control groups were calculated by a receiver operating characteristic (ROC) analysis. The mean SWE values ± SD for the 3 groups were as follows: biliary atresia group, 20.46 ± 10.19 kPa; infantile hepatitis syndrome group, 6.29 ± 0.99 kPa; and control group, 6.41 ± 1.08 kPa. The mean SWE value for the biliary atresia group was higher than the values for the control and infantile hepatitis syndrome groups (P syndrome groups were not statistically different. The ROC analysis showed a cutoff value of 8.68 kPa for differentiation between the biliary atresia and control groups. The area under the ROC curve was 0.997, with sensitivity of 97.4%, specificity of 100%, a positive predictive value of 100%, and a negative predictive value of 96.9%. Correlation analysis suggested a positive correlation between SWE values and age for patients with biliary atresia, with a Pearson correlation coefficient of 0.463 (P syndrome.

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

    Science.gov (United States)

    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.

  11. Small Intestine Disorders

    Science.gov (United States)

    ... disease Crohn's disease Infections Intestinal cancer Intestinal obstruction Irritable bowel syndrome Ulcers, such as peptic ulcer Treatment of disorders of the small intestine depends on the cause.

  12. Computer-aided virtual surgery for congenital aural atresia.

    Science.gov (United States)

    Smouha, E E; Chen, D; Li, B; Liang, Z

    2001-03-01

    Computer-enhanced three-dimensional (3D) computed tomography (CT) provides accurate spatial representation of the complex surgical anatomy of congenitally atretic ears, and is superior to conventional CT for surgical planning. The surgical repair of congenital aural atresia is challenging. Conventional CT, routinely used for surgical planning, is limited in its ability to represent spatial relationships between important structures. Because of the lack of density differences between bony structures in the ear, 3D CT has thus far been useful for representing surface contour but not internal anatomy. A two-level segmentation scheme was developed to distinguish structures in the temporal bone. 3D CT reconstructions of congenital ears were produced with a high-resolution helical scanner. An interactive tool was used to mark the ossicles and facial nerve. The segmentation scheme was used to color-enhance the ossicles and otic capsule, and render the surrounding bone translucent. "Virtual surgery" was then performed by subtracting a cylindrical volume of bone lateral to the atresia plate. The enhanced 3D CT reconstructions were correlated with intraoperative video recordings. In four congenital ears, computer-enhanced 3D CT was highly predictive of the actual anatomy. Surgery was avoided in two anatomically unfavorable cases. Computer-enhanced 3D CT is a major advance over conventional CT for demonstrating the complex spatial relationships in congenitally atretic ears.

  13. Abnormalities of intrahepatic bile ducts in extrahepatic biliary atresia.

    Science.gov (United States)

    Raweily, E A; Gibson, A A; Burt, A D

    1990-12-01

    The infantile cholangiopathies are a group of conditions associated with neonatal jaundice, which include extrahepatic biliary atresia, paucity of intra-hepatic bile ducts and disorders associated with persistence of fetal biliary structures, the so-called ductal plate malformations. Although previously regarded as distinct entities, it has recently been suggested that they may represent parts of a disease spectrum in which the principal process is one of bile duct destruction, the morphological manifestations in individual cases being influenced by the stage of intra-uterine development at which such injury occurs and by the site within the biliary system at which there is maximum damage. To further examine this concept, we have studied liver biopsy specimens from 37 neonates with extrahepatic biliary atresia, with particular reference to abnormalities of the intrahepatic bile ducts. Paucity of intrahepatic ducts, defined as a bile duct: portal tract ratio of less than 0.9, was identified in six cases (16.2%). In eight cases (21.6%) we found concentric tubular ductal structures similar to those observed in ductal plate malformations. In one case, both abnormalities could be demonstrated. Our findings support the concept that there is overlap between the various types of infantile cholangiopathy.

  14. Fetal stomach paracentesis in combined duodenal and esophageal atresia.

    Science.gov (United States)

    Kadohira, Ikuko; Miyakoshi, Kei; Shimojima, Naoki; Matsumoto, Tadashi; Minegishi, Kazuhiro; Tanaka, Mamoru; Kuroda, Tatsuo; Yoshimura, Yasunori

    2014-07-01

    Fetuses with concomitant duodenal atresia (DA) and esophageal atresia (EA) might develop in utero gastric rupture as well as neonatal respiratory complication due to dilated stomach and duodenum. Our patient with the typical "double bubble" appearance was highly suspected to have DA in the second trimester. Follow-up examinations revealed a massively dilated stomach and duodenum with a dilated distal esophagus, indicating concomitant DA and EA. With advancing pregnancy, the fetal abdomen progressively increased in size by retention of fluid in the closed loop of DA and EA. To avoid gastric perforation, prenatal stomach paracentesis using an ultrasound-guided needle was performed three times until delivery. A male neonate born at 37 weeks gestation showed no respiratory complication. Perinatal clinical features and operative findings revealed combined DA and EA (gross type A). He was successfully managed with duodenoduodenostomy, followed by esophago-esophagostomy. On fetal sonography, the marked "double bubble" appearance and the cystic structure presenting peristalsis-like movement above the diaphragm were indicative of concomitant DA and EA. Fetal stomach paracentesis could contribute to the improvement of perinatal outcomes in fetuses with this pathological condition.

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

  17. A novel and simple method using a transanal intestinal long tube for protecting intestinal anastomosis and decompressing the small bowel

    Science.gov (United States)

    2017-01-01

    Purpose I introduce the use of transanal intestinal long tube (TILT) using nasogastric tube. TILT passes from anus to the anastomosis, helping to decompress a dilated bowel loop. Methods TILT procedure was limited to those patients predicting a severe luminal size discrepancy after intestinal anastomosis, and who had postoperative prolonged ileus. We retrospectively reviewed the medical records of 10 infants (7 male an 3 female patients) who were treated using the TILT procedure between 2012 and 2016. Results Median gestational age was 27+5 weeks and birth weight was 940 g. The first operation was done at a median of 4.5 days after birth due to necrotizing enterocolitis perforation (4 cases), isolated intestinal perforation (3 cases), meconium related ileus (1 case), congenital ileal volvulus (1 case), and ileal atresia (1 case). Nine cases of ileostomy closure were planned at a median of 130.5 days with a body weight of 3,060 g. For the ileal atresia case, TILT procedure without additional small bowel resection was performed to treat postoperative prolonged ileus. Nine out of ten were well functioned and defecation via anus was observed in a median of 4.5 days. Milk feeding began at a median of 6 days and the long intestinal tube was removed in a median of 14.5 days. Conclusion I suggested that TILT procedure could be a noninvasive operative option, predicting of size mismatched anastomosis causing prolonged ileus. Passive drainage of proximal intestinal contents might be helpful for decompress endoluminal pressure during the time of anastomosis healing with bowel movement recovery. PMID:28932729

  18. [The complications of intestinal stoma in children].

    Science.gov (United States)

    Minaev, S V; Bykov, N I; Isaeva, A V; Kachanov, A V; Tovkan, E A; Filip'yeva, N V; Gerasimenko, I N

    To investigate the complications of intestinal stoma in children and to develop measures for decrease of their incidence. The study included 152 children with congenital and acquired gastrointestinal pathology requiring surgical treatment with the imposition of intestinal stoma. Atresia of intestinal tube was observed in 28 (18.4%) children, meconium ileus - in 10 (6.6%) cases, Hirschsprung's disease - in 11 (7.2%)cases, anorectal malformations - in 39 (25.7%) cases, multiple malformations - in 11 (7.2%) patients, necrotic enterocolitis - in 56 (36.8%) patients, other reasons - in 7 (4.6%) cases. The average age of patients was 12,3±7,2 days. There were 93 (61.2%) boys and 59 (38.8%) girls. Ileostomy, ileocolostomy and colostomy were made in 37 (24.3%), 46 (30.3%) and 69 (45.4%) cases respectively. Time of intestinal stoma function was 18-217 days. Early complications were dehiscence in the area of stoma in 4 (2.6%) children, evagination in 7 (4.6%) patients, marginal necrosis of stoma in 2 (1.3%) cases, retraction of stomy into abdominal cavity in 1 (0.6%) child and abdominal skin maceration in 8 (5.2%) patients. Remote complications included dermatitis around stomy in 35 (23.1%) children, stenosis of stoma in 9 (5.9%) cases, evagination of stoma in 12 (7.9%) patients. Also, 5 patients were unable to use the colostomy bag due to vicious overlaying of intestinal stoma. Using the colostomy bags «Coloplast» and skin care products around the stoma significantly reduced (pstoma depends on not only technical aspects but also obligatory care performance with timely correction of complications.

  19. 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

    DEFF Research Database (Denmark)

    Bjørsum-Meyer, Thomas; Herlin, Morten; Qvist, Niels

    2016-01-01

    Background: 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. Case presentation: Our first case was a white girl...

  20. Tracheal left mainstem bronchus and obstructive gastric mucosal intussusception associated with esophageal atresia

    NARCIS (Netherlands)

    Tan, C. J.; Aronson, D. C.; Ekkelkamp, S.; van de Heide-Jalving, M.; Vos, A.

    1995-01-01

    A tracheal left mainstem bronchus and gastric outlet obstruction owing to gastric mucosal intussusception occurred in a child who had esophageal atresia and tracheoesophageal fistula. Bronchography and bronchoscopy, indicated because of persisting atelectasis and ventilation dependency, showed a

  1. Less-invasive MR indices of clinically evident esophageal variceal bleeding in biliary atresia patients

    Directory of Open Access Journals (Sweden)

    Yuan Heng Mo

    2012-09-01

    Conclusion: Less-invasive indices, including the corrected splenic length platelet ratio and the splenic volume index-to-platelet count ratio, may be valuable predictors of esophageal variceal bleeding in patients with biliary atresia.

  2. Incidental Finding of Inferior Vena Cava Atresia Presenting with Deep Venous Thrombosis following Physical Exertion

    OpenAIRE

    Koppisetty, Shalini; Smith, Alton G.; Dhillon, Ravneet K.

    2015-01-01

    Inferior vena cava atresia (IVCA) is a rare but well described vascular anomaly. It is a rare risk factor for deep venous thrombosis (DVT), found in approximately 5% of cases of unprovoked lower extremity (LE) DVT in patients

  3. Increased conjugated bilirubin is sufficient to initiate screening for biliary atresia

    DEFF Research Database (Denmark)

    Madsen, Stine Skipper; Kvist, Nina; Thorup, Jørgen

    2015-01-01

    INTRODUCTION: Biliary atresia is the leading cause of liver transplantation in children. It affects 1:15,000 in Denmark. With a national birth rate of 60,000, four children are born every year with biliary atresia. Early correction of biliary obstruction is essential to prevent fatal biliary...... cirrhosis. The Danish Health and Medicines Authority (DHMA) demands diagnostic evaluation of children with elevated level of serum bilirubin after two weeks of age. Biliary atresia has to be excluded if conjugated bilirubin level is above than 20 μmol/l, and/or more than 20% of total bilirubin....... This percentage value has caused diagnostic trouble over the years. The objective of the present study was to investigate the possibility of changing the recommendations. METHODS: This was a retrospective analysis of the medical records of children operated for biliary atresia in the 1993-2012 period. RESULTS...

  4. CT angiography of mildly symptomatic, isolated, unilateral right pulmonary vein atresia

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    Mataciunas, Mindaugas; Tamosiunas, Algirdas E. [Vilnius University, Faculty of Medicine, Clinic of Thoracic Diseases, Allergology and Radiology, Vilnius (Lithuania); Gumbiene, Lina; Cibiras, Sigitas; Tarutis, Virgilijus [Vilnius University, Faculty of Medicine, Clinic of Cardiac and Vascular Diseases, Vilnius (Lithuania)

    2009-10-15

    We report a mildly symptomatic 12-year-old boy with a very rare congenital anomaly - isolated unilateral pulmonary vein atresia. Diagnosis was made using CT angiography and its role in diagnosis is discussed. (orig.)

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

    Science.gov (United States)

    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. Copyright © 2012 Elsevier Inc. All rights reserved.

  6. Seasonal prevalence and intensity of follicular atresia in Baltic cod Gadus morhua callarias L

    DEFF Research Database (Denmark)

    Kraus, Gerd; Tomkiewicz, Jonna; Diekmann, R.

    2008-01-01

    In the present study, 307 ovaries of eastern Baltic cod Gadus morhua callarias sampled during the prespawning and spawning season 2000 were analysed histologically to estimate the seasonal prevalence and intensity of atresia. The number of atretic oocytes per ovary was estimated using a combination...... of the physical disector method and volume fraction (Delesse principle). Atretic oocytes were observed in 32% of the ovaries. Prevalence of atresia was independent of female size, but increased significantly with declining female condition from prespawning and through the spawning stages. The relative intensity...... of atresia, i.e. number of atretic oocytes in relation to normally developed vitellogenic oocytes, was low amounting to 1.4% on average. Similar to prevalence, relative intensity of atresia differed significantly between maturity stages and increased with decreasing female condition. The population egg loss...

  7. Cellular and Humoral Autoimmunity Directed at Bile Duct Epithelia in Murine Biliary Atresia

    OpenAIRE

    Mack, Cara L.; Tucker, Rebecca M.; Lu, Brandy R.; Sokol, Ronald J.; Fontenot, Andrew P.; Ueno, Yoshiyuki; Gill, Ronald G.

    2006-01-01

    Biliary atresia is an inflammatory fibrosclerosing lesion of the bile ducts that leads to biliary cirrhosis and is the most frequent indication for liver transplantation in children. The pathogenesis of biliary atresia is not known; one theory is that of a virus-induced, subsequent autoimmune-mediated injury of bile ducts. The aim of this study was to determine whether autoreactive T cells and autoantibodies specific to bile duct epithelia are present in the rotavirus (RRV)- induced murine mo...

  8. Cholangiocyte cilia are abnormal in syndromic and non-syndromic biliary atresia

    Science.gov (United States)

    Chu, Andrew S.; Russo, Pierre A.; Wells, Rebecca G.

    2011-01-01

    Biliary atresia is a neonatal disorder characterized by aggressive fibroinflammatory obliteration of the biliary tract. Approximately 20 percent of biliary atresia patients demonstrate left-right laterality defects (syndromic biliary atresia). Cilia participate in important physiologic functions in cholangiocytes, and since some ciliopathies have been associated with both laterality defects and hepatic fibrosis, we hypothesized that patients with syndromic biliary atresia exhibit abnormalities of cholangiocyte cilia that disrupt cholangiocyte homeostasis. Nine biliary atresia specimens were studied, including pre-Kasai diagnostic biopsies (n=7) and liver explants (n=2). Five specimens were from patients with laterality defects. These were compared to normal pediatric livers as well as livers affected by primary sclerosing cholangitis, Wilson’s disease, and cardiac cirrhosis. Biopsy sections were stained with antibodies against keratin 19 (a cholangiocyte marker) and acetylated α-tubulin (a cilia marker) and were visualized by confocal microscopy. Computer-assisted relative quantification was used to compare staining of cilia within bile ducts among samples. Surprisingly, cilia in biliary atresia specimens were significantly shorter, abnormal in their orientation, and less abundant compared to normal liver and disease controls regardless of the presence of a laterality defect. Conclusion There are significant abnormalities of cholangiocyte cilia in both syndromic and non-syndromic biliary atresia livers compared to normal livers and livers affected by other cholestatic diseases. While this may result from severe cholestasis or inflammation, it may also reflect common mechanistic pathways in different forms of biliary atresia and may have important implications for understanding the progression of the disease. PMID:22301700

  9. Dysphagia among Adult Patients who Underwent Surgery for Esophageal Atresia at Birth

    Directory of Open Access Journals (Sweden)

    Valérie Huynh-Trudeau

    2015-01-01

    Full Text Available BACKGROUND: Clinical experiences of adults who underwent surgery for esophageal atresia at birth is limited. There is some evidence that suggests considerable long-term morbidity, partly because of dysphagia, which has been reported in up to 85% of adult patients who undergo surgery for esophageal atresia. The authors hypothesized that dysphagia in this population is caused by dysmotility and/or anatomical anomalies.

  10. Anesthetic management for surgery of esophagus atresia in a newborn with Goldenhar's syndrome

    OpenAIRE

    Guerrero-Domínguez, Rosana; López-Herrera-Rodríguez, Daniel; Benítez-Linero, Inmaculada; Ontanilla, Antonio

    2015-01-01

    BACKGROUND AND OBJECTIVES: Goldenhar's syndrome is a polymalformative condition consisting of a craniofacial dysostosis that determines difficult airway in up to 40% of cases. We described a case of a newborn with Goldenhar's syndrome with esophageal atresia and tracheoesophageal fistula who underwent repair surgery.CASE REPORT: We report the case of a 24-h-old newborn with Goldenhar's syndrome. He had esophageal atresia with distal tracheoesophageal fistula. It was decided that an emergency ...

  11. Ovarian Follicular Atresia of Ewes during Spring Puerperium

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    Radoslava Vlčková

    2012-01-01

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

  12. Persistent bronchography in a newborn with esophageal atresia

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    Giuseppe De Bernardo, MD

    2016-06-01

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

  13. Dysmotility in Esophageal Atresia: Pathophysiology, Characterization, and Treatment

    Science.gov (United States)

    Faure, Christophe; Righini Grunder, Franziska

    2017-01-01

    Esophageal dysmotility is almost universal after esophageal atresia (EA) repair and is mainly related to the developmental anomaly of the esophagus. Esophageal dysmotility is involved in the pathophysiology of numerous symptoms and comorbidities associated with EA such as gastroesophageal reflux disease, aspiration and respiratory complications, and symptoms of dysphagia and feeding disorders. High-resolution esophageal manometry (HREM) has facilitated the characterization of the dysmotility, but there is an incomplete correlation between symptoms and manometrical patterns. Impedance coupled to HREM should help to predict the clinical outcome and therefore personalize patient management. Nowadays, the management of esophageal dysmotility in patients with EA is essentially based on treatment of associated inflammation related to peptic or eosinophilic esophagitis. PMID:28620599

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

    Science.gov (United States)

    Bessho, Kazuhiko; Bezerra, Jorge A.

    2014-01-01

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

  15. Accelerating virtual surgery simulation for congenital aural atresia

    Science.gov (United States)

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

    2004-05-01

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

  16. Atresia pulmonar con comunicación interventricular

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    Tomasa Centella Hernández

    2014-04-01

    Full Text Available La atresia pulmonar con comunicación interventricular es una cardiopatía congénita cianótica, severa y rara, de alta complejidad, que se caracteriza por la ausencia de conexión entre el ventrículo derecho y las arterias pulmonares. Coexiste con una comunicación interventricular. El flujo hacia el territorio pulmonar puede realizarse a través del ductus arterioso o de colaterales sistémico-pulmonares. La dificultad de esta cardiopatía viene determinada por los diferentes niveles de interrupción desde el ventrículo derecho hasta el territorio pulmonar, y por la diferencia anatómica de las fuentes del flujo hacia dicho territorio, lo que determina diferentes tipos de abordaje quirúrgico.

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

    Science.gov (United States)

    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 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.

  18. Congenital pyloric atresia: Early and delayed presentations-A single centre experience of a rare anomaly.

    Science.gov (United States)

    Kajal, Pradeep; Rattan, Kamal Nain; Bhutani, Namita; Yadav, Poonam

    2016-05-01

    Pyloric atresia may occur as an isolated or pure atresia or may be associated with other anomalies like those involving skin, renal or gastrointestinal systems etc. The most frequent association is with junctional epidermolysis bullosa, a rare autosomal recessive disorder affecting the skin and mucosa. We present a prospective evaluation of three patients of pyloric atresia at our institute over last 2 years (2012-2014)-one of them presenting at 5th day of life and the other two at 5 and 6 years of age, respectively. Two of them did not have any other associated anomaly whereas one patient had incidental finding of Meckel's diverticulum at the time of surgery for pyloric atresia plus he had been operated upon for right-sided pelvioureteric junction obstruction at 1 year of age. All patients underwent laparotomy after stabilization. The two patients presenting late had type 1 pyloric atresia with a pyloric membrane having a central hole in both the patients. So, excision of the membrane with Heineke Mikulicz pyloroplasty was done in both of them. The neonate who presented early had type 2 pyloric atresia and underwent Finney's pyloroplasty.

  19. Colonic atresia and anorectal malformation in a Haitian patient: a case study of rare diseases.

    Science.gov (United States)

    Derenoncourt, Max Herby; Baltazar, Gerard; Lubell, Tamar; Ruscica, Alice; Sahyoun, Cyril; Velcek, Francisca

    2014-01-01

    Colonic atresia and anorectal malformation are rare congenital anomalies individually. Few reports of the conditions combined in a single patient have been published in the literature. Neither colonic atresia, anorectal malformation or a combination of the disorders has previously been reported in the Haitian population. A 5-day-old female presented with feculent emesis, failure to pass stool since birth and an imperforate and stenotic anus. Exploratory laparotomy revealed colorectal atresia distal to a malformed cecum and a Wingspread low subtype anorectal malformation without any associated urogenital fistulae. Temporizing percutaneous ileal drainage was followed by second-stage anal perforation and dilation, ileal J-pouch and pull through. This is the first reported case of colonic atresia, anorectal malformation or the combination of the disorders among the Haitian population and one of only a handful of such cases reported worldwide. Although vascular accidents in utero have been implicated as the etiology of colonic atresia, simultaneous presence of anorectal malformation suggests a multifactorial cause. Investigation for multisystem abnormalities is warranted. Two-staged operative correction is considered the best treatment; however, long-term postoperative outcomes are uncertain. The coexistence of colonic atresia and anorectal malformation is a very rare occurrence and presents unique clinical and operative challenges. Investigation for additional congenital abnormalities is appropriate, and although two-stage operative correction is considered the best treatment, long-term outcomes are uncertain.

  20. 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.

    Science.gov (United States)

    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

  1. Functional pulmonary atresia in newborn with normal intracardiac anatomy: Successful treatment with inhaled nitric oxide and pulmonary vasodilators

    Directory of Open Access Journals (Sweden)

    Gürkan Altun

    2013-01-01

    Full Text Available Functional pulmonary atresia is characterized by a structurally normal pulmonary valve that does not open during right ventricular ejection. It is usually associated with Ebstein′s anomaly, Uhl′s anomaly, neonatal Marfan syndrome and tricuspid valve dysplasia. However, functional pulmonary atresia is rarely reported in newborn with anatomically normal heart. We report a newborn with functional pulmonary atresia who had normal intracardiac anatomy, who responded to treatment with nitric oxide and other vasodilator therapy successfully.

  2. Tricuspid atresia associated with truncus arteriosus versus aortopulmonary window: combining fetal and postnatal echocardiography to make the diagnosis.

    Science.gov (United States)

    Hauck, Amanda; da Cruz, Eduardo M; Jaggers, James; Jone, Pei-Ni

    2013-11-01

    The coincident occurrence of tricuspid atresia and aortopulmonary window (APW) is exceedingly rare, with one previous case reported in the literature. We present a patient with tricuspid atresia, pulmonary atresia, and APW. Postnatal echocardiograms demonstrated no visible pulmonary valve, and additional defects including a bicuspid aortic valve, right aortic arch and anomalous coronary arteries raised suspicion for tricuspid atresia with persistent truncus arteriosus. However, fetal echocardiography and direct visualization of the anatomy confirmed the alternate diagnosis. The patient underwent successful palliation consisting of APW repair, atrial septectomy and a 3.5 mm modified Blalock-Taussig shunt, followed by a bidirectional cavopulmonary connection. © 2013, Wiley Periodicals, Inc.

  3. Supra-transumbilical laparotomy (STL approach for small bowel atresia repair: Our experience and review of the literature

    Directory of Open Access Journals (Sweden)

    Ernesto Leva

    2013-01-01

    Full Text Available Background: Supra-Transumbilical Laparotomy (STL has been used in paediatric surgery for a broad spectrum of abdominal procedures. We report our experience with STL approach for small bowel atresia repair in newborns and review previous published series on the topic. Patients and Methods: Fourteen patients with small bowel atresia were treated via STL approach at our Institution over a 5-year period and their charts were retrospectively reviewed. Results: STL procedure was performed at mean age of 3.1 day. No malrotation disorders were detected with pre-operative contrast enema. Eight patients (54.1% presented jejunal atresia, five (35.7% ileal atresia, and one (7.1% multiple ileal and jejunal atresias. Standard repair with primary end-to-back anastomosis was performed in all but one patient. In the newborn with multiple atresia, STL incision was converted in supra-umbilical transverse incision due to difficulty of exposition. After surgery, one patient developed anastomotic stricture, and another developed occlusion due to adhesions: Both infants required second laparotomy. No infections of the umbilical site were recorded, and cosmetic results were excellent in all patients. Conclusions: Increasing evidence suggests that STL approach for small bowel atresia is feasible, safe and provides adequate exposure for small bowel atresia surgery. When malrotation and colonic/multiple atresia are pre-operatively ruled out, STL procedure can be choosen as first approach.

  4. Atresia das vias biliares extra-hepáticas: conhecimentos atuais e perspectivas futuras Extrahepatic biliary atresia: current concepts and future directions

    Directory of Open Access Journals (Sweden)

    Elisa de Carvalho

    2007-04-01

    Full Text Available OBJETIVOS: Apresentar uma revisão atualizada sobre atresia das vias biliares extra-hepáticas, com ênfase em etiopatogenia, abordagens diagnósticas e terapêuticas e prognóstico. FONTES DOS DADOS: Foram selecionadas pelos sites de busca médica (MEDLINE e PubMed pesquisas relacionadas à atresia biliar, utilizando as seguintes palavras-chave: biliary atresia,etiopathogenesis, diagnosis, treatment, prognosis, children. SÍNTESE DOS DADOS A atresia das vias biliares extra-hepáticas é a principal indicação de transplante hepático na faixa etária pediátrica. Quanto à etiologia, o citomegalovírus, o reovírus e o rotavírus têm sido os agentes mais estudados como possíveis desencadeadores da obstrução imunomediada da árvore biliar. A resposta imune, especialmente o predomínio da resposta TH1 e do interferon gama, a susceptibilidade genética e as alterações do desenvolvimento embrionário da árvore biliar são aspectos que podem participar na etiopatogênese da obliteração das vias biliares extra-hepáticas. Ainda hoje, o único tratamento disponível é a portoenterostomia, cujos resultados são melhores quando realizada nos primeiros 2 meses de vida. Em relação ao prognóstico, as crianças não tratadas vão a óbito na totalidade, por complicações relacionadas à hipertensão portal e à cirrose hepática, e mesmo os casos tratados necessitam, em sua maioria, do transplante hepático. CONCLUSÃO: A atresia das vias biliares extra-hepáticas continua sendo a principal indicação de transplante hepático em crianças, e a mudança deste panorama depende de um melhor entendimento da etiopatogenia da obstrução biliar nos diferentes fenótipos da doença. Investigações futuras a respeito do papel do interferon gama e de outras citocinas são necessárias para avaliar se esses aspectos seriam potenciais alvos de intervenção terapêutica.OBJECTIVE: To provide an updated review on extrahepatic biliary atresia, focusing

  5. Ultrasonographic differentiation of biliary atresia and neonatal hepatitis: Reestablishment of size criteria of the gallbladder

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Woo Sun; Cheon, Jung Eun; Koh, Young Hwan; Kim, In One; Yeon, Kyung Mo [Seoul National University College of Medicine and Institude of Radiation Medicion, Seoul (Korea, Republic of)

    2001-12-15

    To reestablish the size criterion of the gallbladder on ultrasonography (US) for the differentiation diagnosis of biliary atresia from neonatal hepatitis. Abdominal US ws performed in 201 patients with jaundice and 40 patients without evidence of jaundice or hepatobiliary illness (all with the age less than 4 months). US was performed in fasting (fasting for at least 4 hours) to measure the length of the gallbladder and calculated the area of the gallbladder lumen. The morphology of the gallbladder was classified into three types: normal, elongated and atretic. To evaluate the contractibility of the gallbladder, the length of the gallbladder and area of the gallbladder lumen was again measured 1 hour after feeding. The final diagnosis included biliary atresia in 79 patients and neonatal hepatitis in 83 patients. Differences in the length, area, and morphology of the gallbladder were statistically significant among three groups, the normal group, neonatal hepatitis group and biliary atresia group (length and area of gallbladder; normal group>neonatal hepatitis>biliary atresia). The differences in the length and area of gallbladder between pre- and postmeal state were statistically significant in the normal and neonatal hepatitis groups whereas those of biliary atresia were not significant (p=0.85). When the empirical size criterion of the gallbladder (<15 mm in length) was applied, the sensitivity, specificity and diagnostic accuracy for the differential diagnosis of biliary atresia from hepatitis were 52%, 82%, and 67%, respectively. Meanwhile, if the area criterion(<30 mm{sup 2} in area) was applied, the sensitivity, the specificity and diagnostic accuracy were 67%, 85%, and 75%, respectively. Ultrasonographic evaluation of the morphology as well as size of the gallbladder are helpful in the differential diagnosis of biliary atresia from neonatal hepatitis. Therefore, since the measurement of the area of gallbladder lumen on US reflect both size and morphology of

  6. Impact of unilateral conductive hearing loss due to aural atresia on academic performance in children.

    Science.gov (United States)

    Kesser, Bradley W; Krook, Kaelyn; Gray, Lincoln C

    2013-09-01

    This study evaluates the effect of unilateral conductive hearing loss secondary to aural atresia on elementary school children's academic performance. Case control survey and review of audiometric data. One hundred thirty-two surveys were mailed to families of children with aural atresia, and 48 surveys were sent to families of children with unilateral sensorineural hearing loss (SNHL) to identify rates of grade retention, use of any resource, and behavioral problems. Audiometric data of the cohort were tabulated. Of the 40 atresia patients, none repeated a grade, but 65% needed some resources: 12.5% currently use a hearing aid, 32.5% use(d) a frequency-modulated system in school, 47.5% had an Individualized Education Plan, and 45% utilized speech therapy. Compared to the unilateral SNHL group and a cohort of children with unilateral SNHL in an earlier study, children with unilateral atresia were less likely to repeat a grade. Children in both unilateral atresia and SNHL groups were more likely to utilize some resource in the academic setting compared to the unilateral SNHL children in the prior study. Unilateral conductive hearing loss due to aural atresia has an impact on academic performance in children, although not as profound when compared to children with unilateral SNHL. The majority of these children with unilateral atresia utilize resources in the school setting. Parents, educators, and health care professionals should be aware of the impact of unilateral conductive hearing loss and offer appropriate habilitative services. Copyright © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

  7. VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement.

    Science.gov (United States)

    Carli, Diana; Garagnani, Lorenzo; Lando, Mario; Fairplay, Tracy; Bernasconi, Sergio; Landi, Antonio; Percesepe, Antonio

    2014-03-01

    To review the clinical characteristics in a series of 25 patients with VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association who were ascertained for upper limb involvement. The study involved a review of clinical and radiologic data from patients with VACTERL association collected by a hand surgery clinic between 2004 and 2013. Radial axis involvement was found in all 25 patients (100%), with severe thumb function impairment in 79% and complete absence of the radius in roughly 33%. Costovertebral anomalies were the most frequent feature, found in 23 patients (92%). All 3 core features (anal atresia, tracheoesophageal fistula with esophageal atresia, and costovertebral anomalies) were present in only 12% of the patients. Twelve patients (48%) had abnormalities not part of the VACTERL spectrum, showing a specific pattern of non-VACTERL-type malformations, including genitourinary abnormalities (12%), single umbilical artery (8%), and tethered cord (8%). Previously unreported clinical findings were concurrent hypoplasia of both the odontoid process and the coccyx in 2 patients and an isolated sacral dimple in 2 patients. Upper limb involvement in VACTERL association is a specific feature of the radial axis that occurs in monolateral form in approximately 75% of cases and, when bilateral, always occurs in a nonsymmetrical fashion. Odontoid and coccygeal hypoplasia and sacral dimple are newly reported malformations of the VACTERL phenotype. Copyright © 2014 Mosby, Inc. All rights reserved.

  8. Hepatobiliary scintigraphy in diagnosis and follow-up of biliary atresia; Stellenwert der hepatobiliaeren Funktionsszintigrafie in Diagnostik und Nachsorge der Gallengangsatresie

    Energy Technology Data Exchange (ETDEWEB)

    Rossmueller, B.; Knesewitsch, P.; Hahn, K. [Klinik und Poliklinik fuer Nuklearmedizin, Klinikum der Ludwig-Maximilians-Univ. Muenchen (Germany)

    2009-03-15

    In newborns with biliary atresia immediate diagnosis is crucial, as only early portoenterostomie (Kasai) may prevent development of an incurable liver cirrhosis. Hepatobiliary scintigraphy has a major role in diagnostic work up, in prognostic evaluation and in postoperativ follow up of biliary atresia. Indication, technical procedure and interpretation of hepatobiliary scintigraphy in children with suspicion of biliary atresia will be discussed. (orig.)

  9. Prematurity and biliary atresia: a 30-year observational study.

    Science.gov (United States)

    Durkin, Natalie; Deheragoda, Maesha; Davenport, Mark

    2017-12-01

    The diagnosis of biliary atresia (BA) remains challenging and delay can lead to significant morbidity with time to surgery a key factor in determining outcome. Prematurity may impact on outcome potentially delaying diagnosis. We sought to assess whether the premature BA infants (PBA) have a delayed time to surgery and as such, worse outcomes? Review of a single-centre prospectively maintained database. Prematurity was defined as delivery premature and term cohorts. Data are quoted as median (range) unless indicated. A P value of ≤ 0.05 was considered statistically significant. 21 (female n = 14, 67%) premature infants with BA were treated in the period Jan. 1988-Dec. 2016 and compared with 41 contemporaneous term BA controls. Median gestation was 33 (29-36) weeks and birth weight 1930 (948-4230)g. Twin pregnancy (n = 10) was the leading cause for prematurity and significantly higher than the controls (48 vs. 0%; P  50 days) was seen in n = 13 but not associated with parenteral nutrition use (46 vs. 33%, P = 0.59) or phototherapy (50 vs. 83%, P = 0.19). Both BASM (33 vs. 7.5%; P = 0.01) and duodenal atresia (19 vs. 0%; P = 0.01) were seen more frequently in the PBA cohort. Mean fibrosis scores (Ishak) from diagnostic biopsies were lower in the premature group than the control group (2.71 vs. 3.53, P = 0.043) indicating less fibrosis but this equalized by time of subsequent KPE (P = 0.17). Primary surgery was Kasai portoenterostomy (n = 20) at an older median age than controls (65 vs. 56 days; P = 0.06). Liver transplantation was the primary procedure in one late-presenting child. There was an increased but non-significant clearance of jaundice in the PBA group [n = 12/20 (60%) vs 20/41 (48%); P = 0.23] post-KPE. Native liver survival and true survival were not different (P = 0.58 and 0.23). PBA infants have similar outcomes to term infants, despite delayed diagnosis and higher frequency of the

  10. 13 ribs as a predictor of long gap esophageal atresia: myth or reality? Analysis of associated findings of esophageal atresia and abnormal rib count.

    Science.gov (United States)

    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.

  11. Ultrasound-guided percutaneous cholecysto-cholangiography for the exclusion of biliary atresia in infants

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    Shin, Kyung Min; Ryeom, Hun Kyu; Choe, Byung Ho; Kim, Kap Cheol; Kim, Jong Yeol; Lee, Jong Min; Kim, Hye Jeong; Lee, Hee Jung [Kyungpook National University Hospital, Daegu (Korea, Republic of)

    2006-08-15

    The aim of this study is to determine the feasibility and effectiveness of performing an ultrasound-guided percutaneous cholecysto-cholangiogram (PCC) for excluding biliary atresia as the cause of neonatal jaundice. Between Oct. 2003 and Feb. 2005, six ultrasound-guided PCC procedures were performed to five jaundiced infants (4 females and 1 male; mean age: 60 days old) for whom possibility of biliary atresia could not be ruled out by the DISIDA scan as the cause of their neonatal jaundice. Gallbladder puncture was performed under ultrasound guidance with a 23-gauge needle. Contrast material injection during fluoroscopic examination was performed after dilatation of the gallbladder lumen with normal saline under ultrasound guidance. The criteria used for excluding biliary atresia were complete visualization of the extrahepatic biliary trees and/or contrast excretion into the duodenum. The complications and final diagnosis was assessed according to the clinical and laboratory findings. The procedures were successful in all the patients without any complication. Biliary atresia could be ruled out in all the patients. The final diagnosis was neonatal cytomegalovirus hepatitis in two patients, total parenteral nutrition-associated cholestasis in two patients, and combined cytomegalovirus hepatitis and total parenteral nutrition-associated cholestasis in one patient. Ultrasound-guided PCC is a feasible and effective method for the early definitive exclusion of biliary atresia as the cause of neonatal jaundice. By the technique of injecting normal saline before contrast injection, PCC can be done even in a totally collapsed or very small gallbladder.

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

    Directory of Open Access Journals (Sweden)

    Ibrahim Uygun

    2015-01-01

    Full Text Available 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.

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

    Science.gov (United States)

    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.

  14. Biliary Atresia: Indications and Timing of Liver Transplantation and Optimization of Pre-Transplant Care

    Science.gov (United States)

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

    2016-01-01

    Biliary Atresia is a progressive, fibro-obliterative disorder of the intra and extrahepatic bile ducts in infancy. The majority of affected children will eventually develop end-stage liver disease and require liver transplantation. Indications for liver transplant in biliary atresia include failed Kasai portoenterostomy, significant and recalcitrant malnutrition, recurrent cholangitis, and the progressive manifestations of portal hypertension. Extra-hepatic complications of this disease, such as hepatopulmonary syndrome and portopulmonary hypertension, are also indications for liver transplantation. Optimal pre-transplant management of these potentially life threatening complications and maximizing nutrition and growth require the expertise of a multi-disciplinary team with experience caring for biliary atresia. The timing of transplant for biliary atresia requires careful consideration of the potential risk of transplant versus the survival benefit at any given stage of disease. Children with biliary atresia often experience long wait times for transplant unless exception points are granted to reflect severity of disease. Family preparedness for this arduous process is therefore critical. PMID:27650268

  15. [Persistence of left superior vena cava associated to esophageal atresia: presentation of 5 cases].

    Science.gov (United States)

    Knoblich, Maria; Silva, Aline Vaz; Ladeira, Catarina; Carmo, Sara; Murinello, Rafaela; Casella, Paolo

    2014-01-01

    Esophageal atresia is known to be associated with a variety of additional congenital anomalies in multiple organ systems. Persistent left superior vena cava is one of the most common venous thoracic anomaly, occurring in about 0,3% of the population. The aim of this study was to characterize persistent left superior vena cava in infants treated in Hospital Dona Estefânia with esophageal atresia. A retrospective review of all children treated for esophageal atresia from January 2002 to December 2013 was undertaken. Charts were reviewed for gestational age, weight, type of atresia, preoperative echocardiogram, associated anomalies, surgical approach, eventual postoperative echocardiogram and angioresonance for the study of congenital venous anomaly. Of 107 children, five had persistent left superior vena cava. Of the five cases, one had prenatal diagnosis. Further investigation showed duodenal atresia in one, urologic malformation, coloboma and bilateral ear deformities in other. All five patients were operated on through right thoracotomy and primary anastomosis was performed after ligation of the trachea-esophageal fistula and underwent angioresonance to characterize the vascular anomaly. No operative or post-operative complications were registered. Inspite of the preoperative workup, the anomaly was only identified in one of the patients. Generally, diagnosis of PLSVC is incidentally found during routine left-sided central venous catheterizations. It is essential to characterize the pattern of cardiac venous return that places those patients at a risk for paradoxical embolic complications to the arterial system.

  16. Duodenal atresia with apple-peel configuration of the ileum and absent superior mesenteric artery.

    Science.gov (United States)

    Saša, Radović V; Ranko, Lazovic; Snezana, Crnogorac; Lidija, Banjac; Djordje, Suhih

    2016-09-05

    Embryologically, duodenal atresia results from inadequate recanalisation and proliferation of gut epithelius in the 6th week of gestation, while apple-pee atresia of small bowel is a consequence of a vascular accident in subsequent embryonic development, and the two are rather rarely manifested as a joint clinical entity. We present here a 29 week preterm boy admitted to the intensive care unit due to breathing difficulties and low birthweight. Following clinical, radiographic and ultrasound examination, he was diagnosed with duodenal obstruction and subjected to surgical treatment. The exploration of abdominal cavity verified duodenal atresia in the second portion with the absence of third and fourth portions of duodenum, superior mesenteric artery, as well as apple-peel atresia of jejunum. Resection of the apple-peel segment of jejunum was done and the continuity of digestive tube was established by the end-to-end duodeno-ileal anastomosis. This rare case of ours questions the embryology of duodenal atresia suggesting that a mesenteric vascular disruption phenomenon in subsequent embryonic life might be the aetiological factor.

  17. Use of late ovarian atresia in describing spawning history of sardine, Sardina pilchardus

    Science.gov (United States)

    Ganias, K.; Nunes, C.; Stratoudakis, Y.

    2008-11-01

    We investigated and compared the pattern of accumulation of recent and late atretic follicles in the ovaries of Iberian sardine, Sardina pilchardus, in relation to body size with the aim to examine whether late atresia can be used in back-calculations of individual spawning history. Oppositely to earlier stages, late atresia in sardine was shown to accumulate even at peak spawning periods in fish of larger size/age indicating a relationship between atretic intensity and the distant reproductive performance of the individuals. Despite the fact that intensity of late atresia was very high in some occasions, its accumulation was not shown to impede imminent spawning activity. Lack of dependence between imminent spawning activity and the intensity of late atresia was related to the differential pattern with which postovulatory and atretic follicles are associated to the lamellar epithelium of the ovary. Finally, the effect of the 'reference trap' which is a major source of bias when quantifying structures in stereological measurements, could be mediated or even completely removed by using a measure of ovarian growth, such as gonosomatic index in the present study, as a covariate when modeling variability in the intensity of atresia.

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

    Science.gov (United States)

    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. Ultrasound-guided percutaneous cholecysto-cholangiography for the exclusion of biliary atresia in infants

    International Nuclear Information System (INIS)

    Shin, Kyung Min; Ryeom, Hun Kyu; Choe, Byung Ho; Kim, Kap Cheol; Kim, Jong Yeol; Lee, Jong Min; Kim, Hye Jeong; Lee, Hee Jung

    2006-01-01

    The aim of this study is to determine the feasibility and effectiveness of performing an ultrasound-guided percutaneous cholecysto-cholangiogram (PCC) for excluding biliary atresia as the cause of neonatal jaundice. Between Oct. 2003 and Feb. 2005, six ultrasound-guided PCC procedures were performed to five jaundiced infants (4 females and 1 male; mean age: 60 days old) for whom possibility of biliary atresia could not be ruled out by the DISIDA scan as the cause of their neonatal jaundice. Gallbladder puncture was performed under ultrasound guidance with a 23-gauge needle. Contrast material injection during fluoroscopic examination was performed after dilatation of the gallbladder lumen with normal saline under ultrasound guidance. The criteria used for excluding biliary atresia were complete visualization of the extrahepatic biliary trees and/or contrast excretion into the duodenum. The complications and final diagnosis was assessed according to the clinical and laboratory findings. The procedures were successful in all the patients without any complication. Biliary atresia could be ruled out in all the patients. The final diagnosis was neonatal cytomegalovirus hepatitis in two patients, total parenteral nutrition-associated cholestasis in two patients, and combined cytomegalovirus hepatitis and total parenteral nutrition-associated cholestasis in one patient. Ultrasound-guided PCC is a feasible and effective method for the early definitive exclusion of biliary atresia as the cause of neonatal jaundice. By the technique of injecting normal saline before contrast injection, PCC can be done even in a totally collapsed or very small gallbladder

  20. Association of Nasal Nostril Stenosis with Bilateral Choanal Atresia: A Case Report

    Directory of Open Access Journals (Sweden)

    Shahin Abdollahifakhim

    2014-01-01

    Full Text Available Introduction: Neonatal nasal airway obstruction induces various degrees of respiratory distress. The management of this disease, including surgical repair, will depend on the severity and location of the obstruction. We describe here a case of congenital nasal nostril stenosis that required surgical repair for stenting of both nares after coanal atresia repair.   Case Report: A 2 days old female newborn referred to neonatal department of Tabriz Children’s Hospital affiliated to the University of Medical Sciences of Tabriz, Iran on the 3rd of December, 2011 immediately after birth with respiratory distress due to bilateral coanal atresia and nasal hypoplasia with very small nostrils. CT scan showed normal brain and bilateral choanal atresia with normal size Pyriform apertures.   Conclusion: Nasal obstruction can lead to airway compromise and respiratory distress. Congenital bony nasal deformities are being recognized as an important cause of newborn airway obstruction. Nasal hypoplasia is seen in many craniofacial syndromes. Although our patient had hypoplastic nostrils with respiratory distress due to bilateral coanal atresia, correction of hypoplastic nostrils was necessary for completing the operation of choanal atresia.

  1. Intestinal pseudo-obstruction

    Science.gov (United States)

    Primary intestinal pseudo-obstruction; Acute colonic ileus; Colonic pseudo-obstruction; Idiopathic intestinal pseudo-obstruction; Ogilvie syndrome; Chronic intestinal pseudo-obstruction; Paralytic ileus - pseudo-obstruction

  2. Ostial atresia of left circumflex coronary artery arising from non-coronary sinus: a combination of rare anomalies.

    Science.gov (United States)

    Girish, M P; Gupta, Mohit D; Chaturvedi, Vivek; Gupta, Amit; Sethi, Sonali

    2016-10-01

    Atresia of the left coronary artery ostium and right coronary artery ostium is a rare anatomic variant of the coronary circulation. Atresia of the left circumflex artery and its origin of from the non-coronary sinus have never been described. We report this unusual combination of rare anomalies for the first time.

  3. Intestinal myiasis

    Directory of Open Access Journals (Sweden)

    U S Udgaonkar

    2012-01-01

    Full Text Available Purpose: Intestinal myiasis is a condition when the fly larvae inhabit the gastrointestinal tract and are passed out in faeces. This type of infestation results when eggs or larvae of the fly, deposited on food are inadvertently taken by man. They survive the unfavourable conditions within the gastrointestinal tract and produce disturbances, which may vary from mild to severe. The condition is not uncommon and is often misdiagnosed as pinworm infestation. Correct diagnosis by the clinical microbiologist is important to avoid unnecessary treatment. Materials and Methods: We had 7 cases of intestinal myiasis. In 2 cases the larvae were reared to adult fly in modified meat and sand medium (developed by Udgaonkar. This medium is simple and can be easily prepared in the laboratory. Results: Of the 7 larvae, 5 were Sarcophaga haemorrhoidalis, 1 Megaselia species and 1 was identified as Muscina stabulans. Conclusions: S. haemorrhoidalis was the commonest maggot involved. A high index of suspicion is required for clinical diagnosis when the patient complains of passing wriggling worms in faeces for a long period without any response to antihelminthics. The reason for long duration of illness and recurrence of infestation is baffling. The nearest to cure was colonic wash. We feel prevention is of utmost importance, which is to avoid eating food articles with easy access to flies.

  4. Neurodevelopmental outcomes of infants with esophageal atresia and tracheoesophageal fistula.

    Science.gov (United States)

    Mawlana, Wegdan; Zamiara, Paul; Lane, Hilary; Marcon, Margaret; Lapidus-Krol, Eveline; Chiu, Priscilla Pl; Moore, Aideen M

    2018-01-31

    Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a complex disorder, and most outcome data are confined to mortality and feeding-related morbidities. Our objective was to examine mortality, growth and neurodevelopmental outcomes in a large recent cohort of infants with EA/TEF. Single center study of EA/TEF infants referred from January 2000 to December 2015. Data collected included associated defects, neonatal morbidity and mortality and growth and neurodevelopmental outcomes at age 12-36months. Multiple regression analysis was used to determine variables associated with adverse outcome. Of the 253 infants identified, 102 infants (40%) were preterm. Overall mortality was 8.3%, the majority from major cardiac malformations (p<0.001) Neurodevelopmental assessments (n=182) showed that 76% were within normal, while some delay was seen in 24%, most often in expressive and receptive language. Nine infants had hearing impairment and 5 had visual impairment. Gastrostomy tubes were required in 47 patients and 15% continued to have weight growth velocities less than the 10th centile. A number of specialist interventions were required, Speech/Language being frequent. Mortality in EA/TEF is primarily related to concomitant anomalies, especially cardiac. Multidisciplinary follow up is important for early identification and intervention for growth failure and developmental delay. Retrospective study LEVEL OF EVIDENCE: Level II. Copyright © 2018. Published by Elsevier Inc.

  5. Severe tracheomalacia associated with esophageal atresia: results of surgical treatment.

    Science.gov (United States)

    Filler, R M; Messineo, A; Vinograd, I

    1992-08-01

    This study reviews our experience from 1977 to 1991 with 32 children born with esophageal atresia and tracheoesophageal fistula (EA-TEF) who later underwent surgery for severe tracheomalacia. Indications for surgery included dying spells (21), inability to extubate the airway (nasotracheal tube 5, tracheotomy 3), and recurrent pneumonia (3). Diagnosis was confirmed by chest x-ray, esophagogram, and bronchoscopy. Aortopexy was performed in 31 of 32 children; a splint without aortopexy was used in one older girl. Splinting was also necessary in two of the 31 at the initial operation, when aortopexy failed to prevent tracheal collapse. There were four initial failures. Currently, 29 children are well (median follow-up, 6.6 years). Two have a tracheostomy in place, and one, who had a vascular ring divided after aortopexy, died at home of unknown cause 1 month later. These findings indicate that aortopexy provides long-term relief of severe symptoms of tracheomalacia associated with EA-TEF in almost all affected children. When aortopexy fails, the insertion of an airway splint may succeed; otherwise, tracheostomy is necessary.

  6. Current concept of the treatment of biliary atresia.

    Science.gov (United States)

    Miyano, T; Fujimoto, T; Ohya, T; Shimomura, H

    1993-01-01

    Hepatic portoenterostomy (Kasai operation) for the patient with biliary atresia (BA) can restore the bile flow in approximately 80% of children operated on before 60 days of life [1]. However, in terms of long-term survival, according to a recent nationwide survey among the major pediatric centers in Japan, only 325 of 2013 patients had more than 10 years' survival, and only 157 patients (7.8%) remained jaundice-free with normal liver function [2]. About 20% of BA cases without jaundice are generally able to survive for long periods; and most of those patients have portal hypertension or abnormal liver function [3-5]. As the results of liver transplantation have improved, controversy has arisen over the optimal care of these children [4, 6, 7]. Some investigators have claimed that transplantation is the favored primary therapy for most patients with BA [8]. We are thus at a turning point concerning the primary therapy of BA, which makes it necessary to determine the exact indications for the Kasai portoenterostomy and the timing of liver transplantation. This paper describes our strategy for the optimal treatment of BA patients based on our 117 patients who have had various form of portoenterostomy.

  7. Evaluation of developmental prognosis for esophageal atresia with tracheoesophageal fistula.

    Science.gov (United States)

    Nomura, Akiyoshi; Yamoto, Masaya; Fukumoto, Koji; Takahashi, Toshiaki; Ohyama, Kei; Sekioka, Akinori; Yamada, Yutaka; Urushihara, Naoto

    2017-10-01

    This study investigated risk factors for developmental disorders after the repair of esophageal atresia with tracheoesophageal fistula (EA/TEF). The clinical charts of all infants with EA/TEF (gross type C) treated at our institution between 1993 and 2013 were analyzed. Patients with chromosomal aberrations were excluded. Forty-seven patients were divided into groups according to the presence (D) or absence (N) of developmental disorders. Patients were assessed with appropriate developmental examinations at age >3 years. Group D comprised 13 patients. The 34 patients in the group N had received a standard education. In groups D and N, gestational age was 36.5 versus 38.5 weeks, birth weight was 1808 versus 2662 g, and congenital cardiac anomalies occurred in 76.9 versus 23.5%. These differences reached significance. Operative data did not differ significantly. Overall complications occurred in 69.2 versus 29.4%, gastroesophageal reflux (GER) requiring fundoplication in 46.1 versus 8.8%, and oral ingestion difficulty in 61.5 versus 14.7%, which were significantly different. The frequencies of anastomotic leakage, anastomotic stricture, and recurrent fistula did not differ significantly. Gestation, birth weight, and cardiac anomalies could be risk factors for developmental disorders. Moreover, overall complications, GER, and oral ingestion may affect development.

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    Biagio Zuccarello

    2009-01-01

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

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

    Science.gov (United States)

    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

  11. A rare malformation: Double duodenal atresia associated with malrotation in a patient with “Cri du Chat” syndrome

    Directory of Open Access Journals (Sweden)

    Corina Zamfir

    2016-09-01

    Full Text Available Duodenal atresia is a common cause of neonatal obstruction. It is frequently associated with other malformations such as Down syndrome, cardiac anomalies, malrotation or annular pancreas. Double duodenal atresia is an exceptional malformation. There are only few publications on this subject and none are in association with “Cri du Chat” (Cat Cry syndrome. We present a newborn, prenatally diagnosed with duodenal atresia and with “Cri du Chat” syndrome. The double duodenal atresia was actually of two different types (type I and type II, associated with malrotation. The second atresia was a peroperative finding at reintervention, five days later. We wish to share our experience in order to avoid unnecessary surgery and co-morbidities.

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

    Science.gov (United States)

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

    2012-01-01

    Methoxychlor (MXC) is an organochlorine pesticide widely used in many countries against various species of insects that attack crops and domestic animals. MXC reduces fertility by increasing atresia (death) of antral follicles in vivo. MXC also induces atresia of antral follicles after 96 h in vitro. The current work tested the hypothesis that MXC induces morphological atresia at early time points (24 and 48 h) by altering pro-apoptotic (Bax, Bok, Casp3, and caspase activity) and anti-apoptotic (Bcl2 and Bcl-xL) factors in the follicles. The results indicate that at 24 h, MXC increased Bcl-xL and Bax mRNA levels and increased the ratio of Bax/Bcl2. At 48–96 h, MXC induced morphological atresia. At 24–96 h, MXC increased caspase activities. These data suggest that MXC may induce atresia by altering Bcl2 factors and inducing caspase activities in antral follicles. PMID:23000595

  13. The extent of intestinal failure-associated liver disease in patients referred for intestinal rehabilitation is associated with increased mortality: an analysis of the pediatric intestinal failure consortium database.

    Science.gov (United States)

    Javid, Patrick J; Oron, Assaf P; Duggan, Christopher; Squires, Robert H; Horslen, Simon P

    2017-09-05

    The advent of regional multidisciplinary intestinal rehabilitation programs has been associated with improved survival in pediatric intestinal failure. Yet, the optimal timing of referral for intestinal rehabilitation remains unknown. We hypothesized that the degree of intestinal failure-associated liver disease (IFALD) at initiation of intestinal rehabilitation would be associated with overall outcome. The multicenter, retrospective Pediatric Intestinal Failure Consortium (PIFCon) database was used to identify all subjects with baseline bilirubin data. Conjugated bilirubin (CBili) was used as a marker for IFALD, and we stratified baseline bilirubin values as CBili4 mg/dL. The association between baseline CBili and mortality was examined using Cox proportional hazards regression. Of 272 subjects in the database, 191 (70%) children had baseline bilirubin data collected. 38% and 28% of patients had CBili >4 mg/dL and CBili 4 mg/dL, prematurity, race, and small bowel atresia. On regression analysis controlling for age, prematurity, and diagnosis, the risk of mortality was increased by 3-fold for baseline CBili 2-4 mg/dL (HR 3.25 [1.07-9.92], p=0.04) and 4-fold for baseline CBili >4 mg/dL (HR 4.24 [1.51-11.92], p=0.006). On secondary analysis, CBili >4 mg/dL at baseline was associated with a lower chance of attaining enteral autonomy. In children with intestinal failure treated at intestinal rehabilitation programs, more advanced IFALD at referral is associated with increased mortality and decreased prospect of attaining enteral autonomy. Early referral of children with intestinal failure to intestinal rehabilitation programs should be strongly encouraged. Treatment Study, Level III. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Reoperation of Anastomotic Stricture after Oesophageal Atresia Repair: An Uncommon Event

    Directory of Open Access Journals (Sweden)

    A L Azakpa

    2017-01-01

    Full Text Available Oesophageal atresia is a common malformation in which the survival rate in developed countries is around 90%, while its mortality remains very high in developing countries. Oesophageal stricture post-oesophageal atresia repair is traditionally treated by non-surgical approach. However, surgical resection of the oesophageal stricture may be necessary after the failure of dilations. We report one case of refractory oesophageal stricture post-EA repair in a 3-year-old girl, who underwent oesophageal atresia Type III repair at 11-day-old. We performed an end-to-end oesophageal anastomosis with tracheal oesophageal fistula closure by extra-pleural approach. The patient was lost to follow-up for 3 years. She was seen later for anastomotic oesophageal stricture with the failure of oesophageal dilatations. Surgical resection of oesophageal stricture was performed with end-to-end oesophageal anastomosis.

  15. Cholangitis and Choledocholithiasis After Repair of Duodenal Atresia: A Case Report

    Directory of Open Access Journals (Sweden)

    Atia Zaka-ur-Rab

    2011-04-01

    Full Text Available Cholelithiasis is a rare but known complication of surgery for duodenal atresia. Occurrence of choledocholithiasis as sequelae of duodenoduodenostomy is still rarer. Biliary stasis resulting from compression of common bile duct due to periductal fibrosis may predispose to gallstone formation. We are reporting a case of choledocholithiasis in a 6 year old child as a late post-operative complication of duodenoduodenostomy (for duodenal atresia in the neonatal period. To the best of our knowledge this is the first case of its kind reported in English literature. Cholecystectomy followed by choledocholithotomy was done and the patient had an uneventful recovery. Upper abdominal pain in any patient with a history of surgery for duodenal atresia in the past warrants a thorough evaluation for any biliary tract anomaly, cholecystitis, cholangitis, cholelithiasis or choledocholithiasis.

  16. Congenital bilateral anterior nasal atresia in 16 half-sibling Holstein-Friesian calves.

    Science.gov (United States)

    McGowan, M; Smith, C; Ferguson, A; Stone, B; Vankan, D; Allavena, R

    2017-04-01

    Cases of bilateral anterior nasal atresia, sometimes referred to as arhinia or partial arhinia, are extremely rare in cattle and have only been reported as single events. This report describes the birth of 16 Holstein Friesian calves over a 3-month period, all affected with bilateral atresia of the nares and anterior nasal cavity, with 2 calves having additional severe deviation of the nasomaxillary bones and nasal septum. One affected calf was born with an anatomically normal twin. Parentage testing demonstrated that a single Holstein Friesian bull sired all cases tested. This is the first report of multiple cases of bilateral anterior nasal atresia in cattle with evidence that demonstrates a heritable condition. © 2017 Australian Veterinary Association.

  17. Simultaneous vibrant soundbridge implantation and 2nd stage auricular reconstruction for microtia with aural atresia

    Directory of Open Access Journals (Sweden)

    Lynne Hsueh Yee Lim

    2011-09-01

    Full Text Available 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.

  18. [Self-rated efficacy in bilateral aural atresia patients using bone-anchored hearing aid].

    Science.gov (United States)

    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 hearing ability and quality of life of patients with bilateral aural atresia.

  19. Intestinal Failure (Short Bowel Syndrome)

    Science.gov (United States)

    Intestinal Failure (Short Bowel Syndrome) What is intestinal failure? Intestinal failure occurs when a significant portion of the small ... intestine does. Who is at risk for intestinal failure? N Babies (usually premature) who have had surgery ...

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

    Energy Technology Data Exchange (ETDEWEB)

    Shen, Wen-jun; Dong, Rui; Chen, Gong, E-mail: chengongzlp@hotmail.com; 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.

  1. Ultrasound for the Diagnosis of Biliary Atresia: A Meta-Analysis.

    Science.gov (United States)

    Zhou, Luyao; Shan, Quanyuan; Tian, Wenshuo; Wang, Zhu; Liang, Jinyu; Xie, Xiaoyan

    2016-05-01

    The purpose of this meta-analysis was to summarize the evidence on the accuracy of various ultrasound findings for excluding a diagnosis of biliary atresia. We searched MEDLINE and the Web of Science databases for the period from January 1990 to May 2015. To be included, studies had to satisfy two criteria. First, the data needed to include 2 × 2 contingency data on the diagnostic accuracy of ultrasound in identifying biliary atresia in at least 10 patients with and 10 patients without disease. Second, the study needed to use surgery or biopsy for biliary atresia and surgery, biopsy, clinical follow-up, or some combination of the three as the reference standard for the exclusion of biliary atresia. The methodologic quality of each study was assessed with version 2 of the Quality Assessment of Diagnostic Accuracy Studies tool. Estimated sensitivity and specificity of each ultrasound characteristic were calculated using a random-effects model. Twenty-three studies published during 1998-2015 were included. Summary sensitivity and specificity were 0.85 (95% CI, 0.76-0.91) and 0.92 (95% CI, 0.81-0.97), respectively, for gallbladder abnormalities in 19 studies; 0.74 (95% CI, 0.61-0.84) and 0.97 (95% CI, 0.95-0.99), respectively, for triangular cord sign in 20 studies; and 0.95 (95% CI, 0.70-0.99) and 0.89 (95% CI, 0.79-0.94), respectively, for the combination of the triangular cord sign and gallbladder abnormalities in five studies. Subgroup analysis of an absent gallbladder in 10 studies yielded a summary specificity of 0.99 (95% CI, 0.93-1.00). The triangular cord sign and gallbladder abnormalities are the two most accurate and widely accepted ultrasound characteristics for diagnosing or excluding biliary atresia. Other ultrasound characteristics are less valuable for diagnosis or exclusion of biliary atresia.

  2. Anomalous pancreatic ductal system allowing distal bowel gas with duodenal atresia

    Directory of Open Access Journals (Sweden)

    Shruti Sevak

    2017-11-01

    Bypass of the atretic duodenal segment through an anomalous pancreatic ductal system is a rare anomaly described in the literature in only a handful of cases. This case report highlights the importance of considering duodenal atresia and pancreaticobiliary enteric bypass in the differential diagnosis of neonates presenting with partial duodenal obstruction. On ultrasound, the presence of gas in the biliary tree or pancreatic duct should alert the physician to the possibility of duodenal atresia with congenital pancreaticobiliary duct anomalies that allow for bypass of enteric contents, including air, into more distal bowel, thereby creating a gas pattern aptly described as double bubble with distal gas.

  3. Prenatal Diagnosis and Pathology of Laryngeal Atresia in Congenital High Airway Obstruction Syndrome

    Directory of Open Access Journals (Sweden)

    Piya Chaemsaithong

    2012-01-01

    Full Text Available Congenital high airway obstruction syndrome is a rare but life-threatening condition. Therefore, prenatal diagnosis is important. The obstruction can be due to laryngeal/tracheal atresia or external compression. While a differential diagnosis with congenital cystic adenomatoid malformation (CCAM type III may be difficult, it is still possible with ultrasonography. In this study, we report a case of bilateral echogenic lungs with hydrops fetalis. After the prenatal diagnosis of laryngeal atresia, the couple opted to have an elective termination of pregnancy performed at 20 weeks of gestation. The diagnosis was confirmed by a complete pathological examination.

  4. Scintigraphic hepatobiliary function studies in newborn infants to diagnose biliary hypoplasia or atresia

    International Nuclear Information System (INIS)

    Askari-Sabi, Z.

    1987-01-01

    The results obtained from scintigraphic hepatobiliary function studies, intraoperative cholangiography and histological examinations in a total of 17 infants suspected of having biliary atresia were compared and analysed with reference to the clinical signs and symptoms observed. In most cases, the individual diagnostic procedures led to consistent findings, even though there were some variations in the clinical picture. Patient outcome is largely determined by the site of atresia, due to which fact surgical correction should be carried out as soon as possible, in any case before the 8th week post partum. (TRV) [de

  5. High Prevalence of Barrett's Esophagus and Esophageal Squamous Cell Carcinoma After Repair of Esophageal Atresia.

    Science.gov (United States)

    Vergouwe, Floor W T; IJsselstijn, Hanneke; Biermann, Katharina; Erler, Nicole S; Wijnen, René M H; Bruno, Marco J; Spaander, Manon C W

    2018-04-01

    Esophageal atresia is rare, but improved surgical and intensive care techniques have increased rates of survival in children, so there are now many adults with this disorder. Many patients with esophageal atresia develop gastroesophageal reflux (GER), raising concerns about increased risk of Barrett's esophagus (BE; prevalence of 1.3%-1.6% in general population) and esophageal carcinoma. We assessed the prevalence of BE and esophageal carcinoma in this population. We performed a prospective study of 289 patients with esophageal atresia at the Department of Gastroenterology and Hepatology at Erasmus MC University Medical Center in The Netherlands, from May 2012 through March 2017. A total of 151 (median age, 25.4 y; age range, 16.8-68.6 y) underwent upper endoscopies as part of a surveillance program for (pre)malignant esophageal lesions. Biopsies were collected and analyzed by histology. We collected data on patients' use of medications, tobacco, and alcohol; gastrointestinal symptoms; ability to swallow; complaints of GER; and type of atresia and surgeries. Prevalence of esophageal squamous cell carcinoma (ESCC) was determined using data from The Netherlands Cancer Registry. The number of persons alive on January 1, 2016, in the esophageal atresia cohort and in the general Dutch population were used to calculate the 10-year prevalence of ESCC per 100,000 persons in both populations. Forty-seven percent of patients with esophageal atresia had a history of GER and 20.5% had undergone fundoplication surgery. Endoscopy revealed normal esophagus in 68.2% of patients, esophagitis in 7.3%, and columnar-lined esophagus in 24.5%. Histology revealed normal mucosa in 50.3% of patients, esophagitis in 23.2%, gastric metaplasia in 17.2%, and BE in 6.6% (at a median age of 31.6 years). A history of fundoplication surgery was associated with BE (P = .03). Three ESCCs developed, in 2 men, at ages 42, 44, and 60 years. This corresponded to a prevalence of 0.7% in patients with

  6. Missed diagnosis of atresia of the right pulmonary artery in woman with left-sided pneumothorax

    DEFF Research Database (Denmark)

    Dagnegård, Hanna; Ryom, Philip

    2016-01-01

    Isolated pulmonary atresia is an uncommon condition, which can go undiagnosed for a long time in asymptomatic patients. Sometimes, diagnosis can be made at pregnancy due to respiratory symptoms. There is no known increased risk of pneumothorax. We here present a case where a second-time pregnant ...... woman with an unknown atresia of the right pulmonary artery received a left-sided pneumothorax. The diagnosis was initially missed in spite of adequate imaging and the condition progressed to respiratory stop. We describe the course of diagnostics and the chosen strategy of treatment....

  7. Aspiration Risk and Respiratory Complications in Patients with Esophageal Atresia.

    Science.gov (United States)

    Kovesi, Thomas

    2017-01-01

    Chronic, long-term respiratory morbidity (CRM) is common in patients with a history of repaired congenital esophageal atresia, typically associated with tracheoesophageal fistula (EA/TEF). EA/TEF patients are at high risk of having aspiration, and retrospective studies have associated CRM with both recurrent aspiration and atopy. However, studies evaluating the association between CRM in this population and either aspiration or atopy have reported conflicting results. Furthermore, CRM in this population may be due to other related conditions as well, such as tracheomalacia and/or recurrent infections. Aspiration is difficult to confirm, short of lung biopsy. Moreover, even within the largest evidence base assessing the association between CRM and aspiration, which has evaluated the potential relationship between gastroesophageal reflux and asthma, findings are contradictory. Studies attempting to relate CRM to prior aspiration events may inadequately estimate the frequency and severity of previous aspiration episodes. There is convincing evidence documenting that chronic, massive aspiration in patients with repaired EA/TEF is associated with the development of bronchiectasis. While chronic aspiration is likely associated with other CRM in patients with repaired EA/TEF, this does not appear to have been confirmed by the data currently available. Prospective studies that systematically evaluate aspiration risk and allergic disease in patients with repaired EA/TEF and document subsequent CRM will be needed to clarify the causes of CRM in this population. Given the prevalence of CRM, patients with repaired EA/TEF should ideally receive regular follow-up by multidisciplinary teams with expertise in this condition, throughout both childhood and adulthood.

  8. Endotoxin and CD14 in the progression of biliary atresia

    Directory of Open Access Journals (Sweden)

    Chen Ching-Mei

    2010-12-01

    Full Text Available Abstract Background Biliary atresia (BA is a typical cholestatic neonatal disease, characterized by obliteration of intra- and/or extra-hepatic bile ducts. However, the mechanisms contributing to the pathogenesis of BA remain uncertain. Because of decreased bile flow, infectious complications and damaging endotoxemia occur frequently in patients with BA. The aim of this study was to investigate endotoxin levels in patients with BA and the relation of these levels with the expression of the endotoxin receptor, CD14. Methods The plasma levels of endotoxin and soluble CD14 were measured with a pyrochrome Limulus amebocyte lysate assay and enzyme-linked immunosorbent assay in patients with early-stage BA when they received the Kasai procedure (KP, in patients who were jaundice-free post-KP and followed-up at the outpatient department, in patients with late-stage BA when they received liver transplantation, and in patients with choledochal cysts. The correlation of CD14 expression with endotoxin levels in rats following common bile duct ligation was investigated. Results The results demonstrated a significantly higher hepatic CD14 mRNA and soluble CD14 plasma levels in patients with early-stage BA relative to those with late-stage BA. However, plasma endotoxin levels were significantly higher in both the early and late stages of BA relative to controls. In rat model, the results demonstrated that both endotoxin and CD14 levels were significantly increased in liver tissues of rats following bile duct ligation. Conclusions The significant increase in plasma endotoxin and soluble CD14 levels during BA implies a possible involvement of endotoxin stimulated CD14 production by hepatocytes in the early stage of BA for removal of endotoxin; whereas, endotoxin signaling likely induced liver injury and impaired soluble CD14 synthesis in the late stages of BA.

  9. Near infrared spectroscopy: experience on esophageal atresia infants.

    Science.gov (United States)

    Conforti, Andrea; Giliberti, Paola; Mondi, Vito; Valfré, Laura; Sgro, Stefania; Picardo, Sergio; Bagolan, Pietro; Dotta, Andrea

    2014-07-01

    Near infrared spectroscopy (NIRS) gradually became the gold standard to guide anesthetic conduction during cardiac surgery, and nowadays, it is commonly utilized to monitor cerebral oxygenation during invasive procedures. Preterm babies also benefit from this non-invasive monitoring to prevent neurological sequelae. However, few data are available on NIRS perioperative changes in newborn operated on for major non-cardiac malformations. Aim of the present study is to evaluate the usefulness of NIRS assessment during and after esophageal atresia (EA) correction and its correlation with clinical behavior. All patients treated for EA from May 2011 were prospectively enrolled in the study. All infants underwent "open" correction of EA and cerebral and splanchnic NIRS was applied up to 48h after surgery. Body temperature, blood pressure, pH, paSO2, paCO2, and urine output, were recorded during NIRS registration. Mann-Whitney test and 1-way ANOVA (Kruskal-Wallis and Dunn's multiple comparison tests) were used as appropriate. Seventeen patients were enrolled into the study and 13 were available for the analysis. Four patients were excluded because of poor NIRS registration. Cerebral and renal NIRS values significantly decreased at 24h post-operatively (pNIRS remained stable during the study period. Urine output significantly decreased. Our data confirmed that perioperative monitoring of tissue oxygenation during neonatal esophageal surgery is feasible. Cerebral and renal NIRS evaluation, as for cardiac patients, may guide anesthetic conduction and postoperative care. Out data suggest a newly observed hemodynamic reorganization during esophageal surgery involving renal and, probably, splanchnic blood flow redistribution, demonstrated by the observed subsequent significant post-operative transitory decrease in urinary output. Reducing the decrement in cerebral and renal NIRS values may improve, and ideally eliminate, the well-known late sequelae linked to hemodynamic changes

  10. Gastric serosal tear due to congenital pyloric atresia: A rare anomaly ...

    African Journals Online (AJOL)

    Congenital pyloric atresia (CPA) is a very rare malformation with unknown aetiology. It has has numerous complications including gastric perforation, aspiration pneumonia. Gastric perforations in newborns occur by three mechanisms: trauma, ischaemia, or spontaneous. Here, we report a newborn with CPA presenting with ...

  11. Maternal residential atrazine exposure and risk for choanal atresia and stenosis in offspring.

    Science.gov (United States)

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

    2013-03-01

    To assess the relationship between estimated residential maternal exposure to atrazine during pregnancy and the risk for choanal atresia or stenosis in offspring. Data for 280 nonsyndromic cases and randomly selected, population-based controls delivered between 1999 and 2008 were obtained from the Texas Birth Defects Registry. County-level estimates of atrazine levels obtained from the US Geological Survey were assigned to cases and controls based on maternal county of residence at delivery. Unconditional logistic regression was used to assess the relationship between maternal residential atrazine exposure and the risk for choanal atresia or stenosis in offspring. Compared with offspring of mothers with low levels of estimated residential atrazine exposure, those with high levels had nearly a 2-fold increase in risk for choanal atresia or stenosis (aOR, 1.79; 95% CI, 1.17-2.74). A significant linear trend was also observed with increasing levels of atrazine exposure (adjusted P = .002). A link between maternal exposure to endocrine disruptors, such as atrazine, and the risk of choanal atresia is plausible based on previous findings. Our results lend further support to this hypothesis. Copyright © 2013 Mosby, Inc. All rights reserved.

  12. A newborn with duodenal atresia and a gastric perforation | Akçora ...

    African Journals Online (AJOL)

    ... 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. Key words: Duodenal atresia, gastric perforation, newborn ...

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

    Directory of Open Access Journals (Sweden)

    Tesfaye Worku

    2017-02-01

    Full Text Available 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.

  14. Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

    NARCIS (Netherlands)

    Veltman, J.A.; Jonkers, Y.M.H.; Nuijten, I.; Janssen, I.M.; Vliet, W. van der; Huys, E.; Vermeesch, J.; Buggenhout, G.J.C.M. van; Fryns, J.P.; Admiraal, R.J.C.; Terhal, P.; Lacombe, D.; Geurts van Kessel, A.H.M.; Smeets, D.F.C.M.; Schoenmakers, E.F.P.M.; Ravenswaaij-Arts, C.M.A. van

    2003-01-01

    Deletions of the long arm of chromosome 18 occur in approximately 1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in approximately 66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA,

  15. Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

    NARCIS (Netherlands)

    Veltman, JA; Jonkers, Y; Nuijten, [No Value; Janssen, [No Value; van der Vliet, W; Huys, E; Vermeesch, J; Van Buggenhout, G; Fryns, JP; Admiraal, R; Terhal, P; Lacombe, D; van Kessel, AG; Smeets, D; Schoenmakers, EFPM; van Ravenswaaij-Arts, CM

    Deletions of the long arm of chromosome 18 occur in similar to1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in similar to66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA, of whom

  16. Different varieties of colonic atresia in a series of 13 patients: a ...

    African Journals Online (AJOL)

    Pediatric Surgery. Annals of Pediatric Surgery 2013, 9:20–24. Keywords: anorectal anomalies, atresia, colon. Pediatric Surgery Unit, Department of General Surgery, Faculty of Medicine,. Zagazig ... distention, bilious vomiting, and failure to pass meco- nium [3]. .... cut-off of the colon contrast column and for one patient.

  17. Cervicovaginal atresia with hematometra: restoring menstrual and sexual function by utero-coloneovaginoplasty.

    Science.gov (United States)

    Kisku, Sundeep; Varghese, Lilly; Kekre, Aruna; Sen, Sudipta; Karl, Sampath; Mathai, John; Thomas, Reju Joseph; Barla, Ravi Kishore

    2014-10-01

    Cervicovaginal atresia is a rare Mullerian anomaly. The management of cervicovaginal atresia has evolved from historical recommendations of hysterectomy to various reconstructive procedures more recently. The latter carries a risk of significant morbidity and unknown fertility. We present our experience in the management of this complex anomaly. Twenty patients with cervicovaginal atresia were operated in our hospital from January 2004 through December 2013. The details of their anatomical variations and functional outcomes were analyzed. Eighteen out of twenty patients had cervical agenesis. Two patients had cervical hypoplasia. All patients underwent utero-coloneovaginoplasty. Post operatively, all patients have regular menstrual cycles. One patient is married, sexually active and has satisfactory coital function. One patient had a bowel anastomotic leak that required a diversion ileostomy. Two patients developed mild stenosis. One patient has mild neovaginal mucosal prolapse. No patient has developed pyometra. Patients with cervicovaginal atresia need to be counselled about the various reconstructive options available and the potential risks. Social and economic factor play a significant role in determining the plan of management. For patients from conservative societies, utero-coloneovaginoplasty provides a safe conduit for the passage of menstrual flow and coitus, at the cost of permanent infertility.

  18. Tricuspid Atresia with Normal Axis on ECG Palliated With A Central ...

    African Journals Online (AJOL)

    Background: Tricuspid Atresia is the 3rd commonest cyanotic congenital Heart disease .It is characterized by lack of communication between the right atrium and right ventricle. The treatment often requires a palliative systemic to pulmonary shunt before definite surgery. The use of a central shunt via a median sternotomy is ...

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

    NARCIS (Netherlands)

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

    2012-01-01

    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

  20. A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation

    NARCIS (Netherlands)

    van den Boogaard, M. J.; de Pater, J.; Hennekam, R. C.

    1991-01-01

    A newborn with a partial trisomy 9 and a partial trisomy 16q is described. The child died shortly after birth because of laryngeal atresia. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation t(9;16) (q22;q24). The pertinent literature on both partial trisomy 9 and

  1. Rare congenital absence of tail (anury) and anus (atresia ani) in ...

    African Journals Online (AJOL)

    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 ...

  2. Prenatal and postnatal management of congenital bronchial atresia (CBA): single tertiary center report.

    Science.gov (United States)

    Yu, Gang; Xia, Bo; Wang, Zhu; Huang, Baisha; Zhang, Ying; Hong, Chun; Shang, Ning; Tang, Jing

    2017-08-01

    To summarize our diagnosis and management experience of congenital bronchial atresia (CBA). A retrospective review was conducted, clinical data were collected of all patients with CBA. Among the nine patients (5 males and 4 females), six cases with right side and three cases with left cases, including one patient with mainstem bronchial atresia (MBA), two cases with lobar bronchial atresia (LBA), six cases with segmental bronchial atresia (SBA). Eight were diagnosed as congenital cystic adenomatoid malformation (CCAM) type III by ultrasound (US) in prenatal. The MBA patient was diagnosed by computed tomography (CT) and bronchofibroscopy, only two patients by pathological findings and the other six patients by CT. Five cases were accompanied by CCAM, one case with bronchopulmonary sequestration (BPS), two cases with emphysema. Eight cases except MBA were underwent thoracoscopic surgery treatment and had favorable prognosis. Two cases with LBA merged with complication of pectus excavatum after surgery. One case with MBA had no surgery and died in the 13 days old. CBA is an easily misdiagnosed disease from pathologic conditions, definitive diagnosis of this condition depends on combination CT or clinical pathologic diagnosis. Thoracoscopic resection is a safe and feasible treatment of CBA in experienced hands.

  3. Accuracy of antenatal ultrasound signs in predicting the risk for bowel atresia in patients with gastroschisis.

    Science.gov (United States)

    Raia-Barjat, Tiphaine; Stadler, Amandine; Varlet, Marie-Noelle; Fanget, Cécile; Noblot, Edouard; Prieur, Fabienne; Chauleur, Céline; Varlet, François

    2016-08-01

    Evaluate accuracy of prenatal ultrasound findings in predicting the risk of bowel atresia in patients with gastroschisis. A retrospective study was conducted on 18 fetuses with a prenatal diagnostic of gastroschisis treated at University hospital of Saint Etienne France between 2002 and 2012. Ultrasound abnormalities were used to classify them into three groups: no ultrasound abnormality (n=4), oligohydramnios (n=9), intra-abdominal bowel dilatation ≥20.5mm (n=5). Postnatal outcomes were compared between groups. The threshold value of 20.5mm for the prediction of atresia was determined through the receiver operator characteristics curve. In the group with oligohydramnios, intra uterine growth restriction were significantly more frequent (p=0.015) and three newborns had serositis including two with secondary complications after the initial surgery. In the group with major intra-abdominal bowel dilatation, all had a narrow defect atresia and no other newborn has this complication (p=0.0016). The threshold value of 20.5mm has a sensitivity of 100% and a specificity of 92.9%. The area under the curve was equal to 96.4%. Intra-abdominal bowel dilatation ≥20.5mm seems to be associated with the risk of postnatal atresia. MRI could help to clarify a complicated or uncertain ultrasound aspect. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  4. Clinical characteristics of congenital cervical atresia and associated endometriosis among 96 patients.

    Science.gov (United States)

    Song, Xiaochen; Zhu, Lan; Ding, Jing; Xu, Tao; Lang, Jinghe

    2016-09-01

    To describe the anatomic variety of congenital cervical atresia and to explore the relationship between this disorder and pelvic endometriosis. In a retrospective study, records were reviewed for 96 patients with a confirmed diagnosis of congenital cervical atresia treated at a center in Beijing, China, between January 1984 and October 2014. Data on demographic parameters, symptoms, anatomic features, and endometriosis were obtained and analyzed. Of the 96 patients, 54 (56%) had pelvic endometriosis, 23 (24%) had a uterine malformation, 75 (78%) had a vaginal malformation, and 12 (13%) had a urinary malformation. The patients with a delay from first symptoms to surgery of more than 1year had a higher incidence of endometriosis than did those with a delay of 1year or less (45/71 [63%] vs 7/23 [30%]; P=0.006), and this trend was not related to the severity of endometriosis (P=0.658). Among the 31 patients with unilateral endometrial cysts, 20 (65%) had left-sided cysts and 11 (35%) had right-sided cysts (P=0.005). More than half of patients with congenital cervical atresia had pelvic endometriosis. Early diagnosis and surgery seem to be necessary to prevent endometriosis among patients with congenital cervical atresia. Copyright © 2016 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

  5. [Intraoperative management of esophageal atresia: small steps that cannot be ignored in Madagascar].

    Science.gov (United States)

    Randriamizao, Harifetra Mamy Richard; Rakotondrainibe, Aurélia; Rahanitriniaina, Nadia Marie Philibertine; Rajaonera, Andriambelo Tovohery; Andriamanarivo, Mamy Lalatiana

    2017-01-01

    The management of esophageal atresia is still limited due to the precariousness of technical equipments in Madagascar. Our case study aims to highlight possible therapeutic options and to describe the progresses to be made so as to optimize treatment of this congenital pathology. We collected the medical records of all patients hospitalized for esophageal atresia in the Department of Surgical Reanimation at the University Hospital-JRA Antananarivo. The first patients admitted who survived for a period of 42 months (between January 2011 and June 2014) were included in the study. Among the 17 patients admitted with esophageal atresia, three full-term newborns with type III esophageal atresia, successively admitted in Surgical Reanimation, were the first patients in Madagascar to survive after surgery. Only one patient had associated malformations. These three babies were extubated early in the operating room; they underwent oxygen therapy until normal spontaneous breathing. New-born babies underwent post-operatory physical therapy allowing to improve their respiratory status. Overall mortality rate from this pathology was 76.5% in 42 months. Despite these initial success, progresses still remain to be done in the treatment of this congenital anomaly, from diagnosis up to postoperative period. The improvement of technical equipments, especially ventilation and nutritional support equipments would allow more meaningful results, like in the countries where progresses has been made in the field of reanimation.

  6. Pyloric atresia: A report of ten patients | Ksia | African Journal of ...

    African Journals Online (AJOL)

    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, ...

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

    Science.gov (United States)

    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

  8. Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans

    NARCIS (Netherlands)

    Feenstra, Ilse; Vissers, Lisenka E. L. M.; Pennings, Ronald J. E.; Nillessen, Willy; Pfundt, Rolph; Kunst, Henricus P.; Admiraal, Ronald J.; Veltman, Joris A.; van Ravenswaaij-Arts, Conny M. A.; Brunner, Han G.; Cremers, Cor W. R. J.

    2011-01-01

    Congenital aural atresia (CAA) can occur as an isolated congenital malformation or in the context of a number of monogenic and chromosomal syndromes. CAA is frequently seen in individuals with an 18q deletion, which is characterized by intellectual disability, reduced white-matter myelination, foot

  9. Complete diphallia, imperforate ani (type 2 atresia ani), and an accessory scrotum in a 5-day-old calf.

    Science.gov (United States)

    Loynachan, Alan T; Jackson, Carney B; Harrison, Lenn R

    2006-07-01

    A 5-day-old Angus calf was submitted to the necropsy service at the University of Kentucky Livestock Disease Diagnostic Center. At birth, the calf was noted to have 2 scrota. Five days post-calving the calf developed severe tenesmus and an umbilical infection. Clinical examination revealed atresia ani. At necropsy, complete diphallus, imperforate ani (type 2 atresia ani), and remnants of 2 scrota were identified. This report describes the gross pathologic appearance of a rare case of complete diphallia, imperforate ani (type 2 atresia ani), and an accessory scrotum in a 5-day-old calf.

  10. Prevention of vitamin K deficiency bleeding in breastfed infants: lessons from the Dutch and Danish biliary atresia registries

    DEFF Research Database (Denmark)

    Hasselt, P.M. van; Koning, T.J. de; Vries, E. de

    2008-01-01

    in infants with biliary atresia. PATIENTS AND METHODS: From Dutch and Danish national biliary atresia registries, we retrieved infants who were either breastfed and received 1 mg of oral vitamin K at birth followed by 25 microg of daily oral vitamin K prophylaxis (Netherlands, 1991-2003), 2 mg of oral......: A daily dose of 25 microg of vitamin K fails to prevent bleedings in apparently healthy infants with unrecognized cholestasis because of biliary atresia. One milligram of weekly oral prophylaxis offers significantly higher protection to these infants and is of similar efficacy as 2 mg of intramuscular...

  11. Hepatocellular carcinoma in the native liver of a 38-year-old female patient with biliary atresia

    Directory of Open Access Journals (Sweden)

    Yutaka Kanamori

    2015-11-01

    Full Text Available We report a rare case of hepatocellular carcinoma in native liver in a case of biliary atresia. The patient was a 38-year-old female with three children who had an aggressive tumor, resulting in her subsequent death. We also review 14 reports, published previously in the English language medical literature, concerning hepatocellular carcinoma originating from native liver in biliary atresia cases and discuss the possible etiology, and propose more careful follow up for the patients with biliary atresia who suffer from repetitive cholangitis and/or experience the child delivery.

  12. Hepatic ADC value correlates with cirrhotic severity of patients with biliary atresia

    International Nuclear Information System (INIS)

    Mo, Yuan Heng; Jaw, Fu Shan; Ho, Ming Chih; Wang, Yung Cheng; Peng, Steven Shinn Forng

    2011-01-01

    Introduction: At least 40% of survivors of biliary atresia have progressive cirrhosis even after undergoing Kasai operation. The values of hepatic apparent diffusion coefficient and apparent-diffusion-coefficient-related indices were applied to biliary atresia patients and correlated with cirrhotic severity scores of model for end-stage liver disease or pediatric end-stage liver disease model, Child-Turcotte, and Child-Pugh systems. Materials and methods: Thirty-three biliary atresia patents (mean = 1140, 61–4314 days of age) received magnetic resonance image examinations due to complications of biliary atresia from April 2008 to August 2009. Two non-breath-hold diffusion weighted imaging sequences were performed with motion-probing gradients in three directions with two b values: 0/100 and 0/500 s/mm 2 ; 1000 ms/61.1 ms, time to repeat/time to echo; number of excitation, 1.0; 8 mm section thickness; 40 cm × 40 cm field of view; 128 × 256 matrix in all biliary atresia patients and 18 control subjects. We used the Spearman rank correlation test to analyze the relationship among the scores of model for end-stage liver disease or pediatric end-stage liver disease model, Child-Turcotte and Child-Pugh scores and right hepatic apparent diffusion coefficients, apparent diffusion coefficient using b factor of 500-albumin product and alanine transaminase/apparent diffusion coefficient with b factor of 500 ratio. Results: The right hepatic apparent diffusion coefficient using b factor of 100, apparent diffusion coefficient with b factor of 500 and product of apparent diffusion coefficient with b factor of 500-albumin level were significantly negatively correlated (p ≤ 0.0125) with model for end-stage liver disease or pediatric end-stage liver disease model, Child-Turcotte, and Child-Pugh scores of biliary atresia patients. The ratio of alanine transaminase level/right hepatic apparent diffusion coefficient with b factor of 500 was also significantly (p ≤ 0

  13. Surgery or implantable hearing devices in children with congenital aural atresia: 25 years of our experience.

    Science.gov (United States)

    Jovankovičová, Andrea; Staník, Roman; Kunzo, Samuel; Majáková, Lucia; Profant, Milan

    2015-07-01

    Congenital aural atresia and ear deformities have been the subject of serious discussions for centuries. These malformations are associated with significant aesthetic and functional problems. Outcome of the surgical solution is rarely optimal. Despite the gradual improvement of surgical techniques the surgery still remains associated with very limited short-term and mainly long-term functional outcome. Therefore, the priority treatment in modern otology becomes implantable devices--BAHA, Bonebridge and active middle ear implants. The functional and aesthetic outcomes of aural atresia reconstruction performed at Pediatric ENT Department of Children's University Hospital were retrospectively evaluated and compared with the results prospectively obtained from implantable hearing devices (BAHA, Vibrant Soundbridge, Bonebridge), which have been implanted in patients with aural atresia at Department of ORL HNS, University Hospital Bratislava. Aural atresia reconstruction has been performed in 34 patients during last 25 years. Results of the surgery could be viewed as excellent only in three patients (gain above 30 dB). Air conduction threshold has decreased after the surgery in seven patients, and in two cases total deafness occurred after the surgery. Patients gain on average 12 dB in auditory threshold after surgery. Hearing devices were implanted to the group of 11 children in order to improve their hearing. All of them were the patients with bilateral aural atresia. After implantation a significant improvement in hearing threshold occurred in all children (30-35 dB on average). Together with results of air conduction threshold in patient with aural atresia before and after surgery and implantation we also present a standard deviation. The functional outcome of implantable hearing devices in patients with bilateral aural atresia clearly dominates over the traditional reconstructive surgery. Aesthetic results in pinna deformity management remain a major concern for

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

    Science.gov (United States)

    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 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.

  15. Maturation of auditory brainstem responses in young children with congenital monaural atresia.

    Science.gov (United States)

    Stuermer, Konrad Johannes; Foerst, Astrid; Sandmann, Pascale; Fuerstenberg, Dirk; Lang-Roth, Ruth; Walger, Martin

    2017-04-01

    To date, the impact of conductive hearing loss on the auditory pathway at brainstem level has only been investigated in animal studies, which showed a species-specific delay of maturation. In this study, the functional maturation of auditory brainstem response (ABR) parameters in humans with unilateral atresia of the external auditory canal was investigated. 42 newborns and toddlers ranging in age from 13 days to 11 months were included. The click-evoked ABR interpeak latencies (IPL) of the atretic ears and the contralateral ears with normal hearing were evaluated. The children had no comorbidities and had never been fitted with any kind of hearing aid. The absolute latencies (AL) and IPL of a matched control group were compared to the contralateral normally hearing ears of the children with unilateral atresia. The mean air-bone gap in the ears with atresia was 44 dB HL. Despite this partial acoustic deprivation, no significant difference between the IPLs of normal ears and ears with atresia could be detected. Both for AL and IPL, the differences between the normal ears and the control group were all within 1 standard deviation to the mean. The data showed that the monaural acoustic deprivation by a block of sound conduction does not produce any delay of functional maturation at brainstem level in this group of patients. With regard to the AL and IPL on brainstem level, no differences between the normal ears of children with unilateral atresia and children with bilateral normal hearing could be detected. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. Management of hearing loss and the normal ear in cases of unilateral Microtia with aural atresia.

    Science.gov (United States)

    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 atresia had TT placement in the normal ear (z = 4.26, P 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.

  17. Tracheoesophageal fistula without esophageal atresia: are pull-back tube esophagograms needed for diagnosis?

    Energy Technology Data Exchange (ETDEWEB)

    Laffan, E.E.; Daneman, A.; Kerrigan, D.; Manson, D.E. [Univ. of Toronto (Canada). Dept. of Diagnostic Imaging; Ein, S.H. [Univ. of Toronto (Canada). Div. of General Surgery

    2006-11-15

    A pull-back tube esophagogram (PBTE) is widely accepted in the literature as the radiological investigation of choice for the diagnosis of tracheoesophageal fistula without esophageal atresia. However, PBTE is rarely performed in our institution, as we have been successful in confirming the presence of such fistulae with a contrast material swallow (CS). We hypothesized that PBTE is not the radiological investigation of choice for the diagnosis of the fistula in this condition. We sought to determine what proportion of patients with tracheoesophageal fistula without esophageal atresia can be diagnosed promptly by a CS and what the indications are for a PBTE. We retrospectively analyzed the clinical and radiological findings in patients with tracheoesophageal fistula without esophageal atresia to determine whether the fistula was diagnosed with a CS or PBTE. We identified 20 children (13 female and 7 male) with tracheoesophageal fistula without esophageal atresia. Their age at diagnosis ranged from 3 days to 168 months with a median of 9 days. The diagnosis was documented by CS in 12, PBTE in 7 and CT in 1. In three of the seven who had the fistula documented by PBTE, a previous CS had shown contrast material in the trachea, but no fistulous tract or aspiration was identified. We believe that CS should be the examination of choice in most patients suspected of having a tracheoesophageal fistula without esophageal atresia. A PBTE is indicated in patients who are intubated or are at significant risk of aspiration. Furthermore, a PBTE is also indicated in patients who are intubated or are at significant risk of aspiration. Furthermore, a PBTE is also indicated where contrast material is seen in the airway on CS and there is uncertainty whether this is due to aspiration or a fistula.

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

    International Nuclear Information System (INIS)

    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, and 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. - Highlights: • Equol exposure inhibits antral follicle growth. • Equol exposure increases follicle atresia. • Equol exposure inhibits sex steroid hormone levels. • Equol exposure inhibits mRNA levels of certain steroidogenic enzymes.

  19. Esophageal atresia: long-term interdisciplinary follow-up

    Directory of Open Access Journals (Sweden)

    Lidia B. Giúdici

    2016-07-01

    Full Text Available Background: We provide protocolized interdisciplinary follow-up to babies born with Esophageal Atresia (EA. There are few reports in Argentina about follow-up of EA patients.Objective: To describe outcomes in follow-up of EA patients at 1, 3 and 6 years old and to compare outcomes at age 1 with those at age 6.Methods: Prospective, longitudinal, analytic study of the cohort of babies born with EA, admitted to the follow-up program from 11/01/03 to 10/31/14. Follow-up includes: growth (weight > 10th centile, WHO, neurology-psychomotor development, audiology, vision, genetic, mental health, surgical reintervention, phonostomatology, language, pulmonology, re-hospitalization for clinical causes, lost to follow-up. Outcomes were described at age 1, 3 and 6. We included all EA patients who had reached age 1 at the start of this study.Results: 27 babies were admitted; 30% had long-gap EA; 18% presented VACTERL association; 23 children met inclusion criteria. Genetics  was assessed in 18 newborns (78%; a chromosomal map was performed in 11 babies; 3 had an abnormal karyotype. Mental health: 5/14 of the assessed children showed problems. Phonostomatology: 11 newborns checked (6 required treatment, 4 recovered at age 1. Pulmonologist evaluated 18 babies (7 with recurrent wheezing, 6 with moderate tracheomalacia. Gastroenterology and endoscopy: 80% presented gastroesophageal reflux (GER grade 3-4, and 50% showed a pathologic pHmetry. Lost to follow-up: age 1, 2 (8%; age 3, 3 (17%; age 6, 3 (23%. Normal outcomes observed are the following. Age 1 – growth: 81%; neurologic-psychomotor developmental index (NPDI: 76%; audiology: 95%; vision: 85%; language: 62%; re-hospitalization for clinical causes: 38%; surgical reinterventions: 47%. Age 3 – growth: 78%; NPDI: 50%; audiology: 93%; vision: 93%; language: 43%; re-hospitalization: 35%; surgical reinterventions: 14%. Age 6 – growth: 50%; NPDI: 30%; audiology: 90%; vision: 40%; language: 50%; re

  20. The Role of ARF6 in Biliary Atresia.

    Directory of Open Access Journals (Sweden)

    Mylarappa Ningappa

    Full Text Available Altered extrahepatic bile ducts, gut, and cardiovascular anomalies constitute the variable phenotype of biliary atresia (BA.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.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.The BA-associated SNPs identify a chromosome 14q21.3 susceptibility locus encompassing the ARF6 gene. arf6 knockdown in zebrafish implicates early biliary dysgenesis as a basis for BA, and also

  1. 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.

    Science.gov (United States)

    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

  2. Case Report of a Man With Sertoli Cell Only, Transverse Testicular Ectopia, and External Auditory Canal Atresia

    Directory of Open Access Journals (Sweden)

    Enver Özdemir

    2015-01-01

    Full Text Available Transverse testicular ectopia (TTE is an uncommon congenital anomaly, reported mostly as pediatric case reports. Herewith we report a 43-year old man presenting with sertoli cell only, Transverse testicular ectopia and external auditory canal atresia.

  3. Outcomes of biliary atresia in the Nordic countries - a multicenter study of 158 patients during 2005-2016

    DEFF Research Database (Denmark)

    Pakarinen, Mikko P; Johansen, Lars Søndergaard; Svensson, Jan F

    2017-01-01

    BACKGROUND/PURPOSE: Biliary atresia is the most common reason for newborn cholestasis and pediatric liver transplantation. Even after normalization of serum bilirubin after portoenterostomy, most patients require liver transplantation by adulthood due to expanding fibrosis. We addressed contempor...

  4. Intestinal microbiome landscaping

    NARCIS (Netherlands)

    Shetty, Sudarshan A.; Hugenholtz, Floor; Lahti, Leo; Smidt, Hauke; Vos, de Willem M.

    2017-01-01

    High individuality, large complexity and limited understanding of the mechanisms underlying human intestinal microbiome function remain the major challenges for designing beneficial modulation strategies. Exemplified by the analysis of intestinal bacteria in a thousand Western adults, we discuss

  5. Gene expression signature for biliary atresia and a role for Interleukin-8 in pathogenesis of experimental disease

    Science.gov (United States)

    Bessho, Kazuhiko; Mourya, Reena; Shivakumar, Pranavkumar; Walters, Stephanie; Magee, John C; Rao, Marepalli; Jegga, Anil G; Bezerra, Jorge A

    2014-01-01

    Biliary atresia is a progressive fibroinflammatory obstruction of extrahepatic bile ducts that presents as neonatal cholestasis. Due to the overlap in clinical, biochemical, and histological features with other causes of cholestasis, the diagnosis requires an intraoperative cholangiogram. Thus, we determined whether diseased livers express a gene expression signature unique to biliary atresia. Applying stringent statistical analysis to a genome-wide liver expression platform of 64 infants with biliary atresia at the time of diagnosis, 14 age-appropriate subjects with intrahepatic cholestasis as diseased controls, and 7 normal controls, we identified 15 genes uniquely expressed in biliary atresia with an accuracy of 92.3%. Among these genes, IL8 and LAMC2 were sufficient to classify subjects with biliary atresia distinctly from diseased controls with an area under the curve of 0.934 (95%CI: 0.84-1.03), sensitivity of 96.9%, and specificity of 85.7% using their combined first principal component. Direct measurement of IL8 protein in the serum, however, was not different between the two groups. To investigate whether the liver-restricted increase in IL8 was relevant to disease pathogenesis, we inactivated the signaling of IL8 homologs by genetic targeting of the Cxcr2 receptor in a murine model of experimental biliary atresia. Disruption of Cxcr2 shortened the duration of cholestasis, decreased the incidence of bile duct obstruction, and improved survival above wild-type neonatal mice. Conclusion: The hepatic expression of IL8 and LAMC2 has high sensitivity for biliary atresia at diagnosis and may serve as a biomarker of disease, with an important role for the IL8 signaling in experimental biliary atresia. PMID:24493287

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

    Science.gov (United States)

    Lombardero, Matilde; Yllera, María del Mar

    2014-01-01

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

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

    Science.gov (United States)

    Xie, Zhihong; Zhang, Xiaoping; Liu, Jiandong; Zhang, Ningzhi; Xiao, Hong; Liu, Yongying; Li, Liang; Liu, Xiaoying

    2014-02-21

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

  8. Small Intestine Cancer Treatment

    Science.gov (United States)

    ... all of an organ that contains cancer. The resection may include the small intestine and nearby organs (if the cancer has spread). The doctor may remove the section of the small intestine that contains cancer and perform an anastomosis (joining the cut ends of the intestine together). ...

  9. A new anastomosis technique for intestinal diseases with proximal dilated segments

    Directory of Open Access Journals (Sweden)

    Metin Gündüz

    2016-01-01

    Full Text Available A number of techniques have been described for intestinal anastomosis. We describe a different, simple, and safe technique that can be used in patients with intestinal diseases, such as jejunoileal atresia and perforation that has proximal dilated segments. In this technique, an atraumatic bowel clamp was applied on the proximal dilated bowel at a 90° angle. In the narrow distal segment, we resected the bowel at a 0° angle and continued at a 30° angle from the antimesenteric side. Finally, a two-layer interrupted anastomosis was performed. We applied this technique to a 31-day-old patient who had a divided jejunostomy due to malrotation and perforation with a proximal dilated bowel. Neither anastomotic complications nor feeding and passage problems were seen postoperatively.

  10. Long-term intestinal obstruction sequelae and growth in children with cystic fibrosis operated for meconium ileus: expectancies and surprises.

    Science.gov (United States)

    Mentessidou, Anastasia; Loukou, Ioanna; Kampouroglou, Georgios; Livani, Anastasia; Georgopoulos, Ioannis; Mirilas, Petros

    2017-11-15

    In the few studies on intestinal complications and growth of cystic fibrosis (CF) patients with a history of meconium ileus (MI), operated MI has not been investigated separately. We aimed to investigate the incidence of long-term intestinal obstruction sequelae [constipation, distal intestinal obstruction syndrome (DIOS)] and growth in CF patients operated for MI. Retrospective study (1989-2016) including operative diagnoses and procedures, constipation and DIOS events, yearly Body Mass Index (BMI) measurements. Outcomes were examined in subgroups operated for MI only and for MI with atresia and/or volvulus. Of 49 patients followed-up for 15 (mean) years, 5 (10.2%) developed constipation and 14 (28.6%) DIOS. BMI was within normal percentiles in 53 patients over a 10-year follow-up. MI only and MI with atresia and/or volvulus did not differ in constipation and/or DIOS incidence (11/34 vs. 7/15, p=0.39) or in BMI (p=0.47). Cases with ileocecal valve resection (ICV-R) showed lower constipation and/or DIOS incidence than those without ICV-R (0/6 vs. 11/28, p=0.02) and no different BMI (p>0.05). CF patients operated for MI were in long-term risk for constipation/DIOS; their growth was normal. Interestingly, underlying atresia/volvulus neither increased constipation/DIOS risk nor affected growth. Strikingly, ICV-R showed no constipation/DIOS risk and no impact on growth. Retrospective comparative study. III. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Cystic lung changes in a thin section CT in an asymptomatic young adult with unilateral pulmonary vein atresia: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Seung Choul; Yi, Jeong Geun; Park, Jeong Hee [Konkuk Univ. Medical Center, Seoul (Korea, Republic of)

    2012-07-15

    Unilateral pulmonary vein atresia is a rare anomaly, usually associated with symptoms of recurrent hemoptysis and pneumonia in early childhood. Only one report of an asymptomatic adult patient can be found in the literature. We present the case of an asymptomatic patient with unilateral right pulmonary vein atresia in a 20 year old man. Chest radiograph and multidetector computed tomography showed not only pulmonary vein atresia, pulmonary artery hypoplasia, but also cystic lung changes on thin section CT, along with septal and bronchovascular bundle thickening, and ground-glass opacity. Unilateral pulmonary vein atresia could be another disease which can show cystic lung changes on thin section chest CT.

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

    Science.gov (United States)

    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

  13. Interpretation of plain film radiology in infants and children with cardiac and vascular malformations. Pt. 2. Complex angiocardiopathies exemplified by pulmonary atresia and tricuspid valve atresia cases

    Energy Technology Data Exchange (ETDEWEB)

    Rautenburg, H.W.

    1987-04-01

    This second part shows that its interpreted correctly diagnostic plain film radiology may contribute important information to an often complicated differential diagnosis of complex angiocardiopthies exemplified here by various subforms and types of pulmonary and tricuspid atresias. Diagnostic plainfilm radiology, however, is just one part of total preliminary cardiological diagnostics. In many cases of congenital heart and vessel malformations, it is of great diagnostic value in the practical medical environment and does not compete with echo cardiography especially in easy diagnoses like that of lung perfusion.

  14. Atresia anal com fístula retovaginal em ovino: relato de caso

    Directory of Open Access Journals (Sweden)

    M.L. Antonioli

    Full Text Available RESUMO A atresia anal com fístula retovaginal, é considerada uma afecção congênita rara nos ovinos. Em virtude disso, buscou-se descrever o reparo cirúrgico e cuidados pós-operatórios em uma borrega que apresentava essa afecção. Nesse sentido, uma borrega, sem raça definida, de 25 dias de idade e pesando 7,2kg, apresentou sinais de distensão abdominal e defecação pela vulva. A afecção foi diagnosticada por meio do exame clínico e confirmada radiograficamente, constatando-se atresia anal do tipo III em associação com a fístula.

  15. Atresia Hymenalis with Haematometrocolpos: A Benefit of Teaching a Case Series and Review of the Literature

    LENUS (Irish Health Repository)

    Whitla, L

    2017-09-01

    Imperforate hymen or atresia hymenalis is a rare clinical presentation, the condition is estimated to be present in 0.5\\/1000 females1. It is the most common obstructive anomaly of the female genital tract, and results from failure of canalization of the vaginal plate in utero. Atresia hymenalis can present in neonates as bulging hymen due to accumulation of secretions by the uterovaginal mucosa2,3. Usually the imperforate hymen is asymptomatic until menarche, when haematometrocolpos results in symptoms such as abdominal pain, abdominal mass, urinary retention and constipation. Many cases are diagnosed in the evaluation of primary amenorrhoea or recurrent abdominal pain2,3. We present 4 cases diagnosed over a 7 month period in our ED.

  16. Atresia of the appendix vermiformis: A rare case of developmental abnormality

    Science.gov (United States)

    Yaylak, Faik; Algin, Mustafa Cem; Gungor, Yesim; Korkmaz, Mehmet

    2013-01-01

    Acute appendicitis, which requires immediate surgical intervention, is an important diagnosis in patients with acute abdomen. However, developmental abnormalities may interfere with the preoperative diagnosis and surgical treatment in some cases. Agenesis and atresia of the cecal vermiform appendix is an extremely rare clinical diagnosis. In addition, preoperative diagnosis may be difficult in some cases. Thus, diagnosis of the congenital absence of the vermiform appendix requires a thorough exploration of the retrocecal and ileocecal regions. A 59-year-old male was admitted from the emergency services with right lower abdominal pain. A celiotomy was performed with the suspicion of acute appendicitis. However, an atresia of the vermiform appendix was observed. The patient’s appendix was thus removed. Pathological examination confirmed suppurative appendicitis. This case underlines the importance of the clinical entity for surgeons who may deal with a similar case. PMID:23326173

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

    Science.gov (United States)

    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.

  18. Atresia of the appendix vermiformis: a rare case of developmental abnormality.

    Science.gov (United States)

    Yaylak, Faik; Algin, Mustafa Cem; Gungor, Yesim; Korkmaz, Mehmet

    2013-01-07

    Acute appendicitis, which requires immediate surgical intervention, is an important diagnosis in patients with acute abdomen. However, developmental abnormalities may interfere with the preoperative diagnosis and surgical treatment in some cases. Agenesis and atresia of the cecal vermiform appendix is an extremely rare clinical diagnosis. In addition, preoperative diagnosis may be difficult in some cases. Thus, diagnosis of the congenital absence of the vermiform appendix requires a thorough exploration of the retrocecal and ileocecal regions. A 59-year-old male was admitted from the emergency services with right lower abdominal pain. A celiotomy was performed with the suspicion of acute appendicitis. However, an atresia of the vermiform appendix was observed. The patient's appendix was thus removed. Pathological examination confirmed suppurative appendicitis. This case underlines the importance of the clinical entity for surgeons who may deal with a similar case.

  19. BICORNUATE UTERUS WITH CERVICAL ATRESIA AND VAGINAL AGENESIS ASSOCIATED WITH OVARIAN ENDOMETRIOSIS - A CASE REPORT

    OpenAIRE

    Alpana; Vijaylakshmi

    2013-01-01

    ABSTRACT: Vaginal agenesis combined with a functional uterus is a rare type of Mullerian duct an omaly. Only 7 – 8% of patients with vaginal agenesis have a functional uterus. Women born with vaginal agenesis, cervical atresia combined with a functioning endometrium typically present with hematometra , disabling pelvic pain and progressively worsening en dometriosis. Almost all need an abdominal hysterectomy for relief. We report a case of severe endometriosis in...

  20. Successful pregnancy by IVF in a patient with congenital cervical atresia

    Directory of Open Access Journals (Sweden)

    Achour Radhouane

    2015-09-01

    We report a case of successful pregnancy after in-vitro fertilization in a 32-year-old patient with congenital cervical atresia diagnosed at the age of 28 years. She was referred to our unit and had a successful pregnancy after in-vitro fertilization. Caesarean section was performed at 38 weeks gestation. A healthy male baby weighing 3650 g was safely delivered.

  1. Radiological evaluation of pulmonary atresia: An analysis of cineangiography in 32 cases

    International Nuclear Information System (INIS)

    Lee, Dong Ho; Yeon, Kyung Mo; Park, Jae Hyung; Han, Man Chung; Yoon, Yong Soo

    1983-01-01

    Total 32 cases of pulmonary atresia were diagnosed radiographically at Seoul National University Hospital from March, 1979 to August 1982. Some characteristic radiological findings were analyzed in chest PA and cineangiographies. The results were as follows: 1. In the evaluation of chest PA, cardiomegaly was noticed in 16 cases, dextrocardia in 8 cases, elevated cardiac apex in 7 cases and right-sided aortic arch in 6 cases. The pulmonary vascularties were mildly decreased in 20 cases, markedly decreased in 9 cases and decreased with reticular pattern in 3 cases. 2. As final diagnoses after cineangiography, pulmonary atresia was associated with Tetralogy of Fallot variant in 17 cases, transposition of great vessels in 7 cases, single ventricle in 5 cases, tricuspid atresia in 2 cases and intact ventricular septum in 1 case. 3. The classification according to the pattern of pulmonary artery is main pulmonary trunk with PDA(Type Ia) in 10 cases, pulmonary arterial confluence with PDA (Type Ib) in 10 cases, no pulmonary arterial confluence with PDA (Type Ic) in 5 cases, main pulmonary trunk without PDA (Type IIa) in 0 case, pulmonary arterial confluence without PDA (Type IIb) in 5 cases, and no pulmonary arterial confluence without PDA ( Type IIc) in 2 cases. 4. Pulmonary wedge venography was done and successful in 8 cases. Among them, confluence between right and left pulmonary arteries was noticed in 5 cases. 5. Biventricular cineangiograpy and/or pulmonary wedge venography, if necessary, is essential for the accurate diagnosis of pulmonary atresia to demonstrate detailed anatomy of pulmonary artery

  2. Radiological evaluation of pulmonary atresia: An analysis of cineangiography in 32 cases

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Dong Ho; Yeon, Kyung Mo; Park, Jae Hyung; Han, Man Chung; Yoon, Yong Soo [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1983-06-15

    Total 32 cases of pulmonary atresia were diagnosed radiographically at Seoul National University Hospital from March, 1979 to August 1982. Some characteristic radiological findings were analyzed in chest PA and cineangiographies. The results were as follows: 1. In the evaluation of chest PA, cardiomegaly was noticed in 16 cases, dextrocardia in 8 cases, elevated cardiac apex in 7 cases and right-sided aortic arch in 6 cases. The pulmonary vascularties were mildly decreased in 20 cases, markedly decreased in 9 cases and decreased with reticular pattern in 3 cases. 2. As final diagnoses after cineangiography, pulmonary atresia was associated with Tetralogy of Fallot variant in 17 cases, transposition of great vessels in 7 cases, single ventricle in 5 cases, tricuspid atresia in 2 cases and intact ventricular septum in 1 case. 3. The classification according to the pattern of pulmonary artery is main pulmonary trunk with PDA(Type Ia) in 10 cases, pulmonary arterial confluence with PDA (Type Ib) in 10 cases, no pulmonary arterial confluence with PDA (Type Ic) in 5 cases, main pulmonary trunk without PDA (Type IIa) in 0 case, pulmonary arterial confluence without PDA (Type IIb) in 5 cases, and no pulmonary arterial confluence without PDA ( Type IIc) in 2 cases. 4. Pulmonary wedge venography was done and successful in 8 cases. Among them, confluence between right and left pulmonary arteries was noticed in 5 cases. 5. Biventricular cineangiograpy and/or pulmonary wedge venography, if necessary, is essential for the accurate diagnosis of pulmonary atresia to demonstrate detailed anatomy of pulmonary artery.

  3. Absent right coronary artery: A case of single coronary artery or congenital ostial atresia?

    Science.gov (United States)

    Gupta, Mohit D; Girish, M P; Vignesh, Vickram; Narang, Poonam; Trehan, Vijay; Tyagi, Sanjay

    2015-12-01

    Atresia of the right coronary artery ostium is a rare anatomic variant of the coronary circulation. It is often difficult to differentiate from single coronary artery. Its presence unassociated with any other anomaly has never been described in an adult individual. We report this unusual anomaly and discuss its anatomical and pathophysiological significance and possible ways to differentiate from single coronary artery. Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

  4. Thoracic skeletal anomalies following surgical treatment of esophageal atresia. Lessons from a national cohort.

    Science.gov (United States)

    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

    2018-04-01

    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.

  5. Specific echocardiographic findings useful for the diagnosis of common pulmonary vein atresia

    Directory of Open Access Journals (Sweden)

    Hiroyuki Nagasawa

    2015-12-01

    Full Text Available In this paper, we report a case of common pulmonary vein atresia, which is a very rare disease characterized by cyanosis, heart failure and pulmonary hypertension. Reverse flow in the pulmonary artery at end-diastole as well as in the isthmus of the aorta from early systole to end-diastole detected by echocardiography were found to be specific features useful in diagnosing the disease.

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

    Science.gov (United States)

    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

  7. Vaginal anomalies and atresia associated with imperforate anus: diagnosis and surgical management.

    Science.gov (United States)

    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.

  8. Rare case of bilateral aural atresia and cochlear dysplasia: when cochlear implantation is not the answer.

    Science.gov (United States)

    Svrakic, Maja

    2018-02-17

    Reports of patients with concurrent middle and inner ear anomalies are rare. These patients present a surgical challenge for cochlear implantation. The surgical risk must be weighed against the predicted benefit of the patient's hearing outcome and subsequent development of speech and language as well as their quality of life. Thirteen-year-old boy presented to the Otology clinic for auditory rehabilitation options. He has mild developmental delay, is non-verbal and communicates via American Sign Language. He was born with bilateral aural atresia and never wore amplification. On exam he has grade 1 microtia and complete ear canal atresia bilaterally. His behavioural hearing test shows profound sensorineural hearing loss of both ears. The computed tomography scan shows bilateral underdeveloped and completely opacified mastoid and middle ear, complete bony atresia of the ear canals, and an under-partitioned cochlea with poorly defined modiolus, among other abnormalities. The patient and his family were counselled on the available options as well as the need for any further studies. Counselling of patient and family. While there have been reports in the literature of performing cochlear implantations in patients with a concurrent atresia and cochlear dysplasia, these were patients whose degree of inner ear anomalies was relatively minor and their prognosis of a good audiological outcome was favourable. The presented case is that of a patient for whom the surgical approach to the cochlea alone would be difficult. More importantly, his quality of life would not significantly improve in light of the predicted limited hearing and language development outcomes, given the severity of his inner ear abnormalities, limited communication abilities, prolonged period of deafness and developmental delays.

  9. Accuracy of prenatal ultrasound in detecting jejunal and ileal atresia: systematic review and meta-analysis.

    Science.gov (United States)

    Virgone, C; D'antonio, F; Khalil, A; Jonh, R; Manzoli, L; Giuliani, S

    2015-05-01

    The accuracy of prenatal ultrasound examination in detecting jejunal and ileal atresia has been reported in the literature to be highly variable, at 25-90%. The aim of this systematic review was to evaluate the accuracy of prenatal ultrasound in detecting non-duodenal small bowel atresia (ND-SBA). MEDLINE, EMBASE and The Cochrane Library, including The Cochrane Database of Systematic Reviews (CDSR), Database of Abstracts of Reviews of Effects (DARE) and The Cochrane Central Register of Controlled Trials (CENTRAL), were searched electronically. The overall detection rate of jejunal or ileal atresia using ultrasound was reported. The accuracy of using polyhydramnios and dilated loops of bowel as diagnostic signs was also explored. Sixteen studies involving 640 fetuses were included in this review. The detection rate of ND-SBA by prenatal ultrasound was highly variable, with values ranging from 10 to 100%, with an overall prediction of 50.6% (95% CI, 38.0-63.2%). When analyzed separately, the detection rates of jejunal and ileal atresia were 66.3%, (95% CI, 33.9-91.8%) and 25.9% (95% CI, 4.0-58.0%), respectively. Both dilated loops of bowel and polyhydramnios as diagnostic signs for ND-SBA provided a low overall detection rate. The diagnostic performance of prenatal ultrasound in identifying ND-SBA is extremely variable. Large studies are needed in order to identify objective and combined criteria for the diagnosis of these anomalies. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  10. Early neonatal death and congenital left coronary abnormalities: ostial atresia, stenosis and anomalous aortic origin.

    Science.gov (United States)

    Laux, Daniela; Bessières, Bettina; Houyel, Lucile; Bonnière, Maryse; Magny, Jean-François; Bajolle, Fanny; Boudjemline, Younes; Bonnet, Damien

    2013-04-01

    Congenital left coronary artery abnormalities such as ostial stenosis or atresia are extremely rare. Diagnosis in the neonate has not been reported. To describe five neonates with left coronary artery orifice abnormalities and discuss pathophysiology, diagnosis and treatment options, with a focus on the importance of autopsy in unexpected neonatal death. Retrospective assessment of medical files of neonates with left coronary abnormalities seen during a 12-year period (2000-2012). Three neonates with anatomical (n=2) and functional (n=1) left coronary stenosis and two neonates with ostial atresia were identified. The three infants with coronary stenosis died within minutes to days after birth because of cardiac failure refractory to intensive care treatment; at autopsy, left coronary ostial stenosis (n=2) and high take-off with acute angle origin and tangential vertical course (n=1) were diagnosed. The fourth neonate was in cardiac failure due to critical aortic stenosis; left coronary ostial atresia was diagnosed during an emergency catheter procedure and the infant died after aortic valve dilatation. The fifth infant had a cardiac arrest on the third day of life; she was diagnosed with left coronary ostial atresia by coronary angiography and died during attempted revascularization surgery at 2 weeks of life. Congenital coronary ostial abnormalities can lead to severe heart failure and unexpected neonatal death. Systematic examination of the coronary arteries should be part of any neonatal autopsy. Coronary angiography remains the diagnostic method of choice despite advances in non-invasive imaging. Revascularization surgery seems indicated in symptomatic children based on small patient series. Copyright © 2013. Published by Elsevier Masson SAS.

  11. Multidetector Computed Tomography Assessment in Biliary Atresia for the Diagnosis of Portosystemic Collaterals before Liver Transplant

    International Nuclear Information System (INIS)

    Cadavid A, Lina; Barber, Ignasi; Bueno, Javier

    2011-01-01

    Introduction: Chronic liver disease increases portal vein pressure and modifies splanchnic circulation. This is particularly significant in infants with biliary atresia. Large collaterals steal portal flow and increase the risk of post transplant portal vein thrombosis. Objective: to describe different types of portosystemic collaterals prior to liver transplantation with low-dose multidetector CT (MDCT) in patients with biliary atresia. Material and methods: 13 patients with severe liver dysfunction due to biliary atresia underwent low-dose 64-MDCT before liver transplantation (effective tube current ranged from 20 to 120 mAs according to weight, with a kilo voltage of 80-120 for all CT). Hepatic arterial and portal venous phases were performed after IV contrast administration [1.5-2 ml/kg]. The mean age of the study group was1 year (range, 4 months to 3.6 years). Two radiologists reviewed the CT images to determine the grade and types of the portosystemic collaterals. Results: A total of 16 CT scans were obtained.the most common portosystemic collaterals found were esophageal (11), gastric submucosal (8), gastric adventitial (7, splenic (7), hemorrhoidal (10), mesenteric [dilated or tortuous branches of the inferior mesenteric vein (8)], retroperitoneal varices [gastro renal shunt (10), splenorenal shunt (4)] and dilated or tortuous left gastric vein (13). Conclusion: MDCT provides important information on venous system patency, presence of varices, and location of venous shunts in pediatric patients with biliary atresia going to liver transplant. in addition, it is critical to detect collaterals that are not evident on ultrasound in order to avoid the steal phenomenon that may lead to portal vein thrombosis and graft failure.

  12. Demonstration of ascending aorta in hypoplastic left heart syndrome with aortic atresia by balloon occlusion aortography

    International Nuclear Information System (INIS)

    Lo, R.N.S.; Leung, M.P.; Lau, K.C.

    1987-01-01

    Balloon occlusion angiography in the descending aorta produced clear retrograde visualization of the hypoplastic ascending aorta and related structures in eighteen neonates with aortic atresia. Transient bradycardia was the only complication observed. It is technically simpler than retrograde cannulation of the aorta via an arteriotomy and should be the method of choice when cardiac catheterization is required in patients with the hypoplastic left heart syndrome. (orig.)

  13. Pulmonary squamous cell carcinoma associated with repaired congenital tracheoesophageal fistula and esophageal atresia.

    Science.gov (United States)

    Esquibies, Americo E; Zambrano, Eduardo; Ziai, James; Kesebir, Deniz; Touloukian, Robert J; Egan, Marie E; Reyes-Múgica, Miguel; Bazzy-Asaad, Alia

    2010-02-01

    We report a 19-year-old man with pulmonary squamous cell carcinoma (SCC) who had a history of vertebral, anal, cardiac, tracheal, esophageal, renal, and radial limb defects (VACTERL) association and tracheoesophageal fistula (TEF) + esophageal atresia (EA) repair as an infant. Children that undergo TEF + EA repair may have an increased risk for developing cancer as they reach adulthood. (c) 2010 Wiley-Liss, Inc.

  14. Split thickness skin graft for cervicovaginal reconstruction in congenital atresia of cervix.

    Science.gov (United States)

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

    2015-10-01

    To introduce a new technique that combines laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft in patients with congenital atresia of the cervix. Video article introducing a new surgical technique. University hospital. A 16-year-old patient with congenital cervical atresia, vaginal dysgenesis, and ovarian endometrial cyst. An original technique of combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft for cervicovaginal reconstruction. A midline incision at the vaginal introitus was made, and a 9-cm canal was made between the bladder and the rectum using sharp and blunt dissection along the anatomic vaginal route, with the aid of laparoscopy to ensure correct orientation. A 14 × 12 cm split thickness skin graft was harvested from the right lateral thigh. By laparoscopy, the level of the lowest pole of the uterine cavity was exposed and the cervix was incised by shape dissection. The proximal segment of the harvested skin to the lower uterine segment was secured, and the distal segment was sutured with the upper margin of vulva vaginally. Surgical technique reports in anonymous patients are exempted from ethical approval by the Institutional Review Board. The patient gave consent to use the video in the article. The procedure was successfully completed. Since February 2013, our experiences of combined laparoscopic and vaginal cervicovaginal reconstruction using split thickness skin graft in 10 patients with congenital atresia of cervix were positive, with successful results and without complications or cervical, or vaginal stenosis. Our technique is feasible and safe for congenital atresia of cervix, with successful results and without complications or cervical or vaginal stenosis. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  15. Neonatal gastric outlet obstruction by isolated pyloric atresia, an often forgotten diagnosis.

    Science.gov (United States)

    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.

  16. Decisional Conflict in Parents Considering Bone-Anchored Hearing Devices in Children With Unilateral Aural Atresia.

    Science.gov (United States)

    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.

  17. The Potential Benefits of Applying Recent Advances in Esophageal Motility Testing in Patients with Esophageal Atresia

    Directory of Open Access Journals (Sweden)

    Nathalie Rommel

    2017-06-01

    Full Text Available Infants and children with esophageal atresia commonly present with swallowing dysfunction or dysphagia. Dysphagia can lead to a range of significant consequences such as aspiration pneumonia, malnutrition, dehydration, and food impaction. To improve oral intake, the clinical diagnosis of dysphagia in patients with esophageal atresia should focus on both the pharynx and the esophagus. To characterize the complex interactions of bolus flow and motor function between mouth, pharynx, and esophagus, a detailed understanding of normal and abnormal deglutition is required through the use of adequate and objective assessment techniques. As clinical symptoms do not correlate well with conventional assessment methods of motor function such as radiology or manometry but do correlate with bolus flow, the current state-of-the-art diagnosis involves high-resolution manometry combined with impedance measurements to characterize the interplay between esophageal motor function and bolus clearance. Using a novel pressure flow analysis (PFA method as an integrated analysis method of manometric and impedance measurements, differentiation of patients with impaired esophago-gastric junction relaxation from patients with bolus outflow disorders is clinically relevant. In this, pressure flow matrix categorizing the quantitative PFA measures may be used to make rational therapeutic decisions in patients with esophageal atresia. Through more advanced diagnostics, improved understanding of pathophysiology may improve our patient care by directly targeting the failed biomechanics of both the pharynx and the esophagus.

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

    Directory of Open Access Journals (Sweden)

    Abdel-Aziz Mosaad

    2012-06-01

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

  19. MRI-based decision tree model for diagnosis of biliary atresia.

    Science.gov (United States)

    Kim, Yong Hee; Kim, Myung-Joon; Shin, Hyun Joo; Yoon, Haesung; Han, Seok Joo; Koh, Hong; Roh, Yun Ho; Lee, Mi-Jung

    2018-02-23

    To evaluate MRI findings and to generate a decision tree model for diagnosis of biliary atresia (BA) in infants with jaundice. We retrospectively reviewed features of MRI and ultrasonography (US) performed in infants with jaundice between January 2009 and June 2016 under approval of the institutional review board, including the maximum diameter of periportal signal change on MRI (MR triangular cord thickness, MR-TCT) or US (US-TCT), visibility of common bile duct (CBD) and abnormality of gallbladder (GB). Hepatic subcapsular flow was reviewed on Doppler US. We performed conditional inference tree analysis using MRI findings to generate a decision tree model. A total of 208 infants were included, 112 in the BA group and 96 in the non-BA group. Mean age at the time of MRI was 58.7 ± 36.6 days. Visibility of CBD, abnormality of GB and MR-TCT were good discriminators for the diagnosis of BA and the MRI-based decision tree using these findings with MR-TCT cut-off 5.1 mm showed 97.3 % sensitivity, 94.8 % specificity and 96.2 % accuracy. MRI-based decision tree model reliably differentiates BA in infants with jaundice. MRI can be an objective imaging modality for the diagnosis of BA. • MRI-based decision tree model reliably differentiates biliary atresia in neonatal cholestasis. • Common bile duct, gallbladder and periportal signal changes are the discriminators. • MRI has comparable performance to ultrasonography for diagnosis of biliary atresia.

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

    Science.gov (United States)

    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].

  1. Vibrant Soundbridge®in preschool children with unilateral aural atresia: acceptance and benefit.

    Science.gov (United States)

    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 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.

  2. [Gluteus maximus transplantation for fecal incontinence after surgery of high anal atresia].

    Science.gov (United States)

    Kong, Feiteng; Li, Fuyu; Liu, Juxian; Chen, Yongmei; Wu, Yang; Yang, Xiaodong; Xiang, Bo

    2012-05-01

    To investigate the application of gluteus maximus transplantation for fecal incontinence after surgery of high anal atresia. Between December 2002 and November 2010, 25 patients with fecal incontinence were treated with gluteus maximus transplantation, which was caused by surgery of high anal atresia. There were 11 males and 14 females with an average age of 10.2 years (range, 3-22 years). Preoperative radiography, anorectal manometer, and electromyogram showed abnormality or deficiency of anal sphincter function. Wexner score, Fecal Incontinence Quality of Life (FIQL) questionnaire, and Self-rated Health Measurement Scale Version 1.0 (SRHMS) score were used to evaluate life quality of the patients. The anorectal manometer, intra-rectal ultrasound examination, and defecation radiography were performed. Healing of incision by first intention was achieved in 23 cases and rectal-wound fistula occurred in 2 cases. The follow-up time was 1 to 9 years (mean, 6.3 years). Defecation frequency was decreased from more than 10 times to 4-6 times every day. Wexner score and SRHMS were significantly improved at 1 or 2 years after surgery when compared with preoperative socres (P Gluteus maximus transplantation can improve defecation controls in the patients with fecal incontinence after surgery of high anal atresia.

  3. A Tutorial on Implantable Hearing Amplification Options for Adults with Unilateral Microtia and Atresia

    Science.gov (United States)

    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

  4. A Tutorial on Implantable Hearing Amplification Options for Adults with Unilateral Microtia and Atresia

    Directory of Open Access Journals (Sweden)

    Joannie Ka Yin Yu

    2014-01-01

    Full Text Available 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.

  5. Gastric and intestinal surgery.

    Science.gov (United States)

    Fossum, Theresa W; Hedlund, Cheryl S

    2003-09-01

    Gastric surgery is commonly performed to remove foreign bodies and correct gastric dilatation-volvulus and is less commonly performed to treat gastric ulceration or erosion, neoplasia, and benign gastric outflow obstruction. Intestinal surgery, although commonly performed by veterinarians, should never be considered routine. The most common procedures of the small intestinal tract performed in dogs and cats include enterotomy and resection/anastomosis. Surgery of the large intestine is indicated for lesions causing obstruction, perforations, colonic inertia, or chronic inflammation.

  6. Intestinal parasites and tuberculosis

    Directory of Open Access Journals (Sweden)

    Anuar Alonso Cedeño-Burbano

    2017-10-01

    Conclusions: The available evidence was insufficient to affirm that intestinal parasites predispose to developing tuberculous. The studies carried out so far have found statistically insignificant results.

  7. Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

    Science.gov (United States)

    Goos, Jacqueline A C; Swagemakers, Sigrid M A; Twigg, Stephen R F; van Dooren, Marieke F; Hoogeboom, A Jeannette M; Beetz, Christian; Günther, Sven; Magielsen, Frank J; Ockeloen, Charlotte W; A Ramos-Arroyo, Maria; Pfundt, Rolph; Yntema, Helger G; van der Spek, Peter J; Stanier, Philip; Wieczorek, Dagmar; Wilkie, Andrew O M; van den Ouweland, Ans M W; Mathijssen, Irene M J; Hurst, Jane A

    2017-10-01

    Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural cardiac abnormalities, conductive and sensorineural hearing loss, and cleft lip. Recently, causative compound heterozygous variants were identified in TXNL4A. We analyzed an individual with clinical features of BMKS and her parents by whole-genome sequencing and identified compound heterozygous variants in TXNL4A (a novel splice site variant (c.258-2A>G, (p.?)) and a 34 bp promoter deletion (hg19 chr18:g.77748581_77748614del (type 1Δ) in the proband). Subsequently, we tested a cohort of 19 individuals with (mild) features of BMKS and 17 individuals with isolated choanal atresia for causative variants in TXNL4A by dideoxy-sequence analysis. In one individual with BMKS unrelated to the first family, we identified the identical compound heterozygous variants. In an individual with isolated choanal atresia, we found homozygosity for the same type 1Δ promoter deletion, whilst in two cousins from a family with choanal atresia and other minor anomalies we found homozygosity for a different deletion within the promoter (hg19 chr18: g.77748604_77748637del (type 2Δ)). Hence, we identified causative recessive variants in TXNL4A in two individuals with BMKS as well as in three individuals (from two families) with isolated choanal atresia.

  8. Ileal atresia and thrombo-embolic liver calcifications diagnosed after treatment with intrauterine laser coagulation therapy for twin-to-twin transfusion syndrome - Report of 2 cases

    NARCIS (Netherlands)

    Schnater, J. Marco; van Zalen-Sprock, Rieteke M.; Schaap, Artie H. P.; Festen, Sebastiaan; Aronson, Daniel C.

    2005-01-01

    Ileal atresia is considered to be an acquired anomaly. It is thought to be caused by a mesenteric vascular accident during fetal life which leads to necrosis of downstream tissues. We present a case in which ileal atresia occurred after intrauterine laser coagulation therapy for a twin-to-twin

  9. Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association

    NARCIS (Netherlands)

    de Jong, Elisabeth M.; Felix, Janine F.; Deurloo, Jacqueline A.; van Dooren, Marieke F.; Aronson, Daniel C.; Torfs, Claudine P.; Heij, Hugo A.; Tibboel, Dick

    2008-01-01

    BACKGROUND: The VACTERL association is the nonrandom co-occurrence of Vertebral anomalies, Anal atresia, Cardiovascular malformations, Tracheo-esophageal fistula (TEF) and/or Esophageal atresia (EA), Renal anomalies, and/or Limb-anomalies. The full phenotype of patients with EA/TEF and other

  10. Acute iliofemoral venous thrombosis in patients with atresia of the inferior vena cava can be treated successfully with catheter-directed thrombolysis

    DEFF Research Database (Denmark)

    Broholm, Rikke; Jørgensen, Maja; Just, Sven

    2011-01-01

    To assess the effectiveness and clinical outcomes of catheter-directed thrombolysis in patients with atresia of the inferior vena cava (IVC) and acute iliofemoral deep vein thrombosis (DVT).......To assess the effectiveness and clinical outcomes of catheter-directed thrombolysis in patients with atresia of the inferior vena cava (IVC) and acute iliofemoral deep vein thrombosis (DVT)....

  11. Bronchoscopy and Fogarty Balloon Insertion of Distal Tracheo-Oesophageal Fistula for Oesophageal Atresia Repair With Video Illustration.

    Science.gov (United States)

    Rinkel, Rico; Van Poll, Daan; Sibarani-Ponsen, Renate; Sleeboom, Christien; Bakx, Roel

    2017-01-01

    During repair of esophageal atresia with distal tracheo-esophageal fistula, air leakage through the fistula during mechanical ventilation can cause respiratory demise. From February 2012 until November 2014, all patients with esophageal atresia and distal tracheo-esophageal fistula were subjected to preoperative tracheobronchoscopy. Relatively distal fistulas were cannulated with a Fogarty catheter and blocked by insufflation (video illustration). Relatively proximal distal fistulas were sealed by precise placement of a cuffed ventilation tube. Nine of 12 patients received Fogarty balloon placement. The fistula of the remaining 3 patients were sealed by careful tube placement. No complications related to tracheobronchoscopy or Fogarty placement were noted. All procedures were uneventful. Preoperative tracheobronchoscopy to evaluate the usefulness of Fogarty balloon insertion or correct tube placement for distal tracheo-esophageal fistula is a safe and easy to perform procedure that can avoid complications in type C esophageal atresia repair. © The Author(s) 2016.

  12. [Multicenter clinical study of bone-anchored hearing aids in Japan--application for congenital auricular atresia].

    Science.gov (United States)

    Fukushima, Kunihiro; Kariya, Shin; Nagayasu, Rie; Fukuda, Satoshi; Kobayashi, Toshimitsu; Kitamura, Ken; Kumakawa, Kozo; Usami, Shinichi; Iwasaki, Satoshi; Doi, Katsumi; Gyo, Kiyofumi; Tono, Tetsuya; Nishizaki, Kazunori

    2011-09-01

    The effectiveness of bone anchored hearing aid (BAHA) for the patients with congenital aural atresia was evaluated by multicenter clinical study in Japan. Twenty patients (17 bilateral and 3 hemilateral) of congenital auricular atresia were registered for this study and finally, 18 of them (15 bilateral and 3 unilateral) were subjected to further evaluation. Primary endpoint of this study was free sound-field pure-tone audiometory and speech threshold hearing test in quiet and noisy circumstances. Secondary endpoint of this study was patient's satisfaction based upon APHAB (Abbreviated Profile of Hearing Aid Benefit) questionnaire survey. These results were compared between before and 12 weeks after BAHA surgery. Both hearing level of pure tone and speech threshold significantly improved after BAHA surgery. APHAB scores also suggested the improvement of the QOL after BAHA usage, except for the scores that concerned with unpleasantness of noisy sound. BAHA is one of the useful options for the treatment of congenital auricular atresia.

  13. adhesive intestinal obstruction

    African Journals Online (AJOL)

    2006-06-01

    Jun 1, 2006 ... ABSTRACT. Background: Adhesions after abdominal and pelvic surgery are a major cause of intestinal obstruction in the western world and the pathology is steadily gaining prominence in our practice. Objective: To determine the magnitude of adhesive intestinal obstruction; to determine the types.

  14. Estudo angiográfico da circulação pulmonar na tetralogia de Fallot com atresia pulmonar Angiographic study of pulmonary circulation in tetralogy of Fallot with pulmonary atresia

    Directory of Open Access Journals (Sweden)

    Marco Aurélio Santos

    2005-02-01

    Full Text Available OBJETIVO: Identificar os tipos de suprimento sangüíneo vascular pulmonar na tetralogia de Fallot com atresia pulmonar por meio de estudo hemodinâmico. MÉTODOS: Foram submetidos a estudo cineangiocardiográfico 56 pacientes portadores de tetralogia de Fallot com atresia pulmonar com idade de 20 dias a 4 anos e efetuadas injeções de contraste nas seguintes estruturas vasculares: 1 veia pulmonar encunhada, 2 colaterais aortopulmonares, 3 aorta torácica e 4 ductus arteriosus e/ou shunt sistêmico pulmonar. RESULTADOS: Dos 56 pacientes, 15 tinham o suprimento sangüíneo pulmonar através de colaterais aortopulmonares, em 36 o suprimento sangüíneo pulmonar era feito isoladamente pelo ductus arteriosus e em 5 pelo ductus arteriosus e colaterais aortopulmonares. Conforme a presença ou ausência de estruturas vasculares que compõem a circulação pulmonar na tetralogia de Fallot com atresia pulmonar e do tipo de perfusão vascular pulmonar, os doentes foram classificados em 6 tipos. CONCLUSÃO: Em função da grande complexidade e extrema variabilidade do suprimento sangüíneo pulmonar na tetralogia de Fallot com atresia pulmonar torna-se possível, com este tipo de abordagem, a obtenção de informações, suficientemente necessárias, para o correto manuseio clínico-cirúrgico.OBJECTIVE: To identify the types of pulmonary vascular blood supply in tetralogy of Fallot with pulmonary atresia by use of hemodynamic study. METHODS: Fifty-six patients with tetralogy of Fallot and pulmonary atresia, and ages ranging from 20 days to 4 years, underwent cineangiocardiographic study with contrast medium injections in the following vascular structures: 1 wedged pulmonary vein; 2 aortopulmonary collaterals; 3 thoracic aorta; and 4 ductus arteriosus or systemic-pulmonary shunt. RESULTS: In the 56 patients studied, pulmonary blood was supplied as follows: in 15, by aortopulmonary collaterals; in 36, only by the ductus arteriosus; and in 5, by the ductus

  15. Intestinal Barrier and Behavior.

    Science.gov (United States)

    Julio-Pieper, M; Bravo, J A

    2016-01-01

    The intestinal barrier function contributes to gut homeostasis by modulating absorption of water, electrolytes, and nutrients from the lumen into the circulation while restricting the passage of noxious luminal substances and microorganisms. Chronic conditions such as rheumatoid arthritis, inflammatory bowel disease, and celiac disease are associated to intestinal barrier dysfunction. Here, the hypothesis is that a leaky intestinal wall allowing for indiscriminate passage of intraluminal compounds to the vascular compartment could in turn lead to systemic inflammation. An increasing number of studies are now investigating the association between gut permeability and CNS disorders, under the premise that translocation of intestinal luminal contents could affect CNS function, either directly or indirectly. Still, it is unknown whether disruption of intestinal barrier is a causative agent or a consequence in these situations. Here, we discuss the latest evidence pointing to an association between increased gut permeability and disrupted behavioral responses. © 2016 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

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

    2016-11-01

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

  17. The efficiency of sonography in diagnosing volvulus in neonates with suspected intestinal malrotation.

    Science.gov (United States)

    Zhang, Wenhua; Sun, Hongjun; Luo, Fangqiong

    2017-10-01

    This study is to prospectively evaluate the efficiency of sonography for volvulus diagnosis in neonates with clinically suspected intestinal malrotation.A total of 83 patients with suspected intestinal malrotation who underwent detailed abdominal sonography and upper gastrointestinal contrast study were included. Malrotation was characterized by inversion of the superior mesenteric artery (SMA) and superior mesenteric vein (SMV) in sonographic examination. The "whirlpool sign" of Color Doppler Sonography was recognized as a characteristic for malrotation with volvulus. The degrees of rotation of the SMV winding around SMA were also detected by sonography. Surgery was performed in patients with sonography diagnosed malrotation.A total of 39 patients were sonographically diagnosed as malrotation which was subsequently confirmed by surgery. The sensitivity and positive predictive value of the sonographic diagnosis were both 100% (39/39). The sensitivity, specificity and accuracy of "whirlpool sign" for the detection of midgut volvulus were 95.2% (20/21), 88.9% (16/18), and 92.3% (36/39), respectively. Greater degrees of rotation (equal or greater than 720°) showed higher risk (odds ratio, 5.0; P intestinal necrosis occurrence.Sonography is more accurate in diagnosing suspected malrotation than upper gastrointestinal contrast study. Specific sonographic "whirlpool sign" related to volvulus may be used as a potential indicator for intestinal necrosis. In addition, sonography can exclude malrotation and may help the diagnosis of other diseases, such as annular pancreas and duodenal atresia.

  18. Review of surgical and anesthetic management for esophageal atresia with tracheoesophageal fistula, unilateral pulmonary agenesis and dextrocardia.

    Science.gov (United States)

    Rentea, Rebecca M; Oyetunji, Tolulope A; Erkmann, John; Knowlton, Joshua Q; Hendrickson, Richard J

    2017-07-01

    Association of unilateral severe pulmonary atresia or agenesis and esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) and dextrocardia is a rare and highly lethal combination. We report a case of a full-term female infant who had EA with TEF, right lung agenesis, and dextrocardia. Repair of the fistula took place on day of life 3. We describe anesthetic and surgical concerns of this patient's case which are keys to a good operative outcome as well as follow-up for the patient.

  19. Pulmonary ventilation and perfusion abnormalities and ventilation perfusion imbalance in children with pulmonary atresia or extreme tetralogy of Fallot

    International Nuclear Information System (INIS)

    Dowdle, S.C.; Human, D.G.; Mann, M.D.

    1990-01-01

    Xenon-133 lung ventilation and perfusion scans were done preoperatively after cardiac catheterization and cineangiocardiography in 19 children; 6 had pulmonary atresia with an intact ventricular septum and hypoplastic right ventricle, 4 pulmonary atresia with associated complex univentricular heart, and 9 extreme Tetralogy of Fallot. The four patients with discrepancies in the sizes of the left and right pulmonary arteries on angiography had marked asymmetry of pulmonary perfusion and ventilation-perfusion imbalance on scintigraphy. Similar degrees of asymmetry and imbalance were present in 6 of the 15 children with equal-size pulmonary vessels. Asymmetry of pulmonary perfusion and ventilation-perfusion imbalance were associated with a poor prognosis

  20. Pulmonary ventilation and perfusion abnormalities and ventilation perfusion imbalance in children with pulmonary atresia or extreme tetralogy of Fallot

    Energy Technology Data Exchange (ETDEWEB)

    Dowdle, S.C.; Human, D.G.; Mann, M.D. (Univ. of Cape Town (South Africa))

    1990-08-01

    Xenon-133 lung ventilation and perfusion scans were done preoperatively after cardiac catheterization and cineangiocardiography in 19 children; 6 had pulmonary atresia with an intact ventricular septum and hypoplastic right ventricle, 4 pulmonary atresia with associated complex univentricular heart, and 9 extreme Tetralogy of Fallot. The four patients with discrepancies in the sizes of the left and right pulmonary arteries on angiography had marked asymmetry of pulmonary perfusion and ventilation-perfusion imbalance on scintigraphy. Similar degrees of asymmetry and imbalance were present in 6 of the 15 children with equal-size pulmonary vessels. Asymmetry of pulmonary perfusion and ventilation-perfusion imbalance were associated with a poor prognosis.

  1. Use of "Gore-Tex surgical membrane" to minimize surgical adhesions in multistaged extrathoracic esophageal elongation for esophageal atresia.

    Science.gov (United States)

    Dessanti, A; Caccia, G; Iannuccelli, M; Dettori, G

    2000-04-01

    The procedure of choice in the surgical correction of "long gap" esophageal atresia should, when possible, preserve the native esophagus. We present a modification of "the multistaged extrathoracic esophageal elongation method," designed to facilitate esophageal elongation and use of a Gore-Tex (W.L. Gore and Associates, Flagstaff, AZ) surgical membrane to minimize surgical adhesions. We used this technique to successfully treat a 1-kg infant, with type A esophageal atresia, associated aortic coartation, and severe necrotizing enterocolitis with multiple perforations. Multistaged extrathoracic esophageal elongation was begun at the age of 9 months and concluded at 17 months.

  2. Our Experience of Treating Wide Spectrum of External Ear Canal Atresia of Different Etiologies in Pediatric Patients.

    Science.gov (United States)

    Bhavana, Kranti

    2017-09-01

    External auditory canal atresia (EACA) is a common otologic condition. Etiology can vary from congenital to acquired causes. It causes considerable difficulty to the patient. Bilateral ear canal atresia in children can lead to speech delays due to hearing impairment caused by this condition. Though easily diagnosed it is one of the most difficult conditions to treat. Acquired conditions can affect any age group. Restenosis following treatment is very common. This article focuses on the treatment of EACA due to different etiologies and emphasizes on special points of surgical treatment and follow up. Five cases of external auditory canal atresia was treated between 2014 and 2016. Two of them were congenital cases and three were acquired. One congenital atresia patient had pinna abnormalities in the form of one sided anotia and other side microtia. Another patient of congenital ear canal atresia had congenital cholesteatoma. Acquired atresia was due to osteoma, external trauma and surgical trauma following a condylectomy surgery. All the patients were treated surgically. A wide meatoplasty with split thickness skin graft lining the canal/cavity was done to avoid restenosis. Merocel wicks were used in all cases. Removal of localized granulations on follow up helped keep the canal patent especially in congenital EACA. All patients had significant hearing improvement following surgery. Child with bilateral atresia and pinna anomaly has now achieved normal hearing and speech milestones. She does not use any hearing aid. None of the patients developed restenosis of their reconstructed ear canal. One of the patient developed granulations around the meatoplasty edges which was cauterized using silver nitrate. External auditory canal atresia surgery is a difficult surgery keeping in view the distorted anatomy and the propensity of restenosis of the newly constructed ear canal. Hearing restoration in the operated ear is all the more challenging. Meticulous planning with close

  3. Aesthetic and hearing rehabilitation in patients with bilateral microtia-atresia.

    Science.gov (United States)

    Fan, Xinmiao; Wang, Yibei; Wang, Pu; Fan, Yue; Chen, Yu; Zhu, Yuanli; Chen, Xiaowei

    2017-10-01

    To evaluate the safety and efficacy of auricle reconstruction and active transcutaneous bone-conduction implantation in patients with bilateral microtia-atresia. Patients were chosen prospectively, with each being his/her own control. The setting was a tertiary referral center. Twelve patients, aged 6-18 years, with bilateral microtia-atresia suffering from bilateral conductive hearing loss. All had an upper bone conduction threshold limit of 45 dB HL at frequencies of 0.5-4 kHz. Patient satisfaction with the reconstructed auricle was rated as highly satisfactory, basically satisfactory, or unsatisfactory. Mean pure-tone thresholds and speech audiometry test results were compared among patients unaided, with a soft-band Bonebridge, and with an implanted Bonebridge. Subjective satisfaction was analyzed using three questionnaires: the Abbreviated Profile of Hearing Aid Benefit (APHAB), the Glasgow children's benefit inventory (GCBI), and the International Outcome Inventory for Hearing Aids (IOI-HA). All patients who underwent auricle reconstruction expressed satisfaction with their appearance. The mean pure-tone thresholds of unaided patients and those with soft-band and implanted Bonebridge were 55.25 ± 3.43 dBHL, 31.37 ± 3.03 dBHL, and 21.25 ± 2.16 dBHL, respectively. The mean speech discrimination scores measured in a sound field with a presentation level of 65 dB SPL under these three conditions were 46.0 ± 0.11%, 80.0 ± 0.09%, and 94.0 ± 0.02%, respectively. Questionnaires demonstrated patients' benefits and satisfaction with this surgery. The surgical procedure involving auricle reconstruction and Bonebridge implantation was safe and effective for patients with bilateral microtia-atresia, solving both appearance and hearing problems. Copyright © 2017. Published by Elsevier B.V.

  4. Transcriptome profiling of the theca interna from bovine ovarian follicles during atresia.

    Directory of Open Access Journals (Sweden)

    Nicholas Hatzirodos

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

  5. Uterovaginal Anastomosis for Cases of Cryptomenorrhea Due to Cervical Atresia with Vaginal Aplasia: Benefits and Risks.

    Science.gov (United States)

    Zayed, M; Fouad, R; Elsetohy, K A; Hashem, A T; AbdAllah, A A; Fathi, A I

    2017-12-01

    The objective of this study was to assess short-term benefits and risks of utero-vaginal anastomosis done for cases of cryptomenorrhea due to cervical atresia with vaginal aplasia. Prospective study. Surgical procedures were done between December 2013 and September 2015 at the department of Obstetrics and Gynecology, Cairo University Hospital. Five patients who had cryptomenorrhea due to cervical atresia associated with vaginal aplasia were included. Utero-vaginal anastomoses were performed in 2 stages; a stage of McIndoe vaginoplasty and a stage of excision of the atretic cervical tissue and anastomosing the uterus to the neovagina. Follow-up was done by gynecological and ultrasound examination in a duration ranged from 12 to 36 months. Occurrence of regular menstrual flow and relief of the severe cyclic pain. All patients had relief of the severe cyclic pain. Four patients had regular menstrual flow. One patient developed occlusion of the track after 1 year and needed dilatation once. Three patients developed low vaginal stenosis without occlusion of the track. One patient had rectal injury repaired without causing postoperative morbidity. Uterovaginal anastomosis is a promising conservative management option for cervical atresia with vaginal aplasia, which has benefits but is not free of risks. Long-term follow-up is still needed to judge its feasibility. We recommend performing McIndoe vaginoplasty as a starting stage before the anastomosis preferably in a separate setting. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  6. Pulmonary atresia with intact ventricular septum and agenesis of the ductus arteriosus in a pup

    International Nuclear Information System (INIS)

    Brown, D.J.; Patterson, D.F.

    1989-01-01

    A 7-week-old Wire Fox Terrier was admitted with pulmonary atresia with intact ventricular septum. The right ventricle and tricuspid valve were hypoplastic, and venous return to the right atrium reached the left side through an atrial septal defect. Oxygenation was via hyperplastic bronchial arteries. There was no evidence of the ductus arteriosus. Physical examination, plain and contrast radiography, and electrocardiography were performed. Clinical findings for this combination of defects were similar to those of more common defects (tetralogy of Fallot, patent ductus arteriosus

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

    Science.gov (United States)

    La Placa, Simona; Giuffrè, Mario; Gangemi, Antonella; Di Noto, Stefania; Matina, Federico; Nociforo, Federica; Antona, Vincenzo; Di Pace, Maria Rita; Piccione, Maria; Corsello, Giovanni

    2013-07-10

    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. 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. 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 phenotype). The high frequency

  8. Results of VSB implantation at the short process of the incus in children with ear atresia.

    Science.gov (United States)

    Célérier, Charlotte; Thierry, Briac; Coudert, Cyrille; Blanchard, Marion; Loundon, Natalie; Garabédian, Erea Noel; Denoyelle, Françoise

    2017-02-01

    To describe a new and more simple surgical procedure for implanting the Vibrant Soundbridge (VSB) on the short process of the incus in children with ear atresia and atretic plate and present the audiometric results. Since 2014, pre- and post-operative audiometric tests with tonal and vocal audiometryat the maximal follow up, respectively 33, 22 and 12 months were performed after VSB implantation at the ENT department, Necker Enfants Malades Hospital, Paris, France. 3 children aged 11, 9 and 15 years with conductive hearing loss due to high grade ear atresia and absent ear canal were implanted. The malformed and fused malleus-incus complex was found to be immobile in two of the subjects, who then underwent a superior tympanotomy to carefully remobilize the malleus. Stapes were mobile in all cases. The FMT clip was customized and crimped on the short process, stabilized by the metallic wire. At the maximum follow-up time, the bone conduction was unchanged, and the mean aided ACPTA was 21 dB, 29 dB and 30 dB, compared to 66 dB, 63 dB and 68 dB unaided, respectively. The word recognition score (WRS) at 65 dB SPL increased from 10%, 10% and 70% (unaided) respectively to 100% (aided). The long process of the incus is usually very hypoplastic in patients with ear atresia with a fused malleus-incus complex lateral to the stapes. VSB coupling to the long process of the incus or the stapes may be challenging in small mastoids. Coupling to the short process of the incus is comparatively a simple procedure, since there is no need for posterior tympanotomy and has no proximity to the facial nerve. The results of this study are similar to other ear atresia cases in the literature with classic FMT placement on the stapes or long process of the incus. Outcomes should be confirmed in a larger number of patients. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  9. ATRESIA CONGÉNITA DEL OÍDO Y SU MANEJO

    Directory of Open Access Journals (Sweden)

    Dr. Daniel Orfila

    2016-11-01

    Los implantes cocleares siguen siendo los más usados y en las que se tiene mayor experiencia. Las prótesis de conducción ósea implantables o semi implantables cambiaron el manejo de las atresias y malformaciones de oído externo y medio. Pese a lo prometedor que se visualiza el presente y futuro con el uso de estos dispositivos, siempre se debe tener presente que requieren de un acto quirúrgico para su implantación y que no están exentas de complicaciones, por lo cual se debe elegir juiciosamente la prótesis a usar.

  10. Case report: Isolated unilateral pulmonary vein atresia diagnosed on 128-slice multidetector CT

    Directory of Open Access Journals (Sweden)

    Rashmi Dixit

    2011-01-01

    Full Text Available Unilateral pulmonary venous atresia is an uncommon entity that is generally believed to be congenital. Most patients present in infancy or childhood with recurrent chest infections or hemoptysis. Pulmonary angiography is usually used for definitive diagnosis. However, the current multislice CT scanners may obviate the need for pulmonary angiography. We report two cases diagnosed using 128-slice CT angiography. On the CT angiography images both these cases demonstrated absent pulmonary veins on the affected side, with a small pulmonary artery and prominent bronchial or other systemic arterial supply.

  11. Multiple anastomotic complications following repair of oesophageal atresia with tracheoesophageal fistula: A report of two cases

    Directory of Open Access Journals (Sweden)

    Prashant Jain

    2011-01-01

    Full Text Available This report describes the clinical course and management of two children with multiple anastomotic complications following primary repair of oesophageal atresia (EA with distal tracheoesophageal fistula (TEF. These included anastomotic leak and stricture, oesophageal perforation during antegrade dilatation, and finally a recurrent fistula between the oesophagus and the tracheo-bronchial tree. Ultimately, after multiple operative interventions, a successful outcome was achieved in both patients with preservation of the native oesophagus. The anastomotic complications following primary repair of EA with TEF are discussed, with special reference to difficulties in the management of recurrent TEF.

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

    Directory of Open Access Journals (Sweden)

    Madhavi Nori

    2013-01-01

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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  15. Mycotoxins and the intestine

    Directory of Open Access Journals (Sweden)

    Leon Broom

    2015-12-01

    Full Text Available Fungal biochemical pathways can yield various compounds that are not considered to be necessary for their growth and are thus referred to as secondary metabolites. These compounds have been found to have wide ranging biological effects and include potent poisons (mycotoxins. Mycotoxins invariably contaminate crops and (thus animal feeds. The intestine is the key link between ingested mycotoxins and their detrimental effects on the animal. Effects on the intestine, or intestinal environment, and immune system have been reported with various mycotoxins. These effects are almost certainly occurring across species. Most, if not all, of the reported effects of mycotoxins are negative in terms of intestinal health, for example, decreased intestinal cell viability, reductions in short chain fatty acid (SCFA concentrations and elimination of beneficial bacteria, increased expression of genes involved in promoting inflammation and counteracting oxidative stress. This challenge to intestinal health will predispose the animal to intestinal (and systemic infections and impair efficient digestion and absorption of nutrients, with the associated effect on animal productivity.

  16. Intestinal solute carriers

    DEFF Research Database (Denmark)

    Steffansen, Bente; Nielsen, Carsten Uhd; Brodin, Birger

    2004-01-01

    A large amount of absorptive intestinal membrane transporters play an important part in absorption and distribution of several nutrients, drugs and prodrugs. The present paper gives a general overview on intestinal solute carriers as well as on trends and strategies for targeting drugs and...... membrane transporters in the small intestine in order to increase oral bioavailabilities of drug or prodrug, the major influence on in vivo pharmacokinetics is suggested to be dose-dependent increase in bioavailability as well as prolonged blood circulation due to large capacity facilitated absorption...

  17. Intestinal solute carriers

    DEFF Research Database (Denmark)

    Steffansen, Bente; Nielsen, Carsten Uhd; Brodin, Birger

    2004-01-01

    membrane transporters in the small intestine in order to increase oral bioavailabilities of drug or prodrug, the major influence on in vivo pharmacokinetics is suggested to be dose-dependent increase in bioavailability as well as prolonged blood circulation due to large capacity facilitated absorption......A large amount of absorptive intestinal membrane transporters play an important part in absorption and distribution of several nutrients, drugs and prodrugs. The present paper gives a general overview on intestinal solute carriers as well as on trends and strategies for targeting drugs and...

  18. Associação de agenesia sacrococcígea e atresia anal em gato sem raça definida Sacrococcygeal agenesis association and anal atresia in mixed breed cats

    Directory of Open Access Journals (Sweden)

    Felipe Purcell de Araújo

    2009-09-01

    Full Text Available O presente trabalho teve como objetivo descrever o caso de um felino, que desde o nascimento apresentou atresia anal, ausência de cauda e malformação dos membros pélvicos. Ao exame radiográfico, pôde-se observar presença de agenesia da sétima vértebra lombar, sacro e vértebras coccígeas, espinha bífida, meningocele, hiperflexão dos joelhos e desvio valgo dos tarsos, diagnosticando-se agenesia sacrococcígea associada à atresia anal.This paper has the objective to report a case of a cat that since birth had anal atresia, absence of tail and malformation of the pelvic member. The radiographic examination revealed agenesis of the seventh lumbar vertebra, sacral and coccygeal vertebrae, spina bifida, meningocele, hyperflexion of the knees and tarsal valgus deviation, diagnosing sacrococcygeal agenesis associated with anal atresia.

  19. Utility of hepatobiliary scintigraphy in diagnosing or excluding biliary atresia in premature neonates and full-term infants with conjugated hyperbilirubinemia who received parenteral nutrition.

    Science.gov (United States)

    Barseghyan, Karine; Ramanathan, Rangasamy; Chavez, Thomas; Harlan, Susan; Lin, Chuan-Hao; Mitsinikos, Tania; McLean, Claire

    2017-08-31

    Hepatobiliary scintigraphy (HBS) is used to aid in the diagnosis of Biliary Atresia in full-term infants with conjugated hyperbilirubinemia. There is little information on the utility of the HBS in premature infants with conjugated hyperbilirubinemia and infants with parenteral nutrition associated cholestasis (PNAC). The purpose of this study is to assess the utility of HBS in differentiating Biliary Atresia and PNAC in premature neonates and full-term infants who received parenteral nutrition (PN). Retrospective data collection and analysis on infants who developed conjugated hyperbilirubinemia and had HBS performed during their stay at level IV neonatal intensive care unit between 2005 and 2015. A total of 20 patients with exposure to PN had HBS; two patients were confirmed to have Biliary Atresia. There were no statistically significant differences between patients with Biliary Atresia versus PNAC in demographics, days on PN, or gamma glutamyl-transferase levels. Stool color was statistically significantly different between the two groups; patients with Biliary Atresia had acholic stools more consistently than patients without Biliary Atresia. HBS had 100% sensitivity, 17% specificity, positive-predictive value of 12%, and a negative-predictive value (NPV) of 100%. These data indicate that the ability of HBS to aid in diagnosing Biliary Atresia is poor in a population of preterm neonates and full-term infants with PNAC. Although there is 100% sensitivity, the poor specificity (17%) should be acknowledged when utilizing HBS to diagnose Biliary Atresia in this vulnerable patient population. NPV of 100% is helpful in ruling out Biliary Atresia in this population.

  20. Karyotype analysis of a male exhibiting Meckel's diverticulum and aural atresia

    Energy Technology Data Exchange (ETDEWEB)

    Frizzell, B.; Hicks, M.F. (David Lipscomb Univ., Nashville, TN (United States))

    Patau's Syndrome is caused by inheritance of an extra chromosome 13. It is characterized primarily by severe mental retardation, cleft palate, and retarded growth. Most fetuses expressing Patau's Syndrome spontaneously abort, and those that are born usually die before one year. Both Meckel's diverticulum and aural atresia are defects found in patients with Patau's at levels higher than those in the general population. An otherwise asymptomatic male expressing only Meckel's diverticulum and aural atresia has a female sibling whose son expressed Patau's syndrome. Twenty percent of patients with Patau's show a translocation of part of chromosome 13 to another D chromosome. If a translocation were the cause of the expression of Patau's in this family, it is possible that the normal male inherited a balanced translocation and the Patau's male received an unbalanced translocation. A karyotype analysis of the non-Patau's male was done to determine if such a translocation were present.

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

    Directory of Open Access Journals (Sweden)

    Go Miyano

    2015-01-01

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

  2. [The application of vibrant sound bridge in microtia whose reconstructive external auditory canal occurred atresia].

    Science.gov (United States)

    Zhao, Shouqin; Gong, Shusheng; Han, Demin; Chen, Shubin; Li, Yi; Ma, Xiaobo; Liu, Haihong

    2012-05-01

    To investigate the effect of vibrant sound bridge implantation in microtia whose reconstructive external auditory canal occurred atresia. Three cases (2 males and 1 female) of microtia had underwent hearing reconstruction operation (Include the external ear canal reconstructive surgery and tympanoplasty). The age ranged from 15 to 18 years and the average age was 17 years. All the 3 cases suffered from conductive hearing loss with the air-bone gap ranging from 51.6 to 65.0 dB HL and the average value being 56. 3 dB HL. All the 3 cases underwent vibrant sound bridge implantation, including the floating mass transducer implanted in the head of stapes in 2 cases and in the niche of round window in 1 case. The postoperative hearing level improved from 21.6 to 52.5 dB HL with an average of 32.2 dB HL. There were no complications such as vertigo, tinnitus and facial paralysis. Through vibrant sound bridge implantation, the hearing level of microtia whose reconstructive external auditory canal occurred atresia was improved effectively.

  3. Congenital Left Circumflex Coronary Artery Atresia Detected by 64-Slice Computed Tomography: A Case Report

    Directory of Open Access Journals (Sweden)

    Chen-Yuan Liu

    2007-06-01

    Full Text Available A variety of coronary artery disorders, including intramyocardial coronary segments and coronary artery anomalies, can result in sudden cardiac death, especially in young adults. The detection of structural coronary artery abnormalities is important in the management of patients at risk of sudden cardiac death. Coronary artery anomalies occur in about 1% of the population. Congenital absence of left circumflex coronary artery (LCX is a very rare vascular anomaly, and few cases have been reported in the literature, with a frequency of only 0.003% in all patients who underwent coronary angiography. Although coronary catheterization is the gold standard for the evaluation of coronary arterial patency disease, noninvasive computed tomography (CT is considered the diagnostic method of choice for the detection and evaluation of coronary artery anomaly. Herein, we report the case of a 17-year-old girl who presented with exertional dyspnea and chest pain and who was studied at our emergency department with the final diagnosis of LCX atresia detected by 64-slice CT. She may be the first case of congenital LCX atresia proved by multislice CT.

  4. The contribution of fetal MR imaging to the assessment of oesophageal atresia

    Energy Technology Data Exchange (ETDEWEB)

    Hochart, V.; Verpillat, P.; Bigot, J.; Avni, F.E. [CHRU Lille, Jeanne de Flandre Hospital, Department of Pediatric Radiology, Lille (France); Langlois, C. [EA2694 USDL CHRU Lille, Department of Biostatistics, Lille (France); Garabedian, C.; Debarge, V.H. [CHRU Lille, Jeanne de Flandre Hospital, Department of Obstetrics and Gynecology, Lille (France); Sfeir, R. [CHRU Lille, Jeanne de Flandre Hospital, Department of Pediatric Surgery, Reference Center for Congenital Anomalies of the Esophagus, Lille (France)

    2014-10-11

    Present challenges are to improve the diagnosis rate of oesophageal atresia (OA) and evaluate as completely as possible a fetus affected by OA, specifically the type of OA and the length of the gap. Our aim was to evaluate the accuracy of fetal MR imaging (fMRI) for diagnosis of OA. We reviewed fMRI performed because of sonographic suspicion of an OA. The signs reviewed included stomach size, ''pouch sign'', bowing of the trachea and visualization of the lower oesophageal lumen. The fetuses were assigned by consensus as having or not having EA, as well as having a tracheaoesophageal fistula (TOF). All findings were correlated with postnatal data. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated. Se, Sp, PPV and NPV of the technique were respectively 91 %, 100 %, 100 % and 88 %. The presence of the pouch sign yielded corresponding values of 82 %, 100 %, 100 % and 78 %. Mid-tracheal bowing was correlated positively with EA. The type of atresia was correctly evaluated in 90 % of patients. fMRI is useful for the diagnosis of EA through the visualization of the oesophageal pouch or through associated signs such as tracheal bowing. Visualization of the lower oesophageal lumen seems to be a good sign of TEF. (orig.)

  5. Multidetector computed tomography hepatic findings in children with end-stage biliary atresia

    Energy Technology Data Exchange (ETDEWEB)

    Caruso, Settimo; Miraglia, Roberto; Milazzo, Mariapina; Maruzzelli, Luigi; Pasta, Armando; Luca, Angelo [Istituto Mediterraneo Trapianti e Terapie ad Alta Specializzazione (IsMeTT), Department of Radiology, Palermo (Italy); Spada, Marco; Gridelli, Bruno [Istituto Mediterraneo Trapianti e Terapie ad Alta Specializzazione (IsMeTT), Department of Transplantation Surgery, Palermo (Italy); Riva, Silvia [Istituto Mediterraneo Trapianti e Terapie ad Alta Specializzazione (IsMeTT), Department of Medicine, Pediatric Hepatology, Palermo (Italy)

    2010-06-15

    To illustrate the multidetector computed tomography (MDCT) findings in patients with end-stage biliary atresia (BA). The study group consists of 45 consecutive patients with BA who underwent MDCT before liver transplantation from February 2005 to February 2008. Mean age was 36 months, 24 patients were female, and 22 had undergone a previous Kasai procedure. MDCT detected a total of 15 hepatocellular nodules in 7 patients. Intrahepatic biliary cysts were detected in 14 patients and were significantly associated with a Kasai procedure. Intrahepatic porto-systemic shunts were found in 14 patients (31%), intrahepatic communicating vessels between hepatic veins were found in 24 patients (53%). Anatomical variants of hepatic artery were detected in 21 patients. Seven patients (15%) had portal vein thrombosis; in 12 cases (26%) portal vein diameter was 3 mm or less. MDCT can provide accurate morphological and vascular assessment of patients with end-stage biliary atresia and should be used for precise surgical planning. To the best of our knowledge this is one of the first studies to show the presence of numerous veno-venous communications in BA. (orig.)

  6. Subdural hemorrhage: A unique case involving secondary vitamin K deficiency bleeding due to biliary atresia.

    Science.gov (United States)

    Miyao, Masashi; Abiru, Hitoshi; Ozeki, Munetaka; Kotani, Hirokazu; Tsuruyama, Tatsuaki; Kobayashi, Naho; Omae, Tadaki; Osamura, Toshio; Tamaki, Keiji

    2012-09-10

    Extrahepatic biliary atresia (EHBA) is a rare disease characterized by progressive and obliterative cholangiopathy in infants and is one of the major causes of secondary vitamin K deficiency bleeding (VKDB) due to cholestasis-induced fat malabsorption. Breast feeding increases the tendency of bleeding in EHBA patients because breast milk contains low amounts of vitamin K. A 2-month-old female infant unexpectedly died, with symptoms of vomiting and jaundice prior to death. She had been born by uncomplicated vaginal delivery and exhibited normal growth and development with breastfeeding. There was no history of trauma. She received vitamin K prophylaxis orally. In an emergency hospital, a CT scan showed a right intracranial hematoma and mass effect with midline shift to the left. In the postmortem examination, severe atresia was observed in the whole extrahepatic bile duct. Histologically, cholestasis, periductal fibrosis, and distorted bile ductules were noted. The gallbladder was not identified. A subdural hematoma and cerebellar tonsillar herniation were found; however, no traumatic injury in any part of the body was observed. Together, these findings suggest that the subdural hemorrhage was caused by secondary vitamin K deficiency resulting from a combination of cholestasis-induced fat malabsorption and breastfeeding. Subdural hemorrhage by secondary VKDB sometimes occurs even when vitamin K prophylaxis is continued. This case demonstrated that intrinsic factors, such as secondary VKDB (e.g., EHBA, neonatal hepatitis, chronic diarrhea), should also be considered in infant autopsy cases presenting with subdural hemorrhage. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  7. Adults with corrected oesophageal atresia: is oesophageal function associated with complaints and/or quality of life?

    NARCIS (Netherlands)

    Deurloo, J.A.; Klinkenberg, E.C.; Ekkelkamp, S.; Heij, H.A.; Aronson, D.C.

    2008-01-01

    The aim of this study was to evaluate oesophageal function after correction of oesophageal atresia in adults, and to investigate the association between complaints, oesophageal function and quality of life (QoL). Twenty-five adults were included who participated in previous follow-up studies, during

  8. Successful one stage biventricular correction of aortic atresia with a ventricular septal defect and discordant ventriculo-arterial connections

    NARCIS (Netherlands)

    Ebels, T; Dapper, F; Bohle, RM; Hagel, KJ; Nikkels, PGJ; Hehrlein, FW

    1997-01-01

    Aortic atresia is rare in the setting of a normally developed left ventricle with a ventricular septal defect. In this combination, as far as we know, it has been described only with concordant ventriculo-arterial connections, for which seven one-stage biventricular repairs have now been described.

  9. Histologic features of the portal plate in extrahepatic biliary atresia and their impact on prognosis--a Danish study

    DEFF Research Database (Denmark)

    Mirza, Qazaz; Kvist, Nina; Petersen, Bodil Laub

    2009-01-01

    with regard to the number of bile ducts, the maximal length measurable in any direction for bile duct structures, and the proliferation, but not for any type of diameter. The normal portal plate was different from the portal plate of children with biliary atresia by always having 2 large biliary structures...

  10. Inferior vena cava atresia predisposing to acute lower extremity deep vein thrombosis in children: A descriptive dual-center study.

    Science.gov (United States)

    Tarango, Cristina; Kumar, Riten; Patel, Manish; Blackmore, Anne; Warren, Patrick; Palumbo, Joseph S

    2018-02-01

    Thrombosis in the healthy pediatric population is a rare occurrence. Little is known about the optimal treatment or outcomes of children with unprovoked acute lower extremity (LE) deep vein thrombosis (DVT) associated with atresia of the inferior vena cava (IVC). We retrospectively analyzed the records of patients with acute LE DVT subsequently found to have IVC atresia who presented to two tertiary pediatric institutions between 2008 and 2016. Data were reviewed for thrombophilia risk factors, treatment, and outcomes. Eighteen patients, aged 13-18 years (median: 16 years), presenting with acute LE DVT were found to have IVC atresia. Three patients also presented with pulmonary embolism. Fourteen patients underwent site-directed thrombolysis in addition to anticoagulation. Five patients (28%) had confirmed or suspected recurrent thrombosis. Thirteen patients (72%) had no identified provocation for DVT. Ten patients (56%) had post-thrombotic syndrome, and 17 of 18 patients remain on indefinite anticoagulation. This study suggests that IVC atresia is a risk factor for LE DVT and pulmonary embolism in otherwise healthy children and highlights the importance of dedicated imaging of the IVC in young patients with unprovoked LE DVT. Indefinite anticoagulation may be considered in pediatric patients presenting with unprovoked thrombosis secondary to an atretic IVC. © 2017 Wiley Periodicals, Inc.

  11. Radiological Findings in a Case of Multiple Focal Nodular Hyperplasia Associated with Portal Vein Atresia and Portopulmonary Hypertension

    Energy Technology Data Exchange (ETDEWEB)

    Lee, In Joon; Jeong, Sook Hyang; Choi, Jin Woo; Park, Hee Sun; Lee, Kyoung Ho; Kim, Hae Ryoung [Seoul National University Bundang Hospital, Seoul (Korea, Republic of)

    2008-08-15

    We present here the radiological findings of a rare case of multiple focal nodular hyperplasia that was associated with portal vein atresia and portopulmonary hypertension in a young woman. This case illustrates and supports the pathophysiological hypotheses that were previously proposed for the coexistence of these three abnormalities

  12. Prevalence of Renal and Cervical Vertebral Anomalies in Patients With Isolated Microtia and/or Aural Atresia.

    Science.gov (United States)

    Zim, Shane; Lee, Janet; Rubinstein, Brian; Senders, Craig

    2017-11-01

      The objective of this study was to determine whether patients with isolated microtia or aural atresia have an increased prevalence of renal or cervical vertebral anomalies.   The study design was a retrospective medical record review.   The setting was the following four distinct institutions: an urban tertiary care children's hospital, two urban academic medical centers, and a staff-model health maintenance organization.   Patients diagnosed with microtia, aural atresia, or oculoauriculovertebral spectrum were identified. Patients with facial asymmetry, craniofacial microsomia, and other craniofacial abnormalities or syndromes were excluded.   Main outcome measures were the number of patients with isolated microtia or aural atresia who underwent a renal ultrasound or cervical spine X-ray, the results of those studies, and further evaluation or treatment for any abnormalities found.   A binomial analysis using a one-sided 95% confidence level was performed.   A total of 514 patients with isolated microtia and/or aural atresia were identified. Of these patients, 145 (28%) had undergone a renal ultrasound and 81 (16%) had undergone cervical spine X-rays. A total of 3 patients (2%) had minimal renal pelviectasis, all of which had resolved on repeat ultrasound and required no treatment. There were no structural renal abnormalities identified, and there were no cervical spine abnormalities identified.   The data suggest that there is no increased prevalence of structural renal or cervical vertebral anomalies in patients with isolated microtia and/or aural atresia. Therefore, these patients do not require routine screening renal ultrasound or cervical spine X-rays.

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

    Directory of Open Access Journals (Sweden)

    Agulleiro María J

    2009-09-01

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

  14. Diagnosis of intestinal and extra intestinal amoebiasis

    International Nuclear Information System (INIS)

    Lopez, Myriam Consuelo; Quiroz, Damian Arnoldo; Pinilla, Analida Elizabeth

    2007-01-01

    The objective is to carry out a review of the national and international literature as of the XXth century in order to update the advances for the diagnosis of complex odd Entamoeba histolytic / Entamoeba dispar and that of intestinal and extra intestinal amoebiasis that may be of use to the scientific community. As well as to unify the diagnostic criteria of this parasitosis known as a public health problem, and as a consequence of that, optimize the quality of population care. Data source: there was a systematic search for the scientific literature Publisher in Spanish and English since 1960 until today, this selection started on the first semester of 2006 until 2007, in the development of the line on intestinal and extra-intestinal amoebiasis of the Medical School of the National University of Colombia. A retrospective search process was carried out, systematically reviewing the most relevant articles as well as the products of this research line. In deciding how to make this article, there was a continuous search in different data bases such as Medline, SciELO and other bases in the library of the National University of Colombia, as well as other classical books related to the subject. For that purpose the terms amoebiasis, odd Entamoeba histolytic, Entamoeba, diagnosis, epidemiology, dysentery, amoebic liver abscess, were used. Studies selection: titles and abstracts were reviewed to select the original publications and the most representative ones related to this article's subject. Data extraction: the articles were classified according to the subject, the chronology and the authors according to the scientific contribution to solve the problem. Synthesis of the data: in the fi rst instance, a chronological critical analysis was carried out to order and synthesize the progress made in the diagnosis until confirmation of the experts' agreements in the field of amoebiasis was obtained throughout the world. Conclusion: this article summarizes what has taken place

  15. Intestinal anisakidosis (anisakiosis).

    Science.gov (United States)

    Takei, Hidehiro; Powell, Suzanne Z

    2007-10-01

    A case of intestinal anisakidosis in a 42-year-old man in Japan is presented. His chief complaint was an acute onset of severe abdominal pain. Approximately 12 hours before the onset of this symptom, he had eaten sliced raw mackerel ("sashimi"). Upper endoscopy was unremarkable. At exploratory laparotomy, an edematous, diffusely thickened segment of jejunum was observed, which was resected. The postoperative course was uneventful. The segment of small intestine showed a granular indurated area on the mucosal surface, and microscopically, a helminthic larva penetrating the intestinal wall, which was surrounded by a cuff of numerous neutrophils and eosinophils, as well as diffuse acute serositis. A cross section of the larva revealed the internal structures, pathognomonic of Anisakis simplex. Although anisakidosis is rare in the United States, with the increasing popularity of Japanese cuisine, the incidence is expected to increase, and pathologists should be familiar with this disease.

  16. Intestinal failure: a review

    Science.gov (United States)

    Allan, Philip; Lal, Simon

    2018-01-01

    Intestinal failure (IF) is the inability of the gut to absorb necessary water, macronutrients (carbohydrate, protein, and fat), micronutrients, and electrolytes sufficient to sustain life and requiring intravenous supplementation or replacement. Acute IF (types 1 and 2) is the initial phase of the illness and may last for weeks to a few months, and chronic IF (type 3) from months to years. The challenge of caring for patients with IF is not merely the management of the underlying condition leading to IF or the correct provision of appropriate nutrition or both but also the prevention of complications, whether thromboembolic phenomenon (for example, venous occlusion), central venous catheter-related bloodstream infection, IF-associated liver disease, or metabolic bone disease. This review looks at recent questions regarding chronic IF (type 3), its diagnosis and management, the role of the multidisciplinary team, and novel therapies, including hormonal treatment for short bowel syndrome but also surgical options for intestinal lengthening and intestinal transplant. PMID:29399329

  17. Small intestine diverticuli

    International Nuclear Information System (INIS)

    Pomakov, P.; Risov, A.

    1991-01-01

    The routine method of contrast matter passage applied to 850 patients with different gastrointestinal diseases proved inefficient to detect any small-intestinal diverticuli. The following modiffications of the method have been tested in order to improve the diagnostic possibilities of the X-ray: study at short intervals, assisted passage, enteroclysm, pharmacodynamic impact, retrograde filling of the ileum by irrigoscopy. Twelve diverticuli of the small-intestinal loops were identified: 5 Meckel's diverticuli, 2 solitary of which one of the therminal ileum, 2 double diverticuli and 1 multiple diverticulosis of the jejunum. The results show that the short interval X-ray examination of the small intestines is the method of choice for identifying local changes in them. The solitary diverticuli are not casuistic scarcity, its occurrence is about 0.5% at purposeful X-ray investigation. The assisted passage method is proposed as a method of choice for detection of the Meckel's diverticulum. 5 figs., 3 tabs. 18 refs

  18. Small Intestinal Infections.

    Science.gov (United States)

    Munot, Khushboo; Kotler, Donald P

    2016-06-01

    Small intestinal infections are extremely common worldwide. They may be bacterial, viral, or parasitic in etiology. Most are foodborne or waterborne, with specific etiologies differing by region and with diverse pathophysiologies. Very young, very old, and immune-deficient individuals are the most vulnerable to morbidity or mortality from small intestinal infections. There have been significant advances in diagnostic sophistication with the development and early application of molecular diagnostic assays, though these tests have not become mainstream. The lack of rapid diagnoses combined with the self-limited nature of small intestinal infections has hampered the development of specific and effective treatments other than oral rehydration. Antibiotics are not indicated in the absence of an etiologic diagnosis, and not at all in the case of some infections.

  19. The intestinal calcistat

    Directory of Open Access Journals (Sweden)

    M K Garg

    2013-01-01

    Full Text Available The main physiological function of vitamin D is maintenance of calcium homeostasis by its effect on calcium absorption, and bone health in association with parathyroid gland. Vitamin D deficiency (VDD is defined as serum 25-hydroxy vitamin D (25OHD levels <20 ng/ml. Do all subjects with VDD have clinical disease according to this definition? We hypothesize that there exist an intestinal calcistat, which controls the calcium absorption independent of PTH levels. It consists of calcium sensing receptor (CaSR on intestinal brush border, which senses calcium in intestinal cells and vitamin D system in intestinal cells. CaSR dampens the generation of active vitamin D metabolite in intestinal cells and decrease active transcellular calcium transport. It also facilitates passive paracellular diffusion of calcium in intestine. This local adaptation adjusts the fractional calcium absorption according the body requirement. Failure of local adaptation due to decreased calcium intake, decreased supply of 25OHD, mutation in CaSR or vitamin D system decreases systemic calcium levels and systemic adaptations comes into the play. Systemic adaptations consist of rise in PTH and increase in active vitamin D metabolites. These adaptations lead to bone resorption and maintenance of calcium homeostasis. Not all subjects with varying levels of VDD manifest with secondary hyperparathyroidism and decreased in bone mineral density. We suggest that rise in PTH is first indicator of VDD along with decrease in BMD depending on duration of VDD. Hence, subjects with any degree of VDD with normal PTH and BMD should not be labeled as vitamin D deficient. These subjects can be called subclinical VDD, and further studies are required to assess beneficial effect of vitamin D supplementation in this subset of population.

  20. Radiological aspects of bronchial atresia: report of three cases and review of the literature

    International Nuclear Information System (INIS)

    Neu, Alexandre da Silva; Menezes, Roger Eliandro; Maciel, Antonio Carlos; Castro, Rogerio Fernandes Peixoto de

    2003-01-01

    Bronchial atresia is a rare congenital abnormality that usually shows a juxta-hilar mass with distal radiolucency on conventional x-ray films. Most patients are young and have no symptoms. Computed tomography usually confirms the diagnosis, allowing conservative management of the asymptomatic cases. The authors report three cases of bronchial obstruction. One of the patients was of particular importance and interest, a 45-year-old female patient with symptoms of respiratory infection, due to the association with a bulky bronchocele. The diagnosis was made by analyzing the findings of conventional x-ray films and computed tomography, and the comparison with previous conventional x-ray films and linear tomography, which had already demonstrated abnormalities. A literature review on the clinical and radiological findings of this pulmonary malformation is presented. (author)

  1. Intrahepatic biliary cysts after hepatic portoenterostomy in four children with biliary atresia

    International Nuclear Information System (INIS)

    Ishii, K.; Matsuo, S.; Hirayama, Y.; Taguchi, T.; Yakabe, S.; Ikeda, K.; Hirata, T.; Kawanami, T.

    1989-01-01

    We report our experience with 4 cases of cystic dilatation of intrahepatic bile ducts following hepatic portoenterostomy for biliary atresia. Two of the cases did not achieve satisfactory bile excretion and all four cases developed recurrent cholangitis after hepatic portoenterostomy. The attacks of cholangitis seemed to be associated with the presence of intrahepatic cysts. Although one case resulted in death from hepatic failure, three other cases are now outpatients. Patients who develop recurrent cholangitis following hepatic portoenterostomy, should be examined to exclude the presence of intrahepatic biliary cysts. Ultrasonography, computed tomography and percutaneous transhepatic cholangiography were all effective in detecting cysts and provided valuable information for planning treatment. Percutaneous transhepatic or surgical drainage of the bile ducts was effective in reducing jaundice, and recurrent cholangitis. (orig.)

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

    Science.gov (United States)

    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.

  3. The Multifactorial Origin of Respiratory Morbidity in Patients Surviving Neonatal Repair of Esophageal Atresia

    Science.gov (United States)

    Fragoso, Ana Catarina; Tovar, Juan A.

    2014-01-01

    Esophageal atresia with or without tracheoesophageal fistula (EA ± TEF) occurs in 1 out of every 3000 births. Current survival approaches 95%, and research is therefore focused on morbidity and health-related quality of life issues. Up to 50% of neonates with EA ± TEF have one or more additional malformations including those of the respiratory tract that occur in a relatively high proportion of them and particularly of those with vertebral, anal, cardiac, tracheoesophageal, renal, and limb association. Additionally, a significant proportion of survivors suffer abnormal pulmonary function and chronic respiratory tract disease. The present review summarizes the current knowledge about the nature of these symptoms in patients treated for EA ± TEF, and explores the hypothesis that disturbed development and maturation of the respiratory tract could contribute to their pathogenesis. PMID:24829898

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

    Science.gov (United States)

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

    2013-01-01

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

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

    Science.gov (United States)

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

    2016-12-01

    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.

  6. Right Ventricle-dependent Coronary Circulation in Pulmonary Atresia with Intact Ventricular Septum: A Case Report

    Directory of Open Access Journals (Sweden)

    Meng-Hsun Lee

    2005-05-01

    Full Text Available Pulmonary atresia with intact ventricular septum (PAIVS is a morphologically heterogeneous lesion and accounts for 1-3% of critically ill infants with congenital heart disease. Numerous surgical approaches have been attempted with varying degrees of success, but the mortality rate is still high in most series. The optimal surgical procedure depends on the size and morphology of the tricuspid valve and right ventricle and the presence or absence of right ventricle-dependent coronary circulation. Therefore, it is pivotal to define the precise morphologic and hemodynamic characteristics, especially coronary artery anatomy. In this report, we describe a full-term female neonate with cyanosis soon after birth. Two-dimensional and color Doppler echocardiography corroborated the diagnosis of PAIVS and showed a small right ventricle. Cardiac catheterization indicated PAIVS and further revealed right ventricle-dependent coronary circulation. A systemic-to-pulmonary artery shunt was constructed with a positive immediate result.

  7. Treatment and Outcome for Children with Esophageal Atresia from a Gender Perspective

    Science.gov (United States)

    Ekselius, Julia

    2017-01-01

    Background Besides the incidence of esophageal atresia (EA) being higher in males, no other gender-specific differences in EA have been reported. The aim of this study was to search for gender-specific differences in EA. Methods A retrospective study was conducted at a tertiary center for pediatric surgery. The medical charts of infants born with EA were reviewed. 20 girls were identified, and 20 boys were selected as matched controls with respect to concomitant malformations. Their treatment and outcome were evaluated. Results Polyhydramnios was more common in pregnancies with boys, 40%, versus girls, 10%, with EA (p Polyhydramnios appears to be more frequent in pregnancies with boys than girls with EA. In this study, boys have longer stays than girls at the pediatric surgery ward. PMID:29201998

  8. Incidental Finding of Inferior Vena Cava Atresia Presenting with Deep Venous Thrombosis following Physical Exertion

    Directory of Open Access Journals (Sweden)

    Shalini Koppisetty

    2015-01-01

    Full Text Available Inferior vena cava atresia (IVCA is a rare but well described vascular anomaly. It is a rare risk factor for deep venous thrombosis (DVT, found in approximately 5% of cases of unprovoked lower extremity (LE DVT in patients <30 years of age. Affected population is in the early thirties, predominantly male, often with a history of major physical exertion and presents with extensive or bilateral DVTs. Patients with IVC anomalies usually develop compensatory circulation through the collateral veins with enlarged azygous/hemizygous veins. Despite the compensatory circulation, the venous drainage of the lower limbs is often insufficient leading to venous stasis and thrombosis. We describe a case of extensive and bilateral deep venous thrombosis following physical exertion in a thirty-six-year-old male patient with incidental finding of IVCA on imaging.

  9. Intestinal microbiota and ulcerative colitis.

    Science.gov (United States)

    Ohkusa, Toshifumi; Koido, Shigeo

    2015-11-01

    There is a close relationship between the human host and the intestinal microbiota, which is an assortment of microorganisms, protecting the intestine against colonization by exogenous pathogens. Moreover, the intestinal microbiota play a critical role in providing nutrition and the modulation of host immune homeostasis. Recent reports indicate that some strains of intestinal bacteria are responsible for intestinal ulceration and chronic inflammation in inflammatory bowel diseases (IBD) such as ulcerative colitis (UC) and Crohn's disease (CD). Understanding the interaction of the intestinal microbiota with pathogens and the human host might provide new strategies treating patients with IBD. This review focuses on the important role that the intestinal microbiota plays in maintaining innate immunity in the pathogenesis and etiology of UC and discusses new antibiotic therapies targeting the intestinal microbiota. Copyright © 2015 Japanese Society of Chemotherapy and The Japanese Association for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  10. Small intestine aspirate and culture

    Science.gov (United States)

    ... ency/article/003731.htm Small intestine aspirate and culture To use the sharing features on this page, please enable JavaScript. Small intestine aspirate and culture is a lab test to check for infection ...

  11. Silencing of the rotavirus NSP4 protein decreases the incidence of biliary atresia in murine model.

    Directory of Open Access Journals (Sweden)

    Jiexiong Feng

    Full Text Available Biliary atresia is a common disease in neonates which causes obstructive jaundice and progressive hepatic fibrosis. Our previous studies indicate that rotavirus infection is an initiator in the pathogenesis of experimental biliary atresia (BA through the induction of increased nuclear factor-kappaB and abnormal activation of the osteopontin inflammation pathway. In the setting of rotavirus infection, rotavirus nonstructural protein 4 (NSP4 serves as an important immunogen, viral protein 7 (VP7 is necessary in rotavirus maturity and viral protein 4 (VP4 is a virulence determiner. The purpose of the current study is to clarify the roles of NSP4, VP7 and VP4 in the pathogenesis of experimental BA. Primary cultured extrahepatic biliary epithelia were infected with Rotavirus (mmu18006. Small interfering RNA targeting NSP4, VP7 or VP4 was transfected before rotavirus infection both in vitro and in vivo. We analyzed the incidence of BA, morphological change, morphogenesis of viral particles and viral mRNA and protein expression. The in vitro experiments showed NSP4 silencing decreased the levels of VP7 and VP4, reduced viral particles and decreased cytopathic effect. NSP4-positive cells had strongly positive expression of integrin subunit α2. Silencing of VP7 or VP4 partially decreased epithelial injury. Animal experiments indicated after NSP4 silencing, mouse pups had lower incidence of BA than after VP7 or VP4 silencing. However, 33.3% of VP4-silenced pups (N = 6 suffered BA and 50% of pups (N = 6 suffered biliary injury after VP7 silencing. Hepatic injury was decreased after NSP4 or VP4 silencing. Neither VP4 nor VP7 were detected in the biliary ducts after NSP4. All together, NSP4 silencing down-regulates VP7 and VP4, resulting in decreased incidence of BA.

  12. Esophageal atresia: Factors influencing survival - Experience at an Indian tertiary centre

    Directory of Open Access Journals (Sweden)

    Tandon R

    2008-01-01

    Full Text Available Objective: To study the clinical profile of the cases of esophageal atresia (EA and/or tracheoesophageal fistula (TEF and various factors affecting the surgical and early postoperative management and their outcome. Materials and Methods: A prospective analysis of 127 cases of EA from February 2004 to May 2006 was performed. Waterston prognostic criteria were used for grading. Results: EA with TEF was the commonest type in 117 cases (92%. Associated congenital anomalies were present in 52 (41% patients, the commonest being the cardiac anomalies, which was followed by the gastrointestinal anomalies. VACTERL was found in 6 (5% cases. Prematurity, associated congenital anomalies, gap between esophageal ends and preoperative respiratory status were the significant factors affecting the survival ( P = < 0.001. Primary extrapleural repair was the surgical approach in most of the patients. Azygos vein was preserved in 46 cases and no retropleural drainage was used in 27 cases. Staged procedures were performed in 19 cases, including 6 cases of isolated esophageal atresia. Pneumonitis and sepsis were the most common early postoperative complications (42%. Hypoxia and cardiorespiratory arrest were the most common causes of mortality (11 cases. Anastomotic leak complicated 13 cases, including 9 major and 4 minor leaks. Major leak followed by sepsis caused 7 deaths. Survival as per Waterston criteria was 100% in group A, 83% in group B and 22% in group C. Conclusion Factors affecting the survival are major or life-threatening associated anomalies, long gap, pneumonia and sepsis at presentation or that acquired during hospitalization and major leaks. The high incidence of low birth weight, delayed diagnosis, poor referral, low-socio economic status and lack of advanced neonatological back up are important contributory factors to poor outcome.

  13. Pediatric Eating Assessment Tool-10 as an indicator to predict aspiration in children with esophageal atresia.

    Science.gov (United States)

    Soyer, Tutku; Yalcin, Sule; Arslan, Selen Serel; Demir, Numan; Tanyel, Feridun Cahit

    2017-10-01

    Airway aspiration is a common problem in children with esophageal atresia (EA). Pediatric Eating Assessment Tool-10 (pEAT-10) is a self-administered questionnaire to evaluate dysphagia symptoms in children. A prospective study was performed to evaluate the validity of pEAT-10 to predict aspiration in children with EA. Patients with EA were evaluated for age, sex, type of atresia, presence of associated anomalies, type of esophageal repair, time of definitive treatment, and the beginning of oral feeding. Penetration-aspiration score (PAS) was evaluated with videofluoroscopy (VFS) and parents were surveyed for pEAT-10, dysphagia score (DS) and functional oral intake scale (FOIS). PAS scores greater than 7 were considered as risk of aspiration. EAT-10 values greater than 3 were assessed as abnormal. Higher DS scores shows dysphagia whereas higher FOIS shows better feeding abilities. Forty patients were included. Children with PAS greater than 7 were assessed as PAS+ group, and scores less than 7 were constituted as PAS- group. Demographic features and results of surgical treatments showed no difference between groups (p>0.05). The median values of PAS, pEAT-10 and DS scores were significantly higher in PAS+ group when compared to PAS- group (ptool to predict aspiration in children. Patients with higher pEAT-10 scores should undergo detailed evaluation of deglutitive functions and assessment of risks of aspiration to improve safer feeding strategies. Level II (Development of diagnostic criteria in a consecutive series of patients and a universally applied "gold standard"). Copyright © 2017 Elsevier Inc. All rights reserved.

  14. A patient led, international study of long term outcomes of esophageal atresia: EAT 1.

    Science.gov (United States)

    Svoboda, Evelyn; Fruithof, JoAnne; Widenmann-Grolig, Anke; Slater, Graham; Armand, Frederic; Warner, Bernhard; Eaton, Simon; De Coppi, Paolo; Hannon, Edward

    2018-04-01

    Long term outcomes of esophageal atresia (OA) are poorly understood. The Federation of Esophageal Atresia and Tracheo-Esophageal Fistula support groups (EAT), a collaboration of patient support groups aimed to define patient reported long term outcomes and quality of life (QoL) in a large international cohort of OA patients. Questionnaires were designed focusing on patient/parent reported outcomes including surgical history, current symptomatology and quality of life. Members of support groups within EAT were invited to complete questionnaires electronically via SurveyMonkey®. 1100 patients from 25 countries responded to the questionnaire and 928 were analyzed. 80% had type C anatomy, 19% type A and 1% type E. Patient ages were 26%), 11-17 years (16%) and 18 years and older (16%). 49% of all patients reported previous dilatations which was similar across age groups. Reflux symptoms affected 58% of patients and persisted into adulthood. Dysphagia also persisted in the adult population with 50% reporting sometimes or often getting food stuck. Reflux was significantly more frequent in 'long gap' versus 'standard gap' patients (p<0.005). Respiratory symptoms and chest infections decreased in frequency with age. In children median SDS for height was -0.41 (IQR -1.4 to 0.67) and that for weight was -0.63 (-1.6 to 0.67). BMI in adults was 21.5. Quality of life was described as significantly affected by OA in 18% of patients while 25% reported no effect on QoL. These results highlight the significant long term morbidity suffered by OA patients as children and into adulthood and suggest the need for quality transitional care. The patient designed and reported nature of the study gives a unique perspective to the results and emphasizes the benefits of collaboration. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Surgical Outcomes in Esophageal Atresia and Tracheoesophageal Fistula: A Comparison between Primary and Delayed Repair

    Directory of Open Access Journals (Sweden)

    H Davari

    2006-01-01

    Full Text Available Background: The purpose of this study was to investigate outcomes of surgical repair of esophageal atresia (EA or tracheoesophageal fistula (TEF in newborns, with respect to incidence of death and other complications in early or late operations. Methods: Charts of all 80 infants with EA/TEF, operated in Alzahra hospital (A tertiary hospital of Isfahan University of Medical Sciences from 2002 to 2004 were reviewed. Patients were designed in two groups as, primary and delayed repair groups. Patients demographics, frequency of associated anomalies, and details of management and outcomes were studied. Results: There were 48 male and 32 female patients with a frequency of 28(35% preterm infant and mean birth weight of 2473±595 g. Overall survival rate was 71.2%. Mortality rate in delayed repair group was significantly higher than the other one (22.5% vs. 6.3% but with matching, according to full term/preterm proportion, the significant differences were failed. Female sex and being preterm were the most powerful predictors of death (nearly odds ratio=7 for both. Conclusion: in this study mortality and complications rates are higher in delayed repair than early one, although our data proposed that in absence of sever life threatening anomalies the most important factor for death is gestational age and female sex, and primary repair is opposed to it. Although mortality rate and complications are equal in two strategies, with matching cases for being preterm, but primary repair stays the better choice due to economic considerations. Keywords: tracheoesophageal fistula, esophageal atresia, delayed repair, primary repair, outcome

  16. Laparoscopic finding of a hepatic subcapsular spider-like telangiectasis sign in biliary atresia.

    Science.gov (United States)

    Zhou, Ying; Jiang, Meng; Tang, Shao-Tao; Yang, Li; Zhang, Xi; Yang, De-Hua; Xiong, Meng; Li, Shuai; Cao, Guo-Qing; Wang, Yong

    2017-10-21

    To assess the diagnostic value of a laparoscopic finding of a hepatic subcapsular spider-like telangiectasis (HSST) sign in biliary atresia. A retrospective study was conducted first and then a validation set was used to investigate the value of an HSST sign in predicting biliary atresia (BA). In the retrospective study, laparoscopic images of the liver surface were reviewed in 126 patients with infantile cholestasis (72 BA patients and 54 non-BA cholestasis patients) and a control group of 38 patients with non-hepatic conditions. Analysis was first made by two observers separately and finally, a consensus conclusion was achieved. Then, the diagnostic value of the HSST sign was validated in an independent cohort including 45 BA and 45 non-BA patients. In the retrospective investigation, an amplified HSST sign was found in all BA patients, while we were unable to detect the HSST sign in 98.1% of the 54 non-BA patients. There was no HSST sign in any of the control subjects. In the first review, the sensitivity and specificity from one reviewer were 100% and 98.1%, respectively, and the results from the other reviewer were both 100%. The consensus sensitivity and specificity were 100% and 98.1%, respectively. The HSST sign was defined as being composed of several enlarged tortuous spider-like vascular plexuses with two to eight branches distributed on all over the liver surface, which presented as either a concentrated type or a dispersed type. In the independent validation group, the sensitivity, specificity, positive predictive value and negative predictive value of the HSST sign were 100%, 97.8%, 97.8% and 100%, respectively. The HSST sign is characteristic in BA, and laparoscopic exploration for the HSST sign is valuable in the diagnosis of BA.

  17. Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features

    Energy Technology Data Exchange (ETDEWEB)

    Yoo, Hye Jin; Kim, Woo Sun; Cheon, Jung-Eun; Shin, Su-Mi; Kim, In-One; Yeon, Kyung Mo [Seoul National University College of Medicine and the Institute of Radiation Medicine, Department of Radiology, Seoul (Korea); Yoo, So-Young [Seoul National University College of Medicine and the Institute of Radiation Medicine, Department of Radiology, Seoul (Korea); Sungkyunkwan University School of Medicine, Department of Radiology and Center for Imaging Science, Samsung Medical Center, Seoul (Korea); Park, Kwi-Won; Jung, Sung-Eun [Seoul National University Children' s Hospital, Department of Pediatric Surgery, Seoul (Korea)

    2010-08-15

    Congenital esophageal stenosis (CES) can be associated with esophageal atresia/tracheoesophageal fistula (EA/TEF). Because there are a variety of degrees of obstruction and symptoms of CES, it is frequently difficult to make a pre- and post-operative diagnosis of the distal CES associated with EA/TEF. To evaluate the clinical and radiologic features of congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula. We retrospectively reviewed postoperative esophagograms and medical records of 187 children (107 boys, 80 girls) who had primary repair of EA/TEF from 1992 to 2009 at our institution. We evaluated the incidence of CES, clinical findings, radiologic features and management of CES in these children. CES was diagnosed in 22 of 187 EA/TEF children (12%); one child had double CES lesions, for a total of 23 lesions. Ten of those 22 children (45%) had presented with significant symptoms of esophageal obstruction. The diagnosis of CES was delayed in 10 children (45%) until 1-10 years of age. On esophagogram, CES (n = 23) was located in the distal esophagus (n = 20, 87%) or mid-esophagus (n = 3, 13%). The degree of stenosis was severe (n = 6, 26%), moderate (n = 10, 43%), or mild (n = 7, 30%). Eight children, including two with unsuccessful esophageal balloon dilatation of CES, were treated surgically. Histologic examination revealed tracheobronchial remnant (n = 7) or fibromuscular hyperplasia (n = 1). One child with surgically treated CES developed achalasia at the age of 3 years 9 months. Esophagography after EA/TEF repair should be performed with a high index of suspicion for the presence of distal CES, because the diagnosis and adequate management of CES can often be delayed. (orig.)

  18. Major Aortopulmonary Collateral Arteries With Anatomy Other Than Pulmonary Atresia/Ventricular Septal Defect.

    Science.gov (United States)

    Patrick, William L; Mainwaring, Richard D; Reinhartz, Olaf; Punn, Rajesh; Tacy, Theresa; Hanley, Frank L

    2017-09-01

    Major aortopulmonary collateral arteries (MAPCAs) are frequently found in association with pulmonary atresia with ventricular septal defect (PA/VSD). However, some patients with MAPCAs do not have PA/VSD but have a variety of other "atypical" anatomic diagnoses. This was a retrospective review of patients with MAPCAs and atypical anatomy. The 50 patients with MAPCAs could be divided into two subgroups: (1) single ventricle anatomy (n = 33) and (2) two ventricle anatomy (n = 17). The 33 patients with MAPCAs and single ventricle included 15 with unbalanced complete atrioventricular canal (CAVC), 6 with pulmonary atresia-intact ventricular septum, and 12 with other forms of single ventricle. The initial cardiac operation included unifocalization/shunt in 24 patients and creation of aortopulmonary window or central shunt in 9 patients. There were seven operative and eight late deaths. Sixteen patients have had a bidirectional Glenn procedure and 6 had a Fontan procedure. The 17 patients with MAPCAs and two ventricles included 5 with CAVC, 4 with corrected transposition, 3 with double outlet right ventricle, 3 with scimitar syndrome, and 2 with complex D-transposition. The initial cardiac operation included single-stage complete repair in 5 patients, unifocalization/shunt in 10 patients, and aortopulmonary window in 2 patients. There were two operative and two late deaths. Thirteen patients have achieved complete repair status. The data demonstrate the wide diversity of anatomy seen in patients with MAPCAs when evaluating diagnoses other than PA/VSD. Two-thirds of the patients had single ventricle and was associated with a relatively high mortality. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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 (Patresia 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.

  20. Neonatal functional intestinal obstruction and the presence of severely immature ganglion cells on rectal biopsy: 6 year experience.

    Science.gov (United States)

    Burki, Tariq; Kiho, Liina; Scheimberg, Irene; Phelps, Simon; Misra, Devesh; Ward, Harry; Colmenero, Isabel

    2011-05-01

    We report our experience of managing eight babies who presented with neonatal intestinal obstruction and whose rectal biopsies showed severely immature ganglion cells. Neonatal unit records were reviewed to detect patients with suspected Hirschsprung's disease or functional intestinal obstruction. Those with intestinal atresia, anorectal malformation, malrotation, cystic fibrosis and prematurity were excluded. We identified 73 patients born at term. Twenty-seven did not need a rectal biopsy. Twenty-one had biopsy proven Hirschsprung's disease, while 17 had a normal rectal biopsy. Eight patients, all of whom presented with severe abdominal distension, showed immature ganglion cells. Seven had failed to pass meconium after birth. X-rays in all patients showed distended loops of bowel. Two neonates underwent an emergency laparotomy and a stoma. A repeat biopsy at 3 months showed maturation of ganglion cells and the stoma was reversed. Rectal biopsy was repeated in two other patients 2-9 months after the first biopsy and showed mature ganglion cells. At follow-up, one patient still suffers from severe constipation. Seven are asymptomatic now, including the two patients who needed a stoma. Immature ganglion cells on rectal biopsy may be an indicator of transient functional immaturity of the intestine.

  1. Stages of Small Intestine Cancer

    Science.gov (United States)

    ... all of an organ that contains cancer. The resection may include the small intestine and nearby organs (if the cancer has spread). The doctor may remove the section of the small intestine that contains cancer and perform an anastomosis (joining the cut ends of the intestine together). ...

  2. Pulmonary atresia

    Science.gov (United States)

    ... single ventricle (1 pumping chamber instead of 2) Heart transplant Outlook (Prognosis) Most cases can be helped with ... accountability. A.D.A.M. is among the first to achieve this important distinction for online health ...

  3. Choanal atresia

    Science.gov (United States)

    ... infant can learn to mouth breathe, which can delay the need for immediate surgery. Surgery to remove ... urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows ...

  4. Biliary Atresia

    Science.gov (United States)

    ... Kidney Disease Weight Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información ... Kidney Disease Weight Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información ...

  5. Intestinal inflammatory myofibroblastic tumour

    African Journals Online (AJOL)

    abdominal X-ray of patients 1, 3 and 4 demonstrated dilated small bowel loops with fluid levels in keeping with intestinal ... myxoid/vascular pattern characterised by a variable admixture of capillary-calibre blood vessels, .... in the present study had a past history of abdominal trauma or surgery. Ancillary histopathological ...

  6. Small intestine and microbiota.

    Science.gov (United States)

    Cotter, Paul D

    2011-03-01

    To highlight the recent studies which have enhanced our appreciation of the composition of the microbiota in the human small intestine and its relevance to the health of the host. In the past number of years, the composition of the microorganisms present in our small intestines has been the subject of greater scrutiny than ever before. These investigations have been possible as a consequence of the development and utilization of new molecular tools which have revolutionized the field of microbial ecology and have focused predominantly on the small intestinal microbiota associated with pediatric celiac disease, inflammatory bowel disease, irritable bowel syndrome and pouchitis. The impact of invasive procedures, such as small bowel transplant, ileostomy and ileal pouch anal anastomosis, on the ileal microbiota has also been investigated. The ever greater appreciation of the link between the small intestinal microbiota and the health status of the host has the potential to lead to the development of new strategies to alter this microbiota in a targeted way to prevent or treat specific disorders.

  7. Intestinal obstruction repair

    Science.gov (United States)

    ... Ileostomy and your diet Ileostomy - caring for your stoma Ileostomy - changing your pouch Ileostomy - discharge Ileostomy - what to ask your doctor Intestinal or bowel obstruction - discharge Low-fiber diet Surgical wound care - open Types of ileostomy When you have nausea ...

  8. adhesive intestinal obstruction

    African Journals Online (AJOL)

    2006-06-01

    Jun 1, 2006 ... obstruction. Brit. I. Surg. 1998; 85: 1071-1074. The acute abdomen: Intestinal obstruction. In: Primary surgery, Vol. 1. Edited by Maurice King et al. Oxford. Med. PubL, Oxford. 1990; 142-169. Fluids and electrolyte management. In: Essentials of pediatric surgery. Edited by Marc Rowe et al. Mosby,. St. Louis ...

  9. Intestinal Complications of IBD

    Science.gov (United States)

    ... localized pocket of pus caused by infection from bacteria. More common in Crohn’s than in colitis, an abscess may form in the intestinal wall—sometimes causing it to bulge out. Visible abscesses, such as those around the anus, look like boils and treatment often involves lancing. Symptoms of ...

  10. Intestinal failure in childhood

    African Journals Online (AJOL)

    Short bowel syndrome (SBS) was one of the first recognised conditions of protracted IF. With the increasing and successful use of long-term PN during the last three decades, several other causes of IF have emerged. Long-term PN and home-PN are the mainstay of therapy, independent of the nature of “Intestinal failure” ...

  11. Síndrome de Treacher Collins com atresia coanal: relato de caso e revisão de suas características Treacher Collins syndrome with choanal atresia: a case report and review of disease features

    Directory of Open Access Journals (Sweden)

    Eduardo C. Andrade

    2005-02-01

    Full Text Available A Síndrome de Treacher Collins ou disostose mandibulofacial apresenta-se com deformidades crânio-faciais, tendo expressão e severidade variável. É uma malformação congênita que envolve o primeiro e segundo arcos branquiais. A Síndrome de Treacher Collins é rara e sua incidência está estimada em uma faixa de 1:40000 a 1:70000 nascidos vivos. Esta síndrome é caracterizada por anormalidades dos pavilhões auriculares, hipoplasia dos ossos da face, obliqüidade antimongolóide das fendas palpebrais com coloboma palpebral inferior e fissura palatina. A Síndrome de Treacher Collins raramente está associada com atresia coanal. Estes pacientes são apropriadamente acompanhados por uma equipe multidisciplinar que inclui cirurgiões crânio-faciais, oftalmologistas, fonoaudiologistas, cirurgiões dentistas e otorrinolaringologistas. Relatamos neste artigo um caso raro de Síndrome de Treacher Collins com atresia coanal, uma revisão da patologia e intervenção multidisciplinar.Treacher Collins Syndrome - or mandibulofacial dysostosis - is a rare condition that presents several craniofacial deformities of different levels. This is a congenital malformation involving the first and second branchial arches. Incidence is estimated to range between 1-40,000 to 1-70,000 of live births. The disorder is characterized by abnormalities of the auricular pinna, hypoplasia of facial bones, antimongoloid slanting palpebral fissures with coloboma of the lower eyelids and cleft palate. Treacher Collins Syndrome is rarely associated with choanal atresia. A multidisciplinary team, including craniofacial surgeon, ophthalmologist, speech therapist, dental surgeon and otorhinolaryngologist, is the most appropriate setting to manage these patients. This study reports a rare case of Treacher Collins Syndrome with choanal atresia, presenting literature review and multidisciplinary intervention.

  12. Audiometric results of bilateral bone-anchored hearing aid application in patients with bilateral congenital aural atresia.

    Science.gov (United States)

    van der Pouw, K T; Snik, A F; Cremers, C W

    1998-04-01

    The effect of bilateral application of bone-anchored hearing aids (BAHAs) was examined in terms of directional hearing and speech recognition in quiet and in noise in four patients with bilateral congenital atresia who, out of pure necessity, had been using a unilateral bone-conduction hearing aid since early life. This study comprised a prospective clinical evaluation in a single subject design; four patients with bilateral congenital atresia originating from the Nijmegen BAHA series participated. Three patients had Treacher Collins syndrome. All four patients had conductive, most probably, symmetrical, hearing loss. Recently these patients had applied for a second BAHA and were subsequently fitted bilaterally. With two BAHAs, all four patients showed significant improvement in sound localization. Also, speech perception in quiet showed significant improvement with bilateral application, and a significant improvement was found in speech perception in noise in three patients. These results suggest that patients with congenital conductive, symmetrical hearing loss will benefit from bilateral BAHAs.

  13. Gaseous distention of the hypopharynx and cervical esophagus with nasal CPAP: a mimicker of pharyngeal perforation and esophageal atresia

    Energy Technology Data Exchange (ETDEWEB)

    Walor, David; Berdon, Walter; Holt, Peter D.; Fox, Matthew [Columbia University Medical Center, Department of Radiology, New York, NY (United States); Children' s Hospital of New York, New York, NY (United States); Anderson, Nicole [Columbia University Medical Center, Department of Neonatology, New York, NY (United States); Children' s Hospital of New York, New York, NY (United States)

    2005-12-01

    Nasal continuous positive airway pressure (CPAP) has been used since 1975 as the initial treatment for respiratory distress syndrome (RDS) in very premature infants. Gaseous distention of the abdomen (CPAP belly) is a common secondary effect of CPAP. Gaseous distention of the hypopharynx is also common. To determine the incidence of hypopharyngeal distention in infants on CPAP. We performed a retrospective review of the chest radiographs of 57 premature infants treated with CPAP during a 4-week period to find the presence and degree of hypopharyngeal distention. Of the 57 radiographs, 14 (25%) revealed gaseous distention of the hypopharynx and/or cervical esophagus. On occasion, this raised concern for pharyngeal perforation or esophageal atresia. Awareness that CPAP-related hypopharyngeal distention is common should help radiologists avoid erroneous consideration of esophageal atresia or hypopharyngeal perforation. (orig.)

  14. Gaseous distention of the hypopharynx and cervical esophagus with nasal CPAP: a mimicker of pharyngeal perforation and esophageal atresia

    International Nuclear Information System (INIS)

    Walor, David; Berdon, Walter; Holt, Peter D.; Fox, Matthew; Anderson, Nicole

    2005-01-01

    Nasal continuous positive airway pressure (CPAP) has been used since 1975 as the initial treatment for respiratory distress syndrome (RDS) in very premature infants. Gaseous distention of the abdomen (CPAP belly) is a common secondary effect of CPAP. Gaseous distention of the hypopharynx is also common. To determine the incidence of hypopharyngeal distention in infants on CPAP. We performed a retrospective review of the chest radiographs of 57 premature infants treated with CPAP during a 4-week period to find the presence and degree of hypopharyngeal distention. Of the 57 radiographs, 14 (25%) revealed gaseous distention of the hypopharynx and/or cervical esophagus. On occasion, this raised concern for pharyngeal perforation or esophageal atresia. Awareness that CPAP-related hypopharyngeal distention is common should help radiologists avoid erroneous consideration of esophageal atresia or hypopharyngeal perforation. (orig.)

  15. Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX.

    Science.gov (United States)

    Rolle, Udo; Linse, Barbara; Glasow, Simone; Sandig, Klaus Rainer; Richter, Thomas; Till, Holger

    2007-08-01

    An association between the triple-X syndrome (47,XXX) and gastrointestinal malformations is extremely rare. Most 47,XXX patients present with a normal phenotype, but genitourinary malformations have been described. We report a case of a child with 47,XXX and duodenal atresia. Antenatal ultrasound scan showed a dilated fetal stomach and upper part of the duodenum (double bubble phenomenon) at 31 weeks of gestation in a 31-year-old woman with polyhydramnion. The amniotic fluid karyotype showed 47,XXX. After a scheduled delivery, duodenal atresia was confirmed and treated with duodeno-duodenostomy. The possible association of gastrointestinal and genitourinary tract anomalies requires a detailed postnatal clinical investigation and ultrasonographic examination of the abdomen, retroperitoneum, and pelvis on all triple-X syndrome patients. 2007 Wiley-Liss, Inc.

  16. Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene.

    Science.gov (United States)

    Busa, Tiffany; Panait, Nicoleta; Chaumoitre, Kathia; Philip, Nicole; Missirian, Chantal

    2016-10-01

    Terminal 7q deletion is rarely reported in the literature. Holoprosencephaly and sacral dysgenesis are found in association with this deletion, due to haploinsufficiency of SHH and HLBX9 genes respectively. We report on a 2-year-old boy with 7q35-36.3 deletion encompassing SHH identified by oligonucleotide array comparative genomic hybridization. In addition to other frequent features, the patient presented with esophageal atresia and tracheoeosophageal fistula diagnosed at birth. This case, together with two others previously described, one presenting with esophageal atresia, the other with congenital esophageal stenosis, confirms the possible association between congenital esophageal malformations and 7q terminal deletion including SHH. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

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

    Science.gov (United States)

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

    2015-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

    Ganguli, Suvranu, E-mail: sganguli@partners.org; Kalva, Sanjeeva; Oklu, Rahmi; Walker, T. Gregory; Datta, Neil [Massachusetts General Hospital and Harvard Medical School, Division of Vascular Imaging and Intervention, Department of Imaging (United States); Grabowski, Eric F. [Massachusetts General Hospital and Harvard Medical School, Division of Hematology and Oncology, Department of Pediatrics (United States); Wicky, Stephan [Massachusetts General Hospital and Harvard Medical School, Division of Vascular Imaging and Intervention, Department of Imaging (United States)

    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.

  19. Large right ventricular sinusoids in an infant with aorta-left ventricular tunnel and proximal right coronary artery atresia.

    Science.gov (United States)

    Chen, Peter C; Spinner, Joseph A; Heinle, Jeffrey S

    2018-04-16

    We report a 1-month-old infant diagnosed with an aorta-left ventricular tunnel, ventricular septal defect, and right coronary atresia with right ventricular sinusoids. The patient's anatomy and physiology did not indicate right-ventricular-dependent coronary circulation, and therefore right ventricular decompression could be performed without compromising coronary perfusion during surgical correction. A detailed understanding of the coronary anatomy is critical in managing this defect when coronary anomalies are present.

  20. Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1.

    Science.gov (United States)

    Horiuchi, Katsumi; Ariga, Tadashi; Fujioka, Hirotaka; Kawashima, Kunihiro; Yamamoto, Yuhei; Igawa, Hiroharu; Sakiyama, Yukio; Sugihara, Tsuneki

    2004-07-15

    Treacher Collins syndrome (TCS) is caused by mutations in TCOF1 of the nonsense, small deletion, and small insertion types, which most likely result in haploinsufficiency. We report a novel de novo nonsense mutation 2731C --> T, resulting in Arg911Stop, which truncates the protein. Our patient had the classic findings of TCS, but with documented craniosynostosis, choanal atresia, and esophageal regurgitation. Copyright 2004 Wiley-Liss, Inc.

  1. Di(2-ethylhexyl) phthalate inhibits antral follicle growth, induces atresia, and inhibits steroid hormone production in cultured mouse antral follicles

    Energy Technology Data Exchange (ETDEWEB)

    Hannon, Patrick R., E-mail: phannon2@illinois.edu; Brannick, Katherine E., E-mail: kbran@illinois.edu; Wang, Wei, E-mail: Wei.Wang2@covance.com; Gupta, Rupesh K., E-mail: drrupesh@yahoo.com; Flaws, Jodi A., E-mail: jflaws@illinois.edu

    2015-04-01

    Di(2-ethylhexyl) phthalate (DEHP) is a ubiquitous environmental toxicant found in consumer products that causes ovarian toxicity. Antral follicles are the functional ovarian units and must undergo growth, survival from atresia, and proper regulation of steroidogenesis to ovulate and produce hormones. Previous studies have determined that DEHP inhibits antral follicle growth and decreases estradiol levels in vitro; however, the mechanism by which DEHP elicits these effects is unknown. The present study tested the hypothesis that DEHP directly alters regulators of the cell cycle, apoptosis, and steroidogenesis to inhibit antral follicle functionality. Antral follicles from adult CD-1 mice were cultured with vehicle control or DEHP (1–100 μg/ml) for 24–96 h to establish the temporal effects of DEHP on the follicle. Following 24–96 h of culture, antral follicles were subjected to gene expression analysis, and media were subjected to measurements of hormone levels. DEHP increased the mRNA levels of cyclin D2, cyclin dependent kinase 4, cyclin E1, cyclin A2, and cyclin B1 and decreased the levels of cyclin-dependent kinase inhibitor 1A prior to growth inhibition. Additionally, DEHP increased the mRNA levels of BCL2-associated agonist of cell death, BCL2-associated X protein, BCL2-related ovarian killer protein, B-cell leukemia/lymphoma 2, and Bcl2-like 10, leading to an increase in atresia. Further, DEHP decreased the levels of progesterone, androstenedione, and testosterone prior to the decrease in estradiol levels, with decreased mRNA levels of side-chain cleavage, 17α-hydroxylase-17,20-desmolase, 17β-hydroxysteroid dehydrogenase, and aromatase. Collectively, DEHP directly alters antral follicle functionality by inhibiting growth, inducing atresia, and inhibiting steroidogenesis. - Highlights: • DEHP inhibits antral follicle growth by dysregulating cell cycle regulators. • DEHP induces antral follicle atresia by dysregulating apoptosis regulators. • DEHP

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

    International Nuclear Information System (INIS)

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

    2012-01-01

    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.

  3. Di(2-ethylhexyl) phthalate inhibits antral follicle growth, induces atresia, and inhibits steroid hormone production in cultured mouse antral follicles

    International Nuclear Information System (INIS)

    Hannon, Patrick R.; Brannick, Katherine E.; Wang, Wei; Gupta, Rupesh K.; Flaws, Jodi A.

    2015-01-01

    Di(2-ethylhexyl) phthalate (DEHP) is a ubiquitous environmental toxicant found in consumer products that causes ovarian toxicity. Antral follicles are the functional ovarian units and must undergo growth, survival from atresia, and proper regulation of steroidogenesis to ovulate and produce hormones. Previous studies have determined that DEHP inhibits antral follicle growth and decreases estradiol levels in vitro; however, the mechanism by which DEHP elicits these effects is unknown. The present study tested the hypothesis that DEHP directly alters regulators of the cell cycle, apoptosis, and steroidogenesis to inhibit antral follicle functionality. Antral follicles from adult CD-1 mice were cultured with vehicle control or DEHP (1–100 μg/ml) for 24–96 h to establish the temporal effects of DEHP on the follicle. Following 24–96 h of culture, antral follicles were subjected to gene expression analysis, and media were subjected to measurements of hormone levels. DEHP increased the mRNA levels of cyclin D2, cyclin dependent kinase 4, cyclin E1, cyclin A2, and cyclin B1 and decreased the levels of cyclin-dependent kinase inhibitor 1A prior to growth inhibition. Additionally, DEHP increased the mRNA levels of BCL2-associated agonist of cell death, BCL2-associated X protein, BCL2-related ovarian killer protein, B-cell leukemia/lymphoma 2, and Bcl2-like 10, leading to an increase in atresia. Further, DEHP decreased the levels of progesterone, androstenedione, and testosterone prior to the decrease in estradiol levels, with decreased mRNA levels of side-chain cleavage, 17α-hydroxylase-17,20-desmolase, 17β-hydroxysteroid dehydrogenase, and aromatase. Collectively, DEHP directly alters antral follicle functionality by inhibiting growth, inducing atresia, and inhibiting steroidogenesis. - Highlights: • DEHP inhibits antral follicle growth by dysregulating cell cycle regulators. • DEHP induces antral follicle atresia by dysregulating apoptosis regulators. • DEHP

  4. Bisphenol A Inhibits Follicle Growth and Induces Atresia in Cultured Mouse Antral Follicles Independently of the Genomic Estrogenic Pathway1

    OpenAIRE

    Peretz, Jackye; Craig, Zelieann R.; Flaws, Jodi A.

    2012-01-01

    Bisphenol A (BPA) is an estrogenic chemical used to manufacture many commonly used plastic and epoxy resin-based products. BPA ubiquitously binds to estrogen receptors throughout the body, including estrogen receptor alpha (ESR1) in the ovary. Few studies have investigated the effects of BPA on ovarian antral follicles. Thus, we tested the hypothesis that BPA alters cell cycle regulators and induces atresia in antral follicles via the genomic estrogenic pathway, inhibiting follicle growth. To...

  5. Pre-operative evaluation with MR in tetralogy of Fallot and pulmonary atresia with ventricular septal defect

    Energy Technology Data Exchange (ETDEWEB)

    Holmqvist, C.; Hochbergs, P. [Univ. Hospital, Lund (Sweden). Dept of Diagnostic Radiology; Bjoerkhem, G. [Univ. Hospital, Lund (Sweden). Dept of Paediatrics; Brockstedt, S.; Laurin, S. [Univ. Hospital, Lund (Sweden). Dept of Diagnostic Radiology

    2000-01-01

    To assess whether MR imaging could replace angiography in pre-operative evaluation of patients with tetralogy of Fallot and pulmonary atresia with ventricular septal defect (VSD), especially since the surgical correction was done earlier than was previously the rule. Fourteen patients with tetralogy of Fallot (n=10) or pulmonary atresia with VSD (n=4), mean age 7.5{+-}4.4 months, were evaluated with angiocardiography and MR before definitive surgical correction. There was good diagnostic agreement between the two modalities when evaluating right ventricular outflow obstruction; 86% for valvular and 93% for supra valvular stenosis, but the agreement was somewhat lower for the sub valvular obstruction (57%). Surgery findings, however, were in favour of MR in 5 patients concerning the sub valvular right ventricular outflow tract obstruction. MR images identified all stenoses in the right and left pulmonary arteries, but overlooked one stenosis in the main pulmonary artery. MR could evaluate patency in all palliative shunts. Even in this young age group, MR imaging offers a good alternative to angiocardiography for the pre-operative evaluation of the right ventricular outflow tract, the main pulmonary artery and the proximal right and left pulmonary arteries, before definitive surgical correction of tetralogy of Fallot and pulmonary atresia with VSD.

  6. Pre-operative evaluation with MR in tetralogy of Fallot and pulmonary atresia with ventricular septal defect

    International Nuclear Information System (INIS)

    Holmqvist, C.; Hochbergs, P.; Bjoerkhem, G.; Brockstedt, S.; Laurin, S.

    2000-01-01

    To assess whether MR imaging could replace angiography in pre-operative evaluation of patients with tetralogy of Fallot and pulmonary atresia with ventricular septal defect (VSD), especially since the surgical correction was done earlier than was previously the rule. Fourteen patients with tetralogy of Fallot (n=10) or pulmonary atresia with VSD (n=4), mean age 7.5±4.4 months, were evaluated with angiocardiography and MR before definitive surgical correction. There was good diagnostic agreement between the two modalities when evaluating right ventricular outflow obstruction; 86% for valvular and 93% for supra valvular stenosis, but the agreement was somewhat lower for the sub valvular obstruction (57%). Surgery findings, however, were in favour of MR in 5 patients concerning the sub valvular right ventricular outflow tract obstruction. MR images identified all stenoses in the right and left pulmonary arteries, but overlooked one stenosis in the main pulmonary artery. MR could evaluate patency in all palliative shunts. Even in this young age group, MR imaging offers a good alternative to angiocardiography for the pre-operative evaluation of the right ventricular outflow tract, the main pulmonary artery and the proximal right and left pulmonary arteries, before definitive surgical correction of tetralogy of Fallot and pulmonary atresia with VSD

  7. Three-dimensional assessment of the temporal bone and mandible deformations in patients with congenital aural atresia.

    Science.gov (United States)

    Fu, Yaoyao; Li, Chenlong; Dai, Peidong; Zhang, Tianyu

    2017-10-01

    To investigate the deformations of temporal bone and mandible combined with congenital aural atresia. A total of 158 patients with congenital aural atresia were included in the study. The raw CT data of the temporal bone was imported into MIMICS v 12 and threshold dissection, region growing and three-dimensional (3D) calculation were used to calculate 3D models. The 3D characteristics of the temporal bone and upper part of mandible were assessed. The tympanic part of the temporal bone was all undeveloped. Of all the patients included, 14 patients were found to have severe maxillofacial malformations. Among them, 2 cases have floating arch, 4 cases have interrupted arch, 5 cases have mandibular processes hypoplasia and 3 cases have interrupted arch combined with severe maxillary malformation. Ten of the 14 patients were suffered from dysplasia of the mastoid part of the temporal bone as well. Maxillofacial malformations may sometimes coexist with congenital aural atresia. Otolaryngologists should not neglect the coexisted maxillofacial malformations and give timely referral to maxillofacial surgeons. Copyright © 2017. Published by Elsevier B.V.

  8. Hearing rehabilitation in congenital aural atresia using the bone-anchored hearing aid: audiological and satisfaction results.

    Science.gov (United States)

    Fuchsmann, Carine; Tringali, Stéphane; Disant, François; Buiret, Guillaume; Dubreuil, Christian; Froehlich, Patrick; Truy, Eric

    2010-12-01

    The BAHA (bone-anchored hearing aid) remains the most reliable method of auditory rehabilitation for patients with congenital aural atresia and improves hearing outcome and quality of life in these patients who are otherwise unable to benefit from traditional hearing aids. New techniques are being developed, such as fully implantable hearing devices, and will have to prove their efficacy and safety in this indication. To evaluate the audiological results and patient satisfaction after rehabilitation of congenital aural atresia using the BAHA. Sixteen patients suffering from bilateral congenital aural atresia were implanted with unilateral BAHA. Preoperative air- and bone-conduction thresholds and air-bone gap (ABG), preoperative sound reception threshold (SRT), postoperative aided thresholds, implantation complications, patient satisfaction, and the APHAB questionnaire were collected. After a mean follow-up period of 6.5 years, 15 patients were still using their device. Each patient had an average improvement of 33 ± 7 dB. Closure of the ABG within 15 dB of the preoperative bone-conduction thresholds occurred in 10 patients. Adverse skin reactions appeared in 50% of patients over 6.5 years of follow-up. Eleven of the 12 patients used their BAHA for more than 8 h per day.

  9. Surgical treatment of choanal atresia with transnasal endoscopic approach with stentless single side-hinged flap technique: 5 year retrospective analysis

    Directory of Open Access Journals (Sweden)

    Carmelo Saraniti

    Full Text Available Abstract Introduction: Choanal atresia is a rare congenital malformation of the nasal cavity characterized by the complete obliteration of the posterior choanae. In 67% of cases choanal atresia is unilateral, affecting mainly (71% the right nasal cavity. In contrast to the unilateral form, bilateral choanal atresia is a life-threatening condition often associated with respiratory distress with feeding and intermittent cyanosis exacerbated by crying. Surgical treatment remains the only therapeutic option. Objective: To report our experience in the use of a transnasal endoscopic approach with stentless single side-hinged flap technique for the surgical management of choanal atresia. Methods: A 5 year retrospective analysis of surgical outcomes of 18 patients treated for choanal atresia with a transnasal technique employing a single side-hinged flap without stent placement. All subjects were assessed preoperatively with a nasal endoscopy and a Maxillofacial computed tomography scan. Results: Ten males and eight females with a mean age at the time of surgery of 20.05 ± 11.32 years, underwent surgery for choanal atresia. Fifteen subjects (83.33% had a bony while 3 (26.77% a mixed bony-membranous atretic plate. Two and sixteen cases suffered from bilateral and unilateral choanal atresia respectively. No intra- and/or early postoperative complications were observed. Between 2 and 3 months after surgery two cases (11.11% of partial restenosis were found. Only one of these presented a relapse of the nasal obstruction and was subsequently successfully repaired with a second endoscopic procedure. Conclusion: The surgical technique described follows the basic requirements of corrective surgery and allows good visualization, evaluation and treatment of the atretic plate and the posterior third of the septum, in order to create the new choanal opening. We believe that the use of a stent is not necessary, as recommended in case of other surgical techniques

  10. “Ninjinto” (Ginseng Decoction, a Traditional Japanese Herbal Medicine, Improves Gastrointestinal Symptoms and Immune Competence in Patients with Chronic Intestinal Failure

    Directory of Open Access Journals (Sweden)

    Shuichiro Uehara

    2015-01-01

    Full Text Available Background. Treating functional gastrointestinal disorders is extremely difficult. We herein report the effect of the oral administration of Ninjinto (NJT, ginseng decoction, a traditional Japanese Kampo medicine, on chronic intestinal failure. Patients and Methods. Seven patients with chronic intestinal failure treated with NJT were evaluated in this study. The primary diseases included chronic intestinal pseudoobstruction (CIPO: n=4, short bowel syndrome (SBS: n=2, and intestinal atresia n=1. All patients orally received NJT extract granules at a dose of 0.3 g/kg BW per day. The treatment outcomes were then assessed according to the patients’ symptoms and consecutive abdominal X-ray findings. Results. The targeted symptoms were abdominal distension in four patients, diarrhea in three patients, and frequent hospitalization due to infections in two patients. An improvement in the symptoms was observed in six of the seven patients, whereas one patient with SBS did not show any improvement. An improvement in an abdominal roentgenogram was observed in the four patients with remarkably dilated bowel loops due to CIPO. Conclusions. NJT may be effective in controlling functional gastrointestinal disorders associated with chronic intestinal failure. The use of Kampo medicine in the field of pediatric surgery may help to improve the quality of life in children suffering from such conditions.

  11. Small intestinal transplantation.

    LENUS (Irish Health Repository)

    Quigley, E M

    2012-02-03

    The past few years have witnessed a considerable shift in the clinical status of intestinal transplantation. A great deal of experience has been gained at the most active centers, and results comparable with those reported at a similar stage in the development of other solid-organ graft programs are now being achieved by these highly proficient transplant teams. Rejection and its inevitable associate, sepsis, remain ubiquitous, and new immunosuppressant regimes are urgently needed; some may already be on the near horizon. The recent success of isolated intestinal grafts, together with the mortality and morbidity attendant upon the development of advanced liver disease related to total parenteral nutrition, has prompted the bold proposal that patients at risk for this complication should be identified and should receive isolated small bowel grafts before the onset of end-stage hepatic failure. The very fact that such a suggestion has begun to emerge reflects real progress in this challenging field.

  12. Check-list for the assessment of functional impairment in children with congenital aural atresia.

    Science.gov (United States)

    Montino, Silvia; Agostinelli, Anna; Trevisi, Patrizia; Martini, Alessandro; Ghiselli, Sara

    2017-11-01

    Congenital Aural Atresia (CAA) is a deformity of the external ear and it is commonly associated with malformations of middle and inner ear and, in some cases, with other facial deformities. Very few assessment measures exist for evaluating the functional impairment in children with CAA. Purpose of this study is to introduce and describe an assessment Checklist, (nominated FOS Checklist) that covers feeding abilities (F), oralmotor skills (O), communication/language development (S) in children with CAA. FOS wants to offer a range of assessment providing a profile of the child in comparison to hearing peers and it aims to make clinicians able to identify additional problems and areas of difficulties as well as specific abilities and skills. Secondary, we want to investigate the presence of correlations between disorders and side of CAA. a new Checklist (FOS Checklist) was administered to 68 children with CAA. Feeding abilities are age-adequate in 94,3% of all patients. 54,4% of all patients are in need for further assessment of their oral-motor skills; delays in language development were found in 44,1% of cases. Orofacial development delays have been observed in 57.2% of subjects among the bilateral CAA group, in 53.9% among the right CAA group and in 53.4% among the left CAA group. Patients referred for further language evaluation were 42,9% in the bilateral CAA group, 33.3% in the right CAA group and 33.3% in the left CAA group. According to the χ 2 analysis, referral for further assessment is independent from side of aural atresia. Subjects with bilateral CAA are more likely to be referred for further assessment, both for oral motor aspects and for speech perception and language development. However, there is not a significant statistical difference between the performances of children with bilateral or unilateral CAA. FOS Checklist is simple, reliable and time effective and can be used in everyday clinical practice. FOS enable clinicians to identify additional

  13. VACTERL associations in children undergoing surgery for esophageal atresia and anorectal malformations: Implications for pediatric surgeons.

    Science.gov (United States)

    Lautz, Timothy B; Mandelia, Ankur; Radhakrishnan, Jayant

    2015-08-01

    The aim of this study was to compare the frequency and nature of VACTERL associations between children who underwent surgery for esophageal atresia/tracheoesophageal fistula (EA/TEF) and anorectal malformation (ARM). We identified all children who underwent surgery for EA/TEF and/or ARM at hospitals participating in the Pediatric Health Information System (PHIS) database between 2004 and 2012. PHIS is an administrative database of free-standing children's hospitals managed by the Child Health Corporation of America (Overland Park, KS) that contains patient-level care data from 43 hospitals. The complete records of patients in this cohort were cross-referenced for diagnoses of vertebral, cardiac, renal and limb anomalies. 2689 children underwent repair of esophageal atresia. Mean gestational age was 36.5±3.2weeks and mean birth weight was 2536.0±758.7g. Associated VACTERL diagnoses included vertebral anomaly in 686 (25.5%), ARM in 312 (11.6%), congenital heart disease in 1588 (59.1%), renal disease in 587 (21.8%) and limb defect in 192 (7.1%). 899 (33.4%) had 3 or more anomalies and met criteria for a VACTERL diagnosis. 4962 children underwent repair of ARM. Mean gestational age was 37.4±2.7weeks and mean birth weight was 2895.2±765.1g. Associated VACTERL diagnoses included vertebral anomaly in 1562 (31.5%), congenital heart disease in 2007 (40.4%), EA/TEF in 348 (7.0%), renal disease in 1723 (34.7%) and limb defect in 359 (7.2%). 1795 (36.2%) had 3 or more anomalies and met criteria for a VACTERL diagnosis. VACTERL associations are relatively common in children with EA/TEF and ARM and occur in specific clusters, with cardiac disease more common in EA/TEF and spinal and renal/urinary anomalies more common in ARM. Copyright © 2015 Elsevier Inc. All rights reserved.

  14. IL-6, TNF-α, IL-10, and nutritional status in pediatric patients with biliary atresia,

    Directory of Open Access Journals (Sweden)

    Maria Ines de Albuquerque Wilasco

    Full Text Available Abstract Objectives: The objective of the present study is to evaluate whether IL-6, TNF-α, IL-10 are associated with nutritional status in patients with cirrhosis secondary to biliary atresia and compare to healthy controls. Methods: The parameters used for nutritional assessment were the standard deviation scores of height-for-age and of triceps skinfold thickness-for-age. The severity of cirrhosis was evaluated using the Child–Pugh score and PELD/MELD. Serum cytokines were measured using Cytometric Bead Array flow cytometry. Results: IL-6, TNF-α, and IL-10 were significantly higher in the cirrhosis group when compared with the control group (2.4 vs. 0.24 (p < 0.001, 0.21 vs. 0.14 (p = 0.007, and 0.65 vs. 0.36 (p = 0.004, respectively. IL-6 and IL-10 were positively correlated with disease severity (0.450 [p = 0.001] and 0.410; [p = 0.002], respectively. TNF-α did not show a significant correlation with disease severity (0.100; p = 0.478. Regarding nutritional evaluation, IL-6 was negatively correlated with the standard deviation score of height-for-age (−0.493; p < 0.001 and of triceps skinfold thickness-for-age (−0.503; p < 0.001, respectively. IL-10 exhibited a negative correlation with the standard deviation score of height-for-age (−0.476; p < 0.001 and the standard deviation score of triceps skinfold thickness-for-age (−0.388; p = 0.004. TNF-α did not show any significance in both anthropometric parameters (−0.083 (p = 0.555 and −0.161 (p = 0.253. Conclusion: The authors suggest that, in patients with cirrhosis secondary to biliary atresia, IL-6 could be used as a possible supporting biomarker of deficient nutritional status and elevated IL-10 levels could be used as a possible early-stage supporting biomarker of deteriorating nutritional status.

  15. Small intestinal cytochromes P450.

    Science.gov (United States)

    Kaminsky, L S; Fasco, M J

    1991-01-01

    Small intestinal cytochromes P450 (P450) provide the principal, initial source of biotransformation of ingested xenobiotics. The consequences of such biotransformation are detoxification by facilitating excretion, or toxification by bioactivation. P450s occur at highest concentrations in the duodenum, near the pylorus, and at decreasing concentrations distally--being lowest in the ileum. Highest concentrations occur from midvillus to villous tip, with little or none occurring in the crypts of Lieberkuehn. Microsomal P4503A, 2C8-10, and 2D6 forms have been identified in human small intestine, and P450s 2B1, possibly 2B2, 2A1, and 3A1/2 were located in endoplasmic reticulum of rodent small intestine, while P4502B4 has been purified to electrophoretic homogeneity from rabbit intestine. Some evidence indicates a differential distribution of P450 forms along the length of the small intestine and even along the villus. Rat intestinal P450s are inducible by xenobiotics--with phenobarbital (PB) inducing P4502B1, 3-methylcholanthrene (3-MC) inducing P4501A1, and dexamethasone inducing two forms of P4503A. Induction is most effectively achieved by oral administration of the agents, and is rapid--aryl hydrocarbon hydroxylase (AHH) was increased within 1 h of administration of, for example, 3-MC. AHH, 7-ethoxycoumarin O-deethylase (ECOD), and 7-ethoxyresorufin O-deethylase (EROD) have been used most frequently as substrates to characterize intestinal P450s. Dietary factors affect intestinal P450s markedly--iron restriction rapidly decreased intestinal P450 to beneath detectable values; selenium deficiency acted similarly but was less effective; Brussels sprouts increased intestinal AHH activity 9.8-fold, ECOD activity 3.2-fold, and P450 1.9-fold; fried meat and dietary fat significantly increased intestinal EROD activity; a vitamin A-deficient diet increased, and a vitamin A-rich diet decreased intestinal P450 activities; and excess cholesterol in the diet increased intestinal

  16. Lipo sarcoma in small intestine

    International Nuclear Information System (INIS)

    Rodriguez Iglesias, J.; Pineyro Gutierrez, A.; Taroco Medeiros, L.; Fein Kolodny, C.; Navarrete Pedocchi, H.

    1987-01-01

    A case is presented by primitive liposarcoma in small intestine , an extensive bibliographical review foreigner and national in this case. It detach the exceptional of the intestinal topography of the liposarcomas; and making stress in the relative value of the computerized tomography and ultrasonography in the diagnose of the small intestine tumors . As well as in the sarcomas of another topography, chemo and radiotherapy associated to the exeresis surgery, it can be of benefit [es

  17. Long-term burden of care and radiation exposure in survivors of esophageal atresia.

    Science.gov (United States)

    Zamiara, Paul; Thomas, Karen E; Connolly, Bairbre L; Lane, Hillary; Marcon, Margaret A; Chiu, Priscilla P

    2015-10-01

    Patients with esophageal atresia with or without tracheoesophageal fistula (EA/TEF) historically have had a high risk of neonatal mortality but the majority of patients are now expected to live into adulthood. However, the long-term burden of care among recent EA/TEF survivors has not been documented. A single-institution retrospective review of newborns with EA/TEF treated from 2001-2005 was conducted, including initial and total hospitalization length of stay, and number of clinic visits and procedures requiring general anesthesia in the first three years of life. Exposure to and number of radiological studies involving ionizing radiation (IR) were recorded. Seventy-one of 78 (91%) patients survived to discharge and 69 were included for analysis. Mean length of initial hospital stay was 51.3 (range 9-390) days. By age 3 years, patients required 4.5 (mean, range 1-23) procedures performed under general anesthesia, attended 13.5 (mean, range 3-40) outpatient visits and were exposed to 17.4 mSv (mean, range 3.0-59.9) of IR from 40 (mean, range 5-165) radiological studies. Patients with EA/TEF need complex and frequent hospital-based care from infancy to early childhood. Opportunities to critically review clinical services and imaging needs should be explored to improve the experience of patients and their families. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. Transcription Factor GATA6: A Novel Marker and Putative Inducer of Ductal Metaplasia in Biliary Atresia.

    Science.gov (United States)

    Soini, Tea; Pihlajoki, Marjut; Andersson, Noora; Lohi, Jouko; Huppert, Kari A; Rudnick, David A; Huppert, Stacey S; Wilson, David B; Pakarinen, Mikko P; Heikinheimo, Markku

    2018-02-01

    Biliary atresia (BA), a neonatal liver disease, is characterized by obstruction of extrahepatic bile ducts with subsequent cholestasis, inflammation, and progressive liver fibrosis. To gain insights into the pathophysiology of BA, we focused attention on GATA6, a transcription factor implicated in biliary development. Early in fetal development GATA6 expression is evident in cholangiocytes and hepatocytes, but by late gestation it is extinguished in hepatocytes. Utilizing a unique set of BA liver samples collected before and after successful portoenterostomy (PE), we found that GATA6 expression is markedly upregulated in hepatocytes of patients with BA compared to healthy and cholestatic disease controls. This upregulation is recapitulated in two murine models simulating bile duct obstruction and intrahepatic bile ductule expansion. GATA6 expression in BA livers correlates with two established negative prognostic indicators (age at PE, degree of intrahepatic bile ductule expansion) and decreases after normalization of serum bilirubin by PE. GATA6 expression in BA livers correlates with expression of known regulators of cholangiocyte differentiation ( JAGGED1, HNF1β, and HNF6). These same genes are upregulated after enforced expression of GATA6 in human hepatocyte cell models. In conclusion, GATA6 is a novel marker and a putative driver of hepatocyte-cholangiocyte metaplasia in BA and its expression in hepatocytes is downregulated after successful PE.

  19. Prevalence of Malnutrition and Feeding Difficulties in Children With Esophageal Atresia.

    Science.gov (United States)

    Menzies, Jessica; Hughes, Jennifer; Leach, Steven; Belessis, Yvonne; Krishnan, Usha

    2017-04-01

    Growth and feeding problems have been described in children with esophageal atresia (EA). Ongoing gastrointestinal and respiratory complications such as Gastroesophageal reflux disease, esophageal dysmotility, strictures, and respiratory infections may contribute. The aim of the study was to document the prevalence of malnutrition and feeding difficulties and examine predictive factors, which may influence feeding and growth in children attending a multidisciplinary EA clinic in Sydney, Australia. A retrospective review of 75 children, ages 0 to 16 years, who attended a multidisciplinary EA clinic between 2011 and 2014. Data on demographics, comorbidities, nutrition, and mealtime behaviors were collected from their initial clinic appointment. Factors that may affect on growth and mealtime behaviors were identified and analyzed. Nine percent of children were malnourished and 9% were stunted. Infants, children with prior fundoplication, at risk of aspiration, or those who had surgery in the first year of life additional to EA repair were significantly more likely to be malnourished (P children required texture modification at their meals, with parental concern being the most common reason. Younger children were less likely to be eating age-appropriate textures (P = 0.04) which improved after 5 years of age. Poor growth and inability to manage age-appropriate textures are often present in children with EA, particularly in the younger years. This highlights the need for early intervention in a specialist multidisciplinary EA clinic in which dietetics and speech pathology are available.

  20. Determinants of exercise capacity in school-aged esophageal atresia patients.

    Science.gov (United States)

    Toussaint-Duyster, Leontien C C; van der Cammen-van Zijp, Monique H M; Spoel, Marjolein; Lam, Mhanfei; Wijnen, Rene M H; de Jongste, Johan C; Tibboel, Dick; van Rosmalen, Joost; IJsselstijn, Hanneke

    2017-09-01

    Data on long-term outcome of exercise capacity in school-aged children with esophageal atresia (EA) are scarce. We evaluated maximal exercise capacity and its relation to lung function. Moreover, we studied other possible determinants of exercise capacity and lung function. Exercise capacity of 63 children with EA born 1999-2007 was evaluated at the age of 8 years with the Bruce-protocol. Dynamic and static lung volumes, bronchodilator response and diffusion capacity were measured. Furthermore, perinatal characteristics, hospital admissions for lower respiratory tract infections (RTIs), RTIs treated with antibiotics in the past year, symptoms of gastroesophageal reflux, weight-for-height, and sports participation were evaluated as other potential determinants. Exercise capacity was significantly below normal: mean (SD) SDS -0.91 (0.97); P Exercise capacity was positively associated with total lung capacity and negatively with SDS weight-for-height. Spirometric parameters were negatively associated with congenital cardiac malformation, duration of ventilation, and persistent respiratory morbidity. Eight-year-old children with EA had reduced exercise capacity which was only associated with the reduction in TLC he and higher SDS weight-for-height. We speculate that diminished physical activity with recurrent respiratory tract infections may also play a role in reduced exercise capacity. This should be subject to further research to optimize appropriate intervention. © 2017 Wiley Periodicals, Inc.

  1. Treatment and Outcome for Children with Esophageal Atresia from a Gender Perspective

    Directory of Open Access Journals (Sweden)

    Julia Ekselius

    2017-01-01

    Full Text Available Background. Besides the incidence of esophageal atresia (EA being higher in males, no other gender-specific differences in EA have been reported. The aim of this study was to search for gender-specific differences in EA. Methods. A retrospective study was conducted at a tertiary center for pediatric surgery. The medical charts of infants born with EA were reviewed. 20 girls were identified, and 20 boys were selected as matched controls with respect to concomitant malformations. Their treatment and outcome were evaluated. Results. Polyhydramnios was more common in pregnancies with boys, 40%, versus girls, 10%, with EA (p<0.01. In total, 36 (90% children had patent ductus arteriosus, without any gender difference (18 and 18, resp., p=1. The distribution of days at the different levels of care was not equally distributed between boys and girls. Boys with EA had significantly more postoperative days (median 5 days in the ward than girls (median 5 and 2 days, resp., p=0.04. No other gender-specific differences in surgical treatment, complications, or symptoms at follow-up were identified. Conclusion. Polyhydramnios appears to be more frequent in pregnancies with boys than girls with EA. In this study, boys have longer stays than girls at the pediatric surgery ward.

  2. Treatment and Outcome for Children with Esophageal Atresia from a Gender Perspective.

    Science.gov (United States)

    Ekselius, Julia; Salö, Martin; Arnbjörnsson, Einar; Stenström, Pernilla

    2017-01-01

    Besides the incidence of esophageal atresia (EA) being higher in males, no other gender-specific differences in EA have been reported. The aim of this study was to search for gender-specific differences in EA. A retrospective study was conducted at a tertiary center for pediatric surgery. The medical charts of infants born with EA were reviewed. 20 girls were identified, and 20 boys were selected as matched controls with respect to concomitant malformations. Their treatment and outcome were evaluated. Polyhydramnios was more common in pregnancies with boys, 40%, versus girls, 10%, with EA ( p patent ductus arteriosus, without any gender difference (18 and 18, resp., p =1). The distribution of days at the different levels of care was not equally distributed between boys and girls. Boys with EA had significantly more postoperative days (median 5 days) in the ward than girls (median 5 and 2 days, resp., p =0.04). No other gender-specific differences in surgical treatment, complications, or symptoms at follow-up were identified. Polyhydramnios appears to be more frequent in pregnancies with boys than girls with EA. In this study, boys have longer stays than girls at the pediatric surgery ward.

  3. Esophageal atresia with or without tracheophgeal fistula: success and failure in 94 cases

    International Nuclear Information System (INIS)

    Al-Salem, Ahmed H.; Tayeb, M.; Khogair, S.; Roy, A.; Al-Jishi, N.; Alsenan, K.; Shaban, H.; Ahmad, M.

    2006-01-01

    The management of newborns with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) has evolved considerably over the years. Currently an overall survival of 85% to 90% has been reported from developed countries. In developing countries, several factors contribute to higher mortalities rates. We describe our experience with 94 consecutive cases of FA with or without TEF. We retrospectively studied 94 patients with EA with or without TEF treated at our hospital over a period of 15 years. Medical records were reviewed for age at diagnosis, sex, birth weight, associated anomalies, aspiration pneumonia, method of diagnosis, treatment, postoperative complications and outcome. Ninety-four newborns (55 males and 39 females) with EA/TEF were treated at our hospital. Their mean birth weight was 2.2 kg (700g to 3800g). Age at diagnosis ranged from birth to 7 days. At the time of admission 37 (39.4%) had aspiration pneumonia. Associated anomalies were seen in 46 (49%) patients. Thirteen patients had major associated anomalies that contributed to mortality. Postoperative complications were similar to those from developed countries but overall operative mortality (30.8%) was high. The overall mortality was high but excluding major congenital malformations, sepsis was the most frequent cause of death. Factors contributing to mortality included prematurely, delay in diagnosis with an increased incidence of aspiration pneumonia and a shortage of qualified nurses. To improve overall outcome, factors contributing to sepsis should be evaluated and efforts and efforts should be made to overcome them. (author)

  4. An iPhone application using a novel stool color detection algorithm for biliary atresia screening.

    Science.gov (United States)

    Hoshino, Eri; Hayashi, Kuniyoshi; Suzuki, Mitsuyoshi; Obatake, Masayuki; Urayama, Kevin Y; Nakano, Satoshi; Taura, Yasuyuki; Nio, Masaki; Takahashi, Osamu

    2017-10-01

    The stool color card has been the primary tool for identifying acholic stools in infants with biliary atresia (BA), in several countries. However, BA stools are not always acholic, as obliteration of the bile duct occurs gradually. This study aims to introduce Baby Poop (Baby unchi in Japanese), a free iPhone application, employing a detection algorithm to capture subtle differences in colors, even with non-acholic BA stools. The application is designed for use by caregivers of infants aged approximately 2 weeks-1 month. Baseline analysis to determine optimal color parameters predicting BA stools was performed using logistic regression (n = 50). Pattern recognition and machine learning processes were performed using 30 BA and 34 non-BA images. Additional 5 BA and 35 non-BA pictures were used to test accuracy. Hue, saturation, and value (HSV) were the preferred parameter for BA stool identification. A sensitivity and specificity were 100% (95% confidence interval 0.48-1.00 and 0.90-1.00, respectively) even among a collection of visually non-acholic, i.e., pigmented BA stools and relatively pale-colored non-BA stools. Results suggest that an iPhone mobile application integrated with a detection algorithm is an effective and convenient modality for early detection of BA, and potentially for other related diseases.

  5. Improved Outcome of Biliary Atresia with Postoperative High-Dose Steroid

    Directory of Open Access Journals (Sweden)

    Rui Dong

    2013-01-01

    Full Text Available Objective. The dosage, duration, and the benefits of high-dose steroid treatment and outcome in biliary atresia (BA remain controversial. In this study, we evaluated the impact of high-dose steroid therapy on the outcome of BA after the Kasai procedure. Methods. Intravenous prednisolone administration was started 1 week after surgery, followed by 8 to 12 weeks of oral prednisolone. Total bilirubin (TB levels (3, 6, and 12 months after surgery, early onset of cholangitis, and two-year native liver survival were evaluated. Results. 53.4%, 56.9%, and 58.1% of the patients in the high-dose steroid group were jaundice-free 3, 6, and 12 months after surgery, respectively; these values were significantly higher than the 38.7%, 39.4%, and 43.3% of the low-dose steroid group. One year after surgery, the incidence of cholangitis in the high-dose group (32.0% was lower than that in the low-dose group (48.0%. Infants with native liver in the high-dose group had a better two-year survival compared to those in the low-dose steroid group (53.7% versus 42.6%. Conclusions. The high-dose steroid protocol can reduce the incidence of cholangitis, increase the jaundice-free rate, and improve two-year survival with native liver after the Kasai operation.

  6. Duodenal Atresia: Open versus MIS Repair—Analysis of Our Experience over the Last 12 Years

    Directory of Open Access Journals (Sweden)

    Salvatore Fabio Chiarenza

    2017-01-01

    Full Text Available Objective. Duodenal atresia (DA routinely has been corrected by laparotomy and duodenoduodenostomy with excellent long-term results. We revisited the patients with DA treated in the last 12 years (2004–2016 comparing the open and the minimally invasive surgical (MIS approach. Methods. We divided our cohort of patients into two groups. Group 1 included 10 patients with CDO (2004–09 treated with open procedure: 5, DA; 3, duodenal web; 2, extrinsic obstruction. Three presented with Down’s syndrome while 3 presented with concomitant malformations. Group 2 included 8 patients (2009–16: 1, web; 5, DA; 2, extrinsic obstruction. Seven were treated by MIS; 1 was treated by Endoscopy. Three presented with Down’s syndrome; 3 presented with concomitant malformations. Results. Average operating time was 120 minutes in Group 1 and 190 minutes in Group 2. In MIS Group the visualization was excellent. We recorded no intraoperative complications, conversions, or anastomotic leakage. Feedings started on 3–7 postoperative days. Follow-up showed no evidence of stricture or obstruction. In Group 1 feedings started within 10–22 days and we have 1 postoperative obstruction. Conclusions. Laparoscopic repair of DA is one of the most challenging procedures among pediatric laparoscopic procedures. These patients had a shorter length of hospitalization and more rapid advancement to full feeding compared to patients undergoing the open approach. Laparoscopic repair of DA could be the preferred technique, safe, and efficacious, in the hands of experienced surgeons.

  7. Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia.

    Directory of Open Access Journals (Sweden)

    Zahi Abdul-Sater

    Full Text Available Tricuspid Atresia (TA is a rare form of congenital heart disease (CHD with usually poor prognosis in humans. It presents as a complete absence of the right atrio-ventricular connection secured normally by the tricuspid valve. Defects in the tricuspid valve are so far not associated with any genetic locus, although mutations in numerous genes were linked to multiple forms of congenital heart disease. In the last decade, Knock-out mice have offered models for cardiologists and geneticists to study the causes of congenital disease. One such model was the Nfatc1(-/- mice embryos which die at mid-gestation stage due to a complete absence of the valves. NFATC1 belongs to the Rel family of transcription factors members of which were shown to be implicated in gene activation, cell differentiation, and organogenesis. We have previously shown that a tandem repeat in the intronic region of NFATC1 is associated with ventricular septal defects. In this report, we unravel for the first time a potential link between a mutation in NFATC1 and TA. Two heterozygous missense mutations were found in the NFATC1 gene in one indexed-case out of 19 patients with TA. The two amino-acids changes were not found neither in other patients with CHDs, nor in the control healthy population. Moreover, we showed that these mutations alter dramatically the normal function of the protein at the cellular localization, DNA binding and transcriptional levels suggesting they are disease-causing.

  8. Distribution of Interstitial Cells of Cajal in the Esophagus of Fetal Rats with Esophageal Atresia

    Directory of Open Access Journals (Sweden)

    Caner Isbir

    2016-04-01

    Full Text Available Aim: Scarcity of the interstitial cells of Cajal (ICC is related to motility disorders. In the study, we aimed to evaluate the number and density of ICCs in the fetal rat esophagus in the adriamycin - esophageal atresia (EA model. Material and Method: Rat fetuses were divided into three groups as a control, adriamycin group without EA and adriamycin group with EA. Four doses of adriamycin, 2 mg/kg each, were injected intraperitoneally to the adriamycin group rats between on 6 and 9 days of gestation. The presence of ICCs in the esophagus of the rat fetuses was determined by using an immunohistochemistry technique (c-kit, CD117. The average numbers of ICCs were calculated with microscopic evaluation by using a visual scoring system (range1 to 3. Results: Seven fetuses were included in each group. The ICCs score 3 distributions of fetuses were 5 (72% fetuses in the control group, 3 (43% fetuses in the adriamycin group without EA, 1 (14% fetus in the adriamycin group with EA. It have been found that there was a marked reduction of ICCs distribution in the adriamycin group with EA compared to control group (p 0.05. Discussion: ICCs density was significantly decreased in the rat fetuses with EA compared to the fetuses without EA. These findings support the idea that ICCs density may be congenitally abnormal in EA. This may be led to dismotility seen in the operated esophagus due to EA.

  9. Hereditary intestinal polyposis syndromes.

    Science.gov (United States)

    Dean, P A

    1996-01-01

    Colorectal cancer is one of the most common cancers in the world, with overall mortality exceeding 40% even with treatment. Effective efforts for screening and prevention are most likely to succeed in patient groups identified as high risk for colorectal cancer, most notably the hereditary intestinal polyposis syndromes. In these syndromes, benign polyps develop throughout the intestinal tract prior to the development of colorectal cancer, marking the patient and associated family for precancer diagnosis followed by either close surveillance or preventive treatment. This review article was undertaken to discuss the most recent developments in the knowledge of hereditary intestinal polyposis syndromes, emphasizing the clinical approach to diagnosis and treatment relative to preventing the development of cancer. The most common of the hereditary polyposis syndromes is familial adenomatous polyposis (FAP), which is characterized by the development of hundreds to thousands of adenomatous polyps in the colon followed at an early age by colorectal cancer. Colorectal cancer can be prevented in this autosomal dominant condition by prophylactic colectomy, though a risk for other tumors, including periampullary cancers, remains throughout life. Variant of FAP associated with fewer and smaller polyps (hereditary flat adenoma syndrome), or even CNS tumors (Turcot's syndrome) also carry this high risk of colorectal cancer. Hereditary hamartomatous polyposis syndromes such as juvenile polyposis and Peutz-Jeghers syndrome (also autosomal dominant) are characterized by less frequent polyps. Though these are generally benign polyps, they are also associated with a significant risk of colorectal and other cancers. Other polyposis syndromes, including neurofibromatosis and Cowden's disease, do not carry this increased risk of colorectal cancer, and therefore affect different treatment strategies. Analysis of genetic factors responsible for these and other hereditary syndromes with

  10. Intestinal parasites : associations with intestinal and systemic inflammation

    NARCIS (Netherlands)

    Zavala, Gerardo A; García, Olga P; Camacho, Mariela; Ronquillo, Dolores; Campos-Ponce, Maiza; Doak, Colleen; Polman, Katja; Rosado, Jorge L

    2018-01-01

    AIMS: Evaluate associations between intestinal parasitic infection with intestinal and systemic inflammatory markers in school-aged children with high rates of obesity. METHODS AND RESULTS: Plasma concentrations of CRP, leptin, TNF-α, IL-6 and IL-10 were measured as systemic inflammation markers and

  11. Aspectos radiológicos da atresia brônquica: relato de três casos e revisão da literatura Radiological aspects of bronchial atresia: report of three cases and review of the literature

    Directory of Open Access Journals (Sweden)

    Alexandre da Silva Neu

    2003-01-01

    Full Text Available A atresia brônquica é uma anomalia congênita rara que usualmente produz massa justa-hilar com hipertransparência distal à radiografia simples. A maioria dos pacientes é jovem e não apresenta sintomas. A tomografia computadorizada confirma o diagnóstico, permitindo o manejo conservador nos casos assintomáticos. Os autores relatam três casos de atresia brônquica. Um caso, de particular interesse, estava associado a volumosa broncocele em paciente do sexo feminino, de 45 anos de idade, que apresentou quadro sintomático de infecção respiratória. O diagnóstico foi estabelecido por meio dos achados da radiologia convencional, da tomografia computadorizada e da comparação com radiografias convencionais e tomografia linear prévios, que já demonstravam alterações. Realizou-se uma revisão sobre os achados clínicos e radiológicos dessa malformação.Bronchial atresia is a rare congenital abnormality that usually shows a juxta-hilar mass with distal radiolucency on conventional x-ray films. Most patients are young and have no symptoms. Computed tomography usually confirms the diagnosis, allowing conservative management of the asymptomatic cases. The authors report three cases of bronchial obstruction. One of the patients was of particular importance and interest, a 45-year-old female patient with symptoms of respiratory infection, due to the association with a bulky bronchocele. The diagnosis was made by analyzing the findings of conventional x-ray films and computed tomography, and the comparison with previous conventional x-ray films and linear tomography, which had already demonstrated abnormalities. A literature review on the clinical and radiological findings of this pulmonary malformation is presented.

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

    Science.gov (United States)

    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 (Patresia 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 for hearing rehabilitation. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  13. Comparison of the offset distance of the tricuspid septal leaflet in neonates with Ebstein's anomaly and neonates with pulmonary atresia with intact ventricular septum.

    Science.gov (United States)

    Kim, Min Jeong; Yu, Jeong Jin; Kang, So Yeon; Seo, Chang Deok; Baek, Jae Suk; Kim, Young-Hwue; Ko, Jae-Kon

    2015-01-01

    An indexed offset distance of the tricuspid septal leaflet ⩾8 mm/m2 is a quantitative criterion for the diagnosis of Ebstein's anomaly. The purpose of this study was to investigate the validity of this criterion for the discrimination of Ebstein's anomaly from pulmonary atresia with intact ventricular septum in neonatal patients. A total of 122 neonatal patients, 56 with Ebstein's anomaly and 66 with pulmonary atresia with intact ventricular septum, were enrolled. Diagnosis of each anomaly was based on typical morphologic features. Echocardiographic variables, including the offset distance of the tricuspid septal leaflet, were measured via an offline analysis of images recorded before 1 month of age. The offset distance of the tricuspid septal leaflet was indexed by the body surface area, and the indexed offset distances in the Ebstein's anomaly and pulmonary atresia with intact ventricular septum groups were 34.2 mm/m2 (7.1-119.1 mm/m2) and 7.2 mm/m2 (0.0-25.6 mm/m2), respectively. The indexed offset distance was ⩾8 mm/m2 in 29 (43.9%) of the patients with pulmonary atresia with intact ventricular septum; clinical and echocardiographic characteristics were comparable between these 29 patients and the remaining 37 patients with pulmonary atresia with intact ventricular septum. When an indexed offset distance ⩾8 mm/m2 was applied as a cut-off for the diagnosis of Ebstein's anomaly, the sensitivity was 0.963 and the specificity was 0.561. In conclusion, indexed offset distance ⩾8 mm/m2 cannot be used as a cut-off for the diagnosis of complicated Ebstein's anomaly in neonatal patients with pulmonary atresia with intact ventricular septum.

  14. 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

    DEFF Research Database (Denmark)

    Bjørsum-Meyer, T.; Herlin, M.; Qvist, N.

    2016-01-01

    -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...

  15. Cytokines and intestinal inflammation.

    Science.gov (United States)

    Bamias, Giorgos; Cominelli, Fabio

    2016-11-01

    Cytokines of the intestinal microenvironment largely dictate immunological responses after mucosal insults and the dominance of homeostatic or proinflammatory pathways. This review presents important recent studies on the role of specific cytokines in the pathogenesis of intestinal inflammation. The particular mucosal effects of cytokines depend on their inherent properties but also the cellular origin, type of stimulatory antigens, intermolecular interactions, and the particular immunological milieu. Novel cytokines of the interleukin-1 (IL-1) family, including IL-33 and IL-36, have dominant roles in mucosal immunity, whereas more established ones such as IL-18 are constantly enriched with unique properties. Th17 cells are important mucosal constituents, although their profound plasticity, makes the specific set of cytokines they secrete more important than their mere numbers. Finally, various cytokines, such as tumor necrosis factor-α, IL-6, tumor necrosis factor-like cytokine 1A, and death receptor, 3 demonstrate dichotomous roles with mucosa-protective function in acute injury but proinflammatory effects during chronic inflammation. The role of cytokines in mucosal health and disease is increasingly revealed. Such information not only will advance our understanding of the pathogenesis of gut inflammation, but also set the background for development of reliable diagnostic and prognostic biomarkers and cytokine-specific therapies.

  16. Hippo signalling directs intestinal fate

    DEFF Research Database (Denmark)

    le Bouteiller, Marie Catherine M; Jensen, Kim Bak

    2015-01-01

    Hippo signalling has been associated with many important tissue functions including the regulation of organ size. In the intestinal epithelium differing functions have been proposed for the effectors of Hippo signalling, YAP and TAZ1. These are now shown to have a dual role in the intestinal epit...

  17. MDCT in blunt intestinal trauma

    Energy Technology Data Exchange (ETDEWEB)

    Romano, Stefania [Department of Diagnostic Imaging, ' A.Cardarelli' Hospital, 80131 Naples (Italy)]. E-mail: stefromano@libero.it; Scaglione, Mariano [Department of Diagnostic Imaging, ' A.Cardarelli' Hospital, 80131 Naples (Italy); Tortora, Giovanni [Department of Diagnostic Imaging, ' A.Cardarelli' Hospital, 80131 Naples (Italy); Martino, Antonio [Trauma Center, ' A.Cardarelli' Hospital, 80131 Naples (Italy); Di Pietto, Francesco [Department of Diagnostic Imaging, ' A.Cardarelli' Hospital, 80131 Naples (Italy); Romano, Luigia [Department of Diagnostic Imaging, ' A.Cardarelli' Hospital, 80131 Naples (Italy); Grassi, Roberto [Department ' Magrassi-Lanzara' , Section of Radiology, Second University of Naples, 80138 Naples (Italy)

    2006-09-15

    Injuries to the small and large intestine from blunt trauma represent a defined clinical entity, often not easy to correctly diagnose in emergency but extremely important for the therapeutic assessment of patients. This article summarizes the MDCT spectrum of findings in intestinal blunt lesions, from functional disorders to hemorrhage and perforation.

  18. MDCT in blunt intestinal trauma

    International Nuclear Information System (INIS)

    Romano, Stefania; Scaglione, Mariano; Tortora, Giovanni; Martino, Antonio; Di Pietto, Francesco; Romano, Luigia; Grassi, Roberto

    2006-01-01

    Injuries to the small and large intestine from blunt trauma represent a defined clinical entity, often not easy to correctly diagnose in emergency but extremely important for the therapeutic assessment of patients. This article summarizes the MDCT spectrum of findings in intestinal blunt lesions, from functional disorders to hemorrhage and perforation

  19. Oocyte growth and fecundity regulation by atresia of Atlantic herring ( Clupea harengus) in relation to body condition throughout the maturation cycle

    Science.gov (United States)

    Kurita, Y.; Meier, S.; Kjesbu, O. S.

    2003-05-01

    Oocyte growth, fecundity regulation by resorption of vitellogenic oocytes (atresia), and condition effects on fecundity for repeat spawners (≥32 cm in total length (TL)) of Norwegian spring-spawning (NSS) herring, Clupea harengus, were examined using samples collected periodically from July 1998 to February/March 1999. This period almost covered the maturation cycle of the fish, i.e., 67% (30/45) of the examined fish had started vitellogenesis as early as in July and 18% (7/40) showed hydrated oocytes in February/March. Oocyte diameter increased linearly over time. Average fecundity of 34 cm TL fish decreased by about 56% from 113 000 in July to 49 200 in February/March. Both prevalence of atresia (portion of fish with atresia) and average relative intensity of atresia (prevalence multiplied by geometric mean of relative intensity of atresia among only fish with atresia) were highest in October and November, i.e., following the summer feeding season when fish started to rely on accumulated body reserves. Estimated duration of atresia was 4.5, 6.8, 6.1 and 7.2 d for July-October, October-November, November-January and January-February/March, respectively. Atresia seemed to be limited to oocytes smaller than 1100 μm, which had lipid and solids (protein, ash and carbohydrates) contents that were only half of the values observed for fully matured oocytes (1400-1550 μm). Both the timing of intensive resorption and size of atretic oocytes seemed to optimise fecundity given available energetic reserves. There appeared a highly significant, positive correlation between ovary dry weight, a proxy of reproductive investment, and muscle dry weight condition factor (MDCF; 100×muscle dry weight/TL 3) in the later maturation cycle. Relative fecundity also showed a significant, positive correlation with MDCF in February/March. In conclusion, this study demonstrates important energetic and cellular mechanisms for regulation of reproductive investment in NSS herring females, a

  20. Di(2-ethylhexyl) phthalate inhibits antral follicle growth, induces atresia, and inhibits steroid hormone production in cultured mouse antral follicles

    Science.gov (United States)

    Hannon, Patrick R.; Brannick, Katherine E.; Wang, Wei; Gupta, Rupesh K.; Flaws, Jodi A.

    2015-01-01

    Di(2-ethylhexyl) phthalate (DEHP) is a ubiquitous environmental toxicant found in consumer products that causes ovarian toxicity. Antral follicles are the functional ovarian units and must undergo growth, survival from atresia, and proper regulation of steroidogenesis to ovulate and produce hormones. Previous studies have determined that DEHP inhibits antral follicle growth and decreases estradiol levels in vitro; however, the mechanism by which DEHP elicits these effects is unknown. The present study tested the hypothesis that DEHP directly alters regulators of the cell cycle, apoptosis, and steroidogenesis to inhibit antral follicle functionality. Antral follicles from adult CD-1 mice were cultured with vehicle control or DEHP (1-100μg/ml) for 24-96 hr to establish the temporal effects of DEHP on the follicle. Following 24-96 hr of culture, antral follicles were subjected to gene expression analysis, and media were subjected to measurements of hormone levels. DEHP increased the mRNA levels of cyclin D2, cyclin dependent kinase 4, cyclin E1, cyclin A2, and cyclin B1 and decreased the levels of cyclin-dependent kinase inhibitor 1A prior to growth inhibition. Additionally, DEHP increased the mRNA levels of BCL2-associated agonist of cell death, BCL2-associated X protein, BCL2-related ovarian killer protein, B-cell leukemia/lymphoma 2, and Bcl2-like 10, leading to an increase in atresia. Further, DEHP decreased the levels of progesterone, androstenedione, and testosterone prior to the decrease in estradiol levels, with decreased mRNA levels of side-chain cleavage, 17α-hydorxylase-17,20-desmolase, 17β-hydroxysteroid dehydrogenase, and aromatase. Collectively, DEHP directly alters antral follicle functionality by inhibiting growth, inducing atresia, and inhibiting steroidogenesis. PMID:25701202