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Anal atresia

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https://www.readbyqxmd.com/read/29588261/complete-penile-duplication-with-structurally-normal-penises-a-case-report
#1
Ahsen Karagözlü Akgül, Murat Uçar, Fatih Çelik, İrfan Kırıştıoğlu, Nizamettin Kılıç
BACKGROUND: Diphallia is a very rare anomaly and seen once in every 5.5 million live births. True diphallia with normal penile structures is extremely rare (1,2,3,4,5,6,7). We present the surgical management of a 4-year-old patient with complete penile duplication without any penile or urethral pathology. CASE REPORT: The patient's first physical examination revealed complete penile duplication, urine flow from both penises, meconium flow from right urethra, and anal atresia...
March 28, 2018: Balkan Medical Journal
https://www.readbyqxmd.com/read/29518772/two-cases-with-ring-chromosome-13-at-either-end-of-the-phenotypic-spectrum
#2
Seda Çakmaklı, Tufan Çankaya, Semra Gürsoy, Altuğ Koç, Özgür Kırbıyık, Özge A Kılıçarslan, Erdener Özer, Derya Erçal, Özlem G Bozkaya
Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum...
March 9, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29499739/isolated-choanal-and-gut-atresias-pathogenetic-role-of-serine-protease-inhibitor-type-2-spint2-gene-mutations-unlikely
#3
Christian Niederwanger, Silvia Lechner, Lisa König, Andreas R Janecke, Claus Pototschnig, Beatrice Häussler, Sabine Scholl-Bürgi, Thomas Müller, Peter Heinz-Erian
BACKGROUND: Choanal (CA) and gastrointestinal atresias (GA) are an important feature of syndromic congenital sodium diarrhea (sCSD), a disorder recently associated with mutations in the gene for serine protease inhibitor type 2 (SPINT2). It is, however, not known whether isolated non-syndromic CA and GA themselves might result from SPINT2 mutations. METHODS: We performed a prospective cohort study to investigate 19 CA and/or GA patients without diarrhea ("non-sCSD") for potential sCSD characteristic clinical features and SPINT2 mutations...
March 2, 2018: European Journal of Medical Research
https://www.readbyqxmd.com/read/29373345/basic-knowledge-of-tracheoesophageal-fistula-and-esophageal-atresia
#4
Sura Lee
BACKGROUND: Tracheoesophageal fistula (TEF) and esophageal atresia (EA) are rare anomalies in neonates. Up to 50% of neonates with TEF/EA will have Vertebral anomalies (V), Anal atresia (A), Cardiac anomalies (C), Tracheoesophageal fistula (T), Esophageal atresia (E), Renal anomalies (R), and Limb anomalies (L) (VACTERL) association, which has the potential to cause serious morbidity. PURPOSE: Timely management of the neonate can greatly impact the infant's overall outcome...
February 2018: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/29314095/intra-uterine-sludge-does-not-rule-out-anal-atresia
#5
Yechiel Burke, Yinon Gilboa, Moshe Bronshtein
No abstract text is available yet for this article.
February 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29261186/genomic-study-of-severe-fetal-anomalies-and-discovery-of-greb1l-mutations-in-renal-agenesis
#6
Sarah Boissel, Catherine Fallet-Bianco, David Chitayat, Valérie Kremer, Christina Nassif, Françoise Rypens, Marie-Ange Delrue, Dorothée Dal Soglio, Luc L Oligny, Natalie Patey, Elisabeth Flori, Mireille Cloutier, David Dyment, Philippe Campeau, Aspasia Karalis, Sonia Nizard, William D Fraser, François Audibert, Emmanuelle Lemyre, Guy A Rouleau, Fadi F Hamdan, Zoha Kibar, Jacques L Michaud
PurposeFetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies.MethodsWe performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), brain anomalies, suspected ciliopathies, multiple major malformations, and akinesia...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29232005/x-linked-vacterl-h-caused-by-deletion-of-exon-3-in-fancb-a-case-report
#7
Norikazu Watanabe, Seiji Tsutsumi, Yuki Miyano, Hidenori Sato, Satoru Nagase
No abstract text is available yet for this article.
December 12, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/29198537/healthcare-utilization-and-comorbidities-associated-with-anorectal-malformations-in-the-united-states
#8
Karlo Kovacic, Sravan R Matta, Katja Kovacic, Casey Calkins, Ke Yan, Manu R Sood
OBJECTIVE: To determine nationwide prevalence and healthcare utilization in children with anorectal malformations and associated anomalies over a 6-year period. STUDY DESIGN: We used the Kids' Inpatient Database for the years 2006, 2009, and 2012 for data collection. International Classification of Diseases, Ninth Revision codes were used to identify patients with anorectal malformations and associated anomalies. RESULTS: A total of 2396 children <2 years of age with anorectal malformations were identified using weighted analysis; 54...
March 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/28672091/young-children-with-severe-congenital-malformations-vacterl-expressed-mixed-feelings-about-their-condition-and-worries-about-needles-and-anaesthesia
#9
A-M Kassa, G Engvall, H Engstrand Lilja
AIM: Our knowledge of the perceptions that children with severe congenital malformations have of their health, treatment and how to improve hospital care is limited. This study focused on patients with vertebral defects, anal atresia, cardiac defects, tracheo-oesophageal fistula, renal anomalies and limb abnormalities (VACTERL). METHODS: We interviewed 10 children aged five to eight years with VACTERL association who were treated in a Swedish tertiary paediatric surgical centre, using a computer-assisted technique called In My Shoes...
July 3, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28640129/vacter-syndrome-with-situs-inversus-totalis-case-report-and-a-new-syndrome
#10
Wei Wu, Zhibao Lv, Weijue Xu, Jiangbing Liu, Wei Jia
INTRODUCTION: The association of situs inversus totalis (SIT) and VACTERL syndrome an extremely rare coincidence. PATIENTS: The patient was first diagnosed as simple SIT with lumbosacral neoplasms according to the prenatal magnetic resonance imaging (MRI) examination; however, the local hospital ignored the important to physical examination so that missed anal atresia with fistula. The patient was presented to our hospital owing to constipation for 1 week. And then, she was diagnosed as VACTER syndrome with situs inversus totalis...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28611930/vestibular-derangement-and-motion-intolerance-in-vater-association
#11
Orit Samuel, Avi Shupak, Ayelet Eran, Dror Tal
VATER association is a nonrandom occurrence of congenital malformations: vertebral defects, anal atresia, tracheoesophageal fistula, renal defects, and radial bone anomalies. We report the case of a 19-year-old man with a childhood diagnosis of VATER association, who presented to the motion sickness clinic with severe seasickness. We discuss the clinical and laboratory diagnosis of vestibular pathophysiology, which was confirmed by MRI of lateral semicircular canal and vestibule dysplasia. We suggest the possibility of vestibular involvement as part of the developmental field defect associated with VATER syndrome, which hitherto has rarely been reported...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28601898/varied-facets-of-rectal-atresia-and-rectal-stenosis
#12
Shilpa Sharma, Devendra K Gupta
Rectal atresia (RA) and rectal stenosis (RS) are rare anomalies with varied treatment options. A thorough literature review was done on reported cases/series of RA and RS. Based on evidence from cases managed over last 15 years, new insights into embryology were hypothesized. A comprehensive review was compiled with updated knowledge on diagnosis and management. RA is classified into five types I: II: III: IV: V as RS: RA with septal defect: RA with a fibrous cord between two atretic ends: RA with a gap: Multiple RA and/or RS...
August 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28446132/pcsk5-is-required-in-the-early-cranio-cardiac-mesoderm-for-heart-development
#13
Dorota Szumska, Milena Cioroch, Angela Keeling, Annik Prat, Nabil G Seidah, Shoumo Bhattacharya
BACKGROUND: Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (VACTERL association - Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects)...
April 26, 2017: BMC Developmental Biology
https://www.readbyqxmd.com/read/28393221/chromosome-13q-deletion-syndrome-involving-13q31%C3%A2-qter-a-case-report
#14
Yue-Ping Wang, Da-Jia Wang, Zhi-Bin Niu, Wan-Ting Cui
Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of the deleted region. The present study investigated 2 patients with 13q terminal (13qter) deletion syndrome, which manifested as anal atresia with rectoperineal fistula, complex type congenital heart disease, esophageal hiatus hernia with gastroesophageal reflux, facial anomalies and developmental and mental retardation. Array comparative genomic hybridization identified 2 regions of deletion on chromosome 13q31‑qter; 20...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28328532/cushing-s-syndrome-in-infancy-due-to-ectopic-acth-secretion-by-a-sacro-coccygeal-teratoma
#15
Marta Rydzewska, Maryna Krawczuk-Rybak, Adrianna Zajkowska, Natalia Jurczuk, Dariusz Polnik, Mieczysław Szalecki, Elżbieta Moszczyńska, Martin O Savage, Artur Bossowski
BACKGROUND: Adenocorticotropic hormone (ACTH)-dependent Cushing's syndrome in infancy is extremely rare. We describe the case of a sacro-coccygeal ectopic ACTH-secreting immature teratoma in an infant who also presented the triad of defects characteristic of Currarino syndrome. CASE PRESENTATION: A girl was born with a large immature teratoma in the sacro-coccygeal region associated with anal atresia. At the age of 7 days, the concentration of α-fetoprotein (AFP) was above the age-specific normal range...
April 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28291300/-possible-relation-between-antenatal-venlafaxine-use-and-vacterl-association-in-a-newborn-a-case-report
#16
Muammer Özgür Çevik, Mustafa Çelik, İbrahim Hakan Bucak, Behice Han Almış, Mehmet Turğut
Major depressive disorder is common during antenatal period and many women are prescribed antidepressant drugs despite no antidepressant can be regarded as definitely safe in pregnancy. Previous studies have suggested links between gestational use of selective serotonin reuptake inhibitors (SSRI) or serotonin and norepinephrine reuptake inhibitors (SNRI) and certain birth defects. VACTERL association is a rare group of congenital malformations which were observed to occur together more often than would be expected by chance...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28191911/mutations-of-myh14-are-associated-to-anorectal-malformations-with-recto-perineal-fistulas-in-a-small-subset-of-chinese-population
#17
Zhongxian Zhu, Lei Peng, Guanglin Chen, Weiwei Jiang, Ziyang Shen, Chunxia Du, Rujin Zang, Yang Su, Hua Xie, Hongxing Li, Yankai Xia, Weibing Tang
BACKGROUND: Anorectal malformations (ARMs) are among the most commonly congenital abnormalities of distal hindgut development, ranging from anal stenosis to anal atresia with or without fistulas and persistent cloaca. The etiology remains elusive for most ARM cases and the majority of genetic studies on ARMs were based on a candidate gene approach. MATERIALS AND METHODS: In all eight family members of a non-consanguineous Chinese family, we performed whole-exome sequencing...
February 13, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28121970/resorbable-mesh-cranioplasty-repair-of-bilateral-cerebrospinal-fluid-leaks-following-pediatric-simultaneous-bilateral-auditory-brainstem-implant-surgery
#18
Giacomo Colletti, Marco Mandalà, Vittorio Colletti, Alberto Deganello, Fabiana Allevi, Liliana Colletti
OBJECTIVE: To present a child with cochlear nerve deficiency (CND) who received simultaneous bilateral simultaneous auditory brainstem implants (BS-ABI) and subsequently presented with bilateral cerebrospinal fluid (CSF) leaks unresponsive to standard treatments. To propose a novel rigid retrosigmoid cranioplasty for treating and preventing CSF leaks in children at high risk for this complication. PATIENT: A 3.5-year-old child with CND, vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities, coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality, Arnold Chiari malformation, previous treated tracheo-esophageal fistula underwent BS-ABI...
April 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28116474/prenatal-magnetic-resonance-and-ultrasonographic-findings-in-small-bowel-obstruction-imaging-clues-and-postnatal-outcomes
#19
Eva I Rubio, Anna R Blask, Andrea T Badillo, Dorothy I Bulas
BACKGROUND: Prenatal small-bowel obstruction can result from single or multiple atresias, and it can be an isolated abnormality or part of a syndrome. It is sometimes the first manifestation of cystic fibrosis. Accurate prediction of the level of obstruction and length of bowel affected can be difficult, presenting a challenge for counseling families and planning perinatal management. OBJECTIVE: To review the prenatal US and MRI findings of small-bowel obstruction and to assess whether fetal MRI adds information that could improve prenatal counseling and perinatal management...
April 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28070723/anorectal-malformations-definitive-surgery-during-adulthood
#20
M P J Lopez, V I Encila, S G Alamo, H J Monroy, M F T Roxas
BACKGROUND: Anorectal malformations (ARMs) are rarely seen in adults, since majority of cases are corrected in infancy or childhood. The aim of this study was to describe the profile of patients who underwent definitive surgery to correct their ARM in adulthood, and to discuss the outcomes of surgery (morbidity, mortality, and function). METHODS: This retrospective study included patients 18 years old and above, managed surgically by the Division of Colorectal Surgery at the Philippine General Hospital, University of the Philippines, Manila, from January 1, 2004, to December 31, 2012...
February 2017: Techniques in Coloproctology
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