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Congenital malformations

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https://www.readbyqxmd.com/read/27922232/changing-epidemiology-of-non-cystic-fibrosis-bronchiectasis
#1
Semiha Bahçeci, Sait Karaman, Hikmet Tekin Nacaroğlu, Selçuk Yazıcı, Saniye Girit, Şule Ünsal-Karkıner, Demet Can
Non-cystic fibrosis bronchiectasis again becomes a major health problem due to inappropriate antibiotic use and increasing frequency of protracted bacterial bronchitis. The aim was to determine the changes in etiology of bronchiectasis. Patients who admitted to Behçet Uz Children Hospital between 2005 and 2015 (n=110) were retrospectively examined. The etiology of bronchiectasis was detected as; primary ciliary dyskinesia 26.4%, protracted bacterial bronchitis 22.8%, primary immune deficiency 11.8%, bronchiolitis obliterans 8...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#2
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920266/variability-of-ponto-cerebellar-fibers-by-diffusion-tensor-imaging-in-diverse-brain-malformations
#3
Nancy K Rollins, Timothy N Booth, Maria H Chahrour
To describe pontine axonal anomalies across diverse brain malformations. Institutional review board-approved review of magnetic resonance imaging (MRI) and genetic testing of 31 children with brain malformations and abnormal pons by diffusion tensor imaging. Anomalous dorsal pontocerebellar tracts were seen in mid-hindbrain anomalies and in diffuse malformations of cortical development including lissencephaly, gyral disorganization with dysplastic basal ganglia, presumed congenital fibrosis of extraocular muscles type 3, and in callosal agenesis without malformations of cortical development...
December 5, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27919838/a-cgh-array-procedure-to-detect-pax6-gene-structural-defects
#4
Alessandra Franzoni, Patrizia Dello Russo, Federica Baldan, Angela Valentina D'Elia, Cinzia Puppin, Silvana Penco, Giuseppe Damante
Aniridia is a rare congenital disease characterized by eye development defects, in which the more evident clinical manifestation is iris absence or malformation. In most of the patients, aniridia is associated to PAX6 gene point mutations or deletions. When these deletions are large and involve other genes, a more complex disease, named WAGR syndrome, arises. In order to develop a new tool to analyze aniridia and WAGR subjects, a CGH array (CGHa) of the PAX6 genomic region was set up. We generated a custom microarray kit using an oligonucleotide-based platform that allows high resolution molecular profiling of genomic aberrations in 20 Mb of the 11p13 chromosomal region, centered on the PAX6 gene...
December 2, 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27919468/somatic-gnaq-mutation-is-enriched-in-brain-endothelial-cells-in%C3%A2-sturge-weber-syndrome
#5
Lan Huang, Javier A Couto, Anna Pinto, Sanda Alexandrescu, Joseph R Madsen, Arin K Greene, Mustafa Sahin, Joyce Bischoff
BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the GNAQ mutation. The purpose of this study is to determine whether the GNAQ mutation is also enriched in endothelial cells in affected SWS brain...
October 21, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27916008/facial-nerve-anomalies-in-paediatric-cochlear-implant-candidates-radiological-evaluation
#6
F B Palabiyik, K Hacikurt, Z Yazici
BACKGROUND: Pre-operative radiological identification of facial nerve anomalies can help prevent intra-operative facial nerve injury during cochlear implantation. This study aimed to evaluate the incidence and configuration of facial nerve anomalies and their concurrence with inner-ear anomalies in cochlear implant candidates. METHODS: Inner-ear and concomitant facial nerve anomalies were evaluated by magnetic resonance imaging and temporal high-resolution computed tomography in 48 children with congenital sensorineural hearing loss who were cochlear implant candidates...
December 5, 2016: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/27912790/fetal-malformation-in-maternal-toxoplasma-and-rubella-co-infection-in-cameroon-a-case-report
#7
Andreas Ateke Njoh, Sarah Namondo Njoh, Messang Blandine Abizou
BACKGROUND: There has been a recent increase in the number of newborns with brain malformations due to congenital infections, but the impact of these diseases remains largely under ascertained in middle-income and low-income countries. This case report presents a fetal anencephaly following maternal toxoplasma and rubella co-infection in a resource-limited setting and the challenges faced by the patient and the health care provider in the management of the condition. CASE PRESENTATION: A 25-year-old black Cameroonian woman of Bakossi origin, gravida3 para1010, presented with a positive rubella and toxoplasma immunoglobulin G serologic test at 21 weeks of pregnancy; she could not benefit from a fetal morphologic ultrasound partly because there was none at the site of her antenatal clinic and because there were accessibility constraints getting to the nearest referral hospital approximately 100 km away...
December 3, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27908722/unexpected-regulation-of-mirna-abundance-during-adaptation-of-early-somite-mouse-embryos-to-diabetic-pregnancy
#8
J Zhao, T B M Hakvoort, A Jongejan, J M Ruijter, A H C van Kampen, W H Lamers
Maternal diabetes is one of major causes of congenital malformations in offspring, but the underlying mechanism is still unclear. MiRNAs play an important role in transcriptional and post-transcriptional regulation of gene expression. However, no miRNA expression profiling of hyperglycemic offspring are thus far available. Female mice were made diabetic with streptozotocin, treated with slow-release insulin tablets, and mated. MiRNA expression profiling with Next Generation Sequencing on the SOLiD5 platform was performed on 8 control and 5 hyperglycemic embryonic day (ED)8...
November 28, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27908676/effect-of-selective-dorsal-rhizotomy-on-daily-care-and-comfort-in-non-walking-children-and-adolescents-with-severe-spasticity
#9
A I Buizer, P E M van Schie, E A M Bolster, W J van Ouwerkerk, R L Strijers, L A van de Pol, A Stadhouder, J G Becher, R J Vermeulen
BACKGROUND: In non-walking children with severe spasticity, daily care can be difficult and many patients suffer from pain. Selective dorsal rhizotomy (SDR) reduces spasticity in the legs, and therefore has the potential to improve daily care and comfort. AIM: To examine effects of SDR on daily care and comfort in non-walking children with severe spasticity due to different underlying neurological conditions. METHODS: Medical history, changes in daily care and comfort and satisfaction with outcome were assessed retrospectively in non-walking children who underwent SDR in our center, with a mean follow-up of 1y 7m (range 11m-4y 3m)...
October 22, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27906905/description-of-13-infants-born-during-october-2015-january-2016-with-congenital-zika-virus-infection-without-microcephaly-at-birth-brazil
#10
Vanessa van der Linden, André Pessoa, William Dobyns, A James Barkovich, Hélio van der Linden Júnior, Epitacio Leite Rolim Filho, Erlane Marques Ribeiro, Mariana de Carvalho Leal, Pablo Picasso de Araújo Coimbra, Maria de Fátima Viana Vasco Aragão, Islane Verçosa, Camila Ventura, Regina Coeli Ramos, Danielle Di Cavalcanti Sousa Cruz, Marli Tenório Cordeiro, Vivian Maria Ribeiro Mota, Mary Dott, Christina Hillard, Cynthia A Moore
Congenital Zika virus infection can cause microcephaly and severe brain abnormalities (1). Congenital Zika syndrome comprises a spectrum of clinical features (2); however, as is the case with most newly recognized teratogens, the earliest documented clinical presentation is expected to be the most severe. Initial descriptions of the effects of in utero Zika virus infection centered prominently on the finding of congenital microcephaly (3). To assess the possibility of clinical presentations that do not include congenital microcephaly, a retrospective assessment of 13 infants from the Brazilian states of Pernambuco and Ceará with normal head size at birth and laboratory evidence of congenital Zika virus infection was conducted...
December 2, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27905962/identifying-potential-differences-in-cause-of-death-coding-practices-across-russian-regions
#11
Inna Danilova, Vladimir M Shkolnikov, Dmitri A Jdanov, France Meslé, Jacques Vallin
BACKGROUND: Reliable and comparable data on causes of death are crucial for public health analysis, but the usefulness of these data can be markedly diminished when the approach to coding is not standardized across territories and/or over time. Because the Russian system of producing information on causes of death is highly decentralized, there may be discrepancies in the coding practices employed across the country. In this study, we evaluate the uniformity of cause-of-death coding practices across Russian regions using an indirect method...
March 22, 2016: Population Health Metrics
https://www.readbyqxmd.com/read/27904607/a-bilobed-testicle-diagnosed-with-ultrasound-in-an-18-year-old-boy
#12
Farzaneh Hekmatnia, Mohammad Momeni, Ali Hekmatnia, Mohammad Mehdi Baradaran Mahdavi
Bilobed testicle is a very rare congenital malformation with an unknown etiology. Herein, we report an 18-year-old boy presented with a right-bilobed testicle mimicking a testicular tumor. The present case highlights the importance of considering bilobed testicle as a valuable differential diagnosis of testicular mass to prevent unnecessary surgery. Furthermore, the case could provide more information about presentation and management of bilobed testicle.
2016: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/27903011/transition-risk-assessment-score-to-stratify-health-care-needs-and-interventions-in-adolescents-with-anorectal-malformations-a-pilot-study
#13
Martin J Connor, Laurie Rigueros Springford, Stefano Giuliani
Introduction Anorectal malformations (ARMs) are a complex collection of congenital disorders of the anus, rectum, and genitourinary system with possible active morbidities beyond adolescence. Aims To create the first evidence-based inclusive transition risk assessment score (TRAS) to stratify health care needs and interventions in teenagers with ARM transitioning to adult health care. Method MEDLINE, EMBASE, and the Cochrane Library were searched electronically for original articles containing published scoring systems evaluating children with ARM from January 1, 1990 to December 31, 2013...
November 30, 2016: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27902933/the-fda-approved-drug-sofosbuvir-inhibits-zika-virus-infection
#14
Kristen M Bullard-Feibelman, Jennifer Govero, Zhe Zhu, Vanessa Salazar, Milena Veselinovic, Michael S Diamond, Brian J Geiss
The rapidly expanding Zika virus (ZIKV) epidemic has affected thousands of individuals with severe cases causing Guillain-Barré syndrome, congenital malformations, and microcephaly. Currently, there is no available vaccine or therapy to prevent or treat ZIKV infection. We evaluated whether sofosbuvir, an FDA-approved nucleotide polymerase inhibitor for the distantly related hepatitis C virus, could have antiviral activity against ZIKV infection. Cell culture studies established that sofosbuvir efficiently inhibits replication and infection of several ZIKV strains in multiple human tumor cell lines and isolated human fetal-derived neuronal stem cells...
November 27, 2016: Antiviral Research
https://www.readbyqxmd.com/read/27899861/echocardiographic-follow-up-of-patent-foramen-ovale-and-the-factors-affecting-spontaneous-closure
#15
Ali Yildirim, Alperen Aydin, Tevfik Demir, Fatma Aydin, Birsen Ucar, Zubeyir Kilic
BACKGROUND: The aim of the present study was to evaluate the echocardiographic follow-up of patent foramen ovale, which is considered a potential etiological factor in various diseases, and to determine the factors affecting spontaneous closure. METHODS: Between January 2000 and June 2012, records of 918 patients with patent foramen ovale were retrospectively reviewed. Patency of less than 3 mm around the fossa ovalis is called patent foramen ovale. Patients with cyanotic congenital heart diseases, severe heart valve disorders and severe hemodynamic left to right shunts were excluded from the study...
November 2016: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/27899401/neonatal-and-childhood-neurodevelopmental-health-and-educational-outcomes-of-children-exposed-to-antidepressants-and-maternal-depression-during-pregnancy-protocol-for-a-retrospective-population-based-cohort-study-using-linked-administrative-data
#16
Deepa Singal, Marni Brownell, Dan Chateau, Chelsea Ruth, Laurence Y Katz
INTRODUCTION: Antidepressants are commonly prescribed during pregnancy; however, there are inconsistent data on the safety of these medications during the prenatal period. To address this gap, this study will investigate short-term and long-term neurodevelopmental, physical and mental health, and educational outcomes of children who have been exposed to selective serotonin reuptake inhibitors (SSRIs) or selective serotonin norepinephrine reuptake inhibitors (SNRIs) and/or maternal depression during pregnancy...
November 29, 2016: BMJ Open
https://www.readbyqxmd.com/read/27896474/worldwide-prevalence-of-adverse-pregnancy-outcomes-among-singleton-pregnancies-after-in-vitro-fertilization-intracytoplasmic-sperm-injection-a-systematic-review-and-meta-analysis
#17
REVIEW
Jia-Bi Qin, Xiao-Qi Sheng, Di Wu, Shi-You Gao, Yi-Ping You, Tu-Bao Yang, Hua Wang
PURPOSE: The worldwide prevalence of adverse pregnancy outcomes (APOs) in singleton pregnancies after in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) is suggested to vary; however, a complete overview is missing. The aim of this review is to estimate the worldwide prevalence of APOs associated with IVF/ICSI singleton pregnancies. METHODS: PubMed, Google Scholar, Cochrane Libraries, and Chinese databases were searched for studies assessing APOs among IVF/ICSI singleton births through March 2016...
November 28, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27896282/a-patient-with-lissencephaly-developmental-delay-and-infantile-spasms-due-to-de-novo-heterozygous-mutation-of-kif2a
#18
Guoling Tian, Ana G Cristancho, Holly A Dubbs, Grant T Liu, Nicholas J Cowan, Ethan M Goldberg
BACKGROUND: Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α- or β-tubulin or a spectrum of proteins involved in the regulation of microtubule dynamics lead to clinically devastating malformations of cortical development, including lissencephaly. METHODS: This is a single case report or a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, and undertook a neurogenetic workup...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896167/imperforate-anus-with-jejunal-atresia-complicated-by-intestinal-volvulus-a-case-report
#19
Hae Soo Joung, Alexandra Leon Guerrero, Sandra Tomita, Keith A Kuenzler
Anorectal malformations (ARMs) commonly co-occur with other congenital anomalies, particularly VACTERL (vertebral, anorectal, cardiac, tracheal, esophageal, renal, limb, and duodenal) associations. However, this collection of associations is not comprehensive, and other concurrent anomalies may exist that can be missed during the standard work-up of patients with ARMs. We present a rare case of a neonate with a low ARM with concurrent jejuno-ileal atresia that was diagnosed after the correction of the ARM when the patient developed segmental volvulus...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27896163/varied-presentation-of-congenital-segmental-dilatation-of-the-intestine-in-neonates-report-of-three-cases
#20
Binod Kumar Rai, Bilal Mirza, Imran Hashim, Muhammad Saleem
Congenital segmental dilatation (CSD) of the intestine is a rare developmental anomaly characterized by sharply demarcated dilatation of a gastrointestinal segment and may present with intestinal obstruction. We report three cases of CSD of the intestine in neonates with varied presentation. First patient was mistaken as pneumoperitoneum on abdominal radiograph, which led to initial abdominal drain placement. The 2nd patient was a case of anorectal malformation associated with congenital pouch colon (CPC) and CSD of ileum; and the third case presented as neonatal intestinal obstruction and found to have CSD of ileum...
October 2016: Journal of Neonatal Surgery
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