335,556 results match your criteria Congenital Patterned Leukodermas


[The molecular mechanisms underpinning auditory neuropathy].

Authors:
K Wang L Luo Z Z He

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2019 Feb;54(2):149-156

Department of Biomedical Sciences, Creighton University, Omaha, Nebraska 68178, USA.

Auditory neuropathy (AN) is a hearing disorder where cochlear inner hair cell and/or the auditory nerve function is disrupted while outer hair cell function is normal. It can affect people of all ages, from infancy to adulthood. People with auditory neuropathy may have normal hearing threshold, or hearing loss ranging from mild to severe; they always have poor speech-perception abilities. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1673-0860.2019.02.013DOI Listing
February 2019

Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry.

Clin Chim Acta 2019 Feb 15. Epub 2019 Feb 15.

Laboratório de Síntese e Análise de Biomoléculas - LSAB, Instituto de Química - IQ, Universidade de Brasília - UnB, Brasília, DF, Brazil. Electronic address:

Background: Type II Congenital Disorders of Glycosylation (CDG-II) are a group of diseases with challenging diagnostics characterized by defects in the processing of glycans in the Golgi apparatus. Mass Spectrometry (MS) has been a valuable tool in the definition of CDG-II subtypes. While some CDG-II subtypes are associated with specific N-glycan structures, others only produce changes in relative levels, reinforcing the demand for quantification methods. Read More

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http://dx.doi.org/10.1016/j.cca.2019.02.013DOI Listing
February 2019

Recombinant human granulocyte- colony stimulating factor in women with unexplained recurrent pregnancy losses: a randomized clinical trial.

Hum Reprod 2019 Feb 18. Epub 2019 Feb 18.

Nora Therapeutics, Inc., 530 Lytton Avenue, 2nd Floor, Palo Alto, CA, USA.

Study Question: Does administration of recombinant human granulocyte colony stimulating factor (rhG-CSF) in the first trimester improve pregnancy outcomes, among women with a history of unexplained recurrent pregnancy loss?

Summary Answer: rhG-CSF administered in the first trimester of pregnancy did not improve outcomes among women with a history of unexplained recurrent pregnancy loss.

What Is Known Already: The only previous randomized controlled study of granulocyte colony stimulating factor in recurrent miscarriage in 68 women with unexplained primary recurrent miscarriage found a statistically significant reduction in miscarriage and improvement in live birth rates. A further four observational studies where G-CSF was used in a recurrent miscarriage population were identified in the literature, two of which confirmed statistically significant increase in clinical pregnancy and live birth rates. Read More

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http://dx.doi.org/10.1093/humrep/dey393DOI Listing
February 2019

[Biological function of endoecology (cleanliness of intercellular environment) realize two biolocical reactions: excretion reaction and inflammation reaction - utilization in vivo, in situ catabolites of the large molecular mass.]

Authors:
V N Titov

Klin Lab Diagn 2018 ;63(11):668-676

National Medical Research Center of Cardiology, Ministry of Health, 121552, Moscow, Russia.

For the biological functions of trophology (nutrition) and homeostasis, we believe that the third place is occupied by the function of endoecology: in a single pool of intercellular environment in vivo it must be "pure". The biological function of endoecology, realizes two biological reactions: the reaction of excretion and the reaction of inflammation. The biological reaction of excretion is the filtration of phlogogens of a small mol. Read More

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http://dx.doi.org/10.18821/0869-2084-2018-63-11-668-676DOI Listing
January 2018

Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms.

BJU Int 2019 Feb 18. Epub 2019 Feb 18.

Unité de Chirurgie Viscérale et Urologique Pédiatrique, Hôpital Lapeyronie - CHU Montpellier, France, et Université de Montpellier, France.

Objectives: 1-To report the clinical spectrum of genital defects diagnosed before birth, 2- to identify predictive factors for severe phenotypes at birth 3- to determine the rate of associated malformations.

Methods: A retrospective study (2008-2017) of 4580 fetuses identified prenatally with abnormalities evaluated by our Reference Center for Fetal Medicine included cases with fetal sonographic finding of abnormal genitalia or uncertainty of fetal sex determination. Familial, prenatal and postnatal data were collected through a standardized questionnaire. Read More

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http://dx.doi.org/10.1111/bju.14714DOI Listing
February 2019

Antibiotic treatment for newborns with congenital syphilis.

Cochrane Database Syst Rev 2019 Feb 15;2:CD012071. Epub 2019 Feb 15.

C/o Cochrane Pregnancy and Childbirth Group, Department of Women's and Children's Health, The University of Liverpool, First Floor, Liverpool Women's NHS Foundation Trust, Crown Street, Liverpool, UK, L8 7SS.

Background: Congenital syphilis continues to be a substantial public health problem in many parts of the world. Since the first use of penicillin for the treatment of syphilis in 1943, which was a notable early success, it has remained the preferred and standard treatment including for congenital syphilis. However, the treatment of congenital syphilis is largely based on clinical experience and there is extremely limited evidence on the optimal dose or duration of administration of penicillin or the use of other antibiotics. Read More

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http://dx.doi.org/10.1002/14651858.CD012071.pub2DOI Listing
February 2019

The role of diagnostic cardiac catheterization for children with congenital heart diseases: local experience.

Authors:
Reham Wagdy

Arch Med Sci Atheroscler Dis 2018 28;3:e72-e79. Epub 2018 Jun 28.

Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.

Introduction: Despite the development of non-invasive tools of investigations for congenital heart diseases (CHDs), still the role of diagnostic cardiac catheterization (DCC) cannot be undermined. The study aimed to analyze the clinical profile of indicated CHDs cases at our center for DCC to evaluate the contribution of DCC in patients' management plans.

Material And Methods: The study checked files of cases performed DCC between 2011 and 2012 at the pediatric catheterization unit of Alexandria University Children's Hospital by the same operator. Read More

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http://dx.doi.org/10.5114/amsad.2018.76824DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374569PMC

Bile Acid Synthesis Defect and Hyperinsulinism.

ACG Case Rep J 2018 5;5:e89. Epub 2018 Dec 5.

Department of Pediatric Gastroenterology, University of North Carolina Children's Hospital, Chapel Hill, NC.

Congenital defects of bile acid synthesis are rare disorders that cause progressive liver dysfunction. Prolonged neonatal hyperinsulism (PNH) is a separate entity that leads to persistent hypoglycemia secondary to stress. We present a 4-month-old infant who presented with liver failure secondary to a bile acid synthesis defect. Read More

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http://dx.doi.org/10.14309/crj.2018.89DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358580PMC
December 2018

Agenesis of hepatic lobes in a dog.

Open Vet J 2018 27;8(4):485-488. Epub 2018 Dec 27.

Department of Veterinary Surgery, Joint Faculty of Veterinary Medicine, Yamaguchi University, 1677-1, Yoshida, Yamaguchi 753-8511, Japan.

Agenesis of a hepatic lobe is an extremely rare congenital anomaly and only one dog have been reported in veterinary literature. We encountered a dog with this anomaly diagnosed by Computed tomography (CT) and portography. A two-year-old, 6. Read More

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http://dx.doi.org/10.4314/ovj.v8i4.21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356100PMC
December 2018

An unusual variant of scimitar syndrome predisposing to recurrent pneumonia.

Respir Med Case Rep 2019 23;26:240-243. Epub 2019 Jan 23.

Division of Pulmonary Medicine, Mayo Clinic, Phoenix, AZ, USA.

Scimitar syndrome is a rare constellation of congenital conditions pertaining to partial anomalous pulmonary venous return. Radiographically, these anomalous pulmonary veins can resemble a scimitar, and have heterogeneous clinical presentations. We present an unusual case of scimitar syndrome with associated recurrent pneumonia. Read More

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http://dx.doi.org/10.1016/j.rmcr.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366150PMC
January 2019

Description of an Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings.

J Pediatr Genet 2019 Mar 15;8(1):33-37. Epub 2018 Sep 15.

Second Department of Pediatrics, School of Medicine, University General Hospital AHEPA, Aristotle University of Thessaloniki, Thessaloniki, Greece.

We describe the case of a 5-year-old girl with severe congenital neutropenia presenting with recurrent skin and respiratory infections. Sequence analysis of and HAX1 genes identified a mutation in heterozygous state in exon 2 of the gene: c.157C > G (p. Read More

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http://dx.doi.org/10.1055/s-0038-1670724DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375722PMC

Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea.

J Pediatr Genet 2019 Mar 25;8(1):24-26. Epub 2018 Aug 25.

Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences, Kaunas, Lithuania.

Congenital chloride diarrhea (CCD) is a rare disease, manifesting with secretory diarrhea and life-threatening electrolyte imbalance during infancy. The early diagnosis of CCD is therefore necessary for the adequate treatment. The long-term prognosis of properly managed CCD is favorable. Read More

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http://dx.doi.org/10.1055/s-0038-1669437DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375714PMC

Novel compound heterozygous variants in a patient with Usher syndrome type I.

Hum Genome Var 2019 28;6. Epub 2019 Jan 28.

4Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Here, we report a 12-year-old female patient with typical USH1. Targeted panel sequencing revealed compound heterozygous variants of the () gene, which confirmed the USH1 diagnosis. Read More

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http://dx.doi.org/10.1038/s41439-019-0037-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348282PMC
January 2019

Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization.

Mol Cytogenet 2019 8;12. Epub 2019 Feb 8.

1Laboratory of Human cytogenetics, Molecular Genetics and Biology of Reproduction, Farhat Hached University Hospital, Sousse, Tunisia.

Background: Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to characterize the sSMC derived from chromosome 18 by Fluorescence in situ hybridization (FISH) and Array Comparative Genomic Hybridization (aCGH). Read More

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http://dx.doi.org/10.1186/s13039-019-0414-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368812PMC
February 2019

Sprengel's deformity as congenital scapular asymmetry on bone scintigraphy.

Authors:
Mohsen Qutbi

World J Nucl Med 2019 Jan-Mar;18(1):61-62

Department of Nuclear Medicine, School of Medicine, Taleghani Educational Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Bone scintigraphy is a valuable imaging modality for a diverse range of skeletal abnormalities. Incidental findings and congenital skeletal anomalies are not uncommonly encountered. Therefore, having a substantial knowledge of these findings, even rare ones, is essential for interpreting physicians. Read More

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http://dx.doi.org/10.4103/wjnm.WJNM_1_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357712PMC
February 2019

ARE SCORING SYSTEMS USEFUL FOR PREDICTING RESULTS OF TREATMENT FOR CLUBFOOT USING THE PONSETI METHOD?

Acta Ortop Bras 2019 Jan-Feb;27(1):8-11

Masaryk University, Medical Faculty, Faculty Hospital, Children´s Medical Centre (CMC), Department of Pediatric Surgery, Orthopedics and Traumatology (DPSOT), Brno, Czech Republic.

Objective: The aim of this study was to verify whether the Pirani and Dimeglio clinical scoring systems could predict results of Ponseti therapy.

Methods: Forty-seven patients with clubfoot deformities treated with the Ponseti method were enrolled in the study. Clinical evaluation with the Pirani and Dimeglio scoring systems was performed before the treatment and after the second cast fixation. Read More

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http://dx.doi.org/10.1590/1413-785220192701189801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362704PMC
February 2019

EVALUATION OF KITE AND PONSETI METHODS IN THE TREATMENT OF IDIOPATHIC CONGENITAL CLUBFOOT.

Acta Ortop Bras 2018 ;26(6):366-369

Hospital Martagão Gesteira, Salvador, BA, Brazil.

Objective: Clubfoot is one of the most common congenital deformities affecting the musculoskeletal system. The main conservative treatment for clubfoot includes the Ponseti's and Kite's methods. This study aimed to perform a comparative evaluation of the effectiveness of the Ponseti and Kite approaches for the conservative treatment of clubfoot. Read More

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http://dx.doi.org/10.1590/1413-785220182606183925DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362682PMC
January 2018

The congenital clubfoot - immunohistological analysis of the extracellular matrix.

Orthop Res Rev 2018 23;10:55-62. Epub 2018 Aug 23.

Holger Mellerowicz, Clinic for Pediatric Orthopedics and Traumatology, Helios Klinikum Emil von Behring, Berlin, Germany.

Purpose: Congenital clubfoot is one of the most common limb disorders in humans and its etiology is still unclear. In order to better understand the pathogenesis of patients with primary clubfoot, we examined whether there are quantitative changes in the extracellular matrix (ECM; based on common interstitial collagens [C] like CI and CIII, microfilamentous collagens like CVI, noncollagenous proteins like undulin, and enzymes like matrixmetalloproteinase [MMP]-2 and tissue inhibitor of matrixmetalloproteinase [TIMP]-2 that are known to play a role in fibrogenesis and fibrolysis) of muscles involved in the foot deformity of patients with primary clubfoot corresponding to fibrosis.

Patients And Methods: Thirty patients (age ranging from 4 months to 5 years and 7 months) with primary clubfoot were examined (23 male and 7 female patients), among whom 18 patients were affected on one side and 12 affected on both sides. Read More

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http://dx.doi.org/10.2147/ORR.S156449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6209367PMC

Heterogeneity of clinical features and mutation analysis of in Han Chinese patients with congenital insensitivity to pain with anhidrosis.

J Pain Res 2019 22;12:453-465. Epub 2019 Jan 22.

Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China,

Purpose: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disorder whose core clinical features consist of no response to noxious stimuli and inability to sweat under any conditions. Our goal was to characterize the details of phenotypic and genotypic features in Chinese CIPA patients.

Patients And Methods: Personal data and clinical information were investigated by interview and physical examination. Read More

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http://dx.doi.org/10.2147/JPR.S188566DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348974PMC
January 2019

Neonate with congenital cystic adenoid malformation of lung for lobectomy: Anesthesia concerns.

J Anaesthesiol Clin Pharmacol 2018 Oct-Dec;34(4):561-562

Department of Anesthesiology, BJMC and SGH, Pune, Maharashtra, India.

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http://dx.doi.org/10.4103/joacp.JOACP_393_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360898PMC
February 2019

Endovascular treatment of a splenic vein aneurysm through a transhepatic approach.

Diagn Interv Radiol 2019 Feb 18. Epub 2019 Feb 18.

Department of Interventional Radiology, Clínica Universidad de Navarra, Pamplona, Spain.

Aneurysms of the portal vein and its branches have been rarely described. Their natural history is unknown although large ones (>3cm in diameter) have been reported to cause rupture, thrombosis, duodenal or biliary obstruction, inferior vena cava compression and/or portal hypertension. We report the case of an incidentally diagnosed 4. Read More

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http://dx.doi.org/10.5152/dir.2019.18057DOI Listing
February 2019

Congenital extraneural hemangioblastoma in a lamb.

J Vet Diagn Invest 2019 Feb 17:1040638719830464. Epub 2019 Feb 17.

Departments of Surgery (Karasu, Kuşçu).

A 1-mo-old Ivesi male lamb was presented with 2 large red masses on the skin of the left ear. The tumors were removed using gentle dissection and submitted for histologic evaluation. The tumors consisted of numerous thin-walled capillaries lined by endothelial cells and nests of stromal cells. Read More

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http://dx.doi.org/10.1177/1040638719830464DOI Listing
February 2019

Characterization of the Mechanism and Substrate of Atrial Tachycardia Using Ultra-High-Density Mapping in Adults With Congenital Heart Disease: Impact on Clinical Outcomes.

J Am Heart Assoc 2019 Feb;8(4):e010535

1 Royal Brompton and Harefield NHS Foundation Trust London United Kingdom.

Background Atrial tachycardia ( AT ) is common in patients with adult congenital heart disease and is challenging to map and ablate. We used ultra-high-density mapping to characterize the AT mechanism and investigate whether substrate characteristics are related to ablation outcomes. Methods and Results A total of 50 AT s were mapped with ultra-high-density mapping in 23 procedures. Read More

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http://dx.doi.org/10.1161/JAHA.118.010535DOI Listing
February 2019

A primary inferior lumbar hernia misdiagnosed as a lipoma.

Ann R Coll Surg Engl 2019 Feb 18:e1-e3. Epub 2019 Feb 18.

General Surgery, Homerton University Hospital NHS Foundation Trust , London , UK.

Lumbar hernias can be superior (Grynfelt) and inferior (Petit). Inferior lumbar hernias are extremely rare and, therefore, are associated with diagnostic difficulty. We present a case of a primary spontaneous inferior lumbar hernia in a 79-year-old woman that was initially diagnosed as a large lipoma on ultrasound. Read More

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https://publishing.rcseng.ac.uk/doi/10.1308/rcsann.2019.0009
Publisher Site
http://dx.doi.org/10.1308/rcsann.2019.0009DOI Listing
February 2019
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Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.

Am J Med Genet A 2019 Feb 17. Epub 2019 Feb 17.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Here we report on a singleton patient affected by a complicated congenital syndrome characterized by growth delay, retinal dystrophy, sensorineural deafness, myopathy, ataxia, combined pituitary hormone deficiency, associated with mitochondrial impairment. Targeted clinical exome sequencing led to the identification of a homozygous missense variant in OTX2. Since only dominant mutations within OTX2 have been associated with cases of syndromic microphthalmia, retinal dystrophy with or without pituitary dysfunctions, this represents the first report of an OTX2 recessive mutation. Read More

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http://dx.doi.org/10.1002/ajmg.a.61092DOI Listing
February 2019

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.

Am J Med Genet A 2019 Feb 17. Epub 2019 Feb 17.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

Autosomal dominant Dandy-Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is considered to be part of the Dandy-Walker spectrum of disorders. Affected individuals often present with an occipital cephalocele with a bony skull defect, but typically have normal neurological development. Here, we report on a three-generation family in which individuals have variable phenotypes that are consistent with the ADDWOC spectrum: arachnoid cysts in the proband and his maternal grandfather, an occipital cephalocele in the proband and his brother, and a small bony defect in the proband's mother. Read More

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http://dx.doi.org/10.1002/ajmg.a.61095DOI Listing
February 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 Feb 17. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

Aim: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry.

Results: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. Read More

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
February 2019

U.K. hemophilia treaters' knowledge of risk assessment for prolonged bleeding associated with dental procedures.

Spec Care Dentist 2019 Feb 17. Epub 2019 Feb 17.

Professor and Consultant in Special Care Dentistry , Division of Public & Child Dental Health, Dublin Dental University Hospital, University of Dublin, Trinity College Dublin, Lincoln Place, Dublin 2.

Introduction: Optimal delivery of dental care for adults with congenital bleeding disorders (CBD) requires close collaboration between hemophilia treaters and dentists.

Aim: To explore U.K. Read More

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http://dx.doi.org/10.1111/scd.12359DOI Listing
February 2019

[Detection and functional analysis of BMP2 gene mutation in patients with tooth agenesis].

Beijing Da Xue Xue Bao Yi Xue Ban 2019 Feb;51(1):9-15

Department of Prosthodontics, Peking University School and Hospital of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.

Objective: To screen for BMP2 mutation with functional impact in patients with congenital tooth agenesis and to make oral and skeletal phenotype record and functional analysis with in vitro experiments.

Methods: We enrolled eighteen patients with congenital tooth agenesis. The medical and dental history was collected,and clinical and dental examinations including the X-ray examination of oral-facial and skeletal bone were performed for the phenotypic analysis. Read More

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http://dx.doi.org/10.19723/j.issn.1671-167X.2019.01.003DOI Listing
February 2019

Echocardiographic Evaluation of Patients Undergoing Transcatheter Tricuspid Valve-In-Valve Replacement.

J Am Soc Echocardiogr 2019 Feb 14. Epub 2019 Feb 14.

Stanford University School of Medicine, Palo Alto, California. Electronic address:

Background: Transcatheter tricuspid valve-in-valve replacement (TVIV) is an emerging therapy for dysfunctional surgical valves in patients with congenital and acquired TV disease. The present study was performed to establish baseline quantitative data for echocardiographic and invasive parameters obtained pre- and immediately post-TVIV.

Methods: Patients were drawn from the VIVID Registry. Read More

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http://dx.doi.org/10.1016/j.echo.2018.12.008DOI Listing
February 2019

Requirement and Duration of Tube Feed Supplementation among Congenital Diaphragmatic Hernia Patients.

J Pediatr Surg 2019 Jan 31. Epub 2019 Jan 31.

Division of General and Thoracic Surgery, The Hospital for Sick Children, Toronto, ON, Canada; Department of Surgery, University of Toronto, Toronto, ON, Canada. Electronic address:

Purpose: Oral feeds pose a challenge for congenital diaphragmatic hernia (CDH) infants. Tube feed (TF) supplementation may be required to support the achievement of normal growth. The aim of this study was to determine the duration and factors associated with TF use in CDH infants at our institution. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.01.017DOI Listing
January 2019
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Critical Growth Processes for the Midfacial Morphogenesis in the Early Prenatal Period.

Cleft Palate Craniofac J 2019 Feb 17:1055665619827189. Epub 2019 Feb 17.

1 Department of Plastic and Reconstructive Surgery, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Background:: Congenital midfacial hypoplasia often requires intensive treatments and is a typical condition for the Binder phenotype and syndromic craniosynostosis. The growth trait of the midfacial skeleton during the early fetal period has been assumed to be critical for such an anomaly. However, previous embryological studies using 2-dimensional analyses and specimens during the late fetal period have not been sufficient to reveal it. Read More

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http://dx.doi.org/10.1177/1055665619827189DOI Listing
February 2019

[Infective Endocarditis in Right Ventricle( RV)-Pulmonary Artery( PA) Conduit Late after the Ross Procedure;Report of a Case].

Kyobu Geka 2019 Feb;72(2):156-159

Department of Cardiovascular Surgery, Seirei Hamamatsu General Hospital, Hamamatsu, Japan.

Ross procedure has been found to have a lower incidence of infective endocarditis compared to other aortic replacement procedure using prosthetic valves. We report a case of 25-year-old man who underwent Ross procedure for congenital aortic stenosis and regurgitation when he was 7 years old. He presented with fever and was highly suspected of infective endocarditis. Read More

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February 2019

[Surgical Repair of Stanford Type A Acute Aortic Dissection Associated with Anomalous Retroaortic Left Brachiocephalic Vein;Report of a Case].

Kyobu Geka 2019 Feb;72(2):153-155

Department of Cardiovascular Surgery, Yokohama Medical Center, Yokohama, Japan.

Anomalous retroaortic left brachiocephalic vein( ARLBV) is a rare vascular abnormaly, usually asossiated with congenital heart diseases. We present a very rare case of Stanford type A acute aortic dissection associated with ARLBV. A 70-year-old man was referred to our hospital complaining of worsening back pain and chest pain. Read More

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February 2019

Trends in resource use and effectiveness of ultrasound detection of fetal structural anomalies in France: a multiple registry-based study.

BMJ Open 2019 Feb 15;9(2):e025482. Epub 2019 Feb 15.

Fetal Medicine Department, Sorbonne University, AP-HP, Armand Trousseau Hospital, Paris, France.

Objective: To analyse trends in the number of ultrasound examinations in relation to the effectiveness of prenatal detection of birth defects using population-based data in France.

Design: A multiple registry-based study of time trends in resource use (number of ultrasounds) and effectiveness (proportion of cases prenatally diagnosed).

Setting: Three registries of congenital anomalies and claims data on ultrasounds for all pregnant women in France. Read More

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http://dx.doi.org/10.1136/bmjopen-2018-025482DOI Listing
February 2019

Trends in surgical and catheter interventions for isolated congenital shunt lesions in the UK and Ireland.

Heart 2019 Feb 16. Epub 2019 Feb 16.

Paediatric Cardiac Surgery, Birmingham Children's Hospital, Birmingham, UK.

Objective: To evaluate time trends in the use of catheter and surgical procedures, and associated survival in isolated congenital shunt lesions.

Methods: Nationwide, retrospective observational study of the UK National Congenital Heart Disease Audit database from 2000 to 2016. Patients undergoing surgical or catheter procedures for atrial septal defect (including sinus venosus defect), patent foramen ovale, ventricular septal defect and patent arterial duct were included. Read More

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http://dx.doi.org/10.1136/heartjnl-2018-314428DOI Listing
February 2019

Molecular genomic profiling of melanocytic nevi.

J Invest Dermatol 2019 Feb 14. Epub 2019 Feb 14.

Melanoma Institute Australia, The University of Sydney, NSW, Australia; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.

The benign melanocytic nevus is the commonest tumor in humans and rarely transforms into cutaneous melanoma. Elucidation of the nevus genome is required to better understand the molecular steps of progression to melanoma. We performed whole genome sequencing on a series of 14 benign melanocytic nevi, consisting of both congenital and acquired types. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X193011
Publisher Site
http://dx.doi.org/10.1016/j.jid.2018.12.033DOI Listing
February 2019
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In utero intervention for severe congenital heart disease.

Best Pract Res Clin Obstet Gynaecol 2019 Jan 17. Epub 2019 Jan 17.

The Fetal Center, Children's Memorial Hermann Hospital and the Department of Obstetrics and Gynecology, McGovern Medical School, UTHealth, Houston, TX, USA. Electronic address:

The aim of foetal cardiac therapy is to treat an abnormality at the developmental stage so that the process of cardiac growth, which is complex and relies on the volume and direction of circulating blood as well as genetic determinants, can continue. In reality, most cardiac interventions are palliative; hence, major abnormalities are still present at birth. Nevertheless, tangible benefits following successful foetal intervention include improved haemodynamics and reduction in secondary damage leading to better postnatal outcomes. Read More

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http://dx.doi.org/10.1016/j.bpobgyn.2019.01.007DOI Listing
January 2019

Prenatal diagnosis and management of congenital diaphragmatic hernia.

Best Pract Res Clin Obstet Gynaecol 2019 Jan 5. Epub 2019 Jan 5.

Academic Department of Development and Regeneration, Cluster Woman and Child, Biomedical Sciences, KU Leuven, Belgium; Clinical Department of Obstetrics & Gynaecology, KU Leuven, Leuven, Belgium; Institute for Women's Health, University College London, London, UK; European Reference Network on Rare and Inherited Congenital Anomalies "ERNICA". Electronic address:

Congenital diaphragmatic hernia is characterized by failed closure of the diaphragm, thereby allowing abdominal viscera to herniate into the thoracic cavity and subsequently interfering with normal lung development. At birth, pulmonary hypoplasia leads to respiratory insufficiency and persistent pulmonary hypertension (PHT), that is lethal in up to 32% of patients. In isolated cases, the outcome may be predicted prenatally by medical imaging and advanced genetic testing. Read More

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http://dx.doi.org/10.1016/j.bpobgyn.2018.12.010DOI Listing
January 2019
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Anomalous aortic origin of coronary arteries: Early results on clinical management from an international multicenter study.

Int J Cardiol 2019 Feb 10. Epub 2019 Feb 10.

Section of Pediatric and Congenital Cardiac Surgery, Department of Cardiac, Thoracic and Vascular Sciences, University of Padova, Medical School, Italy.

Background: Anomalous aortic origin of coronary arteries (AAOCA) is a rare abnormality, whose optimal management is still undefined. We describe early outcomes in patients treated with different management strategies.

Methods: This is a retrospective clinical multicenter study including patients with AAOCA, undergoing or not surgical treatment. Read More

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http://dx.doi.org/10.1016/j.ijcard.2019.02.007DOI Listing
February 2019

Surveillance of pregnant women with potential exposure to Zika virus following travel.

G Chir 2019 Jan-Feb;40(1):58-65

Aim: To describe the experience of a single fetal medicine unit in evaluating pregnant women with potential exposure to Zika virus (ZIKV) following travel.

Method: Between February 2016 and June 2017, a multidisciplinary team evaluated pregnant women by developing a local pathway based on Public Health England guidance. All pregnant women were offered serial fetal ultrasound scans (USS). Read More

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February 2019

Pregnancy outcomes after maternal Zika virus infection in a non-endemic region: prospective cohort study.

Clin Microbiol Infect 2019 Feb 13. Epub 2019 Feb 13.

Maternal Fetal Medicine Unit. Department of Obstetrics. Hospital Universitari Vall d'Hebron. Ps. Vall d'Hebron 119-129, 08035 Barcelona. Universitat Autònoma de Barcelona.

Objectives: to describe pregnancy outcomes after Zika virus (ZIKV) infection in a non-endemic region.

Methods: according to the Spanish protocol issued after the ZIKV outbreak in Brazil in 2015, all pregnant women who had travelled to high-burden countries were screened for ZIKV. Serological and molecular tests were used to identify ZIKV-infected pregnant women. Read More

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http://dx.doi.org/10.1016/j.cmi.2019.02.008DOI Listing
February 2019

Identification of small molecule inhibitors targeting the Zika virus envelope protein.

Antiviral Res 2019 Feb 13. Epub 2019 Feb 13.

Department of Microbiology and Blavatnik Institute, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA. Electronic address:

The recent emergence of Zika virus, a mosquito-borne flavivirus, in the Americas has shed light on the severe neurological diseases associated with infection, notably congenital microcephaly in newborns and Guillain-Barré syndrome in adults. Despite the recent focus on Zika virus, there are currently no approved vaccines or antiviral therapies available to treat or prevent infection. In this study we established a competitive amplified luminescent proximity homogeneous assay (ALPHAscreen) to identify small molecule inhibitors targeting the envelope protein of Zika virus (Zika E). Read More

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http://dx.doi.org/10.1016/j.antiviral.2019.02.008DOI Listing
February 2019
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Just choice: a Danielsian analysis of the aims and scope of prenatal screening for fetal abnormalities.

Med Health Care Philos 2019 Feb 15. Epub 2019 Feb 15.

Department of Health, Ethics and Society, GROW School for Oncology and Developmental Biology, Faculty of Health, Medicine and Life Sciences, Maastricht University, 6200 MD, Maastricht, The Netherlands.

Developments in Non-Invasive Prenatal Testing (NIPT) and cell-free fetal DNA analysis raise the possibility that antenatal services may soon be able to support couples in non-invasively testing for, and diagnosing, an unprecedented range of genetic disorders and traits coded within their unborn child's genome. Inevitably, this has prompted debate within the bioethics literature about what screening options should be offered to couples for the purpose of reproductive choice. In relation to this problem, the European Society of Human Genetics (ESHG) and American Society of Human Genetics (ASHG) tentatively recommend that any expansion of this type of screening, as facilitated by NIPT, should be limited to serious congenital and childhood disorders. Read More

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http://dx.doi.org/10.1007/s11019-019-09888-5DOI Listing
February 2019

Comparison of early postnatal prediction models for survival in congenital diaphragmatic hernia.

J Perinatol 2019 Feb 15. Epub 2019 Feb 15.

Division of Neonatology, University of Utah School of Medicine, Salt Lake City, UT, USA.

Objective: To compare the PF-PCO equation-partial pressure of arterial oxygen (PaO)/fraction of inspired oxygen (FiO) minus partial pressure of carbon dioxide (PCO)-to three other tools for postnatal prediction of survival in infants with congenital diaphragmatic hernia (CDH).

Study Design: A retrospective analysis of 203 infants with CDH from 1 January 2003 to 30 June 2018. Area under the curve (AUC) analysis was performed for survival and secondary outcomes of survival without extracorporeal membrane oxygenation support (ECMO) and death despite ECMO. Read More

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http://www.nature.com/articles/s41372-019-0335-8
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http://dx.doi.org/10.1038/s41372-019-0335-8DOI Listing
February 2019
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The definition of a hemodynamically significant ductus arteriosus.

Pediatr Res 2019 Feb 15. Epub 2019 Feb 15.

Department of Neonatology, Beth Israel Deaconess Medical Center and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41390-019-0342-7DOI Listing
February 2019

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

Nat Commun 2019 Feb 15;10(1):797. Epub 2019 Feb 15.

Instituto de Investigaciones Biomédicas "Alberto Sols", CSIC-UAM, 28029, Madrid, Spain.

FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Read More

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http://dx.doi.org/10.1038/s41467-019-08548-9DOI Listing
February 2019

Platelet-rich plasma improves therapeutic effects of menstrual blood-derived stromal cells in rat model of intrauterine adhesion.

Stem Cell Res Ther 2019 Feb 15;10(1):61. Epub 2019 Feb 15.

Key Laboratory of Reproductive Dysfunction Diseases and Fertility Remodeling of Liaoning Province, Reproductive Medicine Center, Obstetrics and Gynecology Department, Shengjing Hospital affiliated to China Medical University, No. 39 Huaxiang Road, Tiexi District, Shenyang, Liaoning, China.

Background: Intrauterine adhesion (IUA) is a major cause of female secondary infertility. We previously demonstrated that menstrual blood-derived stromal cell (MenSC) transplantation helped severe IUA patients have pregnancy and endometrium regeneration. We also initiated platelet-rich plasma (PRP) acted as a beneficial supplement in MenSC culturing and a potential endometrial receptivity regulator. Read More

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http://dx.doi.org/10.1186/s13287-019-1155-7DOI Listing
February 2019

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.

Orphanet J Rare Dis 2019 Feb 15;14(1):45. Epub 2019 Feb 15.

Center for Medical Genetics, School of life sciences, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, People's Republic of China.

Background: Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RSTS) are both rare congenital multiple malformation disorders caused by genes associated with transcription. They share a number of similar features clinically. In addition, it is difficult to make a molecular diagnosis rapidly and detect the mosaic mutation when only sanger sequencing is taken. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1022-8DOI Listing
February 2019
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The genetic basis of Turner syndrome aortopathy.

Am J Med Genet C Semin Med Genet 2019 Feb 16. Epub 2019 Feb 16.

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon.

Our goal is to identify the genetic underpinnings of bicuspid aortic valve and aortopathy in Turner syndrome. We performed whole exome sequencing on 188 Turner syndrome study subjects from the GenTAC registry. A gene-based burden test, SKAT-O, was used to evaluate the data using bicuspid aortic valve (BAV) and aortic dimension z-scores as covariates. Read More

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http://dx.doi.org/10.1002/ajmg.c.31686DOI Listing
February 2019