333,449 results match your criteria Congenital Heart Disease[Journal]


EDUCATIONAL SERIES IN CONGENITAL HEART DISEASE: Tetralogy of Fallot: diagnosis to long-term follow-up.

Authors:
R Bedair X Iriart

Echo Res Pract 2019 Mar;6(1):R9-R23

Department of Pediatric and Adult Congenital Cardiology, Hôpital Cardiologique du Haut-Lévêque, CHU de Bordeaux, Pessac, France.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect, affecting 3 in 10,000 live births. Surgical correction in early childhood is associated with good outcomes, but lifelong follow-up is necessary to identify the long-term sequelae that may occur. This article will cover the diagnosis of TOF in childhood, the objectives of surveillance through adulthood and the value of multi-modality imaging in identifying and guiding timely surgical and percutaneous interventions. Read More

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Adaptive behaviour and quality of life in school-age children with congenital visual disorders and different levels of visual impairment.

Res Dev Disabil 2018 Dec 14;85:154-162. Epub 2018 Dec 14.

Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, UK; Neurodisability Service, Great Ormond Street Hospital for Children NHS Foundation Trust, UK.

Background: Adaptive behaviours are vital skills that allow individuals to function independently and are potentially amenable to behavioural interventions. Previous research indicated that adaptive behaviours are reduced in children and adolescents with severe to profound VI, but it was unclear if this was also the case for children with mild to moderate VI.

Aim: The aim of the study was to assess differences in adaptive behaviour in children with congenital visual disorders and different levels of visual impairment and their influence on quality of life and everyday strengths and difficulties. Read More

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December 2018

Epilepsy and seizures in children with congenital heart disease: A prospective study.

Seizure 2018 Nov 26;64:50-53. Epub 2018 Nov 26.

Clinique d'Investigation Neuro-Cardiaque (CINC), CHU Sainte-Justine, Montreal, Canada.

Purpose: Children with complex congenital heart disease (CHD) experience high incidence of perioperative seizures. Population-based studies also report high epilepsy co-morbidity in CHD. Given the increasing survival of patients with CHD and the interference of seizures and epilepsy with the long-term outcomes, characterizing them in this population is of high relevance. Read More

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November 2018

R125H, W240S, C386R, and V507I SLC4A11 mutations associated with corneal endothelial dystrophy affect the transporter function but not trafficking in PS120 cells.

Exp Eye Res 2018 Dec 14. Epub 2018 Dec 14.

School of Optometry, Indiana University Bloomington, Bloomington, IN, USA. Electronic address:

SLC4A11 mutations are associated with Fuchs' endothelial corneal dystrophy (FECD), congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome (endothelial dystrophy with auditory deficiency). Mice with genetically ablated Slc4a11 recapitulate CHED, exhibiting significant corneal edema and altered endothelial morphology. We recently demonstrated that SLC4A11 functions as an NH sensitive, electrogenic H transporter. Read More

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December 2018
3 Reads

Movement Disorders in Treatable Inborn Errors of Metabolism.

Mov Disord 2018 Dec 17. Epub 2018 Dec 17.

Department of Pediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

There are several hundred single-gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non-neurological and neurological manifestations, commonly with onset during childhood. Movement disorders are among the most common neurological problems in inborn errors of metabolism, but, in many cases, remain poorly defined. Read More

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December 2018

Widespread circulation of West Nile virus, but not Zika virus in southern Iran.

PLoS Negl Trop Dis 2018 Dec 17;12(12):e0007022. Epub 2018 Dec 17.

Department of Clinical Virology, Clinical Microbiology Research Center, Shiraz University of Medical Sciences, Namazi Hospital, Shiraz, Iran.

West Nile virus (WNV) and Zika virus (ZIKV) are mosquito-borne viral infections. Over the past few decades, WNV has been associated with several outbreaks involving high numbers of neuroinvasive diseases among humans. The recent re-emergence of ZIKV has been associated with congenital malformation and also with Guillain-Barre syndrome in adults. Read More

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December 2018
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Application of the Clinical Practice Guideline for Congenital Muscular Torticollis: A Case Report.

Pediatr Phys Ther 2019 Jan;31(1):E1-E5

Mary Free Bed Rehabilitation Hospital (Dr Huegel), Grand Rapids, Michigan; Department of Physical Therapy (Dr Kenyon), Grand Valley State University, Grand Rapids, Michigan.

Purpose: This case report illustrates application of the Clinical Practice Guideline for Congenital Muscular Torticollis in a pediatric outpatient facility.

Descriptions: The infant was a 2-month-old baby presenting with congenital muscular torticollis. Application of each of the 16 action statements outlined in the Clinical Practice Guideline is detailed as related to the case. Read More

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January 2019

Sensory Restoration of the Facial Region.

Ann Plast Surg 2018 Dec 13. Epub 2018 Dec 13.

From the Department of Plastic Surgery, University of Tennessee Health Science Center, Memphis, TN.

Normal sensitivity of the face is very important for preserving its integrity and function as an efferent source of information for the brain. The trigeminal nerve, which is the largest cranial nerve, conducts most of facial sensory function through its 3 branches: the ophthalmic nerve (V1), the maxillary nerve (V2), and the mandibular nerve (V3). The trigeminal nerve may be damaged by a variety of etiologies including inflammatory disorders, brain tumor resection, trauma, iatrogenic injury, or congenital anomalies. Read More

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December 2018

A new unilateral abduction orthosis for Ponseti-treated clubfoot: A cohort study to assess compliance.

Prosthet Orthot Int 2018 Dec 17:309364618814866. Epub 2018 Dec 17.

2 Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Oswestry, UK.

Background:: The Ponseti method for treating congenital talipes equinovarus requires an orthosis to maintain correction after manipulation and casting, typically the 'boots and bar'. Non-compliance with the orthosis increases the risk of recurrent deformity. This study investigates a new orthosis, the abduction dorsiflexion mechanism. Read More

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December 2018
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99mTc-diphosphonates bone scintigraphy for vitality evaluation in cleft palate.

Eur Rev Med Pharmacol Sci 2018 Dec;22(23):8497-8501

Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari Aldo Moro, Bari, Italy.

Cleft of the lip, palate and alveolus are congenital oro-maxillofacial malformation with an established treatment protocol. At present, there is great interest in the alveolar bone grafting procedures that involve the use of platelet-rich-plasma (PRP), to enhance bone formation and specifically to promote bone graft healing in head and neck tissues regeneration. The aim of this retrospective case report study was to assess the condition and viability of the standard bone grafting in association with PRP (platelet rich plasma) to enhance osteogenesis and maintain osteointegration in alveolar cleft with a follow up of eight years from the surgical procedure. Read More

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December 2018

Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association.

Pediatr Endocrinol Rev 2018 Dec;16(2):275-283

Medical School, Mohammed VI Hospital 4806, 60049 Oujda, Morocco, E-mail:

Ellis-Van Creveld (EvC) syndrome is a rare autosomal recessive chondroectodermal dysplasia including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease in 60% of patients. Additional findings may be observed affecting the pulmonary, renal, gastrointestinal, hematologic, and central nervous systems. We report a case of an 11-year-old Moroccan boy with EVC syndrome and Dandy-Walker malformation. Read More

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December 2018

Spectral-domain optical coherence tomography foveal morphology as a prognostic factor for vision performance in congenital aniridia.

Eur J Ophthalmol 2018 Dec 17:1120672118818352. Epub 2018 Dec 17.

1 VISSUM Alicante, Alicante, Spain.

Background:: Patients with congenital aniridia usually have some degree of foveal hypoplasia, thus representing a limiting factor in the final visual acuity achieved by these patients. The purpose of this study was to analyze whether the foveal morphology assessed by spectral-domain optical coherence tomography may serve as a prognostic indicator for best-corrected visual acuity in congenital aniridia patients.

Methods:: Observational two-center study performed between January 2012 and March 2017 in the pediatric ophthalmology department at Vissum Alicante and Vissum Madrid, Spain. Read More

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December 2018

Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment.

Am J Med Genet A 2018 Dec 17. Epub 2018 Dec 17.

Department of Pediatrics, Maastricht University Medical Center+, Maastricht, The Netherlands.

Kabuki syndrome (KS) is a multiple congenital malformation syndrome which has been described across all ethnic groups. Most KS patients possess two genetic subtypes: KMT2D-associated, autosomal-dominant KS type 1 (KS1; OMIM 147920); and KDM6A-associated, X-linked-dominant KS type 2. Generalized joint hypermobility is one feature of KS, but its exact incidence and pattern is not well described in the literature. Read More

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December 2018

A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.

Am J Med Genet A 2018 Dec 17. Epub 2018 Dec 17.

Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

Autosomal recessive PRUNE1 mutations are reported to cause a severe neurodevelopmental disorder with microcephaly, hypotonia, and brain malformations. We describe clinical and neuropathological features in a cohort of nine individuals of Cree descent who, because of a founder effect, are homozygous for the same PRUNE1 mutation. They follow the course of a combined neuromuscular and neurodegenerative disease, rather than a pure failure of normal development. Read More

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December 2018

Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis.

Congenit Heart Dis 2018 Dec 16. Epub 2018 Dec 16.

The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Objective: To evaluate the prevalence of Noonan spectrum disorders (NSD) in a pediatric population with valvar pulmonary stenosis (vPS) and identify the clinical characteristics that differentiate those with NSD from those without NSD.

Design: A retrospective chart review of 204 patients diagnosed with vPS between 9/1/2012 and 12/1/2016 at a pediatric medical center was performed. The quantitative features of vPS, genetic diagnosis information, and phenotypic characteristics of Noonan syndrome were collected. Read More

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December 2018

Riata Lead Failure in Pediatric and Congenital Heart Disease Patients.

J Cardiovasc Electrophysiol 2018 Dec 16. Epub 2018 Dec 16.

University of Alberta and Stollery Children's Hospital, 8440 112 St NW, Edmonton, AB, Canada.

Background: Implantable cardioverter defibrillator (ICD) lead failures occur at higher rates in pediatric and CHD patients.

Objective: To determine the rate and timing of Riata lead failure in pediatric and congenital heart disease (CHD) patients.

Methods: This was a retrospective, multicenter cohort study of pediatric patients and adults with CHD with implantation of a Riata or Riata ST lead between 2002-2009. Read More

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December 2018

Anatomy, baseline characteristics, and procedural outcome of patent ductus arteriosus in German Shepherd dogs.

J Vet Intern Med 2018 Dec 17. Epub 2018 Dec 17.

Department of Small Animal Clinical Sciences, College of Veterinary Medicine & Biomedical Sciences, Texas A&M University, College Station, Texas.

Background: German Shepherd dogs (GSD) are predisposed to developing patent ductus arteriosus (PDA) and are reportedly prone to type III (tubular) PDA anatomy. Dogs with type III anatomy are not considered favorable candidates for device-based intervention.

Objective: To describe the PDA anatomy, baseline characteristics, and procedural outcome of GSD with PDA. Read More

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December 2018

Congenital Heart Surgical Admissions in Patients with Trisomy 13 and 18: Frequency, Morbidity, and Mortality.

Pediatr Cardiol 2018 Dec 17. Epub 2018 Dec 17.

Department of Pediatric, MassGeneral Hospital for Children, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

Congenital heart defects are common among patients with trisomy 13 and 18; surgical repair has been controversial and rarely studied. We aimed to assess the frequency of cardiac surgery among admissions with trisomy 13 and 18, and evaluate their associations with resource use, complications, and mortality compared to admissions without these diagnoses. We evaluated congenital heart surgery admissions of ages < 18 years in the 1997, 2000, 2003, 2006, and 2009 Kids' Inpatient Database. Read More

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December 2018

Training: improving antenatal detection and outcomes of congenital heart disease.

BMJ Open Qual 2018 24;7(4):e000276. Epub 2018 Nov 24.

School of Sport and Exercise Sciences and College of Engineering, Swansea University, Medical Physics and Biomedical Engineering, Swansea, UK.

Objectives: This study describes the design, delivery and efficacy of a regional fetal cardiac ultrasound training programme. This programme aimed to improve the antenatal detection of congenital heart disease (CHD) and its effect on fetal and postnatal outcomes.

Design Setting And Participants: This was a prospective study that compared antenatal CHD detection rates by professionals from 13 hospitals in Wales before and after engaging in our 'skills development programme'. Read More

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November 2018

Functional and Molecular Characterization of C91S Mutation in the Second Epidermal Growth Factor-Like Domain of Factor VII.

Iran J Biotechnol 2018 Apr 18;16(1):e1813. Epub 2018 Apr 18.

Department of Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: Coagulation Factor VII is a vitamin K-dependent serine protease which has a pivotal role in the initiation of the coagulation cascade. The congenital Factor VII deficiency is a recessive hemorrhagic disorder that occurs due to mutations of gene. In the present study C91S (p. Read More

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Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran.

Avicenna J Med Biotechnol 2018 Oct-Dec;10(4):273-276

Genome Research Division, Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 KL, Nijmegen, The Netherlands.

Congenital Fibrosis of the Extra Ocular Muscles1 (CFEOM1) is an autosomal dominant condition, caused by mutation in the and . It is characterized by congenital non-progressive restrictive ophthalmoplegia and ptosis. Mutational analysis of the known genes in such rare diseases by Sanger sequencing not only prevents wasting the time and expenses but also speeds diagnosis process, genetic counseling, and the possibility of prenatal diagnosis. Read More

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December 2018

Interaction Effect of RsaI and BamHI Polymorphisms of TGFα, BMP2 and BMP4 on the Occurrence of Non-Syndromic Cleft Lip and Palate in Iranian Patients.

Avicenna J Med Biotechnol 2018 Oct-Dec;10(4):248-252

Dentofacial Deformities Research Center, Research Institute of Dental Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: Orofacial cleft is the most common congenital defect of the maxillofacial region. Its non-syndromic type is multi-factorial, and several genes are involved in its occurrence. This study aimed to assess the interaction effect of Rsal and BamHI polymorphisms of gene and Bone Morphogenetic Protein-2 (BMP2) and BMP4 variants on the occurrence of Non-Syndromic Cleft Lip and Palate (NSCLP) in the Iranian population. Read More

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December 2018

Correlation of Foot Bimalleolar Angle and Ultrasonography in Assessing the Severity of Club Foot in Neonates Treated by the Ponseti Method.

Malays Orthop J 2018 Nov;12(3):14-18

Department of Orthopaedics, University College of Medical Sciences, Delhi, India.

Correlation of Pirani score and foot bimalleolar (FBM) angle has been used in few studies but correlation of FBM angle with ultrasonography has never been evaluated so they are being correlated in assessing the severity of clubfoot in neonates treated by Ponseti method. Thirty-two feet with congenital talipes equinovarus (CTEV) deformity in neonates were prospectively treated by the Ponseti method. FBM angle and ultrasound parameters were measured three times i. Read More

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November 2018

Just flip it!-CRT implantation in a patient with dextrocardia and situs inversus totalis.

J Arrhythm 2018 Dec 6;34(6):656-658. Epub 2018 Oct 6.

Heart Rhythm Services - St-Paul's Hospital University of British Columbia Vancouver BC Canada.

Implantation of a cardiac resynchronization therapy (CRT) device in patients with congenital heart disease may be challenging because of the particular underlying anatomy. We present the case of a right-sided transvenous implantation of a dual-chamber CRT-D device in a patient with situs inversus totalis and mirror image dextrocardia. To facilitate our anatomic orientation and to overcome unusual hand-eye coordination problems, we decided to flip the fluoroscopic image projection by 180° (right-left), creating the optical impression of a "normalized" heart position (levocardia). Read More

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December 2018

Entrapment and retrieval of a diagnostic electrophysiological catheter in the Chiari network.

J Arrhythm 2018 Dec 3;34(6):647-649. Epub 2018 Sep 3.

Department of Heart Disease Haukeland University Hospital Bergen Norway.

The Chiari networks are reticulated fibers of embryological remnant venous valves in the right atrium. In patients with this congenital variation, manipulation of diagnostic catheters can be difficult, and there is a substantial risk of entrapment during electrophysiological studies. We report a case of successful retraction of a diagnostic catheter entangled in the Chiari network with the use of a lead extraction tool during a scheduled atrial fibrillation ablation. Read More

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December 2018

and Thyroid: A Pleiotropic Candidate Gene for Congenital Hypothyroidism.

Front Endocrinol (Lausanne) 2018 29;9:730. Epub 2018 Nov 29.

Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.

Variations in the transcription factor Gli-similar 3 () gene have been associated to variable congenital endocrine defects, including both morphogenetic and functional thyroid alterations. Evidence from Glis3 knockout mice indicates a relevant role for in thyroid hormone biosynthesis and postnatal thyroid gland growth, with a mechanism of action downstream of the TSH/TSHR interaction. However, the pathophysiological role of this transcription factor during the embryonic thyroid development remains unexplored. Read More

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November 2018

Identification of a novel mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability.

J Genet 2018 Dec;97(5):1479-1484

Department of Ophthalmology, Seoul National University Hospital, Seoul, South Korea.

Ocular albinism type 1 (OA1) is an X-linked inherited disease characterized by impaired visual acuity, congenital nystagmus, foveal hypoplasia, hypopigmentation of iris and fundus. It is caused by mutations in the G protein-coupled receptor143 () gene. The genetic characteristics of OA1 have not been well defined in Asians. Read More

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December 2018

WNT10A variants in relation to nonsyndromic hypodontia in eastern Slovak population.

J Genet 2018 Dec;97(5):1169-1177

Department of Biology, Faculty of Humanities and Natural Sciences, University of Presov, Presov, Slovakia.

Nonsyndromic hypodontia is a congenital absence of less than six permanent teeth, with a most common subtype maxillary lateral incisor agenesis (MLIA). Mutations in several genes have been described in severe tooth agenesis. The aim of this study was to search for the variants in wingless-type MMTV-integration site family member (), paired box 9 () and axis inhibitor 2 () genes, and investigate their potential role in the pathogenesis of non-syndromic hypodontia. Read More

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December 2018

Dacron Conduit for Extracardiac Total Cavopulmonary Anastomosis: A Word of Caution.

Heart Lung Circ 2018 Dec 1. Epub 2018 Dec 1.

Pediatric and Adult Congenital Heart Cardiac Surgery and Cardiology Program Unit, S. Orsola-Malpighi Hospital, University of Bologna Medical School, Bologna, Italy.

Background: The extracardiac conduit technique is a valid option for completing total cavopulmonary anastomosis (TCPC) in patients with a single ventricle. The technique allows for beating heart surgery, optimal flow dynamics, and reduced postoperative atrial arrhythmia. Different types of conduit have been proposed. Read More

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December 2018

An internal carotid artery pseudoaneurysm with neck hematoma: A rare cause of a life-threatening neck mass mimicking an abscess.

Auris Nasus Larynx 2018 Dec 13. Epub 2018 Dec 13.

Department of Diagnostic and Interventional Radiology, Clinical Hospital Center "Sisters of Mercy", Vinogradska Street 29, 10000 Zagreb, Croatia; School of Dental Medicine, University of Zagreb, Ivana Gundulića 5, 10000 Zagreb, Croatia.

A neck mass has a broad and complex differential diagnosis, generally divided into neoplastic, congenital and inflammatory categories. An internal carotid artery hemorrhage with pseudoaneurysm formation is a very rare entity that may resemble other common conditions in the differential diagnosis. Large, expanding or symptomatic pseudoaneurysm is critical to efficiently diagnose and manage, due to risk of life-threatening hemorrhage. Read More

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December 2018

Trends in prevalence of HIV and syphilis in a central blood bank of Veracruz, Mexico.

Transfus Apher Sci 2018 Dec 8. Epub 2018 Dec 8.

Laboratorio de Biología Molecular, Centro Estatal de la Transfusión Sanguínea del Estado de Veracruz, Veracruz, Mexico; Facultad de Bioanálisis, Universidad Veracruzana, Veracruz, Veracruz, Mexico. Electronic address:

Syphilis and HIV infections continue to threaten the safety of blood banks in countries where altruistic donations are rare. The aim of this study of blood donors to the Centro Estatal de la Transfusion Sanguínea de Veracruz (Mexico) was to determine changes in the prevalence of syphilis and HIV, and to identify factors associated with these infections. A total of 109,054 blood donors were retrospectively analyzed from 2007 to 2014. Read More

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December 2018

The challenge of risk stratification in Ebstein's anomaly.

Int J Cardiol 2018 Dec 6. Epub 2018 Dec 6.

Department of Paediatric Cardiology and Congenital Heart Disease, Deutsches Herzzentrum München an der Technischen Universität München, Munich, Germany.

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December 2018

Haab striae: Optical coherence tomographic analysis.

J Fr Ophtalmol 2018 Dec 13. Epub 2018 Dec 13.

Servicio de Oftalmología, Hospital Clínico San Carlos, Madrid, Spain.

Purpose: To study Haab striae in adults with primary congenital glaucoma and describe them by anterior segment optical coherence tomography, as well as analyze their evolution over the patient's lifetime.

Material And Methods: Three patients with primary congenital glaucoma were recruited, aged between 17 and 48 years old, with incidentally noted Haab striae on glaucoma consultation. They were studied by: slit lamp; anterior segment optical coherence tomography, Heidelberg Engineering Inc. Read More

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December 2018

Assessment of balance skills and falling risk in children with congenital bilateral profound sensorineural hearing loss.

Int J Pediatr Otorhinolaryngol 2019 Jan 23;116:75-78. Epub 2018 Oct 23.

Department of Pediatrics, Karabuk University, Faculty of Medicine, Karabuk, Turkey.

Objective: To evaluate the balance skills and falling risk in children with a congenital bilateral profound sensorineural hearing loss (CBPSNHL).

Methods: 25 children with CBPSNHL and healthy 25 children with similar age and gender were included in the study. The flamingo balance test, the tandem stance test, and the one-leg standing test were performed to assess the patients' static balance skills. Read More

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January 2019

Causes and prevention of revision surgery for preauricular sinus: A histopathological analysis.

Int J Pediatr Otorhinolaryngol 2019 Jan 9;116:199-203. Epub 2018 Nov 9.

Department of Otorhinolaryngology-Head &Neck Surgery, Inje University Busan Paik Hospital, Busan, South Korea. Electronic address:

Objective: Recurrence rates following preauricular sinus (PAS) surgery vary. Few studies have investigated recurrence after primary PAS surgery in histopathological terms. We performed a histopathological analysis of the causes of revision surgery for PAS, with a view to reducing the recurrence rate after primary surgery. Read More

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January 2019
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Is transcanal tympanoplasty an appropriate surgical treatment for congenital middle ear cholesteatoma with ossicular involvement?

Int J Pediatr Otorhinolaryngol 2019 Jan 23;116:102-106. Epub 2018 Oct 23.

Department of Otolaryngology, Ajou University School of Medicine, Suwon, Republic of Korea. Electronic address:

Objectives: The aims of this study are to analyze the clinical characteristics of congenital middle ear cholesteatoma (CMC), to evaluate the treatment results according to the types of surgical approach, and to suggest the appropriate surgical treatment option in each stage.

Methods: One hundred fifteen children (≤15 years old) with surgically confirmed CMC, who underwent surgery at a tertiary hospital during 1994-2012 and were followed up more than 2 years, were enrolled in this study. CMC was classified into four stages by the staging system proposed by Potsic. Read More

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January 2019

Hyperglycemia differentially affects proliferation, apoptosis, and BNIP3 and p53 mRNA expression of human umbilical cord Wharton's jelly cells from non-diabetic and diabetic pregnancies.

Biochem Biophys Res Commun 2018 Dec 13. Epub 2018 Dec 13.

Coordinación de Endocrinología Ginecológica y Perinatal, INPer, Mexico.

Diabetes in pregnancy constitutes an unfavorable environment for embryonic and fetal development, where the child has a higher risk of perinatal morbidity and mortality, with high incidence of congenital malformations and predisposition to long-term metabolic diseases that increase with a hypercaloric diet. To analyze whether hyperglycemia differentially affects proliferation, apoptosis, and mRNA expression in cells from children of normoglycemic pregnancies (NGPs) and diabetes mellitus pregnancies (DMPs), we used umbilical cord Wharton jelly cells as a research model. Proliferation assays were performed to analyze growth and determine the doubling time, and the rate of apoptosis was determined by flow cytometry-annexin-V assays. Read More

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December 2018

Should we use Palivizumab immunoprophylaxis for infants against respiratory syncytial virus? - a cost-utility analysis.

Isr J Health Policy Res 2018 Dec 17;7(1):63. Epub 2018 Dec 17.

Department of Pediatrics, Shaarae Zedek Medical Center, Affiliated to the Hadassah-Hebrew University Medical School, Jerusalem, Israel.

Background: Passive immunization against RSV (Respiratory Syncytial Virus) is given in most western countries (including Israel) to infants of high risk groups such as premature babies, and infants with Congenital Heart Disease or Congenital Lung Disease. However, immunoprophylaxis costs are extremely high ($2800-$4200 per infant). Using cost-utility analysis criteria, we evaluate whether it is justified to expand, continue or restrict nationwide immunoprophylaxis using palivizumab of high risk infants against RSV. Read More

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December 2018

Developmental mutant mouse models for external genitalia formation.

Congenit Anom (Kyoto) 2018 Nov 22. Epub 2018 Nov 22.

Department of Developmental Genetics, Institute of Advanced Medicine, Wakayama Medical University (WMU), Wakayama, Japan.

Development of external genitalia and perineum is the subject of developmental biology as well as toxicology and teratology researches. Cloaca forms in the lower (caudal) end of endoderm. Such endodermal epithelia and surrounding mesenchyme interact with various signals to form the external genitalia. Read More

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November 2018

Italian recommendations for diagnosis and management of congenital myasthenic syndromes.

Neurol Sci 2018 Dec 15. Epub 2018 Dec 15.

Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Via Celoria 11, 20133, Milan, Italy.

Congenital myasthenic syndromes (CMS) are genetic disorders due to mutations in genes encoding proteins involved in the neuromuscular junction structure and function. CMS usually present in young children, but perinatal and adult onset has been reported. Clinical presentation is highly heterogeneous, ranging from mild symptoms to severe manifestations, sometimes with life-threatening respiratory episodes, especially in the first decade of life. Read More

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December 2018

Parental awareness of newborn bloodspot screening in Ireland.

Ir J Med Sci 2018 Dec 15. Epub 2018 Dec 15.

Graduate Entry Medical School and Centre for Interventions in Infection, Inflammation & Immunity (4i), University of Limerick, Limerick, Ireland.

Background: There is little known regarding how familiar parents are with the newborn bloodspot screening (NBS) test or how well parents of a child with a screen-detected condition understand that condition initially.

Aim: The study aim was to examine parental NBS awareness and conditions screened.

Methods: Two studies were conducted: [1] Parents of children with cystic fibrosis (CF) detected via NBS and subsequently, diagnosed (n = 124) completed a telephone questionnaire regarding information they received at the time of NBS. Read More

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December 2018
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Screening and surgery for foramen magnum stenosis in children with achondroplasia: a large, national database analysis.

Authors:

J Neurosurg Pediatr 2018 Dec 14:1-7. Epub 2018 Dec 14.

OBJECTIVEThe goal of this study was to determine the rates of screening and surgery for foramen magnum stenosis in children with achondroplasia in a large, privately insured healthcare network.METHODSRates of screening and surgery for foramen magnum stenosis in children with achondroplasia were determined using de-identified insurance claims data from a large, privately insured healthcare network of over 58 million beneficiaries across the United States between 2001 and 2014. Cases of achondroplasia and screening and surgery claims were identified using a combination of International Classification of Diseases diagnosis codes and Current Procedural Terminology codes. Read More

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December 2018

Health-related quality of life in surgical children and adolescents with congenital heart disease compared with their age-matched healthy sibling: a cross-sectional study from a lower middle-income country, Pakistan.

Arch Dis Child 2018 Dec 15. Epub 2018 Dec 15.

Charles Perkins Centre and Susan Wakil School of Nursing and Midwifery, Sydney Nursing School, University of Sydney, Camperdown, New South Wales, Australia.

Objective: Inconsistencies have been reported in health-related quality of life (HRQOL) in postoperative congenital heart disease (CHD). Despite the need for lifelong care due for residual symptoms, only a few studies have explored cardiac-related HRQOL but none in lower middle-income countries (LMIC). This study therefore addresses the gap by exploring HRQOL and its associated predictors in postoperative CHD in Pakistan. Read More

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December 2018
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Sinus Venosus Defects: Anatomic Variants and Transcatheter Closure Feasibility Using Virtual Reality Planning.

JACC Cardiovasc Imaging 2018 Dec 6. Epub 2018 Dec 6.

Department of Pediatrics (Cardiology), University of Texas Southwestern Medical Center, Children's Medical Center Dallas, Dallas, Texas; Department of Radiology, University of Texas Southwestern Medical Center, Children's Medical Center Dallas, Dallas, Texas.

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December 2018
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[Pulmonary glial heterotopia: Unique lesion in an infant with anencephalic twin].

Ann Pathol 2018 Dec 12. Epub 2018 Dec 12.

Service de pathologie, hôpital universitaire Robert-Debré, AP-HP, 48, boulevard Sérurier, 75019 Paris, France; Université Diderot Paris 7 - SPC, 16, rue Huchard, 75018 Paris, France.

Pulmonary glial heterotopia is an extremely rare entity whose pathophysiology remains unclear. We report for the first time one case of pulmonary glial heterotopia occured in a one-month baby free from any malformation. She has the particularity of being born from monozygotic monochorionic twin pregnancy where her anencephalic exencephalic sister suffered a medical termination of pregnancy. Read More

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December 2018

Anesthetic Considerations for Pediatric Patients With Congenital Long QT Syndrome.

J Cardiothorac Vasc Anesth 2018 Nov 12. Epub 2018 Nov 12.

Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University School of Medicine, Johns Hopkins All Children's Hospital, St. Petersburg, FL.

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November 2018

Involuntary Eye Movements Accompanied by Head Thrusting to View Objects.

Pediatr Neurol 2018 Oct 23. Epub 2018 Oct 23.

Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan.

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October 2018

LARGE expression in different types of muscular dystrophies other than dystroglycanopathy.

BMC Neurol 2018 Dec 15;18(1):207. Epub 2018 Dec 15.

Department of Medical Biology, Hacettepe University Faculty of Medicine, 06100 Sihhiye, Ankara, Turkey.

Background: Alpha-dystroglycan (αDG) is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin globular domains and certain arenaviruses. An important enzyme, known as Like-acetylglucosaminyltransferase (LARGE), has been shown to transfer repeating units of -glucuronic acid-β1,3-xylose-α1,3- (matriglycan) to αDG that is required for functional receptor as an extracellular matrix protein scaffold. The reduction in the amount of LARGE-dependent matriglycan result in heterogeneous forms of dystroglycanopathy that is associated with hypoglycosylation of αDG and a consequent lack of ligand-binding activity. Read More

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December 2018
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Prepared for the Unexpected: Accessory Ovaries with Abernethy Malformation.

J Minim Invasive Gynecol 2018 Dec 12. Epub 2018 Dec 12.

Oregon Health & Science University, Department of Surgery.

Supernumerary and accessory ovaries are collectively coined ectopic ovaries. These are rarely encountered by the benign gynecologist, and are often discovered incidentally during evaluation for other gynecologic, gastrointestinal or urologic pathologies. We report the presentation of a patient with multiple accessory ovaries in addition to a rare congenital anomaly of the splanchnic vasculature called an Abernethy malformation. Read More

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December 2018
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Characteristics and outcomes of patients ≤ 75 years who underwent transcatheter aortic valve implantation: insights from the SOURCE 3 Registry.

Clin Res Cardiol 2018 Dec 14. Epub 2018 Dec 14.

Division of Adult Congenital and Valvular Heart Disease, Department of Cardiovascular Medicine, University Hospital Muenster, Muenster, Germany.

Background: Current trials and registries of transcatheter valve implantation (TAVI) mostly include patients older than 75 years. Little is known about younger patients who undergo this treatment. We investigated comorbidities among patients < 75 years old who underwent TAVI in the SAPIEN 3™ European post-approval SOURCE 3 Registry, and analysed outcomes at 30 days and 1 year. Read More

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December 2018
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