370,004 results match your criteria Congenital Patterned Leukodermas


A multi-laboratory assessment of congenital thrombophilia assays performed on the ACL Top 50 family for harmonisation of thrombophilia testing in a large laboratory network.

Clin Chem Lab Med 2021 Jun 14. Epub 2021 Jun 14.

Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, NSW, Australia.

Objectives: Thrombophilia testing is commonly performed within hemostasis laboratories, and the ACL TOP 50 family of instruments represent a new 'single platform' of hemostasis instrumentation. The study objective was to evaluate these instruments and manufacturer reagents for utility of congenital thrombophilia assays.

Methods: Comparative evaluations of various congenital thrombophilia assays (protein C [PC], protein S [PS], antithrombin [AT], activated protein C resistance [APCR]) using newly installed ACL TOPs 550 and 750 as well as comparative assessments with existing, predominantly STAGO, instrumentation and reagents. Read More

View Article and Full-Text PDF

Evolving Cost-Quality Relationship in Pediatric Heart Surgery.

Ann Thorac Surg 2021 Jun 8. Epub 2021 Jun 8.

Department of Surgery, University of Florida, Gainesville, FL.

Background: For the >40,000 US children undergoing congenital heart surgery annually, the relationship between hospital quality and costs remains unclear. Prior studies report conflicting results and clinical outcomes have continued to improve over time. We examined a large contemporary cohort, aiming to better inform ongoing initiatives seeking to optimize healthcare value in this population. Read More

View Article and Full-Text PDF

Heterozygous Variants of CLPB are a Cause of Severe Congenital Neutropenia.

Blood 2021 Jun 11. Epub 2021 Jun 11.

Washington University School of Medicine, St. Louis, Missouri, United States.

Severe congenital neutropenia (SCN) is an inborn disorder of granulopoiesis. Approximately one-third of cases do not have a known genetic cause. Exome sequencing of 104 persons with congenital neutropenia identified heterozygous missense variants of CLPB (caseinolytic peptidase B) in 5 SCN cases, with 5 more cases identified through additional sequencing efforts or clinical sequencing. Read More

View Article and Full-Text PDF

Complications associated with myocardial bridging in four children without underlying cardiac disease: a case series.

Paediatr Int Child Health 2021 Jun 11:1-7. Epub 2021 Jun 11.

Department of Life Sciences and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Myocardial bridging is largely considered to be a benign, symptomless congenital anomaly of the coronary arteries in which the intramyocardial coronary course is partially 'tunnelled' and leads to vessel compression during ventricular systole. There are few data regarding children. To report on myocardial bridging observed in children seeking medical help in the paediatric emergency room. Read More

View Article and Full-Text PDF

Role of Imaging in Obstetric Interventions: Criteria, Considerations, and Complications.

Radiographics 2021 Jun 11:200163. Epub 2021 Jun 11.

From the Department of Radiology and Biomedical Imaging, University of California San Francisco, 505 Parnassus Ave, Box 0628, San Francisco, CA 94143-0628 (P.J., V.A.F.); Department of Radiology and Biomedical Imaging, Yale University School of Medicine, New Haven, Conn (M.V.R.); Department of Radiology, Winthrop University Hospital, Mineola, NY (D.S.K.); and Department of Radiology, University of Washington, Seattle, Wash (M.M.).

US has an established role in the prenatal detection of congenital and developmental disorders. Many pregnant women undergo US at 18-20 weeks of gestation for assessment of fetal anatomy and detection of structural anomalies. With advances in fetoscopy and minimally invasive procedures, in utero fetal interventions can be offered to address some of the detected structural and physiologic fetal abnormalities. Read More

View Article and Full-Text PDF

The fetal outcomes after neoadjuvant platinum and paclitaxel chemotherapy during pregnancy: analysis of three cases and review of the literature.

Arch Gynecol Obstet 2021 Jun 11. Epub 2021 Jun 11.

Department of Gynecologic Oncology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, 17 Qihelou St, Dongcheng District, Beijing, 100006, China.

Objective: Data on the outcomes of fetus who are exposed to neoadjuvant platinum and paclitaxel chemotherapy during pregnancy are lacking.

Methods: Relevant data were abstracted from patients in our institution, PubMed, Embase and Cochrane Library databases. The primary assessment was the frequency of fetal death and congenital abnormalities. Read More

View Article and Full-Text PDF

Implants Placed in Adolescents Followed for Up to 15.5 Years: A Retrospective Case Series.

Int J Oral Maxillofac Implants 2021 May-Jun;36(3):561-568

Purpose: To evaluate the clinical outcomes of unsplinted implant-supported single crowns placed in adolescents, ages 10 to 19 years, and followed up from 5 to 15 years.

Materials And Methods: This retrospective case series evaluated the outcomes of implant-supported single crowns placed in adolescents between June 2002 and January 2015. The patients were treated with locking-taper connection implants under a two-stage rehabilitation technique. Read More

View Article and Full-Text PDF

Associations and interaction effects of maternal smoking and genetic polymorphisms of cytochrome P450 genes with risk of congenital heart disease in offspring: A case-control study.

Medicine (Baltimore) 2021 Jun;100(23):e26268

Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University.

Abstract: To assess associations and interactions of maternal smoking and cytochrome P450 (CYP450) genetic variants with the developments of congenital heart disease (CHD) and specific subtypes.A case-control study of 654 cases and 666 controls was conducted from November 2017 to March 2020. The exposures of interest were maternal active and passive smoking before/in the early pregnancy and CYP450 genetic polymorphisms. Read More

View Article and Full-Text PDF

Comparison of viscocanalostomy plus suture-assisted near-360-degree trabeculotomy and viscocanalostomy plus rigid probe trabeculotomy in primary congenital glaucoma.

Acta Ophthalmol 2021 Jun 11. Epub 2021 Jun 11.

Department of Ophthalmology, The Second Affiliated Hospital of Nanjing Medical University, Nanjing, China.

Purpose: To compare the efficacy and safety of viscocanalostomy plus near-360-degree suture trabeculotomy (VST) with viscocanalostomy plus rigid probe trabeculotomy (VT) in treating primary congenital glaucoma (PCG) over a one-year follow-up.

Methods: This consecutive retrospective study included patients with PCG confirmed within 3 years of age from March 2017 to October 2019. Efficacy was evaluated by comparing the postoperative intraocular pressure (IOP) curve and the success rate at one year after surgery. Read More

View Article and Full-Text PDF

Cicatricial eyebrow restoration using the follicular unit extraction technique.

J Cosmet Dermatol 2021 Jun 11. Epub 2021 Jun 11.

Sultan Abdulhamid Han Education and Training Hospital Department of Plastic Reconstructive and Aesthetic Surgery.

Introduction: Cicatricial eyebrow loss that occurs after trauma or burns considerably reduces a person's self-confidence. Several methods, either surgical or nonsurgical, have been defined to reconstruct eyebrows. This study focused on eyebrow restoration using the atraumatic follicular unit extraction (FUE) technique in patients and emphasized certain details that should be considered during the treatment process. Read More

View Article and Full-Text PDF

Bioptome-assisted stent repositioning in the case of stent migration during balloon-expandable stenting for coarctation of the aorta.

Cardiol Young 2021 Jun 11:1-3. Epub 2021 Jun 11.

Department of Pediatric Cardiology and Congenital Heart Disease, Max Hospital, Saket, Delhi, India.

Coarctation of aorta is commonly treated with endovascular interventions such as coarctation stenting. Migration of stent is the most dreaded complication of coarctation stenting. A 60-year-old lady with severe malaligned coarctation underwent endovascular stent placement. Read More

View Article and Full-Text PDF

Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations.

Am J Med Genet A 2021 Jun 11. Epub 2021 Jun 11.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

Oncogenic RAS variants lead to constitutive overactivation and increased signal transduction into downstream pathways. They are found as somatic driver events in various types of human cancer. In a somatic mosaic status, the same RAS variants have been associated with a wide spectrum of focal or segmental tissue dysplasia and overgrowth including various types of congenital nevi, vascular malformations, and other changes (mosaic RASopathies). Read More

View Article and Full-Text PDF

Megalocornea, anterior megalophthalmos, keratoglobus and associated anterior segment disorders: A Review.

Clin Exp Ophthalmol 2021 Jun 10. Epub 2021 Jun 10.

Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.

Megalocornea and anterior megalophthalmos (megalocornea spectrum) disorders are typically defined by corneal diameter >12.5 mm in the absence of elevated intraocular pressure. Clinical features overlap with keratoglobus but are distinct from buphthalmos and severe (globus) keratoconus. Read More

View Article and Full-Text PDF

Comparison of the early cardiac electromechanical remodeling following transcatheter and surgical secundum atrial septal defect closure in adults.

Egypt Heart J 2021 Jun 10;73(1):53. Epub 2021 Jun 10.

Cardiology Department, Faculty of Medicine, Assiut University, Assiut, Egypt.

Background: Secundum atrial septal defect (ASD) closure leads to electrical and mechanical remodeling that occurs early after shunt disappearance. The relationship between electromechanical remodeling using electrocardiogram (ECG) and cardiac magnetic resonance (CMR) after percutaneous and surgical closure has not yet been recorded in prospective studies.

Objective: We thought to study right atrium (RA) and right ventricle (RV) changes by CMR 3 months after transcatheter and surgical closure and their comparison with electrical remodeling by ECG. Read More

View Article and Full-Text PDF

Acute effects of inhaled iloprost on intracardiac conduction in patients with pulmonary arterial hypertension.

Herz 2021 Jun 10. Epub 2021 Jun 10.

Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Center, Training and Research Hospital, University of Health Sciences, İstasyon Mah. Turgut Özal Bulvarı No:11 Küçükçekmece, Istanbul, Turkey.

Background: Pulmonary arterial hypertension (PAH) is a severe, life-threatening disorder despite the availability of specific drug therapy. A lack of endogenous prostacyclin secondary to downregulation of prostacyclin synthase in PAH may contribute to vascular pathologies. Therefore, prostacyclin and its analogs including inhaled iloprost may decrease pulmonary arterial pressure and ventricular pressure. Read More

View Article and Full-Text PDF

Outcomes of sustained fetal tachyarrhythmias after transplacental treatment.

Heart Rhythm O2 2021 Apr 9;2(2):160-167. Epub 2021 Mar 9.

Obstetric and Maternal Fetal Medicine and EA7328.

Background: Fetal tachyarrhythmia is a condition that may lead to cardiac dysfunction, hydrops, and death. Despite a transplacental treatment, failure to obtain or maintain sinus rhythm may occur.

Objective: We aimed to analyze the perinatal outcomes of sustained fetal tachyarrhythmias after in utero treatment. Read More

View Article and Full-Text PDF

Blood culture negative infective endocarditis in adult congenital heart disease patients with prosthetic grafts: a case series.

Eur Heart J Case Rep 2021 Mar 31;5(3):ytab106. Epub 2021 Mar 31.

Department of Cardiology, Wessex Congenital Cardiac Unit, University Hospital Southampton NHS Foundation Trust, Tremona Road, Southampton, Hampshire SO16 6YD, UK.

Background: Blood culture negative infective endocarditis (BCNIE) is often a diagnostic challenge in adult congenital heart disease patients leading to misdiagnosis, treatment delay and associated high mortality. Studies of BCNIE in adult congenital heart disease patients repaired with prosthetic cardiovascular grafts are limited.

Case Summary: We report two cases of BCNIE where serology testing, multiple polymerase chain reaction testing of explanted valve material and multi-modality imaging including F-fluorodeoxyglucose positron emission tomography/computed tomography (F-FDG PET/CT) were utilized not only to confirm the diagnosis but also to guide management strategy and inform prognosis. Read More

View Article and Full-Text PDF

Severe baffle leak after Takeuchi repair successfully treated with coronary bypass and percutaneous baffle closure: a case report.

Eur Heart J Case Rep 2021 Mar 21;5(3):ytab074. Epub 2021 Mar 21.

Division of Interventional Cardiology, Department of Cardiology, University of Rochester Medical Center, 601 Elmwood Ave, Rochester, NY 14642, USA.

Background: Anomalous left coronary artery from the pulmonary artery is a rare congenital abnormality that requires surgical correction.

Case Summary: We describe the case of a 33-year-old female with a history of anomalous left coronary artery of the pulmonary artery who presents with exertional angina. She underwent a Takeuchi repair that was complicated by a baffle leak. Read More

View Article and Full-Text PDF

Cardiogenic shock in the context of newly diagnosed anomalous origin of the right coronary artery originating from the pulmonary artery: a case report.

Eur Heart J Case Rep 2021 Mar 31;5(3):ytab030. Epub 2021 Mar 31.

Department of Medicine, Division of Cardiology, McMaster University, 1200 Main Street West, Hamilton, ON L8S 4L8, Canada.

Background: Anomalous right coronary artery (RCA) from the pulmonary artery (ARCAPA) is a rare congenital heart abnormality with varying clinical presentations, for which multiple imaging modalities are often required for diagnosis.

Case Summary: We present a case of a 76-year-old female presenting with 2 weeks of palpitations and shortness of breath who was found to be in rapid atrial fibrillation (AF) with congestive heart failure. Despite initial medical management, the patient developed cardiogenic shock with anuric renal failure. Read More

View Article and Full-Text PDF

Case Report: Complicated Meckel Diverticulum Spectrum in Children.

Front Surg 2021 25;8:674382. Epub 2021 May 25.

Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.

Meckel diverticulum (MD) is the most common congenital anomaly of the intestines, with an incidence of 2% of the general population. It can present as various clinical features with complications and be life threatening if diagnosis is delayed and treatment late. We report three pediatric cases with complicated MD: one female presented with small-bowel obstruction, one male with peritonitis, and one female with severe iron-deficiency anemia, without gross gastrointestinal bleeding nor any ectopic gastric mucosa. Read More

View Article and Full-Text PDF

Trigger finger in children with hurler syndrome - distribution pattern and treatment options.

GMS Interdiscip Plast Reconstr Surg DGPW 2021 5;10:Doc04. Epub 2021 May 5.

Department of Plastic, Aesthetic, Hand and Reconstructive Surgery, Hannover Medical School, Hannover, Germany.

Mucopolysaccharidosis is a rare and congenital autosomal recessive lysosomal storage disorder of glycosaminoglycans. An enzyme defect leads to cell, tissue and organ dysfunction. Carpal tunnel syndrome and trigger finger are the results of mucopolysaccharid deposition. Read More

View Article and Full-Text PDF

Whole-Exome Sequencing Reveals a Rare Variant of Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity.

Front Genet 2021 25;12:641925. Epub 2021 May 25.

Human Genetics and Toxicology Laboratory, Section of Genetics, Department of Zoology, Aligarh Muslim University, Aligarh, India.

Non-syndromic hearing loss (NSHL) is one of the most frequent auditory deficits in humans characterized by high clinical and genetic heterogeneity. Very few studies have reported the relationship between (Locus: DFNB9) and hereditary hearing loss in India. We aimed to decipher the genetic cause of prelingual NSHL in a large affected Muslim consanguineous families using whole-exome sequencing (WES). Read More

View Article and Full-Text PDF

A Giant Arteriovenous Malformation and Fistula in a Newborn with Parkes Weber Syndrome. Case Report.

Acta Med Litu 2020 23;27(2):90-99. Epub 2020 Dec 23.

Riga Stadins University, Riga, LatviaChildren's Clinical University hospital, Riga, Latvia.

Parkes Weber syndrome (PWS) is a rare congenital condition characterized by capillary cutaneous malformation, limb hypertrophy and multiple arteriovenous fistulas of the affected extremity. Another feature is a port-wine stain on the affected area. PWS is caused by genetic variations in the RAS p21 protein activator () gene which affects the development of the vascular system. Read More

View Article and Full-Text PDF
December 2020

Pregnancy in a Unicornuate Uterus with Non-Communicating Rudimentary Horn: Diagnostic and Therapeutic Challenges.

Authors:
Ratko Delić

Acta Med Litu 2020 21;27(2):84-89. Epub 2020 Dec 21.

Department of Obstetrics and Gynecology, General and Teaching Hospital Celje, Slovenia.

Unicornuate uterus with non-communicating rudimentary horn is a type of congenital uterine abnormality that occurs as a consequence of the arrested development of one of the two Müllerian ducts. Patients with unicornuate uterus have increased incidence of obstetric and gynaecological complications. We present a report of a clinical case of a 28-years-old female, who was referred to the hospital for evaluation of her infertility. Read More

View Article and Full-Text PDF
December 2020

Effect of Lidocaine Pre-Treatment on Protamine-Induced Pulmonary Vascular Reaction During the Repair of Congenital Heart Disease.

Int J Gen Med 2021 3;14:2249-2258. Epub 2021 Jun 3.

Department of Anesthesiology, General Hospital of Tianjin Medical University, Tianjin, 300074, People's Republic of China.

Background: Protamine is a polycationic, and a strong basic peptide isolated from Clupeidae or Salmonidae fishes' sperm, which is rich in arginine and highly alkaline.

Objective: To explore the effect of lidocaine pre-treatment on protamine-induced pulmonary vascular reaction during the repair of congenital heart disease.

Methods: Eighty patients undergoing repair of congenital heart disease were randomly divided into four groups: A (non-pulmonary hypertension + lidocaine pre-treatment) group, A (non-pulmonary hypertension + normal saline) group, B (pulmonary hypertension + lidocaine pre-treatment) group, and B (pulmonary hypertension + normal saline) group. Read More

View Article and Full-Text PDF

Timing of umbilical cord clamping among infants with congenital heart disease.

Prog Pediatr Cardiol 2020 Dec 28;59. Epub 2020 Oct 28.

Center for Perinatal Research, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH.

The optimal timing of clamping and cutting the umbilical cord at birth among infants with congenital heart disease (CHD) remains a subject of controversy and debate. The benefits of delayed umbilical cord clamping (DCC) among term infants without CHD are well described, but the evidence base for DCC among infants with CHD has not been characterized adequately. The goals of the present review are to: 1) compare outcomes of DCC versus early cord clamping (ECC) in term (≥37 weeks of gestation) infants; 2) discuss potential risk/benefit profiles in applying DCC among term infants with CHD; 3) use rigorous systematic review methodology to assess the quality and quantity of published reports on cord clamping practices among term infants with CHD; 4) identify needs and opportunities for future research and interdisciplinary collaboration. Read More

View Article and Full-Text PDF
December 2020

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.

Genet Med 2021 Jun 10. Epub 2021 Jun 10.

University of Nottingham, Queen's Medical Centre, Nottingham, UK.

Purpose: Rare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported in patients with tetralogy of Fallot (TOF). However, their role in disease causality and pathogenesis remains unclear.

Methods: We conducted exome sequencing in a familial case of TOF and large-scale genetic studies, including burden testing, in >1,500 patients with TOF. Read More

View Article and Full-Text PDF

Neurally adjusted ventilatory assist in neonates with congenital diaphragmatic hernia.

J Perinatol 2021 Jun 10. Epub 2021 Jun 10.

Division of Neonatology, Children's Mercy Kansas City, Kansas City, MO, USA.

Objective: To measure short-term outcomes of neonates with congenital diaphragmatic hernia (CDH) while on Neurally Adjusted Ventilator Assist (NAVA), and to measure the impact of a congenitally abnormal diaphragm on NAVA ventilator indices.

Study Design: First, we conducted a retrospective-cohort analysis of 16 neonates with CDH placed on NAVA over a treatment period of 72 h. Second, we performed a case-control study comparing NAVA level and Edi between neonates with CDH and those without CDH. Read More

View Article and Full-Text PDF

Neurodevelopmental outcome of patients with congenital gastrointestinal malformations: a systematic review and meta-analysis.

Arch Dis Child Fetal Neonatal Ed 2021 Jun 10. Epub 2021 Jun 10.

Department of Pediatrics, Emma Neuroscience Group, Amsterdam Reproduction & Development Research Institute, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Aim: Children with congenital gastrointestinal malformations may be at risk of neurodevelopmental impairment due to challenges to the developing brain, including perioperative haemodynamic changes, exposure to anaesthetics and postoperative inflammatory influences. This study aggregates existing evidence on neurodevelopmental outcome in these patients using meta-analysis.

Method: PubMed, Embase and Web of Science were searched for peer-reviewed articles published until October 2019. Read More

View Article and Full-Text PDF