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Congenital Diseases Research

09:38 EDT 27th May 2019 | BioPortfolio

Eisenmenger syndrome and other types of pulmonary arterial hypertension related to adult congenital heart disease.

: Eisenmenger syndrome (ES) is the most advanced form of pulmonary arterial hypertension (PAH) in patients with congenital heart disease (CHD). It is characterised by a severe rise in pulmonary vascular resistance resulting in shunt reversal and cyanosis. : In this paper, an overview of ES and other types of PAH related to CHD (PAH-CHD) in adults is provided. The modern management of PAH-CHD in te...

Clinical and x-ray oral evaluation in patients with congenital Zika Virus.

The aim of this study was to investigate possible malformations in the soft, bone and/or dental tissues in patients with congenital Zika Virus (ZIKV) by clinical and x-ray evaluation.

Aortopulmonary window in adults: A rare entity leading to Eisenmenger syndrome.

An aortopulmonary window (APW) is a rare congenital heart defect involving an abnormal communication between the ascending aorta and the pulmonary trunk with separate aortic and pulmonary valves. This defect accounts for 0.2% of all congenital cardiac anomalies and if left untreated can lead to Eisenmenger syndrome, severe pulmonary hypertension, heart failure, and poor survival. The authors herei...

Management of antithrombin deficiency: an update for clinicians.

. Antithrombin is a serpin that inhibits multiple procoagulant serine proteases and acts as an endogenous anticoagulant. Thus, congenital antithrombin deficiency constitutes a major thrombophilic state, the most severe so far. . In the present work, we globally review the biology, genetics, diagnosis, and management of congenital antithrombin deficiency, and also discuss puzzling questions and fut...

The Ongoing Controversy of Late Probing for Congenital Nasolacrimal Duct Obstructions.

Effect of Probing in Congenital Nasolacrimal Duct Obstruction in Children Older Than 2 Years.

To determine the effect of probing for congenital nasolacrimal duct obstruction in children older than 2 years.

Cortical Visual Impairment in Congenital Cytomegalovirus Infection.

To describe the presentation, evolution, and long-term outcome of cortical visual impairment (CVI) in patients with symptomatic congenital cytomegalovirus (CMV) infection, and to identify risk factors for the development of CVI in patients with symptomatic congenital CMV.

Height Velocity defined metabolic Control in Children with Congenital Adrenal Hyperplasia using urinary GC-MS Analysis.

Treatment of children with classic congenital adrenal hyperplasia (CAH) with glucocorticoids is a difficult balance between hypercortisolism and hyperandrogenism. Biochemical monitoring of treatment is not well defined. Achievement of a normal growth rate is the most important therapeutic goal.

Ancillary referral patterns in infants after initial assessment in a cardiac developmental outcomes clinic.

Neurodevelopmental impairment is common after surgery for congenital heart disease (CHD) in infancy. While neurodevelopmental follow-up of high-risk patients has increased, the referral patterns for ancillary services following initial evaluation have not been reported. The aim of this study is to describe the rates and patterns of referral at the initial visit to our outcomes clinic of patients w...

Neonatal Mandibular Molding for Congenital Open Bite: 10 Year Follow-Up.

Newborn screening for congenital cytomegalovirus infection…it is time.

12 novel atypical porcine pestivirus genomes from neonatal piglets with congenital tremors: A newly emerging branch and high prevalence in China.

Atypical porcine pestivirus (APPV), a newly discovered member of the genus Pestivirus, is considered to be associated with congenital tremors (CT) in piglets. From June 2016 to January 2018, 440 serum and tissue samples from CT-affected piglets in Anhui, Guangdong and Guangxi provinces were collected to detect APPV. The results showed a high level of 63.4% preference for APPV in 27 swine farms and...

Correction of adult-type VSD causing aortic valve endocarditis through aortotomy.

Ventricular septal defects are the most common congenital abnormality diagnosed in children but account for only 10 percent of congenital heart defects in adults. Although many defects close spontaneously before adulthood, many others persist, predisposing to endocarditis, and other complications. Herein, we report a case of a known, asymptomatic, perimembranous ventricular septal defects that has...

Risk factors of death in newborns with congenital diaphragmatic hernia.

To investigate risk factors of death in newborns with congenital diaphragmatic hernia (CDH). A total of 126 newborns with CDH from June 2012 to September 2018 were enrolled. Concomitant malformations were recorded by descriptive analysis. Newborns received surgical treatment (=120) for CDH were divided into survival group and fatal group. The risk factors of death were analyzed by univariate and m...

Contribution of congenital cytomegalovirus (cCMV) to permanent hearing loss in a highly seropositive population: "The BraCHS study".

The exact contribution of congenital CMV infection (cCMV) to congenital and early-onset permanent hearing loss in highly seropositive populations is unknown.

Navigating the non-coding genome in heart development and Congenital Heart Disease.

Congenital Heart Disease (CHD) is characterised by a wide range of cardiac defects, from mild to life-threatening, which occur in babies worldwide. To date, there is no cure to CHD, however, progress in surgery has reduced its mortality allowing children affected by CHD to reach adulthood. In an effort to understand its genetic basis, several studies involving whole-genome sequencing (WGS) of pati...

Prominent venous circulation and thick lips in an 8-year-old boy with congenital neutropenia.

Optic Nerve Aplasia, Chorioretinal Hypoplasia, and Microcornea After In Utero Infection With Cytomegalovirus.

Optic nerve aplasia (ONA) is a rare phenomenon characterized by absence of the optic nerve, retinal blood vessels, and retinal ganglion cells. The authors report a case of optic nerve aplasia in association with congenital cytomegalovirus (CMV) infection, conveyed through multimodal imaging including color fundus photography, fluorescein angiography, and B-scan ultrasonography. Furthermore, the au...

Congenital cutaneous pyogenic granuloma: report of two cases and review of the literature.

Severe symptomatic congenital Cytomegalovirus infection due to maternal CMV primary infection after 20 weeks of gestation.

Glucocorticoid activity of adrenal steroid precursors in untreated patients with congenital adrenal hyperplasia.

We describe clinical features and biochemical characteristics of a unique population of severely affected untreated patients with congenital adrenal hyperplasia (CAH) from an Indonesian population, with proven cortisol deficiency but without clinical signs of cortisol deficiency. We evaluated the in vitro glucocorticoid activity of all relevant adrenal steroid precursors occurring in CAH patients.

Prenatal maternal biomarkers for the early diagnosis of congenital malformations: A review.

Congenital anomalies cause ~7% of all neonatal deaths, many of which have no identified pathophysiological cause. Because accurate and robust laboratory tests are unavailable for most birth defects, physicians rely on imaging such as ultrasound and MRI. Biomarkers from human body fluids are considered a powerful diagnostic tool to assess human disease and health as it mirrors an individual's condi...

Congenital Atrial Haemangioma

Introduction Primary cardiac tumours are rare. We report the first known case of congenital cardiac haemangioma in Ireland. Case A neonate presented with symptoms arising from a congenital atrial haemangioma on day three of life. The mass was successfully excised via median sternotomy and bicaval cannulation for cardiopulmonary bypass. The patient was discharged day ten postoperatively and remaine...

Clinical spectrum of congenital tibial hemimelia in 35 limbs of 24 patients: A single center observational study from India.

Considering the paucity of reports on large series of patients with tibial hemimelia, we assessed the clinical spectrum of this rare congenital disorder in patients seen at a single Indian center over 10 years.

Functional outcomes in children with anatomically repaired transposition of the great arteries with regard to congenital ventricular septal defect and coronary pattern.

Despite decreasing mortality, functional impairments in children with transposition of the great arteries (TGA) are still a concern. This study analyses health-related physical fitness (HRPF), arterial stiffness and health-related quality of life (HRQoL) in children with anatomically repaired TGA regarding congenital ventricular septal defect (VSD) and coronary patterns.

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