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PubMed Journals Articles About "Congenital Disorders" RSS

16:34 EDT 15th September 2019 | BioPortfolio

Congenital Disorders PubMed articles on BioPortfolio. Our PubMed references draw on over 21 million records from the medical literature. Here you can see the latest Congenital Disorders articles that have been published worldwide.

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Showing "Congenital Disorders" PubMed Articles 1–25 of 7,800+

Hyperkinetic movement disorders: Expanding the phenotype of congenital disorders of glycosylation.

Congenital disorders of glycosylation (CDG) constitutes a rare group of inborn error of metabolism with myriad clinical presentation due to multisystem involvement. They are caused by mutations in the genes encoding for enzymes involved in the biosynthesis or remodelling of the oligosaccharide moieties of glycoprotein and glycolipid glycans. This article is protected by copyright. All rights reserved.


Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations.

Congenital fibrinogen disorders are poorly explored in Slavic populations. The aim of this study was to characterize the genetic background and clinical manifestations of fibrinogen disorders in the Polish case series.

Congenital disorders of glycosylation and the challenge of rare diseases.

The congenital disorders of glycosylation are a diverse group of disorders, which present both common and unique challenges in the diagnosis of rare disorders. These disorders affect a variety of structures and processes in their synthesis. Studies by Himmelreich and by Ng and their coworkers are discussed as they exemplify the extremes of such challenges. These include ascertainment bias associated with the recognition of only extreme phenotypes, variant classification limited by the rarity of the observed...


Desmopressin acetate (DDAVP) for preventing and treating acute bleeds during pregnancy in women with congenital bleeding disorders.

Congenital bleeding disorders can cause obstetric haemorrhage during pregnancy, labour and following delivery. Desmopressin acetate (DDAVP) is found to be an effective drug which can reduce the risk of haemorrhage and can also stop bleeding in certain congenital bleeding disorders. Its use in pregnancy has been controversial. Hence beneficial and adverse effects of DDAVP in these groups of pregnant women should be evaluated.This is an update of a Cochrane Review first published in 2013 and updated in 2015.

Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.

Although hearing loss is a well-known symptom of mitochondria-related disorders, it is not clear how often it is a congenital and cochlear impairment. The Newborn Hearing Screening Program (NHSP) enables to distinguish congenital cochlear deafness from an acquired hearing deficit. The initial aim of the study was to research the frequency of the congenital cochlear hearing loss among patients with various gene defects resulting in mitochondrial disorders. The research process brought on an additional gain: ...

Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity.

The congenital myasthenic syndromes are a heterogeneous group of genetic disorders characterized by an abnormal synaptic transmission in the neuromuscular plate.

Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.

Congenital nystagmus is one of the most common neuro-ophthalmological disorders. X chromosome-linked forms are associated with pathogenic variants of the GPR143 and FRMD7 genes.

Therapy Options for Infants with Congenital Cytomegalovirus Infection - Implications for Setting Up Neonatal Screening Programs.

The number of diseases covered by universal neonatal screening in Germany has risen steadily from 1 (phenylketonuria) in 1968 to 17 (with hearing impairment and congenital hip dysplasia) in 2018. Treatment, however, of disorders diagnosed by screening may harm children, as failed neuroblastoma screening has shown. There are several pilot studies to detect congenital cytomegalovirus (CMV) infection but no consensus as to the treatment of the infants identified.

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies.

Congenital disorders of glycosylation are rare inherited diseases affecting many different proteins. The lack of glycosylation notably affects the hemostatic system and leads to deficiencies of both procoagulant and anticoagulant factors.

Increased epicardial adipose tissue in young adults with congenital heart disease comorbid with major depressive disorder.

Congenital heart disease is the most common congenital malformation. In adult congenital heart disease (ACHD), the prevalence of major depressive disorder (MDD) is increased. Beyond its immanent health risks, increased epi‑ and paracardial adipose tissue has been described in MDD. Epicardial adipose tissue (EAT) is a fat depot surrounding the heart, and it is hypothesized to be associated with coronary artery disease, left-ventricular dysfunction and atrial fibrillation, being frequent problems in ACHD lo...

Sonographic Detection of Seizure-Like Activity in Fetuses with Congenital Infection: Report of Three Cases and Review of the Literature.

Fetal seizure is a very rare prenatal finding and associated with an almost invariably poor outcome, the most common causes being hypoxic-ischemic encephalopathy, congenital anomalies of either the central nervous system (CNS) or musculoskeletal system, and metabolic disorders. The prenatal detection of seizure-like activity in fetuses with congenital infection has not been previously reported. In this report, we describe 3 cases of seizures in fetuses with congenital infection including Zika virus (n = 2) ...

Brain structure in children with congenital visual disorders and visual impairment.

To examine if congenital visual impairment is associated with differences in brain anatomy in children.

Congenital lung malformations: a novel application for lung ultrasound?

Congenital lung malformations (CLMs) include a group of different disorders. With widespread use of antenatal ultrasonography (aUS) and increased use of pre-natal magnetic resonance imaging (MRI), CLMs are increasingly detected, nevertheless the best postnatal imaging approach is not yet well defined: newborns usually undergo several chest X-rays and eventually computed tomography to confirm the diagnosis. In this case series, we show lung ultrasound features of three different cases of congenital lung malf...

Cross-sectional imaging of congenital pulmonary artery anomalies.

Congenital pulmonary artery (PA) anomalies comprise a rare and heterogeneous spectrum of disease, ranging from abnormal origins to complete atresia. They may present in early infancy or more insidiously in adulthood, often in association with congenital heart disease such as tetralogy of Fallot or other syndromes. In recent years, cross-sectional imaging, including computed tomography (CT) and magnetic resonance imaging (MRI), has become widely utilized for the noninvasive assessment of congenital PA diseas...

Congenital heart disease associated with congenital diaphragmatic hernia: A systematic review on incidence, prenatal diagnosis, management, and outcome.

The purpose of this study was to evaluate the impact of congenital heart disease (CHD) on infants with congenital diaphragmatic hernia (CDH).

Congenital Hypopituitarism: Various Genes, Various Phenotypes.

The ontogenesis and development of the pituitary gland is a highly complex process that depends on a cascade of transcription factors and signaling molecules. Spontaneous mutations and transgenic murine models have demonstrated a role for many of these factors, including , , , , , , , , , , , and in the etiology of congenital hypopituitarism. Genetic mutations in any of these factors can lead to congenital hypopituitarism, which is characterized by the deficiency in one or more pituitary hormones. The phen...

Research progress of congenital preauricular fistula.

Congenital preauricular fistula can be sporadic or genetic. When inherited, it exhibits incomplete autosomal dominant genetic patterns. It can occur alone or with other diseases such as branchio-oto-renal syndrome. According to the position of fistula opening, congenital ear fistula can be divided into four categories: congenital preauricular fistula, congenital posterior ear fistula, congenital auricular fistula and congenital external auditory canal fistula. Congenital auricle fistula can be subdivided in...

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.

Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins whose function is essential for the integrity of neuromuscular transmission. This review updates the reader on the expanding phenotypic spectrum and suggested improved treatment strategies.

Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia.

Congenital Adrenal Hyperplasia (CAH) was among the first genetic disorders included in newborn screening (NBS) programs worldwide, based on 17α-hydroxyprogesterone (17-OHP) levels in dried blood spots. However, the success of NBS for CAH is hampered by high rates of false positive (FP) rates, especially in preterm and low birth-weight infants.

Just choice: a Danielsian analysis of the aims and scope of prenatal screening for fetal abnormalities.

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 ...

New data from the Italian National Register of Congenital Coagulopathies, 2016 Annual Survey.

In Italy, the National Register of Congenital Coagulopathies (NRCC) collects epidemiological and therapeutic data from patients affected by haemophilia A (HA), haemophilia B (HB), von Willebrand's disease (vWD) and other rare coagulation disorders. Here we present data from the 2016 annual survey.

Common Pediatric Airway Disorders.

Pediatric airway disorders may be congenital (anatomical) or acquired (infectious) and may involve the upper, lower, or entire airway, with obstruction being a common feature. The pathophysiology of upper airway obstruction in infants, children, and adolescents is distinctly different due to the anatomic differences that evolve with growth. Accordingly, clinical presentation and consequences of airway obstruction vary by age. This article reviews the common upper airway disorders by age with a review of cla...

Antibiotic treatment for newborns with congenital syphilis.

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 antibi...

Brain vascular changes in adults with congenital heart disease: A systematic review.

Less information is available on brain integrity in adults with congenital heart disease than on brain changes in newborns and children with heart defects. Nevertheless, the number of adults with congenital heart disease is increasing rapidly and it has been shown that adults with congenital heart disease develop dementia almost twice as frequently as adults in the general population. In the context of a rapidly growing congenital heart disease population, neuroradiological-oriented investigations of biomar...

Graft failure after reduced-intensity stem cell transplantation for congenital sideroblastic anemia.

Congenital sideroblastic anemia (CSA) is a rare hereditary disease causing disorders of hemoglobin synthesis. Severe, progressive congenital sideroblastic anemia becomes transfusion dependent and results in iron overload. In such cases, patients must undergo stem cell transplantation (SCT) before critical organ dysfunction occurs. However, there has been no consensus on the criteria for SCT for congenital sideroblastic anemia. A 17-year-old Japanese boy was newly diagnosed with congenital sideroblastic anem...


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