Results 11 to 20 of about 1,035 (181)

A Novel SCNN1B Mutation in a Neonate With Systemic Pseudohypoaldosteronism Type 1: Case Report. [PDF]

open access: yesClin Case Rep
ABSTRACT Early recognition of PHA1B in neonates with persistent hyperkalemia and hyponatremia is important for timely intervention. Genetic testing confirms the diagnosis, guiding long‐term management. This case highlights a novel SCNN1B mutation, expanding the genetic spectrum and emphasizing the need for lifelong monitoring to prevent life ...
Bahadoran E, Saffari F, Moghbelinejad S.
europepmc   +2 more sources

Pseudo Bartter Syndrome in anorexia nervosa

open access: yesEating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity, 2022
Anorexia nervosa is a psychiatric disorder with various non-psychiatric manifestations that arise from the self-imposed malnourishment and possible purging behaviors. These medical manifestations or complications may mimic non psychiatric disorders and difficult the diagnosis of an eating disorder.We report the case of a patient with a binge-eating ...
Rodrigo de Alves Pereira Carvalho Saraiva   +5 more
openaire   +2 more sources

Pseudo-Bartter Syndrome in Patients with Cystic Fibrosis and Clinical Features

open access: yesJournal of Behçet Uz Children's Hospital, 2023
Objective: Pseudo-Bartter syndrome (PBS) is a complication of cystic fibrosis (CF) accompanied by electrolyte disorders. We aimed to compare the clinical features of patients diagnosed with CF with or without PBS in our clinic. Method: One hundred twenty-
Mehmet Mustafa Özaslan   +6 more
doaj   +1 more source

The Concise Guide to PHARMACOLOGY 2023/24: G protein-coupled receptors

open access: yesBritish Journal of Pharmacology, Volume 180, Issue S2, Page S23-S144, October 2023., 2023
The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and about 6000 interactions with about 3900 ligands.
Stephen P. H. Alexander   +165 more
wiley   +1 more source

Non‐invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches

open access: yesPrenatal Diagnosis, Volume 43, Issue 4, Page 477-488, April 2023., 2023
Abstract Objectives To develop a flexible droplet digital PCR (ddPCR) workflow to perform non‐invasive prenatal diagnosis via relative mutation dosage (RMD) for maternal pathogenic variants with a range of inheritance patterns, and to compare the accuracy of multiple analytical approaches.
Joe Shaw   +8 more
wiley   +1 more source

Pseudo-bartter Syndrome as the Initial Presentation of Cystic Fibrosis in Infants: A Series of Three cases and Review of Literature [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2018
Cystic Fibrosis (CF) is predominantly a disease of Caucasians, but it is increasingly being recognised in India. The typical presentations of CF are recurrent pneumonia and malabsorption.
Prawin Kumar   +3 more
doaj   +1 more source

THE CONCISE GUIDE TO PHARMACOLOGY 2021/22: G protein‐coupled receptors

open access: yesBritish Journal of Pharmacology, Volume 178, Issue S1, Page S27-S156, October 2021., 2021
The Concise Guide to PHARMACOLOGY 2021/22 is the fifth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of nearly 1900 human drug targets with an emphasis on selective pharmacology (where available), plus links to the open access knowledgebase source of drug targets ...
Stephen P H Alexander   +154 more
wiley   +1 more source

Pseudo-Bartter’s syndrome in patients with cystic fibrosis: A case series and review of the literature [PDF]

open access: yesSrpski Arhiv za Celokupno Lekarstvo, 2015
Introduction. Pseudo-Bartter syndrome (PBS) is characterized by hyponatremic, hypochloremic metabolic alkalosis that mimics Bartter syndrome but with no pathology in the renal tubules.
Vilotijević-Dautović Gordana   +1 more
doaj   +1 more source

[Retracted] Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China

open access: yesEvidence-Based Complementary and Alternative Medicine, Volume 2021, Issue 1, 2021., 2021
Objective. To explore the clinical manifestations, imaging features, and gene mutation characteristics of 6 children with cystic fibrosis (CF) so as to improve the understanding and diagnosis awareness of CF in children and reduce the missed diagnosis and misdiagnosis. Methods.
Yajuan Chu   +6 more
wiley   +1 more source

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