Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Inborn Errors of Metabolism

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

Esophageal Achalasia

Esophageal Achalasia

Esophageal achalasia is a chronic neurogenic disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) and absent or ineffective peristalsis in the distal esophagus. This leads to a functional obstruction without a physical blockage, despite significant disruption of esophageal motility.EtiologyAchalasia is caused by degeneration of the myenteric (Auerbach's) plexus, specifically the loss of inhibitory ganglion cells that produce vasoactive intestinal peptide (VIP)...

Pyloric Obstruction

Pyloric Obstruction

Pyloric obstruction, also referred to as gastric outlet obstruction, is a condition characterized by narrowing or blockage at the pylorus—the muscular valve regulating the flow of stomach contents into the duodenum. When this passage becomes impaired, the stomach cannot effectively empty its contents into the small intestine. This disruption leads to a range of gastrointestinal symptoms, including early satiety, bloating, epigastric pain, postprandial nausea, persistent vomiting, and...

Genomic Imprinting and Inheritance

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

Gastrointestinal Motility Disorders

Gastrointestinal Motility Disorders

Gastrointestinal or GI motility disorders are characterized by irregular gastrointestinal tract movements, disrupting food transit from the mouth to the anus. They are caused by damage or dysfunction in gut muscles or nerves. These disorders can cause symptoms such as severe constipation, diarrhea, abdominal pain, and swallowing difficulties. Disorders can affect any segment of the GI tract and range widely in severity, from common conditions like GERD to life-threatening conditions like...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Recommendations of apex health bodies remain localized: not in conformity with international implementation policy for urological disorders.

The Lancet regional health. Southeast Asia·2024

Same author

Fast track development of Fisetin and Naringenin based economic antianxiety drug using Docking tools.

Asian journal of psychiatry·2022

Same author

Severity of thyroid eye disease and type-2 diabetes mellitus: Is there a correlation?

Indian journal of ophthalmology·2020

Same author

Targeting miRNA for Therapeutics Using a Micronome Based Method for Identification of miRNA-mRNA Pairs and Validation of Key Regulator miRNA.

Methods in molecular biology (Clifton, N.J.)·2018

Same author

Method for Detection of miRNAs in Non-Model Organisms with Unreported Database.

Methods in molecular biology (Clifton, N.J.)·2018

Same author

Antimicrobial resistance profile of Methicillin-resistant <i>Staphylococcus aureus</i> colonizing the anterior nares of health-care workers and outpatients attending the remotely located tertiary care hospital of North India.

Journal of laboratory physicians·2017

Search research articles

Related Experiment Video

Updated: Jun 14, 2026

Robotic Heller Myotomy for Advancements in Surgical Management of Achalasia

Robotic Heller Myotomy for Advancements in Surgical Management of Achalasia

Published on: February 16, 2024

Acquired Gitelman's syndrome: an oxymoron?

Renu Bansal¹, Vinay K Ranga

¹University of Connecticut Health Center, Farmington, CT, USA, bansalrenu@gmail.com

International Urology and Nephrology

|March 23, 2010

Summary

A father with Gitelman syndrome donated a kidney to his daughter with end-stage renal disease. The recipient developed Gitelman syndrome biochemical changes post-transplant, marking a unique case of living kidney donation.

Area of Science:

Nephrology
Genetics
Transplantation

Background:

A 27-year-old woman with end-stage renal disease (ESRD) due to type 1 Diabetes Mellitus required a kidney transplant.
Her father, initially evaluated as a living donor, was incidentally diagnosed with Gitelman syndrome (GS).

Observation:

The kidney transplant between the father with GS and his daughter proceeded without immediate complications.
Post-transplant, the recipient exhibited biochemical abnormalities characteristic of Gitelman syndrome.

Findings:

This case represents the first documented instance of kidney donation from a living donor diagnosed with Gitelman syndrome.
The recipient successfully received a kidney from an affected donor and subsequently presented with donor-related biochemical changes.

Related Experiment Videos

Last Updated: Jun 14, 2026

Robotic Heller Myotomy for Advancements in Surgical Management of Achalasia

Robotic Heller Myotomy for Advancements in Surgical Management of Achalasia

Published on: February 16, 2024

Implications:

Highlights the possibility of successful kidney donation from living donors with Gitelman syndrome.
Suggests careful monitoring for recipients of kidneys from Gitelman syndrome donors for potential biochemical alterations.
Contributes to understanding the clinical manifestations and donor-recipient dynamics in Gitelman syndrome-related transplantation.