Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pleiotropy01:33

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,...
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Genomic Imprinting and Inheritance02:30

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...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Personality Disorders: Paranoid and Schizoid01:22

Personality Disorders: Paranoid and Schizoid

Personality disorders represent enduring cognition, affect, and behavior patterns that significantly deviate from societal norms. These maladaptive traits often lead to difficulties in various domains, including interpersonal relationships, occupational settings, and overall psychological well-being. Paranoid personality disorder and schizoid personality disorder are two distinct conditions marked by odd or eccentric behavior.
Paranoid Personality Disorder
Paranoid personality disorder is...

You might also read

Related Articles

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

Sort by
Same journal

Impact of Obesity on the Association Between Salt Intake and Blood Pressure in Adult Men With Hypertension Who Participated in the Remote Lifestyle Intervention.

Journal of obesity·2026
Same journal

A Healthy Diet Intervention Alters Food Preferences and Eating Behaviours Without Changing Appetite, Adipokines or Glucose Homoeostasis.

Journal of obesity·2026
Same journal

Risk of Type 2 Diabetes According to Body Mass Index, Television Viewing Time, and Their Combination in the Japanese Population: Findings From the Japan Collaborative Cohort Study.

Journal of obesity·2026
Same journal

Antibiotic Use in the First 2 Years of Life Is Related to Longitudinal BMI Trajectories From 0 to 18 years: A Prospective Cohort Study.

Journal of obesity·2026
Same journal

Low-Density Lipoprotein Estimated by Various Equations in Patients With Obesity.

Journal of obesity·2026
Same journal

Prevalence and Factors Associated With Severe Obesity Among U.S. Adults: A Cross-Sectional Study.

Journal of obesity·2026

Related Experiment Video

Updated: May 17, 2026

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder
08:30

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

Published on: September 6, 2024

Prader-willi syndrome: clinical aspects.

Grechi Elena1, Cammarata Bruna, Mariani Benedetta

  • 1Endocrine Unit, Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 20132 Milan, Italy.

Journal of Obesity
|November 8, 2012
PubMed
Summary

Prader-Willi Syndrome (PWS) is a genetic disorder affecting chromosome 15, causing hormonal issues, hyperphagia, and behavioral problems. Early diagnosis and multidisciplinary care are crucial for managing PWS complications and improving patient outcomes.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis
05:52

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis

Published on: November 21, 2013

Related Experiment Videos

Last Updated: May 17, 2026

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder
08:30

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

Published on: September 6, 2024

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis
05:52

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis

Published on: November 21, 2013

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Prader-Willi Syndrome (PWS) is a complex genetic disorder with variable clinical manifestations throughout life.
  • PWS results from the loss of gene expression on chromosome 15 (15q11.2-q13).
  • Hypothalamic dysfunction is implicated, leading to hormonal imbalances and hyperphagia.

Purpose of the Study:

  • To highlight the importance of early diagnosis in Prader-Willi Syndrome.
  • To emphasize the need for a multidisciplinary approach in managing PWS.
  • To underscore the impact of PWS on quality of life and life expectancy.

Main Methods:

  • This study is a review of the clinical features and management of Prader-Willi Syndrome.
  • It synthesizes information on the genetic basis and hypothalamic dysfunction in PWS.
  • It discusses the progression of symptoms from infancy to adulthood.

Main Results:

  • PWS is characterized by hyperphagia leading to obesity and associated complications.
  • Behavioral issues are prominent, particularly in adolescence and adulthood, impacting quality of life.
  • Hormonal dysfunctions are a key feature due to hypothalamic involvement.

Conclusions:

  • Early diagnosis of PWS is critical for effective long-term management.
  • A proactive, multidisciplinary approach is essential for improving quality of life and life expectancy in PWS patients.
  • Understanding the genetic and hypothalamic basis of PWS aids in comprehensive care.