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Related Concept Videos

Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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,...
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
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,...

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Related Experiment Video

Updated: Jun 13, 2026

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

Swyer James syndrome: a case report.

Maryam Hassanzad1, Nazanin Parsanejad, Soheila Khalilzadeh

  • 1Pediatric Respiratory Diseases Research Center, NRITLD, Masih Daneshvari Hospital, Shahid Beheshti, MC, Tehran, Iran.

Pneumologia (Bucharest, Romania)
|May 4, 2010
PubMed
Summary

Swyer James syndrome, a rare respiratory condition, can cause persistent wheezing and cough in children. Early diagnosis and supportive care can significantly improve symptoms in affected individuals.

Area of Science:

  • Pediatric Pulmonology
  • Rare Diseases
  • Radiology

Background:

  • Swyer James syndrome is a rare clinical condition.
  • It is characterized by early-life bronchiolitis and pneumonitis.

Observation:

  • A 2-year-old girl presented with chronic respiratory symptoms including wheezing, cough, and fever since birth.
  • Clinical presentation, radiography, and CT scan findings were evaluated.

Findings:

  • Diagnosis of Swyer James syndrome was confirmed based on clinical and imaging data.
  • The patient received supportive treatment.

Implications:

  • Supportive treatment led to improvement in the patient's respiratory symptoms.
  • This case highlights the importance of recognizing Swyer James syndrome in pediatric patients with persistent respiratory issues.

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