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

Other Disorders of Digestive System

Other Disorders of Digestive System

The gastrointestinal tract is susceptible to various disorders. If the lower esophageal sphincter is damaged, stomach acid can flow back into the esophagus, causing irritation and inflammation of the lining. This condition is called gastroesophageal reflux disease (known as heartburn) and may cause chest pain and difficulty swallowing. In the stomach, prolonged use of nonsteroidal anti-inflammatory drugs like aspirin, chronic alcohol consumption, bacterial infections such as Helicobacter...

Myasthenia Gravis ll: Pathophysiology

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...

Disorders of the Autonomic Nervous System

Disorders of the Autonomic Nervous System

The autonomic nervous system (ANS) is an intricate network of nerves that controls functions such as the regulation of heart rate, digestion, and blood pressure regulation. When this system malfunctions, it can lead to various disorders that affect multiple bodily functions. One common feature of many autonomic disorders is the involvement of smooth blood vessels, which play a crucial role in regulating blood flow throughout the body.
Raynaud's disease, also known as Raynaud's phenomenon, is a...

Disorders of the Nervous Tissue

Disorders of the Nervous Tissue

Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...

Botulism

Botulism

Botulism is a life-threatening neuroparalytic condition caused by botulinum neurotoxin, which is produced by the bacterium Clostridium botulinum, a Gram-positive, spore-forming, obligate anaerobe.In adults, the toxin enters the body in different ways: in foodborne botulism, the preformed toxin is absorbed in the intestine. In wound botulism, spores grow in injured tissue and release the toxin into the blood. Infant botulism differs mechanistically from adult forms. In infants, botulism commonly...

Hypersensitivities

Hypersensitivities

Hypersensitivity, also known as a hypersensitivity reaction or allergic reaction, is a condition where the body's immune system reacts abnormally to a foreign substance. Such substances, that cause hypersensitivity are referred to as an allergen, could be something typically harmless to most people, like pollen or certain foods.
Types of Hypersensitivities
Hypersensitivity reactions are categorized into four types: Type 1, Type 2, Type 3, and Type 4. Each type has a distinct mechanism...

You might also read

Related Articles

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

Sort by

Same author

THE ROLE OF TUMOR-SEEKING RADIOPHARMACEUTICALS IN THE DIAGNOSIS AND MANAGEMENT OF ADRENAL TUMORS.

Acta endocrinologica (Bucharest, Romania : 2005)·2020

Same author

ADIPONECTIN AS A POTENTIAL BIOMARKER OF LOW BONE MINERAL DENSITY IN POSTMENOPAUSAL WOMEN WITH METABOLIC SYNDROME.

Acta endocrinologica (Bucharest, Romania : 2005)·2019

Same author

Preparation of Recombinant Centromeric Nucleosomes and Formation of Complexes with Nonhistone Centromere Proteins.

Methods in enzymology·2016

Same author

Genetic and morphological variability of the European mudminnow Umbra krameri (Teleostei, Umbridae) in Serbia and in Bosnia and Herzegovina, a basis for future conservation activities.

Journal of fish biology·2015

Same author

New distribution data and population structure of the European mudminnow Umbra krameri in Serbia and Bosnia and Herzegovina.

Journal of fish biology·2013

Same author

[Trans-synaptic retrograde atrophy of the optic nerves: a differential diagnostic problem of expansive intracranial processes].

Srpski arhiv za celokupno lekarstvo·2011

Search research articles

Related Experiment Video

Updated: Jul 2, 2026

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis (ALS)

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis (ALS)

Published on: February 21, 2011

[Joubert's syndrome].

D Vranjesević, A Djukić, N Sekulić

Srpski Arhiv Za Celokupno Lekarstvo

|September 1, 1989

Summary

This summary is machine-generated.

Joubert syndrome, a rare genetic disorder, presents with distinct respiratory, eye, and motor impairments. Early diagnosis is crucial for managing this severe condition and providing genetic counseling.

More Related Videos

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Related Experiment Videos

Last Updated: Jul 2, 2026

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis (ALS)

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis (ALS)

Published on: February 21, 2011

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Area of Science:

Neurology
Genetics
Pediatrics

Background:

Joubert syndrome is a rare ciliopathy first described in 1969.
Characterized by a distinctive brainstem malformation and cerebellar dysplasia.

Observation:

Key clinical features include abnormal respiratory patterns (alternating hyperpnea and apnea), abnormal eye movements, severe intellectual disability, and ataxia.
Neuropathological findings often involve dysplasia of the vermis cerebelli.
Characteristic CT findings include a large cisterna magna communicating with the fourth ventricle.

Findings:

The syndrome has a poor prognosis, with approximately 50% of patients dying within the first three years of life.
This report details the first documented case of Joubert syndrome in Yugoslavia.

Implications:

Early recognition of Joubert syndrome is vital for accurate prognosis and genetic counseling.
This case expands the geographic reporting of Joubert syndrome.
Further research into the genetic basis and therapeutic strategies for Joubert syndrome is warranted.