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Related Concept Videos

Language and Cognition01:27

Language and Cognition

Language serves as a bridge between ideas and communication, influencing how individuals perceive and interact with the world. Psychologists have long debated whether language shapes thought or vice versa. This discussion gained grip with Edward Sapir and Benjamin Lee Whorf in the 1940s, who proposed that language determines thought, a concept known as linguistic determinism. They suggested that the vocabulary and structure of a language influence how its speakers think and perceive reality.
Introduction to Language of Pathophysiology ll01:17

Introduction to Language of Pathophysiology ll

This lesson explores key terms that describe how diseases progress, their outcomes, and their distribution in populations.Diagnostic tests identify diseases and monitor treatment. These include blood and urine tests, biopsies, imaging (X-ray, MRI), and detection of infectious agents.Remission is a reduction or disappearance of symptoms.Exacerbation refers to the worsening of symptoms, such as increased wheezing during an asthma attack.A precipitating factor triggers an acute episode, while a...
Disorders of Leukocytes01:27

Disorders of Leukocytes

Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune system...
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,...
Introduction to Language of Pathophysiology l01:25

Introduction to Language of Pathophysiology l

Pathophysiology investigates how biological mechanisms—typically starting at the cellular level—disrupt normal bodily functions. It bridges anatomy and physiology to explain the progression of disease. With this foundation, it is important to understand the following key terms used to describe disease processes: Diagnosis:The process of identifying a disease using clinical evaluation, including signs (objective evidence like rashes), symptoms (subjective experiences like pain), laboratory test...

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Related Experiment Video

Updated: Jun 24, 2026

From a 2DE-Gel Spot to Protein Function: Lesson Learned From HS1 in Chronic Lymphocytic Leukemia
10:18

From a 2DE-Gel Spot to Protein Function: Lesson Learned From HS1 in Chronic Lymphocytic Leukemia

Published on: October 19, 2014

Cornelia de Lange syndrome: a case study.

Goud Iravathy Kalal1, Vimarsh P Raina, Veerabhadra S Nayak

  • 1Molecular Biology & Immunology Lab, Indraprastha Apollo Hospitals, Saritha Vihar, New Delhi, India.

Genetic Testing and Molecular Biomarkers
|March 25, 2009
PubMed
Summary
This summary is machine-generated.

Cornelia de Lange syndrome (CDLS) diagnosis is now possible through genetic testing. Identifying the NIPBL gene mutation aids families in making informed decisions about future pregnancies.

Related Experiment Videos

Last Updated: Jun 24, 2026

From a 2DE-Gel Spot to Protein Function: Lesson Learned From HS1 in Chronic Lymphocytic Leukemia
10:18

From a 2DE-Gel Spot to Protein Function: Lesson Learned From HS1 in Chronic Lymphocytic Leukemia

Published on: October 19, 2014

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Diagnostics

Background:

  • Cornelia de Lange syndrome (CDLS) is a rare genetic disorder characterized by congenital anomalies and developmental delays.
  • Its genetic and molecular basis was previously unknown, hindering diagnosis and genetic counseling.
  • Distinct phenotypes, classic and mild, suggested underlying pathogenetic complexity.

Observation:

  • This study details a patient diagnosed with CDLS using advanced molecular techniques.
  • Conventional cytogenetics, fluorescence in situ hybridization (FISH), and NIPBL gene mutation analysis were employed.
  • The diagnostic process identified a specific genetic cause for the patient's condition.

Findings:

  • The NIPBL gene was identified as a key factor in CDLS etiology.
  • Mutation analysis confirmed the diagnosis and provided a precise genetic understanding.
  • This enabled accurate etiologic diagnosis for the patient.

Implications:

  • Precise genetic diagnosis facilitates informed family planning and reproductive decision-making.
  • Understanding the genetic basis of CDLS alleviates parental anxiety regarding recurrence.
  • This diagnostic approach offers a pathway for accurate genetic counseling in CDLS cases.