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Related Concept Videos

Pulmonary Tuberculosis I01:29

Pulmonary Tuberculosis I

Tuberculosis, often called TB, is a contagious illness primarily caused by Mycobacterium tuberculosis. It mainly affects the lung parenchyma but can also impact other body parts.
Causative Organism
The primary infectious agent causing tuberculosis is Mycobacterium tuberculosis, a slow-growing, acid-fast, aerobic rod that exhibits sensitivity to heat and ultraviolet light. Instances of Mycobacterium bovis and Mycobacterium avium contributing to the development of TB infection are rare.
Mode of...
Pulmonary Tuberculosis V01:28

Pulmonary Tuberculosis V

Medical management of tuberculosis (TB) patients involves a comprehensive approach that includes diagnosis, treatment, and monitoring. The specific strategies can vary depending on the type of tuberculosis (latent or active), the patient's overall health status, and other considerations.
Latent tuberculosis infection occurs when TB bacteria are present in a person's body, but are not causing illness or symptoms. It is not contagious, and preventive treatment is crucial to avoid the progression...
Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy01:30

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Various diagnostic tests are employed in the diagnostic process for Inflammatory Bowel Disease (IBD), particularly to differentiate between Crohn's disease and ulcerative colitis.
Diagnostic studies
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Vitamins01:30

Vitamins

Vitamins, derived from the Latin word for life, are essential organic substances required in small quantities for optimal growth and overall well-being. Unlike other organic nutrients, vitamins don't act as sources of energy or building materials but rather facilitate these nutrients' utilization by the body. Vitamins are predominantly coenzymes, assisting enzymes in specific chemical actions, like the oxidation of glucose for energy involving B vitamins. Most vitamins are not produced in our...
Pharmaceutical Poisoning: Treatment Strategies01:26

Pharmaceutical Poisoning: Treatment Strategies

Treatment strategies for poisoning are a critical aspect of emergency medicine, focusing on preventing the absorption of toxins and enhancing their elimination. When a poisoning incident occurs, the first response is to halt exposure and decontaminate the patient, particularly through gastrointestinal (GI) methods if the poison was ingested.Gastrointestinal Decontamination Techniques:Activated charcoal is the cornerstone of GI decontamination. It works through adsorption, binding the toxin to...
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The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:

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Related Experiment Video

Updated: Jun 14, 2026

Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload
05:23

Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload

Published on: March 14, 2017

Should transcobalamin deficiency be treated aggressively?

Manuel Schiff1, Hélène Ogier de Baulny, Ghislaine Bard

  • 1Service de Neuropédiatrie & Maladies Métaboliques, Centre de référence Maladies Métaboliques, CHU Robert Debré, APHP, Paris, France. manuel.schiff@rdb.aphp.fr

Journal of Inherited Metabolic Disease
|March 31, 2010
PubMed
Summary

Early detection and aggressive treatment are crucial for transcobalamin (TC) deficiency, a rare disorder impacting vitamin B12 transport. Prompt intervention improves patient outcomes and prevents severe neurological complications.

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Last Updated: Jun 14, 2026

Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload
05:23

Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload

Published on: March 14, 2017

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Transcobalamin (TC) is essential for cellular uptake of vitamin B12 (cobalamin, Cbl).
  • TC deficiency is a rare autosomal recessive disorder leading to intracellular Cbl depletion.
  • This depletion causes megaloblastic bone marrow failure and metabolic derangements.

Observation:

  • Five patients with TC deficiency were studied.
  • Early and adequate treatment led to favorable outcomes.
  • Inadequate treatment resulted in late-onset severe neuro-ophthalmological impairment.

Findings:

  • Six novel mutations in the TCN2 gene were identified.
  • These mutations disrupt critical Cbl-TC and TC-receptor binding domains.
  • Clinical presentation includes failure to thrive, pancytopenia, megaloblastic anemia, and potential neurological issues.

Implications:

  • TC deficiency is a severe condition requiring early diagnosis and aggressive, long-term management.
  • Timely intervention can prevent severe, irreversible neurological damage.
  • Understanding mutation impacts aids in predicting disease severity and guiding therapy.