Approach to stunting by growth velocity:2024
GROWTH VELOCITY CHROMOSOMAL – Downs, Russel silver , Turner syndrome Chronic disease -Coeliac,TB , CRF, CHD
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Unlocking the Secrets of HARTNUP 2024
HARTNUP DISEASE OVERVIEW HARTNUP disease, a rare genetic disorder, has long puzzled medical experts with its complex array of symptoms and challenges in diagnosis. However, recent advancements in understanding this condition have shed light on its underlying mechanisms, offering hope for effective treatment strategies. In this article, we will delve into the enigmatic world of
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Fanconi Anemia: best Mnemonics 2024
FANCONI ANEMIA OVERVIEW Fanconi Anemia (FA) is a rare genetic disorder characterized by bone marrow failure, congenital anomalies, and an increased risk of certain cancers. To help remember the key features of Fanconi Anemia, the mnemonic “CBC FANCONI” can be used: C – Congenital Anomalies: Fanconi Anemia is associated with various congenital anomalies, which can
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Hyper IgE Syndrome (job syndrome)- Unraveling the Mnemonic 2024
Hyper IgE Syndrome (job syndrome): quick overview Hyper IgE Syndrome, also known as Job Syndrome, is a rare primary immunodeficiency disorder characterized by increased levels of immunoglobulin E (IgE) and various clinical manifestation. The syndrome is primarily caused by mutations in the STAT3 gene, leading to a compromised immune system. In this article, we will
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Wiskott Aldrich Syndrome (WAS): Unforgettable Mnemonics 2023
Wiskott Aldrich Syndrome( WAS) Wiskott Aldrich Syndrome( WAS) is a rare X-linked primary immunodeficiency .WAS is caused by mutations in the WASP gene, which plays a pivotal part in the conformation of the cytoskeleton in vulnerable cells. Mnemonic “ WIX ALDRICH ” W – WASP Gene The WASP gene, located on the X chromosome, encodes
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METABOLIC DISORDERS MADE SIMPLE AND EASY 2023
DIFFERENT METABOLIC DISORDER WITH MNEMONICS Von-Gierke’s disease (type-1 glycogenosis characterized by recurrent hypoglycemia attacks with hepatomegaly, and the hypoglycemia does not respond to epinephrine or glucagon. Pompe’s disease (type-II glycogenosis) characterized by coarse facies, hepatosplenomegaly, and a tall QRS complex, but it is not a liver glycogenosis. Mnemonics: ABCDEF A- Autosomal recessive B- Biopsy
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Interesting Facts about Turner syndrome 2023
Turner Syndrome: Causes, Symptoms, Diagnosis, and Treatment Itis a genetic disorder that affects females. It occurs when one of the two X chromosomes is partially or completely missing. Instead of having the usual 46 chromosomes, women with Turner Syndrome have only 45 chromosomes, with only one X chromosome instead of two. The syndrome is named
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myth and facts of Lactose intolerance 2023
What is Lactose Intolerance and How Does it Develop? Definition: The inability to digest and absorb lactose (the sugar in milk) causes gastrointestinal symptoms when milk or products containing milk are consumed. Types: It may be primary or secondary: Primary– It is characterized by congenital absence of lactase enzyme due to a mutation in the gene
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Pompe’s Disease (Type II Glycogenosis): A Rare Inherited Disorder 2023
Pompe’s Disease (Type II Glycogenosis) Introduction Pompe’s Disease (Type II Glycogenosis): A Rare Inherited Disorder with a Multisystem Impact, also known as glycogen storage disease type II (GSD II) or acid maltase deficiency, is a rare autosomal recessive disorder caused by defects in the acid alpha-glucosidase (GAA) enzyme. This deficiency results in the accumulation of
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Effective Strategies for Cough Management During Common Cold
TREATMENT OF COUGH According to recommendations made by the American Academy of Paediatrics and the United Kingdom’s National Institute for Health and Clinical Excellence, the management of the common cold generally entails supportive care Antiviral treatment There is no specific antiviral treatment for rhinovirus infections, the most common cause of the common cold. Ribavirin, approved
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