Treatment of urticaria and angioedema Antihistamines H1 second generation Dose 6 m- <2 year 2.5 ml BD (15mg BD) >2-11 year 5ml BD(30 mg BD) >12 year 60 mg BD Adult 180 mg once daily Tab allegra 30 ,60,180 Levocetrizine Dose 6 months -5 years:1.25 mg once daily 6- 11 year […]
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CHRONIC GRANULOMATOUS DISEASE Mnemonics: CHRONIC Granulomatous Disease C -Catalase positive organism( staphylococcus aureus , Serrantia marcescens) recurrent infection . H- HSCT is only known cure R- Resemble like Chrons disease O- Osteomyelitis, pneumonia , LN and skin Infections are most common illnesses encountered N-NBT test now rarely used. NADPH oxidase component defects I -Itraconazole prophylaxis
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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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Fragile X syndrome (FXS) Overview Fragile X syndrome (FXS) is a well-known genetic disorder characterized by the expansion of the trinucleotide repeat CGG in the fragile X mental retardation 1 (FMR1) gene. This condition is often associated with specific physical and cognitive characteristics, affecting both males and females. In this article, we will explore the
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Lesch-Nyhan Disease Lesch-Nyhan Disease, generally known as Lesch- Nyhan Syndrome or simply Lesch- Nyhan, is a rare and severe inheritable disorder that affects the central nervous system. Named after the American pediatrician Michael Lesch and his British coworker William Nyhan, the disease is characterized by a deficiency of the enzyme hypoxanthine- guanine phosphoribosyltransferase( HGPRT). This
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Bruton Agammaglobulinemia Bruton Agammaglobulinemia is a rare primary immunodeficiency disorder characterized by the absence or very low concentration of immunoglobulins (IgG, IgA, IgM, IgE). This condition primarily affects males and is caused by mutations in the Bruton Tyrosine Kinase (BTK) gene, leading to impaired B cell maturation and function. In this article, we will delve
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Common Variable Immunodeficiency (CVID) Common Variable Immunodeficiency (CVID) is a primary immunodeficiency disorder characterized by impaired B-cell function, resulting in reduced antibody production and increased susceptibility to infections. It is a complex condition with a wide range of clinical presentations and requires a comprehensive understanding for early diagnosis and effective management. In this article, we
Chediak-Higashi Syndrome (CHS) Chediak-Higashi Syndrome (CHS) is a rare and complex autosomal recessive genetic disorder that affects various aspects of an individual’s health. It is characterized by a multitude of symptoms, making it important to understand the alphabet of CHS to recognize its clinical manifestations and ensure timely diagnosis and management. Let’s explore each letter
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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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DiGeorge Syndrome DiGeorge Syndrome, also known as 22q11.2 deletion syndrome, is a congenital disorder caused by the deletion of a small piece of chromosome 22. This genetic abnormality leads to various structural and functional defects, mainly affecting the development and function of T cells, which are crucial components of the immune system. In this article,
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