Endocrine emergencies

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Schnitzler Syndrome: A Rare Autoinflammatory Disorder

By SWA
Schnitzler syndrome is a rare, chronic autoinflammatory disease characterized by chronic urticaria (hives), recurrent fever, joint pain, and monoclonal gammopathy (abnormal proteins in the blood). First described by Dr. Liliane Schnitzler in 1972 , this condition is often misdiagnosed, leading to years of untreated symptoms before a correct diagnosis is made. The case report, " A 58-Year-Old Woman With Urticaria, Fever, and Joint Pain " , describes a case that closely aligns with my own experience with this challenging disorder. Key Features of Schnitzler Syndrome Schnitzler syndrome presents with a characteristic set of symptoms, though not all patients experience them in the same way: Chronic Urticaria (Hives) – Persistent, non-itchy or mildly itchy red patches that do not respond to antihistamines. Monoclonal Gammopathy (IgM or IgG type) – Abnormal monoclonal immunoglobulin detected in the blood (most commonly IgM ). Recurrent Fever – Unexplained fever episodes, often...
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Dysferlin Protein: Key Roles, Genetic Locations

By SWA
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The purpose of this article is to share and discuss the details of a new discovery, which is highlighted within: CRISPR-Cas9: A Breakthrough Tool to Repair the DYSF Gene The dysferlin protein plays an essential role in maintaining the integrity of muscle cell membranes, particularly in tissues that endure significant mechanical stress, such as skeletal and cardiac muscles . Encoded by the DYSF gene , dysferlin is indispensable for repairing damaged cell membranes after injury caused by muscle contraction or external forces. This article explores the main locations where dysferlin is produced, its role in muscle repair, and supportive nutritional and therapeutic strategies for individuals with dysferlin deficiency, such as those affected by dysferlinopathies (e.g., Limb-Girdle Muscular Dystrophy Type 2B or Miyoshi Myopathy). Currently, there is no definitive answer as to why the severity of dysferlin protein expression or depletion varies. Do pathogens play a role in the methylation o...
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Polio and Post-Polio Syndrome (PPS): Summary and Key Insights

By SWA
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  In the human body, poliovirus can survive and replicate for varying durations depending on the phase of infection and the individual's immune response: Incubation Period : After entering the body, poliovirus can begin replicating in the throat and intestines within a few hours. The typical incubation period lasts 7 to 10 days (but can range from 3 to 35 days ), during which the virus is actively multiplying. Shedding in Feces : Even after symptoms have resolved or in asymptomatic cases, poliovirus can be excreted in the feces for an extended period. In most individuals, the virus is shed in feces for 4 to 8 weeks after infection. In rare cases, especially in individuals with compromised immune systems, the virus may persist in the gut and be shed for months or even years (a condition called chronic excretion ). Bloodstream : If the virus enters the bloodstream and causes viremia, it may persist there for a few days before being cleared by the immune system or progressing to ...
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