Endocrine emergencies

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Schnitzler Syndrome: A Rare Autoinflammatory Disorder

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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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Acute Flaccid Myelitis (AFM): Understanding the “Polio-like” Illness Affecting the Spinal Cord

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Acute flaccid myelitis (AFM) is a rare but serious neurological disorder that primarily affects children and results in sudden weakness or paralysis in the limbs. Often referred to as a “polio-like” illness, AFM has drawn growing attention over the past decade due to its similarities with poliomyelitis and its seasonal spikes in reported cases. While AFM remains uncommon, its potential severity—and the uncertainty surrounding its causes—make it an important condition for clinicians, parents, and public health officials to understand. What Is Acute Flaccid Myelitis? AFM is a condition that affects the gray matter of the spinal cord , where it damages motor neurons responsible for muscle movement. This leads to acute, flaccid paralysis , meaning muscles become limp and weak, often without warning. The condition can progress rapidly, and in some cases, the weakness can become long-lasting or even permanent. Although its symptoms resemble those of poliovirus infection, AFM is not cau...
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Very Long-Chain Fatty Acids (VLCFAs) X-ALD and Spinal Muscular Atrophy (SMA): Exploring the Connection

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Introduction: White Brain Matter, VLCFAs, and X-ALD X-linked Adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disorder and a major cause of progressive neurodegeneration in children—sometimes referred to as “childhood dementia.” Across related conditions, prevalence can range from approximately 1 in 2,000 to 1 in 500,000 newborns. Among its forms, childhood cerebral X-ALD is the most severe, marked by rapid inflammatory demyelination in the brain and often fatal outcomes if not treated early. At the core of X-ALD is a disruption in the metabolism of Very Long-Chain Fatty Acids (VLCFAs). Normally, these fatty acids are broken down in peroxisomes—specialized structures within cells that help maintain metabolic balance. In X-ALD, a mutation in the ABCD1 gene impairs this function, causing VLCFAs to accumulate, particularly in the white matter of the brain, spinal cord, and adrenal glands. This accumulation leads to demyelination, adrenal insufficiency (Addison’s disease), an...
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Dysferlin Protein: Key Roles, Genetic Locations

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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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Toxic Skin Condition Post-mRNA COVID-19 Vaccination

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Important update: My experiences have now been formally verified following several years of dismissal. Vasculitis syndromes: the pathogenic roles of COVID-19 and related vaccinations https://link.springer.com/article/10.1186/s12985-025-03032-x  ----------------------------------------- Identifying Severe Skin Conditions Post-Vaccination Following administration of the BioNTech mRNA vaccine, a small subset of individuals may develop severe and complex reactions. These reactions are often misdiagnosed or misunderstood due to their rarity and diverse presentation. This essay examines a case characterized by severe skin conditions, systemic symptoms, and complications such as hypercalcemia and crystal formation. It highlights the need for accurate diagnosis, holistic management, and increased awareness of these rare but significant vaccine-related adverse events. Initial Symptoms and Misdiagnoses Severe symptoms began shortly after the first dose of the BioNTech vaccine, initially pres...
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Is ME CFS connected to Spinal Muscular Atrophy (SMA) or Post Polio?

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Today, I understand why Spinal Muscular Atrophy (SMA) received little attention, particularly in the mid-50s. This complex and debilitating genetic illness was poorly understood, and patients' symptoms were often minimized or even dismissed. For more information, please visit the Spinal Muscular Atrophy (SMA) page on MalaCards . Even now, many neurologists lack detailed knowledge of SMA, and comprehensive examinations mentioned in research are rarely pursued. In 2008, while investigating permanent adrenal insufficiency, an MRI ordered by my endocrinologist unexpectedly revealed Chiari Malformation II. However, surgery in 2009 brought no improvement. In 2010, a DNA test showed a genetic marker in the ACTN3 gene: https://www.malacards.org/search/results?q=ACTN3%20gene%20and%20Spinal%20Muscular%20Atrophy%20(SMA) A 2015 MRI revealed ankylosing spondylitis, multiple Tarlov cysts, stenosis at L4 and L5, spinal canal narrowing, and widespread degenerative changes. Surgery on L4 and L5 ...
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Polio and Post-Polio Syndrome (PPS): Summary and Key Insights

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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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Cytokine Storm, Mast Cell Activation Syndrome (MCAS), Endothelial Dysfunction and microclots/thrombosis?

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Update: New Research Builds on Previous Findings Cytokine Storms in COVID-19, Hemophagocytic Lymphohistiocytosis, and CAR-T Therapy https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2832234?utm_source=silverchair&utm_medium=email&utm_campaign=article_alert-jamanetworkopen&utm_content=wklyforyou&utm_term=040925&adv= Conclusions: This recent cohort study builds upon earlier work by identifying COVID-related cytokine storm (COVID-CS) through common inflammation markers and comparing it with two other cytokine storm (CS) conditions: malignancy-associated hemophagocytic lymphohistiocytosis (MN-HLH) and CAR-T–associated cytokine release syndrome (CAR-T CRS) . Among the three groups, patients treated with CAR-T therapy showed the highest survival rates , in contrast to those with COVID-CS and MN-HLH. Interestingly, the study found that CAR-T CRS and COVID-CS share similar cytokine activation pathways , suggesting a comparable immune response mechanism. In c...
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Introduction to Adenosine and Tachycardia

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What is Adenosine? Adenosine is a chemical found in human cells, existing in three forms: adenosine, adenosine monophosphate (AMP), and adenosine triphosphate (ATP). Adenosine is a chemical found in the body that plays many roles, including influencing heart rate and promoting sleep and relaxation. It is also used as a medication to manage certain types of tachycardia, particularly supraventricular tachycardia. Adenosine works by slowing the heart rate through its action on the cardiac tissue. Adenosine production in the body occurs through multiple pathways: Phosphorylation of Adenine: Adenine can be directly phosphorylated to form AMP (adenosine monophosphate), which is then converted to ATP, ADP, and finally adenosine through dephosphorylation reactions. Breakdown of ATP: Adenosine is primarily formed in the body through the breakdown of ATP, which releases energy. ATP can be dephosphorylated stepwise through the action of various enzymes: ATP is first converted to ADP (adeno...
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Impact of Penicillium on Muscle and Lung Function: What Healthcare Professionals Should Know

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Introduction While symbiotic relationships between viruses and bacteria have been documented, the possibility of a symbiosis between COVID-19 (SARS-CoV-2) and common fungal genera such as Penicillium , Aspergillus , and Trichoderma remains unexplored. This gap in research presents a potential area of interest for understanding novel microbial interactions and their implications for human health. Symbiosis Between Viruses and Bacteria – A Fascinating Partnership in the Microbial World https://swaresearch.blogspot.com/2025/07/symbiosis-between-viruses-and-bacteria.html When viruses, bacteria, or fungi—such as Penicillium —enter a host, they can trigger a range of immune responses and physiological disruptions.  Penicillium molds do not directly produce autoantibodies. However, exposure to Penicillium mold and its mycotoxins can trigger an immune response that may lead to the production of IgG antibodies , including those that could be reactive against the body's own tissues ,...
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