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Molecular Identification of Transthyretin Amyloid in Fixed Skin Biopsies: A Simplified Sample Preparation Method

PubMed - neurological misdiagnosis Published 17 Oct 2026 Relevancy: 70%

Hereditary transthyretin (TTR) amyloidosis (ATTRv) is associated with peripheral neuropathy resulting from the accumulation of fibrillar TTR amyloid deposits in tissues including peripheral nerves and skin. Accurate diagnosis requires molecular identification of amyloid deposits in tissue specimens. Skin punch biopsy is a minimally invasive, well-established diagnostic tool used to confirm small-fiber neuropathy. Congo-red (CR) staining confirms amyloid deposition but does not determine amyloid...

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VPS13A Disease (Chorea-Acanthocytosis) in Puerto Rico; New Genetic and Clinical Observations

PubMed - functional seizures Published 17 Oct 2026 Relevancy: 72%

CONCLUSION: The presence of these probable founder mutations could explain the apparently increased prevalence in Puerto Rico; half of the described variants are newly described mutations and half have been previously reported. Enhanced clinical awareness of the spectrum of presenting symptoms and diagnostic clues, and improved access to genetic testing are essential for timely diagnosis in this population.

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Oct 16 2026 This Week in Cardiology

Medscape Neurology Published 16 Oct 2026 Relevancy: 1%

Some promising studies in amyloidosis, aficamten in nonobstructive HCM, costs of the microaxial flow pump in cardiogenic shock, and more on the VESALIUS trial of evolocumab are the topics John Mandrola, MD, discusses in this week’s podcast. theheart.org on Medscape

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Acute intermittent porphyria: abdominal pain, weight loss and acute neuropathy

Practical Neurology - Online First Published 16 Oct 2026 Relevancy: 95%

Case A woman in her 20s was admitted in early 2025 with severe generalised abdominal pain for 3 weeks, intractable vomiting, profound constipation and rapid weight loss from 60 kg to 45 kg. She had been previously well. The illness was initially attributed to presumed food poisoning, as several family members had experienced a self-limiting gastrointestinal illness. Her symptoms persisted, and during the admission, she developed gradually progressive, symmetrical weakness affecting all four limbs. Initial blood tests showed mildly deranged liver function and a pre-renal acute kidney injury. CT and ultrasound scans of the abdomen and pelvis showed faecal loading and a small polypoid gallbladder lesion, but no other abnormality. Following intravenous fluids, electrolyte replacement and bowel regimens, her abdominal symptoms improved. She was diagnosed with gastroenteritis and discharged after 1 month. Her limb weakness improved partially with physiotherapy and was attributed to deconditioning and malnutrition. One month later, she was readmitted with recurrent...

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