Medicine
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The peripheral immune system has a key pathophysiologic role in Frontotemporal degeneration (FTD). We sought a comprehensive transcriptome-wide evaluation of gene expression alterations unique to the peripheral immune system in FTD compared to healthy controls and amyotrophic lateral sclerosis. Nineteen subjects with FTD with 19 matched healthy controls and 9 subjects with amyotrophic lateral sclerosis underwent isolation of peripheral blood mononuclear cells (PBMCs) which then underwent bulk ribonucleic acid sequencing. ⋯ Significantly downregulated in PBMCs of FTD subjects were genes involved in antigen processing and presentation as well as lysosomal lumen formation compared to healthy control PBMCs. Our findings that the immune signature based on gene expression in PBMCs of FTD participants favors adaptive immune cells compared to innate immune cells. And decreased expression in genes associated with phagosomes and lysosomes in PBMCs of FTD participants compared to healthy controls.
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Primary diffuse leptomeningeal melanomatosis (PDLM) is a rare disease that affects melanocytes in the leptomeninges. There is very limited data on the efficacy of immunotherapy in this setting. ⋯ This is one of the few case reports of an adult patient with this rare malignancy being treated with a programmed death-1 inhibitor with partial response. Immunotherapy in metastatic PDLM may be a reasonable therapeutic option.
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Pneumatosis cystoides intestinalis (PCI) is a rare condition characterized by multiple gas-filled cysts in the intestinal wall, and can be caused by many conditions. ⋯ PCI is a rare condition that may be secondary to many other diseases. Because of its atypical clinical manifestations, it can be misdiagnosed as other diseases, such as polyps, inflammatory bowel disease, and even cancer. The diagnosis of PCI depends on computed tomography, colonoscopy, and endoscopic ultrasonography. Fine-needle aspiration may be helpful in the diagnosis and treatment of PCI.
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Renal cell carcinoma (RCC) is the most common type of kidney cancer and is the second most common urologic neoplasm. Vaginal metastasis from RCC is extremely rare clinically. ⋯ In cases of vaginal bleeding, the possibility of metastatic renal cell carcinoma should be considered. Percutaneous transcatheter arterial embolization is an effective and novel treatment for uncontrollable vaginal bleeding caused by vaginal metastasis of RCC.
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Case Reports
Congenital nephrogenic diabetes insipidus presenting as osmotic demyelination syndrome in infancy: A case report.
Almost 90% of congenital nephrogenic diabetes insipidus (NDI) cases are caused by mutations in the arginine vasopressin receptor 2 gene, which has X-linked recessive inheritance. Although NDI is commonly diagnosed in early infancy based on its characteristic findings, clinical diagnosis can be delayed when no other family members have been diagnosed with NDI because several findings of NDI are nonspecific. ⋯ ODS is an encephalopathy resulting from extreme fluctuations in serum sodium concentration and plasma osmolality. ODS due to hypernatremia has been reported in several patients, although it usually occurs during rapid correction of hyponatremia. Consequences of the central nervous system are a critical complication of NDI that affects prognosis. These consequences can be avoided with treatment. Early blood examination or polyuria in the patient, mother, or another family member and hypernatremic dehydration with good urine output should lead to an early diagnosis and prevent central nervous system consequences.