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New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

Anti-CD19 therapy may help treat SLE and NMOSD.

The Enterobacter isolate AMS1-S8 is effective for removing selenium from wastewater.

S100A4 and NMIIA promote tumor growth in glioblastoma by enhancing blood vessel functions.

Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

Monoclonal antibodies LT-1, LT-2, and LT-7 help diagnose certain blood cancers.

An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.

SHBG binding properties are unchanged in male liver cirrhosis patients.

Toluidine blue helps accurately diagnose and treat certain skin tumors in surgery.

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

Selenium deficiency caused symptoms in a child, which improved with selenium supplements.

A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.

Prostate cancer cells can make their own androgens to activate the androgen receptor, and treatments like abiraterone may increase this ability, suggesting new therapies should target the entire steroid-making pathway.

Existing drug dexamethasone may lower death risk in severe COVID-19 cases; more research needed for other drugs.

S100A4 promotes aggressive ovarian cancer and is a potential treatment target.

The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.

Rituximab effectively managed a difficult case of juvenile lupus with complications, reducing the need for steroids.

TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.

Trimethoprim-sulfamethoxazole can cause aseptic meningitis.

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.

If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.

Selenium therapy improved health in cystic fibrosis patients with fewer side effects at a lower dose.

Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.

Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.

Mycophenolate mofetil is safer and more effective than cyclophosphamide for treating lupus nephritis.

Immunoadsorption successfully treated a man's resistant polymyositis.

Sirolimus effectively reduces lesions and improves quality of life in Blue Rubber Bleb Nevus Syndrome with manageable side effects.