Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.

Context: Thyroglobulin (Tg), encoded by TG, is essential for thyroid hormone synthesis. TG defects result in congenital hypothyroidism (CH). Most reported patients were born before the introduction of newborn screening (NBS).

Pathogenic variants of the gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families.

Pseudohypoparathyroidism 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by loss-of-function variants of , which encodes Gsα. We present two unrelated Japanese families with PHP1A and PPHP harboring unreported pathogenic variants of (c.1141delG, p.

Malignant Hypertension Complicated with Necrotizing Pancreatitis After Starting Treatment: A Case Report.

BACKGROUND Malignant hypertension (MHT), one of the severest forms of hypertension, can have deleterious effects on various organs, such as renal failure, retinopathy, and encephalopathy. These types of organ damage are common complications of MHT, but in several previous cases, damage to other organs, such as the gastrointestinal tract or pancreas, resulting from small vessel lesions, has also been reported, and these cases have had severe clinical outcomes and a poor prognosis. CASE REPORT A 32-year-old male patient with untreated hypertension of a 5-year duration presented with breathlessness and edema.

Archival bone marrow smears are useful in targeted next-generation sequencing for diagnosing myeloid neoplasms.

Gene abnormalities, including mutations and fusions, are important determinants in the molecular diagnosis of myeloid neoplasms. The use of bone marrow (BM) smears as a source of DNA and RNA for next-generation sequencing (NGS) enables molecular diagnosis to be done with small amounts of bone marrow and is especially useful for patients without stocked cells, DNA or RNA. The present study aimed to analyze the quality of DNA and RNA derived from smear samples and the utility of NGS for diagnosing myeloid neoplasms.