Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1477419 | PMC |
| http://dx.doi.org/10.1097/00000658-196709000-00008 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Uncommon metastatic journey: unusual breast metastases of medullary thyroid carcinoma: a case report.
BMC Womens Health
January 2025
Department of Surgical Oncology, Salah Azaiez Institute, Faculty of Medicine of Tunis, University of Tunis El Manar, Boulevad 9 Avril Bab Saadoun 1006, Tunis, Tunisia.
Medullary thyroid carcinoma is a neuroendocrine tumor derived from thyroid C-cells. It is a rare aggressive tumor, known to metastasize to lymph nodes, liver, bones, and lungs. We report a case of a young patient with a family history of breast cancer, who developed breast metastases six months post-treatment for medullary thyroid carcinoma.
View Article and Find Full Text PDFA Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes: A Case Report.
Intern Med
January 2025
Department of Nephrology, The University of Osaka Graduate School of Medicine, Japan.
We encountered a family with hereditary renal failure, renal medullary cysts, pancreatic hypoplasia, hypomagnesemia, liver enzyme abnormalities, and diabetes mellitus (DM). We identified a novel heterozygous variant of HNF1B (NM_000458.4:c.
View Article and Find Full Text PDFRemission of Insulin-Dependent Diabetes Mellitus in Multiple Endocrine Neoplasia Type 2A After Adrenalectomy.
JCEM Case Rep
January 2025
Division of Diabetology and Metabolism, Department of Internal Medicine, Tokyo Women's Medical University School of Medicine, Shinjuku-ku, Tokyo 162-8666, Japan.
A 37-year-old man presented with symptoms of polyuria and weight loss over the past year. Initial laboratory examination showed elevated blood glucose level (468 mg/dL [25.9 mmol/L]; normal reference range [RR], 75-109 mg/dL [4.
View Article and Find Full Text PDFTwo Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.
Biomedicines
December 2024
Diagnostic and Interventional Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
The glycosylphosphatidylinositol (GPI) is a glycol-lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family is a group of genes involved in this pathway with six genes identified so far, and defects in these genes are associated with a rare inborn metabolic disorder manifesting with a spectrum of clinical phenotypes in newborns and children.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!