5 documents found, page 1 of 1
Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patien...
Bouça, Bruno; Cascão, Mariana; Fiúza, Pedro; Amaral, Sara; Bogalho, Paula; Silva-Nunes, JoséSummary: 17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism. She had an unch...
Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): ...
Amaral, Sara; Palha, Ana; Bogalho, Paula; Silva-Nunes, JoséBackground: Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant condition and represents 1-5% of all cases of diabetes mellitus. MODY is often misdiagnosed as type 1 or type 2 diabetes. The rare subtype 5 (HNF1B-MODY) is due to hepatocyte nuclear factor 1β (HNF1B) molecular alteration and is remarkable for its multisystemic phenotypes characterized by a broad spectrum of pancreatic and extra-pa...
The role of the metabolome and non-coding RNA on pheochromocytomas and paragang...
Bouça, Bruno; Bogalho, Paula; Rizzo, Manfredi; Silva-Nunes, JoséPheochromocytoma and paragangliomas (PPGL) are rare neuroendocrine tumors. In some patients they exhibit malignant behavior characterized by the presence of metastases, limiting treatment options and survival rates. Therapeutic options are limited to surgery, localized radiotherapy, and a few systemic therapies. However, in several recent studies, non-coding RNA molecules are gaining increasing attention as mar...
Central diabetes insipidus following immunization with BNT162b2 mRNA COVID-19 v...
Bouça, Bruno; Roldão, Marisa; Bogalho, Paula; Cerqueira, Luís; Silva-Nunes, JoséIntroduction: Cases of central diabetes insipidus (CDI) have been reported after COVID-19 infection, with hypophysitis being the most likely cause. COVID-19 vaccines' potential adverse effects may mimetize some of these complications. Case report: Woman 37 years old, with rheumatoid arthritis under adalimumab (40 mg twice a month) since December 2018. She was in her usual state of health when she received the s...
Diagnóstico genético da diabetes tipo MODY na população portuguesa
Gaspar, Gisela; Seuanes, Filomena; Duarte, João S.; Rodrigues, Dircea; Moreno, Carolina; Gouveia, Sofia; Lobarinhas, Goreti; Bogalho, Paula