Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.

CONCLUSION: In any young patient with AI not due to congenital adrenal hyperplasia, Allgrove syndrome should be ruled out. Though mineralocorticoid sparing pattern is classical, it can rarely be involved, as seen in the index case. Various components of the syndrome, as well as amyotrophy and other neurologic features, may present in a metachronous fashion. Hence, a high index of clinical suspicion can aid in early diagnosis and management. PMID: 32700293 [PubMed - as supplied by publisher]
Source: Hormones - Category: Endocrinology Tags: Hormones (Athens) Source Type: research

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Authors: Heshmatzad K, Mahdieh N, Rabbani A, Didban A, Rabbani B Abstract Familial glucocorticoid deficiency is a rare autosomal recessive genetic disorder which belongs to a group of primary adrenal insufficiency (PAI) and is mainly caused by mutations in the MC2R and MRAP genes. A comprehensive search was conducted to find the reported variants of MC2R and MRAP genes. In silico pathogenic analysis was performed for the reported variants. PCR amplification and sequencing were performed for three patients. Structural analysis, modeling, and interactome analysis were applied to characterize novel MC2R variants and t...
Source: International Journal of Endocrinology - Category: Endocrinology Tags: Int J Endocrinol Source Type: research
This case of a COVID-19 patient with vasopressor-resistant hypotension highlights the need to be aware of acute adrenal insufficiency as a non-respiratory presentation of SARS-CoV-2 infection.Journal of Medical Case Reports
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Family Medicine/Primary Care Journal Article Source Type: news
Publication date: Available online 29 August 2020Source: Reproductive BioMedicine OnlineAuthor(s): Ahmad Badeghiesh, Sara Ismail, Haitham Baghlaf, Eva Suarthana, Michael H. Dahan
Source: Reproductive BioMedicine Online - Category: Reproduction Medicine Source Type: research
Congenital adrenal hyperplasia (CAH) with 17 α-hydroxylase deficiency is a rare disease; patients often require lifetime cortisol treatment. In this case report, we presented a patient with CAH and 17α-hydroxyl...
Source: BMC Endocrine Disorders - Category: Endocrinology Authors: Tags: Case report Source Type: research
ConclusionOur data indicate that the current cut-off to define normal HPA axis response in children after insulin-induced hypoglycemia warrants reevaluation to avoid over-diagnosis of adrenal insufficiency. Our results suggest that peak serum cortisol levels  ≥ 15.4 µg/dL (428 nmol/L) in children undergoing ITT might represent a normal cortisol response to stress, regardless of age, BMI or GH secretory capacity.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research
CONCLUSIONS: It is unlikely that magnesium supplementation provides clinically meaningful cramp prophylaxis to older adults experiencing skeletal muscle cramps. In contrast, for those experiencing pregnancy-associated rest cramps the literature is conflicting and further research in this population is needed. We found no RCTs evaluating magnesium for exercise-associated muscle cramps or disease-state-associated muscle cramps (for example amyotrophic lateral sclerosis/motor neuron disease) other than a single small (inconclusive) study in people with liver cirrhosis, only some of whom suffered cramps. PMID: 32956536 [P...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
We appreciate the criticism raised by Dr. Matsuura questioning the genetic evaluation for NOP56 gene of Asidan (spinocerebellar ataxia 36) showing clinical anticipation. Asidan is an autosomal dominant neurodegenerative disorder caused by a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene, showing cerebellar ataxia, motor neuron disease phenotype, hearing loss and frontal cognitive impairment [1 –3]. The NOP56 genetic mutation in Asidan is similar to the hexanucleotide GGGGCC repeat expansion in intron 1 of the C9orf72 gene observed in familial amyotrophic lateral sclerosis/frontotemporal dementia...
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
Chimeric antigen receptor CD-19 T cell (CAR-T) therapy is approved in the United States (US) for the treatment of acute lymphocytic leukemia (ALL)1 and aggressive B-cell lymphomas2-4. Although clinically effective, these agents are associated with substantial morbidity and mortality due to adverse events5-7. The most common side effect is cytokine release syndrome (CRS)8, which is a phenomenon noted within the first two weeks of therapy of CAR-T infusion resulting in a systemic inflammatory response syndrome with fevers, hypotension, and/or hypoxia9.
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
Publication date: September 2020Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, Volume 130, Issue 3Author(s): VICTOR GUEDES DE LIMA
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
CONCLUSION: The results raise the possibility of an association between recurrent facial nerve palsy and migraines. Prospective studies in patients with even fewer episodes of facial nerve palsy could shed more light on this association. PMID: 32940194 [PubMed - as supplied by publisher]
Source: Journal of Laryngology and Otology - Category: ENT & OMF Tags: J Laryngol Otol Source Type: research
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