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About 17,098 results

Isolated adrenocorticotropic hormone deficiency associated with sintilimab therapy in a...
https://doi.org/10.1186/s12902-022-01151-y
BMC Endocrine Disorders; Lin SH, Zhang A et. al.

Sep 25th, 2022 - Several immune checkpoint inhibitors have been implemented for cancer treatment which have shown some degree of antitumor effcacy, while immune-related adverse events (irAEs) that affect multiple organ functions ensue which obviously should not be neglected. Though less common than other kinds of irAEs, Immune checkpoint inhibitors (ICIs) related Isolated ACTH deficiency (IAD) may cause long-te...

Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9509642
Orphanet Journal of Rare Diseases; Olivotto S, Duse A et. al.

Sep 25th, 2022 - Glut1 deficiency syndrome (Glut1-DS) is a rare metabolic encephalopathy. Familial forms are poorly investigated, and no previous studies have explored aspects of Glut1-DS over the course of life: clinical pictures, intelligence, life achievements, and quality of life in adulthood. Clinical, biochemical and genetic data in a cohort of familial Glut1-DS cases were collected from medical records. ...

Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial compl...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410648
Medicine Men L, Feng J et. al.

Sep 1st, 2022 - Leigh syndrome (LS) is a rare, progressive, and fatal neurodegenerative disease that occurs mainly in infants and children. Neonatal LS has not yet been fully described. The study design was approved by the ethics review board of Shenzhen Children's Hospital. A 24-day-old full-term male infant presented with a 2-day history of lip cyanosis when crying in September 2021. He was born to nonconsan...

MRI Findings of Pituitary Gland in Growth Hormone-Deficient Children and Their Correlat...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9385284
Contrast Media & Molecular Imaging; Chen J, Wang X et. al.

Aug 26th, 2022 - This study aims to explore the magnetic resonance imaging (MRI) findings of the pituitary gland (PG) in children with growth hormone deficiency (GHD) and their correlation with the growth hormone (GH) peak during clinical GH stimulation tests. Sixty-one children with GHD diagnosed and treated between December 2018 and December 2021 were retrospectively analyzed in terms of clinical and pituitar...

A 24-Year-Old Woman Presenting in the Third Trimester of Pregnancy with Nausea, Vomitin...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9423005
The American Journal of Case Reports; Naothavorn W, Thanapongpibul C et. al.

Aug 25th, 2022 - BACKGROUND Acute fatty liver of pregnancy (AFLP) is a rare obstetric emergency that most commonly occurs in the third trimester and has high mortality rates for the mother and fetus. AFLP is a diagnosis of exclusion supported by identifying 6 or more of the 15 Swansea criteria. This report is of a 24-year-old woman presenting in the third trimester of pregnancy with nausea, vomiting, and abdomi...

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyske...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388389
American Journal of Human Genetics; Tummala H, Walne A et. al.

Aug 6th, 2022 - Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disorder characterized by a triad of mucocutaneous features that include abnormal skin pigmentation, nail dystrophy, and oral leucoplakia. Despite the identification of several genetic variants that cause DC, a significant proportion of probands remain without a molecular diagnosis. In a cohort of eight independent DC-affected fami...

Hypersensitivity to ferroptosis in chromophobe RCC is mediated by a glutathione metabol...
https://doi.org/10.1073/pnas.2122840119
Proceedings of the National Academy of Sciences of the Un... Zhang L, Hobeika CS et. al.

Jul 23rd, 2022 - Chromophobe (Ch) renal cell carcinoma (RCC) arises from the intercalated cell in the distal nephron. There are no proven treatments for metastatic ChRCC. A distinguishing characteristic of ChRCC is strikingly high levels of reduced (GSH) and oxidized (GSSG) glutathione. Here, we demonstrate that ChRCC-derived cells exhibit higher sensitivity to ferroptotic inducers compared with clear-cell RCC....

Isolated ACTH deficiency following immunization with the BNT162b2 SARS-CoV-2 vaccine: a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297640
BMC Endocrine Disorders; Morita S, Tsuji T et. al.

Jul 20th, 2022 - The global COVID-19 pandemic requires urgent development of new vaccines. Endocrinological adverse effects following the new mRNA vaccine against COVID-19 have been reported in several cases. Specific to the involvement of pituitary function; however, only a single case with hypophysis has been reported. This is the first case of isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) foll...

Rare case of primary carnitine deficiency presenting as acute liver failure.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9301812
BMJ Case Reports; Jain S, Kumar K et. al.

Jul 20th, 2022 - Systemic primary carnitine deficiency (PCD) is an autosomal recessive disorder caused by mutations in the SLC22A5 gene that encodes carnitine transporter, OCTN2. Transporter deficiency leads to defective fatty acid oxidation. Signs and symptoms ranging from liver injury in children to cardiomyopathy and skeletal myopathy in adults, manifest during periods of stress and fasting. Though acute liv...

Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick pos...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259100
Medicine Li Y, Zhang Y et. al.

Jul 9th, 2022 - Mitochondrial complex I deficiency (MCID) and abbFINCA syndrome are lethal congenital diseases and cases in the neonatal period are rarely reported. Here, we identified a Chinese Hani minority neonate with rare MCID and FINCA syndrome. This study was to analyze the clinical manifestations and pathogenic gene variations, and to investigate causes of quick postnatal death of patient and possible ...

Pyruvate kinase deficiency: clinical expression and new therapies.
https://www.ncbi.nlm.nih.gov/pubmed/35802872
Clinical Advances in Hematology & Oncology : H&O; Al-Samkari H

Jul 9th, 2022 - Pyruvate kinase deficiency: clinical expression and new therapies.|2022|Al-Samkari H,|deficiency,genetics,therapy,

PLA2G6-associated neurodegeneration in four different populations-case series and liter...
https://doi.org/10.1016/j.parkreldis.2022.06.016
Parkinsonism & Related Disorders; Hanna Al-Shaikh R, Milanowski LM et. al.

Jul 9th, 2022 - PLA2G6-Associated Neurodegeneration, PLAN, is subdivided into: Infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, and adult-onset dystonia parkinsonism [1]. It is elicited by a biallelic pathogenic variant in phospholipase A2 group VI (PLA2G6) gene. In this study we describe new cases and provide a comprehensive review of previously published cases. Eleven patients, from four diff...

Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient.
https://doi.org/10.1016/j.ejmg.2022.104558
European Journal of Medical Genetics; Nolan DK, Pastore MT et. al.

Jul 3rd, 2022 - NGLY1 deficiency is a rare congenital disorder of deglycosylation with a unique constellation of symptoms that include hypo- or alacrima, movement disorder, epilepsy, and severe intellectual disability (OMIM #615273). Here we report a patient with NGLY1 deficiency whose clinical presentation lacks many of the features associated with the disease and has a much milder intellectual disability tha...

A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Spl...
https://doi.org/10.1210/clinem/dgac397
The Journal of Clinical Endocrinology and Metabolism; Viakhireva I, Kalinchenko N et. al.

Jul 2nd, 2022 - The syndrome of adrenal insufficiency, obesity, and red hair is a rare autosomal recessive disorder. The majority of disease-causing variants associated with the syndrome are located in the coding region of the POMC gene. This work describes 7 unrelated patients who shared a novel homozygous mutation in the 5'-untranslated region (UTR) of the POMC gene and functionally characterize this novel v...

GREM1 is required to maintain cellular heterogeneity in pancreatic cancer.
https://doi.org/10.1038/s41586-022-04888-7
Nature Lan L, Evan T et. al.

Jun 30th, 2022 - Pancreatic ductal adenocarcinoma (PDAC) shows pronounced epithelial and mesenchymal cancer cell populations1-4. Cellular heterogeneity in PDAC is an important feature in disease subtype specification3-5, but how distinct PDAC subpopulations interact, and the molecular mechanisms that underlie PDAC cell fate decisions, are incompletely understood. Here we identify the BMP inhibitor GREM16,7 as a...

A small molecule redistributes iron in ferroportin-deficient mice and patient-derived p...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245668
Proceedings of the National Academy of Sciences of the Un... Ekaputri S, Choi EK et. al.

Jun 24th, 2022 - Deficiencies of the transmembrane iron-transporting protein ferroportin (FPN1) cause the iron misdistribution that underlies ferroportin disease, anemia of inflammation, and several other human diseases and conditions. A small molecule natural product, hinokitiol, was recently shown to serve as a surrogate transmembrane iron transporter that can restore hemoglobinization in zebrafish deficient ...

Moyamoya Disease Associated with a Deficiency of Complement Component 6.
https://doi.org/10.1016/j.jstrokecerebrovasdis.2022.106601
Journal of Stroke and Cerebrovascular Diseases : the Offi... Kato M, Kudo Y et. al.

Jun 20th, 2022 - Complement component 6 (C6) deficiency is a very rare genetic defect that leads to significantly diminished synthesis, secretion, or function of C6. In the current report, we demonstrate a previously undescribed, homozygous missense mutation in exon 17 of the C6 gene (c.2545A>G p.Arg849Gly) in a 35-year-old Japanese woman with moyamoya disease and extremely low levels of CH50 (<7.0 U/mL). The c...

N-Glycosylation Deficiency Reduces the Activation of Protein C and Disrupts Endothelial...
https://doi.org/10.1055/s-0042-1744378
Thrombosis and Haemostasis; Pascreau T, Saller F et. al.

Jun 20th, 2022 - Phosphomannomutase 2 (PMM2) deficiency is the most prevalent congenital disorder of glycosylation. It is associated with coagulopathy, including protein C deficiency. Since all components of the anticoagulant and cytoprotective protein C system are glycosylated, we sought to investigate the impact of an N-glycosylation deficiency on this system as a whole. To this end, we developed a PMM2 knock...

Cooperation between KDM6B overexpression and TET2 deficiency in the pathogenesis of chr...
https://doi.org/10.1038/s41375-022-01605-1
Leukemia Wei Y, Kanagal-Shamanna R et. al.

Jun 14th, 2022 - Loss-of-function TET2 mutations are recurrent somatic lesions in chronic myelomonocytic leukemia (CMML). KDM6B encodes a histone demethylase involved in innate immune regulation that is overexpressed in CMML. We conducted genomic and transcriptomic analyses in treatment naïve CMML patients and observed that the patients carrying both TET2 mutations and KDM6B overexpression constituted 18% of th...

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin p...
https://doi.org/10.1371/journal.pgen.1010228
PLoS Genetics; Hope KA, Berman AR et. al.

Jun 3rd, 2022 - NGLY1 deficiency, a rare disease with no effective treatment, is caused by autosomal recessive, loss-of-function mutations in the N-glycanase 1 (NGLY1) gene and is characterized by global developmental delay, hypotonia, alacrima, and seizures. We used a Drosophila model of NGLY1 deficiency to conduct an in vivo, unbiased, small molecule, repurposing screen of FDA-approved drugs to identify ther...