Tag: Diseases

Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases – Orphanet Journal of Rare Diseases

The present study of familial Glut1-DS focused on five families with up to three affected generations. We analyzed the clinical picture in children and adults and reported the evolution of…

Modeling lung diseases using reversibly immortalized mouse pulmonary alveolar type 2 cells (imPAC2) – Cell & Bioscience

Evans KV, Lee JH. Alveolar wars: the rise of in vitro models to understand human lung alveolar maintenance, regeneration, and disease. Stem Cells Transl Med. 2020;9(8):867–81. https://doi.org/10.1002/sctm.19-0433. Article  PubMed  PubMed…

Prevention and control of non-communicable diseases in antenatal, intrapartum, and postnatal care: a systematic scoping review of clinical practice guidelines since 2011 – BMC Medicine

The database searches identified 6026 unique records (PRISMA flow diagram is provided in Fig. 1). Screening of titles and abstracts identified 1511 potentially relevant records, of which 357 guidelines were…

Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy – Orphanet Journal of Rare Diseases

Moshirfar M, Drake TM, Ronquillo Y: Congenital Hereditary Endothelial Dystrophy. In: StatPearls. Treasure Island (FL); 2022. Jeang LJ, Margo CE, Espana EM. Diseases of the corneal endothelium. Exp Eye Res.…

Travel related histoplasmosis – a diagnostic challenge in a patient with tumor necrosis factor alpha (TNF-α) inhibitor therapy – Tropical Diseases, Travel Medicine and Vaccines

Histoplasma capsulatum, The fungus that causes histoplasmosis, is ubiquitous, but it’s most commonly encountered in specific endemic areas, including North-, Central- and South America, Africa, India and Southeast Asia [3]. In…