Results 81 to 90 of about 243,558 (269)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura +2 more
wiley +1 more source
IJU Case ReportsIntroduction We present a rare case of tuberculous retroperitoneal lymphadenitis after kidney transplantation that was difficult to diagnose and treat. Case Presentation A 52‐year‐old man who received a kidney transplantation from his wife presented with
Ryota Nakayasu +8 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Iranian Journal of Pediatric Surgery, 2018 Introduction: Although radiologic guided abscess drainage with a drainage catheter has been a successful method for treatment of appendicular abscess after surgery, single stage aspiration technique could also be used as a good option in children with ...
Alireza Saeedi +4 more
doaj +1 more source
Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila +3 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Introduction Traditional management of traumatic skull base dural injury has often favored observation and conservative therapy, despite the risk of delayed intracranial complications. This paradigm originated when operative intervention required craniotomy and carried significant morbidity.
Jessica W. Grayson +9 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Native postbiotics and paraprobiotics derived from Lactobacillus and Bifidobacterium strains were administered to dextran sulfate sodium–treated C57BL/6 mice to evaluate their impact on kidney inflammation via the gut–kidney axis. Histological analysis and quantitative polymerase chain reaction of autophagy‐related genes (atg5, atg7, atg12, atg13 ...
Fatemeh Haririzadeh Jouriani +6 more
wiley +1 more source