Results 231 to 240 of about 8,241,367 (308)

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, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

Pulmonary artery floating sign: a novel predictor of fatal haemoptysis in pulmonary mucormycosis and its early intervention strategy. [PDF]

BMJ Open Respir Res
Yu M, Jiang F, Guo L, Wu H, Tong X, Wang H, Gao L, Li Y, Wang J, Fan H, Wang Y.   +10 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Olanzapine Induced Necrotizing Pancreatitis and Pancreatico-Pleural Fistula Mandating Robotic Pancreatectomy. [PDF]

CRSLS
Atto R, Shapera EA.
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Granular cell tumor of the pancreas mimicking pancreatic ductal adenocarcinoma: a case report. [PDF]

BMC Gastroenterol
Béndek M, Pozzi-Mucelli R, Moro CF, Gilg S.   +3 more
europepmc   +1 more source

Microbial‐Metabolite Signatures Are Associated With Glucocorticoid Responsiveness in Chronic Rhinosinusitis With Nasal Polyps

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Patients with chronic rhinosinusitis with nasal polyps (CRSwNP) exhibit heterogeneous responses to oral glucocorticoids (GCs), but the biological basis of this variability remains unclear. Objective To identify gut microbiome‒plasma metabolomic signatures associated with GC responsiveness in CRSwNP patients and to compare their ...
Ying‐Ying Zhang, Xin‐Yu Ding, Mei‐Ping Lu, Yan‐Bing Chen, Ye Yuan, Lin Jiang, Min Zhang, Lei Cheng   +7 more
wiley   +1 more source

MRI for patients with autism: evaluating radiologic technologists' awareness and practice in Saudi healthcare settings. [PDF]

BMC Med Educ
Aldusary N, Alharbi S, Alahmadi AAS, Alghamdi AH, Baeshen A, Alsalah J, Alyami AS.   +6 more
europepmc   +1 more source

Poly(I:C)‐Activated Nasal Fibroblasts Promote Eosinophil Recruitment in CRSwNP

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is characterized by persistent mucosal inflammation and eosinophilic infiltration. Although epithelial and immune cells have been widely studied, the role of nasal fibroblasts in innate immune activation and eosinophil recruitment remains unclear.
Chaewon Shin, An‐Gi Kim, Byeong Min Yu, Woo‐Keun Kwon, Min‐Ho Hwang, Joo‐Hoo Park   +5 more
wiley   +1 more source