Results 141 to 150 of about 85,709 (260)

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Role of preoperative CT imaging in penetrating thoraco-abdominal injuries: A multicenter study of urban trauma centers. [PDF]

Am J Surg
Harris M, Bolaji T, DiStefano S, Subedi K, Getchell J, Knapp K, Sheth A, Egodage T, Faizi Z, Morales J, Seng SS, Hlopak J, Parthiban V, Batool A, Kaufman EJ, Ratnasekera AM.   +15 more
europepmc   +1 more source

Are serial hematocrit measurements sensitive enough to predict intra-abdominal injuries in blunt abdominal trama? [PDF]

Open Access Emerg Med, 2019
Mosaddegh R, Ashayeri N, Rezai M, Masoumi G, Vaziri S, Mohammadi F, Givzadeh H, Noohi N.   +7 more
europepmc   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

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, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Forensic medical evaluation of penetrating abdominal injuries. [PDF]

Ulus Travma Acil Cerrahi Derg
Eryiğit İbiş C, Aliustaoğlu FS.
europepmc   +1 more source

Antibiotic use in patients with abdominal injuries: guideline by the Korean Society of Acute Care Surgery. [PDF]

Ann Surg Treat Res, 2019
Jang JY, Kang WS, Keum MA, Sul YH, Lee DS, Cho H, Lee GJ, Lee JG, Hong SK, Korean Society of Acute Care Surgery (KSACS) Clinical Research Group.   +9 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Assessing outpatient follow-up care compliance, complications, and sequelae in children hospitalized for isolated traumatic abdominal injuries. [PDF]

J Pediatr Surg, 2019
Ogbemudia B, Raymond J, Hatcher LS, Vetor AN, Rouse T, Carroll AE, Bell TM.   +6 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Incidence of intra-abdominal injuries in hemodynamically stable blunt trauma patients with a normal computed tomography scan admitted to the emergency department. [PDF]

BMC Emerg Med
Zarama V, Torres N, Duque E, Arango-Ibañez JP, Duran K, Azcárate V, Maya DA, Sánchez ÁI.   +7 more
europepmc   +1 more source