Results 131 to 140 of about 207,710 (257)

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

Metabolic syndrome and associated factors among outpatients of Jimma University Teaching Hospital

Diabetes, Metabolic Syndrome and Obesity, 2016
Edris Abda,1 Leja Hamza,2 Fasil Tessema,3 Waqtola Cheneke4 1Department of Medicine, College of Medicine and Health Sciences, Madda Walabu University, Bale Robe, 2Department of Internal Medicine, 3Department of Epidemiology, 4Department of Medical ...
Abda E, Hamza L, Tessema F, Cheneke W
doaj  

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +1 more source

Advancing Understanding of Subjective Liveability for People With Disability

Australian Journal of Social Issues, EarlyView.
ABSTRACT Modern liveability frameworks aim to enhance health and well‐being through equity‐based measures across built, natural, social, and economic environments, yet they often overlook the perspectives of people with disability. This study explored expectations of liveable neighbourhoods among adults with diverse disability experiences in urban and ...
Maria Hobbs, Kim Jose, Ceridwen Owen, Verity Cleland   +3 more
wiley   +1 more source

Inflammatory Signatures Beyond Th1/Th2 Endotypes Provide Insights Into Postoperative Recurrence in Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) represents a spectrum of inflammatory endotypes, driven by distinct T helper (Th) immune responses. The high rate of recurrent disease despite appropriate medical and surgical interventions highlights the need for improved characterization beyond the traditional type 2 and non‐type 2 phenotypes to better
Liyona Kampel, Narin N. Carmel, Shaun Edalati, Hen Chaushu, Forsan Jahshan, Yaniv Hadi, Timur Pestrikov, Leonor Leider Trejo, Nidal Muhanna, Avraham Abergel   +9 more
wiley   +1 more source

Healing Following Endoscopic Reconstruction of the Anterior Skull Base in Patients With Sinonasal Malignancies

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Healing dynamics after anterior skull base (ASB) reconstruction following transnasal endoscopic surgery (TES) for sinonasal malignancies remain poorly characterized. This study aimed to describe the postoperative healing process, quantify time to healing, identify factors influencing healing, and assess radiologic evolution over ...
Giacomo Contro, Leonardo Calvanese, Piergiorgio Gaudioso, Stefano Taboni, Mosè Sozzi, Gloria Schiavo, Alessandra Sordi, Isabelle Dohin, Francesca Mularoni, Giuseppe Roccuzzo, Ester Orlandi, Barbara Vischioni, Gianluca Dalfino, Carlotta Pessina, Roberto Maroldi, Mario Turri‐Zanoni, Cesare Piazza, Paolo Battaglia, Maurizio Bignami, Paolo Castelnuovo, Davide Mattavelli, Piero Nicolai, Marco Ferrari   +22 more
wiley   +1 more source

Biologics Adoption in CRSwNP and the Associated Decline in Endoscopic Sinus Surgery: A Longitudinal Claims Database Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Biologic treatments were introduced for chronic rhinosinusitis with nasal polyps (CRSwNP) in 2019. Treatment algorithms for medically refractory CRSwNP remain open, with patients choosing among surgery, biologics, or both. Real‐world utilization of surgery and biologics remains incompletely characterized.
Stephanie Shintani Smith, Sam L. Kaefer, Harsh Duvvuru, Robert C. Kern, Brent A. Senior, Vijay R. Ramakrishnan   +5 more
wiley   +1 more source

Increased Risk of Subsequent Cancers in Patients With Sézary Syndrome

American Journal of Hematology, EarlyView.
Julia Nenonen, Despoina Tsakona, Philip Curman, Hanna Brauner   +3 more
wiley   +1 more source

Cognitive Dysfunction in Chronic Rhinosinusitis: A Scoping Review

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Cognitive dysfunction is increasingly recognized as an extra‐nasal manifestation of chronic rhinosinusitis (CRS). This scoping review characterizes the primary evidence on cognition in adult CRS, covering measures, treatment response, and incident dementia.
Luke M. O'Neil, Hannan A Qureshi, Logan Lindemann, David J. Cvancara, Ashton E. Lehmann, Aria Jafari   +5 more
wiley   +1 more source