Results 151 to 160 of about 565,854 (305)

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

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

Outpatient surgery in day clinics.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1972
The results of outpatient surgery performed in a day clinic (unattached operating-theatre unit) on 5321 patients in the period 1965 - 1971 by general practitioners and consultant surgeons are outlined and discussed. The types of surgery which can be undertaken are outlined and the dangers and precautions are analysed.
openaire   +2 more sources

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

Standard care in diabetic kidney disease: a survey of medical specialists in diabetes and nephrology outpatient clinics.

, 2010
Standard care in diabetic kidney disease: a survey of medical specialists in diabetes and nephrology outpatient ...
AF Williams (9919614), R Walker (7706534), E Manias (9858650)   +2 more
core  

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

Testing DEA Models of Efficiency in Norwegian Psychiatric Outpatient Clinics [PDF]

While measures of output in mental health care are even harder to find than in other health care activities, some indicators are available. In modelling productive efficiency the problem is to select the output variables that best reflect the use of ...
Magnussen, Jon, Kittelsen, Sverre A.C.
core  

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