Results 231 to 240 of about 251,935 (309)

Exploring the Burden on Patients Living With and Receiving Treatment for Immune Thrombocytopenia (ITP): Patient and Physician Perceptions From the ITP World Impact Survey (I‐WISh) 2.0

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Limited data exist on how patients and physicians perceive immune thrombocytopenia (ITP) symptoms and treatment‐related burden. I‐WISh (ITP World Impact Survey) 2.0 surveyed 1018 patients and 431 physicians in 15 countries to characterize the impact of ITP and its treatments on patients.
Nichola Cooper   +17 more
wiley   +1 more source

Per‐ and Polyfluoroalkyl Substances (PFAS) Exposure Profiles and Their Predictors in a Study of US Volunteer Firefighters

open access: yesAmerican Journal of Industrial Medicine, EarlyView.
ABSTRACT Introduction Firefighters may experience occupational exposure to per‐ and polyfluoroalkyl substances (PFAS). Volunteer firefighters make up 65% of the US fire service, but their serum PFAS profiles have not been well characterized. This study aims to (1) describe PFAS serum profiles among US volunteer firefighters from 9 states enrolled in ...
Katherine A. Lubina   +16 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet   +10 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta   +17 more
wiley   +1 more source

Integrating HIV prevention with family planning services for adolescent girls and young women in Uganda: perspectives of adolescent girls and young women, health care providers, and policymakers. [PDF]

open access: yesFront Reprod Health
Tumusiime JK   +12 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

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