Results 121 to 130 of about 164,141 (253)

Level of diagnostic agreement in musculoskeletal shoulder diagnosis between remote and face‐to‐face consultations: A retrospective service evaluation

open access: yesHealth Science Reports
Background and Aims To determine the level of diagnostic agreement between remote and face‐to‐face consultation in assessing shoulder complaints. Methods A retrospective service evaluation with three groups of patient data; those assessed only face‐to ...
Louise Cockburn, Gill Baer, Jenna Rhodes
doaj   +1 more source

Mass radiography. [PDF]

open access: yesBMJ, 1970
D R, Wallace-Jones, M, Goldman
openaire   +2 more sources

McCune Albright Syndrome (MAS) : polyostotic fibrous dysplasia [PDF]

open access: yes, 2017
Augsburg, Lukasz   +2 more
core   +2 more sources

Severe Occupational Hypersensitivity Pneumonitis: A Case Series of Four Patients Requiring Lung Transplantation

open access: yesAmerican Journal of Industrial Medicine, EarlyView.
ABSTRACT Hypersensitivity pneumonitis (HP) is an immune‐mediated interstitial lung disease triggered by repeated inhalation of organic or chemical antigens. Occupational exposures account for approximately 19% of all cases. Early diagnosis, identification of the responsible antigen(s), and immediate avoidance of exposure are crucial to prevent ...
Ludwig Frei‐Stuber   +6 more
wiley   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang   +6 more
wiley   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline   +3 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij   +5 more
wiley   +1 more source

Effect and Threshold of Endoscopic Findings for CRS Control Status and Long‐Term Outcome Prediction

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background EPOS 2020 defined chronic rhinosinusitis (CRS) disease control using patient symptoms and medication usage but endoscopic findings were considered optional. The effect of adding endoscopic features, an appropriate threshold, and their association with present or future symptom control have not been studied.
Steven Chun‐Kang Liao   +14 more
wiley   +1 more source

Rice bodies associated with rheumatoid arthritis [PDF]

open access: yes, 2017
Anisau, Aliaksandr   +2 more
core   +2 more sources

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