Results 61 to 70 of about 66,512 (257)

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

American 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, Judith Mohren, Ester Mau, Bernhard Werner, Rudolf A. Hatz, Jürgen Barton, Dennis Nowak   +6 more
wiley   +1 more source

Subacute Presentation of Central Cord Syndrome Resulting from Vertebral Osteomyelitis and Discitis: A Case Report [PDF]

, 2020
Introduction: Central cord syndrome (CCS) is a clinical syndrome of motor weakness and sensory changes. While CCS is most often associated with traumatic events.
Cerda, Melinda, Dang, Thomas, Dong, Fanglong, Fenati, Greg, Neeki, Michael M., Rabiei, Massoud   +5 more
core  

Preganglionic innervation of the pancreas islet cells in the rat [PDF]

, 1984
The position and number of preganglionic somata innervating the insulin-secreting β-cells of the endocrine pancreas were investigated in Wistar rats.
Horst, G.J. ter,, Koopmans, S.J.,, Luiten, P.G.M.,, Rietberg, M.,, Steffens, A.B.,   +4 more
core   +2 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

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

American 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, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Morphometric Imaging for Age Estimation in Adult Thoracic Vertebrae: A Systematic Review

Advances in Human Biology
Age estimation is crucial in forensic anthropology for identifying unknown individuals. While thoracic vertebrae offer reliable age markers through morphological changes, traditional methods often lack accuracy and consistency.
Nadiawati Abdul Razak, Mohd Farid Abdul Rahman, Aspalilah Alias, Mainul Haque   +3 more
doaj   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Retrospective analysis of deformed complex vertebral osteotomy in children with severe thoracic post-tubercular angular kyphosis

BMC Musculoskeletal Disorders, 2022
Background Many surgical options have been described to manage post-tubercular kyphosis, but the standard approach for treating severe post-tubercular angular kyphosis in children has not been established yet.
Hong-Qi Zhang, Ang Deng, Chao-Feng Guo, Qi-Le Gao, Emmanuel Alonge   +4 more
doaj   +1 more source

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

American 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, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source