Results 141 to 150 of about 818,853 (310)

Help‐Seeking and Substance Use Among Police Staff After the 2018 Strasbourg Christmas Market Attack

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background The use of mental health services by police staff is usually low. After the 2018 attack on the Strasbourg Christmas market, police officers exposed to psychotraumatic risks were found to have a higher PTSD risk. This study aims to describe the help‐seeking and substance use by police staff after the attack.
Nathalie Nourry, Ludivine Nohales, Laurence Lalanne, Emmanuel Fort, Maria Gonzalez, Pierre Vidailhet, Amaury C. Mengin, Barbara Charbotel   +7 more
wiley   +1 more source

Training for Occupational Medicine [PDF]

Proceedings of the Royal Society of Medicine, 1969
openaire   +5 more sources

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

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

American 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, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Occupational medicine in Brazil [PDF]

Occupational Medicine, 2009
Fernanda, Leite Lima, Rita de Cássia, Pereira Fernandes   +1 more
openaire   +2 more sources

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

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

American 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, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source