Results 181 to 190 of about 94,980 (310)

Perilunate fracture-dislocation with scaphoid nonunion and ulnar nerve deficit in a young adult: a case report and review of the literature. [PDF]

J Surg Case Rep
Ababtain I, AlNahari AS, Korkoman AJ, Khidhr RMB, Alanazy TM, Altuwaijri RA.   +5 more
europepmc   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Early Presentation of Acute Digital Ischemia After Intra-Arterial Injection Drug Use. [PDF]

J Hand Surg Glob Online
Echeverria N, Kurucan E, Gubara K, Solarz M.   +3 more
europepmc   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Statistical Fragility of Randomized Control Trials Comparing Surgical and Conservative Management of Distal Radius Fractures in Elderly Patients. [PDF]

Hand (N Y)
Campa-Maldonado CM, Acosta-Julbe JI, Guzmán-Gutierrez J, Silva-Aponte JA, Foy-Parrilla C.   +4 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Complex Volar Carpometacarpal Dislocation with Concomitant Thumb Interphalangeal Injury: A Case Report. [PDF]

J Orthop Case Rep
Touré L, Sidibé M, Sanogo TF, Bah A, Moussa AK.   +4 more
europepmc   +1 more source

Australia's Migration Strategy: An Effective Response to Migrant Worker Exploitation?

Australian Journal of Social Issues, EarlyView.
ABSTRACT A series of publicised migrant worker injuries and deaths has drawn attention to the issue of migrant worker exploitation (MWE) in Australia. In response, the Australian Government has included ‘Tackling Worker Exploitation’ as a key area of its Migration Strategy which it introduced in 2023. However, it is unclear how effective the Strategy’s
Evelyn Dowling, Alexandra Ridgway
wiley   +1 more source

Functional Outcomes and Early Complications Following Volar Locking Plate Fixation of Unstable Distal Radius Fractures: A Minimum Two-Year Follow-Up Study. [PDF]

Cureus
Malisorn S.
europepmc   +1 more source

Automatic measurements of volar tilt and radial inclination of the distal radius on 3D models: validation against manual methods. [PDF]

Sci Rep
Gryska E, Libberecht K, Andersson J, Swinkels CS, Axelsson P, Björkman A.   +5 more
europepmc   +1 more source