Results 121 to 130 of about 573,488 (281)

Diffuse cranial vault hyperostosis associated with long‐term antiepileptic therapy: Autopsy findings and differential diagnostic considerations

Journal of Forensic Sciences, EarlyView.
Abstract Diffuse cranial vault hyperostosis is an uncommon finding and may present a diagnostic challenge in clinical and forensic practice. We report the case of a 53‐year‐old woman with a long‐standing history of epilepsy treated with phenytoin and sodium valproate who collapsed at home suddenly and died despite resuscitative efforts.
Maria Piagkou, Athina Tousia, George Triantafyllou, Dimitrios Vlachodimitropoulos, Samer Al Besher, Panagiotis Manolarakis‐Papadopoulos, Alexandros Samolis, Stavroula Papadodima   +7 more
wiley   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

When should secondary procedures be performed in residual hip dysplasia?

Acta Orthopaedica et Traumatologica Turcica, 2007
Residual hip dysplasia is one of the most important complications following treatment of developmental hip dysplasia. If untreated, this condition will cause problems during maturity.
Yucel TUMER, Haluk AGUS, Ali BICIMOGLU
doaj  

Seromucinous borderline ovarian tumors: Clinical and ultrasound characteristics and association with endometriosis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Seromucinous borderline ovarian tumors frequently appear as unilateral, left‐sided cysts with ground‐glass echogenicity and moderately vascularized solid components. Their strong association with ipsilateral endometriosis provides crucial sonographic and clinical clues for an accurate preoperative diagnosis.
Simona Del Forno, Marisol Doglioli, Chiara Landolfo, Giovanna Palomba, Claudia Vicenzi, Matilde Antonelli, Lucia De Meis, Francesca Govoni, Roberto Paradisi, Diego Raimondo, Renato Seracchioli   +10 more
wiley   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Narrative Review on Therapies That Influence Inflammatory Responses During Extremely Premature Perinatal Respiratory Transition

Acta Paediatrica, EarlyView.
ABSTRACT Aims and Methods Advances in neonatal care have extended borderline survival to 22–24 post‐conceptional weeks. Present review discusses approaches for prolonging short pregnancies and prevention of serious morbidities in extremely premature infants born before 28 weeks of pregnancy.
Mikko Hallman
wiley   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

A Rare Case of Cutaneous Extramedullary Hematopoiesis in Chronic Myeloid Leukemia

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous extramedullary hematopoiesis (CEH) is a rare manifestation of extramedullary hematopoiesis (EMH), a process typically associated with fetal development or myeloproliferative neoplasms. EMH most commonly involves the spleen, liver, and lymph nodes, with CEH being exceedingly rare in chronic myeloid leukemia (CML).
Bennett Christie‐Nguyen, Hanadi El Achi, Levani Iashvili, Amer Wahed, Brenda Mai, Jacob Armstrong   +5 more
wiley   +1 more source

The Spinal Muscular Atrophy Functional Classification System

Developmental Medicine &Child Neurology, EarlyView.
The Spinal Muscular Atrophy Functional Classification System (SMAFCS) is a new four‐level functional mobility classification for spinal muscular atrophy, derived from Hammersmith Functional Motor Scale Expanded (HFMSE) thresholds and Functional Mobility Scale (FMS) groupings.
Jason J. Howard, H. Kerr Graham, M. Wade Shrader, Mary Schroth, Manish Kumar, Sadettin Ciftci   +5 more
wiley   +1 more source

Musculoskeletal health among adults with cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To describe the burden of, and investigate prognostic factors for, osteoarthritis, osteopenia and/or osteoporosis, spondylosis, and fracture, and to investigate the effectiveness of protocols for monitoring musculoskeletal disorders and interventions for managing osteoarthritis in adults with cerebral palsy (CP).
Jennifer M. Ryan, Jessica Burke, Rachel Byrne, Emily Capellari, Christina M Marciniak, Maram Sofiany, Reuel Jalal, Mark Peterson, The Adult CP Clinical Practice Guideline Working Group, Jan Willem Gorter, Ashley Harris Whaley, Christine Imms   +11 more
wiley   +1 more source