Results 21 to 30 of about 833 (169)
, 2021 Background: Universal concern is an increased prevalence of morbidity, mortality; with improper comprehension, the globe has implemented, non evidence-based medical practice, without therapeutic indication, therapeutic protocols, policies-contraception ...
Elizabeth JeyaVardhini Samuel
core +2 more sources
Sphincter Pharyngoplasty for Velopharyngeal Dysfunction: Impact of 22q11.2 Deletion Syndrome
The Laryngoscope, Volume 133, Issue 10, Page 2813-2820, October 2023., 2023 Objective Patients with 22q11.2 deletion syndrome (22q11DelS) often present with velopharyngeal dysfunction (VPD). VPD in patients with 22q11DelS is multifactorial beyond velopharyngeal insufficiency (VPI) alone, and differences in surgical outcomes are poorly understood.
Prasanth Pattisapu +6 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 193, Issue 2, Page 188-192, June 2023., 2023 Abstract Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (SEMDJL2), is a rare bone dysplasia that results from hotspot (amino acids148/149) mutations in KIF22. Clinically, affected individuals present with generalized joint laxity, limb malalignment, midface hypoplasia, gracile digits, postnatal short stature, and occasionally ...
Alexander Beke +3 more
wiley +1 more source
Epilepsia, Volume 64, Issue 5, Page 1351-1367, May 2023., 2023 Abstract Objective WWOX is an autosomal recessive cause of early infantile developmental and epileptic encephalopathy (WWOX‐DEE), also known as WOREE (WWOX‐related epileptic encephalopathy). We analyzed the epileptology and imaging features of WWOX‐DEE, and investigated genotype–phenotype correlations, particularly with regard to survival.
Karen L. Oliver +22 more
wiley +1 more source
Craniofacial morphology in adults with osteogenesis imperfecta—A cross‐sectional study
Orthodontics &Craniofacial Research, Volume 26, Issue 2, Page 248-255, May 2023., 2023 Abstract Objectives The aim of this study was to compare the craniofacial and neurocranial morphology of adults with osteogenesis imperfecta (OI) with controls and to elucidate whether osseous origin impacts on morphological deviations in OI. Materials and Methods Fifty‐four adults (mean age 45.8) with OI type I, 14 adults (mean age 42.6) with OI types
Hans Gjørup +3 more
wiley +1 more source
Endoscopic endonasal approach to the craniovertebral junction
World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 8, Issue 1, Page 16-24, March 2022., 2022 Abstract The surgical approach to lesions of the ventral craniovertebral junction (CVJ) has evolved significantly in the last several years with the advent of endoscopic skull base surgery. Differing pathologies of the CVJ can result in irreducible compression of the cervicomedullary region.
Ashleigh A. Halderman, Samuel L. Barnett
wiley +1 more source
Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants. [PDF]
Orthod Craniofac Res, 2023 INTRODUCTION: Cranio-cervical anomalies are significant complications of osteogenesis imperfecta (OI), a rare bone fragility disorder that is usually caused by mutations in collagen type I encoding genes.
Marulanda J +6 more
europepmc +2 more sources
Case Reports in Pediatrics, Volume 2022, Issue 1, 2022., 2022 Introduction. Pituitary differentiation involves a large number of transcription factors. In particular, BMP4 expression is fundamental for pituitary gland commitment from the ventral diencephalon, suppressing Shh expression in Rathke’s pouch. Pathogenic variants in BMP4 are reported in the literature with a broad phenotypic spectrum, including ...
Valeria Calcaterra +9 more
wiley +1 more source
Application of Enhanced Recovery after Surgical Treatment of the Occipitocervical Region
Orthopaedic Surgery, Volume 13, Issue 4, Page 1269-1276, June 2021., 2021 This study investigated 208 consecutive patients to provide guidance for the improved postoperative rehabilitation of patients with occipitocervical region disease. We found enhanced recovery after surgery can provide benefits when it applied to patients undergoing occipitocervical surgery mainly in terms of reducing postoperative complications ...
Peng Liu +5 more
wiley +1 more source
Chiari malformation and its influence on trigeminal neuralgia: a systematic review. [PDF]
Ann Med Surg (Lond)Objective:In order to properly understand the correlation between TN and Chiari malformation type I (CMI), it is imperative to delve into the underlying processes and develop efficacious treatment strategies.Methods:A comprehensive search was performed ...
Badary A +12 more
europepmc +2 more sources