Results 71 to 80 of about 71,388 (264)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +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

Morphometric Analysis of the Posterior Fossa and Cervical Spinal Canal in Type 1 Chiari Malformation and Its Effects on Syringomyelia Development

İstanbul Medical Journal
Introduction: Chiari malformation (CIM) is a congenital anomaly characterized by herniation of hindbrain structures through the foramen magnum into the cervical spinal canal (CSC).
Tahsin Saygı, Ahmet Kayhan, Nail Demirel   +2 more
doaj   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

POSTERIOR FOSSA SURGERY

British Journal of Anaesthesia, 1982
F, Walters, M J, Torrens
openaire   +4 more sources

Cisticercose do quarto ventrículo simulando neoplasia da fossa posterior a cintilografia cerebral: relato de um caso

Arquivos de Neuro-Psiquiatria, 1978
É relatado o caso de uma criança de 12 anos de idade apresentando quadro de hipertensão endocraniana e síndrome cerebelar, cujos exames neurológico e neuroradiológicos foram sugestivos de neoplasia de fossa posterior.
Sydney F. de Morais-Rego, Nilton L. Latue   +1 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Sandwich wound closure reduces the risk of cerebrospinal fluid leaks in posterior fossa surgery

Clinics and Practice, 2016
Posterior fossa surgery is demanding and hides a significant number of obstacles starting from the approach to the wound closure. The risk of cerebrospinal fluid (CSF) leakage in posterior fossa surgery given in the literature is around 8%.
Verena Heymanns, Abidemi W. Oseni, Ameer Alyeldien, Homajoun Maslehaty, Richard Parvin, Martin Scholz, Athanasios K. Petridis   +6 more
doaj   +1 more source

On the Prospects for African Philosophy in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley   +1 more source

Trigeminal neuralgia and posterior fossa meningioma: case report and review of literature

Egyptian Journal of Neurosurgery, 2019
Trigeminal neuralgia may be idiopathic or may involve other causes. It can be secondary to posterior fossa tumors many times. In the present case, posterior fossa meningioma was detected with trigeminal neuralgia together. However, relevant meningioma is
Hasan Burak Gunduz, Yaser Ozgunduz, Abdullah Emre Tacyildiz, Erhan Emel, Murad Asilturk   +4 more
doaj   +1 more source