Results 21 to 30 of about 6,256 (136)

Difficult intubation in a parturient with syringomyelia and Arnold-Chiari malformation: Use of Airtraq™ laryngoscope

Saudi Journal of Anaesthesia, 2011
Anesthetic technique in parturient with syringomyelia and Arnold-Chiari malformation is variable depending on the teams. Difficult intubation is one of the risks when general anesthesia is opted.
Bensghir Mustapha, K Chkoura, M Elhassani, R Ahtil, H Azendour, N Drissi Kamili   +5 more
doaj   +1 more source

A rare clinical case of syringomyelia progression in the presence of Chiari I malformation following the surgery

Южно-Российский онкологический журнал, 2023
Today, an Arnold-Chiari malformation is defined as a developmental pathology of the craniovertebral junction manifested by a discrepancy between the volume and contents of the posterior cranial fossa, which in turn leads to compression of neurological ...
E. E. Rostorguev, N. S. Kuznetsova, A. A. Maslov, V. E. Hatyushin, B. V. Matevosyan, G. A. Reznik, O. V. Pandova, E. V. Shalashnaya   +7 more
doaj   +1 more source

The significance of occipitocervical dura angulation in selection of surgery procedures for Chiari malformation type I

Journal of Neurorestoratology, 2019
At present, the common surgical procedures for the Chiari malformation type I are comprised of posterior fossa decompression, duraplasty and tonsillectomy. Some neurosurgeons prefer these so called minimally invasive surgeries.
Bo Xiu, Rui Zhang
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 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

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

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

ЕPILEPTIC SEIZURES IN PATIENTS WITH CRANIOVERTEBRAL JUNCION ANOMALY

Эпилепсия и пароксизмальные состояния, 2016
Purpose: Studing seizure in patients with Chiari I malformation. Methods: 111 patients (58 females, 53 males) with Arnold-Chiari I malformation and epilepsy were examined with cognitive and behavioral examinations, EEG, MRI. Results: Patients with Arnold-
M. R. Yarmuchametova
doaj  

Morphometric assessment of the posterior cranial fossa and its contents in patients with chiari malformation type I and type 0

Acta Neurochirurgica
Background Chiari Malformation Type I and Type 0 are congenital malformations diagnosed by MRI findings of at least 5 mm and less than 3 mm of cerebellar ectopy below the foramen magnum respectively.
Busra Candan, Birol Ozkal, Esra Top
doaj   +1 more source