Results 31 to 40 of about 11,001 (183)

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Huge abdominal cerebrospinal fluid pseudocyst following ventriculoperitoneal shunt: a case report

Journal of Medical Case Reports, 2019
Introduction Abdominal pseudocysts comprising cerebrospinal fluid are an uncommon but significant complication in patients with ventriculoperitoneal shunt.
Yasuhiro Koide, Takaaki Osako, Masahiro Kameda, Hiromi Ihoriya, Hirotsugu Yamamoto, Noritomo Fujisaki, Toshiyuki Aokage, Tetsuya Yumoto, Isao Date, Hiromichi Naito, Atsunori Nakao   +10 more
doaj   +1 more source

Chiari I Malformation: Review and Update of Current Treatment Options

Clinical Anatomy, EarlyView.
ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo, Shuhei Shiino, Stephen Z. Shapiro, Brianna L. Hines, Noritaka Komune, Carmine Antonio Donofrio, Filippo Badaloni, Antonio Fioravanti, Joseph Lockwood, C. J. Bui, Aaron S. Dumont, R. Shane Tubbs   +11 more
wiley   +1 more source

Chronic calcified subdural empyema, a rare, long-term complication following ventriculoperitoneal shunt insertion: A report on two cases

Interdisciplinary Neurosurgery, 2022
Chronic calcified subdural empyema is an extremely rare complication of ventriculoperitoneal shunt. The authors report two consecutive cases of chronic calcified subdural empyema, which are bilateral for the first one and unilateral right for the second ...
Louncény Fatoumata Barry, Roger Mulumba Ilunga, Yakhya Cisse, Hugues Ghislain Atakla, Mohameth Faye, Abdoulaye Diop, Momar Code Ba   +6 more
doaj   +1 more source

Guidelines for replacement of a balloon gastrostomy tube in infants and pediatric patients: The American Society for Parenteral and Enteral Nutrition

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Balloon gastrostomy tube (BGT) placements are increasing due to their ability to facilitate care of medically complex children. Management for routine and nonroutine tube replacement, including verification of proper replacement, lacks standardization, varying widely among different institutions and settings.
Beth Lyman, Loren Berman, Kathleen Carr, Cailin Frank, Peggi Guenter, Rachel Kassel, Janet Kimble, Carol McGinnis, Silvana Oppedisano, Elizabeth A. Paton, Gina Rempel, Derek S. Wakeman, David D. Church, Jacob T. Mey, Sarah Peterson, Liam McKeever   +15 more
wiley   +1 more source

Cranial Migration of a VP Shunt—A Routine Procedure with a Rare Complication!

Indian Journal of Neurosurgery
Ventriculoperitoneal shunt is one of the commonest neurosurgical procedures associated with a high-rate complication. Moreover, the variety of complications are nonetheless astonishing. Shunt malfunction is considered the most common complication of this
Aman Singh, Awadhesh Yadav, Pritesh Yadav, Bal Krishna Ojha   +3 more
doaj   +1 more source

Ventriculoperitoneal shunt catheter tract glioblastoma multiform concomitant to infection

Interdisciplinary Neurosurgery, 2019
Given the high rate of hardware infection seen due to ventriculoperitoneal shunts, radiographic changes near the shunt system are most often concerning for infectious etiology.
Matthew Amarante, Pouya Entezami, Kavita Umrau, Junichi Yamamoto   +3 more
doaj   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Intermittent entrapment of choroid plexus in ventricular catheter

Interdisciplinary Neurosurgery, 2017
Ventriculoperitoneal (VP) shunt placement remains the primary treatment option for most cases of pediatric hydrocephalus. However, these devices have a relatively high complication with malfunction commonly attributed to proximal catheter occlusion ...
Guanxiong Mao, MD, Nitin Agarwal, MD, Giulio Zuccoli, MD, Elizabeth C. Tyler-Kabara, MD, PhD   +3 more
doaj   +1 more source