Results 61 to 70 of about 54,673 (271)

Laparoscopic trans-cystic common bile duct stone retrieval in a patient with gallbladder agenesis [PDF]

, 2019
Gallbladder agenesis is a rare but well-documented anatomical variation. Pre-operative diagnosis may be difficult as patients can present with typical symptoms of biliary colic and imaging may be misleading. We report a case of choledochoscopy and common
Privett, Benjamin, Houli, Nezor, Bakhit, Jacqueline   +2 more
core   +1 more source

Reflex seizures and epilepsy surgery: A network approach case‐based exploration

Epileptic Disorders, EarlyView.
Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron, Laure Salmon, Nicolas Nguyen, Dènahin Toffa, Sami Obaid, Alexis Robin, Dang Khoa Nguyen   +6 more
wiley   +1 more source

Agenesis of corpus callosum

, 2003
This paper presents a case of a sixteen-year-old female patient with agenesis of corpus callosum which was accidentally discovered during etiological investigation of the consciousness disorder.
Smiljana Popovic, Nenad Rajsic, Jasmina Maksic, Dragana Obradovic, Sibin Vladejic, Ranko Raicevic   +5 more
core   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Neonatal‐onset developmental and epileptic encephalopathy: High genetic yield and long‐term outcomes in a multicenter southern European cohort

Epilepsia Open, EarlyView.
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina, Anna Marcé‐Grau, Gianluca D'Onofrio, Antonella Riva, Roser Pons, Elisabeta Kollia E, Miquel Raspall‐Chaure, Eduardo López‐Laso, Javier López‐Pisón, Edgard Verdura, Agatha Schlüter, Dolors Casellas‐Vidal, Maria Camós‐Carreras, Michele Iacomino, Alberto Spalice, Pasquale Parisi, Alejandro Martínez de la Ossa‐Vela, Mónica Vicente‐Rasoamalala, Aurora Pujol, Vincenzo Salpietro, Pasquale Striano, Alfons Macaya   +21 more
wiley   +1 more source

Agenesis of Third Molars in Orthodontic Patients attending Dhulikhel Hospital

Orthodontic Journal of Nepal, 2012
Aims and objective: The aim of this descriptive study was to determine the prevalence of agenesis or congenitally missing third molars in orthodontic patients attending Dhulikhel Hospital.
Chandan Upadhyaya, Bhoj Raj Adhikari, Dashrath Kafle, Manoj Humagain   +3 more
doaj   +1 more source

Liver Agenesis with Omphalocele: A Report of Two Human Embryos Using Serial Histological Sections

, 2014
We identified 2 human embryos, with crown-rump lengths (CRLs) of 22 mm and 23 mm and a gestational age of approximately 7 weeks (O'Rahilly's stage 21-22), with liver agenesis and omphalocele.
Hwang, Si Eun, Murakami, Gen, Cho, Baik Hwan, Rodríguez Vázquez, José Francisco, Kim, Ji Hyun   +4 more
core   +1 more source

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations

Journal of Clinical Laboratory Analysis, EarlyView.
This study combined karyotyping, copy number variation sequencing, and whole‐exome sequencing to assess the value of genetic testing in the prenatal diagnosis of congenital heart disease (CHD) and to evaluate the relationship between genetic variants and prenatal phenotypes.
Jieqiong Xie, Yanru Huang, Xingmei Yao, Lutan Zhang, Yixi Zhou, Wenbo Wang, Jian Zhang, Yunsheng Ge   +7 more
wiley   +1 more source

Ultrasonographic Diagnosis of Finger Flexor Tendon Hypoplasia in a Child with Phalangeal Agenesis

Diagnostics
Agenesis and hypoplasia affecting multiple flexor tendons within the same hand represent an exceedingly uncommon occurrence, with no previous studies addressing this condition.
Cheng-I Chen, Hong-Yi Lin, Wei-Ting Wu, Ke-Vin Chang, Levent Özçakar   +4 more
doaj   +1 more source

Los niños de La Cova de Valdavara (Becerreá, Lugo): Análisis morfológico, patológico y del microdesgaste dental [PDF]

Munibe Antropologia-Arkeologia, 2019
Este artículo presenta un análisis holístico de los restos dentales pertenecientes a tres individuos infantiles del yacimiento de la Edad del Bronce de la Cueva de Valdavara (Becerréa, Lugo), mediante diferentes aproximaciones metodológicas, como es el ...
R. Hernando, M. Lozano, D. Ceperuelo, S. Alonso, M. Vaquero   +4 more
doaj   +1 more source