Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Autor: Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kaur N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Mascarenhas S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Rao LP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nair KV; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Prasannakumar AP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Chaurasia A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Hunakunti B; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Jadhav N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Farooqui S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Yeole M; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Kothiwale V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Naik R; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat V; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Aroor S; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Lewis L; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Purkayastha J; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhat YR; Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Praveen BK; Department of Pediatrics, Father Muller Medical College Hospital, Mangalore, India., Yatheesha BL; Paediatric neurology, Dheemahi Child Neurology and Development Center, Shimoga, India., Patil SJ; Division of Medical Genetics, Narayana Hrudayalaya Hospitals/Mazumdar-Shaw Medical Center, Bangalore, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India., Kamath N; Department of Paediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, India., Siddiqui S; Department of Neuro and Vascular Interventional Radiology, Yashoda Hospitals, Hyderabad, India., Bielas S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Suma Genomics Private Limited, Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education, Manipal, India.; Department of Genetics, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman., Sharma S; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

Publikováno v: Clinical genetics [Clin Genet] 2024 Jun; Vol. 105 (6), pp. 639-654. Date of Electronic Publication: 2024 Feb 19.

A Rare, yet Classic Case of Colloid Cyst of Third Ventricle

Autor: Hemlata Panwar, Neelkamal Kapoor, Adesh Shrivastava, Praveen Bk, Garima Goel

Publikováno v: Cureus

Colloid cyst of third ventricle is a rare, benign, congenital lesion that usually presents with headache, and associated with altered cognition, nausea, vomiting, gait ataxia, and blurred vision. A large cyst/growing cyst can cause obstructive hydroc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::641a5ef96e693fc2d15bf248123d53f5
https://doi.org/10.7759/cureus.16406

The changes in La Niña induced summertime interannual variability of sea level anomaly along the western boundary of the Bay of Bengal.

Autor: Mukherjee, Arnab¹ (AUTHOR) arnab@ncpor.res.in, Ghosh, Supriyo^1,2 (AUTHOR)

Publikováno v: Ocean Dynamics. Jun2023, Vol. 73 Issue 6, p373-386. 14p.

Hematohidrosis induced by separation anxiety disorder during COVID-19 quarantine: a case report and brief literature review.

Autor: Hao Trong Nguyen¹ bshao312@yahoo.com, Phuong Thi Doan Vo¹, Trinh Thi Diem Nguyen¹, Quynh Truc Nguyen¹, Dao Le Truong¹

Publikováno v: Dermatology Reports. 2023, Vol. 15 Issue 2, p52-56. 5p.

Cardiotocography use for fetal assessment during labor in low- and middle-income countries: A scoping review.

Autor: Takeshita M; Department of Health Informatics, Graduate School of Medicine / School of Public Health, Kyoto University, Kyoto, Japan., Toyomoto R; Department of Health Promotion and Human Behavior, Graduate School of Medicine / School of Public Health, Kyoto University, Kyoto, Japan., Marui K; Department of Health Informatics, Graduate School of Medicine / School of Public Health, Kyoto University, Kyoto, Japan., Ito M; Department of Health Promotion and Human Behavior, Graduate School of Medicine / School of Public Health, Kyoto University, Kyoto, Japan., Eto H; Department of Reproductive Health, Institute of Biomedical Sciences, Nagasaki University, Nagasaki, Japan., Takehara K; Department of Health Policy, Research Institute, National Center for Child Health and Development, Tokyo, Japan., Matsui M; Department of Global Health, Nagasaki University School of Tropical Medicine and Global Health, Nagasaki, Japan.; Department of Public Health, Kobe University Graduate School of Health Sciences, Kobe, Japan.

Publikováno v: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics [Int J Gynaecol Obstet] 2024 Aug; Vol. 166 (2), pp. 580-595. Date of Electronic Publication: 2024 Jan 29.