Results 101 to 110 of about 51,344 (275)

Deep Learning‐Assisted Coherent Raman Scattering Microscopy

Advanced Intelligent Discovery, EarlyView.
The analytical capabilities of coherent Raman scattering microscopy are augmented through deep learning integration. This synergistic paradigm improves fundamental performance via denoising, deconvolution, and hyperspectral unmixing. Concurrently, it enhances downstream image analysis including subcellular localization, virtual staining, and clinical ...
Jianlin Liu, Rujia Liu, Xinyan Zhang, Xun Chen, Shuhua Yue   +4 more
wiley   +1 more source

Data-Driven Modeling for Precision Medicine in Pediatric Acute Liver Failure

Molecular Medicine, 2016
The absence of early outcome biomarkers for pediatric acute liver failure (PALF) hinders medical and liver transplant decisions. We sought to define dynamic interactions among circulating inflammatory mediators to gain insights into PALF outcome ...
Ruben Zamora, Yoram Vodovotz, Qi Mi, Derek Barclay, Jinling Yin, Simon Horslen, David Rudnick, Kathleen M Loomes, Robert H Squires   +8 more
doaj   +1 more source

ETIOLOGY FOR LIVER DISEASES IN PEDIATRIC POPULATION

, 2016
Objective: The liver diseases affect both the pediatric and adult populations. In the adult population, the stereotype diagnosis in the Indian populationis targeted toward males due to excessive alcoholic consumption. Nevertheless, the liver diseases can
Roshni Pr, Jismy Karakkattu
core   +1 more source

The Role of the Gut Microbiota in Allogeneic Hematopoietic Cell Transplantation

American Journal of Hematology, EarlyView.
ABSTRACT Allogeneic hematopoietic cell transplantation (allo‐HCT) is an effective treatment for patients with high‐risk hematologic malignancies. Over the last decade, gut microbiota composition during allo‐HCT has been associated with patients' outcomes.
Wenjing Hao, Nicolas Stocker, Béatrice Gaugler, Mohamad Mohty, Florent Malard   +4 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 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

Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India

Gastro Hep Advances
Background and Aims: Wilson's disease (WD) is a disorder of copper metabolism caused by a mutation in the ATP7B gene. We aimed to comprehensively evaluate the clinical and genetic profiles of patients with WD.
Anand V. Kulkarni, Govardhan Bale, Ravikanth Vishnubotla, Anuhya Rambhatla, Mithun Sharma, Swapnali Sabhapandit, Archana Chintam, Manasa Alla, Shantan Venishetty, Sowmya Iyengar, Ravi Babu Komalla, Sumana Kolar Ramachandran, Balachandran Menon, Rakesh Kalapala, Rajesh Gupta, Padaki Nagaraj Rao, Duvvur Nageshwar Reddy, Michael L. Schilsky, K.Rajender Reddy   +18 more
doaj   +1 more source

Pediatric liver transplantation: A report from a pediatric surgical unit

Journal of Indian Association of Pediatric Surgeons, 2011
Background: Liver transplantation is well established worldwide as an effective treatment for end-stage liver disease in children. Acceptance in India has been slow because of considerations of cost, infections, inability to support long-term care, and ...
Sanjay Rao, Ashley L. J. D′Cruz, Rajiv Aggarwal, Supraja Chandrashekar, G Chetan, Gayathri Gopalakrishnan, Stephen Dunn   +6 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Adeno-Associated Virus Type 2 and Human Adenovirus Species F Type 41 Co-infection Associated with Acute Severe Hepatitis in Children, California, USA

Emerging Infectious Diseases
Since late 2021, clusters of acute severe hepatitis of unknown etiology in previously healthy children, including some requiring liver transplantation, have been reported worldwide.
Ran Zhuo, Colette J. Matysiak Match, Sanchi Malhotra, Huan Vinh Dong, Kristina Adachi, Robert S. Venick, Grace Aldrovandi, Shangxin Yang   +7 more
doaj   +1 more source