Results 111 to 120 of about 60,403 (253)

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

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

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

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

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

Some clinical and humoral aspects of liver failure in children and adolescents

Medisan, 2020
Introduction: The acute liver failure is an entity of multifactorial origin that is presented in previously healthy children and has direct repercussion in the synthesis, clotting and purification functions.
Pablo Antonio Hernández Dinza, Elizabeth Aurora Cabrera Cabrales, Rosario Guerra Cosme, Marlen Quesada Castillo, Aloima Reifes Martén   +4 more
doaj  

Critical Care Ultrasonography and Its Application for COVID-19 [PDF]

, 2020
Ultrasound has developed as an invaluable tool in diagnosis and proper management in the intensive care unit (ICU). Application of critical care ultrasonography is quite distinct from the routine comprehensive diagnostic ultrasound exam, because the ...
Chong, MD, Weelic, Hai, MD, Yang, Liu, MD, Ji-Bin, Liu, MD, Xi, Ma, MD, Bin   +4 more
core   +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

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source