Results 31 to 40 of about 44,988 (225)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

A Rare and Intriguing Case of Wilson's Disease Initially Suspected of Systemic Lupus Erythematosus

Clinical Case Reports
When systematic lupus erythematosus‐like lab results (e.g., positive anti‐double‐stranded DNA antibody, low complement component 3) are inconsistent with physical findings, such as the absence of arthritis or nephritis, clinicians should consider ...
Mandana Khodashahi, Najmeh Mohajeri, Moeid Reza Alipour, Reza Khademi, Nama Mohamadian Roshan, Behzad Aminzadeh, Muhammed Joghatayi   +6 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Prevalence of Gaucher’s Disease in a Hematology Outpatient Clinic

Journal of Contemporary Medicine, 2020
Objective: Gaucher’s disease (GD) is a disease caused by glucocerebrosidase enzyme deficiency and characterized by glucoceramide accumulation in the reticuloendothelial system.
Didar Yanardağ Açık, Bilal Aygun
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Ultrasound assessment of hepatomegaly and metabolically-associated fatty liver disease among a sample of children: a pilot project

Frontiers in Pediatrics
IntroductionObesity in children is a global health crisis, with 46% of children in Puerto Rico classified as overweight or obese based on Body Mass Index.
Bárbara L. Riestra-Candelaria, Wilma Rodríguez-Mojica, Camille Vélez-Morell, Claudia Ramírez-Marcano, Ariana Alvarado-Castillo, Gabriel Camareno-Soto, Loida A. González-Rodríguez   +6 more
doaj   +1 more source

Bioengineered Exosome‐Loaded Immunomodulatory Bioadhesive Spray Reverses Liver Fibrosis and Metabolic Dysfunction That Triggers Beneficial Gut‐Liver Crosstalk in Chronic Fatty Liver Disease

Advanced Science, EarlyView.
Umbilical cord stem cell‐derived exosomes encapsulated in an immunomodulatory bioadhesive hydrogel spray enable localized therapy, sustained vesicle delivery, macrophage polarization, suppress systemic inflammation, and mitigate glucose and insulin homeostasis impairments in MAFLD.
Triya Saha, Ayushi Mairal, Shreya Mehrotra, Shiv K. Sarin, Ashok Kumar   +4 more
wiley   +1 more source

Mauriac syndrome: a rare complication in patients with type 1 diabetes mellitus

Endocrinology, Diabetes & Metabolism Case Reports
Mauriac syndrome is a rare complication in patients with type 1 diabetes. It presents with poor glycemic control and hepatomegaly due to extensive liver glycogen deposition.
João Oliveira Torres, Diana Cruz Martins, Alexandra Abegão Matias, Nuno Gião, Eduardo Dutra, Rui Malheiro, Milena Mendes, José Silva-Nunes   +7 more
doaj   +1 more source

Optimized Lipid Nanoparticles with Tail‐Modified Ionizable Lipids for Safer mRNA Delivery

Advanced Science, EarlyView.
Systematic engineering of hydrophobic tail architecture in vitamin B5‐derived ionizable lipids establishes a comprehensive structure–activity relationship framework for mRNA delivery. Combined lipidtail and formulation optimization identifies TM1‐OPT3‐C, a lipid nanoparticle platform that improves efficacy–safety balance through efficient mRNA delivery,
Seo‐Hyeon Bae, Jisun Lee, Jae‐Hun Ahn, Hosam Choi, Huijeong Choi, Jungmin Kim, Minho Kang, Ho Rim Oh, So Hyun Park, Eun Young Oh, Sanghyuk Jeon, Yeeun Lee, Yu‐Sun Lee, Na‐Young Lee, Hee‐Jin Bae, Jina Kwak, Jooil Kim, Nakyung Lee, Beomsun Kang, Ji‐Hye Kim, Eunsaem Song, Daesub Song, Hyunho Yoon, Sang‐Myeong Lee, Hyewon Youn, Kiyoun Lee, Byeong‐Cheol Kang, Jae‐Hwan Nam   +27 more
wiley   +1 more source

Clinical and ultrasonographic investigations of 30 water buffaloes (Bubalus bubalis) with hepatomegaly [PDF]

Veterinary World, 2019
Background and Aim: Knowledge of normal ultrasonographic dimensions of the liver and associated vascular structures is an important indicator for the diagnosis of hepatic diseases.
A. M. Abdelaal, M. Abd El Raouf, M. A. Aref, A. A. Moselhy   +3 more
doaj   +1 more source