Results 21 to 30 of about 518,253 (265)

Gaucher's disease in children: Case report from Afghanistan with literature review

Global Pediatrics, 2023
Introduction and importance: Gaucher's disease (GD) or lysosomal storage disease, is one of the rare genetic disorders resulting from glucocerebrosidase deficiency.
Turyalai Hakimi, Omran Omar Amarkhil, Muhammad Arif Zamani, Mansoor Aslamzai, Salmai Turial, Mohammad Tareq Rahimi, Mohammad Anwar Jawed   +6 more
doaj   +1 more source

Development and clinical evaluation of a supramolecular acid-enzyme complex for skin exfoliation, sebum control, and pore refinement

Journal of Dermatologic Science and Cosmetic Technology
Background: Enzyme fragility remains a major challenge in research and applications. Free enzymes are highly unstable, inactivated by heat, acid, alkali, or organic solvents, and often lose activity even under optimal storage conditions.
Huwu Zhou, Wenrong Zhang, Xuewan Li, Rongrong Li, Changzhi Dong, Lifeng Tang   +5 more
doaj   +1 more source

A case of repeated focal motor seizures as expression of an inflammatory cerebral process with suspected dysimmune etiology

Epilepsy & Behavior Reports, 2022
Autoimmune encephalitis (AE) is a condition of severe brain inflammation with a complex differential diagnosis. The identification of a specific neuronal antibody (NA) is not mandatory to diagnose AE.
Giovanni Falcicchio, Giovanni Boero, Teresa Francavilla, Angela M. Alicino, Rossana Sgobio, Maria Trojano, Angela La Neve   +6 more
doaj   +1 more source

Emapalumab for Immune Effector Cell‐Associated Hemophagocytic Lymphohistiocytosis‐Like Syndrome Following CD19‐Directed CAR‐T in Two Patients With B‐ALL: Clinical and Biomarker Correlates

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Immune effector cell‐associated hemophagocytic lymphohistiocytosis‐like syndrome (IEC‐HS) is a life‐threatening hyperinflammatory toxicity distinct from cytokine release syndrome (CRS) and neurotoxicity following chimeric antigen receptor T‐cell (CAR‐T) therapy. In a single‐institution retrospective cohort of pediatric and young adult patients
Thomas J. Galletta, Jeremy D. Rubinstein, Christopher E. Dandoy, Ruby Khoury, Angela Faulhaber, Christine L. Phillips, Christa Krupski   +6 more
wiley   +1 more source

Optimization and purification of L-methioninase enzyme purified from clinical samples of Pseudomonas spp.

مجلة مركز بحوث التقنيات الاحيائية
Background: This study focused on Pseudomonas aeruginosa, which secrete important enzymes in medical and pharmaceutical applications and are isolated from clinical samples. One of these enzymes is L-methioninase, the most desirable enzyme in the medical
Aya S. Aldawood, Ruqaya M. Al-ezzy
doaj   +1 more source

Efficacy and Safety Analysis of Roxarestat in Regulating Renal Anemia in Patients on Maintenance Hemodialysis

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Objective To compare the efficacy and safety of roxarestat versus recombinant human erythropoietin (rhEPO) in the management of renal anemia in patients undergoing maintenance hemodialysis. Methods This was a prospective, open‐label, randomized controlled trial.
Lingling Chen, Junjie Zhu, Qiaonan Ge
wiley   +1 more source

Lysosomal diseases: Overview on current diagnosis and treatment

Genetics and Molecular Biology, 2019
Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function.
Fabiano de Oliveira Poswar, Filippo Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani   +8 more
doaj   +1 more source

Effects of the Fluid Replacement Method During Online Hemodiafiltration on the Solute Removal Performance and Biocompatibility Using the Asymmetric Cellulose Triacetate Membrane

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Pre‐dilution online hemodiafiltration (Pre‐HDF) is predominantly used in Japan, whereas post‐dilution online HDF (Post‐HDF) is more common in Europe. An asymmetric cellulose triacetate (ATA) membrane may improve biocompatibility.
Kenji Sakurai, Yoshitaka Kurihara, Fumi Yamauchi, Hiromi Hosoya, Takeshi Saito   +4 more
wiley   +1 more source

Experience With Performing Rheocarna Therapy via the Single‐Needle Method for Treatment of Chronic Limb‐Threatening Ischemia

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction This study investigated the safety and efficacy of single‐needle Rheocarna therapy for chronic limb‐threatening ischemia (CLTI) with wounds. Methods Six patients with CLTI involving ulcers unresponsive to revascularization underwent single‐needle Rheocarna treatment.
Yasutaka Yamauchi, Rie Tanaka, Reona Kawahira, Shingo Nabeta, Kouhei Naoi, Kazuhito Kitajima, Akira Wada, Tomonari Takagi, Norihiko Ohura, Akira Miyamoto   +9 more
wiley   +1 more source

Gaucher Disease - From Textbook Obscurity to Clinical Reality: A Case Report with Diagnostic and Therapeutic Implications at Moi Teaching and Referral Hospital

Case Reports in Clinical Practice
Gaucher’s disease is a rare lysosomal storage disorder caused by a deficiency of the enzyme β-glucocerebrosidase, leading to progressive accumulation of glucocerebroside within macrophages.
Isaac Osore Ogola, Alice Gichemi, Maureen Mumbua Kiio, Wendy Matendechele, Gilbert Olbara, Festus Muigai   +5 more
doaj   +1 more source