Results 71 to 80 of about 1,567 (165)

Thyroid Cancer: Pathogenesis, Clinicopathology, Diagnosis, and Management

MedComm, Volume 6, Issue 11, November 2025.
Thyroid cancer risk is influenced by both genetic and modifiable factors, including mutations, radiation exposure, lifestyle, and pre‐existing benign conditions. Diagnosis involves physical exams, ultrasound, scintigraphy, laboratory tests, and fine‐needle aspiration biopsy (FNAB).
Yu‐Dong Li, Qing‐Yao Ye, Yan‐Xing Chen, Xia‐Rong Hu   +3 more
wiley   +1 more source

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

BMC Nephrology, 2017
Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito   +5 more
doaj   +1 more source

Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis

BMC Medical Genetics, 2020
Background In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive diseases.
Mouna Ouhenach, Abdelali Zrhidri, Imane Cherkaoui Jaouad, Wiam Smaili, Abdelaziz Sefiani   +4 more
doaj   +1 more source

Non‐Random Distribution of EMS‐Induced Mutations Reveals Preference for Open Chromatin and Expressed Genes in Rice

Advanced Science, Volume 12, Issue 39, October 20, 2025.
Mutagenesis is an effective method for generating genetic resources with a long history in breeding; however, the randomness of chemical‐induced mutations has not been systematically investigated. In this study, over 7 million SNPms are identified in an EMS‐induced population, revealing that these mutations are non‐randomly distributed and ...
Xue‐Feng Yao, Yanhong Liu, Zhiyong Li, Guo‐Qiang Jiang, Wensheng Wang, Hong Lu, Huihui Li, Zefu Lu, Chun‐Ming Liu   +8 more
wiley   +1 more source

Acute Myocardial Infarction: Molecular Pathogenesis, Diagnosis, and Clinical Management

MedComm, Volume 6, Issue 10, October 2025.
Key pathogenic mechanisms in AMI. Oxidative stress and mitochondrial dysfunction induce ROS accumulation, while DAMPs‐PRRs interaction triggers inflammatory cascades. Programmed cell death pathways and epigenetic regulation collectively constitute the core components of AMI pathogenesis.
Mengmeng Zhu, Yiwen Li, Qian Xu, Wenting Wang, Yanfei Liu, Yue Liu   +5 more
wiley   +1 more source

Measurable residual disease‐guided therapy in acute myeloid leukaemia: Practical insights

British Journal of Haematology, Volume 207, Issue 4, Page 1192-1212, October 2025.
Summary Measurable residual disease (MRD) is a prognostic marker in patients with acute myeloid leukaemia (AML). This review examines the role of MRD assessment in guiding treatment strategies. We evaluate key questions, such as the prognostic power of MRD in specific genetic subgroups of AML, the optimal pre‐emptive approach for MRD persistence or ...
Boaz Nachmias, Arnon Haran, Meira Yisraeli Salman, Eytan M. Stein   +3 more
wiley   +1 more source

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study

Annals of the Child Neurology Society, Volume 3, Issue 3, Page 176-187, September 2025.
ABSTRACT Importance Leukodystrophies are a diverse group of rare disorders that disrupt central myelination. These disorders present with a broad spectrum of neurological severity and are associated with a range of potential secondary complications, such as scoliosis and failure of independent feeding.
Emma R. Kotes, Sarah Woidill, Russell D'Aiello, Amina Khan, Jacob McCann, Mark Ramos, Francesco Gavazzi, Stephanie Keller, Keith Van Haren, Ali Fatemi, Florian Eichler, Joshua Bonkowsky, Jamie Fraser, Lisa Emrick, Omar Sherbini, Ashley Hackett, Jeilo Gauna, Dandre Amos, Jordan Goodman, Amena Smith Fine, Amanda Nagy, Seungil Lee, Nicole Page, Johanna Schmidt, Amy Pizzino, Kayla Muirhead, Mariko Bennett, Amy Waldman, Justine Shults, Laura Adang, Robert Grundmeier, Adeline Vanderver   +31 more
wiley   +1 more source

Molecular based newborn screening in Germany: Follow-up for cystinosis

Molecular Genetics and Metabolism Reports, 2019
Background: Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far.
Katharina Hohenfellner, Carsten Bergmann, Tobias Fleige, Nils Janzen, Siegfried Burggraf, Bernd Olgemöller, William A. Gahl, Ludwig Czibere, Sonja Froschauer, Wulf Röschinger, Katharina Vill, Erik Harms, Uta Nennstiel   +12 more
doaj   +1 more source

Evaluating the Genotoxicity and Mutagenicity of Food Contaminants: Acrylamide, Penitrem A, and 3‐Acetyldeoxynivalenol in Individual and Combined Exposure In Vitro

Journal of Applied Toxicology, Volume 45, Issue 9, Page 1750-1760, September 2025.
ABSTRACT This study aimed to evaluate the genotoxic effects of food contaminants exposure in human neuroblastoma SH‐SY5Y cells using the micronucleus (MN) assay and Ames test. Acrylamide (AA), penitrem A (PEN A), and 3‐acetyldeoxynivalenol (3‐ADON) were tested both individually and in combination.
Luna Bridgeman, Cristina Juan, Houda Berrada, Isabelle Severin, Ana Juan‐García   +4 more
wiley   +1 more source

Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation

Indian Journal of Pathology and Microbiology, 2019
Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai, Shibu Jacob, Mandeep S Bindra, Vinoi George David, Santosh Varughese   +4 more
doaj   +1 more source