Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Alpha-mannosidosis (AM) is an ultrarare multisystemic disorder caused by alpha-mannosidase deficiency. This is the first comprehensive report on AM in Brazil, analyzing clinical and laboratory data from 14 patients diagnosed between 2001 and 2021. We summarize the patient diagnostic journey in the country, including the most common presenting symptoms, the time from disease onset to diagnosis and discuss other disease manifestations. Our findings may improve the disease awareness and understanding in the country.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12018040 | PMC |
| http://dx.doi.org/10.1016/j.ymgmr.2025.101220 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Reflective Verbalization Strategy to Trigger Alternative Diagnostic Hypotheses.
J Eval Clin Pract
September 2025
Department of General Medicine, Osaka Medical and Pharmaceutical University Hospital, Takatsuki, Osaka, Japan.
Rationale: Physicians sometimes encounter various types of gut feelings (GFs) during clinical diagnosis. The type of GF addressed in this paper refers to the intuitive sense that the generated hypothesis might be incorrect. An appropriate diagnosis cannot be obtained unless these GFs are articulated and inventive solutions are devised.
View Article and Find Full Text PDFAssociation of Omeprazole-Related Myopathy With Drug-Drug and Drug-Gene Interactions Involving CYP2C19 and CYP3A4: A Nested Case-Control Study.
Pharmacotherapy
September 2025
Department of Biomedical Informatics, School of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Background: Omeprazole, a widely used proton pump inhibitor, has been associated with rare but serious adverse events such as myopathy. Previous research suggests that concurrent use of omeprazole with fluconazole, a potent cytochrome P450 (CYP) 2C19/3A4 inhibitor, may increase the risk of myopathy. However, the contribution of genetic polymorphisms in CYP enzymes remains unclear.
View Article and Find Full Text PDFEvaluation of potential prognostic significance of JUNB in human prostate cancer: a bioinformatic and histopathological study.
J Pathol Transl Med
September 2025
Department of Biochemistry, Faculty of Pharmacy, Cairo University, Cairo, Egypt.
Background: Prostate cancer is one of the most common malignancies in males worldwide. Serum prostate-specific antigen is a frequently employed biomarker in the diagnosis and risk stratification of prostate cancer; however, it is known for its low predictive accuracy for disease progression. New prognostic biomarkers are needed to distinguish aggressive prostate cancer from low-risk disease.
View Article and Find Full Text PDFComparison of Breast Reconstruction Strategies Using Exclusive Lipofilling or Prosthesis After Total Mastectomy for Breast Cancer: Satisfaction and Morbidity After More Than 2 Years.
Aesthet Surg J
September 2025
Department of Gynecological and Breast Surgery and Oncology, Assistance Publique des Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière University Hospital, Paris, France.
Background: Total mastectomy for breast cancer is an impactful procedure, and breast reconstruction plays a crucial role for women diagnosed with the disease.
Objectives: The objective of our study is to compare satisfaction, morbidity, and timelines of two breast reconstruction techniques after breast cancer: breast prosthesis and exclusive lipofilling.
Methods: This is a comparative, retrospective, unicentric study on patients who underwent total mastectomy between May 2014 and May 2020.
Comparative outcomes of excision and active surveillance for cervical intraepithelial neoplasia 2 in women under 35: a single institutional retrospective study.
Obstet Gynecol Sci
September 2025
Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul, Korea.
Objective: This study aimed to compare the outcomes of excision (conization) and active surveillance in women under 35 years of age diagnosed with cervical intraepithelial neoplasia 2 (CIN 2) on disease regression to normal cervical cytology and the effectiveness of nonsurgical management.
Methods: This retrospective cohort study was conducted at OOO. Women under 35 diagnosed with CIN 2 were included and divided into two groups based on the management strategy: excisional treatment or active surveillance.