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1.
BMC Nephrol ; 25(1): 185, 2024 May 30.
Artículo en Inglés | MEDLINE | ID: mdl-38816682

RESUMEN

BACKGROUND: Protein carbamylation, a post-translational protein modification primarily driven by urea, independently associates with adverse clinical outcomes in patients with CKD. Biomarkers used to quantify carbamylation burden have mainly included carbamylated albumin (C-Alb) and homocitrulline (HCit, carbamylated lysine). In this study, we aimed to compare the prognostic utility of these two markers in order to facilitate comparisons of existing studies employing either marker alone, and to inform future carbamylation studies. METHODS: Both serum C-Alb and free HCit levels were assayed from the same timepoint in 1632 individuals with CKD stages 2-4 enrolled in the prospective Chronic Renal Insufficiency Cohort (CRIC) study. Adjusted Cox proportional hazard models were used to assess risks for the outcomes of death (primary) and end stage kidney disease (ESKD) using each marker. C-statistics, net reclassification improvement, and integrated discrimination improvement were used to compare the prognostic value of each marker. RESULTS: Participant demographics included mean (SD) age 59 (11) years; 702 (43%) females; 700 (43%) white. C-Alb and HCit levels were positively correlated with one another (Pearson correlation coefficient 0.64). Higher C-Alb and HCit levels showed similar increased risk of death (e.g., the adjusted hazard ratio [HR] for death in the 4th carbamylation quartile compared to the 1st was 1.90 (95% confidence interval [CI] 1.35-2.66) for C-Alb, and 1.89 [1.27-2.81] for HCit; and on a continuous scale, the adjusted HR for death using C-Alb was 1.24 [1.11 to 1.39] per standard deviation increase, and 1.27 [1.10-1.46] using HCit). Both biomarkers also had similar HRs for ESKD. The C-statistics were similar when adding each carbamylation biomarker to base models (e.g., for mortality models, the C-statistic was 0.725 [0.707-0.743] with C-Alb and 0.725 [0.707-0.743] with HCit, both compared to a base model 0.723). Similarities were also observed for the net reclassification improvement and integrated discrimination improvement metrics. CONCLUSIONS: C-Alb and HCit had similar performance across multiple prognostic assessments. The markers appear readily comparable in CKD epidemiological studies.


Asunto(s)
Biomarcadores , Citrulina , Carbamilación de Proteína , Insuficiencia Renal Crónica , Humanos , Femenino , Citrulina/análogos & derivados , Citrulina/sangre , Masculino , Biomarcadores/sangre , Persona de Mediana Edad , Insuficiencia Renal Crónica/sangre , Anciano , Estudios Prospectivos , Medición de Riesgo , Fallo Renal Crónico/sangre , Pronóstico , Modelos de Riesgos Proporcionales , Albúmina Sérica/metabolismo
2.
J Orthop Case Rep ; 14(9): 116-124, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39253671

RESUMEN

Introduction: The incidence of chondrosarcomas is relatively high as it comes second to multiple myeloma as the most common primary malignant bony neoplasms in adults. They tend to occur mostly in the axial skeleton. Hence, they rarely develop in the proximal humerus. Although imaging can aid in the diagnosis of chondrosarcoma, histopathology is the cornerstone that correlates with prognosis and guides us toward the most appropriate treatment modality. Surgical treatment is the best option for chondrosarcomas as most of them are resistant to chemotherapy and radiotherapy. It is really challenging to settle on one surgical technique for proximal humerus chondrosarcomas as surgeons must balance between saving the patient from the oncological process and maintaining a good function of the shoulder joint. Case Report: We present herein a rare case, the first in Lebanon, of chondrosarcoma hitting the left proximal humerus of a 62-year-old lady successfully managed by operative resection and reconstruction with a cemented shoulder hemiarthroplasty using the Modular Universal Tumor and Revision System (MUTARS®) system. Conclusion: Chondrosarcomas are relatively rare. Their resistance to chemotherapy and radiation therapy in addition to their proximal humerus localization is troublesome for both the patient and the surgeon. Hence, a relatively new technique (first in Lebanon and the Middle East), the MUTARS shoulder hemiarthroplasty is found to have promising results on terms of morbidity and mortality for the patient when indicated and properly done.

3.
Front Pediatr ; 12: 1420684, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38919843

RESUMEN

Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by retinitis pigmentosa, polydactyly, type 2 diabetes mellitus, and obesity. This case report presents a 19-year-old male from Palestine with BBS, exhibiting delayed diagnosis and variable phenotypic expression. The patient had familial BBS history and presented with obesity, type 2 diabetes mellitus, retinitis pigmentosa, and cryptorchidism. Genetic analysis identified heterozygous missense variants in the FBN3 gene, yet additional genetic factors may contribute to the phenotype. Renal abnormalities included kidney shrinkage and mild hydronephrosis. Management of this patient involves a multidisciplinary approach with lifestyle modifications, surgical interventions, and supportive care. Early diagnosis, genetic counseling, and regular follow-up are crucial for improving outcomes in BBS. This report highlights diagnostic and therapeutic challenges and underscores the need for further research on this complex disorder.

4.
Microbiol Resour Announc ; 12(10): e0035123, 2023 Oct 19.
Artículo en Inglés | MEDLINE | ID: mdl-37787537

RESUMEN

This manuscript reports the complete genome sequence of a Salmonella enterica subsp. enterica serovar Typhimurium strain (designated "Bnaya"), isolated from a dead dairy calf with severe diarrhea in Israel. The isolate exhibited multi-drug resistance, which is highly unusual in bovine Salmonella spp. in Israel, prompting further investigation.

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