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1.
J Clin Med ; 13(11)2024 May 30.
Artículo en Inglés | MEDLINE | ID: mdl-38892922

RESUMEN

The demographic profile of patients transitioning from chronic kidney disease to kidney replacement therapy is changing, with a higher prevalence of aging patients with multiple comorbidities such as diabetes mellitus and heart failure. Cardiovascular disease remains the leading cause of mortality in this population, exacerbated by the cardiovascular stress imposed by the HD procedure. The first year after transitioning to hemodialysis is associated with increased risks of hospitalization and mortality, particularly within the first 90-120 days, with greater vulnerability observed among the elderly. Based on data from clinics in Fresenius Medical Care Europe, Middle East, and Africa NephroCare, this review aims to optimize hemodialysis procedures to reduce mortality risk in stable incident and prevalent patients. It addresses critical aspects such as treatment duration, frequency, choice of dialysis membrane, dialysate composition, blood and dialysate flow rates, electrolyte composition, temperature control, target weight management, dialysis adequacy, and additional protocols, with a focus on mitigating prevalent intradialytic complications, particularly intradialytic hypotension prevention.

3.
Am J Kidney Dis ; 83(2): 183-195, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37717846

RESUMEN

RATIONALE & OBJECTIVE: Genetic etiologies have been identified among approximately 10% of adults with chronic kidney disease (CKD). However, data are lacking regarding the prevalence of monogenic etiologies especially among members of minority groups. This study characterized the genetic markers among members of an Israeli minority group with end-stage kidney disease (ESKD). STUDY DESIGN: A national-multicenter cross-sectional study of Israeli Druze patients (an Arabic-speaking Near-Eastern transnational population isolate) who are receiving maintenance dialysis for ESKD. All study participants underwent exome sequencing. SETTING & PARTICIPANTS: We recruited 94 adults with ESKD, comprising 97% of the total 97 Druze individuals throughout Israel being treated with dialysis during the study period. PREDICTORS: Demographics and clinical characteristics of kidney disease. OUTCOME: Genetic markers. ANALYTICAL APPROACH: Whole-exome sequencing and the relationship of markers to clinical phenotypes. RESULTS: We identified genetic etiologies in 17 of 94 participants (18%). None had a previous molecular diagnosis. A novel, population-specific, WDR19 homozygous pathogenic variant (p.Cys293Tyr) was the most common genetic finding. Other monogenic etiologies included PKD1, PKD2, type IV collagen mutations, and monogenic forms of noncommunicable diseases. The pre-exome clinical diagnosis corresponded to the final molecular diagnosis in fewer than half of the participants. LIMITATIONS: This study was limited to Druze individuals, so its generalizability may be limited. CONCLUSIONS: Exome sequencing identified a genetic diagnosis in approximately 18% of Druze individuals with ESKD. These results support conducting genetic analyses in minority populations with high rates of CKD and for whom phenotypic disease specificity may be low. PLAIN-LANGUAGE SUMMARY: Chronic kidney disease (CKD) affects many people worldwide and has multiple genetic causes. However, there is limited information on the prevalence of genetic etiologies, especially among minority populations. Our national-multicenter study focused on Israeli Druze patients. Using exome-sequencing, we identified previously undetected genetic causes in nearly 20% of patients, including a new and population-specific WDR19 homozygous pathogenic variant. This mutation has not been previously described; it is extremely rare globally but is common among the Druze, which highlights the importance of studying minority populations with high rates of CKD. Our findings provide insights into the genetic basis of end-stage kidney disease in the Israeli Druze, expand the WDR19 phenotypic spectrum, and emphasize the potential value of genetic testing in such populations.


Asunto(s)
Fallo Renal Crónico , Insuficiencia Renal Crónica , Adulto , Humanos , Grupos Minoritarios , Israel/epidemiología , Marcadores Genéticos , Estudios Transversales , Fallo Renal Crónico/epidemiología , Fallo Renal Crónico/genética , Fallo Renal Crónico/terapia , Insuficiencia Renal Crónica/epidemiología , Insuficiencia Renal Crónica/genética , Insuficiencia Renal Crónica/diagnóstico , Poblaciones Minoritarias, Vulnerables y Desiguales en Salud
4.
Int Urol Nephrol ; 51(10): 1867-1872, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31264086

RESUMEN

PURPOSE: Peritoneal catheter dysfunction is a frequent complication of peritoneal dialysis (PD). Traditionally, dysfunction has been attributed to catheter malposition, but whether the location of the catheter tip in the small pelvis really determines proper function is unclear. METHODS: We reviewed 900 abdominal X-ray images of PD patients from a 7-year period in two PD units that use different catheter types (straight and Swan Neck Curled). RESULTS: In 52% of the images, the dialysis catheter tip was located in the ideal position in the small pelvis and in 48% in other sites. Peritoneal catheter function was normal at the time of imaging in 87% of those with ideal catheter tip position, and in 74% of those with other than ideal position. The tip was located in small pelvis in 35% of images performed during catheter dysfunction and in 56% of those performed during normal catheter function. There were no differences between two catheter types. The positive predictive value of abdominal X-ray images to predict catheter function was 26%, and the negative predictive value 87%. We also found a significant positive correlation between polycystic kidney disease and normal catheter function. In contrast, obese patients were more likely to have catheter malfunction. Previous abdominal surgery was not associated with catheter dysfunction. CONCLUSION: Our data showed a higher probability of normal function of peritoneal catheters whose tips were located in the small pelvis. However, also malpositioned catheters generally functioned well, and malpositioning of the PD catheter did not in itself explain its malfunction.


Asunto(s)
Cateterismo/métodos , Catéteres de Permanencia , Diálisis Peritoneal/instrumentación , Falla de Equipo , Femenino , Humanos , Masculino , Pelvis/diagnóstico por imagen , Estudios Retrospectivos
6.
Am J Orthop (Belle Mead NJ) ; 34(10): 498-500, 2005 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-16304798

RESUMEN

Compartment syndromes of the upper arm are rare clinical entities but can be a serious problem, especially in unconscious patients or those presenting with altered mental status. A high index of suspicion is needed to make an accurate diagnosis. Measuring compartment pressures is helpful, but the role of pressure measurement in the diagnosis and treatment may be secondary to the clinical examination. In patients presenting without histories of trauma, who have sustained long periods of immobilization, a suspicion of a crush syndrome should also be included during the workup of a compartment syndrome. Fasciotomy and débridement of necrotic and nonviable tissue are the treatments of choice for a patient with a compartment syndrome, but initiating medical management and providing medical stability for systemic complications resulting from a crush syndrome may be necessary prior to surgical intervention to prevent organ failure and death. Overall, prognosis is improved by early diagnosis and treatment.


Asunto(s)
Traumatismos del Brazo/diagnóstico , Traumatismos del Brazo/cirugía , Síndromes Compartimentales/diagnóstico , Síndromes Compartimentales/cirugía , Descompresión Quirúrgica/métodos , Accidentes por Caídas , Accidentes de Tránsito , Enfermedad Aguda , Adulto , Síndrome de Aplastamiento/diagnóstico , Síndrome de Aplastamiento/cirugía , Estudios de Seguimiento , Humanos , Masculino , Complicaciones Posoperatorias , Recuperación de la Función , Medición de Riesgo , Resultado del Tratamiento
7.
Semin Musculoskelet Radiol ; 7(3): 205-16, 2003 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-14593562

RESUMEN

Pigmented villonodular synovitis (PVNS) is a rare, benign, idiopathic proliferative disorder of the synovium that results in villous and/or nodular formation in joints, tendon sheaths, and bursae. The disease can be localized or diffuse. Patients with this condition typically present with symptoms of mild discomfort and associated stiffness of the involved joint; however, the spectrum of presentations is broad. Diagnosis of PVNS can be clinically difficult, and plain radiographs are usually nonspecific. Magnetic resonance (MR) imaging is a highly diagnostic modality in characterizing PVNS when it contains hemosiderin deposits exhibiting low signal intensity on all MR image pulse sequences. This article discusses the presentation, pathology, differential diagnosis, diagnostic modalities as well as various treatment options of PVNS.


Asunto(s)
Imagen por Resonancia Magnética/métodos , Sinovitis Pigmentada Vellonodular/diagnóstico , Artrografía , Diagnóstico Diferencial , Humanos , Cintigrafía , Sinovitis Pigmentada Vellonodular/diagnóstico por imagen , Sinovitis Pigmentada Vellonodular/patología , Tomografía Computarizada por Rayos X , Ultrasonografía
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