Hasil untuk "Diseases of the genitourinary system. Urology"

C. Marras, J. Beck, J. Bower et al.

Estimates of the prevalence of Parkinson’s disease in North America have varied widely and many estimates are based on small numbers of cases and from small regional subpopulations. We sought to estimate the prevalence of Parkinson’s disease in North America by combining data from a multi-study sampling strategy in diverse geographic regions and/or data sources. Five separate cohort studies in California (2), Minnesota (1), Hawaii USA (1), and Ontario, Canada (1) estimated the prevalence of PD from health-care records (3), active ascertainment through facilities, large group, and neurology practices (1), and longitudinal follow-up of a population cohort (1). US Medicare program data provided complementary estimates for the corresponding regions. Using our age- and sex-specific meta-estimates from California, Minnesota, and Ontario and the US population structure from 2010, we estimate the overall prevalence of PD among those aged ≥45 years to be 572 per 100,000 (95% confidence interval 537–614) that there were 680,000 individuals in the US aged ≥45 years with PD in 2010 and that that number will rise to approximately 930,000 in 2020 and 1,238,000 in 2030 based on the US Census Bureau population projections. Regional variations in prevalence were also observed in both the project results and the Medicare-based calculations with which they were compared. The estimates generated by the Hawaiian study were lower across age categories. These estimates can guide health-care planning but should be considered minimum estimates. Some heterogeneity exists that remains to be understood. A large study that combines data from five different projects in four different regions across North America provides an updated estimate of the prevalence of Parkinson’s disease (PD). Connie Marras at Toronto Western Hospital in Canada and colleagues found that PD prevalence among individuals over 45 years of age is higher among men than women and that it increases with age in both sexes. They estimate that the overall prevalence of PD is 572 per 100,000 and that in the US in 2010 there were 680,000 individuals with PD. As life expectancy increases this number is projected to increase to over one million by 2030. These figures, which the authors note should be considered minimum prevalence estimates, warn of the impact that PD will have on North America’s healthcare systems in the near future.

A. Sisó-Almirall, P. Brito-Zerón, Laura Conangla Ferrín et al.

Long COVID-19 may be defined as patients who, four weeks after the diagnosis of SARS-Cov-2 infection, continue to have signs and symptoms not explainable by other causes. The estimated frequency is around 10% and signs and symptoms may last for months. The main long-term manifestations observed in other coronaviruses (Severe Acute Respiratory Syndrome (SARS), Middle East respiratory syndrome (MERS)) are very similar to and have clear clinical parallels with SARS-CoV-2: mainly respiratory, musculoskeletal, and neuropsychiatric. The growing number of patients worldwide will have an impact on health systems. Therefore, the main objective of these clinical practice guidelines is to identify patients with signs and symptoms of long COVID-19 in primary care through a protocolized diagnostic process that studies possible etiologies and establishes an accurate differential diagnosis. The guidelines have been developed pragmatically by compiling the few studies published so far on long COVID-19, editorials and expert opinions, press releases, and the authors’ clinical experience. Patients with long COVID-19 should be managed using structured primary care visits based on the time from diagnosis of SARS-CoV-2 infection. Based on the current limited evidence, disease management of long COVID-19 signs and symptoms will require a holistic, longitudinal follow up in primary care, multidisciplinary rehabilitation services, and the empowerment of affected patient groups.

Vision Loss Expert Group of the Global Burden of Disease , the GBD 2019 Blindness and Vision Impairment Collabora

ABSTRACT Purpose To assess burden of blindness and visual impairment (VI) in Sub-Saharan Africa (SSA) as of 2020, the planned end point of the Vision 2020 program. Methods A systematic review and meta-analysis assessed burden, in the better eye, of blindness (presenting distance visual acuity, VA < 3/60), moderate and severe vision impairment (MSVI; VA < 6/18 but ≥ 3/60) and mild vision impairment (VA < 6/12 and ≥ 6/18); and also functional presbyopia (<N6 or N8 in the presence of ≥ 6/12 best-corrected distance visual acuity) in SSA. Results In 2020, an estimated 5,083,000 people (95%Uncertainty Interval, UI, 4,474,000–5,696,000) in SSA were bilaterally blind; 20442,000 more (95%UI 18,568,000–22,430,000) had MSVI. The age-standardized prevalence of blindness in SSA is the highest for any GBD super-region, nearly double the world average (0.99%, 95%UI, 0.85–1.12; vs 0.52%, 95% UI, 0.46–0.59 respectively). The Western (4.15%) and Eastern (3.79%) SSA sub-regions had the highest age-standardized prevalence of blindness for the 50+ age group amongst SSA sub-regions. Improvement in age-specific prevalence since 2000 was less than the Vision 2020 target (−25%) for all subcategories of VI; improvement in blindness was the only category close to the goal (about 80–100% of goal across SSA sub-regions). Conclusions The SSA age-specific prevalence of VI has generally improved since 2000, especially for blindness. However, the number of VI cases has increased with population growth and aging, and Vision 2020 targets were not met. Because most causes of VI require individual-level clinical care, large increases in training and eye care delivery systems development/financing are critical areas of focus.

G.O.L. Ochoa Leon, R. Carvajal García, J.N. Sayeg Lozano et al.

Seungsoo Lee, Dan Bee Lee, Hyun Jung Lee et al.

Primary localized amyloidosis confined to the urinary tract is uncommon and frequently misinterpreted due to clinical and radiologic overlap with more prevalent conditions. We describe a 69-year-old woman who experienced recurrent gross hematuria over 2 years and underwent initial transurethral resection based on a presumptive diagnosis of chronic cystitis. Subsequent evaluation revealed a left ureteral mass with hydronephrosis, raising concern for malignancy. Histopathologic examination of both bladder and ureteral specimens demonstrated amorphous eosinophilic deposits that stained positive with Congo red and showed apple-green birefringence under polarized microscopy. Immunofluorescence confirmed λ-light-chain predominance, establishing AL (amyloid light chain)-type amyloidosis without systemic involvement. The patient underwent complete endoscopic resection and remains asymptomatic during ongoing surveillance. This case highlights the diagnostic challenges posed by localized urinary amyloidosis and underscores the importance of histologic confirmation in atypical inflammatory lesions.

Mariza Fevereiro-Martins, A. C. Santos, Carlos Marques-Neves et al.

Retinal neurodevelopment, vascularization, homeostasis, and stress response are influenced by factors such as nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), tyrosine hydroxylase (TH), and erythropoietin (EPO). As retinopathy of prematurity (ROP) is a neurovascular retinal disease, this study analyzed the contributions of NGF (rs6330), BDNF (rs7934165), TH (rs10770141), and EPO (rs507392) genetic functional polymorphisms to the modulation of hematological and biochemical parameters of the first week of life and their association with ROP development. A multicenter cohort of 396 preterm infants (gestational age < 32 weeks or birth weight < 1500 g) was genotyped using MicroChip DNA and iPlex MassARRAY® platform. Multivariate regression followed univariate assessment of ROP risk factors. NGF (GG) genotype was associated with a higher ROP risk (OR = 1.79), which increased further (OR = 2.38) when epistatic interactions with TH (allele C) and BDNF (allele G) were present. Significant circulating biomarker differences, including bilirubin, erythrocytes, monocytes, neutrophils, lymphocytes, and platelet markers, were found between ROP and non-ROP groups, with variations depending on the polymorphism. These findings suggest that NGF (rs6330) and its interactions with related genes contribute to ROP risk, providing valuable insights into the genetic and biological mechanisms underlying the disease and identifying potential predictive biomarkers.

Ibrahim Eker, Hamide Nur Çevik Özdemir, F. Yılmaz et al.

Objective Preimplantation genetic diagnosis (PGD) with human leukocyte antigen (HLA) typing represents a significant advancement in treating inherited hematological disorders, particularly thalassemia major. This technology enables the birth of healthy children who can serve as compatible stem cell donors for their affected siblings. Türkiye is a world leader in both PGD+HLA typing technology and hematopoietic stem cell transplantation (HSCT) from savior siblings born through PGD+HLA typing. This study investigated the experiences of Turkish parents who underwent successful savior sibling procedures using PGD+HLA typing and then successful HSCT from the savior sibling for the treatment of the child with thalassemia major. We aimed to understand the medical, psychological, and sociocultural dimensions of this complex process within the Turkish healthcare context. Materials and Methods A qualitative study was undertaken using a descriptive phenomenological approach. In-depth interviews were conducted with parents from 16 families who had successfully completed PGD+HLA matching and subsequent stem cell transplantation processes from the savior sibling to the child with thalassemia. Data were analyzed using Colaizzi’s seven-step method and MAXQDA 20.0 software. Results The analysis revealed six main themes: disease stage, treatment, recovery process, social/family, support systems, and recommendations. Parents reported significant emotional challenges but demonstrated unexpected resilience. Religious and cultural factors played nuanced roles, with most parents viewing the process as compatible with their beliefs. Economic burdens, prolonged hospitalizations, and geographical access to treatment centers emerged as key challenges. Extended family support and professional healthcare guidance were identified as crucial support mechanisms. Conclusion This study highlights the complex interplay between advanced medical technologies and traditional values in Turkish society. The findings emphasize the need for comprehensive and culturally sensitive support systems and long-term follow-up for families. The results suggest the value of implementing multidisciplinary care teams and developing specialized support programs for families undergoing savior sibling procedures.

Steven, Nur Rasyid, Ponco Birowo et al.

Abstract Background Corpus cavernosum abscess is an uncommonly described urological condition. We report a case of bilateral corpus cavernosum abscess in a 49-year-old man with a history of the left scrotal abscess. Case presentation A 49-year-old man was present with 10 days history of painful and swollen penis. He had a history of an abscess in the left scrotum. The examination revealed non-erythematous palpable edema and tenderness on the shaft of the penis. Laboratory results showed leukocytosis. He was diagnosed with bilateral corpus cavernosum abscess and right testicular hypotrophy after an MRI examination. He underwent a bilateral corporotomy, debridement with Mulcahy salvage solution, and placement of a Penrose drain. Discussion A penile abscess can be caused by a variety of factors. Treatment includes intravenous antibiotics, radiologically guided needle aspiration, or open surgical drainage. Conclusion In addition to antibiotic treatment, surgical debridement is required for the majority of penile abscess cases.

Jinlan Liu, Yi Zhang, Lixing Dai

Objectives Diabetic nephropathy (DN) is one of the most common and serious complications of diabetes. The purpose of this study was to explore the relationship between serum microRNA-338-3p (miR-338-3p) and miR-105-3p and bone metabolic markers in patients with DN at different stages.Methods A total of 153 patients diagnosed and treated in the Department of Nephrology from July 2020 to October 2021 were selected as the study objects. According to the staging criteria of diabetic nephropathy and 24-h urinary albumin quantitative level, the patients were divided into control group (35 cases), microalbuminuria group (37 cases), clinical stage albuminuria group (27 cases) and renal failure group (54 cases). Gene expressions were measured by real-time fluorescence quantitative PCR. The correlation was analyzed by Spearman. Serum miR-338-3p and miR-150-5p in the prediction of renal failure in DN was analyzed by ROC curve.Results The levels of urinary albumin and serum creatinine were markedly increased with the increase of DN stage (p < 0.05). Compared with the microalbuminuria group, the expression levels of serum miR-383-3p, serum miR-105-3p, 25(OH)-D, BGP and PINP were obviously decreased, but the expression of parathyroid hormone (PTH) and type I collagen (β-CTX) was largely increased in clinical proteinuria group (p < 0.05). Compared with the clinical proteinuria group, the expression levels of serum miR-383-3p, serum miR-105-3p, 25(OH)-D, BGP and PINP were largely decreased, but the expression of PTH and β-CTX was obviously increased in the renal failure group (p < 0.05). Spearman correlation results showed that serum expressions of miR-383-3p and miR-105-3p were negatively correlated with PTH and β-CTX, and positively correlated with 25(OH)-D, BGP and PINP (p < 0.05). ROC curve analysis showed that the AUC of serum miR-338-3p and miR-150-5p was 0.896 with the specificity and sensitivity of 96.66% and 73.47%, which had certain predictive value for the occurrence of renal failure in DN.Conclusions The expression levels of serum miR-383-3p and miR-105-3p were significantly correlated with bone metabolism markers. The combined test can provide new ideas and insights for the clinical treatment of osteoporosis in DN.

T. Torres, P. Filipe, F. Menezes Brandão et al.

INTRODUCTION Psoriasis is a common, chronic, and inflammatory skin disorder with a high personal, social and economic burden and important implications for healthcare systems. The aim of this study was to provide an epidemiological characterization of individuals with psoriasis in Portugal. MATERIAL AND METHODS A large observational, cross-sectional, nationwide, population-based survey study developed by the Portuguese Psoriasis Group of the Portuguese Society of Dermatology and Venereology (GPP-SPDV). A structured questionnaire was designed and applied by experienced interviewers to a random, representative sample of Portuguese individuals with psoriasis and/or psoriatic arthritis. Patients were considered to have psoriasis if they replied positively to one of the following questions: "Does any physician have ever diagnosed you with psoriasis?" or "Do you have a skin disorder characterized by scaling, reddish skin lesions located in the elbows/knees/scalp?". RESULTS A total of 6381 individuals were interviewed, of which 283 met the criteria for psoriasis, corresponding to a prevalence rate of 4.4% (95% CI 3.95 - 4.98). Out of the participants that met psoriasis criteria, 24% had suggestive signs/symptoms but did not have a clinical diagnosis established and were not being monitored by a physician. Although more than 70% of participants had active disease (scaling, erythema, or pruritus) and one third had joint symptoms, only 12% were on systemic treatment. Fifty percent of participants with psoriasis (n = 139) had relevant comorbidities (most frequently depression/anxiety and cardiometabolic diseases). Sixteen percent of participants with psoriasis (n = 46) reported that psoriasis interfered with their daily activities (median impact of 5 in a 0 - 10 scale) and 12% mentioned the disease had an impact in their sexual life (median impact of 5 in a 0 - 10 scale). CONCLUSION The results of this study suggest that the prevalence rate of psoriasis is likely to be high in Portugal, and several gaps exist at different levels of healthcare delivery to these patients, from diagnosis to treatment. This study provides important data for the future planning of interventions targeting the improvement of psoriasis care in Portugal.

D. Yelin, I. Margalit, M. Nehme et al.

Background: Long COVID has become a burden on healthcare systems worldwide. Research into the etiology and risk factors has been impeded by observing all diverse manifestations as part of a single entity. We aimed to determine patterns of symptoms in convalescing COVID-19 patients. Methods: Symptomatic patients were recruited from four countries. Data were collected regarding demographics, comorbidities, acute disease and persistent symptoms. Factor analysis was performed to elucidate symptom patterns. Associations of the patterns with patients’ characteristics, features of acute disease and effect on daily life were sought. Results: We included 1027 symptomatic post-COVID individuals in the analysis. The majority of participants were graded as having a non-severe acute COVID-19 (N = 763, 74.3%). We identified six patterns of symptoms: cognitive, pain-syndrome, pulmonary, cardiac, anosmia-dysgeusia and headache. The cognitive pattern was the major symptoms pattern, explaining 26.2% of the variance; the other patterns each explained 6.5–9.5% of the variance. The cognitive pattern was higher in patients who were outpatients during the acute disease. The pain-syndrome pattern was associated with acute disease severity, higher in women and increased with age. The pulmonary pattern was associated with prior lung disease and severe acute disease. Only two of the patterns (cognitive and cardiac) were associated with failure to return to pre-COVID occupational and physical activity status. Conclusion: Long COVID diverse symptoms can be grouped into six unique patterns. Using these patterns in future research may improve our understanding of pathophysiology and risk factors of persistent COVID, provide homogenous terminology for clinical research, and direct therapeutic interventions.

Joe Strong, Ernestina Coast, Emily Freeman et al.

C. Preston, M. W. Wright, Rao Madhavrao et al.

Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible comprehensive curation tools necessary for analyzing an individual patient genome and interpreting genetic variants to inform healthcare management have been lacking. Here we present the ClinGen Variant Curation Interface (VCI), a global open-source variant classification platform for supporting the application of evidence criteria and classification of variants based on the ACMG/AMP variant classification guidelines. The VCI is among a suite of tools developed by the NIH-funded Clinical Genome Resource (ClinGen) Consortium and supports an FDA-recognized human variant curation process. Essential to this is the ability to enable collaboration and peer review across ClinGen Expert Panels supporting users in comprehensively identifying, annotating, and sharing relevant evidence while making variant pathogenicity assertions. To facilitate evidence-based improvements in human variant classification, the VCI is publicly available to the genomics community. Navigation workflows support users providing guidance to comprehensively apply the ACMG/AMP evidence criteria and document provenance for asserting variant classifications. The VCI offers a central platform for clinical variant classification that fills a gap in the learning healthcare system, facilitates widespread adoption of standards for clinical curation, and is available at https://curation.clinicalgenome.org

G. Rosiello, N. Fossati, G. Gandaglia et al.

Richard J. Paulson, M.D., M.S.

Aves Editorial Aves Editorial

Abstract Introduction: Lower urinary tract symptoms (LUTS) associated with BPH and erectile dysfunction (ED) are common problems in aging male. In this study, we aimed to determine the causes of the relationship between LUTS and ED, and the possible effects of body mass index (BMI), serum leptin, free testosterone (fT) and lipid levels on LUTS and ED etiology. Materials and Methods: Between June 2003 and February 2004, 46 patients were recruited in this study. All patients underwent physical examination including digital rectal examination, urine analysis, uroflowmetry and residual urine volume assessment. Serum leptin, lipid and free testosterone levels were analyzed. All patients’ BMI were determined. Thirty-three patients received alpha blocker treatment and 13 patients were in the watchful waiting group. Erectile capacity and voiding symptoms of the patients were analyzed with International Index of Erectile Function (IIEF-5), International Prostate Symptom Score (IPSS), respectively before and after alpha blocker treatments. Ejaculatory function was assessed with Danish Prostate Symptom Score sexual-function questionnaire (DAN-PSSsex). Data were analyzed using the Pearson correlation test, Mann-Whitney test and Kruskal-Wallis test. Results: There was a negative correlation between IPSS and IIEF (p<0.05). The incidences of ED in patients with LUTS were 50%, 81.8% and 69.2% in patients with mild, moderate and severe symptom, respectively. The frequency of erectile dysfunction was very high in patients especially with moderate symptoms. After alpha blocker treatment the percentage of patients with mild symptoms decreased, but those with moderate and severe symptoms increased. In our study there was no significant correlation between IIEF and fT levels but the mean level of fT in patients with ED was under 15 ng/ml. There was no correlation between serum lipid levels and the other parameters. Conclusion: There is a strong correlation between LUTS and ED. As the severity of LUTS increases the incidence of ED increases. Alpha blocker treatment seems to slightly increase the incidence of ED and ejaculatory problems. Patients with LUTS and ED have lower levels of fT, but this is not statistically significant. There is no correlation between serum lipids and other parameters. Leptin levels might be important in predicting LUTS and ED relationship for future research.

M.İ. KARAMAN, M. GÜRDAL, M. ÖZTÜRK et al.

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Josh Bleicher, Robin D. Kim, Blake Hamilton et al.

Pei Chen, Su-Fang Shi, Zhen Qu et al.

Background: Coexistence of IgA nephropathy (IgAN) and membranous nephropathy (MN) in the same patient is rare. Few studies have reported the clinical and pathological features of patients with combined IgAN and MN (IgAN–MN). Methods: The clinico-pathological features, levels of galactose-deficient IgA1 (Gd-IgA1) and autoantibodies against M-type transmembrane phospholipase A2 receptor (anti-PLA2R) in sera were compared among IgAN–MN, IgAN, and MN patients. Results: Twenty-six patients with biopsy-proven IgAN–MN were enrolled. The mean age at biopsy was 43.6 ± 15.9 years, and 65.4% were male. Proteinuria and estimated glomerular filtration rate (eGFR) levels in patients with IgAN–MN were similar to that of MN patients. Compared with the IgAN patients, IgAN–MN patients showed a higher median proteinuria level (4.3 vs. 1.2 g/day, p < .001), and a higher mean eGFR level (101.8 ± 25.4 vs. 78.6 ± 26.9 mL/min/1.73 m2, p < .001). IgAN–MN patients presented with milder pathological lesions than IgAN patients according to the Oxford Classification. IgAN–MN patients had comparable serum levels of Gd-IgA1 with those of IgAN patients (353.4 ± 95.5 vs. 347.0 ± 109.6 U/mL, p = .801). Percentage of IgAN–MN patients with detectable serum levels of anti-PLA2R was lower than that of MN patients (38.5% vs. 68.6%, p = .011). Conclusions: IgAN–MN patients display similar clinical features to MN patients and milder pathological lesions than IgAN patients. IgAN–MN patients have similar levels of Gd-IgA1 to those of IgAN patients, and a lower proportion of anti-PLA2R than MN patients.

Giorgina B. Piccoli, Adamasco Cupisti

Abstract In this editorial we present the special issue dedicated to low-protein diets (LPDs) in chronic kidney disease, from a global perspective. The experiences gathered from several countries across all continents have created an issue which we hope you will find insightful, and lead to further discussion on this interesting topic. We discover that LPDs are feasible in both developed and low income countries, in patients where literacy is an issue, and are also safe, including during pregnancy and in old age. Patients prescribed a low protein diet are more inclined to follow and adhere to this change in lifestyle, provided the diet has been adapted to meet their own individual needs. With an increasing list of different menu options and better medical advice being offered we no longer need to identify low protein diets with a specific menu, ingredient or supplement, or with a specific level of protein restriction. Evidence shows how the best diet is often the one chosen by the patients, which doesn’t drastically affect their day-to-day life, and delays the start of dialysis for as long as is safe under careful clinical control. The colourful menus gathered from all over the world remind us that a low protein diet does not necessarily mean that the pleasure of preparing a delicious meal is lost. The final comment is therefore dedicated to our patients: low protein diets can be beautiful.