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1.
Brain ; 2024 Jun 04.
Artículo en Inglés | MEDLINE | ID: mdl-38833182

RESUMEN

Parkinson's disease (PD) is characterised neuropathologically by the degeneration of dopaminergic neurons in the ventral midbrain, the accumulation of α-synuclein (α-syn) aggregates in neurons, and chronic neuroinflammation. In the past two decades, in vitro, ex vivo and in vivo studies have consistently shown the involvement of inflammatory responses mediated by microglia and astrocytes, which may be elicited by pathological α-syn or signals from affected neurons and other cell types, and are directly linked to neurodegeneration and disease development. Besides the prominent immune alterations seen in the central nervous system (CNS), including the infiltration of T-cells into the brain, more recent studies have demonstrated important changes in the peripheral immune profile within both the innate and adaptive compartments, particularly involving monocytes, CD4+ and CD8+ T-cells. This review aims to integrate the consolidated understanding of immune-related processes underlying the pathogenesis of PD, focusing on both central and peripheral immune cells, neuron-glia crosstalk as well as the central-peripheral immune interaction during the development of PD. Our analysis seeks to provide a comprehensive view of the emerging knowledge of the mechanisms of immunity in PD and the implications of this for better understanding the overall pathogenesis of this disease.

2.
Mov Disord ; 39(6): 965-974, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38509638

RESUMEN

BACKGROUND: Patient-focused outcomes present a central need for trial-readiness across all ataxias. The Activities of Daily Living part of the Friedreich Ataxia Rating Scale (FARS-ADL) captures functional impairment and longitudinal change but is only validated in Friedreich Ataxia. OBJECTIVE: Validation of FARS-ADL regarding disease severity and patient-meaningful impairment, and its sensitivity to change across genetic ataxias. METHODS: Real-world registry data of FARS-ADL in 298 ataxia patients across genotypes were analyzed, including (1) cross-correlation with FARS-stage, Scale for the Assessment and Rating of Ataxia (SARA), Patient-Reported Outcome Measure (PROM)-ataxia, and European Quality of Life 5 Dimensions visual analogue scale (EQ5D-VAS); (2) sensitivity to change within a trial-relevant 1-year median follow-up, anchored in Patient Global Impression of Change (PGI-C); and (3) general linear modeling of factors age, sex, and depression (nine-item Patient Health Questionnaire [PHQ-9]). RESULTS: FARS-ADL correlated with overall disability (rhoFARS-stage = 0.79), clinical disease severity (rhoSARA = 0.80), and patient-reported impairment (rhoPROM-ataxia = 0.69, rhoEQ5D-VAS = -0.37), indicating comprehensive construct validity. Also at item level, and validated within genotype (SCA3, RFC1), FARS-ADL correlated with the corresponding SARA effector domains; and all items correlated to EQ5D-VAS quality of life. FARS-ADL was sensitive to change at a 1-year interval, progressing only in patients with worsening PGI-C. Minimal important change was 1.1. points based on intraindividual variability in patients with stable PGI-C. Depression was captured using FARS-ADL (+0.3 points/PHQ-9 count) and EQ5D-VAS, but not FARS-stage or SARA. CONCLUSION: FARS-ADL reflects both disease severity and patient-meaningful impairment across genetic ataxias, with sensitivity to change in trial-relevant timescales in patients perceiving change. It thus presents a promising patient-focused outcome for upcoming ataxia trials. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.


Asunto(s)
Actividades Cotidianas , Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Calidad de Vida , Medición de Resultados Informados por el Paciente , Ataxia/fisiopatología , Ataxia/diagnóstico , Ataxia de Friedreich/fisiopatología , Ataxia de Friedreich/diagnóstico , Ataxia de Friedreich/genética , Reproducibilidad de los Resultados , Anciano , Sistema de Registros , Adulto Joven , Diferencia Mínima Clínicamente Importante
3.
Int J Neurosci ; 132(5): 439-449, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-32938288

RESUMEN

PURPOSE/AIM OF THE STUDY: Parkinson's disease (PD) is the second most common neurodegenerative disorder. Vitamin D deficiency is suggested to be related to PD. A genome-wide association study indicated that genes involved in vitamin D metabolism affect vitamin D levels. Among these genes, single nucleotide polymorphisms (SNPs) of the vitamin D receptor (VDR) and vitamin D binding protein (VDBP/GC) genes have also been demonstrated to be associated with PD risk. Our aim was to investigate the relevance of SNPs within the 7-dehydrocholesterol reductase/nicotinamide adenine dinucleotide synthetase 1 (DHCR7/NADSYN1) locus and vitamin D 25-hydroxylase (CYP2R1) gene, which encode important enzymes that play a role in the vitamin D synthesis pathway, with PD and its clinical features. MATERIALS AND METHODS: Genotypes of 382 PD patients and 240 cognitively healthy individuals were evaluated by a LightSNiP assay for a total of 10 SNPs within the DHCR7/NADSYN1 locus and CYP2R1 gene. RESULTS: There were no significant differences in the allele and genotype distributions of any of the SNPs between any patient groups and healthy subjects. However, our results indicated that all of the SNPs within the DHCR7/NADSYN1 locus and CYP2R1 gene, except rs1993116, were associated with clinical motor features of PD including initial predominant symptom, freezing of gait (FoG) and falls as well as disease stage and duration of the disease. CONCLUSIONS: In conclusion, genetic variants of the DHCR7/NADSYN1 locus and the CYP2R1 gene might be related to the inefficient utilization of vitamin D independent from vitamin D levels, and it might result in differences in the clinical features of PD patients.


Asunto(s)
Ligasas de Carbono-Nitrógeno con Glutamina como Donante de Amida-N , Colestanotriol 26-Monooxigenasa , Familia 2 del Citocromo P450 , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH , Enfermedad de Parkinson , Vitamina D , Ligasas de Carbono-Nitrógeno con Glutamina como Donante de Amida-N/genética , Colestanotriol 26-Monooxigenasa/genética , Familia 2 del Citocromo P450/genética , Trastornos Neurológicos de la Marcha/genética , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Humanos , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/genética , Enfermedad de Parkinson/genética , Polimorfismo de Nucleótido Simple , Vitamina D/metabolismo , Deficiencia de Vitamina D
4.
Sensors (Basel) ; 22(5)2022 Feb 25.
Artículo en Inglés | MEDLINE | ID: mdl-35270972

RESUMEN

The Unified Parkinson's Disease Rating Scale (UPDRS) is a subjective Parkinson's Disease (PD) physician scoring/monitoring system. To date, there is no single upper limb wearable/non-contact system that can be used objectively to assess all UPDRS-III motor system subgroups (i.e., tremor (T), rigidity (R), bradykinesia (B), gait and posture (GP), and bulbar anomalies (BA)). We evaluated the use of a non-contact hand motion tracking system for potential extraction of GP information using forearm pronation-supination (P/S) motion parameters (speed, acceleration, and frequency). Twenty-four patients with idiopathic PD participated, and their UPDRS data were recorded bilaterally by physicians. Pearson's correlation, regression analyses, and Monte Carlo validation was conducted for all combinations of UPDRS subgroups versus motion parameters. In the 262,125 regression models that were trained and tested, the models within 1% of the lowest error showed that the frequency of P/S contributes to approximately one third of all models; while speed and acceleration also contribute significantly to the prediction of GP from the left-hand motion of right handed patients. In short, the P/S better indicated GP when performed with the non-dominant hand. There was also a significant negative correlation (with medium to large effect size, range: 0.3-0.58) between the P/S speed and the single BA score for both forearms and combined UPDRS score for the dominant hand. This study highlights the potential use of wearable or non-contact systems for forearm P/S to remotely monitor and predict the GP information in PD.


Asunto(s)
Enfermedad de Parkinson , Marcha , Análisis de la Marcha , Humanos , Enfermedad de Parkinson/diagnóstico , Postura , Pronación , Supinación , Extremidad Superior
5.
Mov Disord ; 36(7): 1676-1688, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33624863

RESUMEN

BACKGROUND: The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations. OBJECTIVE: To identify the prevalence and genetic structure of hereditary ataxias in the Turkish population. METHODS: Our cohort consisted of 1296 index cases and 324 affected family members. Polymerase chain reaction followed by Sanger sequencing or fragment analysis were performed to screen for the trinucleotide repeat expansions in families with a dominant inheritance pattern, as well as in sporadic cases. The expansion in the frataxin (FXN) gene was tested in all autosomal recessive cases and in sporadic cases with a compatible phenotype. Whole-exome sequencing was applied to 251 probands, selected based on the family history, age of onset, and phenotype. RESULTS: Mutations in known ataxia genes were identified in 30% of 1296 probands. Friedreich's ataxia was found to be the most common recessive ataxia in Turkey, followed by autosomal recessive spastic ataxia of Charlevoix-Saguenay. Spinocerebellar ataxia types 2 and 1 were the most common dominant ataxias. Whole-exome sequencing was performed in 251 probands with an approximate diagnostic yield of 50%. Forty-eight novel variants were found in a plethora of genes, suggesting a high heterogeneity. Variants of unknown significance were discussed in light of clinical data. CONCLUSION: With the large sample size recruited across the country, we consider that our results provide an accurate picture of the frequency of hereditary ataxias in Turkey. © 2021 International Parkinson and Movement Disorder Society.


Asunto(s)
Atrofia Óptica , Ataxias Espinocerebelosas , Degeneraciones Espinocerebelosas , Humanos , Espasticidad Muscular , Turquía/epidemiología
6.
Int J Urol ; 26(6): 638-642, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-30873655

RESUMEN

OBJECTIVE: To analyze factors influencing reflux resolution in patients with the coexistence of non-neurogenic lower urinary tract dysfunction and vesicoureteral reflux. METHODS: The data of 153 children who were diagnosed with vesicoureteral reflux and accompanying non-neurogenic lower urinary tract dysfunction between 2010 and 2015 were retrospectively evaluated. Patients with neurogenic and anatomical malformations, monosymptomatic nocturnal enuresis, previous history of vesicoureteral reflux surgery, irregular and/or incomplete follow-up data were excluded. After exclusion of 55 patients, 98 patients were enrolled in this study. Patients were divided into two groups according to the presence of spontaneous vesicoureteral reflux resolution during the follow-up period. Group 1 consisted of 54 children with spontaneous vesicoureteral reflux resolution, whereas group 2 included 44 children without resolution. Medical history, physical examination, urinalysis, uroflowmetry combined with electromyography, ultrasonography, as well as the Dysfunctional Voiding and Incontinence Symptom Score questionnaire were also evaluated. RESULTS: The mean age at presentation was 7.57 ± 0.23 years (range 5-13 years), and the mean follow-up period was 28.3 months. Significant differences were noted between the two groups in terms of dysfunctional voiding and incontinence symptom score, bladder wall thickness, and the post-void residual urine volumes. In addition, lower urinary tract symptoms, namely frequency, urgency and daytime incontinence, were found to be higher in group 2. In multivariate analysis, post-void residual urine volume and Dysfunctional Voiding and Incontinence Symptom Score were found to affect reflux resolution rates (P = 0.002, P = 0.002, respectively). CONCLUSIONS: The absence of significant post-void residual urine volume, and a low Dysfunctional Voiding and Incontinence Symptom Score increase the likelihood of spontaneous resolution rates of vesicoureteral reflux in children with non-neurogenic lower urinary tract dysfunction.


Asunto(s)
Síntomas del Sistema Urinario Inferior/diagnóstico , Síntomas del Sistema Urinario Inferior/fisiopatología , Incontinencia Urinaria/fisiopatología , Reflujo Vesicoureteral/fisiopatología , Adolescente , Niño , Preescolar , Electromiografía , Femenino , Humanos , Modelos Logísticos , Masculino , Anamnesis , Análisis Multivariante , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , Ultrasonografía , Incontinencia Urinaria/complicaciones , Urodinámica , Reflujo Vesicoureteral/complicaciones
7.
Int Braz J Urol ; 45(2): 376-383, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30785702

RESUMEN

PURPOSE: Retained or forgotten ureteral stents (FUS) have a potential to cause significant morbidity as well as medico-legal issues and increased cost. We aimed to evaluate the efficacy and usefulness of smartphone-based Ureteral Stent Tracker (UST) application and compare the results with basic appointment card system to prevent FUS, prospectively. MATERIALS AND METHODS: A total of 90 patients who underwent ureteroscopic stone treatment procedure with indwelling DJ stents were equally distributed into two groups. In group-1, patients were followed using UST application. In group-2, only appointment cards were given to the patients. Two groups were compared in terms of stent overdue times and complete lost to follow up rates. RESULTS: Forty-four patients in group-1 and 43 patients in group-2 completed the study. Among patients, 22.7% in group-1 and 27.9% in group-2 did not return for the stent removal on the scheduled day. In group-1, these patients were identified using the UST and called for the stent removal on the same day. After 6 weeks of maximal waiting period, mean overdue times in group-1 and group-2 were 3.5 days and 20 days, respectively (p = 0.001) . In group-2, 3 patients (6.9%) were lost to follow up, while in group-1, it was none (p = 0.001). CONCLUSIONS: We found that the patients who were followed by the smartphone-based UST application has less overdue times and lost to follow up cases compared to the basic appointment card system. The UST application easily follows patients with indwelling ureteral stents and can identify patients when overdue.


Asunto(s)
Cuerpos Extraños/prevención & control , Teléfono Inteligente , Stents/efectos adversos , Uréter/cirugía , Ureteroscopía/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Remoción de Dispositivos/métodos , Femenino , Cuerpos Extraños/complicaciones , Cuerpos Extraños/cirugía , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Cálculos Ureterales/etiología , Cálculos Ureterales/cirugía , Adulto Joven
8.
Medicina (Kaunas) ; 55(6)2019 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-31216752

RESUMEN

Background and objective: We investigated the ability of preoperative serum values of red blood cell distribution width (RDW), neutrophil lymphocyte ratio (NLR) and plateletcrit (PCT) to predict Fuhrman grades (FG) and tumor stages of renal cell carcinoma in patients who underwent radical nephrectomy. Materials and methods: Records of 283 patients that underwent radical or partial nephrectomy of renal masses at our clinic between January 2010 and April 2018, whose pathology results indicated renal cell carcinoma (RCC), and who had their FG and T1-4 N0M0 identified were retrospectively evaluated. The patients were divided into two groups based on their FG as low (I-II) and high (III-IV) and their T stages were similarly grouped as limited to kidney (pT1-pT2) and not limited to kidney (pT3-pT4). Results: Mean RDW, NLR, PCT cut-off values of the patients for FG and T stage were 15.65%, 3.54, 0.28% and 14.35%, 2.69, 0.28%, respectively. The RDW and NLR were determined to be statistically significant predictors of a pathologically high FG, whereas the PCT value was not a statistically significant predictor of high FG (p = 0.003, p = 0.006, p = 0.075, respectively). The relationship of RDW, NLR and PCT values with a limited to the kidney pathological T stage revealed statistically significant correlations for all three values. Conclusions: We determined that only RDW and NLR were markers predicting FG, while PCT had no prognostic value. On the other hand, all three of these values were associated with a limited to the kidney pathological T stage in patients who underwent nephrectomy due to renal masses and whose pathologies suggested RCC.


Asunto(s)
Carcinoma de Células Renales/diagnóstico , Eritrocitos/patología , Valor Predictivo de las Pruebas , Adulto , Anciano , Anciano de 80 o más Años , Área Bajo la Curva , Carcinoma de Células Renales/fisiopatología , Femenino , Humanos , Recuento de Linfocitos/métodos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias/métodos , Neutrófilos/fisiología , Pronóstico , Curva ROC , Estudios Retrospectivos
9.
Turk J Med Sci ; 49(1): 153-161, 2019 Feb 11.
Artículo en Inglés | MEDLINE | ID: mdl-30764592

RESUMEN

Background/aim: This study was designed to determine the characteristic features of upper urinary system urothelial carcinomas (UUSUCs) and to evaluate the clinicopathological parameters associated with prognosis. Materials and methods: A total of 74 cases of UUSUC were included, from three different centers. Demographic data and histopathological features such as tumor localization, concomitant tumor in the urinary system, distant metastasis with overall survival and disease-free survival obtained from the hospital records were evaluated retrospectively. Histopathologic prognostic features such as grade, perineural invasion, lymphovascular invasion, tumor necrosis, and surgical margin status were also evaluated. Results: Seventy cases (94.6%) underwent open nephroureterectomy whereas 4 cases (5.4%) had laparoscopic nefroureterectomy. Thirty-eight (51.4%) cases were located in the pelvis, 7 (9.5%) in the ureter, 29 (39.2%) both in the pelvis and ureter. Fifty-six (75.7%) cases were alive; however, 18 (24.3%) patients were found to be dead. pTa, pT1, pT2, pT3, and pT4 tumors were reported in 16 (21.6%), 13 (17.6%), 4 (5.4%), 28 (37.8%), and 13 (17.6%) patients, respectively. Histopathologically, 17 cases (23%) were low-grade, 57 cases (77%) were high-grade. Statistically significant correlation was observed between overall survival and lymph node metastasis, distant metastasis, tumor necrosis, and differentiation by univariate analysis. Only distant metastasis was statistically associated with overall survival by multivariate analysis. We found no significant relationship between disease-free survival and all parameters. Conclusion: Differentiation and necrosis of tumor, lymph node involvement, and presence of distant metastasis is associated with the overall survival of urothelial carcinoma of the upper urinary system.


Asunto(s)
Carcinoma de Células Transicionales , Neoplasias Renales , Metástasis Linfática/diagnóstico , Nefroureterectomía , Neoplasias Ureterales , Carcinoma de Células Transicionales/diagnóstico , Carcinoma de Células Transicionales/mortalidad , Carcinoma de Células Transicionales/patología , Carcinoma de Células Transicionales/fisiopatología , Correlación de Datos , Femenino , Humanos , Neoplasias Renales/diagnóstico , Neoplasias Renales/mortalidad , Neoplasias Renales/patología , Neoplasias Renales/fisiopatología , Masculino , Márgenes de Escisión , Persona de Mediana Edad , Clasificación del Tumor , Invasividad Neoplásica , Estadificación de Neoplasias , Nefroureterectomía/efectos adversos , Nefroureterectomía/métodos , Nefroureterectomía/estadística & datos numéricos , Pronóstico , Estudios Retrospectivos , Análisis de Supervivencia , Turquía/epidemiología , Neoplasias Ureterales/diagnóstico , Neoplasias Ureterales/mortalidad , Neoplasias Ureterales/patología , Neoplasias Ureterales/fisiopatología , Urotelio/patología
10.
Ideggyogy Sz ; 72(7-8): 282-284, 2019 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-31517462

RESUMEN

Introduction - Although the involvement of the hypoglossal nerve together with other cranial nerves is common in several pathological conditions of the brain, particularly the brainstem, isolated hypoglossal nerve palsy is a rare condition and a diagnostic challenge. Case presentation - The presented patient arrived to the hospital with a history of slurred speech and an uncomfortable sensation on his tongue. Neurological examination showed left-sided hemiatrophy of the tongue with fasciculations and deviation towards the left side during protrusion. Based on the clinical and MRI findings, a diagnosis of hypoglossal nerve schwannoma was made. Discussion - Hypoglossal nerve palsy may arise from multiple causes such as trauma, infections, neoplasms, and endocrine, autoimmune and vascular pathologies. In our case, the isolated involvement of the hypoglossal nerve was at the skull base segment, where the damage to the hypoglossal nerve may occur mostly due to metastasis, nasopharyngeal carcinomas, nerve sheath tumors and glomus tumors. Conclusion - Because of the complexity of the region's anatomy, the patient diagnosed with hypoglossal nerve schwannoma was referred for gamma knife radiosurgery.


Asunto(s)
Enfermedades del Nervio Hipogloso/patología , Nervio Hipogloso/patología , Venas Yugulares/patología , Neurilemoma/patología , Neoplasias de los Nervios Craneales/diagnóstico por imagen , Humanos , Nervio Hipogloso/cirugía , Enfermedades del Nervio Hipogloso/cirugía , Imagen por Resonancia Magnética , Neurilemoma/cirugía , Radiocirugia
11.
Arch Ital Urol Androl ; 90(2): 112-116, 2018 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-29974726

RESUMEN

OBJECTIVES: We aimed to evaluate the effect of American Society of Anesthesiology (ASA) classification scoring and age on complications and surgical outcomes during and after percutaneous nephrolithotomy (PCNL) operation. MATERIAL AND METHODS: The records of 263 patients, above the age of 18 years, that underwent PCNL surgery between October 2014 and May 2017 were evaluated retrospectively. The patients were divided into three groups based on their ASA risk scores (ASA 1, 2, 3) and into two groups based on their age (younger and older than 65 years). Postoperative complications were assessed according to the ASA groups and age and according to the Clavien classification system. RESULTS: The number of patients in the ASA 1, 2, and 3 groups were 97 (36.8%), 131 (49.8%) and 35 (13.3%), respectively. Four patients in ASA4 were not included in the study. There was no significant difference in ASA 1, 2, 3 groups in terms of changes in Hgb values, mean duration of operation, and mean hospital stay. When ASA1 was compared to ASA3 and ASA2 was compared to ASA3, there was no significant difference in the incidence of all complication rates. There were 159 (60.4%) patients in the young group and 104 (39.5%) patients in the elderly group. Postoperative PCNL complications of these 2 groups were compared according to Clavien classification system and no significant difference was found in incidence of complications. CONCLUSIONS: We believe that PCNL operation can be performed effectively and safely in both ASA3 patients and patients above the age of 65 years.


Asunto(s)
Nefrolitotomía Percutánea/efectos adversos , Nefrolitotomía Percutánea/clasificación , Complicaciones Posoperatorias/clasificación , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Anestesiología , Femenino , Hemoglobinas/análisis , Humanos , Masculino , Persona de Mediana Edad , Nefrolitiasis/complicaciones , Nefrolitiasis/terapia , Nefrolitotomía Percutánea/estadística & datos numéricos , Estudios Retrospectivos , Sociedades Médicas , Resultado del Tratamiento
12.
Ideggyogy Sz ; 71(9-10): 337-342, 2018 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-30335266

RESUMEN

BACKGROUND AND PURPOSE: Impaired shoulder function is the most disabling problem for daily life of Fascioscapulohumeral muscular dystrophy (FSHD) patients. Scapulothoracic arthrodesis can give a high impact to the functionality of patients. Here we report our experience with scapulothoracic arthrodesis and spinal stenosis surgery in FSHD patients. METHODS: 32 FSHD patients were collected between 2015-2016. Demographical and clinical features were documented. All the patients were neurologically examined. The Medical Research Council (MRC) and the FSHD evaluation scale was used to assess muscle involvement1. Scapulothoracic arthrodesis and spinal stenosis surgeries were performed in eligible patients. RESULTS: There were 16 male and 16 female (mean age 34.4 years; range 12-73) patients. 6 shoulders of 4 patients aged between 2132 years underwent scapulothoracic arthrodesis (two bilateral, one left and one right sided). Only one 63 years old female patient with severe hyperlordosis had spinal fusion surgery. All of the patients undergoing these corrective surgeries have better functionality in daily life, as well as superior shoulder elevation. CONCLUSION: Until the emergence and clinical use of novel therapeutics, surgical interventions are indicated in carefully selected patients with FSHD to improve arm movements, the posture and the quality of life of patients in general. Scapulothorosic arthrodesis is a management with good clinical results and patient satisfaction. In selected cases other corrective orthopedic surgeries like spinal fusion may also be considered.


Asunto(s)
Artrodesis/métodos , Distrofia Muscular Facioescapulohumeral/cirugía , Costillas/cirugía , Escápula/cirugía , Adulto , Femenino , Humanos , Masculino , Distrofia Muscular Facioescapulohumeral/fisiopatología , Calidad de Vida , Rango del Movimiento Articular , Escápula/fisiopatología , Pared Torácica/cirugía , Resultado del Tratamiento
14.
Arch Ital Urol Androl ; 87(4): 280-5, 2016 Jan 14.
Artículo en Inglés | MEDLINE | ID: mdl-26766798

RESUMEN

Urinary system stones can be classified according to size, location, X-ray characteristics, aetiology of formation, composition, and risk of recurrence. Especially urolithiasis during pregnancy is a diagnostic and therapeutic challenge. In most cases, it becomes symptomatic in the second or third trimester. Diagnostic options in pregnant women are limited due to the possible teratogenic, carcinogenic, and mutagenic risk of foetal radiation exposure. Clinical management of a pregnant urolithiasis patient is complex and demands close collaboration between patient, obstetrician and urologist. We would like to review current diagnosis and treatment modalities of stone disease of pregnant woman.


Asunto(s)
Litotricia , Nefrostomía Percutánea , Complicaciones del Embarazo/diagnóstico por imagen , Complicaciones del Embarazo/cirugía , Ureteroscopía , Cálculos Urinarios/diagnóstico por imagen , Cálculos Urinarios/cirugía , Adulto , Femenino , Humanos , Embarazo , Resultado del Tratamiento , Ultrasonografía
15.
Arch Ital Urol Androl ; 87(4): 330-1, 2016 Jan 14.
Artículo en Inglés | MEDLINE | ID: mdl-26766809

RESUMEN

Primary renal cell carcinomas have rarely been reported in patients with crossed fused renal ectopia. We presented a patient with right to left crossed fused kidney harbouring renal tumor. The most frequent tumor encountered in crossed fused renal ectopia is renal cell carcinoma. In this case, partial nephrectomy was performed which pave way to preservation of the uninvolved both renal units. Due to unpredictable anatomy, careful preoperative planning and meticulous delineation of renal vasculature is essential for preservation of the uninvolved renal units.


Asunto(s)
Carcinoma de Células Renales/diagnóstico , Carcinoma de Células Renales/cirugía , Neoplasias Renales/diagnóstico , Neoplasias Renales/cirugía , Riñón/anomalías , Riñón/cirugía , Nefrectomía , Adulto , Carcinoma de Células Renales/complicaciones , Femenino , Humanos , Neoplasias Renales/complicaciones , Nefrectomía/métodos , Tratamientos Conservadores del Órgano , Resultado del Tratamiento
16.
Int Braz J Urol ; 41(3): 442-8, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26200537

RESUMEN

INTRODUCTION: Tumor diameter is a reliable parameter to estimate tumor volume in solid organ cancers; its use in prostate cancer is controversial since it exhibits a more irregular pattern of growth. This study aimed to examine the association between the tumor volume estimations based on transrectal ultrasound (TRUS) guided biopsy results and the tumor volume measured on the pathological specimen. MATERIALS AND METHODS: A total of 237 patients who underwent radical retropubic prostatectomy (RRP) were included in this retrospective study. The differences and correlations between cancer volume estimations based on TRUS guided biopsy findings and cancer volume estimations based on post-prostatectomy pathology specimens were examined. In addition, diagnostic value of TRUS guided biopsy-based volume estimations in order to predict clinically significant cancer (>0.5 cc) were calculated. RESULTS: The mean cancer volume estimated using TRUS biopsy results was lower (5.5±6.5 cc) than the mean cancer volume calculated using prostatectomy specimens (6.4±7.6 cc) (p<0.041).TRUS guided biopsy examination resulted in 5 false positive and 15 false negative cases. There was a significant but weak correlation between the two parameters (r=0.62, p<0.001). The sensitivity and specificity of TRUS guided biopsy in predicting the presence of clinically significant cancer was 93.4% (95% CI, 89.1-96.1) and 50.0% (95% CI, 20.1-79.9), respectively. CONCLUSIONS: TRUS guided biopsy-derived estimations seem to have a limited value to predict pathologically established tumor volume. Further studies are warranted to identify additional methods that may more accurately predict actual pathological characteristics and prognosis of prostate cancer.


Asunto(s)
Biopsia por Aspiración con Aguja Fina Guiada por Ultrasonido Endoscópico/métodos , Próstata/patología , Neoplasias de la Próstata/patología , Carga Tumoral , Adulto , Anciano , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Próstata/diagnóstico por imagen , Próstata/cirugía , Prostatectomía/métodos , Neoplasias de la Próstata/diagnóstico por imagen , Neoplasias de la Próstata/cirugía , Estudios Retrospectivos , Sensibilidad y Especificidad , Estadísticas no Paramétricas , Ultrasonografía Intervencional/métodos
17.
Sisli Etfal Hastan Tip Bul ; 57(2): 232-237, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37899810

RESUMEN

Objectives: We aim to compare balance and gait parameters in patients diagnosed with Parkinson's disease (PD) and normal pressure hydrocephalus (NPH). Methods: A total of 13 patients with NPH, 20 with PD, and 13 healthy controls (HC) recruited in the study. Three IMU sensors (Ambulatory PD Monitoring Inc., OR, USA) were placed on the lumbar area and the feet of the participants. The balance evaluations comprised eight successive standing tasks; the modified clinical test of sensory interaction on balance test. These tasks involved standing with feet apart and eyes open as well as eyes closed on a firm and foam surface, standing with feet together and eyes open as well as eyes closed, and tandem stance with the right foot front and the left foot front. Functional evaluations of gait were conducted using the 10-M Walk Test (10 MWT), the 2 min-Walk Test (2 MWT), and the timed-up and go (TUG). Parameters of the gait and balance were analyzed and then compared. Results: NPH patients displayed a notable decrease in both stride length and gait speed as compared with both PD patients and healthy participants. The balance tests revealed that the NPH group demonstrated significantly poorer performance, specifically in the feet-apart eyes-closed foam-surface test, and the tandem stance test. During the tasks while eyes were open on firm and foam surfaces, PD and NPH groups showed an increase in root mean square sway, range, and mean velocity (p<0.05) of sway in the anteroposterior plane. In addition, during the TUG test, the NPH group exhibited a significant prolongation in the time needed to complete the task and a decline in turning velocity as compared to PD, but no notable difference was seen in comparison to the HC group. Conclusion: Our study indicated that the patients with NPH exhibited notably worse gait and balance measurements in comparison to both the PD patients and HC groups. These findings emphasize the significance of monitoring and managing gait and balance impairments in NPH patients. Sensor-based technologies may offer objective parameters for a more precise and efficient follow-up of these patients in terms of gait and balance.

18.
Mult Scler Relat Disord ; 69: 104428, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36450174

RESUMEN

BACKGROUND: Multiple Sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) that may lead to progressive disability. Here, we explored the behavioral pattern and the role of vasculature especially PDGFRB+ pericytes/ perivascular cells, in MS pathogenesis. METHODS: We have evaluated vascular changes in two different experimental allergic encephalomyelitis (EAE) mice models (MOG and PLP-induced). PDGFRB+ cells demonstrated distinct and different behavioral patterns. In both models, fibrosis formation was detected via collagen, fibronectin, and extracellular matrix accumulation. RESULTS: The PLP-induced animal model revealed that fibrosis predominantly occurs in perivascular locations and that PDGFRB+ cells are accumulated around vessels. Also, the expression of fibrotic genes and genes coding extracellular matrix (ECM) proteins are upregulated. Moreover, the perivascular thick wall structures in affected vessels of this model presented primarily increased PDGFRB+ cells but not NG2+ cells in the transgenic NG2-DsRed transgenic animal model. On the other hand, in MOG induced model, PDGFRB+ perivascular cells were accumulated at the lesion sites. PDGFRB+ cells colocalized with ECM proteins (collagen, fibronectin, and lysyl oxidase L3). Nevertheless, both MOG and PLP-immunized mice showed increasing EAE severity, and disability parallel with enhanced perivascular cell accumulation as the disease progressed from earlier (day 15) to later (day 40). CONCLUSION: As a result, we have concluded that PDGFRB+ perivascular cells may be participating in lesion progression and as well as demonstrating different responses in different EAE models.


Asunto(s)
Encefalomielitis Autoinmune Experimental , Esclerosis Múltiple , Ratones , Animales , Fibronectinas/efectos adversos , Receptor beta de Factor de Crecimiento Derivado de Plaquetas/genética , Glicoproteína Mielina-Oligodendrócito , Pericitos/metabolismo , Pericitos/patología , Ratones Endogámicos C57BL , Modelos Animales de Enfermedad
19.
Noro Psikiyatr Ars ; 59(4): 321-324, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36514518

RESUMEN

Introduction: Parkinson's disease (PD) is a progressive neurodegenerative disease that starts unilaterally in almost all cases and tends to emerge on the side of the dominant hand, but what we know about the cause of this lateralization is limited. Frequent use of the extremity and physical activity are argued to be protective from PD in preclinical and clinical studies. This study aimed to evaluate the effect of handedness and working in occupations that require continuous use of upper extremities on the disease onset-side. Methods: We retrospectively collected 84 PD patients who applied to Koç University Neurology outpatient clinic between July 2016-October 2018. We analyzed the parameters of the side and region of disease onset, age of onset, number of drugs used for PD, hand preference, and patients' occupations. Results: The median age of our study group was 61 (53-69). Thirty (36%) of the 84 patients were women. Seventy-nine patients (94%) were right-handed. Eighty-three (99%) had asymmetric onset. The disease started on the dominant hand side in 47 patients (57%) and on the non-dominant hand side in 36 (43%) patients. In our group with a median disease duration of four (2-7) years, the side with more severe complaints measured with the Unified Parkinson's Disease Evaluation Scale was consistent with the onset-side of the disease (p<0.001). In addition, the number of drugs used for PD and the scale score were higher in patients with longer disease duration (p=0.039, p=0.005). The number of drugs used for PD was also higher in patients with lower extremity-onset or both upper and lower extremities affected simultaneously than the upper extremity-onset (p=0.005). While the probability of starting on the dominant side was 43% in patients working in occupations requiring continuous use of upper extremities, it was 65% in others (p=0.027). Conclusion: According to this study, the onset of PD tends to be on the dominant hand side. Continuous upper extremity use may reduce the possibility of starting on the dominant side.

20.
Turk Neurosurg ; 32(2): 341-343, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34936080

RESUMEN

Subdural hematomas constitute rare causes of secondary Parkinsonism in elderly. Subacute or chronic subdural hematomas occur in the elderly following minor head trauma or even without a remarkable history of trauma. A 69-year-old woman admitted with a rapidly progressive acute-onset hemiparkinsonism on the left side of her body. She denied any precipitating event before the onset of her symptoms, and her medical history was unremarkable. The anti-Parkinsonian therapy showed no benefit, but gradually worsening of the symptoms was observed. Her brain magnetic resonance imaging revealed a large subacute-chronic subdural hematoma on the right side with a mass effect on the basal ganglia structures, contralateral to her symptomatology. On thorough questioning, she confessed to having fallen out of the bed at night almost four weeks ago, three-weeks before the onset of her symptomatology. She had no complications associated with this fall and merely remembered this event. She denied any history of rapid eye movements (REM) sleep behavior disorder. The anti-Parkinsonian treatment was discontinued; the subdural hematoma was evacuated via burr hole drainage surgery. Her symptoms disappeared instantly after the surgery, with a normal neurologic examination one week after the surgery.


Asunto(s)
Traumatismos Craneocerebrales , Hematoma Subdural Crónico , Anciano , Traumatismos Craneocerebrales/complicaciones , Drenaje , Femenino , Hematoma Subdural Crónico/complicaciones , Hematoma Subdural Crónico/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética
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