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1.
Kidney Int Rep ; 8(10): 2088-2099, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37849993

RESUMEN

Introduction: The penetrance and phenotypic spectrum of autosomal dominant Alport Syndrome (ADAS), affecting 1 in 106, remains understudied. Methods: Using data from 174,418 participants in the Geisinger MyCode/DiscovEHR study, an unselected health system-based cohort with whole exome sequencing, we identified 403 participants who were heterozygous for likely pathogenic COL4A3 variants. Phenotypic data was evaluated using International Classification of Diseases (ICD) codes, laboratory data, and chart review. To evaluate the phenotypic spectrum of genetically-determined ADAS, we matched COL4A3 heterozygotes 1:5 to nonheterozygotes using propensity scores by demographics, hypertension, diabetes, and nephrolithiasis. Results: COL4A3 heterozygotes were at significantly increased risks of hematuria, decreased estimated glomerular filtration rate (eGFR), albuminuria, and kidney failure (P < 0.05 for all comparisons) but not bilateral sensorineural hearing loss (P = 0.9). Phenotypic severity was more severe for collagenous domain glycine missense variants than protein truncating variants (PTVs). For example, patients with Gly695Arg (n = 161) had markedly increased risk of dipstick hematuria (odds ratio [OR] 9.50; 95% confidence interval [CI]: 6.32, 14.28) and kidney failure (OR 7.02; 95% CI: 3.48, 14.16) whereas those with PTVs (n = 119) had moderately increased risks of dipstick hematuria (OR 1.64; 95% CI: 1.03, 2.59) and kidney failure (OR 3.44; 95% CI: 1.28, 9.22). Less than a third of patients had albuminuria screening completed, and fewer than 1 of 3 were taking inhibitors of the renin-angiotensin-aldosterone system. Conclusion: This study demonstrates a wide spectrum of phenotypic severity in ADAS due to COL4A3 with phenotypic variability by genotype. Future studies are needed to evaluate the impact of earlier diagnosis, appropriate evaluation, and treatment of ADAS.

3.
medRxiv ; 2023 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-37163122

RESUMEN

Most data on Alport Syndrome (AS) due to COL4A3 are limited to families with autosomal recessive AS or severe manifestations such as focal segmental glomerulosclerosis (FSGS). Using data from 174,418 participants in the Geisinger MyCode/DiscovEHR study, an unselected health system-based cohort with whole exome sequencing, we identified 403 participants (0.2%) who were heterozygous for likely pathogenic COL4A3 variants. Phenotypic data was evaluated using International Classification of Diseases (ICD) codes, laboratory data, and chart review. To evaluate the phenotypic spectrum of genetically-determined autosomal dominant AS, we matched COL4A3 heterozygotes 1:5 to non-heterozygotes using propensity scores by demographics, hypertension, diabetes, and nephrolithiasis. COL4A3 heterozygotes were at significantly increased risks of hematuria, decreased estimated glomerular filtration rate (eGFR), albuminuria, and end-stage kidney disease (ESKD) (p<0.05 for all comparisons) but not bilateral sensorineural hearing loss (p=0.9). Phenotypic severity tended to be more severe among patients with glycine missense variants located within the collagenous domain. For example, patients with Gly695Arg (n=161) had markedly increased risk of dipstick hematuria (OR 9.47, 95% CI: 6.30, 14.22) and ESKD diagnosis (OR 7.01, 95% CI: 3.48, 14.12) whereas those with PTVs (n=119) had moderately increased risks of dipstick hematuria (OR 1.63, 95% CI: 1.03, 2.58) and ESKD diagnosis (OR 3.43, 95% CI: 1.28, 9.19). Less than a third of patients had albuminuria screening completed, and fewer than 1/3 were taking inhibitors of the renin-angiotensin-aldosterone system (RAASi). Future studies are needed to evaluate the impact of earlier diagnosis, appropriate evaluation, and treatment of ADAS.

4.
Acta Endocrinol (Buchar) ; 18(4): 442-451, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-37152870

RESUMEN

Context: Both human immunodeficiency virus (HIV) infection and hepatitis C virus (HCV) infection represent systemic diseases that may develop metabolic complications, thus HIV/HCV coinfection metabolic changes need to be depicted. Objective: We aimed to evaluate the body composition changes in patients with either HIV and HCV monoinfections or HIV/HCV coinfection. Methods: 123 young men divided into three groups: 41 with HIV/HCV coinfection, 42 with HIV-monoinfection, and 40 with HCV-monoinfection were evaluated for total and regional bone and soft tissue body composition assessments using a Dual-energy X-ray absorptiometry (DXA) and were compared with 40 healthy men with age and body mass index similar to the study groups. To detect sarcopenia, we calculated the appendicular limbs' lean mass index (ALMI), for obesity, we used the percent of body fat, and for lipodystrophy, we calculated the trunk/limbs index. Results: HIV/HCV coinfection is associated with a significant higher bone demineralization in all regions of interest compared to HCV or HIV monoinfections and to controls. The prevalence of bone demineralization in HIV/HCV patients was 31.7%, more frequently at lumbar spine. Fat mass and lean mass were significantly lower in HIV/HCV-coinfected patients than in controls. Lipodystrophy was found in similar percentages in all three evaluated groups (80.4% in HIV/HCV, 92.5% in HIV, and 95% in the HCV group). Sarcopenia was higher in HIV/HCV group (43.9%) and important in HCV-monoinfection group (30%). Conclusions: HIV/HCV-coinfected patients had the highest prevalence of bone demineralization, fat mass, and lean mass loss, compared to controls and to HIV and HCV monoinfections.

5.
Materials (Basel) ; 14(19)2021 Sep 26.
Artículo en Inglés | MEDLINE | ID: mdl-34639979

RESUMEN

To enhance the sliding wear and corrosion behavior of steels with low carbon content, cermet composite coatings are usually deposited on their surface by various deposition processes. Laser cladding, compared to other deposition techniques such as electroplating, arc welding, and thermal spraying, has numerous advantages to produce such protective coatings. The paper presents the optimization of laser cladding deposition speed versus energy density in order to obtain WC-Co/NiCrBSi coatings with Ni-Al addition free of defects and reduced porosity deposited on low carbon steel substrate. The microstructure and chemical composition were investigated by SEM combined with EDX analysis while XRD was performed in order to examinate the phases within the coatings. In order to investigate the cladding speed influence on the coatings, hardness measurements, POD (pin on disk) wear tests and corrosion tests in 3.5% NaCl solution were carried out. The results showed that an optimal cladding speed has a crucial impact on the microstructure, composition, and hardness. It was found out that optimizing the cladding deposition speed proved to be effective in enhancing the sliding wear resistance and corrosion behavior by controlling the iron content within the coatings.

6.
Kidney Med ; 3(4): 565-575.e1, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34401724

RESUMEN

RATIONALE & OBJECTIVE: Digital health system tools to support shared decision making and preparation for kidney replacement treatments for patients with chronic kidney disease (CKD) are needed. STUDY DESIGN: Descriptive study of the implementation of digital infrastructure to support a patient-centered health system intervention. SETTING & PARTICIPANTS: 4 CKD clinics within a large integrated health system. EXPOSURE: We developed an integrated suite of digital engagement tools to support patients' shared decision making and preparation for kidney failure treatments. Tools included an automated CKD patient registry and risk prediction algorithm within the electronic health record (EHR) to identify and prioritize patients in need of nurse case management to facilitate shared decision making and preparation for kidney replacement treatments, an electronic patient-facing values clarification tool, a tracking application to document patients' preparation for treatments, and an EHR work flow to broadcast patients' treatment preferences to all health care providers. OUTCOMES: Uptake and acceptability. ANALYTIC APPROACH: Mixed methods. RESULTS: From July 1, 2017, through June 30, 2018, the CKD registry identified 1,032 patients in 4 nephrology clinics, of whom 243 (24%) were identified as high risk for progressing to kidney failure within 2 years. Kidney Transitions Specialists enrolled 117 (48%) high-risk patients by the end of year 1. The values tool was completed by 30/33 (91%) patients who attended kidney modality education. Nurse case managers used the tracking application for 100% of patients to document 287 planning steps for kidney replacement therapy. Most (87%) high-risk patients had their preferred kidney replacement modality documented and displayed in the EHR. Nurse case managers reported that the tools facilitated their identification of patients needing support and their navigation activities. LIMITATIONS: Single institution, short duration. CONCLUSIONS: Digital health system tools facilitated rapid identification of patients needing shared and informed decision making and their preparation for kidney replacement treatments. FUNDING: This work was supported through a Patient-Centered Outcomes Research Institute (PCORI) Project Program Award (IHS-1409-20967). TRIAL REGISTRATION: ClinicalTrials.gov NCT02722382.

7.
J Med Life ; 9(2): 130-6, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27453741

RESUMEN

Gastric stump cancer (GSC) is the malignant tumor that develops in the gastric remnant after partial gastrectomy was performed both for benign and malignant lesions. This paper presents the results of the case studies from the scientific literature, which focused on GSC, and has been published in the last 10 years. The search was performed with the help of the specific tools offered by the international databases. The subject was approached because of the constant rising incidence of GSC in the past few years, now reaching values between 1% and 7%. The outcome report is consistent and similar to the period that ended approximately 25 years ago, when general surgeons dedicated a significant part of their activity to treating gastric ulcer. Statistics revealed that the main risk factors are the following: the type of reconstruction after distal gastrectomy (Billroth I or Billroth II), the presence of duodenogastric reflux, the time between gastric resections, and the moment of diagnosis of gastric stump cancer, the initial pathology for which partial gastrectomy was performed, gender, age, helicobacter pylori infection, Epstein Barr virus infection and the presence of vagotomy. All the authors have significantly contributed to the article and have been involved in the writing of the manuscript in draft and any revision stages, and have read and approved the final version.


Asunto(s)
Muñón Gástrico , Neoplasias Gástricas/etiología , Adulto , Factores de Edad , Anciano , Reflujo Duodenogástrico , Femenino , Gastrectomía , Infecciones por Helicobacter , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Factores Sexuales , Neoplasias Gástricas/epidemiología
8.
Chirurgia (Bucur) ; 109(2): 174-8, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24742406

RESUMEN

INTRODUCTION: Postoperative common bile duct (CBD) lithiasis holds a significant place in the bilio-pancreatic pathology, both due to its high frequency as well as to the diagnostic and treatment issues it triggers. MATERIAL AND METHODS: Based on a 5-year experience (2008-2012), assessed retrospectively, totalling 51 patients with postoperative lithiasis of CBD, we tried to elaborate on several recommendations for the treatment of this pathology. The recommendations were guided by the existing alternative therapeutic options and by the ideas in the literature regarding the results achieved by every manner of treatment. RESULTS: The rate of clearance of the CBD was of 93.6%,the morbidity rate was of 10.65% and the mortality rate was of 0%, which entitles us to deem the effectiveness of the minimally invasive treatment as maximum in the treatment of this pathology. CONCLUSIONS: The endoscopic treatment of postoperative lithiasis of the CBD proved to be possible, efficient and we believe it good to be used as a principle; open surgery should be the solution in case of failures or of contraindications to minimally invasive treatment.


Asunto(s)
Colangiopancreatografia Retrógrada Endoscópica , Coledocolitiasis/cirugía , Conducto Colédoco/cirugía , Periodo Posoperatorio , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Colangiopancreatografia Retrógrada Endoscópica/estadística & datos numéricos , Coledocolitiasis/diagnóstico por imagen , Coledocolitiasis/epidemiología , Conducto Colédoco/diagnóstico por imagen , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reoperación , Estudios Retrospectivos , Rumanía/epidemiología , Esfinterotomía Endoscópica/estadística & datos numéricos , Resultado del Tratamiento
9.
Clin J Am Soc Nephrol ; 9(5): 874-80, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24578337

RESUMEN

BACKGROUND AND OBJECTIVES: A modest protective association between bisphosphonate prescription and mortality among women with CKD but without clinically manifest cardiovascular disease has been shown. Whether a prior cardiovascular event (myocardial infarction, stroke, or heart failure) modifies this association is unknown. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: A cohort of adult women with stages 3 and 4 CKD receiving primary care in a rural integrated health care system during the period 2004-2011 without history of advanced malignancy or organ transplantation (n=6756, median age=74 years, median follow-up=4.3 years) was retrospectively assembled. The primary analysis compared those patients prescribed bisphosphonates (both prevalent and incident use during follow-up) with those patients not prescribed. Additional approaches were taken to account for survival and indication biases. The primary outcome was time to death by Cox multivariable regression. RESULTS: In the primary analysis, compared with women not prescribed a bisphosphonate, the hazard ratio (95% confidence interval) for death among women prescribed a bisphosphonate was 0.90 (0.78 to 1.04) if there was no history of cardiovascular event but 1.22 (1.04 to 1.42) if there was history of cardiovascular event (P for interaction=0.004). In the additional approaches, associations between bisphosphonate prescription and mortality among those patients with a prior cardiovascular history varied: hazard ratios (95% confidence intervals) were 1.25 (1.01 to 1.57), 1.48 (1.16 to 1.88), and 0.94 (0.66 to 1.34). Interaction by prior cardiovascular event history varied across these three approaches (P=0.07, P=0.22, and P=0.05). CONCLUSION: In this study of women with CKD, the association between bisphosphonate treatment and mortality risk was inconclusive across a series of analyses designed to account for various types of selection and indication bias.


Asunto(s)
Conservadores de la Densidad Ósea/uso terapéutico , Enfermedades Cardiovasculares/mortalidad , Difosfonatos/uso terapéutico , Insuficiencia Renal Crónica/tratamiento farmacológico , Insuficiencia Renal Crónica/mortalidad , Anciano , Comorbilidad , Femenino , Insuficiencia Cardíaca/mortalidad , Humanos , Infarto del Miocardio/mortalidad , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Factores de Riesgo , Accidente Cerebrovascular/mortalidad
10.
J Med Life ; 7(1): 90-3, 2014 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-24653765

RESUMEN

Incisional hernias are a common complication of abdominal surgery. Research shows that their incidence reaches 10%-11% of the total number of patients subject to laparotomy. Recurrent hernias are the main complication of eventrations and its rate ranges from 5 to 54%, depending on both the surgical procedure used and the follow-up methods. The goal of this study is the comparative cost analysis of two procedures used in the treatment of event rations, tissular versus alloplastic, the former, leading very often to recurrence requiring a new surgical intervention. The analysis comprised 156 cases of surgeries performed for incisional hernia in 2007 in the clinic of Surgery III, SUUB (Bucharest University Emergency Hospital). Tissular procedures were used in 42 cases and prosthetic procedures in 114 cases. The medium-term postoperative follow-up has revealed 17 relapses (40.4%) in the tissular batch and no relapse in the batch where parietal prosthesis was used. If the short-term costs of the tissular procedures are low as compared with the prosthetic procedures, on the medium-term the costs increase by 24.35% due to the high rate of relapses of tissular procedures. Therefore, the tissular procedure must be abandoned due to the high rate of relapse, as this drives additional costs required for the alloplastic repair of the abdominal parietal defects in a subsequent surgical intervention.


Asunto(s)
Hernia Abdominal/etiología , Hernia Abdominal/cirugía , Herniorrafia/economía , Herniorrafia/métodos , Laparotomía/efectos adversos , Costos y Análisis de Costo , Humanos , Prótesis e Implantes/economía , Recurrencia , Rumanía
11.
J Endocrinol Invest ; 37(6): 533-9, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24532267

RESUMEN

BACKGROUND: Impaired production of adipocytokines is a major factor incriminated in the occurrence of lipodystrophy (LD). OBJECTIVE: To evaluate LD prevalence and subtypes in HIV treatment-multiexperienced patients, and to determine the correlations between adipocytokines and LD subtypes. METHODS: Cross-sectional study in a Romanian tertiary care hospital, between 2008 and 2010, in HIV-positive patients, undergoing cART for ≥6 months. LD diagnosis, based on clinical and anthropometric data, was classified into lipoatrophy (LA), lipohypertrophy (LH) and mixed fat redistribution (MFR). Blood samples were collected for leptin, adiponectin and resistin assessments. RESULTS: We included 100 patients, 44 % with LD, among which LA had 63 %. LA patients had sex ratio, median age, treatment duration and median number of ARV regimens of 1, 20, 93 and 3.5 compared to non-LD patients: 1.65, 31, 44 and 1. LH and MFR patients were older and had higher total and LDL cholesterol versus non-LD patients. For both overall group and female group, LA was associated in univariate and multivariate analysis with increased resistin (p = 0.02 and 0.04) and number of ARV regimens (p < 0.001). Determination coefficient (Nagelkerke R (2)) of increased resistin and the number of ARV combinations in the presence of LA was 33 % in overall group and 47 % in female patients. CONCLUSIONS: In our young HIV-positive population, LD had high prevalence with predominance of LA subtype. LA was associated with high resistin levels and greater number of ARV regimens in overall group and female subgroup. Resistin could be used as a marker of peripheral adipose tissue loss and might be used as a target for new anti-LD therapeutic strategies.


Asunto(s)
Fármacos Anti-VIH/uso terapéutico , Infecciones por VIH/tratamiento farmacológico , Síndrome de Lipodistrofia Asociada a VIH/epidemiología , Resistina/sangre , Adiponectina/sangre , Adulto , Terapia Antirretroviral Altamente Activa , Estudios Transversales , Femenino , Infecciones por VIH/sangre , Síndrome de Lipodistrofia Asociada a VIH/sangre , Humanos , Leptina/sangre , Masculino , Persona de Mediana Edad , Prevalencia , Adulto Joven
12.
Chirurgia (Bucur) ; 109(6): 832-6, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25560509

RESUMEN

Agenesis of the inferior vena cava is an extremely rare abnormality, most often discovered by accident. This paper reports the case of a 41-year-old male patient, admitted to the IIIrd Emergency General Surgery Clinic of the Emergency University Hospital with the diagnosis of bilateral pelvic limb post-thrombotic syndrome. According to his personal history he had the first vascular surgical intervention at the age of 6. The surgical indication was determined by large hydrostatic varicoseveins of the lower limbs and the performed surgery was cosectomy with bilateral stripping of the great saphenousvein. Until admission to our clinic, the patient had repeated surgery for recurrent varicose veins of the lower limbs. The patient was diagnosed in our service with congenital agenesis of inferior vena cava, the evolution was good and the patient was discharged after 17 days. This paper presents the clinical,imagistic and therapeutic particularities of such a case. Imagistic detection of early vascular abnormality, identifying procoagulant factors and the close care of the local lesion areessential for patient evolution.


Asunto(s)
Procedimientos Quirúrgicos Vasculares , Vena Cava Inferior/anomalías , Trombosis de la Vena/etiología , Trombosis de la Vena/cirugía , Administración Oral , Adulto , Anticoagulantes/uso terapéutico , Índice de Masa Corporal , Diabetes Mellitus Tipo 2/complicaciones , Servicio de Urgencia en Hospital , Humanos , Hipertensión/complicaciones , Masculino , Obesidad Mórbida/complicaciones , Factores de Riesgo , Resultado del Tratamiento , Ultrasonografía , Procedimientos Quirúrgicos Vasculares/métodos , Vena Cava Inferior/diagnóstico por imagen , Trombosis de la Vena/tratamiento farmacológico
13.
Chirurgia (Bucur) ; 108(6): 774-9, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24331313

RESUMEN

INTRODUCTION: In our paper we present the results of a study that was meant to provide a complex answer to the question:"Which is the most appropriate, most correct and least expensive treatment for mixt cholecysto-choledochal lithiasis(MCCL)?" MATERIAL AND METHODS: Based on a five year experience (2008-2012), analysed retrospectively, during which 143 patients with MCCL were treated, we are trying to find answers to some of the questions that we have asked ourselves from the very beginning of this period. The answers were guided by alternative therapeutic options, for a pathology that does not have a "gold standard", with respect to the solutions available. RESULTS: Given the fact that the period during which the study was conducted was chosen randomly and that the patients were included consecutively, the representativeness of the results is ensured for any other patient diagnosed with this pathology and admitted to a clinic with the same specialty, dimensions and equipment as the one presented. CONCLUSIONS: This paper compares the results of our study to those of others, in terms of different or similar approach therapeutic options, developed in other minimally invasive surgery centres in the world, the final conclusions being encouraging for the therapeutic sequence that we practice.


Asunto(s)
Colecistectomía Laparoscópica/métodos , Colecistolitiasis/cirugía , Coledocolitiasis/cirugía , Adolescente , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Colangiopancreatografia Retrógrada Endoscópica , Colecistectomía Laparoscópica/instrumentación , Colecistolitiasis/diagnóstico , Colecistolitiasis/epidemiología , Coledocolitiasis/diagnóstico , Coledocolitiasis/epidemiología , Conversión a Cirugía Abierta , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Factores de Riesgo , Rumanía/epidemiología , Distribución por Sexo , Resultado del Tratamiento
14.
Chirurgia (Bucur) ; 108(6): 855-8, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24331326

RESUMEN

The present study tries to provide an expressive, customized answer to the question in the title. The study relies on a ten-year experience (2000-2009), evaluated retrospectively on a group of 488 prosthetic repairs of incisional herniae, out of which 432 were performed in a clean environment and 56 cases in a clean-contaminated one. The two groups are superimposable based on the Apache score. The visceral surgical procedures associated to the surgery of the parietal defect were varied (cholecystectomy, appendectomy, enterectomy enterorrhaphy,colectomy colotomy-colorrhaphy, hysterectomy with adnexectomy). The assessment of postoperative suppurative complications showed no significant differences between the two groups (p 0.001). These results lead us to the idea of defining the indication for parietal prosthetic repair in a contaminated environment. The major factors of this decision are: the nature, the source and the amount of the septicinoculum, the duration of exposure, the intensity of the host inflammatory response (more difficult to quantify), and finally the surgical judgment. The last mentioned factor will evaluate the above-mentioned data and will take into account that not all bacterial contaminations are necessarily followed by an established infection. Thus, additional exaggerations - which would mean taking useless, ineffective precautions- as well as negative exaggerations - which would mean hazardous boldness- will be avoided.


Asunto(s)
Pared Abdominal/cirugía , Profilaxis Antibiótica , Hernia Ventral/cirugía , Herniorrafia , Mallas Quirúrgicas , Infección de la Herida Quirúrgica/prevención & control , Adulto , Anciano , Anciano de 80 o más Años , Profilaxis Antibiótica/métodos , Femenino , Estudios de Seguimiento , Hernia Ventral/etiología , Herniorrafia/efectos adversos , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Mallas Quirúrgicas/efectos adversos , Infección de la Herida Quirúrgica/microbiología , Resultado del Tratamiento
15.
Balkan J Med Genet ; 16(1): 55-62, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24265585

RESUMEN

Torque teno viruses (TTVs) are recently discovered DNA viruses, with heterogeneous genomes, highly prevalent in populations worldwide. The species that infect humans are Torque teno virus (TTV), Torque teno midi virus (TTMDV) and Torque teno mini virus (TTMV). High-resolution melting analysis (HRMA) is a sensitive and effective method for genotyping and mutation scanning. Up to now, HRMA has not been utilized for detection of TTVs. The aim of this study was to asses if HRMA is suitable for detecting TTVs variants. DNA was extracted from the blood and saliva of 13 healthy subjects for method optimization. Additionally, saliva samples from 100 healthy individuals were collected for estimating the TTVs' prevalence. Viral DNA was amplified by heminested polymerase chain reaction (PCR). Second round amplicons were used for the HRMA. The samples were analyzed using two fluorescent dyes, SYBR (®) Green I and EvaGreen®. The prevalence values for TTV, TTMDV and TTMV were 71.0, 31.0 and 54.0%, respectively. The three major melting curve patterns corresponding to TTV, TTMDV and TTMV on HRMA can be easily distinguished regardless of kit used. Our results showed that HRMA is a rapid and efficient method of detecting human TTVs.

16.
Clin Nephrol ; 80(6): 433-40, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24075022

RESUMEN

AIMS: 30-day readmission rates after hospitalization for heart failure (HF) approach 25%, and patients with chronic kidney disease (CKD) are disproportionately represented. A retrospective cohort study was conducted to develop a prediction tool for 30-day readmission after hospitalization for HF among those with non-dialysis dependent CKD. METHODS: Geisinger primary care patients with Stage 3 - 5 CKD hospitalized with a primary discharge diagnosis of HF during the period July 1, 2004 through February 28, 2010 were eligible. Multivariate logistic regression was employed to build models from predictors of 30-day readmission, drawn from demographic, clinical, laboratory, and pharmaceutical variables in the electronic health record. Variables were manually removed to achieve a model with satisfactory goodness-of-fit and parsimony while maximizing area under the receiver operating characteristic curve (AUC). Internal validation was performed using the bootstrap resampling method (1,000 samples) to provide a bias-corrected AUC. RESULTS: 607 patients with CKD were admitted for HF during the study period; 116 (19.1%) were readmitted within 30 days. A model incorporating 23 variables across domains of medical history, active outpatient pharmaceuticals, vital signs, laboratory tests, and recent inpatient and outpatient resource utilization yielded an AUC (95% CI) of 0.792 (0.746 - 0.838). The bias-corrected AUC was 0.743. At an estimated readmission probability of 20%, the model correctly classified readmission status for 73% of the population, with a sensitivity of 69% and a specificity of 73%. CONCLUSION: A robust electronic health record may facilitate the identification of CKD patients at risk for readmission after hospitalization for HF.


Asunto(s)
Insuficiencia Cardíaca/epidemiología , Readmisión del Paciente/estadística & datos numéricos , Insuficiencia Renal Crónica/complicaciones , Anciano , Área Bajo la Curva , Estudios de Cohortes , Femenino , Hospitalización , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
17.
Clin Nephrol ; 80(4): 256-62, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23993165

RESUMEN

BACKGROUND/AIMS: Dynamic changes in estimated glomerular filtration rate (eGFR) predict death among patients with chronic kidney disease (CKD). Whether variability in serial eGFR measurements is associated with risk of end stage renal disease (ESRD) has not been reported. METHODS: We retrospectively analyzed the risk of ESRD as a function of eGFR variability (defined as the absolute value of the difference between the obtained clinical eGFR value at a given time and the eGFR value estimated by the linear regression line at the same time point) among a cohort of patients with Stage 3 CKD. The study population was comprised of adult primary care patients enrolled at Geisinger Clinic between January 1, 2004 and December 31, 2006, with Stage 3 CKD and a minimum of 4 serum creatinine results during this 3-year window, and without history of solid-organ transplant or metastatic cancer. Cohort members were followed through March 31, 2011 for ESRD (identified through linkage with the USRDS dataset of ESRD, or first outpatient eGFR < 15 ml/min/1.73 m2). A multivariate Cox proportional hazard model (adjusted for demographic factors, co-morbid conditions, medications, hospital-associated acute kidney injury, proteinuria, kidney function, and serum albumin, among other factors) was developed to test the association of eGFR variability with ESRD. RESULTS: 4,219 patients met study criteria. Those with greater eGFR variability were more likely to have diabetes, cardiovascular disease, and better baseline kidney function than those with lesser variability. 193 (4.6%) of the overall cohort developed ESRD during a median follow-up of 3.8 years, while 596 (14.1%) died prior to study end without ESRD. Results of the multivariate-adjusted Cox proportional hazard model showed that eGFR variability is not associated with ESRD (HR 1.00 for the highest-variability quartile, relative to the lowest; 95% CI 0.66 - 1.51). CONCLUSION: eGFR variability does not predict ESRD among patients with Stage 3 CKD.


Asunto(s)
Tasa de Filtración Glomerular/fisiología , Fallo Renal Crónico/epidemiología , Riñón/fisiopatología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Creatinina/sangre , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Fallo Renal Crónico/fisiopatología , Pruebas de Función Renal , Masculino , Persona de Mediana Edad , Pennsylvania/epidemiología , Modelos de Riesgos Proporcionales , Insuficiencia Renal Crónica/sangre , Insuficiencia Renal Crónica/complicaciones , Insuficiencia Renal Crónica/fisiopatología , Estudios Retrospectivos , Factores de Riesgo , Adulto Joven
18.
Chirurgia (Bucur) ; 108(4): 468-72, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23958087

RESUMEN

BACKGROUND: The distribution of BRCA mutations varies significantly between populations. The spectrum of BRCA1 and BRCA2 mutations in breast cancers in the Romanian population is incompletely known. The aim of the present study is to investigate the presence of nine BRCA mutations in patients with breast cancer identified in a surgical clinic from Bucharest. METHODS: Unrelated women diagnosed with breast cancer from Coltea Hospital (n=114) and healthy controls (n = 150) were selected for this study. Seven mutations in BRCA1 (185delAG, 5382insC, 943ins10, E1250X, 1294del40, E1373X, R1443X) and two in BRCA2 (IVS16-2A4G and 6174delT) were tested using PCR based protocols. In addition, the presence of BRCA1 185delAG, BRCA1 5382insC, BRCA2 6174delT mutations were tested with a post amplification mutation detection system, based on the ELISA method. RESULTS: Two patients with sporadic breast cancer (2%) and one patient with family history of the disease (7.14%) have the BRCA1 5382insC mutation. No other mutation was detected in patient and control groups. The mutations were not present in the control lot. CONCLUSIONS: Our results indicate that BRCA1 5382insC is a common mutation in Romanian women with breast cancer (3 114).


Asunto(s)
Biomarcadores de Tumor/genética , Neoplasias de la Mama/genética , Genes BRCA1 , Genes BRCA2 , Mutación , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias de la Mama/epidemiología , Estudios de Casos y Controles , Ensayo de Inmunoadsorción Enzimática , Femenino , Eliminación de Gen , Predisposición Genética a la Enfermedad , Genotipo , Hospitales Universitarios , Humanos , Pacientes Internos/estadística & datos numéricos , Persona de Mediana Edad , Mutagénesis Insercional , Mutación Puntual , Reacción en Cadena de la Polimerasa , Prevalencia , Rumanía/epidemiología
19.
Chirurgia (Bucur) ; 108(3): 414-7, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23790795

RESUMEN

The incidence of Intraabdominal Hypertension (IAH) and Abdominal Compartment Syndrome (ACS) is underestimated within the surgery of large size parietal-abdominal defects, with the maximum transverse diameter above 10 cm, being considered the main risk factor for the development of intra abdominal hypertension, together with ventilatory restraint under 60% and obesity. Intraabdominal hypertension has a prevalence of at least 50% among critical patients and was identified as an independent life-threatening risk factor.However, doctors do not evaluate it properly and do not realize the potential lethal consequences of untreated intraabdominal hypertension. These consequences may be abdominal compartment syndrome, followed by multiple organ dysfunction and even patient death. The paper intends to highlight the importance of the early recognition of this pathology, as a key factor in the correct management of these complications.


Asunto(s)
Hernia Ventral/complicaciones , Herniorrafia/efectos adversos , Hipertensión Intraabdominal/diagnóstico , Hipertensión Intraabdominal/etiología , Anciano , Índice de Masa Corporal , Descompresión Quirúrgica/métodos , Diagnóstico Precoz , Hernia Ventral/cirugía , Herniorrafia/métodos , Humanos , Hipertensión Intraabdominal/cirugía , Masculino , Obesidad/complicaciones , Factores de Riesgo , Resultado del Tratamiento
20.
Chirurgia (Bucur) ; 107(5): 555-63, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23116828

RESUMEN

Colorectal cancer (CRC) is an important public health problem; it is a leading cause of cancer mortality in the industrialized world, second to lung cancer: each year there are nearly one million new cases of CRC diagnosed worldwide and half a million deaths (1). This review aims to summarise the most important currently available markers for CRC that provide prognostic or predictive information. Amongst others, it covers serum markers such as CEA and CA19-9, markers expressed by tumour tissues, such as thymidylate synthase, and also the expression/loss of expression of certain oncogenes and tumour suppressor genes such as K-ras and p53. The prognostic value of genomic instability, angiogenesis and proliferative indices, such as the apoptotic index, are discussed. The advent of new therapies created the pathway for a personalized approach of the patient. This will take into consideration the complex genetic mechanisms involved in tumorigenesis, besides the classical clinical and pathological stagings. The growing number of therapeutic agents and known molecular targets in oncology lead to a compulsory study of the clinical use of biomarkers with role in improving response and survival, as well as in reducing toxicity and establishing economic stability. The potential predictive and prognostic biomarkers which have arisen from the study of the genetic basis of colorectal cancer and their therapeutical significance are discussed.


Asunto(s)
Biomarcadores de Tumor/análisis , Neoplasias Colorrectales/sangre , Neoplasias Colorrectales/genética , Apoptosis , Biomarcadores de Tumor/sangre , Antígeno CA-19-9/sangre , Antígeno Carcinoembrionario/sangre , Proliferación Celular , Neoplasias Colorrectales/química , Neoplasias Colorrectales/mortalidad , Neoplasias Colorrectales/patología , Genes p53/genética , Genes ras/genética , Inestabilidad Genómica , Humanos , Estadificación de Neoplasias , Neovascularización Patológica , Valor Predictivo de las Pruebas , Pronóstico , Sensibilidad y Especificidad , Timidilato Sintasa/análisis
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