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Disorders of sex development (DSD) are a group of rare conditions characterized by discrepancy between chromosomal sex, gonads and external genitalia. Congenital abnormalities of the kidney and urinary tract are often associated with DSD, mostly in multiple malformation syndromes. We describe the case of an 11-year-old Caucasian boy, with right kidney hypoplasia and hypospadias. Genome-wide copy number variation (CNV) analysis revealed a unique duplication of about 550 kb on chromosome Xq27, and a 46,XX karyotype, consistent with a sex reversal phenotype. This region includes multiple genes, and, among these, SOX3 emerged as the main phenotypic driver. This is the fifth case reporting a genomic imbalance involving the SOX3 gene in a 46,XX SRY-negative male, and the first with associated renal malformations. Our data provide plausible links between SOX3 gene dosage and kidney malformations. It is noteworthy that the current and reported SOX3 gene duplications are below the detection threshold of standard karyotypes and were found only by analyzing CNVs using DNA microarrays. Therefore, all 46,XX SRY-negative males should be screened for SOX3 gene duplications with DNA microarrays.
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The Second meeting on Rare Diseases in South Eastern Europe (SEE) was held in Skope, Macedonia on November 15-16, 2013. Objective and main data: Rare diseases (RD) are a major problem in developed and especially in countries without affluence. 6-8% of every population suffers from RD. The cumulative effect of RDs on the health system of a country is increasing. Diagnosis often remains a challenge and requires international collaboration. Treatment in diseases for which medication exist is often inaccessible to patients because of the high costs. All countries of SEE need screening programs that address more diseases. Patient organizations play a major role in increasing awareness and providing the needed pressure on society to treat treatable RDs. On the other hand, RDs are frequently a source of valuable new molecular insights not only on mechanisms of their etiology and pathology, but sometimes provide an insight on mechanisms of frequent diseases in man. Further efforts are needed in improving all the RD aspects mentioned.
Assuntos
Doenças Raras , Adolescente , Pré-Escolar , Países em Desenvolvimento , Europa (Continente) , União Europeia , Custos de Cuidados de Saúde , Hormônio do Crescimento Humano , Humanos , Lactente , Fator de Crescimento Insulin-Like I/deficiência , Mutação , Doenças Raras/diagnóstico , Doenças Raras/epidemiologia , Doenças Raras/genética , Receptores da Somatotropina/genética , República da Macedônia do Norte , Fatores SocioeconômicosRESUMO
Hepatitis C virus (HCV) is a major public health problem. It is a leading cause of chronic liver disease and the most common indication for liver transplantation. The therapy for eradication of HCV infection is successful in only 50.0-80.0% of patients and is highly dependent on the HCV genotype. Molecular detection and characterization of HCV in the Republic of Macedonia started in 1990. Since then, more than 4000 samples have been analyzed at the Research Centre for Genetic Engineering and Biotechnology (RCGEB) "Georgi D. Efremov," Skopje, Republic of Macedonia. The prevalence of HCV infections in the healthy population of the Republic of Macedonia was found to be 0.4%, while it varies between 23.0 and 43.0% in different at-risk groups of patients. The prevalence of HCV genotypes, according to associated risk factors in HCV infected patients from the Republic of Macedonia, was analyzed. We found genotype 1 to be predominant in a group of hemodialysis patients, while genotype 3 was predominant in intravenous (IV) drug users. Association of six polymorphisms in the Oligoadenylate synthetase (OASL)-like interferon-stimulated gene with a sustained virological response was also analyzed. Our preliminary results suggest that non ancestral alleles in four of the six studies polymorphisms in OASL gene are associated with sustained virological response among HCV infected patients in R. Macedonia.
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Balkan endemic nephropathy (BEN), a familial chronic tubulo-interstitial disease with a slow progression to terminal renal failure, affects people living in the alluvial plains along the tributaries of the Danube River. One of its most peculiar characteristics is a strong association with upper urothelial cancer. An increased incidence of upper urinary tract (UUT) transitional cell cancer (TCC) was discovered among the inhabitants of endemic settlements and in families affected by BEN. In areas where BEN is endemic, the incidence of upper tract TCC is significantly higher, even 100 times, than in non-endemic regions. A high incidence of urothelial cancer in end-stage BEN patients strongly suggests preventive nephro-ureterectomy in all end-stage patients with BEN treated with either transplantation or dialysis. Better understanding of the molecular mechanisms involved in carcinogenesis and tumor progression, has provided a large number of molecular markers of TCC, with a potential diagnostic and prognostic value. Markers that distinguish among TCC, normal urothelium, and benign urothelial conditions are potentially diagnostic, prognostic, and therapeutic targets. The geographic correlation and presence of AA-DNA adducts in both BEN and associated urothelial cancer, support the speculation that these diseases share a common etiology. Dietary exposure to AA is a significant risk factor for BEN and its attendant transitional cell cancer. These are cases of well-known AA induced urothelial carcinoma, and could be detected worldwide. The presence of more than one risk factors is possible and it is important to test etiological hypotheses in different endemic foci, preferably as a multicentric research.
Assuntos
Nefropatia dos Bálcãs/complicações , Neoplasias Urológicas/complicações , Ácidos Aristolóquicos/efeitos adversos , Nefropatia dos Bálcãs/diagnóstico , Nefropatia dos Bálcãs/epidemiologia , Carcinoma de Células de Transição/complicações , Carcinoma de Células de Transição/diagnóstico , Carcinoma de Células de Transição/epidemiologia , Adutos de DNA , Dieta , Doenças Endêmicas , Humanos , Prognóstico , Fatores de Risco , Neoplasias Urológicas/diagnóstico , Neoplasias Urológicas/epidemiologiaRESUMO
Mycophenolate mofetil (MMF) is an immunosuppressive drug successfully used for the prevention of acute and chronic rejection of renal allografts, as well as in the therapy of glomerular disorders. We treated three groups of patients with lupus nephritis: the first group of patients had a high histologic activity index (AI), 13.4 +/- 2.34; the second group of patients had a high histologic chronicity index (CI), 6.0 +/- 0.7; and the third group consisted of only two patients, one with low AI (3.5) and another with low CI (1.5). The patients were treated for 2 years. MMF was initiated at a dose of 2 g/daily for the first 6 months and the dose was decreased to 1.5 g/daily for the further 18 months. Steroids, 0.4 mg/kg/day, were the concomitant therapy for the first 6 months, with slow tapering for the further 18 months. Patients with high AI presented significant decrease of serum creatinine after 2 years, 286 +/- 112.95 to 131.2 +/- 44.65 micromol/L. Two of the patients, with acute oligoanuria, were withdrawn from dialysis treatment. Significant improvement was also noted, 6.97 +/- 1.81 to 0.9 +/- 0.31 g/day. Patients with high CI had nonsignificant decrease of serum creatinine, 178.5 +/- 47.73 to 129.25 +/- 22.88 micromol/L, and significant improvement of proteinuria, 4.63 +/- 1.57 to 1.14 +/- 0.39 g/day. The patient with low AI showed recovery of renal function (serum creatinine from 196 to 72 micromol/L) and alleviation of proteinuria, 7.93 to 3.4 g/day. The patient with low CI did not respond to the therapy and renal function slowly worsened. MMF has emerged as a promising therapeutic approach for both the induction and maintenance phase in patients with lupus nephritis.
Assuntos
Nefrite Lúpica/tratamento farmacológico , Ácido Micofenólico/análogos & derivados , Adulto , Feminino , Seguimentos , Humanos , Nefrite Lúpica/patologia , Masculino , Ácido Micofenólico/efeitos adversos , Ácido Micofenólico/uso terapêuticoRESUMO
Prostate cancer (PCa) is the second most frequently diagnosed malignancy in men worldwide. The introduction of prostate specific antigen (PSA) has greatly increased the number of men diagnosed with PCa but at the same time, as a result of the low specificity, led to overdiagnosis, resulting to unnecessary biopsies and high medical cost treatments. The primary goal in PCa research today is to find a biomarker or biomarker set for clear and effecttive diagnosis of PCa as well as for distinction between aggressive and indolent cancers. Different proteomic technologies such as 2-D PAGE, 2-D DIGE, MALDI MS profiling, shotgun proteomics with label-based (ICAT, iTRAQ) and label-free (SWATH) quantification, MudPIT, CE-MS have been applied to the study of PCa in the past 15 years. Various biological samples, including tumor tissue, serum, plasma, urine, seminal plasma, prostatic secretions and prostatic-derived exosomes were analyzed with the aim of identifying diagnostic and prognostic biomarkers and developing a deeper understanding of the disease at the molecular level. This review is focused on the overall analysis of expression proteomics studies in the PCa field investigating all types of human samples in the search for diagnostics biomarkers. Emphasis is given on proteomics platforms used in biomarker discovery and characterization, explored sources for PCa biomarkers, proposed candidate biomarkers by comparative proteomics studies and the possible future clinical application of those candidate biomarkers in PCa screening and diagnosis. In addition, we review the specificity of the putative markers and existing challenges in the proteomics research of PCa.
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Biomarcadores Tumorais/metabolismo , Hiperplasia Prostática/diagnóstico , Neoplasias da Próstata/diagnóstico , Proteômica , Diagnóstico Diferencial , Detecção Precoce de Câncer , Eletroforese em Gel Bidimensional , Humanos , Masculino , Prognóstico , Antígeno Prostático Específico/metabolismo , Hiperplasia Prostática/metabolismo , Neoplasias da Próstata/metabolismo , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por MatrizRESUMO
Wildervanck syndrome (WS) combines features of Klippel-Feil syndrome (KFS), sixth nerve palsy, and deafness. This is a case of a 23 year old woman, diagnosed with KFS (a triad of short neck, low posterior hairline and restricted neck movements) at the age of 20 days. The manifestations of the WS in this patient are severe: she has torticollis, and an extremely severe scoliosis. In addition, she is short (-3 SD; parental target height + 0.8SD) and has mixed sensorineural and conductive deafness. She also has ptosis, strabismus and a high myopia. Radiologically, there are multiple coalitions of cervical vertebrae. Intelligence is unaffected (IQ 95), but deafness, strabismus and high myopia forced her early out of school. Karyotype is 46, XX. In brief, this is a patient with severe WS and additional anomalies. Short and/or reduced parental target height is a part of WS.
Assuntos
Doenças do Nervo Abducente/diagnóstico , Anormalidades Múltiplas/diagnóstico , Surdez/diagnóstico , Síndrome da Retração Ocular/diagnóstico , Transtornos do Crescimento/diagnóstico , Cardiopatias Congênitas/diagnóstico , Comunicação Interatrial/diagnóstico , Síndrome de Klippel-Feil/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Escoliose/diagnóstico , Torcicolo/diagnóstico , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Feminino , Humanos , Índice de Gravidade de Doença , Adulto JovemRESUMO
BEN is a primary, chronic tubulointerstitial nephritis characterized with chronic anemia, absence of edema, xantoderma, normal blood pressure and normal findings on the fundus oculi. The disease is distributed in restricted areas in Bulgaria, Romania, Croatia, Bosnia, Former Yugoslavia. Despite numerous studies on genetic and environmental factors and their possible involvement in BEN, its etiopathogenesis still remains elusive. Our recent study aim to elucidate the possible epigenetic component in BEN development. Whole genome DNA array methylation analysis was applied to compare the methylation profiles of male and female BEN patients from endemic regions in Bulgaria and Serbia and healthy controls. All three most prominent candidate genes with aberrations in the epigenetic profile discovered with this study are involved in the inflammatory/immune processes and oncogenesis. These data are in concordance with the reported pathological alterations in BEN. This research supports the role of epigenetic changes in BEN pathology. Exome sequencing of 22.000 genes with Illumina Nextera Exome Enrichment Kit revealed three mutant genes (CELA1, HSPG2, and KCNK5) in BEN patients which encode proteins involved in basement membrane/extracellular matrix and vascular tone, tightly connected to process of angiogenesis. We suggest that an abnormal process of angiogenesis plays a key role in the molecular pathogenesis of BEN.
Assuntos
Nefropatia dos Bálcãs/genética , Metilação de DNA , Epigênese Genética , Epigenômica , Genoma Humano , Genômica , Nefropatia dos Bálcãs/diagnóstico , Nefropatia dos Bálcãs/epidemiologia , Bulgária/epidemiologia , Estudos de Casos e Controles , Análise Mutacional de DNA , Epigenômica/métodos , Exoma , Feminino , Perfilação da Expressão Gênica , Estudos de Associação Genética , Marcadores Genéticos , Predisposição Genética para Doença , Genômica/métodos , Proteoglicanas de Heparan Sulfato/genética , Humanos , Masculino , Mutação , Elastase Pancreática/genética , Fenótipo , Canais de Potássio de Domínios Poros em Tandem/genética , Fatores de Risco , Sérvia/epidemiologiaRESUMO
After the synthesis of epoetins alpha and -beta, a third molecule of recombinant human erythropoietin (rHuEPO) was synthesized and was named epoetin-omega. The molecule of epoetin-omega is a sialoglycoprotein with smaller amounts of O-bound sugars, less acidic and with different hydrophylity than the other 2 epoetins. The purpose of the study was to assess the efficacy, safety and clinical tolerance of epoetin-omega for treatment of renal anemia. In an open-label, uncontrolled prospective clinical study, 22 end-stage renal disease patients (9 male and 13 female) were followed for 6 months. They all had a hemoglobin (Hb) value below 85 g/l, and were on regular hemodialysis therapy 3 times a week, 4 hours per session. The initial weekly dose of epoetin-omega was 90 units per kg of body weight (b.w.) divided in 3 equal portions and administered subcutaneously after each dialysis session. After correction of the hemoglobin, the dose of rHuEPO was individualized to keep Hb within target limits of 100-120 g/l. To follow efficacy and safety, a number of clinical and laboratory parameters were monitored. All patients responded well to the therapy with corrected hemoglobin after the 10th week of the study. The mean dose of epoetin-omega during the correction period never exceeded 100 U/kg b.w. per week. The average maintenance dose of rHuEPO was 50-60 U/kg b.w. per week. Iron was, where needed, supplied intravenously. We noted no change in serum urea. creatinine, phosphorus, and heparin dose per dialysis session. The prothrombin time improved during the study. Serum albumin increased. No change was observed in urea reduction ratio (URR), body weight and mean arterial pressure. One serious adverse event was noted: worsening of hypertension in 1 patient, with the development of hypertensive encephalopathy and severe headache. rHuEPO treatment was stopped. The blood pressure was effectively controlled by reducting her body weight by 5%. Thereafter, rHuEPO therapy was resumed with good blood pressure control. We could conclude that recombinant human erythropoietin-omega was an efficient and safe therapeutic agent for the treatment of renal anemia.
Assuntos
Anemia/tratamento farmacológico , Eritropoetina/uso terapêutico , Falência Renal Crônica/terapia , Diálise Renal , Adolescente , Adulto , Anemia/etiologia , Feminino , Humanos , Ferro/administração & dosagem , Falência Renal Crônica/complicações , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Proteínas Recombinantes , Resultado do TratamentoRESUMO
A 35-year-old nephrotic man developed acute renal failure with serum creatinine to 1543 micromol/l after a month of therapy with enalapril. Renal biopsy demonstrated minimal glomerular changes with fusion of podocytes, tubular necrosis with regeneration of tubular epithelial cells, interstitial edema with focal interstitial fibrosis, and interstitial infiltration with neutrophils, eosinophils, plasma cells and mononuclear cells. Three hemodialyses were performed in the patient during the oliguric phase of the disease. Renal function was restored after withdrawal of enalapril and initiation of steroid therapy. Steroids also contributed to the improvement of the nephrotic syndrome and proteinuria decreased from maximal ranges of 27 g/l to 2.2 g/l after six months of the follow-up. Similar cases were previously described associated with captopril treatment, but not with enalapril.
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Injúria Renal Aguda/patologia , Enalapril/efeitos adversos , Túbulos Renais/patologia , Nefrose Lipoide/tratamento farmacológico , Injúria Renal Aguda/induzido quimicamente , Injúria Renal Aguda/tratamento farmacológico , Adulto , Ciclofosfamida/uso terapêutico , Enalapril/uso terapêutico , Humanos , Rim/patologia , Rim/ultraestrutura , Masculino , Metilprednisolona/uso terapêutico , Microscopia Eletrônica , Prednisona/uso terapêuticoRESUMO
We report on a patient who suffered from psoriasis vulgaris and psoriatic arthritis and developed nephrotic syndrome after long-term therapy with non-steroidal anti-inflammatory drugs. Membranous nephropathy with tubulointerstitial and vascular (intimal hyperplasia) changes were found on renal biopsy using optical, immunofluorescent and electron microscopy. Treatment with methylprednisolone "pulse" therapy (1 g/24 h during 3 days) and continuing with prednisone 0.5 mg/kg/24 h was ineffective and end-stage renal failure developed 6 months after the diagnosis had been established.
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Anti-Inflamatórios não Esteroides/uso terapêutico , Artrite Psoriásica/tratamento farmacológico , Glomerulonefrite Membranosa/patologia , Rim/patologia , Adulto , Artrite Psoriásica/complicações , Biópsia , Feminino , Glomerulonefrite Membranosa/complicações , Glomerulonefrite Membranosa/tratamento farmacológico , Humanos , Falência Renal Crônica/etiologia , Metilprednisolona/uso terapêutico , Microscopia Eletrônica , Microscopia de Fluorescência , Prednisona/uso terapêutico , Fatores de TempoRESUMO
We present two patients with Hantaan virus infection, admitted to the Department of Nephrology, Skopje, at the same time, with the same clinical presentation (chills, fever, abdominal pain, hemorrhages, nausea, headache, proteinuria, hematuria, oliguria, acute renal failure) but with different pathohistological findings and different disease courses. In the first case diffuse proliferative glomerulonephritis was found, with a complete recovery of renal function after a month, with a mild proteinuria and erythruria during the second and the third month. In the second case, glomeruli were normal in general, with slight mesangial proliferation found in two out of twenty, but interstitial edema, lymphocyte infiltrations and tubular changes were noted. Complete recovery was not noted after 3 months of follow-up. The patient is now without hemodialysis treatment, with polyuria, in the stable phase of chronic renal failure which is not improving.
Assuntos
Injúria Renal Aguda/microbiologia , Glomerulonefrite/microbiologia , Febre Hemorrágica com Síndrome Renal/patologia , Rim/patologia , Orthohantavírus , Adulto , Febre Hemorrágica com Síndrome Renal/epidemiologia , Febre Hemorrágica com Síndrome Renal/microbiologia , Humanos , Masculino , Iugoslávia/epidemiologiaRESUMO
Ten patients with chronic renal failure from different genesis (serum creatinine levels 150-200 mumol/l), were evaluated from the aspect of the effect of the diuretic therapy. The effects of furosemide (FUR) and polythiazide (POL) were assessed after 3-month application. The mean values of the estimated parameters before treatment, after 3-month administration of FUR as a monotherapy and after the next 3 months simultaneously used (FUR + POL), presented a stable increase of the diuresis, without statistically significant changes of the global renal function, and triglyceride disorders. On the contrary, the improvement of calciuria through combined using of furosemide and polythiazide is statistically and clinically significant.
Assuntos
Diuréticos/uso terapêutico , Furosemida/uso terapêutico , Falência Renal Crônica/tratamento farmacológico , Politiazida/uso terapêutico , Inibidores de Simportadores de Cloreto de Sódio/uso terapêutico , Humanos , Pessoa de Meia-Idade , Fatores de TempoRESUMO
1,019 adult patients with terminal renal failure were treated with dialysis (D) in the first part of the year 2000 in the Republic of Macedonia. 1,010 patients (99%) were treated with chronic intermittent (maintenance) hemodialysis (HD) while nine patients (1%) were on continuous ambulatory peritoneal dialysis (CAPD). For the children, a special peritoneal dialysis program was developed; 509 patients per million of the population (PMP) were on dialysis. The Republic of Macedonia is, therefore, among those central and eastern European countries with a higher PMP number in the treatment of end-stage renal disease, following Croatia, the Czech Republic and Slovenia. The patients were treated at 18 Centers in a network of HD Centers at a distance of 30-50 km. from their place of residence in order to facilitate their access to treatment and to work. All patients who have had symptoms indicating need for treatment with D were accepted for treatment. The government payed all the expenses of the treatment and the salaries of the staff. 56% were male and 44% were female patients. The youngest patient was aged 9 and the oldest was 82 years old. There has been an increase in the age of the patients on D as well as an increase in their number. In 1993 we had 727 patients being treated with D, and now we have 1,019 with a constant increase in the number of patients with ESRD and a need for D and renal transplantation. Mortality per year at the different Centers ranged from 8-19% in 1999 and the average is 12%. Glomerulonephritis (GN)--both primary and secondary--is the main cause of renal failure (RF) in some Centers up to 45%. Tubulo-interstitial disease follows GN. ADPKD patients constitute 9.4% with a difference among the Centers of 3-29%, and diabetic nephropathy is found in 10%, 5-15% in different Centers. 11-61% of patients have an unknown etiology. 352 patients are on treatment with human recombinant erythropoietin (rhuEPO) - in some Centers up to 60%. The mode of application was subcutaneous and the initial dose is 20 U/kg body weight and the mean maintenance dose of EPO per patient weekly is 4,000 U. The Cimino-Brescia arteriovenous fistula is being applied as a standard vascular access. The survival rate of our patients treated with maintenance HD at 5 years was 58%. CAPD and particularly renal transplantation are to be further developed as alternative methods in treating terminal renal failure.
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Falência Renal Crônica/terapia , Diálise Renal/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Derivação Arteriovenosa Cirúrgica , Criança , Eritropoetina/uso terapêutico , Feminino , Humanos , Falência Renal Crônica/etiologia , Masculino , Pessoa de Meia-Idade , República da Macedônia do Norte , Inquéritos e Questionários , Taxa de Sobrevida , Resultado do TratamentoRESUMO
Autonomic nervous system (ANS) function was evaluated in hemodialysis patients treated with recombinant human erythropoietin (rHu-EPO) before and after therapy, in an effort to evaluate the role of anemia in the genesis of autonomic dysfunction in chronic renal failure (CRF). Studies were conducted using a battery of five cardiovascular reflex tests: Valsalva maneuver, handgrip exercise, heart rate response to standing (30:15 index), post-Valsalva rise in blood pressure and postural drop in blood pressure. The patients were divided into two groups: group I consisted of 14 patients on maintenance hemodialysis treated with rHu-EPO for one year, and group II-13 hemodialysis patients treated with rHu-EPO for two years. The results of the tests were compared before and after the correction of anemia by rHu-EPO in each group, as well as with the control group of ten healthy subjects. Data show that renal anemia is not implicated in the genesis of ANS dysfunction in hemodialysis patients, since correction of same by rHu-EPO does not improve the autonomic dysfunction.
Assuntos
Sistema Nervoso Autônomo/efeitos dos fármacos , Eritropoetina/uso terapêutico , Falência Renal Crônica/terapia , Proteínas Recombinantes/uso terapêutico , Diálise Renal , Adolescente , Adulto , Idoso , Pressão Sanguínea/efeitos dos fármacos , Eletrocardiografia/efeitos dos fármacos , Eritropoetina/administração & dosagem , Eritropoetina/farmacologia , Feminino , Frequência Cardíaca/efeitos dos fármacos , Humanos , Injeções Subcutâneas , Falência Renal Crônica/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Postura , Proteínas Recombinantes/administração & dosagem , Proteínas Recombinantes/farmacologia , Manobra de ValsalvaRESUMO
Eight thousand eight hundred and forty nine different vascular hemodialysis accesses were performed in the period from 1976 until 1999 at the Department of Nephrology, Skopje: 3,114 native arterial-venous fistula (AVF), 715 arterial-venous shunts (AVS), 4,964 temporary or permanent catheters (4,411/88.86% femoral, 410/8.26% subclavian, 143/2.88% jugular) and 56 PTFE vascular grafts. Femoral catheterization (4,312/86.86%) is the favoured solution if a temporary vascular dialysis access is taken into consideration. The most popular chronic dialysis angio-access in our country is native AVF (90.5% of 3,440 permanent dialytic vascular accesses). The tunneled subcutaneously positioned catheters as a permanent dialytic angio-access were present in 270 cases (7.9%): 99 in femoral veins (our original method), 123 in subclavian veins and 48 catheters in jugular veins. The synthetic vascular grafts-PTFE (polytetrafluoro-ethylene) represent only 1.6% of all dialysis angio-accesses. The number of preventive AVFs created in patients with preterminal end-stage renal disease eventually increased; from 14% in the eighties, 20.8% after 10 years and 31.50% in 1999. Most of the preventive AVFs are done in outpatients 71.8% in 1999. This year 44.4% of all chronic vascular access were created in the same way. We prefer femoral catheters for both temporary and permanent access because our results show that femoral catheterization has a lower rate of early complications when compared to the subclavian catheterization group; the rate of late complications (thrombosis, stenosis, infections) is lower or the same; infections in femoral catheterizations are less frequent, compared to subclavian and jugular ones. Our contributions in the field of vascular access surgery are the three original methods which are constantly used at the Department: 1. Combination of temporary (AVS) and permanent vascular access (AVF) using the same blood vessels, performed in one surgical act; 2. Tunneled femoral catheter as a permanent vascular access for hemodialysis (2 types: on the abdominal wall and on the infrainguinal region - thigh); 3. Reduction of hyper-flow in AVF without the operation of "banding", with ligation of the artery before arteriovenous anastomosis.
Assuntos
Derivação Arteriovenosa Cirúrgica , Cateterismo Venoso Central , Cateteres de Demora , Diálise Renal/métodos , Adolescente , Adulto , Idoso , Derivação Arteriovenosa Cirúrgica/efeitos adversos , Prótese Vascular , Cateterismo Venoso Central/efeitos adversos , Cateteres de Demora/efeitos adversos , Feminino , Veia Femoral , Humanos , Masculino , Pessoa de Meia-Idade , Politetrafluoretileno , Insuficiência Renal/terapia , República da Macedônia do Norte , Fatores de Risco , Resultado do TratamentoRESUMO
Acquired renal cystic disease (ARCD) is a well documented complication of end-stage renal disease, and it has been related to the duration of dialysis therapy. The association of this condition with renal cell adenoma or carcinoma has already been established. There have also been studies on the concentration of some tumor markers in hemodialysis (HD) patients, clinically free from neoplastic disease, where it was concluded that some tumor markers could be elevated, despite the absence of malignant disease, suggesting their altered metabolism i.e. clearance by the hemodialysis membrane. We compared the pre-dialysis serum concentration of several tumor markers in three groups of chronic HD patients, all of whom had been on maintenance HD treatment for more than 5 years. Group 1 consisted of 16 patients without ARCD with a mean HD treatment duration of 97.06 +/- 28.25 months. Group 2 consisted of 32 patients with a mean HD treatment of 105.62 +/- 24.4 months, who had ARCD with less than 10 renal cysts detected by ultrasonography. Group 3 consisted of 14 patients with a mean HD duration of 109.92 +/- 37.72 months, with ARCD and more than 10 renal cysts. Concentration of the following tumor markers was determined by EIA or ELISA methods: carcinoembryonic antigen (CEA), mucin-like carcinoma-associated antigen (MCA), neuron-specific enolase (NSE), carbohydrate antigen 19-9 (CA 19-9), prostatic specific antigen (PSA), carbohydrate antigen 125 (CA 125), alpha fetoprotein (AFP), cytokeratin 19-fragments 21-1 (CYFRA 21-1). The concentration of all the tumor markers was comparable in all three patient groups, with no statistically significant difference between groups. The mean concentrations of MCA, PSA, CA 125 and AFP were within the normal range. CEA and CYFRA 21-1 had mean values in the upper limit of their normal values, while NSE and CA 19-9 were increased by more than twofold in all three patient groups. We concluded that (i) tumor markers should be used with caution when diagnosing neoplastic diseases in chronic HD patients, because of their altered metabolism, and (ii) that in the follow up of ARCD with possible neoplastic alteration, imaging techniques remain dominant diagnostic tools.
Assuntos
Biomarcadores Tumorais/sangue , Doenças Renais Císticas/epidemiologia , Diálise Renal/efeitos adversos , Adulto , Idoso , Antígenos Glicosídicos Associados a Tumores/sangue , Antígeno Ca-125/sangue , Antígeno Carcinoembrionário/sangue , Estudos de Coortes , Estudos Transversais , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Técnicas Imunoenzimáticas , Queratinas/sangue , Rim/diagnóstico por imagem , Rim/patologia , Doenças Renais Císticas/diagnóstico por imagem , Doenças Renais Císticas/etiologia , Masculino , Pessoa de Meia-Idade , Fragmentos de Peptídeos/sangue , Fosfopiruvato Hidratase/sangue , Antígeno Prostático Específico/sangue , Ultrassonografia , alfa-Fetoproteínas/metabolismoRESUMO
The hepatitis C virus is a highly prevalent infection among chronic dialysis patients and represents one of the major problems of hemodialysis units. Hepatitis C virus transmission occurs either by blood transfusion or nosocomially. One of the proposed pathways of nosocomial transmission of the hepatitis C virus is cross-contamination through the dialysis procedure. In an effort to elucidate whether the hepatitis C virus may pass across the hemodialysis membrane, we have performed analyses of ultrafiltrates collected in different stages of hemodialysis treatments, using different types of hemodialysis membranes and different types of dialysis machines. Samples collected from the dialysis compartment during the rinsing of the blood compartment at the end of the hemodialysis treatment were also analyzed. The hepatitis C virus was found in 17 out of 58 ultrafiltrate samples taken at different times of the hemodialysis treatment. Moreover, the hepatitis C virus was present in 15 out of 17 samples collected from the dialysate compartment during the saline solution rinsing step of the blood compartment. The presence of the hepatitis C virus had no strict correlation with the type of dialysis membrane or with the type of dialysis machine. Although the results suggest that the passage of the hepatitis C virus during the hemodialysis treatment is multi-factorial and case- specific, the most critical point is when the blood is flushed out with physiological saline.
Assuntos
Infecção Hospitalar/virologia , Hepacivirus/isolamento & purificação , Hepatite C/transmissão , Diálise Renal/efeitos adversos , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Hemodiafiltração/efeitos adversos , Humanos , RNA Viral/isolamento & purificação , Diálise Renal/instrumentação , Reação TransfusionalRESUMO
BACKGROUND: All patients with thymomatous Myasthenia Gravis (MG) should undergo early and total thymectomy, but controversy abounds in the choice of chronic immunosuppressive agents. The value of plasmaexchange (PE) in MG has been clearly established in preoperative preparation and treatment of myasthenic crisis. Whether PE may be used in the chronic long-term therapy of patients with thymomatous MG in addition to conventional immunosuppressive agents and cholinesterase inhibitors is yet to be answered. CASE HISTORY: We present a 40-year old woman with an 11 year history of MG. Thymectomy was done during the first year of the disease and the histopathologic finding was thymoma. To sustain clinical remission after thymectomy she continued with immunosuppression with methylprednisolone and cyclosporin A (or azathioprine) in addition to cholinesterase inhibitors. Despite the almost continuous immunosuppression, the disease course continued with fluctuating myasthenic weakness which few times progressed to myasthenic crisis requiring mechanical ventilation. During myasthenic crisis we performed 6-8 plasmapheresis at 2-3 day intervals in addition to conventional immunosuppressive therapy. The disease rapidly worsened in January 2000 and we started with intermittent plasmapheresis (3-6 procedures at 2-3 day intervals, every 6-8 weeks) in order to sustain remission. With this therapeutic protocol, during 20 months follow-up we managed to prevent myasthenic crisis and to avoid ventilatory support. CONCLUSIONS: Plasmaexchange could be used as a successful and safe therapeutic tool in chronic long-term therapy in addition to conventional immunosuppressive agents to sustain remission in patients with MG. This is particularly important in the treatment of patients with thymomatous MG because they have an increased frequency of myasthenic crisis and often respond poorly an to immunosuppression with steroids or other immunosuppressants.
Assuntos
Miastenia Gravis/terapia , Troca Plasmática/métodos , Timoma/cirurgia , Adulto , Azatioprina/uso terapêutico , Inibidores da Colinesterase/uso terapêutico , Ciclosporina/uso terapêutico , Feminino , Glucocorticoides/uso terapêutico , Humanos , Imunossupressores/uso terapêutico , Metilprednisolona/uso terapêutico , Miastenia Gravis/complicações , Indução de Remissão , Timectomia , Timoma/complicaçõesRESUMO
Femoral catheterization is fast and simple and associated with a low risk of complications. Those which occur can usually be managed easily. Femoral catheters are usually kept in place for a short period of a few days. We, instead, used femoral catheters (FC) as a temporary vascular access for a longer period of time (until the permanent vascular access matured) in inpatients and in outpatients on regular ambulatory hemodialysis who had a problem with their permanent access. We analyzed 59 patients with end-stage renal disease treated with hemodialysis (HD), divided into two groups. Of the group that started with hemodialysis (group I), only 16 patients were hospitalized during the maturation of native arterio-venous fistula (AVF). Duration time of the catheters was 15-47 days (average 32 days). The second group (group II) comprised 43 patients going on regular ambulatory hemodialysis who were discharged from hospital with femoral catheters. Duration time of catheters in this group was 13-183 days (average 44.2 days). Catheters were removed when AVF matured, or if a significant complication occured. We took blood culture from peripheral vein (BCP) and from catheter (BCC) on removal of the catheter, or when we suspected infection. Catheter tips (CT) were also sent for microbiological analysis. We monitored the clinical signs of infection. We compared microbiological results of BCP, BCC and CT from the two groups using chi-square test and we did not find any significant difference among the three types of findings (p<0.05). The FC was removed from one patient only from group II because of suspicion of catheter-related infection. Two pts were treated with antibiotics (AB) systemically and locally (AB was 'locked' in the catheter) because of febricity. When the catheters were removed the microbiological findings were sterile. We concluded that FC can be used without any problem for a longer period of time for ambulatory HD, with the provision of permanent care from a team specially trained for vascular access.