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Introduction: Vici syndrome is an ultra-rare, congenital disorder of autophagy characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Patients usually present in the neonatal period or infancy with profound hypotonia, based on information available from the nearly 100 cases reported to date. Case Presentation: We present 3 new cases of Vici syndrome confirmed by genetic analysis of EPG5 gene. The 3 male patients had neonatal hypotonia, progressive microcephaly, psychomotor retardation, recurrent respiratory tract infections, optic atrophy, and failure to thrive, but no cataracts or hepatomegaly. Three disease-causing variants in homozygous state were detected in the EPG5 gene: two novel c.1652C>T and c.7557+2T>C forms; and one previously reported c.7447C>T. The patient, who was homozygous for the c.1652C>T mutation, presented with neonatal onset seizures that had not been reported previously. Discussion/Conclusion: The present study provides data for the evaluation of the natural history and genotype-phenotype correlations for treatment options that are expected to be available in the future.
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Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.
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Anemia Hemolítica Congênita não Esferocítica , Íntrons , Piruvato Quinase , Erros Inatos do Metabolismo dos Piruvatos , Humanos , Piruvato Quinase/deficiência , Piruvato Quinase/genética , Masculino , Feminino , Erros Inatos do Metabolismo dos Piruvatos/genética , Criança , Pré-Escolar , Anemia Hemolítica Congênita não Esferocítica/genética , Turquia , Lactente , Adolescente , MutaçãoRESUMO
Diabetic retinopathy is a commonly observed cause of blindness and is a common problem in individuals with diabetes. Recent investigations have showed the capability of serum α-Klotho and FGF 23 in mitigating the effects of diabetic retinopathy. This study aimed to discover the correlation between FGF 23, α-Klotho, and diabetic retinopathy in type 1 diabetics. This case-control study included 63 diabetic patients and 66 healthy controls. Following an overnight duration of fasting, morning blood samples were taken from both the patient and the control groups. The serum concentrations of α-Klotho and FGF 23 were quantified. An experienced ophthalmologist inspected the retinopathy. All participants in this study have moderate non-proliferative retinopathy. A p value under 0.05 was considered statistically significant. The mean α-Klotho level for retinopathic diabetic patients was 501.7 ± 172.2 pg/mL and 579.6 ± 312.1 pg/mL for non-retinopathic diabetic patients. In comparison, α-Klotho level of the control group was 523.2 ± 265.4 pg/mL (p = 0.531). The mean of FGF 23 level did not demonstrate a significant difference (p = 0.259). The mean FGF 23 level were 75.7 ± 14.0 pg/mL, 74.0 ± 14.8 pg/mL and 79.3 ± 14.4 pg/mL in groups, respectively. In conclusion, there was no significant difference in FGF 23 and α-Klotho levels between type 1 diabetics with and without retinopathy when compared to the control group.
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Diabetes Mellitus Tipo 1 , Retinopatia Diabética , Fator de Crescimento de Fibroblastos 23 , Proteínas Klotho , Humanos , Estudos de Casos e Controles , Diabetes Mellitus Tipo 1/complicações , Retinopatia Diabética/etiologia , Fator de Crescimento de Fibroblastos 23/sangue , Fator de Crescimento de Fibroblastos 23/química , Fatores de Crescimento de Fibroblastos/metabolismo , Glucuronidase , Proteínas Klotho/sangue , Proteínas Klotho/químicaRESUMO
AIM: This scoping review aims to explore the effect of FSS and mental simulation on the decision-making skills of nursing students. BACKGROUND: Full-scale simulation (FSS) has been the most used simulation modality in nursing education due to its applicability to enhance both technical and non-technical skills. However, FSS can be excessively costly and other factors such as technophobia and lack of trained staff and support make FSS less accessible, especially for nursing education. Therefore, a novel mental simulation that is interactive and supported by visual elements can be a substitute for FSS, at least for some of the skills, such as clinical decision-making. Reviews comparing the effectiveness of FSS and mental simulation on decision-making skills in nursing students are lacking. Further knowledge on the effectiveness of these two modalities on decision-making skills for nursing students is needed to inform the nursing education curriculum and to decide between the two modalities. DESIGN: This protocol adheres to the guidelines outlined in the PRISMA extension for scoping reviews (PRISMA-scr) checklist. METHOD: The methodological framework for scoping reviews will be followed for this scoping review. Scopus, EBSCOhost the Cumulative Index to Nursing and Allied Health Literature (CINAHL), MEDLINE and for the grey literature ERIC and BASE will be searched for related studies. The search will be limited to January 2008 and April 2023 (up-to-date) and English. A detailed search strategy was developed with an experienced research information manager and this strategy will be adapted to each database. A single screening will be performed by an author who will screen all abstracts and titles and full-text publications. After the study selection step of the framework, the data from the included studies will be charted using a data extraction form. The data will be synthesised by comparing the effect of FSS and mental simulation on decision-making skills. CONCLUSION: A synopsis of the publication on FSS and mental simulation on nurse students' decision-making skills will be useful for stakeholders when choosing between two modalities to deliver decision-making skills to nursing students and also help to inform the nursing education and simulation practice. SCOPING REVIEW REGISTRATION: Protocols.io (doi: 10.17504/protocols.io.e6nvw57y7vmk/v1).
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Bacharelado em Enfermagem , Educação em Enfermagem , Estudantes de Enfermagem , Humanos , Educação em Enfermagem/métodos , Currículo , Atenção à Saúde , Revisões Sistemáticas como AssuntoRESUMO
Until recently, mandibuloacral dysplasia (MAD) with type A and type B lipodystrophy was the first to come to mind in the association of mandibular hypoplasia, lipodystrophy, and acro-osteolysis. However, it has recently been added to the differential diagnosis of MAD, a newly defined syndrome, called MDPS. MDPS is a skeletal dysplasia characterized by postnatal growth retardation, hypotonia, generalized lipodystrophy, skin changes, progeroid traits, and dysmorphic facial features, including prominent eyes, long pinched nose, mandibular hypoplasia, and a small mouth. Biallelic null variants of the MTX2 gene are responsible for this syndrome. We performed whole-exome sequencing (WES) in a 6-year-old patient with skeletal dysplasia. WES revealed a novel homozygous c.543+1G>T splice site variant in the MTX2 gene. We also extracted total RNA from peripheral blood and used reverse transcription-polymerase chain reaction to generate cDNA. Sanger sequencing from cDNA showed that exon 8 of MTX2 was skipped. This study adds to the genetics and phenotype of MDPS and underlines the importance of comprehensive clinical and molecular research.
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Acro-Osteólise , Lipodistrofia , Micrognatismo , Humanos , Mutação , Lipodistrofia/diagnóstico , Lipodistrofia/genética , Acro-Osteólise/genética , Homozigoto , Éxons/genética , Micrognatismo/genética , SíndromeRESUMO
BACKGROUND AND AIMS: Post-dural puncture headache is seen more frequently in pregnant women due to stress, dehydration, intra-abdominal pressure, and insufficient fluid replacement after delivery. Obesity protects against post-dural puncture headache in pregnant women; increased intra-abdominal fat tissue reduced cerebrospinal fluid leakage by increasing the pressure in the epidural space. Therefore, this study investigated the influence of body mass index on post-dural puncture headache in elective cesarean section patients in whom 27G spinal needles were used. MATERIAL AND METHODS: The study included 464 women who underwent elective cesarean section under spinal anesthesia. Dural puncture performed with a 27G Quincke spinal needle at the L3-4 or L4-5 intervertebral space and given 12.5 mg hyperbaric bupivacaine intrathecally. The patients were questioned regarding headache and low back pain 6, 12, 24, and 48 h after the procedure, and by phone calls on days 3 and 7. RESULTS: Post-dural puncture headache developed in 38 (8.2%) patients. Of the patients who developed post-dural puncture headache, 23 (60.5%) had a body mass index <30 and 15 (39.5%) had a body mass index ≥30. Of the patients who did not develop post-dural puncture headache, 258 (60, 6%) had a body mass index <30 and 168 (39, 4%) had a body mass index ≥30. CONCLUSION: This prospective study found the body mass index values did not affect post-dural puncture headache in the elective cesarean section performed under spinal anesthesia.
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Predicting treatment failure and switching effective treatment immediately in patients with multiple sclerosis (MS) is important. We aimed to evaluate the usefulness of Modified Rio score (MRS) in predicting treatment failure in MS patients. This is a retrospective study, which was conducted in two University Hospital. 129 MS patients treated with Interferon or glatiramer-acetate from 2 clinical sites, were retrospectively selected. MRS was calculated after the first year of therapy. Treatment failure was defined as the presence of a 1 point increase in EDSS, 2 clinical attacks, 1 clinical attack and progression, 1 clinical attack and new lesion on MRI except associated with an attack, or new lesion in 2 different MRI taken at least 3 months apart. The sensitivity, specificity, positive and negative predictive values of the MRS in predicting treatment failure were determined. 71 (55%) patients with score '0', 41 (31.8%) patients with score '1', 11 (8.5%) patients with score '2', 6 (4.7%) patients with score '3' were detected. 14 patients needed treatment switching during the first three years of the treatment. Sensitivity was 57%, specificity was 92%, positive predictive value was 95%, negative predictive value was 47% and accuracy was 89%. Modified Rio score (MRS) was found to be effective in determining the treatment failure as mentioned before. This study will be useful for clinicians who evaluate the treatment failure like us, and this study revealed that the MRS may also help predict treatment failure.
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Progressão da Doença , Acetato de Glatiramer/uso terapêutico , Interferon beta-1a/uso terapêutico , Esclerose Múltipla Recidivante-Remitente/diagnóstico por imagem , Esclerose Múltipla Recidivante-Remitente/tratamento farmacológico , Falha de Tratamento , Adjuvantes Imunológicos/uso terapêutico , Adolescente , Adulto , Feminino , Humanos , Imunossupressores/uso terapêutico , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
AIM: The aim of this study was to examine the effects of simultaneous epiduroscopic laser neural disc decompression (ELND) and percutaneous laser disc decompression (PLDD) applications using a holmium:yttrium-aluminum-garnet (Ho:YAG) laser in Michigan State University (MSU) classification 3AB herniated discs on VAS and Oswestry Disability Index (ODI) scores. METHODS: In this prospective observational study, ELND and PLDD procedures performed between January 2016 and December 2017 were examined. Preoperative, postoperative week 2, postoperative month 2, and postoperative month 6 ODI and VAS scores were obtained from patient files, and postoperative month 12 ODI and VAS scores were obtained from face-to-face interviews with patients and recorded. RESULTS: The data of 41 patients treated with simultaneous ELND and PLDD using a Ho:YAG laser were included in this study. Postoperative VAS scores of the patients were compared with preoperative values, and it was found that postoperative week 2, postoperative month 2, postoperative month 6, and postoperative month 12 VAS and ODI scores were significantly different compared to preoperative scores (P = 0.001; P < 0.01). 17.1% (n = 7) of the patients had a history of postoperative open surgery. Although dural puncture occurred in 7 patients (17%), only 1 patient had headache. CONCLUSION: We believe that the new combined technique of ELND and PLDD using a Ho:YAG laser is a reliable method in patients with MSU classification 3AB herniated discs, with an acceptable success rate and a low complication rate within 12 months after treatment. We think that randomized controlled studies are required for this method to be included in treatment algorithms.
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Descompressão Cirúrgica/métodos , Deslocamento do Disco Intervertebral/cirurgia , Terapia a Laser/métodos , Procedimentos Neurocirúrgicos/métodos , Adulto , Idoso , Descompressão Cirúrgica/instrumentação , Feminino , Humanos , Lasers de Estado Sólido , Vértebras Lombares/cirurgia , Masculino , Michigan , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos/instrumentação , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Procedimentos Neurocirúrgicos/instrumentação , Estudos ProspectivosRESUMO
AIMS: The aim of the study is comparing the psychiatric symptom in Type1 DM, Type 2 DM and controls. METHODS: The study was designed as case control study and conducted between September 2011 and April 2012 to the Diabetes Clinic. Age, gender and education level matched 70 type 1 diabetics, 68 type 2 diabetics and 70 controls included to the study. SCL-90-R [Symptom Check List-90 (Revised)] test is used for determining the psychiatric symptom rates. RESULTS: It was found that the rate of somatization, interpersonal sensitivity, anger-hostility and additional scales were significantly different in type 1, type 2 diabetics and controls ((pâ¯=â¯0.023, pâ¯=â¯0.008, pâ¯=â¯0.018 and pâ¯=â¯0.039, respectively). Compared to control group, being a patient with type 1 or type 2 Diabetes found as a risk factor for somatization, depression, anger-hostility and additional scales. Moreover being a patient with type 1 DM was found as a risk factor for having OBS symptoms (pâ¯=â¯0.039) and type 1 DM was protective against having interpersonal sensitivity symptoms (pâ¯=â¯0.006). CONCLUSION: In diabetic patient groups, an increase in the rate of psychiatric symptoms was observed. Therefore a careful psychiatric examination is required in DM.
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Ira , Transtornos de Ansiedade/diagnóstico , Transtorno Depressivo/diagnóstico , Diabetes Mellitus Tipo 1/psicologia , Diabetes Mellitus Tipo 2/psicologia , Adulto , Transtornos de Ansiedade/etiologia , Estudos de Casos e Controles , Transtorno Depressivo/etiologia , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 2/complicações , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Escalas de Graduação Psiquiátrica , Fatores de Risco , Adulto JovemRESUMO
INTRODUCTION: Vitamin D was associated with the pathogenesis, treatment and prognosis of type 1 and type 2 diabetes mellitus. The aim of this study is to assess vitamin D status of Turkish adult type 1 DM patients and compare them with health controls and also to assess the relationship of vitamin D and glycemic control. METHOD: Study was designed as cross-sectional and conducted in a tertiary Hospital diabetes unit. 296 type diabetic patients and 151 healthy controls was included to the study. Venous samples were collected into plain tubes after overnight fasting. Serum 25-hydroxyvitamin D level was measured by radioimmunoassay technique. Statistical analysis was performed with SPSS 15.0. RESULTS: 25-Hydroxyvitamin D levels were similar between patients with type 1 diabetes (22, 9⯱â¯17, 4â¯ng/ml) and controls (24, 5⯱â¯19, 3â¯ng/ml) (pâ¯=â¯0,382). Most of the participants have 25-Hydroxyvitamin D deficiency. As shown in Table 2 serum 25-Hydroxyvitamin D level was not associated with most of the biochemical or anthropometric parameters. CONCLUSION: As a result there were no difference between type 1 diabetics and healthy controls according to their vitamin D levels. Further studies with a larger sample of patients will improve our understanding of the relation of vitamin D and diabetes.
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Biomarcadores/sangue , Diabetes Mellitus Tipo 1/sangue , Deficiência de Vitamina D/sangue , Vitamina D/sangue , Vitaminas/sangue , Adulto , Estudos de Casos e Controles , Estudos Transversais , Diabetes Mellitus Tipo 1/epidemiologia , Feminino , Seguimentos , Humanos , Incidência , Masculino , Prognóstico , Turquia/epidemiologia , Deficiência de Vitamina D/fisiopatologiaRESUMO
Schizophrenia (SCH) and drug addiction are chronic disorders that are frequently accompanied by physical diseases, poor nutrition and reduced self-care, all of which are likely to result in vitamin deficiencies. The objective of this study was to compare vitamin levels in SCH patients, substance use disorder (SUD) patients and healthy controls (HCs). The study included 189 SCH patients, 119 SUD patients and 109 HCs. Information on vitamin B12, folic acid and vitamin D levels were retrieved from the hospital's database, and mean values and deficiency/insufficiency were evaluated. Vitamin D deficiency (<30â¯ng/ml) was more common in the SCH group than in the SUD and HC groups (88.4%, 74.8% and 86.4%, respectively). Although there were no significant differences in folic acid deficiency (<3.0â¯ng/ml) in the SUD and SCH groups (15.1% and 8.5%, respectively), the incidence of folic acid deficiency was significantly higher in both groups as compared with that in the HC group (5.8%). Significantly higher numbers of patients in the SCH group than in the SUD group had vitamin B12 deficiency (45.5% vs. 28.3%). The prevalence of vitamin B12 deficiency in the SUD group was significantly higher than that the HC group (28.3% vs.11.5%). As compared with the HC group, vitamin D and B12 levels were significantly lower in SCH group, and folic acid and B12 levels were significantly lower in the SUD group. Several vitamin deficiencies appear to be common in both SCH and SUD. Possible reasons should be investigated.
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Deficiência de Ácido Fólico/epidemiologia , Esquizofrenia/sangue , Transtornos Relacionados ao Uso de Substâncias/sangue , Deficiência de Vitamina B 12/epidemiologia , Deficiência de Vitamina D/epidemiologia , Adulto , Feminino , Ácido Fólico/sangue , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prevalência , Vitamina B 12/sangue , Vitamina D/sangueRESUMO
PURPOSE: To investigate the soluble Klotho (sKlotho) and fibroblast growth factor-23 (FGF-23) levels and echocardiographic findings in type 1 diabetic patients with no or early diabetic nephropathy. METHODS: A total of 147 subjects (mean age 34.1 ± 9.2 years, 55.8 % were females) including type 1 diabetic patients with glomerular filtration rate (GFR) >60 ml/min (n = 71, mean age 34.3 ± 9.5 years, 54.9 % were females) and healthy controls (n = 76, mean age 33.9 ± 9.1 years, 56.6 % were females) were included in this study. Data on demographic characteristics, blood biochemistry, urinalysis, diabetes-related complications and echocardiography were recorded. Serum levels for sKlotho and FGF-23 were determined by ELISA method. RESULTS: Patient and control groups were similar in terms of mean sKlotho (509.2 ± 183.5 and 547.6 ± 424.0 pg/ml, respectively) and FGF-23 (76.2 ± 15.6 and 77.2 ± 15.1 pg/ml, respectively) levels as well as echocardiographic findings. No significant correlation of sKlotho (pg/ml) and FGF-23 (pg/ml) levels with cardiac parameters was noted among diabetic patients. In subgroup analysis, the correlations between FGF-23 levels and isovolumic relaxation time (ms) and early diastolic velocity at medial/septal annulus (E'med) (m/s) were significant only in patients with early diabetic nephropathy (DN) but not in non-DN patients. No significant association of sKlotho levels with echocardiographic findings was noted. CONCLUSIONS: Our findings in young adult type 1 diabetic patients with GFR >60 ml/min versus healthy controls revealed no difference between groups in terms of sKlotho and FGF-23 levels and echocardiographic findings, while a significant correlation of FGF-23 (pg/ml) levels and diastolic dysfunction was noted only in patients with DN.
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Diabetes Mellitus Tipo 1/complicações , Nefropatias Diabéticas/complicações , Fatores de Crescimento de Fibroblastos/metabolismo , Taxa de Filtração Glomerular/fisiologia , Proteínas de Membrana/metabolismo , Disfunção Ventricular Esquerda/metabolismo , Adulto , Biomarcadores/metabolismo , Diabetes Mellitus Tipo 1/metabolismo , Nefropatias Diabéticas/metabolismo , Diástole , Progressão da Doença , Ecocardiografia , Ensaio de Imunoadsorção Enzimática , Feminino , Fator de Crescimento de Fibroblastos 23 , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/fisiopatologia , Humanos , Proteínas Klotho , Masculino , Disfunção Ventricular Esquerda/etiologia , Disfunção Ventricular Esquerda/fisiopatologiaRESUMO
BACKGROUND: The Klotho gene, described as an "aging suppressor" gene, encodes a single-pass transmembrane protein. The extracellular part of Klotho is cleaved and released into the circulation where it may function as a vasculoprotective hormone. Coronary flow reserve (CFR) is accepted as a marker of coronary microvascular dysfunction when epicardial coronary stenosis is absent. There are no data regarding the relationship between serum Klotho levels and disorders in coronary microcirculation in healthy adults. We aimed to investigate the association between serum Klotho levels and alterations in coronary microcirculation in healthy adults using echocardiographic measurements of CFR. METHODS: Thirty-four healthy volunteers (median age: 34 [27-39], 14 males) were enrolled in this study. The study population was divided into two subgroups according to the median value of serum Klotho levels: a high Klotho (HK) group (n = 17, median age: 34 [30-38]; 6 males) and a low Klotho (LK) group (n = 17, median age: 32 [26-39]; 8 males). The analysis of coronary flow velocities was performed by transthoracic Doppler echocardiography. RESULTS: Hyperemic diastolic peak flow velocities and CFR were significantly higher in the HK group than in the LK group (70 [66-92] versus 61 [47-66], P = 0.003 and 3.0 [2.6-3.8] versus 2.2 [1.7-2.8], respectively, P = 0.001). Serum Klotho levels were positively correlated with CFR (P < 0.001). CONCLUSION: Serum Klotho levels correlate with CFR in a healthy population. Low serum Klotho levels may potentially identify patients with impaired CFR.
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Doença da Artéria Coronariana/sangue , Doença da Artéria Coronariana/diagnóstico por imagem , Reserva Fracionada de Fluxo Miocárdico , Glucuronidase/sangue , Microvasos/diagnóstico por imagem , Microvasos/fisiopatologia , Adulto , Biomarcadores/sangue , Velocidade do Fluxo Sanguíneo , Circulação Coronária , Ecocardiografia/métodos , Feminino , Humanos , Proteínas Klotho , Masculino , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
The correlation between ABO/Rh blood groups and diabetes mellitus is still controversial. The aim of this study was to determine the relationship between ABO/Rhesus blood groups and diabetes in Turkish population. This cross-sectional study was conducted in Istanbul Medeniyet University Göztepe Education and Training Hospital's Diabetes Units. The study group was composed of 421 patients with type-1 diabetes, 484 patients with type-2 diabetes and 432 controls. Blood samples were collected and tested for ABO/Rhesus blood groups. Data was analyzed by SPSS version 17.0. A significant association was found between blood groups and diabetes mellitus. The frequency of AB blood group was significantly higher in type-1 diabetics; and A blood group was significantly higher in type-2 diabetics. Furthermore, Rh negativity were significantly more frequent in type-2 diabetics.
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Sistema ABO de Grupos Sanguíneos/sangue , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/epidemiologia , Sistema do Grupo Sanguíneo Rh-Hr/sangue , Adulto , Idoso , Tipagem e Reações Cruzadas Sanguíneas , Estudos de Casos e Controles , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Turquia/epidemiologiaRESUMO
OBJECTIVE: Klotho deficiency is associated with several metabolic disorders. Two dimensional (2D) longitudinal strain (LS) of left ventricle (LV), carotid artery intima-media thickness (CIMT), flow-mediated dilation (FMD) of brachial artery and epicardial fat thickness (EFT) have been reported to be early predictors of atherosclerosis. We aimed to investigate the relationship between serum Klotho levels and these early predictors of atherosclerosis in patients with type 1 diabetes mellitus (DM). METHODS: The study included 45 type 1 diabetic patients and 35 controls. Serum Klotho levels were determined by ELISA method. The patient group was also divided into two subgroups according to serum Klotho levels: high (HK) and low Klotho (LK) groups. EFT, CIMT and FMD were measured according to appropriate recommendations. Speckle tracking analysis was performed using the Echopac software. RESULTS: The patient group had significantly lower serum Klotho (p=0.001), FMD (p<0.001) and LS of LV (p<0.001) values, but larger EFT (p<0.001) and CIMT (p<0.001) values than controls. LK subgroup had also significantly lower FMD (p<0.001) and LS of LV (p<0.001) but larger EFT (p=0.002) and CIMT (p<0.001) values than HK subgroup. CONCLUSION: Serum Klotho may have a protective effect against atherosclerosis and endothelial dysfunction in type 1 DM.
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Aterosclerose/prevenção & controle , Diabetes Mellitus Tipo 1/terapia , Angiopatias Diabéticas/prevenção & controle , Regulação para Baixo , Glucuronidase/sangue , Adiposidade , Adulto , Aterosclerose/complicações , Aterosclerose/diagnóstico por imagem , Aterosclerose/epidemiologia , Biomarcadores/sangue , Artéria Braquial/fisiopatologia , Espessura Intima-Media Carotídea , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/fisiopatologia , Angiopatias Diabéticas/diagnóstico por imagem , Angiopatias Diabéticas/epidemiologia , Endotélio Vascular/diagnóstico por imagem , Endotélio Vascular/fisiopatologia , Feminino , Seguimentos , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/fisiopatologia , Humanos , Proteínas Klotho , Masculino , Ambulatório Hospitalar , Pericárdio , Fluxo Sanguíneo Regional , Fatores de RiscoRESUMO
OBJECTIVES: Celiac disease, an autoimmune disease, is related to immune mediated intolerance to gluten. Some studies suggest that Celiac Disease was 20 times more frequent in type 1 patients with diabetes. The objective of our study was to evaluate the prevalence of celiac disease in hospital based type 1 diabetic adults. METHODS: Our study was carried out retrospectively in Medeniyet University Goztepe Training and Educational Hospital in Istanbul between 2012-2013. The cohort comprised 482 type 1 patients with diabetes attending the diabetes outpatient clinic. The data were analyzed by SPSS 10.5 package program. Student's t tests is used for comparative analyses. A p-value less than 0.05 was considered statistically significant. RESULTS: The cohort included 482 type 1 patients with diabetes. Fifty seven of them were not evaluated for Endomysium antibody positivity. Fifteen of the remaining 425 patients were positive for anti endomysial antibody (3.5%). The prevalence of biopsy proven celiac disease was 2.3% (10/425). There was no significant difference between Endomysial antibody positive and negative groups in regard of age, sex, or duration of the disease. CONCLUSION: This study confirms that the celiac disease is common in type 1 diabetic patients. Since a small proportion of celiac patients are symptomatic this disorder should be screened in all adult type 1 patients with diabetes by antiendomysium antibody.
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The Klotho gene, identified as an 'aging suppressor' gene, encodes a single-pass transmembrane protein. The extracellular domain of Klotho is cleaved and released in the blood stream, where it may function as a vasculoprotective hormone. Carotid artery intima-media thickness (CIMT), flow-mediated dilation (FMD) of the brachial artery and epicardial fat thickness (EFT) have been reported as early predictors of atherosclerosis. We aimed to investigate the relationship between serum Klotho levels and early atherosclerotic predictors, including EFT, FMD and CIMT in healthy adults. Fifty healthy volunteers were enrolled in this study, consisting of 21 males and 29 females with median age of 32 years. They were free of known risk factors for cardiovascular diseases. Serum Klotho levels were determined by the ELISA method. The study population was divided into two groups (n = 25 for each) according to the median serum Klotho level (459.4 pg/mL): higher Klotho (HK) group (613.6 pg/mL; ranges of 501.2-772.6 pg/mL) and lower Klotho (LK) group (338.7 pg/mL; ranges of 278.8-430.3 pg/mL). EFT was measured by transthoracic echocardiography, and CIMT and FMD were measured with standard procedures. The LK group showed lower values of FMD (p = 0.012) and larger values of EFT (p = 0.01) and CIMT (p < 0.001), compared to the HK group. Thus, the low serum Klotho levels were associated with increased EFT and CIMT and with the decreased FMD in the study population. We propose that the lower serum Klotho level is a newly identified predictor of atherosclerosis.
Assuntos
Aterosclerose/sangue , Biomarcadores/sangue , Glucuronidase/sangue , Adulto , Artéria Braquial/patologia , Espessura Intima-Media Carotídea , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Proteínas Klotho , Masculino , Pericárdio/patologia , Valor Preditivo dos Testes , Fatores de Risco , VasodilataçãoRESUMO
Dental pulp stem cells were primarily derived from the pulp tissues of exfoliated deciduous teeth, primary incisors and permanent third molar teeth. The aim of this study was to isolate and extensively characterise SCs derived from human natal dental pulp (hNDP). For characterisation, proliferation capacity, phenotypic properties, ultrastructural and differentiation characteristics and gene expression profiles were utilised. A comparison was done between the properties of NDP-SCs and the properties of mesenchymal stem cells (MSCs) from bone marrow (BM) of the human. Stem cells isolated from hNDP and hBM were analysed by flow cytometry, reverse transcriptase-PCR, Real Time-PCR, and immunocytochemistry. Both cell lines were directionally differentiated towards adipogenic, osteogenic chondrogenic, myogenic and neurogenic lineages. hNDP-SCs and hBM-MSCs expressed CD13, CD44, CD90, CD146 and CD166, but not CD3, CD8, CD11b, CD14, CD15, CD19, CD33, CD34, CD45, CD117, and HLA-DR. Ultrastructural characteristics of hNDP-SCs showed more developed and metabolically active cells. hNDP-SCs and hBM-MSCs expressed some adipogenic (leptin, adipophilin and PPARgamma), myogenic (desmin, myogenin, myosinIIa, and alpha-SMA), neurogenic (gamma-enolase, MAP2a,b, c-fos, nestin, NF-H, NF-L, GFAP and betaIII tubulin), osteogenic (osteonectin, osteocalcin, osteopontin, Runx-2, and type I collagen) and chondrogenic (type II collagen, SOX9) markers without any stimulation towards differentiation under basal conditions. Embryonic stem cell markers Oct4, Rex-1, FoxD-3, Sox2, and Nanog were also identified. The differentiation potential of hNDP-SCs and hBM-MSCs to adipogenic, osteogenic, chondrogenic, myogenic and neurogenic was shown. This report described the first successful isolation and characterisation of hNDP-SCs.
Assuntos
Polpa Dentária/citologia , Dentes Natais/citologia , Células-Tronco/citologia , Diferenciação Celular , Proliferação de Células , Sobrevivência Celular , Células Cultivadas , Polpa Dentária/ultraestrutura , Citometria de Fluxo , Humanos , Imuno-Histoquímica , Microscopia Eletrônica , Dentes Natais/ultraestrutura , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Células-Tronco/ultraestruturaRESUMO
Abacavir (I), a drug used in the treatment of HIV, is electrochemically reduced at the dropping mercury electrode in a four-electron process, similar to structurally related adenine (III) and adenosine triphosphate (IV). To undergo the reduction, the species is protonated in the vicinity of the electrode. The protonations take place on the 6-amino group and on one of the pyrimidine ring nitrogens. The role of covalent hydration of the pyrymidine ring has been interpreted. Best suited as supporting electrolytes for analytical purposes are solutions of 0.1-1.0 M sulfuric, perchloric, or hydrochloric acids. Procedures of analyses of tablets containing I were established and validated, based on peak currents obtained by linear sweep, differential pulse, or square-wave voltammetry with a hanging mercury drop electrode as indicator electrode. The procedure proved to be more sensitive and more reliable than that based on oxidation on a glassy carbon electrode, proposed previously.