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1.
J Med Virol ; 95(2): e28457, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36597901

RESUMEN

Thrombotic and microangiopathic effects have been reported in COVID-19 patients. This study examined the contribution of the hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes to the severity of COVID-19 disease and the development of thrombosis. This study investigated FII and FVL alleles in a cohort of 9508 patients (2606 male and 6902 female) with thrombophilia. It was observed that 930 of these patients had been infected by SARS-CoV-2 causing COVID-19. The demographic characteristics of the patients and their COVID-19 medical history were recorded. Detailed clinical manifestations were analyzed in a group of cases (n = 4092). This subgroup was age and gender-matched. FII and FVL frequency data of healthy populations without thrombophilia risk were obtained from Bursa Uludag University Medical Genetic Department's Exome Databank. The ratio of males (31.08%; 27.01%) and the mean age (36.85 ± 15.20; 33.89 ± 14.14) were higher among COVID-19 patients compared to non-COVID-19 patients. The prevalence of FVL and computerized tomography (CT) positivity in COVID-19 patients was statistically significant in the thrombotic subgroup (p < 0.05). FVL prevalence, CT positivity rate, history of thrombosis, and pulmonary thromboembolism complication were found to be higher in deceased COVID-19 patients (p < 0.05). Disease severity was mainly affected by FVL and not related to genotypes at the Prothrombin mutations. Overall, disease severity and development of thrombosis in COVID-19 are mainly affected by the variation within the FVL gene. Possible FVL mutation should be investigated in COVID-19 patients and appropriate treatment should be started earlier in FVL-positive patients.


Asunto(s)
COVID-19 , Trombofilia , Trombosis , Humanos , Masculino , Femenino , Protrombina/genética , Factores de Riesgo , SARS-CoV-2 , Genotipo , Factor V/genética , Trombofilia/epidemiología , Trombofilia/genética , Gravedad del Paciente , Mutación
2.
Turk J Med Sci ; 53(5): 1489-1497, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38813039

RESUMEN

Background/aim: To explore the dermatological lesions associated with chronic pruritus in patients who were followed up at our clinic for type 1 and type 2 diabetes mellitus (DM). Materials and methods: The study population consisted of 249 patients with DM, who presented to the endocrinology clinic at Ankara University Faculty of Medicine between January 2022, and March 2022, regardless of whether they had reported experiencing pruritus symptoms. The visual analog scale and 5-D itch scale were used to determine the severity of itching in patients. Dermatological examination findings were also evaluated. Results: Of the 249 patients with DM, mean duration since diabetes was diagnosed was 12 ± 9.2 [median 10 (0.3-46)] years, and the mean HbA1c levels were 8.1% ± 2.1%. Pruritus was detected in 77 (30.9%) patients and the mean duration of diabetes diagnosis was 13.4 ± 9.7 years. Examination of the microvascular and macrovascular complications showed that the incidence of retinopathy, nephropathy, neuropathy and peripheral arterial disease was 31.2% (p = 0.003), 31.2% (p = 0.005), 66.2% (p < 0.001) and 10.4% (p = 0.038), respectively, in the group with pruritus. These incidences were significantly higher in the group with pruritus than in those without pruritus. Dermatological examination showed that the most common condition was xerosis (64%), followed by fungal skin infection (16%) and bullous pemphigoid (8%). No skin findings were noted in 7% of patients who complained of itching. Conclusion: Chronic pruritus may be associated with several factors such as poor glycemic control, high BMI and microvascular and macrovascular complications in patients with DM. Especially in patients with severe generalized pruritus who do not respond to standard antipruritic treatments, the use of DPP-4 inhibitors, a class of oral antidiabetic agents, should be questioned and all medications being used by the patient should be reviewed.


Asunto(s)
Diabetes Mellitus Tipo 2 , Prurito , Humanos , Prurito/epidemiología , Prurito/etiología , Femenino , Masculino , Persona de Mediana Edad , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/epidemiología , Anciano , Enfermedad Crónica , Adulto , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/epidemiología , Enfermedades de la Piel/epidemiología , Enfermedades de la Piel/complicaciones , Piel/patología
3.
Funct Integr Genomics ; 22(3): 291-315, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35098403

RESUMEN

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.


Asunto(s)
Fiebre Mediterránea Familiar , Pirina , Fiebre Mediterránea Familiar/epidemiología , Fiebre Mediterránea Familiar/genética , Genética de Población , Genotipo , Humanos , Mutación , Fenotipo , Pirina/genética , Turquía/epidemiología
4.
J Med Virol ; 94(11): 5225-5243, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35811452

RESUMEN

Heterogeneity in symptoms associated with COVID-19 in infected patients remains unclear. ACE2 and TMPRSS2 gene variants are considered possible risk factors for COVID-19. In this study, a retrospective comparative genome analysis of the ACE2 and TMPRSS2 variants from 946 whole-exome sequencing data was conducted. Allele frequencies of all variants were calculated and filtered to remove variants with allele frequencies lower than 0.003 and to prioritize functional coding variants. The majority of detected variants were intronic, only two ACE2 and three TMPRSS2 nonsynonymous variants were detected in the analyzed cohort. The main ACE2 variants that putatively have a protective or susceptibility effect on SARS-CoV-2 have not yet been determined in the Turkish population. The Turkish genetic makeup likely lacks any ACE2 variant that increases susceptibility to SARS-CoV-2 infection. TMPRSS2 rs75603675 and rs12329760 variants that were previously defined as common variants that have different allele frequencies among populations and may have a role in SARS-CoV-2 attachment to host cells were determined in the population. Overall, these data will contribute to the formation of a national variation database and may also contribute to further studies of ACE2 and TMPRSS2 in the Turkish population and differences in SARS-CoV-2 infection among other populations.


Asunto(s)
Enzima Convertidora de Angiotensina 2/metabolismo , COVID-19 , SARS-CoV-2 , Enzima Convertidora de Angiotensina 2/genética , COVID-19/epidemiología , COVID-19/genética , Humanos , Peptidil-Dipeptidasa A/genética , Estudios Retrospectivos , Factores de Riesgo , SARS-CoV-2/genética , Serina Endopeptidasas/genética , Secuenciación del Exoma
5.
Horm Metab Res ; 54(10): 658-663, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36055278

RESUMEN

We aimed to evaluate the predictive ability of serum thyroglobulin (Tg) levels on the localization of the metastatic lymph node compartments in locoregional metastases of papillary thyroid cancer (PTC). This retrospective study included 143 patients who underwent neck dissections for a total of 172 for persistent/recurrent locoregional PTC. They were grouped according to the localization of lymph node metastasis (LNM): Central (C-LNM), Lateral (L-LNM), both central and lateral LNM (C+L LNM). To confirm that the Tg cutoff discriminated LNM localizations, the sample was categorized as suppressed (<0.1 mU/l) or non-suppressed (>0.1 mU/l) according to TSH and ROC analysis. Mixed-effects models were used to investigate the effect of LNM localization on Tg levels and to eliminate the confounding effects of TSH, tumor burden (defined as the number and the largest diameter of LNM), and RAI. Mean Tg levels were 1.43 µg/l for C-LNM (n=47), 3.7 µg/l for L-LNM (n=99), and 8.60 µg/l for C+L LNM (n=26). Independent of TSH, tumor burden and RAI, the mean Tg levels of L-LNM and C+L LNM groups were not significantly different, while that of C-LNM was significantly lower than those of L-LNM and C+L LNM. To discriminate C-LNM from L-LNM and C+L LNM in patients with TSH>0.1 mU/l, the optimal cutoff for Tg was 1.05 µg/l (sensitivity=74.7%, specificity=70.4%, PPV=87.7%). L-LNM increases serum Tg levels more than C-LNM in persistent/recurrent locoregional nodal disease of PTC. Tg above 1.05 µg/l may indicate lateral LNM. Tg may be an important marker for the localization of LNM in the neck.


Asunto(s)
Carcinoma Papilar , Neoplasias de la Tiroides , Carcinoma Papilar/cirugía , Humanos , Metástasis Linfática , Recurrencia Local de Neoplasia/patología , Estudios Retrospectivos , Tiroglobulina , Cáncer Papilar Tiroideo , Neoplasias de la Tiroides/patología , Tiroidectomía , Tirotropina
6.
Chem Biodivers ; 19(10): e202200659, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36111652

RESUMEN

The aim of this study was to isolate the cytotoxic compounds from V. alliariifolia via activity-guided isolation and to determine the mechanism of actions of the most potent ones. The crude EtOH extract as well as CHCl3 and AcOEt subextracts demonstrated remarkable cytotoxic activities against A549, MCF7, HGC27 and PC3 cancer cells. Sequential chromatographic separations on active subextracts yielded 14 secondary metabolites, including 11 iridoids (1-11) most of which belong to non-glycosidic ester iridoids, two phenylpropanoids (12 and 13) and one lignan (14). The chemical structures of purified compounds were elucidated by NMR and MS analysis. Among the isolates, 7-deisovaleroylvaltrate (3) was isolated for the first time as a natural product. According to the cytotoxic assay compounds, 2, 4-6 and 8 were found to be the potent cytotoxic compounds (IC50 <10 µM) against at least one of the tested cancer cell lines. Thus, 2, 4-6 and 8 were investigated for their effects on apoptotic, necrotic and autophagic pathways as well as cell cycle progression. They exerted anticancer activities by inducing different cell death mechanisms depending on the cancer cells. The results demonstrated that 2, 4-6 and 8 could be potential anticancer drug leads that deserve further in vivo and clinical studies on the way to discover novel natural compounds with anticancer properties.


Asunto(s)
Antineoplásicos , Lignanos , Valeriana , Valeriana/química , Iridoides/farmacología , Iridoides/química , Ésteres , Antineoplásicos/farmacología , Antineoplásicos/química , Muerte Celular , Extractos Vegetales/farmacología , Extractos Vegetales/química
7.
Turk J Med Sci ; 51(6): 3061-3066, 2021 12 13.
Artículo en Inglés | MEDLINE | ID: mdl-34519193

RESUMEN

Background/aim: Calcitonin level in fine-needle aspirate washout fluid (Ct-FNA) was extensively studied for thyroid nodules and lymph nodes (LN). However, the data was scarce for neck recurrences/metastases of medullary thyroid cancer (MTC). Thus, the diagnostic accuracy of Ct-FNA and cytology in the detection of neck LN metastases of recurrent MTC cases were assessed. Materials and methods: The database of MTC patients between 2010 and 2021 was retrospectively reviewed. A total of 32 patients with recurrent MTC and suspicious LN who underwent FNA and Ct measurement from washout samples were included in this study. Preoperative serum Ct (sCt), Ct-FNA, Ct-FNA/sCt ratio, cytology data were recorded for all participants. Results: Median sCt of 32 patients and Ct-FNA washout fluid levels of operated suspicious 44 LNs were 723 (54­9000) pg/mL and 1800 (151­9500) pg/mL, respectively. The diagnostic accuracy of Ct-FNA washout fluid was greater than cytology (95.4% vs. 86%, respectively). Using a cut-off level of >638.5 pg/mL, the Ct-FNA predicted the diagnosis of LN metastasis of recurrent MTC with a sensitivity of 80% and specificity of 94.9%. Furthermore, using a cut-off level of >1.16, the Ct-FNA/sCt ratio well predicted the diagnosis of LN metastasis of recurrent MTC with a sensitivity of 92.3% and specificity of 100%. Conclusion: As Ct-FNA has greater diagnostic accuracy in our study, it would be complementary to cytology results to localize metastatic LNs in recurrent MTC. Furthermore, for the first time, we demonstrated that the Ct-FNA/sCt ratio was a better predictor of metastatic LNs in recurrent MTC than a particular cut-off for Ct-FNA alone.


Asunto(s)
Biomarcadores de Tumor/metabolismo , Calcitonina/sangre , Carcinoma Neuroendocrino/patología , Ganglios Linfáticos/metabolismo , Metástasis Linfática/diagnóstico , Recurrencia Local de Neoplasia/diagnóstico , Neoplasias de la Tiroides/patología , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores de Tumor/análisis , Biopsia con Aguja Fina , Líquidos Corporales/metabolismo , Calcitonina/metabolismo , Femenino , Humanos , Ganglios Linfáticos/patología , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/metabolismo , Estudios Retrospectivos
8.
Mol Biol Rep ; 47(3): 1835-1843, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31989427

RESUMEN

Familial Mediterranean fever is an auto inflammatory genetic disease involving especially Turks, Armenians, Arabs and non-Ashkenazi Jews and caused by variants in the MEFV gene. In this study, we aimed to evaluate the distribution and frequency of clinical, MEFV gene variants in FMF patients and the relationship between mutations in different exons and phenotype-genotype and clinical findings. 1028 patients diagnosed as FMF were included. The most common genotypes were M694V / R202Q heterozygous (10.4%), M694V homozygous (7.5%), M694V / E148Q / R202Q heterozygous (4.6%), V726A heterozygous (4.5%), M680I heterozygous (4.2%). c.1611-1 G > C, G152R, S104C, R116S, E336K, R461Q mutations were detected in the literature for the first time in FMF patients. We also divided the patients into 4 groups according to whether the MEFV mutations were exon 10 or non-exon 10. The first group consisted of non-exon 10 homozygous or compound heterozygous (n = 180) patients, Group 2 consisted of exon 10- non-exon 10 compound heterozygous (n = 318) patients, Group 3 consisted of exon 10 homozygous or compound heterozygous (n = 256) patients, while Group 4 consisted of heterozygous (n = 227) patients at any exon. There was no significant difference between the groups in terms of abdominal pain, arthritis, arthralgia, vomiting diarrhea, erysipelas like rash, amyloidosis, renal failure family history. There was no difference in fever between Group 1 (55.6%) and 2 (62.3%); however, these two groups were different from Group 3 (75.8%) and 4 (76.7%). Group 3 (18.8%) had the highest rate of appendectomy. In addition, allele frequencies of all mutations detected in the analyses were compared with allele frequencies of healthy people in the gnomad database. It is useful to analyse all exons in the MEFV gene with the next generation sequence analysis in the detection of FMF disease. S104C, R116S, G152R, E336K, R461Q, L508Q and c.1611-1 G > C mutations are also new variants in literature. c.1611-1 G > C is a possible pathogenic variant.


Asunto(s)
Fiebre Mediterránea Familiar/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Mutación , Pirina/genética , Adolescente , Adulto , Exones , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Humanos , Masculino , Análisis de Secuencia de ADN/métodos , Adulto Joven
9.
Endocr Pract ; 25(10): 1049-1055, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31241359

RESUMEN

Objective: The aim of this study was to assess and compare the diagnostic power of B-mode ultrasonography (US), power Doppler US (PD), and ultrasound elastography (USE) in detecting malignant lymph nodes (LNs) during follow-up of patients who were operated on for differentiated thyroid cancer (DTC). Methods: In this prospective study, a total of 103 cervical LNs having suspicious malignant features from 72 patients with DTC were examined using US, PD, and USE. USE scores were classified from 1 to 3 according to the presence of elasticity (1, soft; 2, intermediate; 3, hard). The strain ratios (SRs) of all LNs were calculated according to adjacent muscle tissue. Results: The most-sensitive ultrasonographic features were hilum loss and hypoechogenicity, with 94.4% and 80.6% sensitivity and 93.5% and 84.4% negative predictive value, respectively. The most-specific feature was the presence of cystic component, with 98.5% specificity and 85.7% positive predictive value. Presence of diffuse/chaotic or irregular vascularity in PD had 47.2% sensitivity and 83.6% specificity in predicting metastasis. In USE, the sensitivity and specificity of score 3 were 56.7% and 74.2%, respectively. The median SR of metastatic LNs was higher than that of benign LNs (median SR [min-max], 3.0 [0.16 and 29] vs. 1.89 [0.26 and 37.9]), but the difference was not significant (P = .07). Multivariate logistic regression analyses revealed 4.9-, 6.6-, and 10-fold increases in metastasis risk for short/long axis ratio ≥0.5, nodal vascularity, and score 3 USE, respectively (P<.05). Conclusion: While USE had higher sensitivity, PD had higher specificity in detecting malignant LNs, but none of these techniques was as sensitive and specific as gray-scale US features. Abbreviations: CI = confidence interval; DTC = differentiated thyroid cancer; LN = lymph node; LN-Tg = lymph node-thyroglobulin; NPV = negative predictive value; PD = power Doppler; PPV = positive predictive value; ROI = region of interest; SR = strain ratio; US = ultrasonography; USE = ultrasound elastography.


Asunto(s)
Diagnóstico por Imagen de Elasticidad , Neoplasias de la Tiroides , Estudios de Seguimiento , Humanos , Ganglios Linfáticos , Metástasis Linfática , Estudios Prospectivos , Ultrasonografía , Ultrasonografía Doppler
10.
Clin Endocrinol (Oxf) ; 89(4): 489-495, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30004132

RESUMEN

INTRODUCTION: Minimally invasive surgery is an alternative surgical approach for primary hyperparathyroidism with less surgical trauma and anaesthesia complications. When combined with intraoperative measurement of parathyroid hormone (PTH), cure rates are exceeding 97%. Preoperative intact PTH determination in washout samples is really very useful when parathyroid lesions cannot be easily distinguished from thyroid lesions or sometimes lymph nodes. Herein, we aimed to report our institutional experience about parathyroid fine-needle aspiration (FNA) method and suggest a cut-off ratio for this purpose. METHODS: In our clinic, we performed ultrasonography (USG)-guided parathyroid FNA procedure for 131 patients diagnosed with primary hyperparathyroidism between January 2005 and January 2016. Both cytologic evaluation and intact PTH determination were performed in washout samples. Eighty-seven of the study group also had a parathyroid scintigraphy. Both demographic features and laboratory results were all recorded. RESULTS: Median serum PTH level was 142 (113-197), while mean PTH washout level was 1824 (0-3953). When three of the localization techniques are compared with each other, FNA-PTH washout group had a better diagnostic accuracy (90.8%) when compared to cytology (7.92%) and MIBI (67.8%) groups. Both MIBI and FNA-PTH washout group had 100% positive predictive value (PPV) and 100% specificity. We found values greater than 436.5 pg/mL for FNA-PTH washout with a sensitivity of 90.3% and specificity of 88.9% (P < 0.01 and AUC 94.3 (87.8-100)) and a cut-off for FNA/serum PTH greater than 3.05 with a sensitivity of 91.2% and specificity of 89% (P = 0.02 and AUC 94.5 (88.8-100)) which implicate parathyroid lesions. CONCLUSION: According to the literature, PTH determination in washout samples has a specificity of 75%-100% and sensitivity of 70%-100%. This approach has better results than both cytology and scintigraphy in case of concomitant multinodular thyroid disease in experienced hands. Although there is not a definite cut-off for PTH levels in washout samples, we agree with the need of ratios rather than cut-offs in this issue.


Asunto(s)
Hormona Paratiroidea/sangre , Neoplasias de las Paratiroides/sangre , Neoplasias de las Paratiroides/diagnóstico , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Glándulas Paratiroides/patología , Curva ROC , Estudios Retrospectivos , Glándula Tiroides/patología
11.
Mol Biol Rep ; 45(4): 541-546, 2018 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-29777458

RESUMEN

Although there are a large number of sequence variants of different genes and copy number variations at various loci identified in autistic disorder (AD) patients, the pathogenesis of AD has not been elucidated completely. Recently, in AD patients, a large number of expression array and transcriptome studies have shown an increase in the expression of genes especially related to innate immune response. Antimicrobial effects of vitamin D and VDR are exerted through Toll-Like-Receptors (TLR) which have an important role in the innate immune response, are expressed by antigen presenting cells and recognize foreign microorganisms. In this study, age and gender matched 30 patients diagnosed with AD and 30 healthy controls were included in the study. Comparatively whole blood VDR gene expression and rs11568820 and rs4516035 SNP profile of the promoter region of the VDR gene were investigated by real time PCR. Whole blood VDR gene expression was significantly higher in the AD group compared to control subjects (p < 0.0001). There were no significant differences among allele and genotype distribution of rs11568820 and rs4516035 polymorphisms between AD patients and controls. The increase of VDR gene expression in patients with AD may be in accordance with an increase in the innate immune response in patients with AD. Furthermore, this study will stimulate new studies in order to clarify the relationship among AD, vitamin D, VDR, and innate immunity.


Asunto(s)
Trastorno del Espectro Autista/genética , Receptores de Calcitriol/genética , Estudios de Casos y Controles , Niño , Variaciones en el Número de Copia de ADN , Femenino , Expresión Génica , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Receptores de Calcitriol/metabolismo , Transcriptoma , Vitamina D/genética , Vitamina D/metabolismo
12.
Rheumatol Int ; 38(1): 97-104, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29260407

RESUMEN

Many studies have shown that oxidative stress levels increase in patients with Familial Mediterranean Fever (FMF). Thiols are a class of compounds that include a sulfhydryl group (-SH) and can react with free oxygen radicals to protect tissues. We aimed to investigate thiol-disulphide homeostatic status in FMF patients and examined the effect of different mutations in the MEFV gene on the thiol-disulphide balance. We investigated thiol-disulphide parameters in patients with FMF and healthy controls. To determine the differential effect of MEFV gene mutations on thiol-disulphide balance, subjects were divided into five groups based on homozygous or compound heterozygous exon 10 and nonexon 10 mutations. Tests of thiol-disulphide homeostasis were conducted using the automated spectrophotometric method. Patients with FMF had significantly lower native thiol [433.8 µmol/l (243.3-536.4) vs. 484.1 µmol/L (340.2-612.3), p  < 0.001], total thiol levels [459.7 µmol/L (281.3-575.4) vs. 529.9 µmol/L (363-669.5), p < 0.001], and disulphide levels [14.0 µmol/l (2.7-33.3) vs. 24.4 µmol/l (7.2-36.6), p < 0.001] compared to the control group. Moreover, disulphide/native thiol (3.4 ± 1.7 vs. 4.7 ± 1.3, p < 0.001) and disulphide/total thiol (3.1 ± 1.4 vs. 4.3 ± 1.0 p < 0.001) were also detected lower in the FMF group compared to the control group. But the native thiol/total thiol ratios (93.6 ± 2.9 vs. 91.3 ± 2.1, p < 0.001) were higher in the FMF group. There was no significant difference between the native thiol, total thiol, and disulphide levels of individuals with nonexon 10 homozygous or compound heterozygous (Group 1), nonexon 10-exon 10 compound heterozygous (Group 2), exon 10 homozygous or compound heterozygous (Group 3), and heterozygous (Group 4) mutations. However, these parameters significantly differed from those of the healthy control group. Since no differences were found in our study between thiol and disulfide levels of Groups 1, 2 and 3, we believe that this rate cannot be shown as an indicator of oxidative damage in different mutations of FMFs. To the best of our knowledge, this study is the first study that demonstrates the effect of different FMF mutations on the thiol-disulphide balance.


Asunto(s)
Fiebre Mediterránea Familiar/genética , Estrés Oxidativo/genética , Pirina/genética , Adolescente , Adulto , Estudios de Casos y Controles , Niño , Preescolar , Disulfuros/metabolismo , Exones , Fiebre Mediterránea Familiar/metabolismo , Humanos , Lactante , Persona de Mediana Edad , Compuestos de Sulfhidrilo/metabolismo , Adulto Joven
13.
Am J Med Genet A ; 173(10): 2798-2802, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28815864

RESUMEN

Interstitial deletions of the short and long arms of chromosome 5 are rare cytogenetic abnormalities. The 5p distal deletion is a genetic disorder characterized by a high-pitched cat-like cry, microcephaly, epicanthal folds, micrognathia, severe intellectual disability and motor delays. Previously, more than 46 patients with the 5q deletion have been reported. Here, we report de novo interstitial deletions involving 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with multiple congenital abnormalities, including blepharophimosis, arthrogryposis, short neck, round face, pelvic kidney, agenesis of the corpus callosum, and clubfoot. The deletions were characterized using GTG banding and aCGH microarray analysis. Concurrent 5p and 5q interstitial deletions in humans have not been previously reported. We also discussed the relationship between the 5q deleted region and clubfeet.


Asunto(s)
Artrogriposis/genética , Blefarofimosis/genética , Deleción Cromosómica , Cromosomas Humanos Par 5 , Pie Equinovaro/genética , Anomalías Congénitas/genética , Adulto , Artrogriposis/complicaciones , Artrogriposis/patología , Blefarofimosis/complicaciones , Blefarofimosis/patología , Preescolar , Pie Equinovaro/complicaciones , Pie Equinovaro/patología , Anomalías Congénitas/patología , Femenino , Humanos , Lactante , Masculino , Pronóstico
16.
Gynecol Endocrinol ; 32(3): 188-92, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26489983

RESUMEN

The objective of this study was to assess the iodine status of pregnant women in a metropolitan city which was stated as iodine sufficient area after salt iodination program. This multicenter, cross-sectional study was carried out on 3543 pregnant women. Age, gestational weeks, smoking, consumption of iodized salt, dietary salt restriction, history of stillbirth, abortus and congenital malformations were questioned. Spot urine samples were analyzed for urine iodine concentration (UIC). The outcomes were: (a) median UIC in three trimesters of pregnancy and (b) frequency of ID among pregnant women. The median UIC was 73 µg/L. The median UIC was 77 µg/L (1-324), 73 µg/L (1-600) and 70 µg/L (1-1650) in three trimesters of pregnancy, respectively (p: 0.14). UIC <50 µg/L was observed in 36.6% (n: 1295) and UIC<150 µg/L was observed in 90.7% (n: 3214) of pregnant women. Only 1% (n: 34) of the pregnant women had UIC levels higher than 500 µg/L. This study showed that more than 90% of the pregnant women in this iodine-sufficient city are facing some degree of iodine deficiency during their pregnancy. A salt iodization program might be satisfactory for the non-pregnant population, but it seems to be insufficient for the pregnant population.


Asunto(s)
Yodo/orina , Embarazo/orina , Cloruro de Sodio Dietético , Adulto , Estudios Transversales , Femenino , Alimentos Fortificados , Humanos , Turquía , Población Urbana/estadística & datos numéricos , Adulto Joven
17.
Clin Invest Med ; 38(2): E63-72, 2015 Apr 08.
Artículo en Inglés | MEDLINE | ID: mdl-25864998

RESUMEN

PURPOSE: There is currently no gold standard treatment for unstable intertrochanteric fractures of the elderly. Internal fixation and hemiarthroplasty are two common treatment methods but studies comparing the functional outcomes of these procedures in the elderly are limited. This study evaluates the functional outcomes of hip fracture patients treated either with internal fixation or hemiarthroplasty. METHODS: Eighty-six elderly (>60 years) patients who presented with isolated, unstable intertrochanteric fractures between 2009 and 2013 were included in the study. According to the classification of Association for Osteosynthesis/Orthopaedic Trauma Association; 12 of the patients had a 31A1.3 fracture type, 36 of the patients had 31A2.2 and 19 had 31A2.3 fracture type, 12 had 31A3.1 and seven had 31A3.3 fracture. Forty-two of 86 hip patients (Group 1) were treated with intramedullary nailing and antirotator proximal femoral nail implant (TST, Turkey), and 44 (Group 2) were treated with cementless bipolar hemiarthroplasty. Preoperative social function (Jensen) score, EQ-5D index score and mobility (Palmer/Parker) scores were obtained. Five dimensions of EQ-5D were obtained at every follow-up visit until 24 months postoperative. RESULTS: There was no statistically significant difference between two groups according to preoperative demographic variables, including mean age and sex and Jensen, Palmer/Parker,EQ-5D index, five dimensions of EQ-5D and American Society of Anesthesiologists scores. At end of 24 months follow-up, health-related quality of life had increased more in Group 1 and they reported better social functioning and mobility scores (p<0.01). CONCLUSION: Internal fixation resulted in better social functioning and mobility scores compared with cementless bipolar hemiarthroplasty at the end of 24 months in treatment of unstable pertrochanteric hip fracture in the elderly.


Asunto(s)
Fijación Interna de Fracturas/métodos , Hemiartroplastia/métodos , Fracturas de Cadera/cirugía , Calidad de Vida , Actividades Cotidianas , Anciano , Clavos Ortopédicos , Femenino , Cabeza Femoral/cirugía , Fijación Interna de Fracturas/instrumentación , Humanos , Masculino , Participación Social
18.
Acta Orthop Belg ; 81(1): 30-5, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26280851

RESUMEN

Total hip arthroplasty for severe developmental dysplasia of the hip is a technically challenging procedure. Subtrochanteric femoral osteotomy enables reducing the femoral head and restoring abductor muscle strength without compromising proximal femoral bone stock in advanced dysplasia.We aimed to retrospectively evaluate Crowe type III or IV developmental dysplasia of the hip who underwent reconstruction with cementless total hip arthroplasty combined with a transverse subtrochanteric femoral osteotomy. Sixty hips of 52 patients (11 male, 49 female) with Crowe type III (n: 37) or IV (n: 23) developmental dysplasia of the hip were included. The average age was 51.4 years. Surgery was performed in lateral decubitis position with posterolateral approach. Subtrochanteric transverse femoral osteotomy were used with cementless components. 40 of the femoral components were Secur-Fit type, and 20 of them were secur-fit plus max type. Ceramic-ceramic coupling was used in 24 cases and metal-polyethylene coupling was used in 36 cases. Merle D'Aubigne and Harris Hip score were used to rate the clinical outcome at the final follow up. All femoral shortening osteotomies were united at a mean of 5.7 months. Mean Merle D'Aubigne pain score was increased from 3.1 to 5.4, and mean Harris Hip score improved from 39 to 92.8, postoperatively (p<0.01). There was no significant difference in time to union between different types of stems. 4 femoral stems had asymptomatic radiolucent lines. There was no significant difference in time to union between different types of stems.


Asunto(s)
Artroplastia de Reemplazo de Cadera/métodos , Luxación Congénita de la Cadera/cirugía , Osteotomía , Adulto , Anciano , Femenino , Luxación Congénita de la Cadera/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Osteotomía/métodos , Radiografía , Estudios Retrospectivos , Resultado del Tratamiento
19.
J Phys Ther Sci ; 27(7): 2225-31, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-26311959

RESUMEN

[Purpose] The hypothalamic-pituitary-adrenal (HPA) axis in the etiopathogenesis of fibromyalgia is not clear. This study aimed to analyze the effects of a 6-week aerobic exercise program on the HPA axis in patients with fibromyalgia and to investigate the effects of this program on the disease symptoms, patients' fitness, disability, and quality of life. [Subjects and Methods] Fifty fibromyalgia patients were randomized to Group 1 (stretching and flexibility exercises at home for 6 weeks) and Group 2 (aerobic exercise three times a week and the same at-home exercises as Group 1 for 6 weeks). Serum levels of cortisol, adrenocorticotropic hormone, insulin-like growth factor-1, and growth hormone were analyzed at baseline and at the end of, and 1 hr after an exercise stress test. [Results] Group 2 showed better improvement in morning stiffness duration and pain. Growth hormone levels significantly increased after intervention and cortisol levels significantly decreased at time-time interaction in both groups. No significant differences in adrenocorticotropic hormone and insulin-like growth factor-1 were found. [Conclusion] The results of this study seem to support the hypothesis that there is a dysregulation of the HPA axis in patients with FM, and that a six-week exercise program can influence symptoms and affect the HPA axis hormones.

20.
Artículo en Inglés | MEDLINE | ID: mdl-24714031

RESUMEN

PURPOSE: To assess the efficacy of nasal expiratory sound analysis in determining the degree of nasal obstruction. MATERIALS AND METHODS: We have analyzed and recorded the expiratory nasal sounds in 18 healthy controls and in 30 patients with inferior turbinate hypertrophy before and after the administration of nasal corticosteroid treatment. Analysis consisted of the time-expanded waveform, spectral analysis with time-averaged fast Fourier transform and waveform analysis of nasal sound. RESULTS: Before treatment, an increase in sound intensity at high frequency was observed in the sound analyses of the patients, whereas after treatment, a decrease in sound intensity at high frequency was noted in the sound analyses of the patients. The differences between the patients and the control group were statistically significant. Data obtained with the Odiosoft-Rhino method were correlated with symptom scores and endoscopic examination. CONCLUSION: Expiratory nasal sound is a practical and objective tool, which can be reliably used not only for the assessment of the degree of nasal blockage but also for the comparison of different treatment alternatives.


Asunto(s)
Antialérgicos/uso terapéutico , Obstrucción Nasal/tratamiento farmacológico , Pregnadienodioles/uso terapéutico , Rinitis Alérgica Perenne/tratamiento farmacológico , Rinometría Acústica , Administración Intranasal , Adulto , Animales , Estudios de Casos y Controles , Femenino , Humanos , Inmunoglobulina E/sangre , Masculino , Furoato de Mometasona , Pyroglyphidae/inmunología , Reproducibilidad de los Resultados , Rinitis Alérgica Perenne/inmunología , Procesamiento de Señales Asistido por Computador , Pruebas Cutáneas
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