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1.
J Endocrinol Invest ; 2024 Feb 14.
Artículo en Inglés | MEDLINE | ID: mdl-38353922

RESUMEN

PURPOSE: In the follow-up of patients with thyroid cancer, recurrences are often detected, posing challenges in locating and removing these lesions in a reoperative setting. This study aimed to assess the effectiveness of preoperative ultrasound (US)-guided injection of patent blue (PB) dye into the recurrences to aid in their safe and efficient removal. METHODS: In this retrospective analysis, we reviewed the records of the patients in a tertiary care centre between February 2019 and March 2023 who underwent US-guided PB injection in the endocrinology outpatient clinic before reoperative neck surgery. The duration between the injection of PB and the initiation of surgery was recorded. The complications and effectiveness of the procedure were evaluated using ultrasonographic, laboratory, surgical, and pathologic records. RESULTS: We reached 23 consecutive patients with 28 lesions. The recurrences averaged 8.8 mm (4.1-15.6) in size and were successfully stained in all cases. The median time between the PB injection and the incision was 90 (35-210) min. There were no complications related to the dye injection. The blue recurrences were conveniently identified and removed in all cases. CONCLUSIONS: A preoperative US-guided injection of PB is a safe, readily available and highly effective technique for localising recurrent tumours, even in small lesions within scarred reoperative neck surgeries.

2.
Eur Rev Med Pharmacol Sci ; 26(16): 5963-5970, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-36066173

RESUMEN

OBJECTIVE: SARS-CoV-2 might present with multisystem involvement due to its entry into many cells with ACE2 receptors on their surfaces, such as heart, endothelial, and lung alveoli cells. Studies have indicated that COVID-19 infection causes a severe clinical presentation in diabetic patients due to dysregulation of the metabolic and immune systems. The hematological effects of COVID-19 and the relationship of lymphopenia with the severity of the disease have been reported previously. The parameter of percentage of large unstained cells (LUCs) reflects active lymphocytes and peroxidase-negative cells. The neutrophil-to-lymphocyte ratio (NLR) is another reliable marker of inflammation in cases of cardiac diseases, solid tumors, and sepsis. The present study aimed to evaluate whether the parameters of LUCs and NLR differed between diabetic and nondiabetic individuals with COVID-19. Associations with disease severity were also sought. MATERIALS AND METHODS: In our retrospective study, the data of 1,053 patients [230 diabetic patients (21.83%) and 823 nondiabetic patients (78.15%)] were reviewed. The white blood cell (WBC) count, neutrophil count, neutrophil%, lymphocyte count, lymphocyte%, LUC count, %LUCs, NLR, platelet count, hemoglobin level, HbA1c, history of diabetes, surveillance during hospitalization, and pulmonary infiltration status within the first 24 hours after admission to the hospital were analyzed from the records. RESULTS: When diabetic patients were compared with nondiabetics, the age [65 (20-90) vs. 42 (18-94) years], WBC count [6.72 (2.6-24.04) vs.  5.91 (1.35-52.68)], neutrophil count [4.29 (1.28-65) vs. 3.68 (0.02-50.47)], neutrophil% [67.53±12.3 vs.  64.08±13.28], NLR [3.35 (0.83-38.11) vs. 2.48 (0.01-68.58)], and LUC count [0.11 (0.03-0.98) vs. 0.1 (0.02-3.06)] of the diabetic group were found to be higher and these differences were statistically significant (p<0.001, p<0.001, p<0.001, p<0.001, p<0.001, and p=0.015, respectively). CONCLUSIONS: We determined that LUC counts and NLR values in COVID-19-positive patients with diabetes were statistically significantly higher compared to nondiabetic patients.


Asunto(s)
COVID-19 , Diabetes Mellitus , Prueba de COVID-19 , Humanos , Recuento de Leucocitos , Recuento de Linfocitos , Linfocitos , Neutrófilos , Reacción en Cadena de la Polimerasa , Estudios Retrospectivos , SARS-CoV-2
3.
Acta Endocrinol (Buchar) ; 17(1): 138-146, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34539923

RESUMEN

CONTEXT: Studies investigating the association between serum IGF-1, and thyroid nodule, ovarian or thyroid volume in polycystic ovarian syndrome (PCOS) are limited. OBJECTIVE: We aimed to analyze the association between serum IGF-1 level, and ovarian or thyroid volume, or thyroid nodule in PCOS. DESIGN: The study was performed between June 2017 and August 2019 as prospective design. SUBJECTS AND METHODS: Adult females with new-onset PCOS were included. The patients having comorbid illness, or using medication were excluded. Basic tests, thyroid and ovarian sonography were performed. The patients were grouped according to thyroid nodule(absent/present) and ovarian volume (<10mL/≥10mL). We planned to find a positive association between IGF-1, and thyroid nodule, thyroid or ovarian volume in PCOS. RESULTS: Of total 118 patients, 11(9%) had thyroid nodule. The patients with thyroid nodule had a higher ovarian volume (p=0.006). No correlation was found between GH or IGF-1, and thyroid or ovarian volume. IGF-1 was not a predictor for thyroid nodule or higher ovarian volume. Thyroid nodule was a significant predictor for higher ovarian volume. CONCLUSION: Our study is the first to analyze the association between IGF-1 and thyroid nodule in PCOS. We found that thyroid nodule was associated with thyroid and ovarian volume, but IGF-1 was not associated with thyroid nodule, thyroid or ovarian volume.

4.
Eur Rev Med Pharmacol Sci ; 25(7): 3028-3037, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33877666

RESUMEN

OBJECTIVE: Few studies have used electrocardiography (ECG) to examine nonfunctional adrenal adenomas (NFAAs). No study has investigated the QRS-T angle in NFAA patients. We analyzed the frontal QRS-T angle of patients with incidentally discovered NFAAs. PATIENTS AND METHODS: Adult patients with incidentally discovered NFAAs were included. Patients with chronic diseases other than hypertension or obesity were excluded. The overnight dexamethasone suppression test was performed. Levels of plasma renin and aldosterone, as well as metanephrine fractions in 24-h urine were measured. We performed abdominal magnetic resonance imaging and computed tomography to exclude hormonal hypersecretion and nonadenomas. The frontal QRS-T angle was calculated and verified based on surface ECG. Patients were grouped in terms of QRS-T angle as normal and abnormal, and the abnormal patients were divided into positive and negative subgroups. RESULTS: Of all patients (n=58), six (10.34%) had abnormal QRS-T angles. Hypertension increased the risk of an abnormal QRS-T angle six-fold (odds ratio 6.000; 95% confidence interval 0.982-36.652, p=0.034). The frequency of hypertension was similar between the normal, abnormally positive, and abnormally negative groups (p=0.086). The mean SV1+RV5 value was lower in the abnormal QRS-T angle group (p=0.012). Age, gender, obesity, antihypertensive medication use, prediabetes status, adenoma size or side, hyperlipidemia, and adrenal hormone levels were all not associated with the QRS-T angle. CONCLUSIONS: Our study is the first to analyze the association between an abnormal QRS-T angle and NFAA. An abnormal QRS-T angle was found in a significant proportion of patients and was associated with hypertension but seemingly, not with left ventricular hypertrophy. We recommend ECG and blood pressure measurement at the time of diagnosis of an NFAA and on follow-up.


Asunto(s)
Adenoma/diagnóstico , Electrocardiografía , Anciano , Femenino , Humanos , Hipertensión/diagnóstico , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tomografía Computarizada por Rayos X
5.
Eur Rev Med Pharmacol Sci ; 24(13): 7372-7380, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32706076

RESUMEN

OBJECTIVE: Polycystic ovary syndrome (PCOS) is a complex disorder comprising ovulatory dysfunction, hyperandrogenism, and polycystic ovaries (PCO). Several studies have used electrocardiography (ECG) to assess PCOS patients. We aimed to analyze the associations among QRS-T angle, hormonal parameters, and ovarian and thyroid sonography in PCOS. PATIENTS AND METHODS: Adult females with PCOS, but without comorbid illness, were included in our study. Demographic and clinical features (body mass index, Ferriman-Gallwey score, phenotype) were analyzed, as well as laboratory test results. Based on standard 12-lead ECGs, frontal plane QRS-T angles were calculated, defined as the angle between the mean QRS and the mean T vector, and verified with automatic instrument measurements. Values within the range -46 to +59° were classified as "normal", and those out of this range as "abnormal". Patients were divided into groups according to the presence of thyroid nodules, echogenicity (normal/decreased), and vascularity (normal/increased) based on thyroid sonography, and by mean ovarian volume (MOV ≥ 10/< 10 mL) or apparent PCO based on ovarian sonography. RESULTS: The mean age of the 92 patients was 22.68 ± 4.58 years; 11 patients (11.9%) had abnormal QRS-T angles. Demographic, clinical, electrocardiographic, and laboratory parameters were similar between the normal and abnormal QRS-T angle groups, with the exception of MOV, which was higher in the latter group (p=0.032). Among all clinical and laboratory parameters, only MOV was a strong predictor of abnormal QRS-T angle (p=0.016). CONCLUSIONS: Our study is the first to analyze the association between the QRS-T angle and hormonal and sonographic features of patients with PCOS. A small percentage of patients had abnormal QRS-T angles, and a large MOV was a strong predictor of this abnormality.


Asunto(s)
Electrocardiografía , Sistema de Conducción Cardíaco/fisiopatología , Frecuencia Cardíaca , Hormonas/sangre , Ovario/diagnóstico por imagen , Síndrome del Ovario Poliquístico/diagnóstico , Glándula Tiroides/diagnóstico por imagen , Ultrasonografía , Potenciales de Acción , Adolescente , Adulto , Biomarcadores/sangre , Femenino , Humanos , Ovario/metabolismo , Ovario/fisiopatología , Síndrome del Ovario Poliquístico/sangre , Síndrome del Ovario Poliquístico/fisiopatología , Valor Predictivo de las Pruebas , Pronóstico , Estudios Prospectivos , Glándula Tiroides/metabolismo , Glándula Tiroides/fisiopatología , Adulto Joven
6.
Acta Endocrinol (Buchar) ; 12(4): 431-436, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-31149127

RESUMEN

OBJECTIVE: To investigate the impact of body weight on the subclinical hypothyroidism observed in patients with PCOS. METHODS: The study included 95 normal weight (Group-1) and 122 overweight or obese women (Group-2) with PCOS. The control group consisted of age and BMI matched healthy individuals and grouped as normal weight (n: 66, Group-3) and overweight or obese (n: 65, Group-4. Women with chronic disease such as overt thyroid dysfunction, late-onset adrenal hyperplasia, and diabetes were excluded from the study. Plasma glucose and lipid profile, thyroid hormones, insulin, FSH, LH, total testosterone, estradiol, progesterone and DHEA-S were measured. RESULTS: While fasting glucose was similar, insulin and HOMA-IR were higher in Group-2 and Group-4 (p: 0.001). The groups were similar with respect to FSH, Estradiol, prolactine, DHEAS. While total testosterone and LH levels were higher (ptestosterone: 0,009), progesterone was lower in both PCOS groups (pprogesterone: 0.041). Free T3, free T4, thyroid antibodies were similar between the groups, but the prevalence of subclinical hypothyroidism was greater in Group-2 and -4 than in Group-1 and -3 (p: 0.044). TSH was only correlated with BMI (r: 0.122, p: 0.02). CONCLUSION: The increased prevalence of subclinical hypothyroidism in women with PCOS might be the result of increased BMI.

7.
Minerva Endocrinol ; 39(3): 209-14, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25068306

RESUMEN

AIM: Nesfatin-1 was recently discovered anorexigenic peptide in the brain which is derived from nucleobindin-2. Central and peripheral administration of nesfatin-1, inhibits food intake, dose-dependently. Hyperthyroid patients have increased appetite and food intake with a craving for carbohydrate-rich food, at the beginning of disease, but the physiological mechanisms underlying this behavior is not known exactly. In this study, we investigated whether nesfatin-1 is involved in the regulation of appetite and body weight in hyperthyroidism, or not. METHODS: A total of 70 patients with subclinical (35) and overt hyperthyroidism (35) compared with 35 control patients. Serum nesfatin-1 level was measured from all samples by commercial ELISA kit. RESULTS: Serum nesfatin-1 levels were similar between three groups (P=0.293). After adjusting for age and body mass index, nesfatin-1 levels in control group was not different from subclinical and overt hyperthyroid group, respectively (P=0.567 and P=0.519). CONCLUSION: These data showed that serum nesfatin-1 levels do not significant change in overt and subclinical hyperthyroidism.


Asunto(s)
Apetito/fisiología , Peso Corporal/fisiología , Proteínas de Unión al Calcio/sangre , Proteínas de Unión al ADN/sangre , Hipertiroidismo/sangre , Proteínas del Tejido Nervioso/sangre , Adulto , Glucemia/análisis , Índice de Masa Corporal , Creatina/sangre , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Masculino , Persona de Mediana Edad , Nucleobindinas , Hormonas Tiroideas/sangre , Tirotropina/sangre , Pérdida de Peso , Adulto Joven
8.
Minerva Endocrinol ; 39(2): 99-105, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24736484

RESUMEN

AIMS: We aimed to investigate, circulating vaspin, apelin-12 and apelin-36 levels in subjects with metabolic syndrome (MetS) and also to search for the association of vaspin and apelin levels with insulin resistance (IR), high sensitivity C-reactive protein (HsCRP), Carotid Artery Intima-Media Thickness (CIMT) and cardiovascular risk factors. METHODS: In this observational case-control study, a total of forty one patients with MetS (30 women and 11 men mean age, 41.3±9.4 years) and thirty nine healthy comparison subjects (27 women and 12 men; mean age, 38.4±6.1 years) were enrolled. Serum HsCRP, lipid profile, insulin levels and the homeostasis model assessment of insulin resistance (HOMA-IR) were evaluated. Apelin-12, apelin-36 and vaspin serum levels were measured via ELISA. High-resolution B-mode ultrasonography was performed. RESULTS: The two study groups did not differ as to age, sex, blood pressure, smoking history. Vaspin, apelin-12 and apelin-36 levels were significantly elevated in patients with MetS when compared with that of control subjects (P<0.001). Serum vaspin levels showed a statistically significant association with CIMT (r=0.365, P<0.001) and HsCRP (r=0.316, P<0.01) levels, whereas both serum apelin-12 and 36 levels were positively correlated with HOMA-IR (r=0.344/0.462 P<0.01). CONCLUSION: Based on the findings of this study, Serum vaspin and apelin levels were found significantly higher in patients with MetS than age-matched control subjects and significantly associated with coronary atherosclerosis. These adipocytokines might play a part in the pathogenesis of MetS. Also serum Apelin levels can be used as specific markers for insulin sensitivity in patients with MetS.


Asunto(s)
Grosor Intima-Media Carotídeo , Enfermedad de la Arteria Coronaria/complicaciones , Resistencia a la Insulina , Péptidos y Proteínas de Señalización Intercelular/sangre , Síndrome Metabólico/complicaciones , Serpinas/sangre , Adipoquinas/sangre , Adulto , Apelina , Biomarcadores/sangre , Índice de Masa Corporal , Proteína C-Reactiva/metabolismo , Estudios de Casos y Controles , Enfermedad de la Arteria Coronaria/sangre , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Progresión de la Enfermedad , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Lípidos/sangre , Masculino , Síndrome Metabólico/sangre , Síndrome Metabólico/diagnóstico por imagen , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Factores de Riesgo , Sensibilidad y Especificidad , Inhibidores de Serina Proteinasa/farmacología
9.
J Endocrinol Invest ; 36(9): 681-5, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23558409

RESUMEN

BACKGROUND: Obstructive sleep apnea syndrome (OSAS) is a widespread disorder characterized by recurrent, partial or complete episodes of apnea due to upper airway tract obstruction during sleeping period. Deficiency of vitamin D has roles in development of many diseases. Association between presence and severity of OSAS and vitamin D has recently gained research interest. AIM: The aim of our study was to investigate the association between serum 25-hydroxy [25 (OH)] vitamin D levels and severity of disease in patients with OSAS. MATERIAL AND METHODS: One hundred and fifty OSAS patients (50 patients with mild, 50 with moderate, 50 with severe OSAS) who were diagnosed by polysomnography (PSG) and 32 non-OSAS controls who were referred to the Health Ministry Ankara Numune Training and Research Hospital, Endocrinology and Metabolism Department, from January 2010 to May 2011 were included in the study. Serum 25(OH)D, PTH, calcium and phosphorus levels were evaluated in all the patients who were recruited to the study. RESULTS: There was no statistically significant difference in serum 25(OH)D levels between OSAS and controls (p>0.05). However, in subgroup analysis of OSAS, we found that the patients with severe OSAS had significantly lower levels of 25(OH)D as compared with other groups (p=0.003). Also, the number of patients with serum 25(OH)D deficiency (<10 µg/dl) were higher in OSAS group than in controls (p<0.05). CONCLUSIONS: We found that when the severity of OSAS increases, 25(OH)D deficiency becomes more pronounced.


Asunto(s)
Apnea Obstructiva del Sueño/complicaciones , Deficiencia de Vitamina D/complicaciones , Vitamina D/análogos & derivados , Adulto , Índice de Masa Corporal , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Apnea Obstructiva del Sueño/sangre , Vitamina D/sangre
10.
J Endocrinol Invest ; 32(3): 248-52, 2009 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19542743

RESUMEN

OBJECTIVE: To verify whether tissue Doppler imaging (TDI) could contribute to a better understanding of the natural history of cardiomyopathy in active Cushing's disease (CD), through its enhanced sensitivity to diastolic dysfunction, and identifying preliminary regional signs of systolic dysfunction before the appearance of clinical symptoms of cardiac pathologies. METHODS: Eleven women with newly diagnosed CD and 32 control cases, purposely matched for gender, age, body mass index and co-incidental diseases were enrolled in this study. Echocardiographic examinations were assessed by conventional echocardiography and tissue Doppler imaging. The peak systolic velocity (S'm), early diastolic myocardial peak velocity (E'm), late diastolic myocardial peak velocity (A'm), isovolumic acceleration (IVA), myocardial pre-contraction time (PCT'm), myocardial contraction time (CT'm) and myocardial relaxation time (RT'm) were measured at septal and lateral mitral anulus. RESULTS: In TDI, E'm and, E'm/A'm ratio were significantly lower, and PCT'm/CT'm ratio was higher, S'm, A'm, peak early diastole/E'm ratio, PCT'm, and isovolumetric myocardial relaxation time values were similar at lateral and septal anulus in patients with CD than controls (p>0.05). Lateral and septal anulus IVA were significantly lower in patients with CD than the control group (p<0.05). Correlation analysis showed that IVA time at lateral anulus correlated positively with S'm at lateral anulus (r=0.58; p=0.002) and IVA time at septal anulus correlated positively with S'm at septal anulus (r=0.51; p=0.008). CONCLUSION: Our study confirms that patients with CD have impaired diastolic function. More importantly, we also demonstrated an impairment of myocardial systolic function in patients with CD by TDI. We recommend using TDI in addition to conventional echocardiography parameters for the cardiovascular risk assessment of patients with Cushing' syndrome.


Asunto(s)
Ecocardiografía Doppler , Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT)/diagnóstico por imagen , Función Ventricular Izquierda , Hormona Adrenocorticotrópica/sangre , Adulto , Estudios de Casos y Controles , Estudios Transversales , Femenino , Humanos , Hidrocortisona/sangre , Hidrocortisona/orina , Persona de Mediana Edad , Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT)/sangre , Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT)/fisiopatología , Hipersecreción de la Hormona Adrenocorticotrópica Pituitaria (HACT)/orina , Disfunción Ventricular Izquierda/diagnóstico por imagen , Disfunción Ventricular Izquierda/epidemiología , Adulto Joven
13.
J Endocrinol Invest ; 29(10): 876-84, 2006 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-17185895

RESUMEN

OBJECTIVE: To investigate the effects of ultrasound (US)-guided percutaneous laser ablation (PLA) in the treatment of benign solid hypoactive thyroid nodules on nodule volume, thyroid functions, nodule cytology and patients' complaints. MATERIAL AND METHOD: Criteria for enrollment in the study were as follows: patients with euthyroid, benign, hypofunctional nodule who had compressive symptoms or cosmetic complaints, but considered inoperable, or who rejected surgical treatment. PLA procedure at 3-5 watts (W) was applied to 15 thyroid nodules of 12 patients (4 male and 8 female; age range 20-78 yr, mean age 47.42+/-17.05 yr), and patients were followed up for 12 months. Thyroid functions and nodule volumes (ultrasonographically) were evaluated. US-guided fine needle aspiration biopsy (FNAB) was performed before and after the procedure, and biopsy specimens were cytologically evaluated. RESULTS: The mean nodule volume before the procedure was 11.97 ml (min-max 0.95-26.30 ml). However, 12 months after the procedure the mean nodule volume was 2.21+/-2.32 ml (min-max 0.10-7.65 ml). The mean reduction in nodule volumes was 82%. Thyroglobulin levels reached peak values at 1 month after the procedure, and anti-thyroglobulin levels at 3 months after the procedure. FNAB performed at 12th month showed neutrophil polymorphs, macrophages, abundant cell debris, colloid, multinucleated giant cells, and small fragments of fibrous stroma which indicated that PLA procedure led to degenerative changes in nodules. CONCLUSION: US-guided PLA is a new, successful treatment method which is reliable in the long term in benign solid thyroid nodules for selected patients who are inoperable or do not prefer surgery.


Asunto(s)
Autoanticuerpos/sangre , Coagulación con Láser/métodos , Tiroglobulina/sangre , Nódulo Tiroideo/patología , Nódulo Tiroideo/cirugía , Ultrasonografía Intervencional , Adulto , Anciano , Anciano de 80 o más Años , Biopsia con Aguja Fina/métodos , Femenino , Estudios de Seguimiento , Humanos , Coagulación con Láser/efectos adversos , Masculino , Persona de Mediana Edad
14.
Biochem Biophys Res Commun ; 289(2): 597-601, 2001 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-11716517

RESUMEN

During the final stages of spermatogenesis, round spermatids undergo several morphological, biochemical, and physiological modifications which result in the formation of mature spermatozoa. One of these is the nuclear condensation, achieved by the replacement of somatic-type and testis-specific histones by transition proteins and protamines leading to cessation of transcription several days before the completion of spermiogenesis. Therefore, a strict temporal and stage-specific gene expression is necessary for the correct differentiation of round spermatids into mature spermatozoa. In this study, the 5' regulatory region of rat Tnp2 gene was investigated by primer extension analysis and transgenic mice study. Primer extension analysis revealed a transcription start site which lies 70 bp upstream of the translation start codon. By transgenic mice studies, we demonstrated that a 147-bp 5' untranslated region corresponding to the region -74 to +73 is sufficient to confer testis- and spermatid-specific expression of rat Tnp2 gene.


Asunto(s)
Proteínas Nucleares/biosíntesis , Proteínas Nucleares/genética , Regiones Promotoras Genéticas , Espermátides/metabolismo , Testículo/metabolismo , Regiones no Traducidas 3' , Regiones no Traducidas 5' , Animales , Secuencia de Bases , Northern Blotting , Cloranfenicol O-Acetiltransferasa/metabolismo , AMP Cíclico , Cartilla de ADN/metabolismo , Proteínas de Unión al ADN , Células Germinativas/metabolismo , Homocigoto , Masculino , Ratones , Ratones Transgénicos , Datos de Secuencia Molecular , Plásmidos/metabolismo , ARN/metabolismo , ARN Mensajero/metabolismo , Ratas , Espermatozoides/metabolismo , Factores de Tiempo , Distribución Tisular , Transgenes
15.
Hum Biol ; 73(2): 191-203, 2001 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-11446424

RESUMEN

Identification of mutations causing cystic fibrosis (CF) in the Turkish population is essential for assessment of the molecular basis of CF in Turkey and the development of strategies for prenatal diagnosis and genetic counseling. Here, we present an updated report of mutations found in the Turkish CF population from an extensive screening study of the entire coding region, including exon-intron boundaries and the promoter region. Cases for which mutations could not be identified were also screened for previously defined large alterations and (TG)mTn-M470V loci. This study revealed a total of 27 different mutations accounting for almost 60% of disease genes in the Turkish population. In this study, we also identified the haplotypes associated with 17 mutations and those associated with unknown mutations. The mutation spectrum of CF in Turkey and its associated haplotypes indicated the presence of a major Mediterranean component in the contemporary Turkish population.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/genética , Haplotipos/genética , Mutación , Fibrosis Quística/etnología , Análisis Heterodúplex , Humanos , Repeticiones de Microsatélite , Regiones Promotoras Genéticas/genética , Turquía
16.
Hum Genet ; 102(2): 224-30, 1998 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-9521595

RESUMEN

In order to determine the spectrum of cystic fibrosis (CF) mutations in the Turkish population, a complete coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene including exon-intron boundaries, on 122 unrelated CF chromosomes from 73 Turkish CF families was analysed by denaturing gradient gel electrophoresis and multiplex heteroduplex analysis on MDE gel matrix. In addition to 15 previously reported mutations and 12 polymorphisms, three novel mutations, namely 3172delAC, P1013L and M1028I, were detected. DeltaF508 was found to be present on 18.8% of CF chromosomes. The second most common mutation was 1677delTA, with a frequency of 7.3%, followed by G542X and 2183AA-->G mutations, with frequencies of 4.9%. These four most common mutations in Turkish CF population account for approximately 36% of mutations. This study could only detect 52.5% of disease-causing mutations in this population; 47.5% of CF alleles remain to be identified, reflecting the high molecular heterogeneity of the Turkish population.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/genética , Mutación , Adenina , Sustitución de Aminoácidos/genética , Citosina , Mutación del Sistema de Lectura , Humanos , Isoleucina/genética , Leucina/genética , Metionina/genética , Polimorfismo Genético , Prolina/genética , Eliminación de Secuencia , Turquía
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