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1.
Niger J Clin Pract ; 26(12): 1886-1894, 2023 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-38158357

RESUMEN

BACKGROUND: Nighttime blood pressure dipping is a normal physiologic phenomenon. Lack of dipping is associated with increased cardiovascular disease; thus, non-dipping patients are candidates for more strict risk reduction strategies. Dipping presence can be identified using ambulatory blood pressure measurement (ABPM). Recent findings indicate that inflammatory, metabolic, and liver-related indices may have a role in predicting dipping presence dichotomously. AIM: To investigate whether dipping ratios correlate with that inflammatory, metabolic, and liver-related indices. MATERIALS AND METHODS: Hypertensive patients with ABPM recordings were retrospectively collected. Patient characteristics, co-morbidities, medications, laboratory results, and ABPM results were analyzed. The neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), triglyceride-glucose index (TyG), triglyceride-to-HDL ratio (TG/HDL), total cholesterol-to-HDL ratio (TC/HDL), AST-to-ALT ratio (AST/ALT), fibrosis-4 (FIB-4), and AST-to-platelet ratio index (APRI) were calculated. Differences and correlations were analyzed between indices, dipping patterns, and ratios. RESULTS: Ninety-three patients were included in the study. Forty-five had either a systolic or diastolic dipping pattern. NLR, PLR, TG/HDL, and TC/HDL indices correlated negatively with dipping ratios. AST/ALT was higher in systolic dippers (1.04 vs 0.88, P = 0.03). However, no difference was observed between NLR, PLR, TyG, TG/HDL, TC/HDL, FIB-4, and APRI among different dipping presences. CONCLUSION: This study showed for the first time that there was a negative correlation between inflammatory and metabolic indices and dipping ratios.


Asunto(s)
Monitoreo Ambulatorio de la Presión Arterial , Hipertensión , Humanos , Presión Sanguínea/fisiología , Estudios Retrospectivos , Monitoreo Ambulatorio de la Presión Arterial/métodos , Hipertensión/complicaciones , Hígado , Triglicéridos
2.
Niger J Clin Pract ; 26(9): 1396-1398, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37794557

RESUMEN

The immune and hemostatic systems share a common evolutionary origin, both defend against threats to organisms, and inflammation can cause venous thromboembolism. We would like to report a patient with a history of psoriasis, a chronic inflammatory disease, who has been admitted to our clinic with a swollen right arm and collateral veins visible throughout the right upper arm and right pectoral region, which have been present for almost 2 years. Investigations revealed a thrombus extending from the proximal basilic vein into the axillary and subclavian veins but sparing the superior vena cava. Further investigation was performed to reveal any likely cause other than psoriasis, including malignancy, rheumatological disease, or genetic thrombophilia, but none were revealed. This report illustrates that psoriasis-related inflammation can cause atypically located venous thromboembolic events.


Asunto(s)
Psoriasis , Trombosis , Tromboembolia Venosa , Humanos , Vena Cava Superior , Tromboembolia Venosa/etiología , Trombosis/etiología , Inflamación
3.
Niger J Clin Pract ; 26(3): 365-367, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37056115

RESUMEN

Melanoma is a relatively rare tumour with tendency to metastasize to the gastrointestinal tract. Metastasis to the intestine constitutes a majority of the gastrointestinal tract melanoma metastases and confers a poor prognosis. While post-mortem studies detect that more than half of the melanoma patients have gastrointestinal tract metastasis, only minority are diagnosed, and even rarer present with intussusception. Intussusception, mainly a paediatric entity, is also seen among adult patients with underlying inflammatory bowel disease or tumour. In this report, we describe a patient with a melanoma in remission who presented with intestinal obstruction after months of vague abdominal complaints. Laparotomy revealed jejunal intussusception and histopathological staining confirmed the melanoma diagnosis. No other distant metastases other than the jejunum were revealed after extensive investigation.


Asunto(s)
Obstrucción Intestinal , Intususcepción , Melanoma , Adulto , Humanos , Niño , Intususcepción/diagnóstico , Intususcepción/etiología , Intususcepción/cirugía , Yeyuno , Recurrencia Local de Neoplasia , Melanoma/complicaciones , Melanoma/diagnóstico , Melanoma/cirugía , Obstrucción Intestinal/patología , Síndrome
4.
Helminthologia ; 56(2): 132-140, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31662684

RESUMEN

The metazoan parasites were investigated of two flatfish the common sole, Solea solea (n:140) and the scaldfish, Arnoglossus laterna (n: 22) in the Sinop coast of Black Sea from June 2015 to June 2017. A total of 15 metazoan parasite species belonging to Digenea (6), Cestoda (3), Acanthocephala (1), Nematoda (4) and Isopoda (1) taxonomic groups were identified. Solea solea was found to be infected by Condylocotyla pilodora, Proctoeces maculatus, Opecoelidae gen. sp., Metadena sp., Stephanostomum sp., Progrillotia sp., Capillaria gracilis, Cucullanus campanae, Solearhynchus rhytidotes and Nerocila orbignyi. Arnoglossus laterna was found to be infected by Lecithochirium musculus and Grillotia erinaceus. Scolex pleuronectis, Hysterothylacium aduncum and Dichelyne minutus were determined in both flatfish. Infection prevalence and mean intensity values were recorded for each parasite species. Infection values for each parasite species in relation to season and fish size were also determined and compared as comparatively. This study is the first one assessing the metazoan parasites both of S. solea and A. laterna collected from the Turkish coast of Black Sea. While Condylocotyle pilodora and Capillaria gracilis are new parasite records for S. solea, Grillotia erinecaus is new parasite record for A. laterna. Moreover, this paper is the first report on occurrence of Opecoelidae gen. sp., Metadena and Stephanostomum genera in S. solea.

5.
J Endocrinol Invest ; 42(4): 453-470, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30132287

RESUMEN

BACKGROUND: Studies regarding genetic and clinical characteristics, gender preference, and gonadal malignancy rates for steroid 5-alpha-reductase type 2 deficiency (5α-RD2) are limited and they were conducted on small number of patients. OBJECTIVE: To present genotype-phenotype correlation, gonadal malignancy risk, gender preference, and diagnostic sensitivity of serum testosterone/dihydrotestosterone (T/DHT) ratio in patients with 5α-RD2. MATERIALS AND METHODS: Patients with variations in the SRD5A2 gene were included in the study. Demographic characteristics, phenotype, gender assignment, hormonal tests, molecular genetic data, and presence of gonadal malignancy were evaluated. RESULTS: A total of 85 patients were included in the study. Abnormality of the external genitalia was the most dominant phenotype (92.9%). Gender assignment was male in 58.8% and female in 29.4% of the patients, while it was uncertain for 11.8%. Fourteen patients underwent bilateral gonadectomy, and no gonadal malignancy was detected. The most frequent pathogenic variants were p.Ala65Pro (30.6%), p.Leu55Gln (16.5%), and p.Gly196Ser (15.3%). The p.Ala65Pro and p.Leu55Gln showed more undervirilization than the p.Gly196Ser. The diagnostic sensitivity of stimulated T/DHT ratio was higher than baseline serum T/DHT ratio, even in pubertal patients. The cut-off values yielding the best sensitivity for stimulated T/DHT ratio were ≥ 8.5 for minipuberty, ≥ 10 for prepuberty, and ≥ 17 for puberty. CONCLUSION: There is no significant genotype-phenotype correlation in 5α-RD2. Gonadal malignancy risk seems to be low. If genetic analysis is not available at the time of diagnosis, stimulated T/DHT ratio can be useful, especially if different cut-off values are utilized in accordance with the pubertal status.


Asunto(s)
3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/deficiencia , 3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/genética , Dihidrotestosterona/sangre , Trastornos del Desarrollo Sexual/complicaciones , Neoplasias de los Genitales Femeninos/etiología , Neoplasias de los Genitales Masculinos/etiología , Testosterona/sangre , Adolescente , Adulto , Niño , Preescolar , Aberraciones Cromosómicas , Trastornos del Desarrollo Sexual/metabolismo , Trastornos del Desarrollo Sexual/patología , Femenino , Estudios de Asociación Genética , Neoplasias de los Genitales Femeninos/metabolismo , Neoplasias de los Genitales Femeninos/patología , Neoplasias de los Genitales Masculinos/metabolismo , Neoplasias de los Genitales Masculinos/patología , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos , Factores de Riesgo , Factores Sexuales , Maduración Sexual , Turquía , Adulto Joven
6.
Bratisl Lek Listy ; 117(3): 152-5, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26925745

RESUMEN

AIM: Information regarding the Neutrophil/Lymphocyte ratio (NLR) in sarcoidosis and the data from studies recommending its use as an indicator of inflammation and in the differential diagnosis and prognosis, are limited. With this study, it was aimed to obtain data regarding the NLR level in the patients at the time of presentation to the hospital and to determine the characteristics of patients in whom the NLR value was > 2. RESULTS: During the study period, of the 3434 patients with the sub-diagnosis of D86, 1300 cases whose complete blood count values had been recorded at the time of presentation were included in the study. Of the cases, 40 % were pulmonary sarcoidosis, 7 % were pulmonary sarcoidosis with sarcoidosis of the lymph nodes, 8 % were lymph node sarcoidosis, 1 % were sarcoidosis, of other combined areas, and 40 % of the cases were sarcoidosis that were unspecified. The F/M of the cases were 947/353, and the average age of the cases was 44. When the sarcoidosis groups were grouped into NLR < 2 (Group 1) and NLR ≥ 2 (Gorup 2), 27 % were Group 1, 73 % were Group 2, and a significant correlation was found between the two groups. When the inflammatory indicators were compared with NLR, the PLT/MPV was found to be statistically insignificant, and the ACE, ESR and CRP were found to be statistically significant. CONCLUSION: The Neutrophil/Lymphocyte ratio in the complete blood count, which is an easy and cheap test, can be used as an indicator of inflammation in Sarcoidosis. In clinical practice, wide-based studies comprising the activity and the staging in the prognosis of sarcoidosis are required (Tab. 2, Fig. 2, Ref. 26).


Asunto(s)
Linfocitos , Neutrófilos , Sarcoidosis/inmunología , Adulto , Recuento de Células Sanguíneas , Femenino , Humanos , Inflamación/sangre , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Sarcoidosis/sangre
7.
Genet Couns ; 26(2): 195-204, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26349189

RESUMEN

Focal dermal hypoplasia (FDH), an X-linked dominant disease with a highly variable phenotype, presents mainly with congenital linear pigmentation of the skin, herniation of fat through the dermal defects and multiple papillomas. PORCNmicrodeletions are identified in a total of 12 FDH patients to date. Routine molecular methods for detecting microdeletions have proven not to be effective, as patients also carry a normal allele. Additionally, methods using copy number estimations are labor-intensive, time-consuming and require expensive equipment. With respect to the molecular diagnosis of FDH, we aimed to investigate the inheritance of maternal disease allele in a three-generation FDH pedigree with seven affected members by using a simple yet efficient method. The strategy used in this study appeared to have the benefit of detecting all PORCN micro-deletions identified for FDH so far. The family with the largest number of related patients reported to date presented an opportunity to evaluate clinical variability, which was high, with the least affected and the most severely affected patients being half-sisters. The extensive intra-familial phenotypic variability observed in this FDH family suggests that genetic counselling should be part of management of this syndrome even in a family with a very mild case. The unique finding of IgA deficiency in the most severe case indicated that the feature could be a new characteristic of FDH.


Asunto(s)
Hipoplasia Dérmica Focal/genética , Deficiencia de IgA/genética , Proteínas de la Membrana/genética , Aciltransferasas , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Persona de Mediana Edad , Linaje , Adulto Joven
8.
J Vector Borne Dis ; 52(1): 36-9, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25815865

RESUMEN

BACKGROUND & OBJECTIVES: Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne viral disease, causing severe viral hemorrhagic fever outbreaks. This study aimed at determining the serum vitamin D levels and investigated the association between Crimean-Congo hemorrhagic fever (CCHF) and serum vitamin D levels in children with CCHF. METHODS: A total of 45 children aged between 5 and 15 yr, viz. 15 healthy control (HC) and 30 pediatric patients diagnosed with CCHF with real-time polymerase chain reaction (PCR) (patient group) were selected for the study. RESULTS: Analysis of the blood serum samples taken from the said individuals revealed that vitamin D, parathyroid hormone and calcium levels of the patients and the control groups were statistically different. INTERPRETATION & CONCLUSION: It was found that the serum vitamin D levels of the pediatric patients with CCHF were lower when compared to those of the controls, and that a low vitamin D level could negatively affect the reaction of the body to infections in children having CCHF.


Asunto(s)
Virus de la Fiebre Hemorrágica de Crimea-Congo/aislamiento & purificación , Fiebre Hemorrágica de Crimea/metabolismo , Vitamina D/sangre , Adolescente , Calcio/sangre , Niño , Preescolar , Virus de la Fiebre Hemorrágica de Crimea-Congo/genética , Fiebre Hemorrágica de Crimea/diagnóstico , Humanos , Hormona Paratiroidea/sangre , Reacción en Cadena en Tiempo Real de la Polimerasa
9.
Minerva Pediatr ; 67(6): 481-7, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25034219

RESUMEN

AIM: Although the pathogenesis of childhood obesity is multi factorial, maternal obesity and parenting have major roles. The aim of this study was to evaluate the influence of maternal obesity on feeding practices toward their obese school children. METHODS: Obese children and adolescents referred to the pediatric endocrinology department were enrolled consecutively. Height and weight of all children and their mothers were measured. Maternal feeding practices were measured using an adapted version of the Child Feeding Questionnaire (CFQ). Answers were compared between obese (Body Mass Index [BMI] ≥ 30 kg/m2) and non-obese mothers. RESULTS: A total of 491 obese subjects (292 girls, mean age 12.0 ± 2.8 years) and their mothers participated in this study. A direct correlation between children's BMI and their mothers' BMI was found (P<0.001) both in girls (r = 0.372) and boys (r = 0.337). While 64.4% of mothers were found obese in the study, only half of them consider themselves as obese. No difference were found in the scores of the subscales "perceived responsibility", "restriction", "concern for child's weight" and "monitoring" between obese and non-obese mothers. Child's BMI-SDS positively correlated with mothers' personal weight perception, concern for child's weight and restriction after adjustment for child's age (P < 0.001, P = 0.012 and P = 0.002, respectively). CONCLUSION: Mothers' BMI highly correlate with children's BMI-z-scores. The degree of child's obesity increases mothers' concern and food restriction behavior. While mothers of obese children have a high prevalence of obesity, maternal obesity was found to have no significant influence on feeding behavior of obese school children.


Asunto(s)
Conducta Alimentaria , Madres , Obesidad/epidemiología , Obesidad Infantil/epidemiología , Adolescente , Índice de Masa Corporal , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Relaciones Madre-Hijo , Prevalencia , Encuestas y Cuestionarios
10.
Hum Exp Toxicol ; 34(9): 878-83, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25504688

RESUMEN

Proinflammatory and anti-inflammatory cytokines have an important role in the pathogenesis of febrile seizures (FS). Adipocytokines like interleukin 6 (IL-6), leptin, and adiponectin released from adipose tissue play a role in inflammation. This study aimed to assess the probable role of adipose tissue in children with FS. We measured serum IL-6, leptin, and adiponectin levels and evaluated clinical and laboratory findings in children with FS (n = 32) and compared the results with the values of children of the same age with febrile illness without seizures (febrile control, FC; n = 26) and healthy control group (HC; n = 29). The serum levels of white blood cells, C-reactive protein, IL-6, leptin, and adiponectin were found to be significantly higher, while serum hemoglobin (Hb) levels were found to be significantly lower in FS and FC groups than in the HC group (p < 0.001). When we compared the FS with the FC group, the serum Hb levels were significantly lower in the FS group than those in the FC group (p = 0.001). There was no significant difference between the FS and FC group with regard to the serum levels of these adipocytokines (p > 0.05). Our data showed that elevated levels of these adipocytokines as acute phase reactants in FS and FC groups did not contribute to the development of FS.


Asunto(s)
Adipoquinas/sangre , Adiponectina/sangre , Tejido Adiposo/patología , Interleucina-6/sangre , Leptina/sangre , Convulsiones Febriles/metabolismo , Convulsiones Febriles/patología , Proteína C-Reactiva/metabolismo , Preescolar , Femenino , Hemoglobinas/metabolismo , Humanos , Lactante , Recuento de Leucocitos , Masculino , Estudios Prospectivos
12.
Eur Rev Med Pharmacol Sci ; 18(5): 675-9, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24668707

RESUMEN

OBJECTIVES: The complement system participates in the defense of the body against viral infections through various mechanisms. In the present study conducted on children having Crimean-Congo Hemorrhagic Fever (CCHF), the aim was to evaluate whether the complement system had a role in the pathogenesis of the disease. PATIENTS AND METHODS: Forty-one patients diagnosed with CCHF and 32 healthy controls were included in the study. Serum complement component 3 (C3), 4 (C4) and complement product Bb (Bb) levels were measured in both groups. RESULTS: Compared to the control group, serum C3 levels were lower and Bb levels were higher in CCHF patients (p < 0.01). Moreover, in the patient group, C3 levels were positively correlated with WBC and PLT counts, and Bb levels were positively correlated with AST, ALT and LDH activities. In the patient group, serum Bb levels were negatively correlated with WBC and PLT counts. CONCLUSIONS: The results of the present study suggest that increased activity of the alternative pathway of the complement system in children with CCHF may have a role in the pathogenesis of the disease.


Asunto(s)
Proteínas del Sistema Complemento/metabolismo , Fiebre Hemorrágica de Crimea/sangre , Fiebre Hemorrágica de Crimea/diagnóstico , Adolescente , Biomarcadores/sangre , Niño , Femenino , Humanos , Masculino
13.
Andrologia ; 46(1): 50-58, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-23157213

RESUMEN

The purpose of this study was to examine the effects of hypobaric hypoxia on testis morphology and the effects of erdosteine on testis tissue. Caspase-3 and hypoxia-inducible factor 1α expressions were detected by immunohistochemistry. Adult male Wistar rats were placed in a hypobaric hypoxic chamber. Rats in the erdosteine group were exposed to the same conditions and treated orally with erdosteine (20 mg kg(-1) daily) at the same time from the first day of hypoxic exposure for 2 weeks. The normoxia group was evaluated as the control. The hypoxia group showed decreased height of spermatogenic epithelium in some seminiferous tubules, vacuolisation in spermatogenic epithelial cells, deterioration and gaps in the basal membrane and an increase in blood vessels in the interstitial area. The erdosteine group showed amelioration of both epithelial cell vacuolisation and basal membrane deterioration. Numbers of hypoxia-inducible factor 1α-immunostained Sertoli and Leydig cells were significantly higher in the hypoxia group than in the erdosteine group. The number of seminiferous tubules with caspase-3-immunostained germ cells was highest in the hypoxia group and decreased in the erdosteine and normoxia groups respectively. Based on these observations, erdosteine protects testis tissue from hypoxic injury by reducing apoptotic cell death.


Asunto(s)
Apoptosis/efectos de los fármacos , Hipoxia/prevención & control , Testículo/efectos de los fármacos , Tioglicolatos/farmacología , Tiofenos/farmacología , Animales , Caspasa 3/metabolismo , Subunidad alfa del Factor 1 Inducible por Hipoxia/metabolismo , Masculino , Ratas , Ratas Wistar , Testículo/enzimología , Testículo/metabolismo , Testículo/patología
14.
Vector Borne Zoonotic Dis ; 13(11): 807-11, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24107209

RESUMEN

INTRODUCTION: Crimean-Congo hemorrhagic fever (CCHF) is a zoonotic viral disease with a high mortality rate. In clinical practice, we observed bradycardia in some pediatric patients with CCHF during the clinical course. So we aimed to report CCHF cases that presented bradycardia during the clinical course and the relation of bradycardia with the clinical findings and ribavirin therapy. METHODS: Charts of all hospitalized pediatric CCHF patients were reviewed with respect to age, sex, history of tick bite or history of removing a tick, other risk factors for CCHF transmission, and interval between the tick bite and the onset of symptoms. Outcomes and clinical and laboratory findings and medications were recorded for each patient. We searched the patient records for information regarding the existence of bradycardia. Bradycardia was accepted as the heart rate 2 standard deviations (SD) lower than the suspected heart rate based on age. RESULTS: Fifty-two patients (mean age 11.2 ± 4.4 years, 31 female) were enrolled into the study. Bradycardia was seen in seven patients. Six patients with bradycardia were male and only one was female, and the mean age was 13.1 ± 1.6 years. It was observed that male gender is frequent among patients with bradycardia, as compared with those without bradycardia (p=0.01). Bleeding was found to be more frequent in patients with bradycardia (p=0.02). There were significant differences between the bradycardia and nonbradycardia groups with regard to the requirements for fresh frozen plasma transfusion, the number of platelet suspension given, requirement for intravenous immune globulin (IVIG) and in the days of stay in hospital (p=0.01, p=0.03, p=0.03, p=0.04, respectively). CONCLUSION: Reversible bradycardia might be seen in the clinical course of pediatric CCHF patients, and the clinicians must be aware of this finding. The possibility that ribavirin may potentiate bradycardia cannot be assessed without a placebo-control study. So further studies may help to reveal the cause of the bradycardia, the disease itself, or the ribavirin therapy. Hence this study supports the need for a randomized, placebo-controlled study to assess intravenous ribavirin in treating CCHF and to support approval of the drug.


Asunto(s)
Anticuerpos Antivirales/sangre , Bradicardia/fisiopatología , Virus de la Fiebre Hemorrágica de Crimea-Congo/inmunología , Fiebre Hemorrágica de Crimea/fisiopatología , Adolescente , Animales , Bradicardia/complicaciones , Bradicardia/tratamiento farmacológico , Bradicardia/epidemiología , Niño , Preescolar , Femenino , Fiebre Hemorrágica de Crimea/complicaciones , Fiebre Hemorrágica de Crimea/tratamiento farmacológico , Fiebre Hemorrágica de Crimea/epidemiología , Fiebre Hemorrágica de Crimea/virología , Humanos , Lactante , Recién Nacido , Masculino , Factores de Riesgo , Factores Sexuales , Mordeduras de Garrapatas , Turquía/epidemiología
16.
Pediatr Diabetes ; 13(6): e22-5, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21545677

RESUMEN

Methylmalonic acidemia (MMA) is an inherited organic acidemia usually present with recurrent episodes of acute illness. A typical episode is ushered in with ketonuria and vomiting, followed by acidosis, dehydration, and lethargy, leading, in the absence of aggressive treatment, to coma and death. We report an infant with MMA presented with diabetes symptoms. A 13-month-old girl complained of polydipsia, diuresis, and loss of weight. She had clinical signs of diabetic ketoacidosis such as dehydration, deep sighing respiration, smell of ketones, lethargy, and vomiting. Laboratory analysis showed hyperglycemia with acidosis and ketonuria. She was treated with parenteral fluid, electrolyte, and insulin infusion. Two days after her discharge, after having a meal rich in protein, she was brought unconscious with hepatomegaly, severe acidosis, ketonuria, and mild hyperammonemia. The absence of hyperglycemia and the presence of neurologic findings suggested organic acidemia. MMA was diagnosed because of methylmalonic aciduria and elevated C3 carnitine esters. Cranial magnetic resonance imaging (MRI) showed increased uptake of radiocontrast material in the basal ganglia bilaterally. A homozygous mutation in exon 4 of the MMAA gene was found in mutation analysis and confirmed the diagnosis of cblA-deficient MMA. Neurologic regression was improved with treatment of low-protein diet, vitamin B12, and l-carnitine. In patients born to consanguineous parents who admit during infancy with severe acidosis refractory to treatment, organic acidemias should be kept in mind, even they have high blood glucose. The definitive diagnosis is important because it may allow a specific treatment and a favorable evolution to prevent the sequelae.


Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Cetoacidosis Diabética/diagnóstico , Errores Innatos del Metabolismo de los Aminoácidos/dietoterapia , Errores Innatos del Metabolismo de los Aminoácidos/genética , Errores Innatos del Metabolismo de los Aminoácidos/terapia , Carnitina/uso terapéutico , Diagnóstico Diferencial , Dieta con Restricción de Proteínas , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Proteínas de Transporte de Membrana Mitocondrial/genética
17.
J BUON ; 16(2): 257-64, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21766495

RESUMEN

PURPOSE: Treatment outcomes and prognostic features of a specific cancer generally come from prospective randomized studies. It seems reasonable to ask the question whether the results of prospective randomized studies entirely reflect the results of the population treated in "real world" practice. Therefore we performed a retrospective cohort analysis in order to find out the efficacy of adjuvant chemotherapy as well as the prognostic factors of our patient population treated in daily practice, and compared these findings with those defined in the prospective studies. METHODS: Data of patients with high risk stage II and all stage III colon cancers treated with adjuvant chemotherapy were retrospectively analyzed. RESULTS: A total of 190 patients were retrospectively analyzed. The rates of T2, T3, and T4 tumors were 4.2, 77.9, and 17.9%, respectively. Over 35% of the patients had stage II disease. Of the 5- fluorouracil (5-FU)-based chemotherapy group (n=141), 15% had a dose reduction because of toxicity and 73% were given the total planned dose and cycles, whereas these rates were 18.5 and 66% for oxaliplatin+5-FU treated group, respectively (p=0.66 and 0.44, respectively). The 3-year disease-free survival (DFS) and 5-year cancer-specific overall survival (OS) for all patients were 69.4 and 73%, respectively. In multivariate analysis, cancer-specific OS showed significant correlation with T stage (p=0.015) and with perineural invasion (p=0.024). Also patients ≥ 65 years old had significantly lower OS (p= 0.003) CONCLUSION: This study is the fi rst to report the efficacy of adjuvant treatment in a curatively resected Turkish colon carcinoma population treated in "real world" practice. Our study showed that the treatment results and the prognostic parameters of Turkish colon carcinoma patients treated in "real world" practice are not different from those of selected patients treated in randomized prospective studies.


Asunto(s)
Adenocarcinoma/tratamiento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias del Colon/tratamiento farmacológico , Adenocarcinoma/secundario , Adulto , Anciano , Anciano de 80 o más Años , Quimioterapia Adyuvante , Estudios de Cohortes , Neoplasias del Colon/patología , Femenino , Fluorouracilo/administración & dosificación , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Estudios Multicéntricos como Asunto , Compuestos Organoplatinos/administración & dosificación , Oxaliplatino , Pronóstico , Estudios Prospectivos , Ensayos Clínicos Controlados Aleatorios como Asunto , Estudios Retrospectivos , Tasa de Supervivencia
19.
J Pediatr Adolesc Gynecol ; 23(5): 285-9, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20537572

RESUMEN

OBJECTIVE: Some points of pathogenesis in polycystic ovarian syndrome (PCOS) are still unknown. In this study we evaluated the characteristics of this disease and its relationship with ghrelin in adolescence. DESIGN: A prospective case control study was designed. Four groups: obese PCOS (n = 13), lean PCOS (n = 13), obese control (n = 10) and lean control (n = 10) were formed. Oral glucose tolerance tests (OGTT) were performed on all subjects. Laboratory and clinical features of groups were compared. SETTING: University pediatric endocrinology clinic. PARTICIPANTS: Adolescents with PCOS. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Insulin resistance, ghrelin, delta ghrelin (difference of ghrelin between basal and 120(th) minute after OGTT), androgens RESULTS: Insulin resistance ratios were 93.3%, 46.6%, 50% in obese PCOS, lean PCOS and obese controls respectively. Ghrelin levels were lower in obese PCOS group but statistically different only between obese and lean PCOS groups. Ghrelin was correlated negatively with HOMA-IR (P < 0.001), 17 OH progesterone (P = 0.05), total (P = 0.015) and free testosterone (P = 0.013). Ghrelin suppression was blunted in PCOS groups. Ghrelin suppression ratios after glucose load were 24.4%, 28.7%, 36%, 35% obese PCOS, lean PCOS, obese control and lean control groups respectively. CONCLUSION: Low ghrelin levels in obese PCOS patients, correlations between insulin resistance, androgens and ghrelin, blunted suppression of ghrelin after glucose load in PCOS have been considered as evidences of ghrelin role in pathogenesis of this syndrome.


Asunto(s)
Ghrelina/metabolismo , Resistencia a la Insulina/fisiología , Obesidad/metabolismo , Síndrome del Ovario Poliquístico/metabolismo , Adolescente , Estudios de Casos y Controles , Femenino , Prueba de Tolerancia a la Glucosa , Humanos , Estudios Prospectivos , Delgadez/metabolismo
20.
Thorac Cardiovasc Surg ; 57(6): 333-8, 2009 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19707974

RESUMEN

BACKGROUND: Reoperations for bypass surgery increase the need for new grafts. We investigated early changes in both the normal human saphenous vein and in ectatic varicose veins externally supported by PTFE (polytetrafluoroethylene) graft and exposed to arterial pressure in an IN VITRO non-pulsatile flow model. MATERIAL AND METHODS: A total of 24 saphenous vein pieces (11 of them normal, the other 13 with varicosities) with a length of 6 centimeters were divided into equal parts; half of these parts were wrapped in PTFE grafts. All vein parts were placed in a perfusion circuit. Tissue biopsies were obtained from the vein segments. Light and electron microscopy examinations were performed, and endothelial continuity, elastic laminate continuity, medial connective tissue uniformity, medial smooth muscle uniformity, and adventitial connective tissue uniformity parameters were identified. RESULTS: All parameters in the PTFE protected vein groups were better. The fewest morphological changes among all four groups were detected in the vein walls from normal veins with PTFE protection. There was no significant difference in endothelial continuity and adventitial connective tissue uniformity between the normal vein group and the varicose vein group with PTFE protection. CONCLUSIONS: It is suggested that supporting vein grafts externally with PTFE sufficiently protects the vein walls against damage from exposure to arterial pressure. If varicose veins are used as arterial grafts, supporting them with PTFE may be useful because of the good protection of endothelial and medial connective tissues, resulting in similar parameters to those of normal vein walls.


Asunto(s)
Presión Sanguínea , Implantación de Prótesis Vascular/instrumentación , Prótesis Vascular , Vena Safena/cirugía , Várices/cirugía , Puente Cardiopulmonar , Tejido Conectivo/cirugía , Tejido Conectivo/ultraestructura , Endotelio Vascular/cirugía , Endotelio Vascular/ultraestructura , Humanos , Ensayo de Materiales , Músculo Liso Vascular/cirugía , Músculo Liso Vascular/ultraestructura , Politetrafluoroetileno , Diseño de Prótesis , Vena Safena/fisiopatología , Vena Safena/ultraestructura , Várices/patología , Várices/fisiopatología
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