RESUMEN
Fifty-one cases of Hodgkin's disease in Turkish children under 15 years of age were clinically analyzed, and 40 cases were evaluated histopathologically according to the Rye Conference classification. Complete clinical, laboratory, and radiologic findings for each patient were examined. Most patients were of low socioeconomic class, and nearly all were Caucasian. The most common presenting clinical sign was cervical lymph node enlargement; hepatosplenomegaly was noted in 18 patients. Nearly three times as many males as females were found among the patients whose diseases were histologically analyzed, and most of the children with Hodgkin's disease were in the first decade of life. Classification of the cases revealed a predominance (67.5%) of the mixed cellularity (MC) type. Of 40 patients analyzed, 34 had disease in clinical stage IV, mostly of the MC type. The data indicated a correlation of the high incidence of the MC type of Hodgkin's disease with the socioeconomic and environmental conditions in Turkey.
Asunto(s)
Enfermedad de Hodgkin/patología , Adolescente , Factores de Edad , Niño , Preescolar , Femenino , Enfermedad de Hodgkin/epidemiología , Humanos , Lactante , Ganglios Linfáticos/patología , Masculino , Cuello , Factores Sexuales , Factores Socioeconómicos , TurquíaRESUMEN
In this study the hair zinc levels of 115 healthy subjects, 50 girls and 65 boys, between the age groups 0 to 15 years were determined by using atomic absorption spectrophotometry. The hair zinc levels obtained generally agree with those reported in the literature. The hair zinc levels of the subjects were studied as a function of age, sex and color of hair. It was found that the levels of hair zinc increased as a function of age, whereas no statistically significant differences with respect to sex and color of hair were observed. In a protein-calorie malnourished group of 11 girls and six boys between the ages 0 to 3 years, it was found that the hair zinc levels were significantly higher than a group of healthy subjects of the same age range. In a protein-calorie malnourished group of seven subjects no correlation was found between hair zinc and serum levels.
Asunto(s)
Cabello/análisis , Desnutrición Proteico-Calórica/metabolismo , Zinc/análisis , Adolescente , Envejecimiento , Niño , Preescolar , Femenino , Color del Cabello , Humanos , Lactante , Masculino , Zinc/sangreRESUMEN
The complete control of steatorrhea in post-surgical exocrine pancreatic insufficiency is difficult. The aim of this study was to evaluate the effect of the association of ranitidine with pancrelipase om fecal fat excretion in patients who had undergone a pancreatoduodenectomy with suppression of the exocrine pancreatic secretion by Neoprene injection. Ten patients were studied 1 year after surgery. Steatorrhea was measured as an integrated test of 3-day stools, while patients were kept on a diet of 100 g lipid/day, with their usual enzyme supplementation therapy (16,050 USP units of lipase/meal). A basal 24-h gastroenteric pH profile was also obtained. In the following month, patients had ranitidine (150 mg twice a day) in addition to pancrelipase. Then steatorrhea and gastroenteric pH were reassessed. Mean fecal fat was 26.9 (SD 13.7) g/day without ranitidine and 30.5 (SD 13.9) g/day during combined treatment. Body weight and nutritional parameters did not show any significant variation after ranitidine administration. Even in the absence of ranitidine, postprandial gastroenteric pH values were always > 4; the H2-receptor antagonist only reduced fasting gastric acidity. In conclusion, the gastroenteric pH and fecal fat determinations showed that ranitidine is not useful in patients with total postsurgical exocrine pancreatic insufficiency.
Asunto(s)
Grasas de la Dieta/metabolismo , Sistema Digestivo/fisiopatología , Insuficiencia Pancreática Exocrina/tratamiento farmacológico , Antagonistas de los Receptores H2 de la Histamina/uso terapéutico , Absorción Intestinal/fisiología , Páncreas/efectos de los fármacos , Adulto , Anciano , Digestión/fisiología , Insuficiencia Pancreática Exocrina/etiología , Insuficiencia Pancreática Exocrina/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estado Nutricional , Páncreas/enzimología , Pancreaticoduodenectomía , Complicaciones PosoperatoriasRESUMEN
Common mutations in three genes (MTHFR 677 C-T; MS 2756 A-G; CBS Exon 8,844 ins 68) in homocysteine metabolism have been shown to cause increased plasma homocysteine levels thus causing a predisposition to thrombosis. FV 1691 G-A mutation, which is very common in the Turkish population, was also studied. As there is no existing data in the Turkish population, we aimed to study these mutations in patients with thrombosis and normal controls. The case-control study included 52 patients with the diagnosis of deep vein thrombosis (DVT) and 106 controls, consecutively selected among subjects without personal and family history of atherothrombosis. Patients with DVT were selected if Doppler ultrasonography was positive. The comparison of FV 1691 G-A mutation revealed statistically significant difference in control and DVT group. Risk assessment of double prothrombotic gene alterations indicated only FV 1691 G-A mutation as an independent risk factor for thrombosis, but our data suggested that MTHFR 677 has little effect on its own but may have synergy with FV 1691 G-A. Other possible risk genotypes at the homocysteine pathway did not have a significant effect on thrombosis. Furthermore, being heterozygote at two different loci or homozygosity at least in one locus also did not reveal a significant difference between these two groups in our population.
Asunto(s)
Predisposición Genética a la Enfermedad , Mutación , Trombosis/genética , Estudios de Casos y Controles , Homocisteína/genética , Homocisteína/metabolismo , Humanos , Trombosis/epidemiología , Trombosis/metabolismo , Turquía/epidemiologíaRESUMEN
Possible effect of three common mutations in (MTHFR 677 C-T; 1317 T-C; 1298 C-A) and FV 1691 G-A mutation was studied in Turkish patients with thrombosis and compared with normal controls. The case-control study included 68 patients with the diagnosis of deep vein thrombosis and 66 controls, consecutively selected among subjects without personal and familial history of atherothrombosis. Patients with deep vein thrombosis were selected if Doppler ultrasonography was positive. Only, the comparison of factor V 1691 G-A mutation revealed statistically significant difference in control (6.06%) and deep vein thrombosis (23.5%) group. Risk assessment of double prothrombotic gene alterations revealed only FV 1691 G-A mutation as an independent risk factor for thrombosis (odds ratio 4.7 [1.5-15.0]), but our data suggested that MTHFR 677 has effect on its own (odds ratio 1.97 [0.6-2.7]) but may have synergy with FV 1691 G-A (odds ratio 8.12 [2.0-25.3]). However, MTHFR 1298 A-C and 1317 T-C does not have any effect; furthermore, being heterozygote at two different loci or homozygosity at least in a locus for 677 and 1298 revealed a significant increase (odds ratio 9 and 24 [1.3-59.3 and 2.3-240.3]) between these two groups.
Asunto(s)
Factor V/efectos de los fármacos , Factor V/genética , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH/genética , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH/farmacología , Trombosis de la Vena/epidemiología , Trombosis de la Vena/genética , Estudios de Casos y Controles , Frecuencia de los Genes , Homocigoto , Humanos , Metilenotetrahidrofolato Reductasa (NADPH2) , Mutación Missense , Mutación Puntual , Factores de Riesgo , Turquía/epidemiología , Trombosis de la Vena/sangreRESUMEN
A decreased fibrinolytic activity due to increased levels of plasminogen activator inhibitor-1 has been shown in deep vein thrombosis patients. Elevated plasma plasminogen activator inhibitor-1 levels are associated with the 4G allele of a 4G/5G polymorphism located in the promoter region of the plasminogen activator inhibitor-1 gene. Because there is no existing data in the Turkish population, we aimed to study these mutations in patients with deep vein thrombosis (n = 136) and normal controls (n = 113), consecutively selected among unrelated healthy subjects without personal and familial history of atherothrombosis from Ankara, Turkey. DNA was extracted by conventional methods, and polymerase chain reaction of the plasminogen activator inhibitor-1 4G/5G polymorphism was performed according to a previously described method. Genotype distributions of FV 1691G-A and plasminogen activator inhibitor-1 4G/5G are as follows: plasminogen activator inhibitor-1 4G (patients) 0.562, plasminogen activator inhibitor-1 4G (controls) 0.50 (p = 0.6); FV1691A (patients) 0.147, FV1691A (controls) 0.035 (p = 0.005). Our data indicated that plasminogen activator inhibitor-1 4G/5G does not have an effect on the thrombotic risk. Carrying the 4G allele either in heterozygous or homozygous state increases the risk in the presence of FV1691A (odds ratio: 9.8 and 6.9, confidence interval 95% 2.9-32.7 and 1.3-35.8). FV1691A is an independent risk factor for thrombosis (odds ratio: 5.5, confidence interval: 95% 2.5-12.1). We concluded that coexistence of FV1691A and plasminogen activator inhibitor-1 4G allele leads to an increased risk for thrombosis leading a further evidence to another prothrombotic factor that may be necessary for the development of a manifest thrombotic event.
Asunto(s)
Factor V/genética , Inhibidor 1 de Activador Plasminogénico/genética , Polimorfismo Genético , Trombosis de la Vena/genética , Adulto , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Humanos , Mutación , Inhibidor 1 de Activador Plasminogénico/metabolismo , Factores de Riesgo , TurquíaRESUMEN
15 young healthy volunteers were studied to assess the reliability of bioelectrical impedance analysis (BIA) to determine body composition during acute dehydration. Body weight (BW), resistance and reactance measurements were performed before and 4h after a 40 mg intravenous administration of furosemide. BW decreased on average from 69.09 +/- 9.83 kg to 67.43 +/- 9.72 kg (p < 0.001), while resistance, reactance, and phase angle showed significant increases. The individual variations in bioelectrical parameters were not related to the BW loss. Formulae to derive body composition predicted poorly the true water loss (mean individual error: 40% of real loss). The errors in body composition prediction were unrelated to basal percentage of fat free mass, to body mass index, or to BW loss after furosemide administration. In conclusion, BIA proved unreliable in calculating the body composition of acutely dehydrated subjects.
RESUMEN
We present the protein C gene analysis of a patient with homozygous protein C deficiency. The patient was referred with purpura fulminans 3 h after birth. Skin necroses had developed on the scalp, abdomen and upper extremities when he was two days old. His protein C activity was 0.03-0.05 IU/ml and the levels in his consanguineous parents were 0.32 and 0.40 IU/ml. He was treated initially with fresh frozen plasma, and later with daily oral anticoagulants, for two episodes of skin necrosis. He had three more episodes of skin necroses that were treated with intravenous protein C concentrate. He is now two years old and under treatment with daily coumarin 0.1-0.2 mg/kg per day to keep the International Normalized Ratio between 2.0-4.5. DNA analysis showed that he is homozygous for a double variant bearing His 202 to Tyr and Ala 346 to Thr mutations. His parents were each heterozygous for the double variant and were consanguineous. This mutation has been reported previously in an Austrian patient but this is the first homozygous case for this double variant.
Asunto(s)
Sustitución de Aminoácidos/genética , Variación Genética/genética , Deficiencia de Proteína C , Proteína C/genética , Alanina/genética , Secuencia de Bases , Consanguinidad , Histidina/genética , Homocigoto , Humanos , Recién Nacido , Masculino , Mutación/genética , Linaje , Treonina/genética , Tirosina/genéticaRESUMEN
Four hundred twenty-two cancer patients who underwent major surgery were studied. At admission, nutritional status was evaluated in all patients by assessing serum albumin (SA), total iron-binding capacity (TIBC), total lymphocyte count (TLC), serum cholinesterase activity (CHE), and weight loss (WL). All patients received perioperative short-term antibiotic prophylaxis and postoperative total parenteral nutrition. Prognostic ability of nutritional indicators was assessed by receiver-operating characteristic (ROC) curve analysis. The area beneath the ROC curve (Az) is an index of predictor performance when its value ranges from 0.5 (chance performance) to 1 (perfect prediction). Specificity, sensitivity, Youden index, and predictive values were determined for each nutritional parameter within a wide range of potential threshold values. Postoperative septic complications were observed in 85 (20.14%) patients. The Az values for the considered nutritional parameters ranged from 0.52 to 0.57 and that showed the low predictive ability of the parameters. When sensitivity and specificity for each nutritional parameter were examined at different thresholds, a clearly more predictive cutpoint was not observed, but ranges of values with a similar predictivity were observed. Significant ranges of predictivity were found for SA (33 to 35 g/L), for TIBC (2200 to 2300 micrograms/L), for TLC (2100 to 2200 million/L), for CHE (1700 to 1900 U/L), and for WL (7% to 12%). The higher values of Youden index were as follows: 1.183 for WL (cutoff 11%), 1.150 for TLC (cutoff 2100 million/L), and 1.145 for SA (cutoff 35 g/L). In conclusion, ROC curve analysis showed that the nutritional parameters had a low predictive ability.(ABSTRACT TRUNCATED AT 250 WORDS)
Asunto(s)
Neoplasias/cirugía , Estado Nutricional , Adulto , Anciano , Anciano de 80 o más Años , Colinesterasas/sangre , Neoplasias del Colon/fisiopatología , Neoplasias del Colon/cirugía , Neoplasias Esofágicas/fisiopatología , Neoplasias Esofágicas/cirugía , Femenino , Humanos , Hierro/sangre , Recuento de Leucocitos , Linfocitos , Masculino , Persona de Mediana Edad , Neoplasias Pancreáticas/fisiopatología , Neoplasias Pancreáticas/cirugía , Pronóstico , Unión Proteica , Neoplasias del Recto/fisiopatología , Neoplasias del Recto/cirugía , Albúmina Sérica/metabolismo , Neoplasias Gástricas/fisiopatología , Neoplasias Gástricas/cirugía , Pérdida de PesoRESUMEN
Mutations in the GJB2 (connexin 26-Cx26) gene are responsible for 20-50% of cases with prelingual non-syndromic deafness in a large part of the world including Turkey. Although most of the cases with Cx26 deafness have a recessive mode of inheritance, a small group of families demonstrated dominant or pseudodominant inheritance. In this report we present a Turkish family in which the proband had congenital profound deafness and was found to be homozygous for the 35delG mutation, whereas the father and a paternal uncle who had milder, late-onset sensorineural hearing loss had compound heterozygous 35delG and L90P mutations. This family and previous reports with the L90P mutation demonstrate that the hearing loss associated with the L90P/35delG genotype is consistently milder than that of 35delG homozygotes. GJB2 gene screening should be considered in families with seemingly dominant inheritance and late-onset moderate hearing loss.
Asunto(s)
Conexinas/genética , Pérdida Auditiva Sensorineural/genética , Mutación , Adulto , Preescolar , Conexina 26 , Femenino , Asesoramiento Genético , Humanos , Patrón de Herencia , Masculino , Linaje , TurquíaRESUMEN
Selenium concentrations, in blood plasma, red blood cells, hair of 61 healthy children, ages 0-14 yr, were determined using hydride generation atomic absorption spectrometry. Starting from late lactation period, selenium concentrations in all these matrices were found to be increasing with age. A good correlation was found between erythrocyte and plasma, hair and plasma, and hair and erythrocyte selenium concentrations. Although plasma, erythrocyte, and hair selenium concentrations of girls seemed to be higher than that of boys (only in erythrocytes), selenium concentrations of girls were found to be significantly (p < 0.002) higher than that of boys, 71 +/- 9 ng/mL, vs 65 +/- 10 ng/mL, respectively. Selenium status of Turkish children is found to be lower than that found in the literature; marginal selenium deficiency could be important in the development of some selenium deficiency related diseases. There is a need for extension of this study to healthy children from different regions in Turkey and to different disease states.
Asunto(s)
Eritrocitos/metabolismo , Cabello/metabolismo , Selenio/sangre , Adolescente , Envejecimiento/sangre , Envejecimiento/metabolismo , Envejecimiento/orina , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Análisis de Regresión , Selenio/metabolismo , Selenio/orina , Espectrofotometría Atómica , TurquíaRESUMEN
This study was performed to determine the effectiveness of the Breese scoring system for the diagnosis of streptococcal pharyngitis with respect to different age groups. Two hundred and two children aged three years and younger (Group 1), and 514 children over three years old (Group 2) with complaints of acute pharyngitis were evaluated by Breese scoring and throat-swab cultures. In Group 1, no significant difference was detected in Breese scoring between subjects who had positive and negative culture for group A beta-hemolytic streptococci (GABHS). However, in Group 2 the mean value of the Breese scores was found to be higher in subjects who had positive GABHS. The diagnostic value of Breese scoring was examined for each group. Its sensitivity, and positive and negative predictive values were higher in Group 2 than in Group 1. In conclusion, Breese scoring was determined to be helpful in the diagnosis of streptococcal pharyngitis in children over three years of age.
Asunto(s)
Faringitis/diagnóstico , Infecciones Estreptocócicas/diagnóstico , Streptococcus pyogenes/aislamiento & purificación , Adolescente , Factores de Edad , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Faringitis/microbiología , Faringe/microbiología , Valor Predictivo de las Pruebas , Sensibilidad y Especificidad , Infecciones Estreptocócicas/microbiologíaRESUMEN
We evaluated the efficacy of an oral artificial supplementation in 22 patients who underwent surgery for gastric or pancreatic cancer. From 8th to 14th postoperative day, 11 patients (cases) received a diet consistent in their REE, and an oral integrator (40% of REE); controls received only the diet. On 7th and 15th day, nutritional and anthropometric parameters were evaluated, and bioelectrical impedance analysis (BIA) was performed to assess body composition. The dietary caloric input was similar in cases (1154 kcal, 86.0% of REE) and controls (1393 kcal, 92.3% of REE). Due to the integrator, cases reached 121.4% of REE (p less than 0.001). The nutritional and anthropometric parameters studied did not show significant variations in the two groups, but BIA showed a decrease of fat mass in controls with respect to cases (p less than 0.02). Our results demonstrate that the oral artificial supplementation was well tolerated, and did not reduce food intake, but induced a significant increase of total caloric input.
Asunto(s)
Dietoterapia , Gastrectomía/rehabilitación , Pancreaticoduodenectomía/rehabilitación , Cuidados Posoperatorios , Adulto , Anciano , Anciano de 80 o más Años , Composición Corporal , Ingestión de Energía , Estudios de Evaluación como Asunto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estado Nutricional , Neoplasias Pancreáticas/dietoterapia , Neoplasias Pancreáticas/cirugía , Neoplasias Gástricas/dietoterapia , Neoplasias Gástricas/cirugía , Factores de TiempoRESUMEN
Meningitis due to Acinetobacter calcoaceticus is rare. These rare bacteria were isolated from culture fluid in patient resembling to Neisseria meningitis with clinical and laboratory findings. The patient was treated with sensitive antibiotic.
Asunto(s)
Infecciones por Acinetobacter/diagnóstico , Meningitis/diagnóstico , Humanos , Meningitis/etiologíaRESUMEN
There different RFLP's on the p53 gene were studied in a healthy Turkish population. These RFLP's were located on the exon 4 (CD 47), exon 6 (CD 213) and intron 6 (A-G). CD 47 (C-T) was not present. CD 213 (G) occurred very rarely with a frequency of 0.0114. The frequency of the Int 6 A/G a alteration was found to be 0.70 for "G". The heterozygosity rate was 32.72%.
RESUMEN
A three-year old Turkish girl having both homozygous ß-thalassemia and hereditary spherocytosis and her family have been studied. The molecular defect causing thalassemia in the family was of the frame shift codon 8 (-AA) mutation type. The diagnosis of hereditary spherocytosis is based on osmotic fragility test in the patient and the family. However, the examination of erythrocyte membrane proteins has not been possible. ßthalassemia is in the heterozygous form in the mother, the father, and in two sisters. The mother, the father, and one of the sisters also have hereditary spherocytosis in addition to thalassemia. All those family members are asymptomatic. However, the patient who has frame shift codon 8 homozygosity along with hereditary spherocytosis presented with a severe form of hemolytic anemia.
RESUMEN
Thromboembolic episodes are quite rare in beta thalassemia major patients although there is a tendency for thrombosis in haemolytic anaemias. We report a patient with cerebral thromboembolic episode triggered by a minor blood group incompatibility in which the underlying defect of factor V 1299 (His-Arg) was detected three years after his death.