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1.
Paediatr Perinat Epidemiol ; 26(1): 53-60, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22150708

RESUMEN

Although Turkey is located in a sunny region, vitamin D deficiency is still a serious health problem in pregnant women and their infants, especially among the low socio-economic status Turkish population. This study was carried out in order to measure serum 25-hydroxyvitamin D3 [25(OH)D] concentrations of the pregnant women in the last trimester and in their neonates at delivery and to determine the factors associated with maternal serum 25(OH)D concentrations. Among the patients visiting the Ege Obstetrics and Gynecology Hospital in the period March to May 2008, 258 healthy pregnant women ≥37 weeks of gestation were included in this study. The information on different characteristics such as the number of pregnancies and births, nutritional status, vitamin and mineral support during gestation, educational status, clothing style and the economic level of the family was collected from women. Blood samples from the mothers and umbilical cord of the newborns were taken to measure 25(OH)D. The mean 25(OH)D concentrations of the mothers and their infants were 11.5 ± 5.4 ng/mL and 11.5 ± 6.8 ng/mL, respectively. We found a strong positive correlation between maternal serum and umbilical cord blood 25(OH)D concentrations (r = 0.651, P < 0.001). The concentration of 25(OH)D was ≤20 ng/mL in 233 mothers (90.3%) and ≤10 ng/mL in 130 mothers (50.4%). Maternal serum 25(OH)D concentrations related strongly to factors such as uncovered dressing style, sufficient consumption of dairy products and multivitamin use during gestation (P < 0.05). About half (52.7%) of these women had a covered dressing style. 25(OH)D concentrations of these covered dressing mothers and their infants were 9.7 ± 5.1 ng/mL and 9.7 ± 5.6 ng/mL, respectively, which were significantly lower compared with those of uncovered mothers and their babies (P < 0.001). This study showed that, despite a sunny environment, vitamin D deficiency and insufficiency are highly prevalent among the mothers and their neonates. This is generally due to the life style and nutritional status of the mothers. These findings suggest that much more effective vitamin D prophylaxis programmes should be implemented for pregnant women as well as for their babies.


Asunto(s)
Deficiencia de Vitamina D/sangre , Vitamina D/sangre , Adolescente , Adulto , Vestuario , Escolaridad , Femenino , Sangre Fetal , Humanos , Lactante , Recién Nacido , Fenómenos Fisiologicos Nutricionales Maternos , Intercambio Materno-Fetal , Embarazo , Estaciones del Año , Factores Socioeconómicos , Luz Solar , Turquía/epidemiología , Deficiencia de Vitamina D/epidemiología , Adulto Joven
2.
Int J Vitam Nutr Res ; 81(5): 328-34, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22419203

RESUMEN

AIM: Nutritional vitamin B12 deficiency in infants may occur because the maternal diet contains inadequate animal products. Clinical presentations of the infants who had nutritional vitamin B12 deficiency were analyzed in this study. SUBJECTS AND METHODS: Patients with nutritional vitamin B12 deficiency were enrolled in the study between 2003 and 2010. The diagnosis was based on a nutritional history of mothers and infants, clinical findings, hematological evaluation, and low level of serum vitamin B12. RESULTS: Thirty children aged 1 - 21 months constituted the study group. Poverty was the main cause of inadequate consumption of animal products of the mothers. All infants had predominantly breastfed. The most common symptoms were developmental delay, paleness, apathy, lethargy, anorexia, and failure to thrive. Hematological findings were megaloblastic anemia (83.3 %), thrombocytopenia (30 %), and severe anemia (13.3 %). All of the mothers had low serum B12 levels; eight of them had megaloblastic anemia. CONCLUSION: The unusual clinical manifestations of vitamin B12 deficiency may also be seen apart from neurological and hematological findings. Nutritional vitamin B12 deficiency due to maternal deficiency might be a serious health problem in infants. Therefore, screening and supplementation of pregnant and lactating women to prevent infantile vitamin B12 deficiency should be considered.


Asunto(s)
Dieta , Bienestar Materno , Deficiencia de Vitamina B 12/epidemiología , Anemia Megaloblástica/epidemiología , Anemia Megaloblástica/etiología , Femenino , Humanos , Lactante , Lactancia , Masculino , Desnutrición/complicaciones , Madres , Pobreza , Embarazo , Deficiencia de Vitamina B 12/etiología , Deficiencia de Vitamina B 12/prevención & control
3.
Pediatr Transplant ; 14(1): 82-6, 2010 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-19490485

RESUMEN

We analyzed infections that occurred within one month prior to LT, identified factors associated with their occurrence and effect of infections on post-transplant mortality. The study group included 40 consecutive children who underwent LT. Sites and types of infection and culture results were recorded prospectively. IID was assessed. Risk factors for the infectious events were analyzed. Forty infection episodes were found in 24 patients (60%); 90% were bacterial, 7.5% fungal, and 2.5% viral. Overall, IID was 38.2 per 1000 patient days. Sites of bacterial infection were urinary tract in 13 events (36.1%) and blood stream in 11 events (30.5%). Bacteremia (culture positive infection episodes) was identified in 19 events (52.7%). Gram-negative isolates were twice as frequent as Gram-positive infections (63.1% vs. 36.9%). Risk factors for the infectious complications were young age, low body weight, prior abdominal surgery, chronic liver disease related to biliary problems, presence of ascites, portal hypertension and cirrhosis, and high PELD score (p < 0.05 for all). Infectious complications in pediatric LT candidates are common. Preventive measures are important not only to reduce the infectious complications but also to prevent the post-operative mortality.


Asunto(s)
Infecciones/etiología , Trasplante de Hígado/efectos adversos , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Infecciones/epidemiología , Fallo Hepático/cirugía , Masculino , Morbilidad/tendencias , Complicaciones Posoperatorias , Pronóstico , Estudios Prospectivos , Tasa de Supervivencia/tendencias , Turquía/epidemiología
4.
Pediatr Dermatol ; 27(2): 214-5, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-19686301

RESUMEN

Acute hemorrhagic edema of infancy is a rare vasculitic syndrome affecting young children. Although presentation is dramatic and striking, it is a benign disorder. A 9-month-old boy with fever, rhinorrhea, edema, and purpuric lesions involving the face, oral mucosa, ears, and extremities was presented.


Asunto(s)
Edema/diagnóstico , Fiebre/diagnóstico , Hemorragia/diagnóstico , Vasculitis/diagnóstico , Edema/patología , Hemorragia/patología , Humanos , Lactante , Masculino , Otitis Media/tratamiento farmacológico , Púrpura/diagnóstico , Púrpura/patología , Infecciones del Sistema Respiratorio/complicaciones , Subtilisina/uso terapéutico , Vasculitis/patología
5.
Mol Genet Metab ; 96(1): 50-1, 2009 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-19006678

RESUMEN

Insulin resistance have been demonstrated in untreated patients with Gaucher type I disease. It was implied in overweight enzyme replacement therapy (ERT) treated patients with Gaucher type I disease. In present study we investigate whether insulin resistance is presented in fourteen ERT treated patients with Gaucher type I disease and without overweight in comparison to normal subjects. This work illustrates the presence of insulin resistance in non-overweight ERT treated patients with Gaucher type I disease.


Asunto(s)
Enfermedad de Gaucher/tratamiento farmacológico , Enfermedad de Gaucher/enzimología , Glucosilceramidasa/uso terapéutico , Resistencia a la Insulina , Sobrepeso , Adulto , Estudios Transversales , Femenino , Glucosilceramidasa/genética , Humanos , Masculino , Mutación , Proyectos Piloto
6.
Pediatr Transplant ; 13(8): 1034-40, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19210266

RESUMEN

ALF is characterized by sudden onset, impaired liver function, jaundice and encephalopathy, without previous liver disease. We analyzed the patients who underwent LT due to toxic agent induced ALF to raise community awareness about preventing the toxic agent induced ALF. Five children (three boys, two girls) underwent LT due to toxic agent ingestion. Toxic agents were mushroom poisoning (n = 2), Datura stramonium (n = 1), yellow phosphorous (n = 1) and INH (n = 1). On admission, one patient had stage IV, two had stage III and two had stage II hepatic encephalopathy but worsened during the follow-up. One patient had renal failure, and three patients required mechanical ventilation. Three patients underwent LRLT and others from a DD. Post-operative complications were managed by supportive managements successfully, and overall all the patients are alive (100% survival) without any organ sequelae. Although outcome of these patients are excellent, ALF may be prevented in these cases by educating the public about consuming mushrooms and toxic effects of wild plants, prohibiting fireworks and serial liver enzyme measurements after initiating INH.


Asunto(s)
Enfermedad Hepática Inducida por Sustancias y Drogas/etiología , Enfermedad Hepática Inducida por Sustancias y Drogas/cirugía , Isoniazida/envenenamiento , Fallo Hepático Agudo/inducido químicamente , Fallo Hepático Agudo/cirugía , Trasplante de Hígado , Intoxicación por Setas/complicaciones , Fósforo/envenenamiento , Adolescente , Niño , Preescolar , Femenino , Humanos , Relación Normalizada Internacional , Pruebas de Función Hepática , Masculino , Resultado del Tratamiento
7.
Turk J Pediatr ; 51(3): 305-7, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19817280

RESUMEN

Periosteal reaction has different etiologies in early infancy. Physiological periostitis is a well-documented X-ray finding seen in both preterm and term babies aged between 1-6 months and can easily be misdiagnosed as child abuse or pathological periostitis. Here, we present a 2.5-month-old infant admitted with a history of fever, swollen right upper arm after vaccination and X-rays findings revealing periosteal reactions on both sides of the humeri, radii, tibiae and femora. Initial diagnosis was child abuse or congenital syphilis. Due to the normal physical findings and normal serological-biochemical data, physiological periostitis was diagnosed. Physiological periostitis should also be considered in patients with periosteal reactions of the long bones in infants aged between 1-6 months.


Asunto(s)
Periostitis/diagnóstico , Periostitis/fisiopatología , Humanos , Lactante , Masculino , Osteogénesis , Periostio/diagnóstico por imagen , Periostio/fisiología , Radiografía
8.
Arch Argent Pediatr ; 116(5): e649-e654, 2018 10 01.
Artículo en Inglés, Español | MEDLINE | ID: mdl-30204991

RESUMEN

The aim of the study to evaluate familial mediterranean fever (FMF) patients with chronic abdominal pain unresponsive to colchicine treatment. Forty-eight patients who diagnosed in our Pediatric Rheumatology clinics and suffering from abdominal pain despite colchicine treatment were include. All patients were referred to a pediatric gastroenterologist. The pain characteristics such as onset, duration and frequency wererecorded; gastrointestinal (GI) endoscopy was planned for differential diagnosis. MEFV mutation was determined in 46 patients. The median duration of treatment was 2.8 years. Approximately 60% of the patients suffered from abdominal pain every day or 2-3 times a week, in 73% of the cases it lasted less than three hours. Forty one patients underwent upper GI endoscopy. Gastroduodenitis is a common finding in persisting abdominal pain despite therapy of FMF patients. The patients with the highest disease severity scores had severe inflammation within the entire GI system.


El objetivo de este estudio fue evaluar a los pacientes con fiebre mediterránea familiar (familial Mediterranean fever, FMF) y dolor abdominal crónico resistentes al tratamiento con colchicina. Se incluyó a 48 pacientes diagnosticados en nuestro consultorio de reumatología pediátrica que tenían dolor abdominal a pesar del tratamiento con colchicina. A todos los pacientes se los derivó a un gastroenterólogo pediátrico. Se registraron las características del dolor, tales como aparición, duración y frecuencia; se planificó una endoscopía digestiva para obtener un diagnóstico diferencial. Se determinó la presencia de una mutación del gen MEFV en 46 pacientes. La mediana de la duración del tratamiento fue de 2,8 años. Aproximadamente el 60% de los pacientes tenían dolor abdominal todos los días o de dos a tres veces a la semana; en el 73% de los casos, duró menos de tres horas. A 41 pacientes se les realizó una endoscopía digestiva alta. La gastroduodenitis es un hallazgo frecuente en los pacientes con FMF y dolor abdominal persistente a pesar del tratamiento. Los pacientes con los puntajes más altos de severidad de la enfermedad tenían inflamación digestiva grave.


Asunto(s)
Dolor Abdominal/etiología , Dolor Crónico/etiología , Colchicina/administración & dosificación , Fiebre Mediterránea Familiar/complicaciones , Dolor Abdominal/epidemiología , Adolescente , Niño , Dolor Crónico/epidemiología , Duodenitis/diagnóstico , Duodenitis/etiología , Endoscopía Gastrointestinal/métodos , Fiebre Mediterránea Familiar/tratamiento farmacológico , Gastritis/diagnóstico , Gastritis/etiología , Humanos , Masculino
9.
Turk J Gastroenterol ; 29(2): 210-214, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29749329

RESUMEN

BACKGROUND/AIMS: Functional constipation is one of the common problems in childhood, and it comprises approximately 5% of the pediatric outpatient clinical applications. On the other hand, celiac disease (CD) is an immune enteropathy with the prevalence between 1/150 and 1/200. In addition to the classical symptoms of the disease such as diarrhea and weight loss, the incidence of atypical symptoms is increasing. This study aims to determine the prevalence of CD in patients with chronic constipation. MATERIALS AND METHODS: The study was conducted between 2010 and 2012 and included 1046 children (range, 2-18 y; median, 11.4 y) diagnosed with chronic constipation according to the Rome III criteria. Serum immunoglobulin A, tissue transglutaminase, and/or anti-endomysial antibodies were examined. The patients with serological positive results were subjected to upper gastrointestinal system endoscopy and duodenal biopsy to confirm the diagnosis of CD. RESULTS: Blood tests were positive in 36 patients (3.25%). One of the patients had Hashimoto's thyroiditis, and 4 patients had short stature. Endoscopic findings included nodularity in bulbus and duodenal mucosa (n=16), scalloping fold (n=13), and normal mucosa (n=5). Histopathologic findings revealed that 10 patients had total villous atrophy, 24 patients had subtotal and partial villous atrophy, and 34 patients had intraepithelial lymphocyte infiltration. All patients followed a gluten-free diet, resulting in a resolution of symptoms. CONCLUSION: In the present study, a CD ratio of 1:28 was diagnosed in chronically constipated children. The use of screening tests for CD should be considered in children with conventional treatment-resistant constipation.


Asunto(s)
Enfermedad Celíaca/diagnóstico , Estreñimiento/diagnóstico , Errores Diagnósticos/estadística & datos numéricos , Adolescente , Autoanticuerpos/sangre , Biopsia , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/epidemiología , Niño , Preescolar , Estreñimiento/etiología , Diagnóstico Diferencial , Duodeno/patología , Femenino , Proteínas de Unión al GTP/sangre , Humanos , Inmunoglobulina A/sangre , Mucosa Intestinal/patología , Masculino , Prevalencia , Proteína Glutamina Gamma Glutamiltransferasa 2 , Transglutaminasas/sangre
10.
Turk J Pediatr ; 60(1): 41-49, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30102478

RESUMEN

Yazici S, Günes S, Kurtulus-Çokboz M, Kemer Ö, Baranli G, Asik-Akman S, Can D. Allergen variability and house dust mite sensitivity in pre-school children with allergic complaints. Turk J Pediatr 2018; 60: 41-49. The increase in the prevalence of allergic diseases in pre-school children who are often at home may be due to an increase in house dust mite sensitivity, which is rarely expected in this age group. In our study, it was aimed to investigate allergen sensitivities, especially house dust mite sensitivity in pre-school children with allergic disease complaints by skin prick test (SPT). Two hundred and twenty children admitted to the Pediatric Allergy and Asthma Clinic of Balikesir University between October 2015 and October 2016 diagnosed with asthma, allergic rhinitis, food allergy, atopic dermatitis or urticaria were involved in the retrospective cross-sectional study. Allergen groups used in SPT were Dermatophagoides farina (Derf), Dermatophagoides pteronyssinus (Der p), Alternaria alternata, cat epithelium, pollen mixture and food mixture. Average age of the 220 patients was 2.98 years (2.75-3.21). SPT was positive in 55.9% of patients. Sixteen percent were monosensitized and 73.8% were polysensitized. Seventy two children (32.7%) were sensitive to Der f and 67 (30.4%) were sensitive to Der p. There was no difference between SPT positivity and gender (p > 0.05). Ninty-five children were diagnosed with asthma, 38 with asthma and allergic rhinitis, 63 with food allergy and 24 with urticaria and/or atopic dermatitis. SPT positivity was significantly higher in the asthma and allergic rhinitis group than other groups. As the age increased, significant increases in the sensitivities of Der f (p < 0.01), Der p (P < 0.01) and A. alternata (p < 0.05) and a significant decrease for food panel sensitivity (p < 0.01) were detected. Even though skin and food allergies were included in our study, house dust mite sensitivity was found much higher than other studies reporting ranges between 3.5-23% in children of the same age group with mainly respiratory complaints. It is concluded that the probable reasons for this increase, especially geographical features, should be investigated in different areas and in larger number of studies.


Asunto(s)
Alérgenos/inmunología , Antígenos Dermatofagoides/inmunología , Hipersensibilidad Inmediata/inmunología , Pyroglyphidae , Animales , Asma/inmunología , Gatos , Preescolar , Estudios Transversales , Dermatitis Atópica/inmunología , Femenino , Hipersensibilidad a los Alimentos/inmunología , Humanos , Hipersensibilidad Inmediata/epidemiología , Masculino , Polen/inmunología , Prevalencia , Estudios Retrospectivos , Pruebas Cutáneas , Turquía/epidemiología , Urticaria/inmunología
11.
Antivir Ther ; 11(2): 255-61, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-16640106

RESUMEN

AIM: To evaluate the efficacy of two regimens of combined interferon-alpha2a (IFN-alpha2a) and lamivudine (3TC) therapy in childhood chronic hepatitis B. METHODS: A total of 177 patients received IFN-alpha2a, 9 million units (MU)/m2 for 6 months. In group I (112 patients, 8.7 +/- 3.5 years), 3TC (4 mg/kg/day, max 100 mg) was started simultaneously with IFN-alpha2a, in group II (65 patients, 9.6 +/- 3.8 years) 3TC was started 2 months prior to IFN-alpha2a. 3TC was continued for 6 months after antiHBe seroconversion or stopped at 24 months in nonresponders. RESULTS: Baseline alanine aminotransferase (ALT) was 134.2 +/- 34.1 and 147.0 +/- 45.3; histological activity index (HAI) was 7.4 +/- 2.7 and 7.1 +/- 2.3; and HBV DNA levels were above 2,000 pg/ml in 76% and 66% of patients in groups I and II, respectively (P > 0.005). Complete response was 55.3% and 27.6% in groups I and II, respectively (P < 0.01). AntiHBe seroconversion was higher and earlier, and HBV DNA clearance was earlier in group I (P < 0.05). HBsAg clearance was 12.5% and 4.6% and antiHBs seroconversion was 9.8% and 6.2% in groups I and II, respectively (P > 0.05). Breakthrough occurred in 17.9% and 24.6%; breakthrough times were 15.9 +/- 4.6 and 14.1 +/- 5.1 months; and relapse rates were 6.8% and none in groups I and II, respectively (P > 0.05, P > 0.05, P > 0.05). Responders had higher HAI (HAI > 6) and higher pre-treatment ALT than non-responders. CONCLUSION: Simultaneous 3TC+IFN-alpha2a yields a higher response and earlier antiHBe seroconversion and viral clearance than consecutive combined therapy. Relapse rate is low. Predictors of response are high basal ALT and high HAI scores. 3TC can be administered for 24 months without any side effect and breakthrough rate is comparable with previous studies.


Asunto(s)
Antivirales/uso terapéutico , Hepatitis B Crónica/tratamiento farmacológico , Interferón-alfa/uso terapéutico , Lamivudine/uso terapéutico , Adolescente , Alanina Transaminasa/sangre , Niño , Preescolar , ADN Viral/sangre , Esquema de Medicación , Quimioterapia Combinada , Femenino , Antígenos e de la Hepatitis B/sangre , Humanos , Interferón alfa-2 , Masculino , Proteínas Recombinantes , Globulina de Unión a Hormona Sexual , Carga Viral
12.
Mikrobiyol Bul ; 40(1-2): 47-53, 2006.
Artículo en Turco | MEDLINE | ID: mdl-16775956

RESUMEN

The combination therapy regimen of interferon (IFN)-alpha and lamivudine (LAM), a nucleoside analogue, is lately in use in chronic hepatitis B (CHB) infections. The aim of this study was the evaluation of the efficacy of IFN-alpha 2a and LAM combination therapy in children with CHB infection. Twenty-seven cases (mean age 10.4 +/- 3.7 years, 20 males) who were followed up between 2002 and 2005 in Pediatric Gastroenterology Department, were included in the study. IFN-alpha 2a (5 MU/m2 SC, three times a week for 6 months) and LAM (4 mg/kg/d PO, maximum 100 mg/d for one year) were given simultaneously. LAM medication was extended to two years in non-responders. Alanine aminotransferase (ALT) levels, hepatitis markers and HBV-DNA were monitored once in three months. "Partial" response was defined as normal levels of ALT and negative HBV-DNA, and "complete" response was defined as seroconversion of HBeAg/anti-HBe. The cases whose HBV-DNA not getting negative and whose ALT levels did not decrease to the normal values were defined as "non-responders". In our study, one case (4.3%) was found non-respondant, "partial" response was seen in 13 (56.5%) cases, whereas "complete" response was seen in 9 cases (39.1%) out of 23 cases who have got the medications as long as a year. There was no significant difference between the response to the therapy regimen and the age, sex, ALT levels, hepatic activity indices (HAI) and HBV-DNA levels (p>0.05). As a result, IFN-alpha 2a and LAM combination therapy regimen is an effective alternative therapy in childhood, and the efficacy of the therapy was not influenced by age, sex, initial ALT levels, HBV-DNA and HAI in our study group.


Asunto(s)
Antivirales/uso terapéutico , Hepatitis B Crónica/tratamiento farmacológico , Interferón-alfa/uso terapéutico , Lamivudine/uso terapéutico , Adolescente , Alanina Transaminasa/sangre , Niño , Preescolar , ADN Viral/sangre , Quimioterapia Combinada , Femenino , Hepatitis B/genética , Hepatitis B/inmunología , Anticuerpos contra la Hepatitis B/sangre , Antígenos de Superficie de la Hepatitis B/sangre , Antígenos de Superficie de la Hepatitis B/inmunología , Antígenos e de la Hepatitis B/sangre , Antígenos e de la Hepatitis B/inmunología , Humanos , Interferón alfa-2 , Masculino , Estudios Prospectivos , Proteínas Recombinantes , Resultado del Tratamiento
13.
Turk J Gastroenterol ; 26(5): 397-403, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26215059

RESUMEN

BACKGROUND/AIMS: Wilson disease (WD, MIM# 277900) is an autosomal recessive disorder of copper transport resulting from the defective function of a copper transporting P-type ATPase. Detecting mutations and single nucleotide polymorphisms (SNPs) of the ATP7B gene in Turkish pediatric WD patients (n=32) and controls (n=52) is the aim of this research. MATERIALS AND METHODS: For screening mutations and SNPs of the ATP7B gene, sequencing was performed. RESULTS: Mutations were determined in the ATP7B gene in 23 out of the 32 pediatric patients. The mutation detection rate in the ATP7B gene of the pediatric Turkish WD patients was 71.875%. Fifteen different mutations were determined in the ATP7B gene. These mutations were distributed throughout the ATP7B gene and were as follows: 2 deletion, 1 insertion, 3 nonsense, and 9 missense mutations. Four of these, including c.3111delC (1 deletion) and c.2363C>T, c.3733C>A, and c.3451C>T (3 missense) mutations, were detected in the Turkish WD patients. Eleven polymorphisms were detected in both groups. Among these, c.3727G>A (SNP) was reported in the Wilson Disease Mutation Database by our group. Nine out of the thirty-two pediatric Turkish WD patients had no mutations in the ATP7B gene. CONCLUSION: To find the cause of WD in pediatric patients who have no mutation in ATP7B, additional research is necessary.


Asunto(s)
Adenosina Trifosfatasas/genética , Proteínas de Transporte de Catión/genética , ADN/genética , Degeneración Hepatolenticular/genética , Mutación , Adenosina Trifosfatasas/metabolismo , Proteínas de Transporte de Catión/metabolismo , Niño , Cobre , ATPasas Transportadoras de Cobre , Análisis Mutacional de ADN , Pruebas Genéticas , Genotipo , Degeneración Hepatolenticular/diagnóstico , Degeneración Hepatolenticular/metabolismo , Humanos , Reacción en Cadena de la Polimerasa , Polimorfismo de Nucleótido Simple
14.
Antivir Ther ; 9(1): 23-6, 2004 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-15040533

RESUMEN

AIM: To compare additive efficacy of combination therapy including interferon (IFN)-alpha2a+lamivudine (3TC) to IFN-alpha2b+3TC in children with chronic hepatitis B virus (HBV) infection. MATERIAL AND METHODS: Chronic hepatitis B infection was determined by presence of HBsAg, HBeAg and HBV DNA in serum screened at 3 months intervals for at least 1 year, serum alanine transaminase (ALT) levels more than 1.5-times the upper normal limit and chronic hepatitis with histological activity index (HAI) more than 6 by liver biopsy. Sixty-three children with chronic hepatitis B infection were treated randomly with thrice-weekly subcutaneous injections of 5 MU/m2 recombinant IFN-alpha2a (n=29) or recombinant IFN-alpha2b (n=34) with the same dose, intervals for 6 months. Patients also received 3TC (4 mg/kg/day, max 100 mg/day) orally daily combined with IFN and continued for 12 months. End of therapy response was defined as ALT normalization, HBV DNA clearance and HBe/anti-HBe seroconversion. Breakthrough infection was determined as re-emergence of HBV DNA in serum after its clearance. Response rate, incidence of side effects and breakthrough infection were compared between IFN-alpha2a+3TC- and IFN-alpha2b+3TC-treated patients. RESULTS: Response rate was 44.8% (n=13) with IFN-alpha2a+3TC and 47.1% (n=16) with IFN-alpha2b+3TC (P=1.0). No significant difference was found in respect to the DNA clearance (P=0.32), anti-HBe (P=1.0), anti-HBs (P=0.09) seroconversion and response rates (P=1.0) between the groups. Breakthrough infection was detected in 1 (3.4%) case on IFN-alpha2a and none of the cases on IFN-alpha2b (P=0.46). All of the patients experienced flu-like symptoms, malaise and fatigue; however, side effect interfering with therapy was not encountered. CONCLUSION: No significant difference was found in response rates achieved by combination therapies based on IFN-alpha2a and IFN-alpha2b. Clinical efficacy of 3TC and two different IFN subtypes was found similar.


Asunto(s)
Antivirales/uso terapéutico , Hepatitis B Crónica/tratamiento farmacológico , Interferón-alfa/uso terapéutico , Lamivudine/uso terapéutico , Administración Oral , Alanina Transaminasa/sangre , Quimioterapia Combinada , Femenino , Estudios de Seguimiento , Humanos , Inyecciones Subcutáneas , Interferón alfa-2 , Interferón-alfa/administración & dosificación , Interferón-alfa/efectos adversos , Lamivudine/administración & dosificación , Lamivudine/efectos adversos , Masculino , Proteínas Recombinantes , Factores de Tiempo , Resultado del Tratamiento
15.
Arch. argent. pediatr ; 116(5): 649-654, oct. 2018. ilus, tab
Artículo en Inglés, Español | LILACS, BINACIS | ID: biblio-973666

RESUMEN

El objetivo de este estudio fue evaluar a los pacientes con fiebre mediterránea familiar (familial Mediterranean fever, FMF) y dolor abdominal crónico resistentes al tratamiento con colchicina. Se incluyó a 48 pacientes diagnosticados en nuestro consultorio de reumatología pediátrica que tenían dolor abdominal a pesar del tratamiento con colchicina. A todos los pacientes se los derivó a un gastroenterólogo pediátrico. Se registraron las características del dolor, tales como aparición, duración y frecuencia; se planificó una endoscopía digestiva para obtener un diagnóstico diferencial. Se determinó la presencia de una mutación del gen MEFV en 46 pacientes. La mediana de la duración del tratamiento fue de 2,8 años. Aproximadamente el 60% de los pacientes tenían dolor abdominal todos los días o de dos a tres veces a la semana; en el 73% de los casos, duró menos de tres horas. A 41 pacientes se les realizó una endoscopía digestiva alta. La gastroduodenitis es un hallazgo frecuente en los pacientes con FMF y dolor abdominal persistente a pesar del tratamiento. Los pacientes con los puntajes más altos de severidad de la enfermedad tenían inflamación digestiva grave.


The aim of the study to evaluate familial mediterranean fever (FMF) patients with chronic abdominal pain unresponsive to colchicine treatment. Forty-eight patients who diagnosed in our Pediatric Rheumatology clinics and suffering from abdominal pain despite colchicine treatment were include. All patients were referred to a pediatric gastroenterologist. The pain characteristics such as onset, duration and frequency were recorded; gastrointestinal (GI) endoscopy was planned for differential diagnosis. MEFV mutation was determined in 46 patients. The median duration of treatment was 2.8 years. Approximately 60% of the patients suffered from abdominal pain every day or 2-3 times a week, in 73% of the cases it lasted less than three hours. Forty-one patients underwent upper GI endoscopy. Gastroduodenitis is a common finding in persisting abdominal pain despite therapy of FMF patients. The patients with the highest disease severity scores had severe inflammation within the entire GI system.


Asunto(s)
Humanos , Niño , Adolescente , Fiebre Mediterránea Familiar/complicaciones , Dolor Abdominal/epidemiología , Colchicina/administración & dosificación , Dolor Crónico/etiología , Fiebre Mediterránea Familiar/tratamiento farmacológico , Dolor Abdominal/etiología , Endoscopía Gastrointestinal/métodos , Duodenitis/diagnóstico , Duodenitis/etiología , Dolor Crónico/epidemiología , Gastritis/diagnóstico , Gastritis/etiología
16.
Eur J Med Genet ; 56(4): 175-9, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23333878

RESUMEN

Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene that encodes a P-type copper transporting ATPase. The aim of this study was to screen and detect mutations of the ATP7B gene in unrelated Turkish Wilson disease patients (n = 46) and control group (n = 52). Mutations were screened and detected by DNA sequencing. 30 out of 46 patients had mutations. 24 different Wilson disease related mutations were identified in those patients. The distribution of mutations in ATP7B gene was as follow: 17 missense, 3 nonsense, 1 silent, 3 frameshift (1 insertion, 2 deletion). None of them were not found in the control group. Five out of 24 mutations were found to be novel. Four of them were missense (c.2363C > T, c.3106G > A, c.3451C > T, c.3733C > A). The last one was deletion (c.3111delC). 10 single nucleotide polymorphisms (SNPs) given in the literature were found in both control and patients groups. Moreover one new polymorphism in exon 18 (c.3727G > A) not reported previously was discovered in both groups. It was striking that most of the mutations were found in exons 8, 12-14. This is the first study covering Turkish Wilson disease patients and control groups for mutation screening in all the coding regions of ATP7B gene by DNA sequencing method and adding five new mutations and one polymorphism into the HUGO Wilson disease mutation database.


Asunto(s)
Adenosina Trifosfatasas/genética , Proteínas de Transporte de Catión/genética , Degeneración Hepatolenticular/genética , Mutación , Adolescente , Adulto , Estudios de Casos y Controles , Niño , Preescolar , ATPasas Transportadoras de Cobre , Exones , Femenino , Pruebas Genéticas , Degeneración Hepatolenticular/diagnóstico , Humanos , Masculino , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN , Turquía/epidemiología
17.
Travel Med Infect Dis ; 10(1): 43-7, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22264583

RESUMEN

The age-specific prevalence of hepatitis A virus (HAV) infection and risk factors were evaluated in a low socioeconomic population in Izmir. Children and adolescents 1-18 years of age admitted to the outpatient clinics for follow-up visits, or healthy children between April-December 2009 were investigated for anti-HAV antibodies by a cross-sectional study. A questionnaire on sociodemographic and hygiene information was obtained from the parents. All unvaccinated children against HAV were grouped according to their age. Seven hundred and twenty-nine children were enrolled in the study. Total HAV IgG seropositivity was 29.5% while age related values were as follows: 1-2 years, 21.4%; 2.1-5 years, 15.1%; 5.1-8 years, 20.1%; 8.1-11 years, 32.6%; 11.1-14 years, 44.3% and 14.1-18 years, 52.4%. The presence of anti-HAV IgG was associated significantly with low family income and lack of education of parents and living in a crowded family. HAV infection was endemic in a population of children living in Izmir. Anti-HAV vaccination should be considered for preschool children because teenagers are at risk of infection in this region.


Asunto(s)
Anticuerpos de Hepatitis A/sangre , Virus de la Hepatitis A/inmunología , Hepatitis A/epidemiología , Adolescente , Distribución por Edad , Niño , Preescolar , Estudios Transversales , Femenino , Hepatitis A/sangre , Virus de la Hepatitis A/aislamiento & purificación , Humanos , Lactante , Pobreza , Factores de Riesgo , Estudios Seroepidemiológicos , Factores Socioeconómicos , Encuestas y Cuestionarios , Turquía/epidemiología
18.
J Matern Fetal Neonatal Med ; 25(8): 1387-9, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22082141

RESUMEN

OBJECTIVE: To evaluate the knowledge of mothers on neonatal jaundice. METHODS: This study was conducted on 161 mothers who had given birth to healthy newborns at Izmir Aegean Gynecology and Obstetrics Hospital between January 2010 and April 2010. A questionnaire was used to assess the mothers' knowledge on neonatal jaundice. Knowledge was evaluated as "sufficient" or "insufficient" based on responses. Sufficiently informed mothers were compared with insufficiently informed group for the knowledge level about neonatal jaundice. RESULTS: The rate of insufficiently informed mothers was 53.6%. Logistic regression analysis showed that education level and having a previous offspring with jaundice were independent variables affecting the mothers' knowledge level. Low education level was found to increase the probability of the mothers' knowledge level to be insufficient by 2.1 folds (OR 2.1, 95% CI 1.3-3.4; p = 0.003). Being informed beforehand by a previous offspring with jaundice increased the probability of the mothers' knowledge to be sufficient by twofolds (OR 2, 95% CI 1.1-3.7; p = 0.03). CONCLUSION: It is found that the mothers' knowledge about neonatal jaundice is insufficient. Maternal education level and having a previous offspring with jaundice are major factors affecting the knowledge of the mothers on hyperbilirubinemia.


Asunto(s)
Escolaridad , Ictericia Neonatal , Conocimiento , Madres , Adulto , Actitud Frente a la Salud , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , Recién Nacido , Ictericia Neonatal/diagnóstico , Ictericia Neonatal/terapia , Masculino , Madres/educación , Encuestas y Cuestionarios , Turquía , Adulto Joven
19.
Pediatrics ; 130(4): e921-7, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23008460

RESUMEN

OBJECTIVE: To examine the vitamin D status of 4-month-old exclusively breastfed infants supplemented with 400 IU daily of vitamin D and to determine whether there was any seasonal variation in serum 25-hydroxyvitamin D (25(OH)D) levels of infants. METHODS: In this cross-sectional study, serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone, and 25(OH)D levels of 143 exclusively breastfed 4-month-old infants supplemented daily with 400 IU of vitamin D were measured in a temperate latitude, Izmir, Turkey, between May 2008 and April 2009. A questionnaire on demographic characteristics of infants and mothers, vitamin D supplementation of infants after birth, mothers' multivitamin supplementation, dressing habits, and consumption of dairy products during pregnancy was used. RESULTS: Vitamin D deficiency (≤ 50 nmol/L) and insufficiency (51-74 nmol/L) were determined in 40 (28%) and 55 (38.5%) infants, respectively. During winter days, serum 25(OH)D levels were <20 ng/mL in 45.4% of infants and <10 ng/mL in 10.6% of infants. Season of blood sampling, compliance of vitamin D supplementation, maternal education level, and consumption of dairy products were highly predictive of serum 25(OH)D levels in multiple linear regression analysis (P < .05). The use of the Pearson correlation test found a statistically significant negative correlation between 25(OH)D and parathyroid hormone levels (r = -0.419, P < .001). CONCLUSIONS: Despite supplementation with 400 IU of vitamin D daily, the rate of vitamin D deficiency was worryingly high in 4-month-old exclusively breastfed infants living in Izmir, Turkey. So, additional studies are needed to clarify optimal amount of vitamin D supplementation to the infants, especially during winter days.


Asunto(s)
Lactancia Materna , Colecalciferol/uso terapéutico , Suplementos Dietéticos , Estaciones del Año , Deficiencia de Vitamina D/prevención & control , Vitamina D/análogos & derivados , Vitaminas/uso terapéutico , Biomarcadores/sangre , Estudios Transversales , Femenino , Humanos , Lactante , Modelos Lineales , Masculino , Factores de Riesgo , Encuestas y Cuestionarios , Resultado del Tratamiento , Turquía , Vitamina D/sangre , Deficiencia de Vitamina D/sangre , Deficiencia de Vitamina D/diagnóstico , Deficiencia de Vitamina D/etiología
20.
J Matern Fetal Neonatal Med ; 25(9): 1618-21, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22185230

RESUMEN

OBJECTIVE: To investigate the frequencies of vitamin B12 and folate deficiencies in pregnant women in low socioeconomic group, the relation between the animal-source foods consumption and maternal vitamin B12-folate statuses, and their impacts on anthropometric measurements of the infants. METHODS: A total of 208 pregnant women in the last trimester were included in the study. A questionnaire about socio-demographic status, consumption of meat, egg, milk-dairy products, multivitamin supplementation was used. Vitamin B(12) and folate concentrations were studied by chemiluminescence method. The babies of Vitamin B(12) deficient mothers were evaluated after birth. RESULTS: The rate of vitamin B(12) deficiency was 47.6% and folate deficiency was 17.3% of pregnant women. Animal food consumption was inadequate about half of pregnant women and vitamin B(12) levels in these women were significantly low. There were no statistically significant relationships between the birth weight, birth length and head circumference measurements, and maternal vitamin B(12) and folate concentrations. CONCLUSION: The rate of vitamin B12 deficiency in pregnant women in low socioeconomic population is high. Although there were no significant effects of the vitamin B12 and folate deficiencies on birth size, additional studies are required to elucidate the subsequent effects.


Asunto(s)
Peso al Nacer , Ácido Fólico/sangre , Fenómenos Fisiologicos Nutricionales Maternos , Estado Nutricional/fisiología , Nacimiento a Término , Vitamina B 12/sangre , Adulto , Antropometría , Peso al Nacer/fisiología , Pesos y Medidas Corporales , Estudios Transversales , Dieta/estadística & datos numéricos , Encuestas sobre Dietas , Femenino , Ácido Fólico/análisis , Deficiencia de Ácido Fólico/sangre , Deficiencia de Ácido Fólico/epidemiología , Humanos , Recién Nacido , Embarazo , Complicaciones del Embarazo/sangre , Complicaciones del Embarazo/epidemiología , Mujeres Embarazadas , Nacimiento a Término/fisiología , Vitamina B 12/análisis , Deficiencia de Vitamina B 12/sangre , Deficiencia de Vitamina B 12/epidemiología , Adulto Joven
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