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BACKGROUND The purpose of this study was to assess the values of the mean platelet volume (MPV) in children with attention deficit hyperactivity disorder (ADHD) and with autism spectrum disorders (ASDs) to determine the risk of cardiovascular disease in these 2 disorder groups. MATERIAL AND METHODS The study included a total of 79 patients with ADHD or ASDs and controls in the Van region of Turkey. The control group included subjects of matching age and sex with no ADHD, ASDs, or chronic disease and taking no vitamins. The hematological parameters of the patients, including MPV, vitamin B12, and vitamin D, were assessed. RESULTS The study included a total of 79 children and adolescents aged 2-18 years (32 females and 47 males). Of the patients, 36 were in the ADHD group, 18 in the ASDs group, and 25 in the control group. There was no statistically significant difference in hematological parameters between the groups, but there were significant differences in terms of vitamin D and vitamin B12. The patient groups showed lower levels of vitamin B12 and vitamin D. In the ADHD group, there was a negative correlation between both vitamins and MPV (p<0.05). Partial correlation analysis of the ADHD group showed that MPV in particular was negatively correlated to vitamin D, and not to vitamin B12 (p: 0.03). CONCLUSIONS Both ADHD and ASDs may accompany increased risk for cardiovascular disease due to the presence of vitamin B12 and D deficiency and their own characteristics. Therefore, these disorders should be closely followed up.
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Trastorno por Déficit de Atención con Hiperactividad/metabolismo , Trastorno del Espectro Autista/metabolismo , Enfermedades Cardiovasculares/etiología , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/sangre , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno del Espectro Autista/sangre , Trastorno del Espectro Autista/complicaciones , Avitaminosis/complicaciones , Biomarcadores/sangre , Niño , Femenino , Humanos , Masculino , Volúmen Plaquetario Medio , Factores de Riesgo , Vitamina B 12/análisis , Vitamina B 12/sangre , Vitamina D/análisis , Vitamina D/sangreRESUMEN
To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.
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Cariotipo Anormal , Antropometría , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Fenotipo , Adulto JovenRESUMEN
BACKGROUND Our study aimed to demonstrate the frequency of the syndrome of inappropriate ADH secretion (SIADH) and associated factors during the course of brucellosis in children and adolescents. MATERIAL AND METHODS The study included children and adolescents aged 0-18 years old diagnosed with brucellosis between 2012 and 2014. The data were collected from patient charts. The diagnosis of brucellosis was made based on titrations >1:160 in standard Wright tube agglutination tests and/or positive culture tests. SIADH diagnosis was made based on the following criteria: euvolemic hyponatremia, serum Na+ <135 mmol/L, presence of serum hypoosmolarity (serum osmolarity <275 mOsm/L), increased urinary sodium (>25 mmol/L with normal dietary salt intake), low uric acid (<2 mg/dL), absence of kidney, thyroid or adrenal disease, and any anti-diuretic use. RESULTS The study included 160 children and adolescents with mean age of 9.58±3.95 years (range: 2-18 years) including 70 girls (43.8%) and 90 boys (56.2%). When the patients were stratified based on SIADH, it was found that SIADH was present in 35 patients (21.9%). SIADH was associated with elevated glucose (p<0.001), ALT (p<0.05), AST (p<0.05), LDH (p<0.001), CRP (p<0.001), and MPV (p<0.001); and decreased potassium (p<0.05), chloride (p<0.001), albumin (p<0.001), total protein (p<0.05), and hemoglobin (p<0.05) levels. CONCLUSIONS Our study reports on the frequency, clinical characteristics, predisposing factors, and management of SIADH that can develop in children and adolescents diagnosed with brucellosis.
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Brucelosis/complicaciones , Síndrome de Secreción Inadecuada de ADH/complicaciones , Adolescente , Brucelosis/sangre , Brucelosis/epidemiología , Niño , Preescolar , Femenino , Hormonas/metabolismo , Humanos , Síndrome de Secreción Inadecuada de ADH/sangre , Síndrome de Secreción Inadecuada de ADH/epidemiología , Lactante , Masculino , Estaciones del AñoRESUMEN
Hearing loss can occur in newborns exposed to high-level noise; noise exposure can cause more physiological stress and can lead to DNA damage. This study was designed to determine DNA damage in newborn rats exposed to sound at different concentrations. For this purpose, 28 newborn (3-6 days old) rats were divided into four groups of 7 rats in each group (Control and Groups of 40 decibel (dB), 70 dB, and 110 dB]. In the experimental groups, 40 dB, 70 dB, and 110 dB (7.5-15 kHz) of sound was applied to the experimental groups for 30 min a day for 7 days. DNA damage levels in the serums obtained from this study were determined by the enzyme-linked immunosorbent assay (ELISA) method. According to this, it was determined that DNA damage in the group exposed to 110 dB showed a statistically significant increase (P < 0.05) compared to the compared to the control, 40 dB, and 70 dB groups. Related to the subject, it was concluded that DNA damage may occur in newborns exposed to 110 dB or higher sound in neonatal units, wards, and home environments with newborn babies. Mothers should be warned about this situation and noise should be kept under 110 dB volume in the environments with the newborns.
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Daño del ADN , Ruido/efectos adversos , 8-Hidroxi-2'-Desoxicoguanosina , Animales , Animales Recién Nacidos , Desoxiguanosina/análogos & derivados , Desoxiguanosina/sangre , Pérdida Auditiva Provocada por Ruido/etiología , Estrés Oxidativo , Ratas , Factores de TiempoRESUMEN
BACKGROUND: Hemodynamically significant patent ductus arteriosus (hsPDA) leads to injury in tissues/organs by reducing perfusion of organs and causing oxidative stress. The purpose of this study was to evaluate the oxidant/antioxidant status in preterm infants with hsPDA by measuring the total antioxidant capacity and total oxidant status and to assess neuronal damage due to oxidant stress related to hsPDA. MATERIAL AND METHODS: This prospective study included 37 low-birth-weight infants with echocardiographically diagnosed hsPDA treated with oral ibuprofen and a control group of 40 infants without PDA. Blood samples were taken from all infants, and than the total antioxidant capacity (TAC), total oxidant status (TOS), and S-100B protein levels were assessed and oxidative stress index was calculated before and after therapy. RESULTS: The mean pre-therapy TOS level and oxidative stress index (OSI) value of the patients with hsPDA were significantly higher, but TAC level was lower than in the control group. There were no statistically significant differences in the mean post-therapy values of TOS, TAC, OSI, and S-100B protein between the two groups. CONCLUSIONS: hsPDA may cause cellular injury by increasing oxidative stress and damaging tissue perfusion; however the brain can compensate for oxidative stress and impaired tissue perfusion through well-developed autoregulation systems to decrease tissue injury.
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Conducto Arterioso Permeable/tratamiento farmacológico , Ibuprofeno/uso terapéutico , Recien Nacido Prematuro/metabolismo , Estrés Oxidativo , Subunidad beta de la Proteína de Unión al Calcio S100/metabolismo , Antioxidantes , Estudios de Casos y Controles , Conducto Arterioso Permeable/metabolismo , Conducto Arterioso Permeable/patología , Femenino , Humanos , Ibuprofeno/farmacología , Recién Nacido , Masculino , Estrés Oxidativo/efectos de los fármacosRESUMEN
AIM: The mucocutaneous changes observed during vitamin B12 deficiency in children have been published only as case studies and small case series. In this study, we aimed to demonstrate the frequency of mucocutaneous changes (particularly hyperpigmentation) seen during vitamin B12 deficiency and resolving time of these symptoms with vitamin B12 treatment. MATERIAL AND METHODS: This prospective study was conducted at the pediatrics outpatient clinic of Harran and Yuzuncu Yil University Faculty of Medicine, among 57 patients, aged between 6 and 24 months, who were diagnosed with vitamin B12 deficiency following various examinations and tests. A detailed examination was performed in respect to skin and mucosal findings. Patients with vitamin B12 deficiency were administered intramuscular cyanocobalamin. Prospective examination was continued, and resolving time of symptoms after treatment was recorded. RESULTS: The mean age of the patients enrolled in the study was found to be 12.75 ± 4.75. Hyperpigmentation was reported in 49 (85.96%) patients enrolled in the study; atrophic glossitis in 40 (70.17%), brittle and matt hair in 13 (22.80%), skin lesions (particularly diaper dermatitis) in eight (15.78%) and cheilosis in four (7.01%) patients. Three months after the treatment initiation, hyperpigmentation improved in 87.75%, atrophic glossitis in 97.5% and brittle and matt hair in 92.3% of the patients. Five patients (8.77%) with continuing pigmentation by the end of sixth months were considered as nonresponsive to the treatment. CONCLUSION: Deficiency of vitamin B12 should be considered in the differential diagnosis of infants who present with skin and mucosal lesions.
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Queilitis/etiología , Glositis/etiología , Hiperpigmentación/etiología , Deficiencia de Vitamina B 12/complicaciones , Vitamina B 12/uso terapéutico , Queilitis/tratamiento farmacológico , Diagnóstico Diferencial , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Glositis/tratamiento farmacológico , Humanos , Hiperpigmentación/diagnóstico , Hiperpigmentación/tratamiento farmacológico , Lactante , Inyecciones Intramusculares , Estudios Prospectivos , Resultado del Tratamiento , Vitamina B 12/administración & dosificación , Vitamina B 12/sangre , Deficiencia de Vitamina B 12/diagnóstico , Deficiencia de Vitamina B 12/tratamiento farmacológicoRESUMEN
The complete role of factors contributing to the pathogenesis of childhood obesity remains to be fully elucidated. Limited research has addressed trace elements in the context of child obesity. Our objective was to assess trace element and lead (Pb), copper (Cu) (are toxic metal) levels in both healthy and obese children, and to investigate the potential correlations between these elements and obesity-related anthropometric measurements, lipid profiles, as well as insulin and glucose levels. Furnace atomic absorption spectrophotometry was employed to measure the concentrations of trace elements in the serum. Additionally, fasting glucose, insulin, and lipid levels were determined in obese children (body mass index ≥ 95th percentile for age and sex), along with 50 healthy children. Only the obesity group underwent an oral glucose tolerance test (OGTT). Significantly reduced levels of Fe, Mg, Zn, and Co were observed in obese children, whereas Cu, Pb, and Mn levels were elevated (P < .001, P <.001, P = .002, P = .008, P <.001, P = .001, P = .007, respectively). Significant positive correlations were found between the 2-hour glucose level in OGTT and Mn (P = .013), as well as between peak insulin and insulin levels at the 30th and 60th minutes, and Fe (P = .001, P = .025, P = .001). This study indicates that an imbalance in trace element levels and the accumulation of Pb may be associated with obesity, while levels of Mn and Fe may be linked to glucose intolerance.
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PURPOSE: Recent studies indicate that circulating micro RNAs (miRNAs) are novel class of non-invasive biomarkers with diagnostic and prognostic information. We evaluated the miRNA expressions in bladder cancer (BC) and their associations with disease diagnosis. METHODS: We profiled the expressions of 379 miRNAs in the plasma samples from patients with non-muscle invasive bladder cancer (NMIBC) (n = 34) and non-malignant urological diseases as a control group (n = 32). Patients were evaluated regarding with age, miRNA expressions, by using descriptive statistics. miRNA expression in extracted RNA was quantified using the NanoString nCounter Digital Analyzer. RESULTS: The analysis of plasma miRNA levels in the marker identification cohort indicated that plasma (miR-1260a, let-7a-3p miR-196b-5p, miR-196a-5p, miR-99a-5p, miR-615-5p, miR-4301, miR-28-3p, miR-4538, miR-1233-3p, miR-4732-5p, miR-1913, miR-1280) levels were increased in NMIBC patients compared to control subjects. There were no significant differences other parameters studied between groups. CONCLUSIONS: The analysis of serum plasma miRNA (miR-1260a, let-7a-3p miR-196b-5p, miR-196a-5p, miR-99a-5p, miR-615-5p, miR-4301, miR-28-3p, miR-4538, miR-1233-3p, miR-4732-5p, miR-1913, miR-1280) levels could be useful plasma biomarkers for BC.
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Ácidos Nucleicos Libres de Células , MicroARNs , Neoplasias de la Vejiga Urinaria , Humanos , Biomarcadores , Pronóstico , Neoplasias de la Vejiga Urinaria/diagnóstico , Neoplasias de la Vejiga Urinaria/genética , Neoplasias de la Vejiga Urinaria/patología , Biomarcadores de Tumor/genéticaRESUMEN
OBJECTIVE: To determine the oxidative stress and trace element levels in vivo in patients with nutritional rachitism associated with vitamin D deficiency. MATERIALS AND METHOD: A total of 30 patients, 18 males and 12 females, were included in the study. Age, sex, medical history, vital, and physical examination findings of each patient documented at presentation were recorded. Serum calcium, phosphorus, alkaline phosphatase, parathormone, and 25-OH vitamin D levels, as well as oxidant and antioxidant system parameters and trace element levels were studied. After being diagnosed with rachitism, the patients were administered a single dose of 300,000 IU vitamin D by intramuscular injection. The same analyses were repeated post-treatment. Thirty children with normal anthropometric measurements were included as the control group. The analyses described above were performed only once for the control group. RESULTS: Serum calcium, phosphorus, alkaline phosphatase, parathormone, and 25-OH vitamin D levels were different between the controls and children in the patient group (p<0.001). Analysis of trace element levels demonstrated markedly lower pretreatment zinc levels for the patient group compared to the controls, with a statistically significant difference (p=0.001). Comparison of pretreatment oxidant and antioxidant system markers between the patient and control groups demonstrated higher values for vitamin C, ß-carotene, reduced glutathione, and superoxide dismutase in the control group, whereas MDA was higher in the patient group. CONCLUSION: The present study demonstrated increased oxidative stress, reduced antioxidant defence system in patients with nutritional rachitism, with reduced oxidative stress and a pronounced improvement in the antioxidant system with vitamin D treatment.
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Estrés Oxidativo/fisiología , Raquitismo/metabolismo , Oligoelementos/sangre , Vitamina D/uso terapéutico , 25-Hidroxivitamina D 2/sangre , Biomarcadores/sangre , Compuestos de Calcio/sangre , Femenino , Glutatión/sangre , Humanos , Inyecciones Intramusculares , Masculino , Malondialdehído/sangre , Estrés Oxidativo/efectos de los fármacos , Hormona Paratiroidea/sangre , Raquitismo/diagnóstico , Raquitismo/dietoterapia , Resultado del Tratamiento , Vitamina A/sangre , Vitamina D/administración & dosificaciónAsunto(s)
Acidemia Propiónica/complicaciones , Púrpura Trombocitopénica Idiopática/etiología , Femenino , Humanos , Inmunoglobulinas Intravenosas/administración & dosificación , Lactante , Pronóstico , Púrpura Trombocitopénica Idiopática/diagnóstico , Púrpura Trombocitopénica Idiopática/tratamiento farmacológicoRESUMEN
Jarcho-Levin syndrome (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold-Chiari malformation, renal and urinary abnormalities, hydrocephalus, congenital cardiac abnormalities, and extremity malformations. The study included 12 cases at 37-42 weeks of gestation and diagnosed to have had Jarcho-Levin syndrome, Arnold-Chiari malformation, and meningmyelocele. All cases of Jarcho-Levin syndrome had Arnold-Chiari type 2 malformation; there was corpus callosum dysgenesis in 6, lumbosacral meningmyelocele in 6, lumbal meningmyelocele in 3, thoracal meningmyelocele in 3, and holoprosencephaly in 1 of the cases. With this article, the authors underline the neurologic abnormalities accompanying Jarcho-Levin syndrome and that each of these abnormalities is a component of Jarcho-Levin syndrome.
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Malformación de Arnold-Chiari/complicaciones , Hernia Diafragmática/complicaciones , Defectos del Tubo Neural/complicaciones , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/terapia , Malformación de Arnold-Chiari/diagnóstico por imagen , Malformación de Arnold-Chiari/cirugía , Femenino , Hernia Diafragmática/diagnóstico por imagen , Hernia Diafragmática/terapia , Humanos , Recién Nacido , Masculino , Defectos del Tubo Neural/diagnóstico por imagen , Defectos del Tubo Neural/cirugía , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in Turkey. METHODS: Patients' clinical and laboratory data were extracted from an electronic health registry. Molecular CTNS gene analysis was performed using either next-generation sequencing or Sanger sequencing. RESULTS: Eleven patients (age range: 1.5-12 years) from nine families were identified. The presenting complaint was growth retardation in seven patients; polydipsia and polyuria in three patients; and vomiting in two patients. At presentation, electrolyte loss was noted in all patients, of which eight patients presented with metabolic acidosis, and three patients presented with metabolic alkalosis. All patients also presented with proteinuria and glucosuria, and four patients developed varying degrees of renal insufficiency, for which peritoneal dialysis was initiated in one patient. Cystine crystals were detected via ocular examination in one patient at presentation. No cystine crystals were detected among patients who underwent bone marrow aspiration. In the CTNS gene, a p.T7FX7 (c.18-21del4bp) mutation was detected in three patients, whereas a p.E227E (c.681 G>A) (homozygous) mutation was detected in eight patients. CONCLUSIONS: We detected two distinct mutations, p.T7FX7 (c.18-21del4bp) and p.E227E (c.681 G>A) (homozygous), in the CTNS gene in 11 patients with cystinosis from the East Anatolian region of Turkey. Patients with a homozygous c.681 G>A (p.E227E) mutation are more likely to develop chronic renal failure and should be monitored closely, whereas patients with a p.T7FX7 (c.18-21del4bp) mutation have a milder phenotype. Additionally, metabolic alkalosis does not exclude cystinosis, although cystinosis is a cause of proximal renal tubular acidosis.
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Sistemas de Transporte de Aminoácidos Neutros/genética , Biomarcadores/metabolismo , Cistinosis/genética , Mutación/genética , Niño , Preescolar , Cistinosis/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Pronóstico , Turquía/epidemiologíaRESUMEN
The aim of the present study was to determine the serum levels of vitamin B12, folate, and homocysteine (Hcy) in mothers and their babies, and to assess the association between these levels and neural tube defect (NTD). The study group included 92 baby-mother pairs, where the babies had NTD, and the control group included 102 pairs, where the babies had no NTD, from May 2012 to May 2015. Plasma vitamin B12, folate, and Hcy levels of the babies and mothers were measured, and compared with each other. NTD was diagnosed in 2.6% of our babies. The vitamin B12 levels in the mothers and the babies in the study group were determined as 166.2 ± 63.7 pg/mL and 240.3 ± 120.3 pg/mL, and in the control group as 1 9 0 ± 80.2 pg/mL and 299.5 ± 151.4 pg/mL, respectively. There was a significant difference between the two groups in terms of both the mothers' and the babies' vitamin B12 levels (p = 0.024 and p = 0.003, respectively). The plasma folate levels of the mothers in the study group (5.2 ± 3 ng/mL) were significantly lower than control group (6.4 ± 4.3 ng/mL, p = 0.032).The plasma Hcy level of the mothers in the study group (9.3 ± 3.8 µmol/L) was significantly higher than the control group (7 ± 3.8 µmol/L, p < 0.001). High plasma Hcy levels and low plasma folate and vitamin B12 levels are risk factors for NTD. Our results show that the risk for NTD can be decreased by fortification of mothers-to-be, particularly in rural areas with folate and vitamin B12 deficiency, which would lower the plasma Hcy level.
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Ácido Fólico/sangre , Homocisteína/sangre , Defectos del Tubo Neural/sangre , Vitamina B 12/sangre , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Recién Nacido , Persona de Mediana Edad , Defectos del Tubo Neural/etiología , Defectos del Tubo Neural/prevención & control , Embarazo , Prevalencia , Factores de Riesgo , Turquía , Adulto JovenRESUMEN
This retrospective study included seven paediatric cases aged from 4 to 14 (10.2±3.4) years with pathologically proved haemophagocytic lymphohistiocytosis from a single institution during 2009 and 2013. Over this time period, 496 patients with brucellosis were diagnosed. None of the patients (3 boys and 4 girls) had a history of any haematologic disorder. All patients had an anamnesis for recently consumed unpasteurised homemade dairy products or had a contact history with sheep and/or cows. The diagnosis of brucellosis was confirmed by standard tube agglutination test in all patients; titres were 1: 1280 in seven patients. Blood culture was positive for Brucella melitensis in three patients (42%). Bone marrow cultures were positive for B. melitensis in four patients (57%). Fever was present in all patients (100%) with haemophagocytic lymphohistiocytosis. The other most common symptoms were malaise, myalgia, anorexia, sweating and weight loss. In addition, sweating was observed in five patients, and lymphadenopathy, petechiae, and weight loss were observed in one patient. Hepatomegaly, splenomegaly, and hepatosplenomegaly were found in four (57%), six (85%) and four (57%), patients, respectively. Haemophagocytosis was documented in bone marrow examinations of all children except in two cases. All patients recovered completely, and their peripheral blood counts returned to normal by 2 to 4 weeks after antibiotic treatment of brucellosis.
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Brucella melitensis/aislamiento & purificación , Brucelosis/complicaciones , Linfohistiocitosis Hemofagocítica/etiología , Adolescente , Pruebas de Aglutinación , Animales , Médula Ósea/microbiología , Médula Ósea/patología , Brucelosis/diagnóstico , Brucelosis/epidemiología , Brucelosis/etiología , Bovinos/microbiología , Niño , Preescolar , Productos Lácteos/microbiología , Exposición a Riesgos Ambientales , Femenino , Microbiología de Alimentos , Humanos , Linfohistiocitosis Hemofagocítica/diagnóstico , Linfohistiocitosis Hemofagocítica/epidemiología , Masculino , Estudios Retrospectivos , Ovinos/microbiología , Evaluación de Síntomas , Turquía/epidemiologíaRESUMEN
BACKGROUND: The aim of this study was to analyze thyroid hormones and antibodies, ferritin, vitamins B12 and D, adrenal and gonadal steroid levels, and celiac antibodies in children diagnosed with attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). METHODS: Between February 2014 and July 2014, a total of 77 children and adolescents (31 girls, 46 boys) who were admitted to the Van Training and Research Hospital were included in the study. The study population was divided into three groups including ADHD (n=34), ASD (n=16), and age- and sex-matched healthy controls (n=27). The diagnosis of ADHD was made on the basis of Diagnostic and Statistical Manual of Mental Disorders - Fifth Edition (DSM-5) and DSM-4 Turkish version with the diagnostic interview and Disruptive Behavior Disorder Rating Scale (DBDRS). The diagnosis of ASD was based on the DSM-4 and DSM-5 Turkish version with the diagnostic interview and the Childhood Autism Rating Scale (CARS). The blood samples were obtained between 8:00 and 9:00 A.M. RESULTS: There was a statistically significant difference in vitamin B12 and D levels and ferritin values among the three groups. The ASD group had the highest ferritin and the lowest vitamins B12 and D levels. Vitamin D levels of the ADHD group were significantly lower compared to the healthy controls. CONCLUSIONS: Our study results highlight the importance of supplementation of vitamins B12 and D in the ASD and ADHD patients.
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Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno del Espectro Autista/complicaciones , Avitaminosis/etiología , Hormonas/deficiencia , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Masculino , PronósticoRESUMEN
Bleeding disorders are a common cause of menorrhagia in the adolescent age group. We aimed to evaluate the incidence of hemostatic disorders, using clinical and laboratory findings of bleeding disorders in adolescent girls with menorrhagia. A retrospective chart review used to evaluate adolescent girls with menorrhagia who were referred to Yuzuncu Yil University Pediatric Hematology clinic between January 2010 and December 2014. Out of 52 patients referred for investigation, 50 patients were included in the study. The mean age and mean menarche age were 14.8 ± 1.42 (range: 12-17) and 12.47 ± 0.55, respectively. In 42 % (n = 21) of patients, anemia was detected. In 22 % (n = 11) of patients, a bleeding disorder was detected: five cases with von Willebrand disease, two cases with acute immune thrombocytopenic purpura, one case with Bernard-Soulier syndrome, one case with Glanzmann thrombasthenia, one case with aplastic anemia and one case with factor X deficiency. The remaining 39 out of the 50 patients were finally diagnosed with dysfunctional uterine bleeding. When compared the patients with bleeding disorders and without bleeding disorders, bleeding from other sites, including gingival bleeding or epistaxis, low platelet counts and prolonged activated partial thromboplastin time were found statistically more frequent in patients with bleeding disorders (p < 0.05). Menorrhagia in adolescents is frequently associated with underlying bleeding disorders. Adolescents with heavy menstrual bleeding and a history of nose or gingival bleeding should be evaluated for congenital bleeding disorders.
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Percutaneous nephrolithotomy (PNL) is the first-line treatment in large, multiple stones and lower calyceal stones. Majority of complications associated with PNL are minor and clinically insignificant. It was seen that distal piece (2 cm in size) of ureter catheter observed at pelvis was found at the parenchyma of left lung on the perioperative fluoroscopy in the patient undergoing PNL for right kidney stone. We presented this complication to stress that a foreign body can pass into circulation presumably through venous injury and can migrate to the lung.
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Short-rib polydactyly syndrome is an autosomal recessively inherited lethal skeletal dysplasia. The syndrome is characterized by marked narrow fetal thorax, short extremities, micromelia, cleft palate/lip, polydactyly, cardiac and renal abnormalities, and genital malformations. In cases with pulmonary hypoplasia, persistent pulmonary hypertension of the newborn can develop. In this paper, we present a term newborn with persistent pulmonary hypertension of the newborn, which has developed secondary to short-rib polydactyly syndrome and was resistant to therapy with inhaled nitric oxide and oral sildenafil.
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BACKGROUND: Hepatitis A is a common infectious disease during childhood worldwide. Recently, great deal of changes in the epidemiology has been reported. The seroepidemiologic studies of this infection are not sufficient in Eastern region of Turkey. OBJECTIVE: To investigate the seroprevalence and association with socio-demographic variables of hepatitis A in 1-15 year old children in Van. PATIENTS AND METHODS: This study was performed on 510 one to fifteen year old children from outpatient pediatric clinics in Yüzüncü Yil University, Faculty of Medicine during last three months of 2009. Anti-HAV IgG was measured in sera by enzyme-linked immunosorbent assay. The information about subjects was recorded on standardized forms and a chart review survey was performed. RESULTS: The overall ratio for seropositivity was 54.9%. Statistical significance was found between hepatitis A seroprevalence and age, collective use of domestic items, fresh water resources, localization and type of toilet and the number of households. CONCLUSION: This study provided the most recent data of seropositivity and revealed the preliminary indication of epidemiological shift in seroprevalence of Hepatitis A virus in a region with high endemicity.
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OBJECTIVE: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. METHODS: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. RESULTS: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. CONCLUSION: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.