Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome.

Introduction: Nongoitrous congenital hypothyroidism-6 (CHNG6) is a thyroid hormone resistance syndrome caused by a thyroid hormone receptor alpha (THRA) gene mutation, characterized by tissue-specific hypothyroidism and near-normal thyroid function tests. Snijders Blok-Campeau syndrome (SNIBCPS) is a rare autosomal dominant neurodevelopmental disorder caused by mutations in CHD3 genes, characterized by intellectual retardation, hypotonia, speech problems, and distinctive facial findings. Case Presentation: We report a 3-year-old dual phenotype Turkish girl with novel variants both in the THRA and CHD3 genes, presenting with developmental delay, hypotonia, and congenital hypothyroidism. Thyroid function values were consistent with the laboratory findings of CHNG6 disease: high free tri-iodothyronine (fT3) level, normal free thyroxine (fT4) value, and suppressed thyroid-stimulating hormone (TSH) values (under treatment). Molecular studies revealed a novel heterozygous missense c.802 G>A (p.Asp268Asn) variant in THRA that was inherited from her mother and a novel de novo heterozygous frameshift c.4364-4367 del (p.Tyr1455CysfsTer28) variant in CHD3. Discussion/Conclusion: In the literature, there is no case of CHNG6 and SNIBCPS co-existence. Although these are distinct diagnosis, we present this case due to the concomitance of these diseases.

Evaluation of Growth Hormone Results in Different Diagnosis and Trend Over 10 Year of Follow-up: A Single Center Experience

Objective: The aim was to evaluate the results of diagnosis, follow-up and treatment of the patients who recieved growth hormone (GH) treatment for the last 10 years and to determine the differences in the process and results over the years. Methods: Anthropometric, clinical, laboratory data, treatment adherence and side effects were evaluated retrospectively in 767 patients who recieved GH treatment between 2009-2018. Patients were grouped as isolated GH deficiency (IGHD), multiple pituitary hormone deficiency (MPHD), small for gestational age (SGA), and Turner syndrome (TS) depending on diagnosis. Results: GH treatment was started in 689 cases (89.8%) with IGHD, 24 (3.1%) with MPHD, 26 (3.4%) with SGA and 28 (3.7%) with TS. Median age of GH treatment onset was the earliest in SGA (8.4 years) and the latest in the IGHD group (12.0 years). At the time of treatment cessation, height standard deviation score (SDS) in IGHD and MPHD was significantly higher than treatment initiation time, whereas there was no significant difference in TS and SGA. One hundred eighty-nine cases reached the final height. Final heights for girls/boys were: IGHD 154/164.9 cm; MPHD 156.2/163.5 cm; TS 146.7 cm; and SGA 145.7/-cm, respectively. Target height SDS-final height SDS median values were IGHD: 0.1, MPHD: 0.6, SGA: 0.5, TS: 2.4 respectively. The patients' treatment compliance was high (92%) and the incidence of side effects was low (2.7%). Conclusion: In our cohort, GH treatment start age was late and no difference in this was observed in the last 10 years. The improvement in the height SDS was most marked in the IGHD and MPHD groups, the least in the TS and SGA groups.

Cardiovascular evaluation and serum paraoxonase-1 levels in adolescents with polycystic ovary syndrome.

The aim of our study was to evaluate whether cardiovascular disease risks seen in adults with polycystic ovary syndrome (PCOS) develop in adolescents with PCOS using conventional Doppler echocardiography (CDE) and tissue Doppler echocardiography (TDE) or not. The other aim was to investigate the association of paraoxonase-1 (PON-1) level with cardiovascular parameters. 30 PCOS patients and 30 control patients were included in the study. All patients were evaluated with TDE and CDE. Paraoxonase-1 levels of both groups were studied. In CDE study, myocardial performance index (MPI) was higher in the PCOS group than in the control group (0.54 ± 0.11, 0.50 ± 0.12, p = .049, respectively). In the TDE study, early diastolic myocardial velocity (E)'/late diastolic myocardial velocity (A') was lower in PCOS group than in the control group (2.07 ± 0.08, 2.44 ± 0.10, p = .008, respectively). PON-1 was higher in PCOS group than in the control group (26.81 ± 3.05, 18.68 ± 1.18, p = .011, respectively). Cardiovascular disease risks, which are among the long-term complications of PCOS, seem to begin from the early stage of PCOS. The high PON-1 level was thought to increase in response to increased oxidative stress in PCOS.Impact statementWhat is already known on this subject? Polycystic ovary syndrome (PCOS) is one of the most commonly seen endocrinopathy in the adolescent age group. PCOS has detrimental effects on the cardiovascular system in the adult population which is reported in many studies.What the results of this study add? The result of this study showed that cardiovascular effects, which are among the long-term complications of PCOS, seem to begin from the early stage of PCOS. And also, serum paraoxonase-1 level increases in response to the oxidative stress in the adolescent with PCOS.What are the implications of these findings for clinical practice and/or further research? The cardiovascular system evaluation should be started in early phases of PCOS development in the adolescent age group. The potential role of oxidative effect of Paraoxonase-1 on the PCOS needs to be elucidated in further studies.

Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey

Objective: We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases of pediatric hyperprolactinemia in a large multicenter study. Methods: We reviewed the records of 233 hyperprolactinemic patients, under 18 years of age, who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia and idiopathic hyperprolactinemia. Complaints of the patients, their mode of treatment (medication and/or surgery) and outcomes were evaluated in detail. Results: The mean age of the patients with hyperprolactinemia was 14.5 years, and 88.4% were females. In terms of etiology, microadenomas were observed in 32.6%, macroadenomas in 27%, idiopathic hyperprolactinemia in 22.7% and drug-induced hyperprolactinemia in 6.4%. Other causes of hyperprolactinemia were defined in 11.3%. Common complaints in females (n=206) were sorted into menstrual irregularities, headaches, galactorrhea, primary or secondary amenorrhea and weight gain, whereas headache, gynecomastia, short stature and blurred vision were common in males (n=27). Median prolactin levels were 93.15 ng/mL, 241.8 ng/mL, 74.5 ng/mL, 93.2 ng/mL, and 69 ng/mL for microadenomas, macroadenomas, idiopathic hyperprolactinemia, drug-induced hyperprolactinemia, and other causes of hyperprolactinemia, respectively. Of 172 patients with hyperprolactinemia, 77.3% were treated with cabergoline and 13.4% with bromocriptine. 20.1% of the patients with pituitary adenomas underwent pituitary surgery. Conclusion: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised.

Respiratuvar depression after accidental nasal ingestion of brimonidine eye drops in infant.

OBJECTIVES: Brimonidine tartrate is an alpha-2 agonist used for glaucoma treatment. It can lead to serious poisoning symptoms when misused by children. CASE REPORT: In this case report, 3 months-old male patient with severe central nervous system depression and respiratory arrest as a result of accidentally nasal instillation of 1 cc brimonidine tartrate that benefited from mechanic ventilation and naloxone treatment was presented. CONCLUSION: This case report suggested, that misuse of nasal brimonidine eye drop could result in serious respiratory distress and central nervous system depression. Mechanical ventilation and naloxone administration can be useful for these patients.

Correlation of mean platelet volume, neutrophil-to-lymphocyte ratio, and disease activity in children with juvenile idiopathic arthritis.

Juvenile idiopathic arthritis (JIA) is a chronic inflammatory arthritis characterized by periods of remission and relapse. Mean platelet volume (MPV) is an indicator of systemic inflammation. In the present study, we aimed to determine the association between mean platelet volume (MPV), neutrophil/lymphocyte ratio (NLR), platelet distribution width (PDW) and clinical measures of diseases activity in children with JIA. The study included 115 patients with JIA (64 with active disease and 51 with inactive disease) and 64 age-gender matched healthy control subjects. Routine laboratory methods were used to measure white blood cell count (WBC), platelet count (PLT), neutrophil count, lymphocyte count, hemoglobin (Hb), MPV, PDW, NLR, C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR) in all subjects of both the patient and control groups. Active disease was associated with significantly increased MPV (8.23 ± 1.16 fl) compared with inactive disease (7.00 ± 1. 08 fl) and control subjects (6.77 ± 1.08 fl) P<0.001, P<0.001, P=NS, respectively). NLR was significantly higher in patients with active (2.11 ± 1.19) and inactive (2.03 ± 1.51) disease relative to the control subjects (1.33 ± 0.66) (P<0.001, P=0.017, respectively). Mean PDW was significantly higher in patients with active disease (17.84 ± 1.06) compared with the control group (17.19 ± 0.93) (P=0.01). Our results suggest that MPV may be a useful marker of disease activity in patients with JIA. Regular treatment may decrease platelet activation in JIA patients. However, NLR was not a predictive marker of disease activity in patients with JIA.

Management of intestinal bleeding with single-dose cyclophosphamide in Henoch-Schönlein purpura.

In these case series, we report on six children (3 girls, 3 boys) aged 5-13 years with Henoch-Schönlein purpura (HSP) who developed severe gastrointestinal (GI) bleeding resistant to both 2 mg/kg or pulse (10-30 mg/kg) i.v. methylprednisolone. All patients responded to single-dose (500 mg/m(2) ) i.v. cyclophosphamide (CPA) and none of them developed new GI bleeding after CPA treatment. No patients required surgical intervention. Single high-dose CPA may be beneficial in HSP with severe GI involvement, in which bleeding is non-responsive to high-dose steroids.

Alta frecuencia de variación de la secuencia de la mutación E148Q en niños con fiebre mediterránea familiar en el sureste de Turquía / High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey

Objetivo: El objetivo de este estudio fue investigar el espectro de las mutaciones genéticas localizadas en el gen de la fiebre mediterránea (MEFV) y la correlación entre el genotipo y el fenotipo en niños con fiebre mediterránea familiar (FMF) en el sureste de Turquía. Métodos: En el estudio se incluyeron 507 niños (274 eran de sexo femenino) con FMF y mutaciones genéticas localizadas en el gen MEFV. Se realizó una evaluación retrospectiva de 15 años; y se analizaron los siguientes parámetros: edad, sexo, edad al inicio de los síntomas, edad al diagnóstico de la FMF, demora entre el inicio de los síntomas y el diagnóstico, síntomas de ataque de la FMF y respuesta a la colchicina. Se calcularon los índices de severidad de la enfermedad y se realizó el análisis de la mutación del genMEFV mediante PCR en tiempo real para las seis mutaciones más frecuentes. Con el fin de aportar homogeneidad, se excluyeron los niños con comorbilidades o con un resultado negativo en las pruebas de mutaciones del gen MEFV. Resultados: Se encontró que el 60,2% (n= 305) de los pacientes tenían antecedentes familiares. Los síntomas más frecuentes que manifestaron durante los ataques de FMF fueron dolor abdominal (98,0%), fiebre (93,9%) y artralgia (47,3%); el 75,0% de los pacientes (n= 380) eran heterocigotos; el 14,2% homocigotos (n= 72) y el 10,8% heterocigotos compuestos (n= 55). Se identificaron las siguientes mutaciones en los alelos del gen MEFV: E148Q (40,1%), M694V (25,9%), V726A (15,8%), R761H (7,4%), M680I (6,8%), y P369S (4,1%). En el subgrupo M694V se observó una edad media más joven de inicio de la enfermedad y un puntaje medio más alto de gravedad de la enfermedad, mientras que el grupo E148Q tuvo un inicio medio de enfermedad más tardío y un puntaje medio más bajo de severidad de la enfermedad (p <0,05). Conclusión: La frecuencia más alta de la mutación E148Q y la enfermedad más leve en la evolución de la FMF en la población de nuestro estudio quizás se deba a las diferencias étnicas del sureste de Turquía.

Objective: The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotype-phenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey. Methods: A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, sex, age at symptoms onset, age at FMF diagnosis, delay between symptoms onset and diagnosis, FMF attack symptoms, and response to colchicine. Disease severity scores were calculated and MEFV mutation analysis was performed via real-time PCR for the 6 most frequent mutations. Children with comorbid diseases or tested negative for MEFV gene mutations were excluded to provide homogeneity. Results: A family history of FMF was found in 60.2% (n= 305) of patients. The most common symptoms reported for FMF attacks were abdominal pain (98.0%), fever (93.9%) and arthralgia (47.3%); 75.0% of patients (n= 380) were heterozygous, 14.2% were homozygous (n= 72) and 10.8% were compound heterozygous (n= 55).The following MEFV gene mutation alleles were identified: E148Q (40.1%), M694V (25.9%), V726A (15.8%), R761H (7.4%), M680I (6.8%), and P369S (4.1%). The M694V subgroup had the lowest mean age of disease onset and the highest mean disease severity score, whereas the E148Q group had later mean disease onset and the lowest mean disease severity score (p<0.05). Conclusion: The highest E148Q mutation frequency and milder disease in the course of FMF in our study population may be due to geographic and ethnic background dissimilarities of southeast Turkey.

Alta frecuencia de variación de la secuencia de la mutación E148Q en niños con fiebre mediterránea familiar en el sureste de Turquía / High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey

Objetivo: El objetivo de este estudio fue investigar el espectro de las mutaciones genéticas localizadas en el gen de la fiebre mediterránea (MEFV) y la correlación entre el genotipo y el fenotipo en niños con fiebre mediterránea familiar (FMF) en el sureste de Turquía. Métodos: En el estudio se incluyeron 507 niños (274 eran de sexo femenino) con FMF y mutaciones genéticas localizadas en el gen MEFV. Se realizó una evaluación retrospectiva de 15 años; y se analizaron los siguientes parámetros: edad, sexo, edad al inicio de los síntomas, edad al diagnóstico de la FMF, demora entre el inicio de los síntomas y el diagnóstico, síntomas de ataque de la FMF y respuesta a la colchicina. Se calcularon los índices de severidad de la enfermedad y se realizó el análisis de la mutación del genMEFV mediante PCR en tiempo real para las seis mutaciones más frecuentes. Con el fin de aportar homogeneidad, se excluyeron los niños con comorbilidades o con un resultado negativo en las pruebas de mutaciones del gen MEFV. Resultados: Se encontró que el 60,2% (n= 305) de los pacientes tenían antecedentes familiares. Los síntomas más frecuentes que manifestaron durante los ataques de FMF fueron dolor abdominal (98,0%), fiebre (93,9%) y artralgia (47,3%); el 75,0% de los pacientes (n= 380) eran heterocigotos; el 14,2% homocigotos (n= 72) y el 10,8% heterocigotos compuestos (n= 55). Se identificaron las siguientes mutaciones en los alelos del gen MEFV: E148Q (40,1%), M694V (25,9%), V726A (15,8%), R761H (7,4%), M680I (6,8%), y P369S (4,1%). En el subgrupo M694V se observó una edad media más joven de inicio de la enfermedad y un puntaje medio más alto de gravedad de la enfermedad, mientras que el grupo E148Q tuvo un inicio medio de enfermedad más tardío y un puntaje medio más bajo de severidad de la enfermedad (p <0,05). Conclusión: La frecuencia más alta de la mutación E148Q y la enfermedad más leve en la evolución de la FMF en la población de nuestro estudio quizás se deba a las diferencias étnicas del sureste de Turquía.(AU)

Objective: The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotype-phenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey. Methods: A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, sex, age at symptoms onset, age at FMF diagnosis, delay between symptoms onset and diagnosis, FMF attack symptoms, and response to colchicine. Disease severity scores were calculated and MEFV mutation analysis was performed via real-time PCR for the 6 most frequent mutations. Children with comorbid diseases or tested negative for MEFV gene mutations were excluded to provide homogeneity. Results: A family history of FMF was found in 60.2% (n= 305) of patients. The most common symptoms reported for FMF attacks were abdominal pain (98.0%), fever (93.9%) and arthralgia (47.3%); 75.0% of patients (n= 380) were heterozygous, 14.2% were homozygous (n= 72) and 10.8% were compound heterozygous (n= 55).The following MEFV gene mutation alleles were identified: E148Q (40.1%), M694V (25.9%), V726A (15.8%), R761H (7.4%), M680I (6.8%), and P369S (4.1%). The M694V subgroup had the lowest mean age of disease onset and the highest mean disease severity score, whereas the E148Q group had later mean disease onset and the lowest mean disease severity score (p<0.05). Conclusion: The highest E148Q mutation frequency and milder disease in the course of FMF in our study population may be due to geographic and ethnic background dissimilarities of southeast Turkey.(AU)

High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey.

OBJECTIVE: The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotype-phenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey. METHODS: A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, sex, age at symptoms onset, age at FMF diagnosis, delay between symptoms onset and diagnosis, FMF attack symptoms, and response to colchicine. Disease severity scores were calculated and MEFV mutation analysis was performed via real-time PCR for the 6 most frequent mutations. Children with comorbid diseases or tested negative for MEFV gene mutations were excluded to provide homogeneity. RESULTS: A family history of FMF was found in 60.2% (n=305) of patients. The most common symptoms reported for FMF attacks were abdominal pain (98.0%), fever (93.9%) and arthralgia (47.3%); 75.0% of patients (n=380) were heterozygous, 14.2% were homozygous (n=72) and 10.8% were compound heterozygous (n=55).The following MEFV gene mutation alleles were identified: E148Q (40.1%), M694V (25.9%), V726A (15.8%), R761H (7.4%), M680I (6.8%), and P369S (4.1%). The M694V subgroup had the lowest mean age of disease onset and the highest mean disease severity score, whereas the E148Q group had later mean disease onset and the lowest mean disease severity score (p<0.05). CONCLUSION: The highest E148Q mutation frequency and milder disease in the course of FMF in our study population may be due to geographic and ethnic background dissimilarities of southeast Turkey.

Urinary early kidney injury molecules in children with beta-thalassemia major.

BACKGROUND: The aim of this study was to investigate novel urinary biomarkers including N-acetyl-ß-D-glucosaminidase (NAG), neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), and liver-type fatty acid binding protein (L-FABP) in children with ß-thalassemia major (ß-TM). MATERIALS AND METHODS: Totally, 52 patients (29 boys, 23 girls) with ß-TM and 29 healthy controls (3-17 years) were included. Various demographic characteristics and blood transfusions/year, disease duration, and chelation therapy were recorded. Serum urea, creatinine, electrolytes, and ferritin and urinary creatinine, protein, calcium, phosphorus, sodium, potassium, and uric acid in first morning urine samples were measured and estimated glomerular filtration rate (eGFR) was calculated. Routine serum and urinary biochemical variables, urinary NAG to Creatinine (U(NAG/Cr)), U(NGAL/Cr), U(KIM-1/Cr), and U(L-FABP/Cr) ratios were determined. RESULTS: Patients had similar mean serum urea, creatinine and eGFR levels compared with controls (p > 0.05 for all). The mean urinary protein to creatinine (U(Protein/Cr)) ratio was significantly higher in patients compared to the healthy subjects (0.13 ± 0.09 mg/mg and 0.07 ± 0.04 mg/mg, respectively; p < 0.001). Significantly increased U(NAG/Cr) (0.48 ± 0.58 vs. 0.23 ± 0.16, p = 0.026) and U(NGAL/Cr) (22.1 ± 18.5 vs. 11.5 ± 6.17, p = 0.01) ratios were found in ß-TM patients compared with healthy controls. However, no differences were found in serum and urinary electrolytes or U(KIM-1/Cr) and U(L-FABP/Cr) ratios between patients and controls (p > 0.05). Significant correlations were found between urinary biomarkers and urinary electrolytes (p < 0.05). CONCLUSIONS: Our results suggest that urinary NAG and NGAL may be considered to be reliable markers to monitor renal injury in ß-TM patients.

Usefulness of mean platelet volume and neutrophil-to-lymphocyte ratio for evaluation of children with Familial Mediterranean fever.

BACKGROUND: Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of serositis, fever, and rash. Clinical and subclinical inflammatory processes may contribute to atherosclerosis in FMF patients, with mean platelet volume (MPV) as a potential indicator for atherosclerosis risk and neutrophil-to-lymphocyte ratio (NLR) as a marker for subclinical inflammation in these patients. In this study, we investigated whether MPV can be used as an indicator for atherosclerosis risk and if NLR is a marker for subclinical inflammation in FMF patients. MATERIAL AND METHODS: The study consisted of 75 FMF patients in attack, 157 attack-free patients, and 77 healthy controls. White blood cell count neutrophil-to-lymphocyte ratio, platelet count, MPV, PDW C-reactive protein levels, and erythrocyte sedimentation rate were recorded. RESULTS: There were no significant differences between attack, attack-free, and control groups in terms of mean MPV and PDW value. NLR value was higher in the attack group. NLR value was similar in attack-free and control groups. CONCLUSIONS: We found that MPV and PDW values are similar in FMF patients and healthy controls. NLR was higher in FMF patients in the attack period. Therefore, our results suggest that MPV and PDW values do not predict atherosclerosis risk in pediatric FMF patients, and NLR may be an indicator for attack period but not attack-free period.

The effects of pomegranate and carvacrol on methotrexate-induced bone marrow toxicity in rats.

PURPOSE: The aim of this study was to evaluate the effects of pomegranate (PMG) extract and carvacrol (CARV) on methotrexate (MTX)-induced oxidative stress and bone marrow toxicity. METHODS: Wistar albino rats (32 rats) were divided into four groups (n=8): Group 1 was control; Group 2 was given a single intraperitoneal injection of methotrexate (20 mg/kg); Group 3 was treated with carvacrol (73 mg/kg i.p.) one day before MTX (20 mg/kg i.p.) injection; and, Group 4 received a single dose of MTX (20 mg/kg i.p) while PMG was administered orally for seven days at 225 mg/kg. After animals were euthanized, blood samples were taken to evaluate hematological parameters and oxidative stress. In addition, the femur was cropped and bone marrow was extracted for examination. RESULTS: White blood cell count, hemoglobin, hematocrit and platelet count were found to be decreased in the MTX group, but these changes were prevented in the groups that received CARV and PMG. Furthermore, decreased bone marrow cellularity was found in the groups treated with MTX, whereas the PMG and CARV groups had cellularity similar to controls. Strikingly, oxidative stress increased in the MTX group, but was ultimately decreased in the rats that received the antioxidants PMG and CARV. CONCLUSION: Carvacrol and PMG were found to be protective against methotrexate-induced oxidative bone marrow damage. Use of these antioxidants, in combination with chemotherapeutics, may help to reduce some adverse effects of methotrexate.

The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey.

The aim of this study was to determine the Mediterranean fever (MEFV) gene mutations and their clinical correlations in children with familial Mediterranean fever (FMF) in southeast Turkey. Clinical and laboratory characteristics of 147 (65 males, 82 females) consecutive children with FMF having a positive MEFV gene mutation were prospectively investigated. Patients with negative MEFV gene mutations or atypical FMF presentations and those from other regions of the country were excluded. Clinical manifestations and disease severity scores were recorded. The six most frequent MEFV mutations including M694V, V726A, R726H, P369S, E148Q and P369S were investigated by a reverse hybridization test method. The median age of study group was 9.0 years, median age at diagnosis was 7.8 years, median age at disease onset was 5.0 years, and median follow-up duration was 4.0 years. A positive family history of FMF and parent-to-offspring transmission was found in 58.5 and 42.2 % of families, respectively. The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients. The M694V subgroup had higher mean disease severity score and longer attack duration compared with E148Q and other mutations subgroups (p < 0.05). Two patients with amyloidosis had the M694V homozygote genotype. In conclusion contrast to other regions and many other ethnicities of the world, the most frequent MEFV gene mutation was E148Q in southeast Turkey. The M694V mutation frequency was lower, and disease severity was relatively mild in FMF children of this region.

Paraoxonase, total antioxidant activity and peroxide levels in marasmic children: relationships with leptin.

OBJECTIVES: The aim of this study was to investigate the oxidant/antioxidant status, paraoxonase (PON) activity and leptin levels in children with marasmic malnutrition. DESIGN AND METHODS: Thirty marasmic children (age 14.4+/-10.3 months) and 28 control subjects were included. Plasma PON activity, total antioxidant activity (TAO), total peroxide (TPX) and leptin levels were measured. RESULTS: Malnourished children had significantly lower leptin (3.6+/-1.1 vs. 11.8+/-4.5 ng/mL, P<0.001), PON activity (66.4+/-28.6 vs. 221.3+/-31.6 IU/L, P<0.001) and TAO (1.44+/-0.12 vs. 2.45+/-0.61 mmol Trolox equiv/L, P<0.001); and higher TPX (15.6+/-6.4 vs. 5.9+/-1.9 micromol/L, P<0.001) values than in controls. Significant negative correlation was found between PON and TPX (P=0.040) and positive correlation between TAO and BMI (P=0.034) in patients. No significant correlation was found between leptin and oxidant/antioxidant parameters (P>0.05). CONCLUSIONS: Children with marasmic malnutrition had increased pro-oxidant and decreased antioxidant status. Extent of oxidative stress increases with malnutrition severity. Antioxidants could be given during nutritional rehabilitation.