Clinical Profile of Familial Mediterranean Fever in a Paediatric Population in Eastern Turkey.

OBJECTIVE: Clinical and genetic findings of familial Mediterranean fever (FMF) may vary in different populations. Environmental factors may also affect phenotypic features of FMF. In this study, we investigated demographic, clinical and mutational features of FMF patients treated in a single reference hospital in Turkey. SUBJECTS AND METHODS: One hundred and ninety-seven patients were included. The 11 mutations most frequently seen in FMF were investigated in these patients. Patients were assessed as homozygous, heterozygous, compound heterozygous or non-mutation bearing. Clinical and laboratory examinations in the attack and attack-free periods were recorded. A disease severity score was calculated for each patient. RESULTS: One hundred patients were female and 97 male. The most commonly seen mutations in our region was M694V (51.7%). The most frequent clinical findings in our patients was gastric pain (90.1%), followed by fever (82.2%). The highest disease severity score was determined in patients with homozygous M694V. Sedimentation values were significantly high in patients with homozygous M694V mutation, while no statistically significant difference was determined among other acute phase reactants and haemoglobin and leukocyte values. CONCLUSION: Changes in acute phase reactants in attack and attack-free periods are used as diagnostic tools in FMF. Severity and frequency of attacks are clearly correlated with mutations. However, the fact that the clinical course can differ even in individuals with mutations reveals the importance of environmental factors.

An Examination of the Effects of Leuprolide Acetate Used in the Treatment of Central Precocious Puberty on Bone Mineral Density and 25-Hydroxy Vitamin D.

AIM: Leuprolide acetate is a gonadotropin-releasing hormone (GnRH) analogue frequently used in the treatment of central precocious puberty. Research is currently taking place into its effects on endocrine systems. The aim of this study is to investigate the effect of leuprolide acetate on vitamin D and bone mineral density. METHODS: Twenty-three children diagnosed with central precocious puberty and receiving leuprolide acetate therapy for at least 12 months, and a control group of 17 healthy children were enrolled. In the study group, calcium, phosphorus, alkaline phosphatase, parathormone and 25-hydroxy vitamin D levels and bone mineral density were measured. The results were compared with those of the control group. RESULTS: 25-Hydroxy vitamin D levels in the study and control groups were 15.17 ± 7 mg/dL and 22.2 ± 6.1 mg/dL, respectively (p < 0.05). In terms of bone mineral density, osteopenia was determined in 13 (56.5%) patients in the study group and osteoporosis in one (4.3%), while osteopenia was identified in seven patients in the control group, with no osteoporosis being identified (p > 0.05). CONCLUSION: Gonadotropin-releasing hormone agonists may have an adverse effect on bone health. They may exhibit these effects by impacting on vitamin D levels. These levels should be periodically monitored in patients receiving treatment, and vitamin D support should be given in cases where the deficiency is identified.

The effects of thiamine and thiamine pyrophosphate on alcohol-induced hepatic damage biomarkers in rats.

OBJECTIVE: This study examined the effects of thiamine and thiamine pyrophosphate on oxidative damage developing in association with hepatic injury caused by alcohol toxicity in rats and on hepatic injury markers. MATERIALS AND METHODS: Four groups of rats were used; control, a group receiving thiamine+ethanol, a group receiving thiamine pyrophosphate+ethanol and a healthy group. The experimental protocol was repeated over 30 days. Malondialdehyde, glutathione and DNA damage product levels in liver tissue were measured at the end of the study. Alanine amino transferase and aspartate amino transferase, markers of liver damage, levels were determined. The results were then compared among the groups. RESULTS: A statistically significant difference between antioxidant markers and markers of liver damage was determined between the group given thiamine pyrophosphate ethanol and the group given ethanol alone (p < 0.01) No statistically significant difference was observed between the group given thiamine and ethanol and the group given ethanol alone (p > 0.01). CONCLUSIONS: Our results suggest that thiamine pyrophosphate may have a protective effect against liver damage caused by alcohol toxicity.

Hypertrophic Cardiomyopathy as a Clinical Component of Congenital Cytomegalovirus Infection.

We report hypertrophic cardiomyopathy in a newborn with congenital cytomegalovirus infection. The neonate had distinct signs of congenital cytomegalovirus infection including petechiae, jaundice, intracranial calcifications, cerebral ventriculomegaly and chorioretinitis together with hypertrophic cardiomyopathy. Following determination of anti-cytomegalovirus IgM, viral DNA was also isolated from the plasma of the patient by polymerase chain reaction. Although cytomegalovirus is a relatively frequent cause of myocarditis in childhood, it was rarely reported to be associated with cardiac abnormalities such as structural heart disease, atrioventricular block, or dilated cardiomyopathy. To our knowledge, this is the first case with congenital cytomegalovirus infection and hypertrophic cardiomyopathy.

Effect of vitamin D therapy in addition to amitriptyline on migraine attacks in pediatric patients.

The purpose of this study was to investigate the effect of supplementary vitamin D therapy in addition to amitriptyline on the frequency of migraine attacks in pediatric migraine patients. Fifty-three children 8-16 years of age and diagnosed with migraine following the International Headache Society 2005 definition, which includes childhood criteria, were enrolled. Patients were classified into four groups on the basis of their 25-hydroxyvitamin D [25(OH)D] levels. Group 1 had normal 25(OH)D levels and received amitriptyline therapy alone; group 2 had normal 25(OH)D levels and received vitamin D supplementation (400 IU/day) plus amitriptyline; group 3 had mildly deficient 25(OH)D levels and received amitriptyline plus vitamin D (800 IU/day); and group 4 had severely deficient 25(OH)D levels and was given amitriptyline plus vitamin D (5000 IU/day). All groups were monitored for 6 months, and the number of migraine attacks before and during treatment was determined. Calcium, phosphorus alkaline phosphatase, parathormone, and 25(OH)D levels were also determined before and during treatment. Results were compared between the groups. Data obtained from the groups were analyzed using one-way analysis of variance. The number of pretreatment attacks in groups 1 to 4 was 7 ± 0.12, 6.8 ± 0.2, 7.3 ± 0.4, and 7.2 ± 0.3 for 6 months, respectively (all P > 0.05). The number of attacks during treatment was 3 ± 0.25, 1.76 ± 0.37 (P < 0.05), 2.14 ± 0.29 (P < 0.05), and 1.15 ± 0.15 (P < 0.05), respectively. No statistically significant differences in calcium, phosphorus, alkaline phosphatase, or parathormone levels were observed (P > 0.05). Vitamin D given in addition to anti-migraine treatment reduced the number of migraine attacks.

Effect of vitamin D therapy in addition to amitriptyline on migraine attacks in pediatric patients

The purpose of this study was to investigate the effect of supplementary vitamin D therapy in addition to amitriptyline on the frequency of migraine attacks in pediatric migraine patients. Fifty-three children 8-16 years of age and diagnosed with migraine following the International Headache Society 2005 definition, which includes childhood criteria, were enrolled. Patients were classified into four groups on the basis of their 25-hydroxyvitamin D [25(OH)D] levels. Group 1 had normal 25(OH)D levels and received amitriptyline therapy alone; group 2 had normal 25(OH)D levels and received vitamin D supplementation (400 IU/day) plus amitriptyline; group 3 had mildly deficient 25(OH)D levels and received amitriptyline plus vitamin D (800 IU/day); and group 4 had severely deficient 25(OH)D levels and was given amitriptyline plus vitamin D (5000 IU/day). All groups were monitored for 6 months, and the number of migraine attacks before and during treatment was determined. Calcium, phosphorus alkaline phosphatase, parathormone, and 25(OH)D levels were also determined before and during treatment. Results were compared between the groups. Data obtained from the groups were analyzed using one-way analysis of variance. The number of pretreatment attacks in groups 1 to 4 was 7±0.12, 6.8±0.2, 7.3±0.4, and 7.2±0.3 for 6 months, respectively (all P>0.05). The number of attacks during treatment was 3±0.25, 1.76±0.37 (P<0.05), 2.14±0.29 (P<0.05), and 1.15±0.15 (P<0.05), respectively. No statistically significant differences in calcium, phosphorus, alkaline phosphatase, or parathormone levels were observed (P>0.05). Vitamin D given in addition to anti-migraine treatment reduced the number of migraine attacks.

An investigation of the effect of thiamine pyrophosphate on cisplatin-induced oxidative stress and DNA damage in rat brain tissue compared with thiamine: thiamine and thiamine pyrophosphate effects on cisplatin neurotoxicity.

This study investigated the effects of thiamine pyrophosphate (TPP) at dosages of 10 and 20 mg/kg on oxidative stress induced in rat brain tissue with cisplatin and compared this with thiamine. Cisplatin neurotoxicity represents one of the main restrictions on the drug being given in effective doses. Oxidative stress is considered responsible for cisplatin toxicity. Our results showed that cisplatin increased the levels of oxidant parameters such as lipid peroxidation (thio barbituric acid reactive substance (TBARS)) and myeloperoxidase (MPO) in brain tissue and suppressed the effects of antioxidants such as total glutathione (GSH) and superoxide dismutase (SOD). TPP, especially at a dosage of 20 mg/kg, significantly reduced TBARS and MPO levels that increase with cisplatin administration compared with the thiamine group, while TPP significantly increases GSH and SOD levels. In addition, the level of 8-Gua (guanine), a product of DNA damage, was 1.7 ± 0.12 8-hydroxyl guanine (8-OH Gua)/105 Gua in brain tissue in the control group receiving cisplatin, compared with 0.97 ± 0.03 8-OH Gua/105 Gua in the thiamine pyrophosphate (20 mg/kg) group and 1.55 ± 0.11 8-OH Gua/105 Gua in the thiamine (20 mg/kg) group. These results show that thiamine pyrophosphate significantly prevents oxidative damage induced by cisplatin in brain tissue, while the protective effect of thiamine is insignificant.

The Evaluation of The Effects of Paternal And Maternal Silent Coeliac Disease on Birthweight and Gestational Age in Newborns.

OBJECTIVE: Coeliac disease is a chronic disease and is common all over the world. It has many other associated systemic side effects. This study investigated the effect of paternal and maternal silent coeliac disease on birthweight and gestational age in newborns. METHODS: The study group consisted of 81 newborns who were hospitalized for prematurity or term-intrauterine growth retardation. The parents of premature and/or small for gestational age babies born with coeliac disease-specific antigens were investigated. RESULTS: The differences were not statistically significant in fathers' tissue transglutaminase levels between premature appropriate gestational age, premature small gestational age and term small gestational age infants (p > 0.05), but statistically significant in mothers (p < 0.05). CONCLUSIONS: Silent coeliac disease may occur in parents, especially in mothers of preterm and small for gestational age infants, even in the absence of apparent clinical indications.

Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever.

Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. These groups were monitored for 2 years, and blood samples were collected every 6 months during attack-free periods. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and white blood cell count were measured. A disease severity score was determined for each patient. Mean values for erythrocyte sedimentation rate and fibrinogen were significantly different in the homozygous group. White blood cell count and C-reactive protein were similar between the groups. Disease severity score was higher in patients with the M694V mutation than in individuals without the mutation, as well as in those with other mutation groups. Periodic follow-up of patients with FMF MEFV mutations in subjects with acute-phase reactants may be useful in the prevention of morbidity.

Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. These groups were monitored for 2 years, and blood samples were collected every 6 months during attack-free periods. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and white blood cell count were measured. A disease severity score was determined for each patient. Mean values for erythrocyte sedimentation rate and fibrinogen were significantly different in the homozygous group. White blood cell count and C-reactive protein were similar between the groups. Disease severity score was higher in patients with the M694V mutation than in individuals without the mutation, as well as in those with other mutation groups. Periodic follow-up of patients with FMF MEFV mutations in subjects with acute-phase reactants may be useful in the prevention of morbidity.

Paraoxonase 1 and arylesterase levels in children with familial Mediterranean fever.

BACKGROUND: The pathogenesis of Familial Mediterranean Fever (FMF) is not clearly elucidated. It emerges as a result of triggering of the several environmental factors at the people who are genetically vulnerable. OBJECTIVES: To evaluate the anti-oxidant enzymes at the remission period of familial mediterranean fever (FMF). MATERIALS AND METHODS: Study group is consisted of 80 patients between the age of 2 and 16 years old who are routinely followed up. The control group is consisted of 80 healthy children whose physical examination is normal, and whose demographic findings are similar to the study group. Paraoxonase 1 (PON1) and arylesterase (ARE) levels are measured at both study and control group. RESULTS: The difference between the levels of ARE and PON1 are statistically significant between the FMF and control group (p = 0.007, p = 0.001). According to the weight scoring, ARE and PON1 levels of light cases are higher versus the levels of moderate cases (p < 0.01). CONCLUSIONS: Endogenous anti-oxidants Paraoxonase 1 and arylesterase levels are important in evaluating the inflammation at the remission period of FMF.

A rare cause of rhabdomyolysis from Brucella: a case report.

Rhabdomyolysis is caused by myocyte necrosis, which results in the release of muscular cell contents into the circulation and extracellular fluid. We present a case of rhabdomyolysis due to brucella infection without any complications. Following the treatment for brucella, creatinine kinase level was significantly reduced. Rhabdomyolysis associated with brucella is rare in children.

Central serous retinopathy. A generalized disease of the pigment epithelium.

Among cases of central serous retinopathy, patients have been isolated with retinal pigment epithelial (RPE) and sensory retinal detachments. An analysis of 104 cases occurring during the period from 1972 to 1977 indicates that this disorder is frequently bilateral and that it is associated with different disturbances of the epithelial cell layer, i.e. foci of leakage, transmission defects and serous detachments. Based upon the angiographic studies in 76 cases, we propose the following classification for cental serous retinopathy: I. Unilateral Retinopathy. (A) Uniocular involvement: (1) with focal leakage but no other RPE changes; (2) with focal leakage and other RPE changes; (3) with focal leakage, RPE changes and an exudative retinal detachment. (B) Binocular involvement: (1) mild; (2) moderate; (3) severe (with an exudative retinal detachment in the affected eye). II. Bilateral Retinopathy. (A) Mild; (B) moderate, (C) severe (in association with bilateral exudative retinal detachments). This classification emphasizes the fact that central serous retinopathy, whatever its etiology, represents a generalized affectation of the pigment epithelium and should be construed as a potentially serious disorder requiring thorough evaluation and follow-up care.