Genetic polymorphisms of paraoxonase1 192 and glutathione peroxidase1 197 enzymes in familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an autosomal recessive disorder and is the most frequent of the periodic febrile inflammatory syndromes. The pathogenesis of the disease is not completely understood, even though the FMF gene has been identified. Oxidative stress and inflammation may play a role in the pathogenesis of FMF. We investigated gene polymorphisms of the antioxidative enzymes, glutathione peroxidase (GPX) and paraoxonase (PON) in FMF patients, and possible associations with FMF pathogenesis. Sixty FMF patients during an attack-free period and 51 healthy children as the control group were included in our study. PON1 Q/R192 and GPX1 Pro197Leu gene polymorphisms were assayed. Blood urea nitrogen, creatinine and serum lipid profile were also measured. PON1 Q/R192 genotype distribution was 52% QQ, 46% QR and 2% RR in the FMF group and 45% QQ, 45% QR and 10% RR in the control group (P>0.05). GPX1 Pro197Leu genotype distribution was 28% PP, 57% PL, 15% LL in the FMF group and 18% PP, 53% PL, 29% LL in the control group (P>0.05). Blood urea nitrogen, serum creatinine, lipid levels, and the distribution of PON1 Q/R192 and GPX1 Pro197Leu genotypes were similar in the two groups. We conclude that the PON1 Q/R192 and GPX1 Pro197Leu gene polymorphisms are not important risk factors in the development of FMF. However, larger studies are warranted to validate these conclusions.

Volatile solvent abuse caused glomerulopathy and tubulopathy in street children.

Substance misuse among street children is a significant problem in developing countries. Volatile substances are the most abused agents. According to case reports, chronic renal diseases are common among substance-abusing street children. In this study, we examined the renal findings of 42 volatile substance-abusing street children and compared them with results from 49 healthy children (control). The street children's weight, height, and blood pressure were lower than the controls' (P < 0.05). However, their blood alkaline phosphatase and creatinine phosphokinase levels were higher (P < 0.05), and total blood protein, creatinine, and phosphorus levels were lower than the controls' (P < 0.05). Furthermore, the street children's glomerular filtration rates were within normal limits (P < 0.05), their urinary N-acetyl-beta-glucosaminidase (NAG), beta(2)-microglobulin, microalbumin, protein, calcium, phosphorus, sodium, potassium, and chloride excretions were higher, and tubular phosphate reabsorption were lower than the controls' (P < 0.05). Volatile substances have been charged with causing distal tubular disease, but increased urinary protein, NAG, beta(2)-microglobulin, microalbumin, and electrolyte excretions also result from glomerular, proximal, and distal tubular influences. We believe that increased volatile substance products in the renal parenchyma are responsible for glomerular and tubular damage. Volatile substance-abusing street children should be examined for glomerular and proximal tubular function and distal tubular acidosis.

Urinary epidermal and insulin-like growth factor excretion in autistic children.

Growth factors have been implicated in the pathogenesis of autism. We have investigated daily urinary excretion of insulin-like growth factor-1 (IGF-1), epidermal growth factor, and insulin-like growth factor binding protein-3 in autistic children (n=34, age 2-5 years) and age-matched control children (n=29). The mean urinary IGF-1 level was lower in the autism group than the control group (p=0.03). Height was normal. These findings suggest altered IGF-1 metabolism in young autistic children. The cause-effect relationship should be examined by longitudinal studies and insulin-like growth factor provocation tests.

Proton MR spectroscopy: higher right anterior cingulate N-acetylaspartate/choline ratio in Asperger syndrome compared with healthy controls.

BACKGROUND AND PURPOSE: One former study reported higher prefrontal N-acetylaspartate (NAA) levels in patients with Asperger syndrome (AS). The objective of the current study was to test the hypothesis that patients with AS would have higher dorsolateral prefrontal and anterior cingulate cortex NAA/creatine (Cr) and that NAA/Cr would be correlated with symptom severity. MATERIALS AND METHODS: NAA/choline (Cho), NAA/Cr, and Cho/Cr values revealed by (1)H-MR spectroscopy in 14 right-handed male patients with AS (6 medicated with risperidone), 17-38 years of age, diagnosed by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, criteria were compared with those of 21 right-handed male controls frequency-matched by age and intelligence quotient scores. RESULTS: Patients with AS had significantly higher anterior cingulate NAA/Cho levels (z = -2.18, P = .028); there was a statistical trend for higher anterior cingulate NAA/Cr (z = -1.81, P = .069) that was significant when only the unmedicated patients with AS were taken into account (z = -1.95, P = .050). There were no significant differences in dorsolateral prefrontal MR spectroscopy values. CONCLUSIONS: Our findings show that individuals with AS had higher NAA/Cho levels in the right anterior cingulate compared with healthy controls and that higher anterior cingulate NAA/Cho levels were correlated with higher Yale-Brown Obsessive Compulsive Scale total scores.

Magnetic resonance imaging and diffusion-weighted imaging in methylmalonic acidemia.

Methylmalonic acidemia (MMA) is an inborn disorder of amino acid metabolism, often presenting with neurological symptoms. We present the results of magnetic resonance imaging (MRI) and diffusion-weighted imaging (DWI) of the brain in a 16-month-old male patient with classic neurological and laboratory findings for MMA. MRI demonstrated the hyperintensity within globi pallidi both on T2-weighted image and DWI during the acute episode of metabolic acidosis.

Functional magnetic resonance imaging in children with Asperger's syndrome.

Asperger's syndrome is a pervasive developmental disorder of unknown etiology. We evaluated children with this syndrome (n = 9) and control (n = 8) children by functional magnetic resonance imaging (MRI) during a task involving social judgment. All control and 5 of 9 subjects with Asperger's syndrome showed signal intensity changes in frontal regions. Four patients with Asperger's syndrome, including one case with right frontal dysplasia, had no signal intensity change during the task. In this first functional MRI study of childhood Asperger's syndrome, frontal activation patterns demonstrated some differences between patients and normal subjects. Further studies using other functions frequently impaired in Asperger's syndrome are warranted.

Lupus nephritis in children: prognostic significance of clinicopathological findings.

BACKGROUND: We aimed to review our experience with childhood lupus nephritis (LN) in respect to the analysis of the clinical and histopathological presentation of LN and prognostic factors affecting the kidney and patient outcomes. METHOD: Forty-three children (39 girls, 4 boys) with biopsy-proven LN were included in the study. The mean age of the children was 12.0 +/- 2.8 years. Based on the renal histopathology and clinical presentation, patients were treated with oral prednisone, intravenous pulses of methylprednisolone or intravenous cyclophosphamide. The final clinical status was classified as follows: (1) renal and extrarenal remission; (2) clinically active renal disease, or (3) adverse outcome, i.e., end-stage renal failure (ESRF) or death. RESULTS: The mean duration of follow-up was 7.2 +/- 2.8 years (1 month to 14.2 years). All 43 children had hematuria and 53.5% had proteinuria at admission. Fourteen children were in nephrotic status at the onset of disease. Class IV (diffuse proliferative) nephritis was observed in 29 patients as the most frequent histopathology (67.4%). The patients with class IV nephritis had a tendency to develop nephrotic syndrome, heavy proteinuria, increased Cr levels and persistent hypertension at initial evaluation. Thirty-two of 43 children (74.4%) were in renal remission at the last visit. Five-year kidney and patient survival rates from the time of diagnosis to the endpoints of ESRF or death were 83.7 and 90.7% respectively in the whole group while it was 75.9 and 86.2% respectively in the class IV group. Adverse outcome was significantly associated with the persistent hypertension, anemia, high serum Cr level, heavy proteinuria, nephrotic syndrome and class IV nephritis at presentation. CONCLUSION: We can conclude that the prognosis of LN in children is primarily dependent on the histopathological lesions. Severity of the clinical renal disease at admission and presence of persistent hypertension are the main poor prognostic factors rather than age, gender, low C3 and C4 levels, ANA positivity and the treatment modalities in Turkish children.

Tracheal reconstruction using alcohol-stored homologous cartilage and autologous cartilage in the rabbit model.

OBJECTIVE: Reconstruction of laryngotracheal stenosis continues to pose a significant challenge. Cartilage grafts have been in use for almost a century, but despite good clinical results, many questions concerning the survival and growth of implanted cartilage persist. To reduce donor site morbidity, the use of homologous cartilage has been investigated. This study compared alcohol-stored homologous auricular cartilage with autologous auricular cartilage for anterior graft laryngotracheal reconstruction in a rabbit model. METHODS: Autologous and alcohol preserved homologous auricular cartilage was transplanted to the resected anterior tracheal wall of the twenty New Zealand rabbits. Rabbits were sacrificed 6 weeks after surgery and histologic analysis was performed on the implanted cartilage grafts. RESULTS: The autografts were significantly more likely than the homografts to demonstrate viable cells (95% vs. 30%, P<0.05) and less likely to exhibit significant resorption, fibrosis or necrosis (P<0.05). Resorption and necrosis were most common in areas of trauma to the graft. Complete epithelialization occurred in all of the autografts but in only 65% of the homografts (P<0.05). New cartilage formation and integration of the implanted grafts was poor with both types of grafts. CONCLUSION: Autologous cartilage appears to have better survival than alcohol preserved homologous cartilage when used for anterior graft laryngotracheal reconstruction in a rabbit model.

Endovascular treatment of arteriovenous fistulas complicating percutaneous renal biopsy in three paediatric cases.

DESIGN: We evaluated the incidence and history of arteriovenous fistula (AVF) after kidney biopsy and assessed the use of superselective embolization for treatment. OBSERVATIONS: During the last 10 years, 896 kidney biopsies (age range of the patients: 1 month-18.6 years) have been performed in our institution under real-time ultrasonographic guidance with a 14 gauge cutting biopsy needle, and 32 of the patients had renal allografts (3.4%). We observed three cases of AVF (two in allograft kidneys, one in a native kidney) among all biopsies (0.34%), and the incidence of developing AVF after renal allograft biopsy was 6.3%. All three patients with AVF were symptomatic, and intravascular therapy was indicated. INTERVENTIONS: An angiographic study combined with endovascular treatment of the intrarenal AVF and pseudoaneurysm was performed in all three patients. Embolization was performed with bucrylate and lipiodol in two patients and with micro-coils in one. After successful embolization, all three patients became asymptomatic (in two renal bleeding stopped, in one patient with severe uncontrollable hypertension blood pressure returned to normal limits). No complications were observed secondary to the embolization procedure. CONCLUSION: The technique of superselective embolization using a coaxial catheter is an effective and safe method in the treatment of post-biopsy AVFs and pseudoaneurysm.

Demographic features and psychosocial problems in single-parent families: 1985 to 1995.

Single-parent families and children seen in Hacettepe University's Department of Child and Adolescent Psychiatry in 1985 and 1995 were evaluated. Divorce was the most frequent reason for single parenthood. Children of divorced families experienced a higher number and severity of symptoms, and a longer delay before applying for medical help. Oppositional defiant behavior was at equal frequency in all groups, but suicide attempts, school failure due to psychological causes, conduct disorder, and somatoform disorders were more frequent in divorced families. Divorced mothers were more likely to have a higher level of education and were more likely to work. From 1985 to 1995, mothers' age and educational level increased; the number and age of children decreased. Studies on such families are indicated to determine risk factors for psychosocial problems and to develop preventive measures.

Attention deficit hyperactivity disorder (ADHD): a practical scale for pediatricians.

Attention deficit hyperactivity disorder (ADHD) is a common disturbance causing school failure and social problems. Early diagnosis and intervention allow ADHD children to adjust and succeed at school and in daily life. To identify these patients, we designed a practical questionnaire for parents. When tested on children with ADHD (n = 100), children with psychiatric problems (n = 35), and on age- and sex-mached control children (n = 100), this scale was found to be highly useful in distinguishing these three groups from each other, especially after the identification and elimination of items with lower specificity. The use of the Hacettepe ADHD scale is recommended for pediatricians, general practitioners and teachers to allow earlier diagnosis of this condition.

Psychological disturbance in fibromyalgia: relation to pain severity.

Fibromyalgia is a form of nonarticular rheumatism characterized by musculoskeletal aching and tenderness on palpation. The role of psychological factors in fibromyalgia has been controversial. The aim of this study was to evaluate the relationship of fibromyalgia to the intensity of anxiety and depression and to determine the correlation between psychological disturbances with disease duration and pain severity. Thirty-nine patients with fibromyalgia and 36 healthy controls were included in this study. Beck depression inventory, State and trait anxiety inventory and Beck hopelessness scale were used to evaluate psychological disturbances. Visual analog scale was used to determine pain intensity. We found a significant difference in the psychological status between patients with fibromyalgia and control subjects as measured by Beck depression inventory and trait anxiety inventory; 35.9% of the patients scored higher than the cut-off score on the Beck depression rating scale. Pain severity was found to be correlated with trait anxiety inventory scores. These results suggest that somatic expression of depression is an important difference between fibromyalgia and control groups. The difference between state and trait anxiety inventory reflects that current anxiety is not secondary to pain but trait anxiety is possibly causally related to pain.

Long-term follow-up of patients with subacute sclerosing panencephalitis treated with intraventricular alpha-interferon.

We treated 22 patients with subacute sclerosing panencephalitis (SSPE) with intraventricular alpha-interferon (alpha-IFN) and oral inosiplex between 1986 and 1991. The follow-up for 56 to 108 months demonstrates a higher survival rate in these patients compared with those who did not receive alpha-IFN. However, eight of 11 patients whose condition improved after alpha-IFN treatment and five of five patients whose condition stabilized after alpha-IFN experienced neurologic deterioration 6 to 90 months after treatment; three of 11 and four of five died. The use of inosiplex did not influence the prognosis. Re-administration of the same regimen was not effective in one patient. Treatment-induced remissions in SSPE can be temporary, analogous to spontaneous remissions. Longer treatment with higher doses, or combinations of drugs, may be required.

Intraventricular interferon and oral inosiplex in the treatment of subacute sclerosing panencephalitis.

We treated 22 patients with subacute sclerosing panencephalitis (SSPE) with intraventricular alpha-interferon (IFN) and inosiplex PO and followed them for 2 to 54 months. Three deaths occurred. Clinical improvement, demonstrated by decreasing scores on the Neurological Disability Index, occurred in 11/22 (50%); five patients became stable, and the progression rate of the disease decreased in three. The remission rate was significantly higher than untreated controls from the same institution. Patients who had a slowly progressive disease responded best to treatment. Serious side effects were rare. We recommend intraventricular IFN, combined with oral inosiplex, in the treatment of SSPE.