Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever.

BACKGROUND: Familial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered in the Mediterranean region. We aimed to investigate the correlation between genetic mutations and the clinical findings in 562 patients with FMF. METHODS: In this retrospective cross-sectional study conducted with patients' files between 2006, and 2013, reverse hybridization assay for MEFV gene mutations was used and the 12 most frequent mutations were screened. Mutation types and clinical findings were compared with variance analysis. RESULTS: The mean age was 6.9 ± 3.4 years (range, 1.8-11.6 years). The most common symptom was fever (97.3%). Thirty-four of the patients (6.04%) were admitted with periodic fever only. Of these patients, M694V was the most common mutation type (73.5%). The percentage of the patients predominantly presenting with recurrent abdominal pain was 77.78% and the most frequent mutations were M694V and E148Q. The rate of arthritis and arthralgia was significantly higher in patients with M694V and E148Q mutations. Chest pain was reported more often in patients homozygous for M694V (61.4%). Pericardial effusion was documented in the echocardiography of 10.9% of the 229 children with chest pain. Some patients had both FMF and Henoch Schönlein purpura (HSP), and were more likely to harbor either homozygote M694V or E148Q mutations. The frequency of episodes was higher in patients with homozygous M694V mutations (number of attacks = 4.4 ± 1.6/month). Proteinuria was detected in 106 patients of cases (29.2%), at an average of 854 ± 145 mg/L. Most of the patients with proteinuria and elevated serum amyloid-A had homozygous M694V mutation. CONCLUSION: The most common mutation in children in Turkey with FMF is the M694V mutation. Recurrent abdominal pain, arthritis or arthralgia, chest pain, and pericarditis were commonly seen in patients with M694V and E148Q mutations.

Frequency of common viruses in etiology of acute respiratory tract infections.

OBJECTIVE: To determine the frequency rate of C. pneumoniae, rhinovirus, respiratory syncytial virus (RSV), influenza virus, metapneumovirus, adenovirus', parainfluenza virus and coronavirus in acute respiratory tract infections in children. METHODS: One hundred nine pediatric patients having respiratory tract infections were included in this study. Real time PCR, DFA and cell culture method were used for detection of C. pneumoniae, RSV antigen and influenza virus respectively. Multiplex PCR was used for detection of other viruses. RESULTS: No C. pneumoniae DNA was detected in the samples. Virus was detected in 43 cases from larynx swabs (43/109, 39.4 %). The frequency order of the viral agents detected were as follows; rhinoviruses 14.7 %, RSV B 7.3 %, influenza A 6.4 %, metapneumovirus 3.6 %, adenovirus 3.6 %, coronavirus 0.9 %, parainfluenzavirus type 3, 0.9 %, parainfluenzavirus type 4, 0.9 % and RSV A 0.9 %. Sensitivity of the PCR and DFA methods for the diagnosis of RSV infections were detected as 100 % and 100 %, respectively. Specificity of the PCR and DFA methods for RSV infections were detected as 97 % and 100 % respectively. Sensitivity of the PCR and cell culture methods for influenzavirus infections were detected as 100 % and 100 %, respectively. Specificity of the PCR and DFA methods for RSV infections were detected as 96 % and 100 % respectively. CONCLUSIONS: Prevalence of viral agents was detected as 39.4 %. Influenza viruses and RSV were common. Metapneumovirus was also frequent (3.6 %). C. pneumoniae was not found to be a common agent for acute respiratory disease in children.

Clinical and laboratory characteristics of children referred for early puberty: preponderance in 7-8 years of age.

OBJECTIVE: The aim of this study was to evaluate the girls referred to the pediatric outpatient clinic with a presumptive diagnosis of early puberty due to early onset of breast development or pubarche. METHODS: Within the study period, we evaluated 289 subjects referred for concerns about early onset of puberty. History, anthropometric data, bone age (BA), hormones including luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol, and dehydroepiandrosterone sulfate, as well as pelvic ultrasonography (USG)-derived ovarian and uterine volumes were analyzed. RESULTS: Of the 289 girls referred for early onset of pubertal development, 64 (22.1%) had false alarms for puberty. Of the remaining 225 girls, 41 (18.2%) were diagnosed as premature pubarche, 56 (24.9%) as premature thelarche (PT), and 128 (56.9%) as precocious puberty (PP). Girls with early-onset puberty had more advanced BA, greater uterine and ovarian volumes, and also higher LH values than subjects with PP and PT. Nearly half of these girls were 7-8 years of age. Body mass index (BMI) standard deviation score was significantly higher in the PP cases. CONCLUSIONS: There is a need for primary care physicians to be more knowledgeable on puberty and on puberty problems. There seems to be a preponderance of PP in 7-8-year-old children . Increased BMI may have a role in the trend towards earlier onset of puberty.

Acute obstructive respiratory tract diseases in a pediatric emergency unit: evidence-based evaluation.

OBJECTIVES: The objective of this study was to determine the evidence-based performance of the pediatric emergency unit in the diagnosis of and treatment approach to the patients with asthma, bronchiolitis, and croup. METHODS: In this study conducted in a retrospective cross-sectional way, emergency cards and computer data have been used. In the performance evaluation, the National Hospital Ambulatory Medical Care Survey criteria were considered. In the evaluation of performance in diagnosis, the rates of chest x-ray studies and use of corticosteroids and antibiotics were examined. Use of antibiotics in the cases not having a fever or any symptoms of bacterial infection and failure in prescribing steroids to the cases with moderate-to-severe symptoms were considered as bad performance criteria. χ(2) test was used for the data, which can be classified; Mann-Whitney U and Student t tests were used for the data with normal distribution and for the continuous variables. RESULTS: Study groups were composed of 2795 patients (1742 cases with asthma, 115 cases with croup, 938 cases with bronchiolitis) aged between 3 and 140 months (mean [SD], 41.2 [31] months). Chest x-ray study was requested significantly more often in the cases of bronchiolitis and croup with severe symptoms. In asthma cases, chest x-ray study was requested in those with severe clinical symptoms. In all 3 groups, a significant difference between the severity levels of the cases, from whom hemogram was requested, was determined. Biochemical tests were requested more often in those with severe bronchiolitis or asthma. Antibiotics were prescribed to none of the mild bronchiolitis cases. However, steroids were recommended more often to patients with moderate and severe bronchiolitis. They were administered to all patients with croup. Systemic steroids were prescribed more often to those with moderate or severe asthma. CONCLUSIONS: In our unit, both antibiotics administration and chest x-ray studies requested in patients with bronchiolitis, croup, and asthma were in low rates. Steroids in asthma attacks were found to be high in severe cases and in croup cases as well.

Acute hepatitis A virus infection in Turkey.

Anti-HAV IgM positive serum samples from acute phase hepatitis A patients from various areas in Turkey were tested for viral RNA by RT-PCR (reverse transcriptase polymerase chain reaction), using primer pairs from two different regions of the HAV genome. The PCR products amplified from both genomic regions underwent phylogenetic analyses. A comparison of the regions showed the same genotyping results, and the RT-PCR-2 in the 5'NCR demonstrated greater sensitivity compared to RT-PCR-1 in the VP1-P2A region. The majority of the isolates belonged to genotype IB and are related closely to each other; however, two isolates related even more strongly to the HAV HM175 strain. Two (n = 37) RT-PCR positive sera were classified under genotype IA. A surprising finding emerged for the mean levels of serum transaminases AST and ALT: higher levels were found in patients under 10 years of age compared to older patients. Anti-HAV IgM levels were determined quantitatively and, in addition, the HAV-RNA genome equivalents were ascertained by real time RT-PCR. No evidence was found for an association between viral load and the higher transaminase levels in the younger group.

Is acetaminophen as effective as an antihistamine-decongestant-acetaminophen combination in relieving symptoms of acute nasopharyngitis in children? A randomised, controlled trial.

OBJECTIVES: To determine the efficiency of drugs, which include antihistaminic-decongestant-acetaminophen agents versus only acetaminophen in symptomatic treatment of acute nasopharyngitis in children. METHODS: This clinical, randomized, controlled, single blind drug efficacy comparison research was conducted in 148 patients with acute nasopharyngitis between ages 2 and 12 years. After randomization, Group-1 consisted of cases (n: 86), which used OTC drugs [acetaminophen+diphenhydramine+pseudoephedrin] and Group-2 consisted of cases (n: 62), which used only acetaminophen. After receiving nasal swab for showing the viral etiology, symptoms were scored clinically on admission and then on 10 days follow-up period, and re-evaluated on the third and fifth days of the drug therapy with the same scoring scale. Any complications were noted during the 1-month follow-up period after taking the drugs. RESULTS: The virus isolation rate in Group-1 was 27.9% and in Group-2 was 22.6%. At the first day of study, before medication, clinic scores of the groups did not show a significant difference (Group-1 1.7 versus Group-2 2.0). Clinic scores in both groups on the third (Group-1 4.0 versus Group-2 4.1) and fifth days of therapy (Group-1 1.7 versus Group-2 2.0) were not different either. Also, the complication rate was not different during the 1-month follow-up period (Group-1 2.3% versus Group-2 8.0%, p: 0.12). The family response for the drug satisfaction in both groups was similar and positive. CONCLUSION: For relieving symptoms of acute nasopharyngitis in children, acetaminophen without any combination is as effective as OTC drugs containing acetaminophen, decongestant, and antihistaminics.

Successful therapy of systemic xanthogranuloma in a child.

Systemic juvenile xanthogranuloma is a rare disease in children. A 10-year-old boy who showed renal, pulmonary, and liver involvement is reported. He had pulmonary invasion, renal mass, and nodular liver lesions but no bone involvement. The diagnosis was confirmed by renal biopsy, which revealed foamy, lipid-laden macrophages with positive CD68, but negative CD1a and S-100. The patient was treated with pulse high-dose methylprednisolone (10 mg/kg/d for 3 d for 6 courses). On 1-year follow-up period after 6 courses therapy was resulted in remarkable regression in renal and liver lesions.

Frequency of Chlamydia pneumoniae and Mycoplasma pneumoniae infections in children.

OBJECTIVE: Chlamydia pneumoniae and Mycoplasma pneumoniae are among the most important pathogens of acute respiratory infections in children between the ages of 5 and 15 years. We aimed to investigate seasonal frequency of respiratory infections caused by C. pneumoniae and M. pneumoniae, frequency of coinfection, clinical findings and to determine relationship between clinical findings and laboratory results. MATERIAL AND METHODS: Total of 284 patients (ranging 5-15 years of age), admitted to out-patient clinic with symptoms of respiratory tract infections between January 2004 and June 2005, were enrolled in the study. IgA, IgG and IgM antibodies against C. pneumoniae were quantitatively detected in all serum samples by using microimmunofluorescence (MIF). For the M. pneumoniae infection an IgM titer in the ELISA test were analyzed. Nasopharyngeal smear samples were collected for PCR detection. RESULTS: Mean age was 8 +/- 2.2 (range 5-14) years. Mycoplasma pneumoniae IgM in 86 (30.2%) cases, C. pneumoniae IgM in one (0.3%) case, IgA in six (2.1%) cases and IgG in 10 (3.5%) cases were found positive. In 10 (3.5%) cases, both C. pneumoniae IgG (a titer of >1/216) and M. pneumoniae IgM were found positive concomitantly. The M. pneumoniae IgM in winter was found significantly higher compared to other seasons. Mycoplasma pneumoniae PCR method was performed on a total of 203 samples in 33 (16.2%) of which M. pneumoniae was found positive. The false positive ratio of PCR technique was found 16.2%. In a total of 217 examined samples by PCR method, the DNA of C. pneumoniae was found positive in two patients. CONCLUSION: Mycoplasma pneumoniae was a common pathogen in respiratory infections. The otherwise C. pneumoniae infections were rarely seen in children. A Comparison of serology diagnostic tests for M. pneumoniae infections was found more sensitive and specific than PCR.

Neurologic and cardiac findings in children with Sydenham chorea.

This study investigated the association between cardiac and neurologic findings and the long-term prognosis in Sydenham chorea. A retrospective, descriptive study was conducted with 40 patients between 1991 and 2004. Their age, gender, clinical findings, severity of disease, presence of carditis, and neurological findings were evaluated. Patients were predominantly female (70%), and the mean age was 11.3 +/- 2.5 years. The mean duration of chorea was 5.3 +/- 3.1 months (range, 1-12 months). Chorea was mild in 30 patients, moderate in 9, and severe in 1. Carditis was confirmed by echocardiography in 28 cases (70%); the most frequently involved valve was the mitral (35%). Duration of chorea in patients with carditis did not differ significantly from that in patients without carditis. Mean follow-up time was 2.6 +/- 1.5 years. Acute flaring of acute rheumatic fever did not recur in any patient taking penicillin prophylactically. No patient had persistent chorea. Although murmurs in patients with Sydenham chorea predicts carditis with high probability, the absence of murmur does not exclude it. In patients with carditis, the mitral valve is the one most frequently involved.

Group A beta hemolytic streptococcal infections and obsessive-compulsive symptoms in a Turkish pediatric population.

The purpose of the present study was to evaluate obsessive-compulsive disease (OCD) in Turkish Children who had group A beta hemolytic streptococcal (GABHS) infections and those who had not. Thirty-one children and adolescents (the study group) were compared with 28 children and adolescents. The Children's Yale-Brown Obsessive-Compulsive Scale (CY-BOCS) scores were rated between study group and control group. The mean score, obsession and compulsion scores of CY-BOCS in the study group were significantly higher than they were in the control group (P < 0.05). The GABHS infections should be assessed in the etiology of OCD in children. Considering GABHS infections may help the treatment of OCD.

A case with quadriparetic cerebral palsy and cyanosis: congenital methemoglobinemia.

The recessive form of congenital methemoglobinemia, caused by a defect of nicotinamide adenine dinucleotide-cytb5 reductase enzyme (cytb5r), is a rare disorder clinically presenting with cyanosis. Two different forms of recessive congenital methemoglobinemia have been described: In type I, cyanosis is the only major symptom and enzyme deficiency is restricted to erythrocytes. In type II, observed in 10-15% of all patients, enzyme deficiency occurs in the entire body and cyanosis is associated with severe, progressive neurologic impairment. This report presents a 10-year-old female with recessive congenital methemoglobinemia type II. She was admitted with quadriparetic cerebral palsy, mental retardation, convulsions, swallowing difficulty, and cyanosis. Etiology of cyanosis was not clarified exactly but was readily but erroneously attributed to uncontrolled, repetitive convulsions and aspiration of excessive oral secretions. Her methemoglobin level was measured as 51%, and a diagnosis of congenital methemoglobinemia was established. Oral ascorbic acid 500 mg/day was initiated. She responded well to therapy. Interestingly, neurologic deficits improved after ascorbic acid treatment. In conclusion, cyanosis and repetitive convulsions associated with neurologic deficits may be explained by congenital methemoglobinemia, a potentially treatable condition.

Etiology of acute otitis media in childhood and evaluation of two different protocols of antibiotic therapy: 10 days cefaclor vs. 3 days azitromycin.

BACKGROUND: Acute otitis media (AOM) is a common childhood infection that is frequently treated by antibiotics. There are no prospective and comprehensive trials evaluating childhood AOM for etiologic pathogens and resistance pattern in Turkey. The aims of the study were to determine the bacterial etiologies and resistance patterns, and identify the efficacy and the relapse rates of 3 days of azitromycin and 10 days of cefaclor therapy in AOM. METHODS: This prospective, randomized, single-blind, open study was carried out in 78 cases of AOM. Mean age was 30.7+/-27 months. Tympanocentesis and aspiration of middle ear fluid (MEF) were used to obtain purulent material from the middle ear. Group 1 consisted of the cases (n=41) on azitromycin therapy and Group 2 (n=37) on cefaclor. Dosage of azitromycin was 10 mg/kg per day for 3 days and cefaclor 40 mg/kg per day for 10 days. The patients were evaluated on days 3-5 (second visit), day 10 (third visit), and day 30 (fourth visit) during follow-up. RESULTS: A total of 50 species were isolated from 44 of 78 cases from which materials were obtained (44/78; 56.4%). Most frequently isolated microorganism was Streptococcus pneumoniae (n=18; 36%), followed by Haemophilus influenzae (n=11; 22%), S. aureus (n=9; 18%), Moraxella catarrhalis (n=4; 8%), and group A beta-hemolytic streptococcus (GAS, n=4; 8%). Enterococcus faecalis was isolated from three cases and H. parainfluenzae from one. Penicillin and amoxicillin resistances of bacteria were found to be 40 and 36%, respectively. The frequency of penicillin and amoxicillin resistance in

Frequency of Mycoplasma pneumoniae among atypical pneumonia of childhood.

We aimed to investigate the frequency of Mycoplasma pneumoniae among atypical pneumonia of childhood that is acquired from the community and to determine a practical approach to the diagnosis of these patients. In this prospective study, 55 patients (31 male and 24 female) with atypical pneumonia were investigated with conventional laboratory and radiological methods as well as culture and polymerase chain reaction (PCR) on throat swab. In addition, serum of the patients was tested for M. pneumoniae specific IgM. The patients were reevaluated clinically at 3-5 days and 3-4 weeks and serologically at 3-4 weeks. The data on patients with M. pneumoniae pneumonia were compared with the other patients with atypical pneumonia and controls. All patients were treated with macrolide antibiotics. The mean age of the patients was 7.8+/-2.9 years. The frequency of M. pneumoniae by this method was 34.5%. Neither clinical, laboratory, or epidemiological data nor response to macrolide antibiotics was useful in detecting the etiology of atypical pneumonia. Diagnostic sensitivity and specificity of IgM+IgG antibodies plus PCR on throat swab were estimated as 100%. M. pneumoniae was an important microorganism in the etiology of atypical pneumonia of childhood in our community. In order to prevent loss of time with beta-lactamase antibiotics, which are usually started in severe pneumonia, serologic tests and PCR must be done during the initial evaluation of the patient for the reliable diagnosis of M. pneumoniae, which will increase the chance of early and appropriate therapy.