Amin Shahrokhi

Efficacy of intravenous immunoglobulin on the prevention of pneumonia in patients with agammaglobulinemia

Agammaglobulinemia is characterized by failure of B-cell differentiation (hypogammaglobulinemia) and increased susceptibility to bacterial infections. The present study was set up in order to evaluate the effectiveness of intravenous immunoglobulin (IVIG) treatment on the incidence of pneumonia in patients with agammaglobulinemia. We carried out chart reviews of 23 patients with agammaglobulinemia (mean age 11.5+/-5.4 years), who had been observed in a 22-year period (July 1981-January 2003) in Irans referral center for primary immunodeficiency disorders. Nineteen of these 23 (82.5%) had been infected with pneumonia at least once before receiving the immunoglobulin treatment and 11 of them had experienced multiple episodes. During treatment with gamma-globulin - over a mean period of 6.8+/-4.1 years (range: 0.8-15.3 years) - the incidence of pneumonia requiring treatment or hospitalization decreased from 0.82 to 0.12 per patient per year (P=0.006). During IVIG replacement, hospitalization due to pneumonia decreased from 0.58 to 0.05 per patient per year (P=0.08) and the immunoglobulin G level (mean+/-S.D.) changed from 66.2+/-63.9 (range: 0-210 mg dl(-1)) to 552.4+/-199.1 (range: 136-942 mg dl(-1)) (P<0.001). Treatment of agammaglobulinemia with IVIG significantly reduced the incidence of pneumonia and hospital admission. Intensive management and regular monitoring is required in order to fully prevent severe respiratory complications.

Association of IL6 single nucleotide polymorphisms with febrile seizures.

Febrile seizures (FSs) are the most common convulsive event in children. Inflammatory elements and genetics have major roles in their pathogenesis. As of the importance of interleukin-6 (IL-6) in FS, this study was performed to assess IL6 single nucleotide polymorphisms (SNPs) in a group of patients with FS. IL6 gene (-174 and +565) SNPs were studied on genomic DNAs of 90 children with FS, using PCR-SSP method. The results were compared to 139 healthy individuals. The presence of the G allele or the GG genotype at +565 position reduced risk of FS, while the A allele at +565 position of the promoter regions was a constituted risk factor for developing FS. This study could support the idea that IL6 SNPs play a role in the pathogenesis of FS.

Association of IL4 Single-Nucleotide Polymorphisms With Febrile Seizures

As of importance of interleukin-4 (IL-4) in inhibiting the production of proinflammatory cytokines, the IL4 gene polymorphisms were investigated in patients with febrile seizure. This association has not been investigated yet, except 1 study which has been done in Japanese population. Eighty-two patients with febrile seizure were enrolled in this study, compared with 139 controls. The allele and genotype frequency of 3 single-nucleotide polymorphisms of IL4 gene were determined. Frequency of the IL4-590/C allele in the patient group was significantly higher than in the control group (P < .0001). Frequency of the following genotypes was significantly lower in patients compared to controls: IL-4 (–590) TC (P = .0001) and IL-4 (–33) TC (P = .001). The most frequent IL-4 haplotype in the patient group was TCC (P = .00) haplotype. In contrast, frequencies of GCC (P = .01), TTT (P = .009), and TTC (P = .0007) haplotypes were significantly lower in febrile seizure patients. Certain alleles, genotypes, and haplotypes in the IL4 gene were overrepresented in Iranian patients with febrile seizure, which could predispose individuals to this disease, and further investigations in other ethnicities are required.

Association of Interleukin-1 Gene Cluster and Interleukin-1 Receptor Polymorphisms With Febrile Seizures

Interleukin-1 (IL-1) plays a key role in inflammation, has an effect on a wide variety of cells, and often leads to tissue destruction. While the ratio between IL-1 and IL-1Ra could influence the development of different diseases of the central nervous system, its gene polymorphisms were investigated in a group of patients with febrile seizures. Ninety patients with febrile seizures were enrolled and compared with 140 controls. The allele and genotype frequency of single nucleotide polymorphisms within the IL-1α, β, IL-1 R and IL-1Ra gene were determined. The frequency of the IL-1Ra/C allele at position Mspa-I 11100 was decreased significantly (P = .002) and the IL-1Ra/T frequency was significantly increased in patients (P = .002). In addition, the CT genotype frequency at the same position was significantly overrepresented in controls compared to patients (P = .001). Certain alleles and genotypes in the IL-1 gene were overrepresented in patients with febrile seizures, which possibly could predispose individuals to this disease.

Association of TGFB, but not IL10, single nucleotide polymorphisms with febrile seizures

PURPOSE Febrile seizures (FS) are the most common convulsive event in children. Inflammatory elements and genetics seem to have major roles in their pathogenesis. METHODS Seventy nine patients with FS were enrolled in this study and compared with 140 controls. Cytokine genotyping was performed, using polymerase chain reaction with sequence-specific primers. The allele and genotype frequency of three single nucleotide polymorphisms (SNPs) within the IL-10 gene at -1082, -819 and -592 positions (rs1800896, rs1800871, rs1800872), and two SNPs within the TGFB at codons 10 and 25 (rs1982037, rs1800471) were determined. RESULTS No significant difference was detected in allelic frequency of IL-10 at -1082, -819 and -592 positions (rs1800896, rs1800871, rs1800872) and TGFB at codon 25 (rs1800471), between patients and controls. A significant negative association was observed at the codon 10/CT (rs1982037) in the patient group (OR, 0.5; 95%CI, 0.27-0.93; p=0.026). Further, a negative association was detected in patients with simple FS at same position (OR, 0.41; 95%CI, 0.18-0.93; p=0.03), thus revealing a protective effects in FS patients. There was no significant difference in allelic and genotype frequency between simple and complex FS samples. Furthermore, haplotype analysis revealed significant difference in frequency of TGFB/TC haplotype in comparison between complex FS patients and controls (p=0.048). CONCLUSION Certain alleles, genotypes, and haplotypes in TGFB genes were over represented in patients with FS, which possibly could predispose individuals to this disease.

Single nucleotide polymorphisms of TNF-Α gene in febrile seizures

Febrile seizures (FS) is the most common seizure disorder during childhood. This study was performed in 78 patients with FS and 137 control subjects to assess polymorphisms of the TNF-α gene at positions -308 and -238, using the polymerase chain reaction and the sequence specific primers method. The highest positive allelic association that made the patients susceptible to FS was seen for TNF-α -238/G (p<0.0001). The GG genotype at TNF-α -238 was significantly higher in the patients with FS, compared to the controls (p=0.0001). Also, GA genotype at the same position was significantly lower in patients than in controls (P=0.0001). The GG haplotype had a significant positive association at TNF-α (308, 238) while GA haplotype showed a negative association (P<0.001). Our data support the idea that TNF-α single-nucleotide polymorphisms play a role in the pathogenesis of FS.

Can an anti-gravity treadmill improve stability of children with cerebral palsy?

We aimed to study the effects of an anti-gravity treadmill (AlterG) training on balance and postural stability in children with cerebral palsy (CP). AlterG training was performed 3 days/week for 8 weeks, with up to 45 minutes of training per session. The subject was evaluated before and after the 8-week training. The effects of training on the balance and postural stability was evaluated based on the Romberg test that was performed by using a posturography device. The parameters quantifying Center-of-Pressure (CoP) were calculated using different analytical approaches including power spectral density and principal components analyses. All of the key parameters including the Stabilogram, the Fast Fourier Transform (FFT) Energy, the Eigenvectors, and the Eigenvalues of CoP were modified between 14%-84%. The results indicated that the balance features were improved substantially after training. The clinical implication is that the AlterG has the potential to effectively improve postural stability in children with cerebral palsy.

Is the Bayley Scales of Infant and Toddler Developmental Screening Test, Valid and Reliable for Persian Speaking Children?

Background Advances in perinatal and neonatal care have substantially improved the survival of at-risk infants over the past two decades. Objectives The purpose of this study was to assess the reliability and validity of the Bayley Scales of infant and toddler developmental Screening test in Persian-speaking children. Methods This was a cross-sectional prospective study of 403 children aged 1 - 42-months. The Bayley scales screening instrument, which consists of five domains (cognitive, receptive, and expressive communication and fine and gross motor items), was used to measure infants’ and toddlers’ development. The psychometric properties examined included the face and content validity of the scale, in addition to cultural and linguistic modifications to the scale and its test-retest and inter-rater reliability. Results An expert team changed some of the test items relating to cultural and linguistic issues. In almost all the age groups, cultural or linguistic changes were made to items in the communication domains. According to Cronbach’s alpha for internal consistency, the reliability of the cognitive scale was r = 0.79, and the reliability of the receptive scale was r = 0.76. The reliability for expressive communication, fine motor, and gross motor scales was r = 0.81, r = 0.80, and r = 0.81, respectively. The construct validity of the tests was confirmed using a factor analysis and comparison of the mean scores of the age groups. The intra- and inter-rater reliabilities of the Bayley Scales were good-to-excellent. Conclusions The results indicated that the Bayley Scales had a high level of reliability in the present study. Thus, the scale can be used in a Persian population.