Hemophilia Joint Health Score, Functional Independence Score in Hemophilia, and Pettersson Score in Pediatric Patients With Severe Hemophilia A.

Hemophilia is an X-linked recessive disorder. Children with hemophilia go through spontaneous and trauma-provoked bleeding. Recurring joint bleeds lead to ongoing incapacity. Achieving healthy joints is the primary target of hemophilia management. The current study objective was to assess hemophilic joints in individuals with hemophilic arthropathy clinically, radiographically, and functionally. This cross-sectional study included 50 children with severe hemophilia A who were selected from the pediatric hematology clinic. All children were assessed for Hemophilia Joint Health Score (HJHS). Joint assessed functionally by Functional Independence Score in Hemophilia (FISH) and radiologically by plain radiograph and scored by the Pettersson scoring system. Data were analyzed using Statistical Package for Social Sciences. The mean age of the studied cases of hemophilia was 8.5±3.1 years. The mean FISH score among the studied patients was 26.8±4.2, the mean HJHS was 16.8±12.8, and the Pettersson score was 4.9±2.7. The number of affected joints showed a significant negative correlation to the FISH score and a significant positive correlation to HJHS. The frequency of hemarthrosis/month showed a significant positive correlation to HJHS. The number of affected joints showed a significant negative correlation to the FISH score and a significant positive correlation to HJHS. Frequency of hemarthrosis/month showed a significant positive correlation to HJHS.

Stromal Derived Factor-1 Gene Polymorphism in Pediatric Immune Thrombocytopenia.

Immune thrombocytopenia (ITP) is a multifactorial disease in which both environmental and genetic factors have been implicated. The study aimed to investigate a possible association of single nucleotide polymorphisms (SNPs rs266085 and rs2839693) in the stromal derived factor-1 (SDF-1) gene and its association to ITP and effect on ITP severity and response to treatment. Genomic DNA was extracted from peripheral blood and polymorphism in SDF-1 gene rs266085 and rs2839693 was analyzed using PCR-restriction fragment length polymorphism technique in DNA extracted from 60 children with ITP together with 90 healthy controls. On analysis of SDF-1 rs266085 polymorphism, there was a high frequency of CC genotype in cases than controls and that difference was significant at codominant, overdominant, and dominant models (P<0.05). Furthermore, carriers of the CC genotype were more susceptible to severe ITP at onset, steroid dependency, and chronicity than carriers of other genotypes (P<0.05). Otherwise, no significant differences between ITP patients and controls as regard SDF-1 rs2839693 genotypes and alleles, and we did not find a relation between this polymorphism and ITP severity, steroid dependency, or duration. SDF-1 gene rs266085 SNP C allele is associated with susceptibility to develop ITP as well as increases the risk for severe ITP at onset, chronic ITP and steroid dependency.

Molecular characterization of Staphylococcus aureus isolated from hospital acquired sepsis in pediatrics, relation to antibiotics, resistance and virulence genes.

INTRODUCTION: The objective of this study was to determine the prevalence of antibiotic resistance genes mecA, vanA, B, C and virulence genes Panton-Valentine Leucocidin (PVL) and fibronectin-binding protein (fnBPA) among S. aureus isolates from hospital-acquired sepsis from pediatric intensive care units. METHODS: The study was a retrospective cross-sectional study, including 250 unique isolates of S. aureus obtained from pediatric patients with hospital-acquired sepsis. The isolates were subjected to study of antibiotic susceptibility by disc diffusion method and molecular analysis of antibiotic resistance genes and certain virulence genes (PVL and fnBPA genes). RESULTS: Methicillin resistant S. aureus represented 178 (71%) of the isolated S. aureus and reduced susceptibility to vancomycin was detected by minimum inhibitory concentration in 39 (22%) isolates. It was found that there was a strong association between the MRSA strains and resistance to some antibiotics, devices association (p<0.001) and patient outcomes (p=0.003). There was a significant association between reduced vancomycin susceptibility (p=0.010), the presence of a central line catheter (p=0.000) and fnBPA gene (p<0.001) and mortality rate. CONCLUSIONS: The present study highlights that major S. aureus strains isolated from sepsis in pediatric patients were methicillin resistant with a substantial proportion of reduced susceptibility to vancomycin. Although none of the isolates had van genes responsible for vancomycin resistance, this finding warrants a considerable attention for study as it was a risk factor for mortality in those patients. The virulence genes fibronectin-binding protein and Panton-Valentine Leucocidin were not uncommon in S. aureus.

Blastocystis spp. and Giardia intestinalis co-infection profile in children suffering from acute diarrhea.

Giardia intestinalis and Blastocystis spp. are two common zoonotic intestinal parasites responsible for the majority of diarrheic cases, especially in children. The study was planned to determine the impact role of both Giardia and Blastocystis co-infection in children up to 12 years old with acute diarrhea in Beni-Suef, Egypt. Also, to estimate the general prevalence rates and risk factors associated with intestinal parasitic infections. Stool samples collected from 125 children, within a period of 7 months, were examined using direct wet mount and trichrome stain in comparison to in vitro culture on Jones medium (for detecting Blastocystis spp.) and Immunochromatography techniques (for detecting Giardia). At least one type of intestinal parasites was harbored in 72% of the studied children, single infection constituted 37.6% while, 34.4% were polyparasitized children. The predominant parasites involved were Blastocystis spp.(53.6%), followed by Giardia intestinalis (27.2%). Co-infection between both parasites was recorded in 20% of cases. Two risk factors were significantly associated with higher risk of Giardia-Blastocystis co-infection including age category (5-7 years) and family size (≥ 6 members) by univariate analysis (P = 0.004, 0.009 respectively) and also by the multivariate model (OR = 0.526, 0.336). Abdominal pain was the only gastrointestinal manifestation associated with the co-infection using the univariate analysis (P = 0.0427). The present study detects a high prevalence of intestinal parasitic infection; in particular, Giardia-Blastocystis co-infection in diarrheic young children (up to 12 years) in Beni-Suef Governorate, Egypt and recommends further subtypes identification of both parasites.