Meningitis is the major cause of morbidity and mortality among infants and children below the age of five years. Meningitis might be caused by infection with viruses, bacteria, fungi or parasites. Haemophilus influenzae represents one of the causing agents of meningitis in children. During 2010, 400 Cerebrospinal fluid (CSF) specimens were collected from children less than 5 years, which clinically diagnosed with meningitis, in several hospitals of Iraq. Microbiological, biochemical and PCR techniques were used for identification and typing of Haemophilus influenzae isolates. Culturing CSF specimens revealed that 11(2.75%) isolates belonging to genus Haemophilus then these isolates were more identified as H. influenzae according to the biochemical properties. According to the biotyping assay, it was found that 55% of H. influenzae isolates were identified as biotype I, 18.2% biotyped as V and VII for each one, and 9% biotyped as II, whereas all isolates (100%) identified as serotype b using slide agglutination test. PCR analysis was used for detection of H. influenzae in 75 specimens of cultured and noncultured CSF which divided into four groups (confirmed, probable, suspected, and control) according to the clinical and laboratory criteria of meningitis. Three genes, ompP6, bexA, and bcs3, were selected to verify the existence of H. influenzae type b using triplex PCR. It was found that 23(30.7%) of 24 H. influenzae were belonged to H. influenzae type b; 11(14.7%) were culture positive -PCR positive while 12 (16%) were culture negative -PCR positive, and only 1(1.3%) had noncapsulated properties for H. influenzae. Moreover, 5(6%) of 23 H. influenzae type b were detected as capsule deficient mutants which had ability to cause meningitis. Furthermore, according to capsular genotypes, hcsA, was indicated that H. influenzae type b was distributed in two types, I and II, type I was predominant (78.3%) in children under 5 years old whereas type II infected only 5(21.7%) children less than 1year old. In conclusions, according to this study H. influenzae serotype b and biotype I was the most common types among children less than 5 years old diagnosed as meningitis in Iraqi children. H. influenzae can be identified directly from CSF by using different types of PCR techniques based on the amplification of cap genes which showed high sensitivity and specificity comparing with culture method.
Combined deficiency of vitamin K-dependent clotting factors is usually an acquired clinical problem, often resulting from liver disease, malabsorption or warfarin overdose. However, an inherited form of the disease is very rare. Here we report a 4-month-old girl who presented with a 2-week history of multiple bruises and a 1-day history of right thigh swelling after receiving her 4th month vaccine. Laboratory investigations showed anemia (Hb 6.0 g/dL) with extremely prolonged PT and APTT. Factor assay revealed deficiency of vitamin K-dependent clotting factors II, VII, IX, X as well as protein C and protein S. Whole-exome sequencing detected a novel homozygous mutation (c.44-5T>A p.(?)) in the γ-glutamyl carboxylase (GGCX) gene responsible for the autosomal recessive combined vitamin K-dependent clotting factors deficiency type 1.
<b><i>Background:</i></b> Sickle cell disease (SCD) is a prevalent hemoglobinopathy involving sickled hemoglobin that causes multiorgan disease due to chronic recurrent vaso-occlusion and hemolysis. Fetal hemoglobin (HbF) being present showed reduction in disease severity, owing to which hydroxyurea has gained significant recognition. The latter’s exact mechanism of action is yet unknown, but it has been demonstrated that the resulting rise in HbF raises hemoglobin levels and lessens the incidence of acute chest syndrome and vaso-occlusive crises. In the United Arab Emirates, our study is the first to assess the effects of hydroxyurea therapy in pediatric SCD patients. <b><i>Methods:</i></b> We conducted a retrospective cross-sectional study on 100 patients aged 2–13 years who were diagnosed with SCD, under regular outpatient follow-up with pediatric hematology clinic and receiving hydroxyurea therapy for at least 2 years. Basic hematologic parameters, frequency of SCD complications, and need for blood transfusions were studied. <b><i>Results:</i></b> Our analysis has shown a statistically significant (<i>p</i> < 0.05) correlation between hydroxyurea therapy and improved baseline hemoglobin and HbF levels; it decreased the incidence of painful crises and acute chest syndrome episodes; reduced the demand for blood transfusions; and recorded no side effects (pancytopenia or liver function disturbance). <b><i>Conclusions:</i></b> This study is the first of its kind in the UAE, and our findings support those of international data. The use of hydroxyurea therapy in SCD significantly improved hematologic and clinical parameters, thus markedly improving the patient’s quality of life. The side-effect profile is also limited, which further supports the fact that hydroxyurea is a relatively safe drug.
This case report describes a five years old Emirati boy, who had a history of convulsions (twice) at the age of two weeks, associated with reduced activity and excessive startling response. His investigation showed hypomagnesemia with normal calcium level, normal parathyroid hormone and no urinary loss of Magnesium (Mg). Mutations in the TRPM6 gene, a member of the transient receptor potential family of cation channels, was identified by the genetic study. This gene, located on chromosome 9, is expressed in the intestinal epithelium and renal cells. TRPM6 gene plays a crucial for magnesium homeostasis which is subsequently linked to the rare metabolic disorder; Familial hypomagnesemia with secondary hypocalcemia.
A 63 years old woman with history of diabetes and hypertension, presented for bone pain. Pelvic X Ray showed multiple osteoconsensant lesions of the iliac wings, the sacrum and the femurs (figure 1). CT scan objectified multiple hepatic metastases with a laterorectal mass (figure 2). Colonoscopy showed aspect of extrinsic compression. Endoscopic ultrasound objectified a rectal mucosal lesion of 5x3,5 centimeters appearing in contact with the prostate (figure 3). Histologically, hepatic biopsy confirmed a tumor proliferation that was made of two architectural aspects independent cells, and trabeculolobular classical endocrine architecture with expression of synaptophysin on immunochemistry
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