M Al-Bloushi

Kuwait University, Kuwait, Muhafazat al `Asimah, Kuwait

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Publications (5)9.7 Total impact

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    ABSTRACT: The congenital muscular dystrophies are autosomal recessive disorders with different clinical phenotypes, the spectrum of which varies between different ethnic communities. We report our findings in 21 Arab children with congenital muscular dystrophy. All 21 cases were of the pure type, with normal mental status, except 1 case with perinatal hypoxic-ischemic insult. Fourteen were laminin alpha2 (merosin) deficient, and six were laminin alpha2 positive; laminin alpha2 status was not determined in one patient. None of the laminin alpha2-deficient patients achieved independent ambulation, whereas three of the laminin alpha2-positive patients were able to walk. The elevated levels of serum creatine kinase did not differentiate the two groups and tended to decrease after the age of 5 years. Radiologic evaluation demonstrated an abnormal central white-matter signal in 11 of 13 laminin alpha2-deficient and in 1 of 5 laminin alpha2-positive patients; none had evidence of brain dysplasia. Nerve conduction velocities were normal in 5 of 5 laminin alpha2-positive patients, whereas in the laminin alpha2-deficient patients, it was slow in 9 of 11 for the motor nerves and normal in 8 of 9 for the sensory nerve. Two of the laminin alpha2-positive patients had pseudohypertrophy of the calves, and two of the laminin alpha2-deficient ones had seizures. The patient in whom the laminin alpha2 status was not determined had a severe course, an abnormal central white-matter signal, and epilepsy and resembled more the laminin alpha2-deficient group.
    Journal of Child Neurology 06/2006; 21(5):400-5. · 1.39 Impact Factor
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    ABSTRACT: Idiopathic generalized epilepsies (IGEs) are the most common types of epilepsy in childhood and adolescence. A variety of data suggest that IGEs have a predominant genetic etiology. Recently, a number of gene mutations have been found to be associated with various types of epilepsy in mainly the Caucasian populations. The objective of this study was to investigate the association of three different candidate genes with IGE in Kuwaiti Arab children. This study includes 123 Kuwaiti patients with a confirmed diagnosis of epilepsy. Most of the patients have had a diagnostic EEG with generalized spike-wave discharges (GSWs). All patients were evaluated by using a validated seizure questionnaire. The clinical type of epilepsy was determined by a trained neurologist/pediatrician. The study also include 100 controls, the control subjects were children which did not have any history of neurological disorders. Blood samples were collected from all patients and control subjects after taking informed consent. DNA was isolated and analyzed by molecular methods. A FokI polymorphism in neuronal nicotinic acetylcholine receptor alpha-4 subunit (CHRNA4) gene was detected by PCR-RFLP method. A missense mutation (Ser248Phe) in CHRNA4 gene was analyzed by PCR-RFLP using HpaII. A C121W mutation in sodium-channel beta-1 subunit (SCN1B) gene was screened by a PCR-RFLP method using HinPI. A 2-bp deletion in Cystatin B gene was detected by PCR-RFLP using XcmI. The incidence of three FokI polymorphism genotypes in Kuwaiti IGE patients was 1,1 (85%), 1,2 (14%) and 2,2 (1%) respectively. The missense mutation Ser248Phe of CHRNA4 gene was not detected at all in Kuwaiti IGE patients. The C387G transversion resulting in C121W change in third exon of the SCN1B gene was detected in 3/123 patients (2%). The patients carrying this mutation also exhibited febrile seizures. The incidence of 2 bp deletion in the cystatin B gene was found to be 4% (5/123 IGE patients). The data obtained from molecular analysis show a lack of association between three candidate genes and clinical expression of IGE in Kuwaiti Arab children. This is completely different from the findings reported from Caucasian populations of France, Australia and USA in which case a strong association has been reported between IGE and these genes.
    Journal of Biomedical Science 11/2005; 12(5):815-8. · 2.46 Impact Factor
  • E S Al-Jumah, Y K Habeeb, M A Al-Bloushi, A Moosa
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    ABSTRACT: To describe the characteristic clinical features and the diagnostic findings in muscle histochemistry of multi-minicore disease in 5 children from two unrelated families in Kuwait. The 5 children who presented with muscle weakness, 2 siblings from family 1 and the remaining 3 from the other (family 2), represent the classical type of multi-minicore disease; however, the two families differ in the course of the disease. Family 1 had the non-progressive form while family 2 had progressive weakness with respiratory complications and scoliosis. The diagnosis was confirmed in the index patients by muscle histochemistry, which demonstrated the typical minicores, which are devoid of oxidative enzyme activity. Both families represent the classical form, however, clinical variability in the course of the illness was demonstrated in these two families.
    Medical Principles and Practice 01/2005; 14(5):349-53. · 0.96 Impact Factor
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    ABSTRACT: Overt stroke is rare among sickle cell disease (SCD) patients in Kuwait. However, there are no previous studies of silent cerebral infarcts, which have been described in up to 20% of American children with Hb SS. We have carried out a prospective brain MRI study among otherwise normal SCD patients, who were consecutive patients seen in a 1-year period to document the prevalence of silent cerebral infarcts in children with sickle cell disease in Kuwait. Any patient with a previous seizure or other neurological abnormality was excluded. MRI was done with a 1.5 Tesla unit with super-conducting magnet. T1- and T2-weighted sagittal and axial sections and proton density axial images were obtained in 5-mm thick sections. The study group consisted of 30 (23 SS and 7 Sbeta(0)Thal) patients-19 males and 11 females-whose ages ranged from 6 to 17 (mean of 9.8 +/- 3.5) years. Hb F ranged from 11% to 35% with a mean of 22.8% +/- 5.7%. Only one patient, a 10-and-a-half-year-old boy with Hb SS, showed hyperintense signals in the parietal white matter, consistent with small infarcts, thus giving a prevalence of 3.3%. Silent brain infarcts are uncommon in our patients, and the protective factors remain to be fully elucidated.
    American Journal of Hematology 08/2002; 70(3):228-31. · 4.00 Impact Factor
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    ABSTRACT: Avascular necrosis (AVN) of the hip is a common cause of morbidity in sickle cell disease (SCD). Its prevalence increases with age and predisposing factors include coexistent alpha-thalassemia trait, frequent vaso-occlusive crisis and a high hematocrit (Hct). SCD is relatively mild among Kuwaiti patients because of their elevated Hb F levels, but a subset exists with severe recurrent vaso-occlusive crises. We carried out a prospective magnetic resonance imaging (MRI) study of the hip in a group of patients being followed in the Pediatric Hematology clinics of Al-Mubarak and Al-Amiri Hospitals. The association of AVN with age, frequency of hospitalization, alpha-thal trait, steady-state Hb, Hct, Hb F, WBC and platelet counts was investigated. MRI was carried out with a 1.5-tesla GE unit with a super-conducting magnet. Thirty patients (19 males, 11 females) (23 SS and 7 SbetaThal) were studied. Their ages ranged from 6 to 17 years, with a mean of 9.8 +/- 3.5 years, and Hb F from 11 to 35% with a mean of 22.8 +/- 5.7%. Among the SS patients, 11 (47.8%) had coexistent alpha-thal trait (-3.7-kb deletion). A total of 8 (26.7%) patients (6 SS and 2 SbetaThal) had varying degrees of osteonecrosis of the hip. Four (36.4%) of the 11 SS patients with alpha-thal trait and 2 (16.7%) of those without alpha-thal trait had osteonecrosis. This difference is, however, not statistically significant (chi(2) = 0.3, p = 0.5). While there was also no significant difference in the mean age and hematological parameters (Hb, Hct, Hb F, WBC, platelets), the SS patients with osteonecrosis had a significantly higher number of hospitalizations for vaso-occlusive crisis in the preceding 3 years than those without osteonecrosis.
    Acta Haematologica 02/2001; 105(1):27-31. · 0.89 Impact Factor