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1.
BMC Med Genomics ; 16(1): 256, 2023 10 23.
Article in English | MEDLINE | ID: mdl-37872553

ABSTRACT

Ichthyoses are a heterogeneous group of cornification disorders. The most common form of ichthyoses is ichthyosis vulgaris (IV) ([OMIM] #146,700), which can be inherited as autosomal semi-dominant mutation in the filaggrin gene (FLG). We present the findings of a study involving 35 Saudi patients with a clinical diagnosis of ichthyosis vulgaris. For identifying the pathogenic mutation of their disease, we used Sanger sequencing analysis of the extracted DNA samples. We also identified the underlying 22 FLG variants, which have been seen before. However, the detected mutations do not involve the common p.R501* c. 2282del4 mutations reported in European populations. Indeed, we did not identify any statistical influence of the homozygous or heterozygous genotypes on the phenotype severity of the disease.


Subject(s)
Dermatitis, Atopic , Ichthyosis Vulgaris , Humans , Dermatitis, Atopic/genetics , Filaggrin Proteins , Genetic Predisposition to Disease , Ichthyosis Vulgaris/genetics , Intermediate Filament Proteins/genetics , Mutation , Saudi Arabia
2.
Saudi Med J ; 42(7): 793-797, 2021 Jul.
Article in English | MEDLINE | ID: mdl-34187925

ABSTRACT

OBJECTIVES: To assess the sex hormone levels in young Saudi female migraineurs during a migraine attack and during pain-free periods and compare them with control subjects. METHODS: A case-control study involving 14 Saudi female migraineurs and 21 control subjects was conducted between December 2019 and March 2020. Demographic and disease history data were collected through participant interviews. Blood samples were drawn during the migraine attack and pain-free periods. RESULTS: Follicular (30.00±19.60; p<0.001) and luteal (39.79±11.45; p=0.037) estrogen levels were significantly higher in patients with non-menstrual related migraine (NMM), while luteal testosterone levels (1.10±0.31; p=0.023) were significantly higher in patients with menstrually related migraine (MM). Body mass index (BMI) was higher in patients with NMM (25.77±6.53; p=0.013), and it was found to be associated with follicular estrogen (p=0.016), progesterone (p=0.018), and pain intensity (p=0.042). Luteal estrogen level was significantly lower (13.96±7.88; p=0.036) in patients with luteal onset of attack. CONCLUSION: High estrogen levels were found to mediate NMM, their effect being more pronounced with increase in BMI; whereas low luteal estrogen levels mediated MM. Young females with MM might have high luteal testosterone levels, and a compensatory protective role could be surmised accordingly.


Subject(s)
Migraine Disorders , Progesterone , Case-Control Studies , Female , Gonadal Steroid Hormones , Humans , Migraine Disorders/epidemiology , Saudi Arabia/epidemiology
3.
Anc Sci Life ; 28(4): 10-2, 2009 Apr.
Article in English | MEDLINE | ID: mdl-22557325

ABSTRACT

Leptadenia reticulata of Asclepidaceae family is a shrub, originally property of Petroleum ether, Alcohol & Chloroform extract of L. reticulata. The antimicrobial testing was carried out by "Disc diffusion method". Amongst the tested three extracts, chloroform extract showed high antimicrobial activity against E. coli, alcoholic extract showed high antibacterial activity against Pseudomonas aeruginosa, while Petroleum ether extract showed antibacterial activity against Klebsilla pneumonae.

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