Background: Schizophrenia (SCZ) is still a challenging, refractory, and severe disorder. It is not a fully understood disease with genetic and epigenetic susceptibility and about 80% substantial heritability. The CUB and Sushi multiple domains 1 (CSMD1) gene is implicated in neurogenesis, memory, immunity, neuropsychology, and monoamine metabolism. Thus, it is one of the powerful genes involved in the pathogenesis of SCZ. Purpose: To evaluate the possible role of the CSMD1 gene's mRNA expression and its serum protein as markers for the early diagnosis of the first-episode SCZ in familial high-risk (FHR) Egyptian children and young adults. Subjects and methods: This case−control study included 80 first-episode drug-nai ̈ve SCZ patients from FHR Egyptian children and young adults and 80 healthy participants, as controls, from the FHR-susceptible children and young adults but did not develop SCZ. In this study, the CSMD1 gene's mRNA expression and CSMD1 serum levels were measured in the peripheral blood, and these levels were correlated with the lipid profile of the study populations. Results: The CSMD1 gene's mRNA expression and its' protein levels were significantly decreased in the SCZ patients compared to controls. The receiver operating characteristic (ROC) curve analysis succeeded in distinguishing SCZ patients from those not having SCZ using cutoff points of ≤0.711 and ≤4.83 ng/mL for the CSMD1 gene's mRNA expression and serum protein level, respectively. At these levels, the diagnostic sensitivities were 93.75 and 91.25%; specificity was 92.5%; positive predictive value (PPV) were 92.6 and 92.4%; and negative predictive values (NPVs) were 93.7 and 91.4%, respectively. Also, the ROC curve analysis succeeded in discriminating those with suicidal tendencies. Conclusion: CSMD1 gene's mRNA expression might be a reliable and early diagnostic predictor of first-episode SCZ in the FHR Egyptian children and young adults.
Background: Acne vulgaris (AV) is a common inflammatory skin disease involving dysfunction of the pilosebaceous unit. Many mechanisms for the pathogenesis of acne have been postulated. However, the precise pathogenesis is still uncertain.Objective: This study aimed to measure serum calprotectin levels in AV and to correlate its level with the activity and severity of the disease. Patients and methods: A total of 80 subjects were subdivided into two groups; group I included 40 patients complaining of AV with different severity levels, and group II had 40 healthy age and sex-matched participants as a control group. Serum calprotectin level was measured in both groups by the enzyme-linked immunosorbent assay (ELISA) method. Results: Serum calprotectin concentration was statistically significantly (p=0.0001) higher in the patient group when compared to the controls. There was a statistically significant (p = 0.001) difference among subgroups of patients according to disease severity regarding serum calprotectin concentration. There was a high-significant positive correlation between serum calprotectin concentration and disease severity. Calprotectin concentration could be used to diagnose AV with cutoff points higher than 1.03 ng/ml (with 77.5% sensitivity, 80% specificity) and also can detect its severity with cutoff points higher than 1.1 ng/ml with 96.3% sensitivity, 100% specificity to differentiate the mild cases from moderate and severe ones. Conclusion: Serum calprotectin concentration represents a valuable tool for diagnosing the inflammatory nature and monitoring the disease activity in AV patients.
Attention-deficit
hyperactivity disorder (ADHD) has been proposed
to stem from multiple etiologies, perhaps genetic in nature with biological
and psychosocial motivates. Tryptophan hydroxylase 2 (TPH2) and Reelin (RELN) genes may play a key role in
triggering ADHD. The purpose of this case-controlled study was to
explore the linkage of the genetic variants of TPH2 and RELN genes with ADHD. One hundred Egyptian
children with ADHD and 105 age and sex matched controls constituted
the study samples. Genotyping was performed for TPH2 (rs11179027; rs1843809) and RELN (rs736707; rs362691)
gene polymorphisms using real time PCR assay. The alleles and genotype
frequencies of TPH2 and RELN gene
polymorphisms were assessed in all study participants. The frequencies
of the alleles of TPH2 rs11179027 (OR = 1.75, 95%
CI = 1.08–2.85, p = 0.022), TPH2 rs1843809 (OR = 3.67, 95% CI = 1.82–7.43, p = <0.001), and RELN rs736707 (OR = 1.61, 95%
CI = 1.03–2.51, p = 0.035) were significantly
associated with ADHD, while there was no significant difference between
ADHD patients and controls regarding the frequency of RELN rs362691 (OR = 1.34, 95% CI = 0.73–2.48, p = 0.34). The frequencies of CTAG, CTGG, CTAC, CTGC, and GTAC haplotypes
were significantly higher in ADHD patients than in controls (p = 0.011, 0.005, 0.015, 0.001, and 0.027, respectively).
In conclusion, TPH2 rs11179027, TPH2 rs1843809, and RELN rs736707 gene alleles and haplotypes
might be significantly correlated with the genetic susceptibility
to ADHD in Egyptian children.
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