Molecular Genetics of Cleidocranial Dysplasia.

BACKGROUND: Cleidocranial dysplasia (CCD) is a genetic disorder with an autosomal dominant inheritance pattern. CCD characterized by abnormal clavicles, patent sutures and fontenelles, supernumerary teeth and short stature. Approximately 60-70% of CCD patients have mutations in the RUNX2 gene. The RUNX2 gene is an essential transcription factor for chondrocyte maturation, osteoblast differentiation and bone formation. Runx2 regulates mesenchymal cell proliferation in sutures and suture closure by inducing the signaling pathways of the genes of Fgf, Pthlh, hedgehog and Wnt. Material and Methods: We summarized molecular genetics aspects of CCD. Result: Approximately 94% of CCD patients have dental anomalies, the most common of which are supernumerary tooth. Dental anomalies are not determined solely by gene mutations of RUNX2, but are also affected by modifier genes, environmental factors, epigenetic factors and copy number variations. Conclusion: a definite diagnosis of CCD should include the patient's clinical history, symptoms and signs, as well as genetic analyses.

CRISPR-based biosensing systems: a way to rapidly diagnose COVID-19.

The outbreak of the emerging SARS-CoV-2 virus has highlighted the challenges of detecting viral infections, especially in resource-limited settings. The SARS-CoV-2 virus transmission chain is interrupted when screening and diagnosis can be performed on a large scale by identifying asymptomatic or moderately symptomatic patients. Diagnosis of COVID-19 with reverse transcription polymerase chain reaction (RT-PCR) has been limited due to inadequate access to complex, expensive equipment and reagents, which has impeded efforts to reduce the spread of virus transmission. Recently, the development of several diagnostic platforms based on the CRISPR-Cas system has reduced the dependence on RT-PCR. The first CRISPR-based diagnostic test for SARS-CoV-2 was recently approved by the U.S. Food and Drug Administration. The biosensing systems have several important features that make them suitable for point-of-care tests, including the speed of design and synthesis of each platform in less than a few days, an assay time of 1-2 h, and the cost of materials and reagents less than one dollar per test. The HUDSON-SHERLOCK and STOPCovid biosensing systems, as field-deployable and rapid diagnostic tests, can detect low-copy viruses in body fluids without nucleic acid extraction and with minimal equipment. In addition, Cas13-based treatment strategies could potentially be an effective antiviral strategy for the prevention and treatment of emerging pandemic viruses such as SARS-CoV-2. In this review, we describe recent advances in CRISPR-based diagnostic platforms with an emphasis on their use in the rapid diagnosis and potential treatment of COVID-19.

Epidemiology of dermatophytosis in northeastern Iran; A subtropical region.

BACKGROUND AND PURPOSE: Dermatophytes as the causative agents of dermatophytosis (ringworm) are widely spread around the world. Accurate identification of dermatophytes in one area can be particularly important for epidemiological studies. Regarding this, the aim of the present study was to describe the species spectrum of dermatophytes, isolated from patients in Mashhad city, Iran, using the molecular-based method. MATERIALS AND METHODS: This study was conducted on 79 dermatophyte isolates obtained from the human skin, hair, and nail specimens. Species identification was performed by the polymerase chain reaction-restriction fragment length polymorphism analysis of ribosomal DNA internal transcribed spacer regions using MvaI restriction enzyme. RESULTS: The identified species included Trichophyton mentagrophytes/T. interdigitale species complex (n=37, 46.8%), Epidermophyton floccosum (n=12, 15.2%), T. rubrum (n=8, 10.1%), Microsporum canis (n=8, 10.1%), T. violaceum (n=5, 6.3%), T. tonsurans (n=4, 5.1%), Nannizzia gypsea (n=3, 3.8%), T. benhamiae (n=1, 1.3%), and T. verrucosum (n=1, 1.3%). The clinical forms of infection were tinea corporis (n=26, 32.8%), tinea cruris (n=22, 27.8%), tinea capitis (n=10, 12.6%), tinea unguium (n=7, 9%), tinea manuum (n=6, 8%), tinea pedis (n=5, 6.3%), and tinea faciei (n=3, 3.5%). CONCLUSION: As the findings indicated, T. mentagrophytes/T. interdigitale species complex had the highest prevalence, and T. benhamiae appeared to be a new emerging agent of dermatophytosis in Mashhad, northeastern Iran.

A Systematic Review and Meta-analysis on the Effect of Herbal Medicine to Manage Sleep Dysfunction in Peri- and Postmenopause.

OBJECTIVES: Some conventional medications used to treat insomnia, such as benzodiazepine, non-benzodiazepine, and hormone therapy, are associated with side effects. Therefore, there is a growing interest in the use of herbal medicine. The aim of this systematic review is to assess the effects herbal medicines have on sleep disorders of peri- and postmenopausal women. METHODS: Three databases were searched including MEDLINE, Scopus, and the Cochrane Library from inception to March 2018. RESULTS: Six trials assessed the effect of soy on sleep disorders. Forrest plot for 2 studies showed that the standardized mean difference (SMD) of the sleep problems was lower in the soy group than the placebo group (SMD = -0.996; P < 0.001; 95% confidence interval, -1.42 to -0.563). Three trials showed soy had no significant effect on sleep disorders and one study showed a positive effect on sleep disorders. Accordingly, it is difficult to reach a definite conclusion regarding the effects of soy on sleep disorders based on these findings. According to a trial, significant beneficial effect associated with taking Schisandra chinensis. Findings suggested that some herbal medicines like red clover, lavender combined with bitter orange and pin bark extract had attenuating effects on sleep disorders. After intake of 530 mg of valerian twice a day for one month, statistically significant effects were observed regarding the quality of sleep of postmenopausal women. CONCLUSIONS: The present systematic review and meta-analysis found inadequate evidence to draw conclusions regarding the effectiveness of herbal medications, especially soy.

Effect of Fennel on the Health Status of Menopausal Women: A Systematic and Meta-analysis.

OBJECTIVES: The aim of the present study is the systematic and critical investigation of the effectiveness of fennel on the climacteric symptoms among menopausal females. METHODS: A search of the trials studying the effect of fennel on menopausal females was conducted in 2017 using the MEDLINE and Scopus databases and the Cochrane Library with the following keywords: fennel, Foeniculum vulgare, and menopause. RESULTS: Fennel combined with officinalis is more effective in the attenuating of sleep disorders compared to Citalopram. The comparison of these two groups regarding the mean bone mineral density and bone mineral content (P = 0.14, P = 0.504); the total hip femoral (P = 0.42, P = 0.66); the trochanter (P = 0.075, P = 0.07); the intertrochanter (P = 0.84, P = 0.93); and the femoral neck (P = 0.43, P = 0.64) did not show any significant statistical differences; however, a statistically significant difference regarding the vasomotor symptoms (P < 0.01) was found. The other significant differences are related to the values of the total cholesterol (P = 0.103); low-density lipoprotein cholesterol, or LDL-C (P = 0.104); high-density lipoprotein cholesterol, or HDL-C (P = 0.266); triglyceride (P = 0.679); body weight (P = 0.212); body mass index (P = 0.041); waist and hip circumferences (P = 0.365); and fat distribution (P = 0.337) between the two groups. The standardized mean difference (SMD) values of sexual activity (SMD = 0.638; P < 0.001), and maturation value (SMD = 0.601; P = 0.003) are highly significant among the fennel-treated women compared with the placebo group. CONCLUSIONS: According to the findings of the present study, fennel is important in the relieving of vasomotor symptoms, vaginal itching, dryness, dyspareunia, sexual function, sexual satisfaction, and sleep distribution.

The effect of a vaginal suppository formulation of dill (Anethum graveolens) in comparison to clotrimazole vaginal tablet on the treatment of vulvovaginal candidiasis.

The goal of this study was to compare the effect of Anethum graveolens (dill) vaginal suppositories and 100 mg clotrimazole vaginal tablets on vulvovaginal Candidiasis. This study was a single centre, single-blind, randomised, placebo-controlled trial, in which 60 women with microbiology-confirmed vulvovaginal candidiasis were randomly assigned to dill and clotrimazole groups. At the end of the study, the estimated prevalence of leucorrhoea, burning, and itching was 23%, 23% and 20% in dill users, respectively. This figure was 20%, 10% and 16.7% for the clotrimazole group, respectively. The difference between the two groups was not significant. 13% of suppository patients, compared with 10% of clotrimazole-treatment patients, had a positive culture, which was not significant (p = .68). According to findings, 2% dill vaginal suppositories were as effective as clotrimazole vaginal tablets in reducing both clinical and microbiological symptoms of Candidiasis. Studies with larger sample sizes are required to confirm current findings. Impact statement What is already known on the subject? Based on results from in vivo and in vitro animal studies, dill (Anethum graveolens) has anti-candida activity. What do the results of this study add? It appears that 2% dill vaginal suppositories were as effective as 100 mg clotrimazole vaginal tablets in reducing both the clinical and microbiological symptoms. What are the implications of these findings for clinical practice and further research? Obstetricians and gynaecologists can offer dill as a useful alternative to chemical drugs, especially in women who are often interested in herbal medicine, or in women who are resistant or are not allowed to use antifungal drugs.

The Beneficial and Adverse Effects of Raloxifene in Menopausal Women: A Mini Review.

OBJECTIVES: The present mini review aimed to summarize the existing knowledge regarding the beneficial and adverse effects of raloxifene in menopausal women. METHODS: This study is a review of relevant publications about the effects of raloxifene on sleep disorder, depression, venous thromboembolism, the plasma concentration of lipoprotein, breast cancer, and cognitive function among menopausal women. RESULTS: Raloxifene showed no significant effect on depression and sleep disorder. Verbal memory improved with administration of 60 mg/day of raloxifene while a mild cognitive impairment risk reduction by 33% was observed with administration of 120 mg/day of raloxifene. Raloxifene was associated with a 50% decrease in the need for prolapse surgery. The result of a meta-analysis showed a significant decline in the plasma concentration of lipoprotein in the raloxifene group compared to placebo (standardized mean difference, -0.43; 10 trials). A network meta-analysis showed that raloxifene significantly decreased the risk of breast cancer (relative risk, 0.572; 95% confidence interval, 0.327-0.881; P = 0.01). In terms of adverse effects of raloxifene, the odds ratio (OR) was observed to be 1.54 (P = 0.006), indicating 54% increase in the risk of deep vein thrombosis (DVT) while the OR for pulmonary embolism (PE) was 1.05, suggesting a 91% increase in the risk of PE alone (P = 0.03). CONCLUSIONS: Raloxifene had no significant effect on depression and sleep disorder but decreased the concentration of lipoprotein. Raloxifene administration was associated with an increased risk of DVT and PE and a decreased risk of breast cancer and pelvic organ prolapse in postmenopausal women.

Effects of flaxseed and Hypericum perforatum on hot flash, vaginal atrophy and estrogen-dependent cancers in menopausal women: a systematic review and meta-analysis.

OBJECTIVE: In this study, we aimed at evaluation of the efficacy of Hypericum perforatum and flaxseed on hot flash, vaginal atrophy and estrogen-dependent cancers in menopausal women. MATERIALS AND METHODS: We searched MEDLINE, Scopus, and the Cochrane Central Register of Controlled Trials (RCT) to explore trials that assessed the effectiveness of H. perforatum and flaxseed on hot flash, vaginal atrophy and estrogen-dependent cancers. In this regard, the following terms were used "menopause AND H. perforatum OR flaxseed OR Linum usitatissimum. Only randomized controlled trials were included in the study. RESULTS: Nine RCTs were included in this systematic review. Based on the literature, flaxseed showed beneficial effect on hot flash frequency and intensity, which was not statistically significant. According to two trials, flaxseed showed estrogenic effects; however, no conclusion regarding cancer promoting or protecting effects can be made. The evidence of the efficacy of the flaxseed on alleviating vaginal atrophy was also limited due to inconsistent findings in this regard. One trial declared that Vitex agnus-castus and H. perforatum showed comparable decrease in the frequency of hot flashes. CONCLUSION: The results of our systematic review suggest beneficial effect on vasomotor symptom with both of flaxseed and H. perforatum. Consistent conclusion regarding estrogen-dependent cancers and maturation value is limited due to small number of trials related to flaxseed. Further trials are still needed to confirm the results of our systematic review.