Effectiveness of nanosilver fluoride and silver diamine fluoride in arresting early childhood caries: a randomized controlled clinical trial.

BACKGROUND: One of the most prevalent health problems affecting children worldwide is untreated caries in primary teeth. Agents to arrest caries are used to manage untreated decay in children in disadvantaged communities. Nano Silver Fluoride (NSF) overcomes the staining problems of Silver Diamine Fluoride (SDF). This study compared the clinical cariostatic effect of NSF to 38% SDF for arresting caries lesions. METHODS: The study included 360 children younger than 4 years, with at least one active lesion, ICDAS score ≥ 3, recruited from nurseries in a rural area in Alexandria, Egypt, in 2022. They were randomly assigned to receive a single application of NSF at baseline, or two applications of SDF at baseline and after 6 months. The arrest of active carious lesions was assessed after 6 and 12 months using ICDAS criteria, and parents' satisfaction with child appearance was also assessed. Chi-Square test was used to compare the groups and multi-level multiple logistic regression was used to assess the effect of the intervention on caries arrest at lesion level and binary logistic regression was used to assess the effect at patient level. RESULTS: 1853 active lesions were included in children whose mean (SD) age was 42.3 (8.2) months. The arrest rate was significantly higher in the NSF than the SDF group at lesion level (78.4% and 65.0% at 6 months and 71.3% and 56.3% at 12 months, p < 0.001). In regression analysis, NSF had significantly higher odds of caries arrest than SDF at lesion level (at 6 months, AOR = 2.57, 95% CI: 1.55, 4.26 and at 12 month, AOR = 3.27, 95% CI: 1.89, 5.67). Parents of children receiving NSF had significantly greater satisfaction with their children's dental appearance than those receiving SDF: (97.2% and 76.1%, respectively, p < 0.001). CONCLUSION: NSF demonstrated greater effectiveness in arresting caries in preschool children without inducing black staining of teeth and with greater parental satisfaction than SDF. NSF can be an alternative to SDF in arresting caries especially in underprivileged communities. TRIAL REGISTRATION: The trial was registered in the clinicaltrials.gov registry (#NCT05255913)-16/02/2022.

Preventive potential of nano silver fluoride versus sodium fluoride varnish on enamel caries like lesions in primary teeth: in vitro study.

BACKGROUND: Professionally applied topical fluoride preparations have been commonly used and have proven to prevent dental decay. Alternative preparations that provide further benefits may be of interest to investigate. This study aimed to investigate the effect of experimental nano silver fluoride (NSF) formulation compared to commercial sodium fluoride varnish (FV) on prevention of in vitro demineralization of initially sound enamel in primary teeth. METHODS: Forty-eight extracted/exfoliated sound molars were sectioned buccolingually into 96 specimens then assigned randomly into two equal groups. Each group was further subdivided into two equal subgroups (Ia: NSF, IIa: FV, Ib and IIb as negative controls). The test materials were applied, then all the specimens were subjected to a demineralization pH cycling model for 7 days. Specimens were examined for surface microhardness using Vickers microhardness device and lesion depth was evaluated by polarized light microscope using image J 1.46r software. Data were analyzed using paired t-test, independent t-test, and Mann Whitney U test. RESULTS: The test materials were significantly superior to their negative controls, (P < 0.001) and comparable to each other, (P > 0.05) regarding microhardness and lesion depth. In comparison to FV, NSF showed lower yet statistically insignificant percent increase in microhardness and decrease in lesion depth, (P = 0.81, 0.86, respectively). Qualitative evaluation revealed that both agents reduced the lesion depth formation. CONCLUSION: NSF showed similar effect to that of FV in limiting in vitro enamel demineralization caused by acidic challenge. Hence, it could be regarded as a promising alternative preventive agent in primary teeth.

Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.

Micro and Martsolf syndromes are rare clinically and genetically overlapping disorders caused by mutations in RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. We describe 34 new patients, 27 with Micro and seven with Martsolf. Patients presented with the characteristic clinical manifestations of the two syndromes, including postnatal microcephaly, congenital cataracts, microphthalmia, optic atrophy, spasticity and intellectual disability. Brain imaging showed in the majority of cases polymicrogyria, thin corpus callosum, cortical atrophy, and white matter dysmyelination. Unusual additional findings were pectus excavatum (four patients), pectus carinatum (three patients), congenital heart disease (three patients) and bilateral calcification in basal ganglia (one patient). Mutational analysis of RAB3GAP1 and RAB3GAP2 revealed 21 mutations, including 14 novel variants. RAB3GAP1 mutations were identified in 22 patients with Micro, including a deletion of the entire gene in one patient. On the other hand, RAB3GAP2 mutations were identified in two patients with Micro and all Martsolf patients. Moreover, exome sequencing unraveled a TBC1D20 mutation in an additional family with Micro syndrome. Our results expand the phenotypic and mutational spectrum associated with Micro and Martsolf syndromes. Due to the overlapped severities and genetic basis of both syndromes, we suggest to be comprehended as one entity "Micro/Martsolf spectrum" or "RAB18 deficiency."

Postmortem clinical examination by experienced clinical geneticists as an alternative to conventional autopsy for assessment of fetal and perinatal deaths in countries with limited resources.

The aim of this study was to investigate the usefulness of postmortem external examination performed by an experienced clinical geneticist as an alternative to autopsy in countries with limited resources. We studied a consecutive cohort of couples seeking genetic counseling for fetal loss or perinatal death over a period of 3 years. The study involved 230 couples; only 57 of them submitted a fetus or dead neonate, for whom a meticulous postmortem clinical examination was performed by an experienced clinical geneticist. The diagnosis rate for the group of cases subjected to postmortem examination (57.9%) was much higher than that of the group that comprised cases for which diagnosis was made through evaluation of medical records (27.2%). Whenever fetal or neonatal autopsy is refused or is not feasible, a comprehensive fetal or perinatal postmortem external examination by an experienced clinical geneticist may be a reasonable substitute.

Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss.

BACKGROUND & AIM: Hearing loss is the most frequent form of neurosensory deficit in humans. Although the majority of hereditary hearing loss is due to nuclear gene mutations, it has become clear the significant contribution of mitochondrial genes. The first mitochondrial mutation shown to cause non-syndromic hearing loss in humans was the A1555G mutation in the small ribosomal RNA gene (12S rRNA). It has been detected in hundreds of families of different ethnic backgrounds, making it one of the prevalent genetic causes of hearing loss currently identified. However, there are major differences between ethnic groups regarding the frequency of this mutation. Few studies have been made in Arab countries, especially in Egypt. Here we report the prevalence of the mitochondrial mutation A1555G among patients with non-syndromic hearing loss (NSHL) and in healthy individuals with normal hearing in the Egyptian population. SUBJECTS & METHODS: The study was conducted on 97 patients with SNHL and 300 unrelated healthy Egyptian individuals, with normal hearing, as normal control subjects. Polymerase chain reaction followed by restriction enzyme digestion was used to screen the DNA samples of all subjects for the A1555G mutation. RESULTS: Participants included 97 cases with SNHL, 46 males and 51 females. Their ages ranged from 1 month to 65 years with the mean age 6.2 years (SD ± 8.2). Paternal consanguinity was reported in 46% (35/76) of the studied families. The A1555G mutation was found in one of the 97 patients (1.3%), while it has not been detected in the 300 control samples. CONCLUSION: Our findings indicate that, even in absence of exposure to aminoglycosides, the mitochondrial A1555G mutation is one of the potential causes of non-syndromic SNHL in the Egyptian population.

Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms with the risk of breast cancer: a case-control study in Egypt.

UNLABELLED: Various DNA damage, induced by endogenous and exogenous factors, is handled through DNA repair pathways such as X-ray repair cross-complementing protein (XRCC). Genetic variations in these pathways may have a joint or additive effect on various types of cancer, including the risk of breast cancer (BC). AIM: To evaluate the association of three single-nucleotide polymorphisms (SNPs) Arg399Gln, Arg194Trp, and Thr241Met in DNA repair genes XRCC1 and XRCC3 on the risk of BC, and to assess their interaction with risk factors and prognostic markers in a case-control study in Egypt. METHODS: We detected the studied SNPs using polymerase chain reaction-restriction enzyme polymorphism (PCR-RFLP) in peripheral blood from 100 BC patients and 75 healthy females. RESULTS: The dominant model of inheritance of Arg399Gln and Arg194Thr revealed an increase in BC risk of odds ratio (OR) of 3.56, 95% confidence interval (CI)=1.22-10.39, p=0.017 and OR: 4.45, 95% CI=2.35-8.45, p<0.001 respectively. However, there was no clear interaction between the studied SNPs and the known risk factors, or tumor criteria. No association between the Thr241Met genotype and BC risk was observed. CONCLUSION: XRCC1 Arg399Gln and Arg164Trp variant genotypes are associated with an increased risk of BC in Egyptian females.