The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. However, several reports of non-syndromic/isolated tooth agenesis have also been found in the literature. The characteristic features of hypohidrotic ectodermal dysplasia (HED) comprise of hypodontia/oligodontia, along with hypohidrosis/anhidrosis, and hypotrichosis. Pathogenic variants in EDA, EDAR, EDARADD, and TRAF6, cause the phenotypic expression of HED. Genetic alterations in EDA and WNT10A cause particularly non-syndromic/isolated oligodontia. In the current project, we recruited 57 patients of 17 genetic pedigrees (A-Q) from different geographic regions of the world, including Pakistan, Egypt, Saudi Arabia, and Syria. The molecular investigation of different syndromic and non-syndromic dental conditions, including hypodontia, oligodontia, generalized odontodysplasia, and dental crowding was carried out by using exome and Sanger sequencing. We have identified a novel missense variant (c.311G>A; p.Arg104His) in WNT10A in three oligodontia patients of family A, two novel sequence variants (c.207delinsTT, p.Gly70Trpfs*25 and c.1300T>G; p.Try434Gly) in EDAR in three patients of family B and four patients of family C, respectively. To better understand the structural and functional consequences of missense variants in WNT10A and EDAR on the stability of the proteins, we have performed extensive molecular dynamic (MD) simulations. We have also identified three previously reported pathogenic variants (c.1076T>C; p.Met359Thr), (c.1133C>T; p.Thr378Met) and (c.594_595insC; Gly201Argfs*39) in EDA in family D (four patients), E (two patients) and F (one patient), correspondingly. Presently, our data explain the genetic cause of 18 syndromic and non-syndromic tooth agenesis patients in six autosomal recessive and X-linked pedigrees (A-F), which expand the mutational spectrum of these unique clinical manifestations.

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Schizophrenia is a serious mental disorder and general public usually show unfavorable attitudes towards the patients. Objective: The study assesses the extent of public knowledge about Schizophrenia, a mental illness, among Pakistan's educated population and to recommend ways to create a better society for the patients and caretakers. Methods: 500 participants voluntarily took part in the study. A questionnaire was developed and a cross-sectional survey was conducted among the respondents. Participants were asked questions related to general, medical, socioeconomic, and treatment information of schizophrenia. Data analysis was done using SPSS software via T/F tests and Chi-square analysis. Results: It was revealed that overall females were more aware of mental illness as compared to males. The age groups of 18-22, 23-27 and 33-37 and participants with graduate and post-graduate degrees were having more knowledge regarding general, medical, socioeconomic, and treatment categories. Upon analysis via chi-square using SPSS, null hypotheses were accepted. Conclusions: Despite of the people having knowledge regarding schizophrenia, there is a significant percentage of populace which is not aware. Seminars, workshops, and campaigns must be conducted to enhance the knowledge of the general public to put an end to this stigma from society which will help in giving better care to the patients.

Background: Mallotus Philippinensis belongs to the family Euphorbiaceae was broadly utilized in traditional medicines especially in the tropical areas. Mostly distributed in the Himalaya from Kashmir East wards besides tropical India. The plant contains high content of steroids, diterpenoids, triterpenoids, flavonoids, phenols, proteins, saponins, alkaloids and carbohydrates. The previous studies demonstrated that plant exerted significant pharmacological effects like anti-helminthics, antifilarial, antiparasitic, antiulcer, antifungal, antibacterial and immuno-regulatory properties, and as an aphrodisiac. Still antimicrobial activities from different solvent extracts of this plant needed to explore.Objective: The goal of the present investigation was to evaluate the phytochemical constituents, antibacterial, antifungal and antioxidant activity from the extract of plant Mallotus Philippinensis. Method: The ethanolic crude extract of plant was extracted by using maceration method. The resulting extracts were used to examined the antibacterial activity by disc diffusion method against some clinical strains (Bacillus, E. coli, S. aureus, Salmonella, Epidermites, E. facillus, Pseudomonas) and some ATCC strains (Bacillus, E. coli, S. aureus, K. pneumonia, Pseudomonas) and Phytoconstituents was also investigated for the presence or absence of various metabolites like proteins, carbohydrates, alkaloids , steroids flavonoids and saponin test. The DPPH method was used to determine the antioxidant activity. Results: The ethanol extract exhibit positive results for the inhibition of Bacillus, E. coli, S.aureus, Salmonella , Epidermites, E. facillus , Pseudomonas and also exhibit positive results for ATCC strains Bacillus , E.coli , S. aureus , K.pneumonia , Pseudomonas. The extract showed the presence of proteins, steroids, carbohydrates, alkaloids, flavonoids and saponin in the phytochemical screening. DPPH free radical scavenging activity assay disclosed the remarkable antioxidant activity of different parts of Mallotus Philippinensis ethanolic crude extracts. Conclusion: The findings of present project indicated that ethanolic extracts of Mallotus Philippinensis are sensitive against test bacteria. They also show antioxidant activity, and they contain rich number of phyto-constituents. In current study only crude extract was investigated for different curative effects against certain standard microbial strain. In future these extracts were considered after purification for development of various therapeutic agents.