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Congenital glaucoma, a complex and diverse condition, presents considerable difficulties in its identification and categorization. This research used Next Generation Sequencing (NGS) whole-exome data to create a categorization framework using machine learning methods. This study specifically investigated the effectiveness of decision tree, random forests, and support vector classification (SVC) algorithms in distinguishing different glaucoma genotypes. Proposed methodology used a range of genomic characteristics, such as percentage variation, PhyloP scores, and Grantham scores, to comprehensively understand the genetic pathways that contribute to the illness. This investigation showed that Decision Tree and Random Forest algorithms consistently performed better than earlier techniques in identifying congenital glaucoma subtypes. These algorithms demonstrated outstanding accuracy and resilience. The findings highlight the capacity of machine learning methods to reveal complex patterns in NGS data, therefore improving the proposed comprehension of the causes of congenital glaucoma. Moreover, the knowledge obtained from this research shows potential for enhancing the accuracy of diagnoses and developing tailored treatment approaches for afflicted people.

Background: The antibiotic resistance is on a rise globally due to irrational use. This survey evaluated the prescribing patterns of antibiotics in tertiary care hospital in Abbottabad. Study type, settings and duration: This observational, descriptive, and prospective study was carried out in divisions of Gynecology, General Medicine, Pediatric Surgery, Orthopedics and Pulmonology, Tertiary Care Hospital, Abbottabad, KPK from 2019 to 2020. Methodology: An antibiotic prescribing pattern survey was carried out among the patients of hospital. Medical case sheets of patients and drug charts were used to record in standardized performa. Results: Total 203 patients on antibiotics were included in the study. Antibiotics prescribed in Gynae Department were UTIs 57%, LSCS 35%, NVD 20%, wound infection 16.6%, DandC 10%, SVD 10%, RTIs 6.6%, Extraction 6.6%, Stitch removal 6.6%, Hysterectomy 5%, Ectopic Pregnancy 5% post ovectomy 3.3% Uterine bleeding 3.3%, and most common dosage form:, Tablets: 56.6%,Capsules: 40%, Syrups:3.33% in Pead's Department URTI 62%, Cold and fever 10%, Eye Infection 8%, LRTI 6%, in dosage form: Syrups: 82%. Drops: 12%, Injection: 4%, Tablet: 2%. In Surgical ward Ceftro:35%,Titan:20%, Grasil:20%, Flagyl:10%, Kefzol:5%, Ampiclox:5%, Bestrix:5%. In General OPD, RTI 48%, Wound Infection 18%, fever 14%, UTIs 8.33%, Pneumonia 1.66% the most prescribed dosage form, Injection:28%, Syrup:12%, Drops:8.0% Tablets: 8.0%, Capsules: 6.0%. In orthopedic ward: Grasil:22.2%, Amikacin:19.3%, Oxidil:18.8%, Titan:11.11%, Cefbactam:11.11%, Kefzol:10%, Sulperazone:5.55%,, Augmentin:5.55%, Gentacin:2.7%, Most prescribed dosage form: Injection:100%,Tablets, Capsules and Syrup 0%. In Pulmonary disease department Respiratory tract infection 55% and in Bronchitis are 35%. Most commonly prescribed dosage form: Injection:50%, Tablets:45%, Capsules:5%, Syrup, and Drops 0%. Mainly Augmentin was prescribed as a combination therapy. Most antibiotics were prescribed for 5-7 days. Conclusion: The survey indicates that the use of antibiotic in tertiary care hospital is very high and is not rational.

The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL families was initially screened for mutations in GJB2 and MYO15A. Homozygosity mapping was performed by employing whole genome single nucleotide polymorphism (SNP) genotyping in the families that did not carry mutations in GJB2 or MYO15A. Mutation analysis was performed for the known ARNSHL genes present in the homozygous regions to determine the causative mutations. This allowed the identification of a causative mutation in all the 30 families including 9 novel mutations, which were identified in 9 different families (GJB2 (c.598G>A, p.Gly200Arg); MYO15A (c.9948G>A, p.Gln3316Gln; c.3866+1G>A; c.8767C>T, p.Arg2923* and c.8222T>C, p.Phe2741Ser), TMC1 (c.362+18A>G), BSND (c.97G>C, p.Val33Leu), TMPRSS3 (c.726C>G, p.Cys242Trp) and MSRB3 (c.20T>G, p.Leu7Arg)). Furthermore, 12 recurrent mutations were detected in 21 other families. The 21 identified mutations included 10 (48%) missense changes, 4 (19%) nonsense mutations, 3 (14%) intronic mutations, 2 (9%) splice site mutations and 2 (9%) frameshift mutations. GJB2 accounted for 53% of the families, while mutations in MYO15A were the second most frequent (13%) cause of ARNSHL in these 30 families. The identification of novel as well as recurrent mutations in the present study increases the spectrum of mutations in known deafness genes which could lead to the identification of novel founder mutations and population specific mutated deafness genes causative of ARNSHL. These results provide detailed genetic information that has potential diagnostic implication in the establishment of cost-efficient allele-specific analysis of frequently occurring variants in combination with other reported mutations in Pakistani populations.

Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as inherited retinal disease (IRD). We genetically screened 13 families from a cohort of 81 Pakistani IRD families diagnosed with Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), congenital stationary night blindness (CSNB), or cone dystrophy (CD). We employed genome-wide single nucleotide polymorphism (SNP) array analysis to identify homozygous regions shared by affected individuals and performed Sanger sequencing of IRD-associated genes located in the sizeable homozygous regions. In addition, based on population specific mutation data we performed targeted Sanger sequencing (TSS) of frequent variants in AIPL1, CEP290, CRB1, GUCY2D, LCA5, RPGRIP1 and TULP1, in probands from 28 LCA families. Homozygosity mapping and Sanger sequencing of IRD-associated genes revealed the underlying mutations in 10 families. TSS revealed causative variants in three families. In these 13 families four novel mutations were identified in CNGA1, CNGB1, GUCY2D, and RPGRIP1. Homozygosity mapping and TSS revealed the underlying genetic cause in 13 IRD families, which is useful for genetic counseling as well as therapeutic interventions that are likely to become available in the near future.

Intellectual disability (ID) is a major health problem mostly with an unknown etiology. Recently exome sequencing of individuals with ID identified novel genes implicated in the disease. Therefore the purpose of the present study was to identify the genetic cause of ID in one syndromic and two non-syndromic Pakistani families. Whole exome of three ID probands was sequenced. Missense variations in two plausible novel genes implicated in autosomal recessive ID were identified: lysine (K)-specific methyltransferase 2B (KMT2B), zinc finger protein 589 (ZNF589), as well as hedgehog acyltransferase (HHAT) with a de novo mutation with autosomal dominant mode of inheritance. The KMT2B recessive variant is the first report of recessive Kleefstra syndrome-like phenotype. Identification of plausible causative mutations for two recessive and a dominant type of ID, in genes not previously implicated in disease, underscores the large genetic heterogeneity of ID. These results also support the viewpoint that large number of ID genes converge on limited number of common networks i.e. ZNF589 belongs to KRAB-domain zinc-finger proteins previously implicated in ID, HHAT is predicted to affect sonic hedgehog, which is involved in several disorders with ID, KMT2B associated with syndromic ID fits the epigenetic module underlying the Kleefstra syndromic spectrum. The association of these novel genes in three different Pakistani ID families highlights the importance of screening these genes in more families with similar phenotypes from different populations to confirm the involvement of these genes in pathogenesis of ID.

Recently nonsynonymous coding variants in the ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) gene were found to be associated with primary open angle glaucoma (POAG) in cohorts from Oregon and Germany, but this finding was not confirmed in an independent cohort from Iowa. The aim of the current study was to assess the role of ASB10 gene variants in Pakistani glaucoma patients. Sanger sequencing of the coding exons and splice junctions of the ASB10 gene was performed in 30 probands of multiplex POAG families, 208 sporadic POAG patients and 151 healthy controls from Pakistan. Genotypic associations of individual variants with POAG were analyzed with the Fisher's exact or Chi-square test. In total 24 variants were identified in POAG probands and sporadic patients, including 11 novel variants and 13 known variants. 13 of the variants were nonsynonymous, 6 were synonymous, and 5 were intronic. Three nonsynonymous variants (p.Arg49Cys, p.Arg237Gly, p.Arg453Cys) identified in the probands were not segregating in the respective families. This is not surprising since glaucoma is a multifactorial disease, and multiple factors are likely to be involved in the disease manifestation in these families. However a nonsynonymous variant, p.Arg453Cys (rs3800791), was found in 6 sporadic POAG patients but not in controls, suggesting that it infers increased risk for the disease. In addition, one synonymous variant was found to be associated with sporadic POAG: p.Ala290Ala and the association of the variant with POAG remained significant after correction for multiple testing (uncorrected p-value 0.002, corrected p-value 0.047). The cumulative burden of rare, nonsynonymous variants was significantly higher in sporadic POAG patients compared to control individuals (p-value 0.000006). Variants in ASB10 were found to be significantly associated with sporadic POAG in the Pakistani population. This supports previous findings that sequence variants in the ASB10 gene may act as a risk factor for glaucoma.

Recently an association was observed between alleles in genes of the unfolded protein response pathway and primary open angle glaucoma (POAG). The goal of the current study is to investigate the role of these two genes, protein disulphide isomerase A member 5 (PDIA5) and baculoviral IAP repeat containing 6 (BIRC6), in different forms of glaucoma. 278 patients with POAG, 132 patients with primary angle closure glaucoma (PACG) and 135 patients with pseudoexfoliative glaucoma (PEXG) were genotyped for single nucleotide polymorphisms (SNPs) rs11720822 in PDIA5 and 471 POAG, 184 PACG and 218 PEXG patients were genotyped for rs2754511 in BIRC6. Genotyping was done by allelic discrimination PCR, and genotype and allele frequencies were calculated. Logistic regression analyses were performed using R software to determine the association of these SNPs with glaucoma. The allele and genotype frequencies of rs11720822 in PDIA5 were not associated with POAG, PACG or PEXG. The TT genotype of rs2754511 in BIRC6 was found to be protective for PEXG (p = 0.05, OR 0.42 [0.22-0.81]) in the Pakistani population, but not for POAG or PACG. This study did not confirm a previously reported association of risk alleles in PDIA5 and BIRC6 with POAG, but did demonstrate a protective role of the T allele of rs2754511 in the BIRC6 gene in PEXG. This supports a role for the unfolded protein response pathway and regulation of apoptotic cell death in the pathogenesis of PEXG.

The resistance distances between any pair of vertices in a graph are equal to the resistance distances between any pair of vertices on an electrical network, constructed to correspond to with each edge being replaced by a unit resistor. In this paper, we will discuss the resistance distances between two vertices of subdivided cyclic silicate network. A unit resistor is used to replace each edge. In this paper, the resistance distances between any arbitrary pairs of vertices of a subdivided cyclic silicate network are calculated using techniques from electrical network theory such as the parallel and series principles, the star-triangle transformation, the principle of elimination and substitution, and the delta-star transformation. The study of resistance distances in segmented cyclic silicate networks has far-reaching implications in materials science and computational chemistry.

Background: The antibiotic resistance is on a rise globally due to irrational use. This survey evaluated the prescribing patterns of antibiotics in tertiary care hospital in Abbottabad. Study type, settings & duration: This observational, descriptive, and prospective study was carried out in divisions of Gynecology, General Medicine, Pediatric Surgery, Orthopedics and Pulmonology, Tertiary Care Hospital, Abbottabad, KPK from 2019 to 2020.    Methodology: An antibiotic prescribing pattern survey was carried out among the patients of hospital. Medical case sheets of patients and drug charts were used to record in standardized performa. Results: Total 203 patients on antibiotics were included in the study. Antibiotics prescribed in Gynae Department were UTIs 57%, LSCS 35%, NVD 20%, wound infection 16.6%, D&C 10%, SVD 10%, RTIs 6.6%, Extraction 6.6%, Stitch removal 6.6%,  Hysterectomy 5%, Ectopic Pregnancy 5% post ovectomy 3.3% Uterine bleeding 3.3%,  & most common dosage form:, Tablets: 56.6%,Capsules: 40%, Syrups:3.33% in Pead’s Department URTI 62%, Cold and fever 10%, Eye Infection 8%, LRTI 6% , in dosage form: Syrups: 82%. Drops: 12%, Injection: 4%, Tablet: 2%. In Surgical ward Ceftro:35%,Titan:20%, Grasil:20%, Flagyl:10%, Kefzol:5%, Ampiclox:5%, Bestrix:5%. In General OPD, RTI 48%, Wound Infection 18%, fever 14%, UTIs 8.33%, Pneumonia 1.66% the most prescribed dosage form, Injection :28%, Syrup:12%, Drops:8.0% Tablets: 8.0%, Capsules: 6.0%. In orthopedic ward: Grasil:22.2%, Amikacin:19.3%, Oxidil:18.8%, Titan:11.11%, Cefbactam:11.11%, Kefzol:10%, Sulperazone:5.55%, , Augmentin:5.55%, Gentacin:2.7%, Most prescribed dosage form: Injection :100%,Tablets, Capsules and Syrup 0%. In Pulmonary disease department Respiratory tract infection 55% and in Bronchitis are 35%.  Most commonly prescribed dosage...

Background: The antibiotic resistance is on a rise globally due to irrational use. This survey evaluated the prescribing patterns of antibiotics in tertiary care hospital in Abbottabad. Study type, settings & duration: This observational, descriptive, and prospective study was carried out in divisions of Gynecology, General Medicine, Pediatric Surgery, Orthopedics and Pulmonology, Tertiary Care Hospital, Abbottabad, KPK from 2019 to 2020.    Methodology: An antibiotic prescribing pattern survey was carried out among the patients of hospital. Medical case sheets of patients and drug charts were used to record in standardized performa. Results: Total 203 patients on antibiotics were included in the study. Antibiotics prescribed in Gynae Department were UTIs 57%, LSCS 35%, NVD 20%, wound infection 16.6%, D&C 10%, SVD 10%, RTIs 6.6%, Extraction 6.6%, Stitch removal 6.6%,  Hysterectomy 5%, Ectopic Pregnancy 5% post ovectomy 3.3% Uterine bleeding 3.3%,  & most common dosage form:, Tablets: 56.6%,Capsules: 40%, Syrups:3.33% in Pead’s Department URTI 62%, Cold and fever 10%, Eye Infection 8%, LRTI 6% , in dosage form: Syrups: 82%. Drops: 12%, Injection: 4%, Tablet: 2%. In Surgical ward Ceftro:35%,Titan:20%, Grasil:20%, Flagyl:10%, Kefzol:5%, Ampiclox:5%, Bestrix:5%. In General OPD, RTI 48%, Wound Infection 18%, fever 14%, UTIs 8.33%, Pneumonia 1.66% the most prescribed dosage form, Injection :28%, Syrup:12%, Drops:8.0% Tablets: 8.0%, Capsules: 6.0%. In orthopedic ward: Grasil:22.2%, Amikacin:19.3%, Oxidil:18.8%, Titan:11.11%, Cefbactam:11.11%, Kefzol:10%, Sulperazone:5.55%, , Augmentin:5.55%, Gentacin:2.7%, Most prescribed dosage form: Injection :100%,Tablets, Capsules and Syrup 0%. In Pulmonary disease department Respiratory tract infection 55% and in Bronchitis are 35%.  Most commonly prescribed dosage...