Antioxidant and Antimicrobial Properties of Pumpkin (Cucurbita maxima) Peel, Flesh and Seeds Powders

This research work was designed to investigate and utilize all three parts (peel, flesh and seeds) of pumpkin for their antioxidant and antimicrobial activities. Pumpkin parts were separated, dried, grinded to powder and extracted by using 80% methanol. Percentage yield of pumpkin peel, flesh and seeds extracts, was found 12.37±0.10, 8.84±0.07 and 3.53±0.06% respectively. DPPH free radical scavenging activity (mg AAE/100 g) of pumpkin peel, flesh and seeds extracts was found 13.00±0.08, 10.58:0.06 and 16.53±0.09 respectively. All three types of extracts exhibited prominent antifungal activities against four fungal strains Candida albicans, Fusarium oxysporum, Mucor miehei and Trichoderma spp. Pumpkin seeds extracts exhibited greater zone of inhibition against these fungal strains as compared to pumpkin peel and flesh extracts. For antibacterial study four bacterial strains Salmonella typhi, Escherichia coli, Bacillus subtilis and Streptococcus aureus were used. Pumpkin flesh extracts exhibited greater antibacterial activities as compared to pumpkin peel and seeds extracts. Keywords: Pumpkin, Extracts, Antibacterial, Antifungal, Zone of inhibition, Free radicals DOI: 10.7176/JBAH/11-6-05 Publication date:March 31st 202

Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

In the original publication of this article [1], there are two errors in the article which the cDNA position of the pathogenic variant WNT1 p.Gly324Cys should be c.970G>T instead of c.1168G>T

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family

We report on three new patients with spondyloocular syndrome (SOS) in a consanguineous Pakistani family. All three patients present progressive generalized osteoporosis, short stature, recurrent fractures, hearing loss and visual impairments. WES revealed a novel homozygous frameshift variant in exon 11 of XYLT2 (NG 012175.1, NP_071450.2) resulting in loss of evolutionary conserved amino acid sequences (840 - 865/865) at C -terminus p.R840fs*115. Sanger Sequencing confirmed the presence of the novel homozygous mutation in all three patients while the parents were heterozygous carriers of the mutation, in accordance with an autosomal recessive inheritance pattern. Only nine variants worldwide have previously been reported in XYLT2 in patients with SOS phenotype. These three patients with novel homozygous variant extend the genotypic and phenotypic spectrum of SOS.Peer reviewe

A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family

We report on three new patients with spondyloocular syndrome (SOS) in a consanguineous Pakistani family. All three patients present progressive generalized osteoporosis, short stature, recurrent fractures, hearing loss and visual impairments. WES revealed a novel homozygous frameshift variant in exon 11 of XYLT2 (NG 012175.1, NP_071450.2) resulting in loss of evolutionary conserved amino acid sequences (840 – 865/865) at C-terminus p.R840fs∗115. Sanger Sequencing confirmed the presence of the novel homozygous mutation in all three patients while the parents were heterozygous carriers of the mutation, in accordance with an autosomal recessive inheritance pattern. Only nine variants worldwide have previously been reported in XYLT2 in patients with SOS phenotype. These three patients with novel homozygous variant extend the genotypic and phenotypic spectrum of SOS

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

Abstract Introduction Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease with skeletal fragility and variable extra-skeletal manifestations. To date several point mutations in 18 different genes causing different types of OI have been identified. Mutations in WNT1 compromise activity of the osteoblasts leading to disturbed bone mass accrual, fragility fractures and progressive skeletal abnormalities. The present study was conducted to determine the underlying genetic cause of an autosomal recessive skeletal dysplasia in a large consanguineous family from Chinute, Pakistan. Materials and methods Blood was collected from 24 individuals of affected family along with clinical data. Homozygosity mapping was performed to confirm consanguinity. SNPs were identified, followed by whole exome and Sanger sequencing. In silico characterization of WNT1 mutation was performed using multiple platforms. Results Nine affected family members exhibited severe bone deformities, recurrent fractures, short stature and low bone mineral density. SNP array data revealed homozygous segments > 1 Mb in length accounting for 2.1–12.7% of the genome in affected individuals and their siblings and a single 6,344,821 bp homozygous region in all affected individuals on chromosome 12q12-q13. This region includes two potential OI candidate genes WNT1 and VDR. We did whole-exome sequencing for both genes in two patients and identified a novel damaging missense mutation in exon 4 of WNT1: c.1168G > T (NM_005430) resulting in p.G324C. Sanger sequencing confirmed segregation of mutation with the disease in family. Conclusion We report a novel mutation responsible for OI and our investigation expands the spectrum of disease-causing WNT1 mutations and the resulting OI phenotypes

Utilization of malted barley flour as replacement of wheat flour to improve technological, rheological, physicochemical, and organoleptic parameters of fortified breads

Introduction: Flours from cereal grains have the potential to be used in the production of bakery products, especially breads, and the addition of other non–wheat plant materials in the form of flours, extracts and malts has always been the area of interest for food producers. Methods: In this research work, barley grains were converted into barley malt flour (BMF), by adopting a series of processes, including steeping, germination, kilning, drying and milling. With the aim of compensating the role of commercial bread improvers, wheat flour was replaced at 0, 2.5, 5, 7.5, and 10% levels with BMF, to study the effect of BMF on physicochemical and sensory characteristics of bread. Results and discussion: Chemical analysis of flours revealed that ash, fat, moisture, protein and fibers were found greater in BMF and BMF–incorporated composite flours, as compared to wheat flour. Significant increases in water absorption and decrease in dough stability, dough development time and falling number were noticed, as a result of an increase in the replacement level of BMF. Water absorption of control dough was 58.03%, which increased to 58.77% in composite flour having 10% BMF, whereas dough development time, dough stability and α–amylase activity of control, were 6.97 min, 12 min, and 736 s, respectively, which were decreased to 3.83 min, 4.73 min, and 360 s, respectively in composite flour having 10% BMF. The internal and external characteristics of breads obtained the best sensorial score at 5% replacement level of BMF, and deterioration in the quality of breads was noticed, as the level of BMF was further increased to 7.5 and 10%. Hence, breads developed with 5% BMF and 95% wheat flour, were not only nutritionally rich, but were also with optimum physical and sensory features. BMF could prove a useful alternate ingredient of wheat flour, and a cost-effective replacement of commercially available bread improvers, in the breads manufacturing process in replacement of synthetic bread improvers.info:eu-repo/semantics/publishedVersio

Utilization of malted barley flour as replacement of wheat flour to improve technological, rheological, physicochemical, and organoleptic parameters of fortified breads

Introduction: Flours from cereal grains have the potential to be used in the production of bakery products, especially breads, and the addition of other non–wheat plant materials in the form of flours, extracts and malts has always been the area of interest for food producers. Methods: In this research work, barley grains were converted into barley malt flour (BMF), by adopting a series of processes, including steeping, germination, kilning, drying and milling. With the aim of compensating the role of commercial bread improvers, wheat flour was replaced at 0, 2.5, 5, 7.5, and 10% levels with BMF, to study the effect of BMF on physicochemical and sensory characteristics of bread. Results and discussion: Chemical analysis of flours revealed that ash, fat, moisture, protein and fibers were found greater in BMF and BMF–incorporated composite flours, as compared to wheat flour. Significant increases in water absorption and decrease in dough stability, dough development time and falling number were noticed, as a result of an increase in the replacement level of BMF. Water absorption of control dough was 58.03%, which increased to 58.77% in composite flour having 10% BMF, whereas dough development time, dough stability and α–amylase activity of control, were 6.97 min, 12 min, and 736 s, respectively, which were decreased to 3.83 min, 4.73 min, and 360 s, respectively in composite flour having 10% BMF. The internal and external characteristics of breads obtained the best sensorial score at 5% replacement level of BMF, and deterioration in the quality of breads was noticed, as the level of BMF was further increased to 7.5 and 10%. Hence, breads developed with 5% BMF and 95% wheat flour, were not only nutritionally rich, but were also with optimum physical and sensory features. BMF could prove a useful alternate ingredient of wheat flour, and a cost-effective replacement of commercially available bread improvers, in the breads manufacturing process in replacement of synthetic bread improvers

Biallelic variants in four genes underlying recessive osteogenesis imperfecta

Peer reviewe

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

Background Skeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal dysplasias comprise one subgroup. Deficiency of carbohydrate sulfotransferase 3 has been reported in a small number of patients with recessively inherited spondyloepiphyseal dysplasia with joint dislocation, short stature and scoliosis. We report here molecular and clinical findings of affected individuals in three consanguineous Pakistani families. Affected individuals in all three families had a uniform phenotype including severe short stature, multiple dislocated joints, progressive scoliosis and facial dysmorphism. Methods Clinical evaluation was done for three unrelated families. Radiological survey of bones was completed for patients from two of the families. Whole exome sequencing index patients from each family was performed followed by Sanger sequencing for validation of segregation of identified variants in respective families. In-silico analysis for determining pathogenicity of identified variants and conservation was done. Results Whole-exome sequencing revealed biallelic variants c.590 T > C;p.(Leu197Pro), c.603C > A;p.(Tyr201Ter) and c.661C > T;p.(Arg221Cys) in CHST3 (NM_004273.5) in the three families with eight, five and two affected individuals, respectively. Contrary to previous reports, affected individuals in none of the families exhibited a hearing loss. Conclusion We describe genotypic and phenotypic findings of three unrelated families with spondyloepiphyseal dysplasia. Our study confirms phenotypic variability and adds to the genotypic spectrum of spondyloepiphyseal dysplasia.Peer reviewe

Effect of early tranexamic acid administration on mortality, hysterectomy, and other morbidities in women with post-partum haemorrhage (WOMAN): an international, randomised, double-blind, placebo-controlled trial

Background Post-partum haemorrhage is the leading cause of maternal death worldwide. Early administration of tranexamic acid reduces deaths due to bleeding in trauma patients. We aimed to assess the effects of early administration of tranexamic acid on death, hysterectomy, and other relevant outcomes in women with post-partum haemorrhage. Methods In this randomised, double-blind, placebo-controlled trial, we recruited women aged 16 years and older with a clinical diagnosis of post-partum haemorrhage after a vaginal birth or caesarean section from 193 hospitals in 21 countries. We randomly assigned women to receive either 1 g intravenous tranexamic acid or matching placebo in addition to usual care. If bleeding continued after 30 min, or stopped and restarted within 24 h of the first dose, a second dose of 1 g of tranexamic acid or placebo could be given. Patients were assigned by selection of a numbered treatment pack from a box containing eight numbered packs that were identical apart from the pack number. Participants, care givers, and those assessing outcomes were masked to allocation. We originally planned to enrol 15 000 women with a composite primary endpoint of death from all-causes or hysterectomy within 42 days of giving birth. However, during the trial it became apparent that the decision to conduct a hysterectomy was often made at the same time as randomisation. Although tranexamic acid could influence the risk of death in these cases, it could not affect the risk of hysterectomy. We therefore increased the sample size from 15 000 to 20 000 women in order to estimate the effect of tranexamic acid on the risk of death from post-partum haemorrhage. All analyses were done on an intention-to-treat basis. This trial is registered with ISRCTN76912190 (Dec 8, 2008); ClinicalTrials.gov, number NCT00872469; and PACTR201007000192283. Findings Between March, 2010, and April, 2016, 20 060 women were enrolled and randomly assigned to receive tranexamic acid (n=10 051) or placebo (n=10 009), of whom 10 036 and 9985, respectively, were included in the analysis. Death due to bleeding was significantly reduced in women given tranexamic acid (155 [1·5%] of 10 036 patients vs 191 [1·9%] of 9985 in the placebo group, risk ratio [RR] 0·81, 95% CI 0·65–1·00; p=0·045), especially in women given treatment within 3 h of giving birth (89 [1·2%] in the tranexamic acid group vs 127 [1·7%] in the placebo group, RR 0·69, 95% CI 0·52–0·91; p=0·008). All other causes of death did not differ significantly by group. Hysterectomy was not reduced with tranexamic acid (358 [3·6%] patients in the tranexamic acid group vs 351 [3·5%] in the placebo group, RR 1·02, 95% CI 0·88–1·07; p=0·84). The composite primary endpoint of death from all causes or hysterectomy was not reduced with tranexamic acid (534 [5·3%] deaths or hysterectomies in the tranexamic acid group vs 546 [5·5%] in the placebo group, RR 0·97, 95% CI 0·87-1·09; p=0·65). Adverse events (including thromboembolic events) did not differ significantly in the tranexamic acid versus placebo group. Interpretation Tranexamic acid reduces death due to bleeding in women with post-partum haemorrhage with no adverse effects. When used as a treatment for postpartum haemorrhage, tranexamic acid should be given as soon as possible after bleeding onset. Funding London School of Hygiene & Tropical Medicine, Pfizer, UK Department of Health, Wellcome Trust, and Bill & Melinda Gates Foundation