Publications by authors named "Noor Muhammad"

114 Publications

Protocol of a Single-Blind Two-Arm (Waitlist Control) Parallel-Group Randomised Controlled Pilot Feasibility Study for mHealth App among Incontinent Pregnant Women.

Int J Environ Res Public Health 2021 Apr 30;18(9). Epub 2021 Apr 30.

Klinik Kesihatan Ampang, Ampang 68000, Malaysia.

Background: The delivery of pelvic floor muscle training (PFMT) through mHealth apps has been shown to produce promising results in improving pelvic floor muscle strength and urinary incontinence (UI). However, there is limited evidence on mHealth apps designed for pregnant women who are at high risk of developing UI. This pilot study aims to evaluate the feasibility of conducting an effectiveness trial for a newly developed PFMT app among pregnant women in Malaysia.

Methods: This is a prospective, single-centre, single-blind, randomised controlled pilot feasibility study: The Kegel Exercise Pregnancy Training app (KEPT-app) Trial. Sixty-four incontinent pregnant women who attended one primary care clinic for the antenatal follow-up will be recruited and randomly assigned to either intervention or waitlist control group. The intervention group will receive the intervention, the KEPT-app developed from the Capability, Opportunity, Motivation-Behaviour (COM-B) theory with Persuasive Technology and Technology Acceptance Model.

Discussion: This study will provide a fine-tuning for our future randomised control study on the recruitment feasibility methods, acceptability, feasibility, and usability of the KEPT-app, and the methods to reduce the retention rates among pregnant women with UI.

Trial Registration: This study was registered on ClinicalTrials.gov on 19 February 2021 (NCT04762433) and is not yet recruiting.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijerph18094792DOI Listing
April 2021

Current Interventional Radiology-Related Benchmarked Clinical Quality Measures Are Less Likely to be "Capped" Than Diagnostic Radiology Clinical Quality Measures.

J Vasc Interv Radiol 2021 05;32(5):677-682

Advent Health, Orlando, Florida. Electronic address:

In the merit-based incentive payment system (MIPS), quality measures are considered topped out if national median performance rates are ≥95%. Quality measures worth 10 points can be capped at 7 points if topped out for ≥2 years. This report compares the availability of diagnostic radiology (DR)-related and interventional radiology (IR)-related measures worth 10 points. A total of 196 MIPS clinical quality measures were reviewed on the Center for Medicare and Medicaid Services MIPS website. There are significantly more IR-related measures worth 10 points than DR measures (2/9 DR measures vs 9/12 IR measures; P = .03), demonstrating that clinical IR services can help mixed IR/DR groups maximize their Center for Medicare and Medicaid Services payment adjustment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jvir.2020.11.016DOI Listing
May 2021

Acute Retropharyngeal Calcific Tendonitis as a Rare Cause of Odynophagia and Neck Pain.

Medeni Med J 2021 26;36(1):75-79. Epub 2021 Mar 26.

Universiti Sains Malaysia, School of Medical Sciences, Department of Otorhinolaryngology- Head and Neck Surgery, Kelantan, Malaysia.

Retropharyngeal calcific tendonitis (RCT) is an aseptic inflammatory process of the superior oblique tendons of the longus colli muscle caused by the deposition of calcium hydroxyapatite crystals. We reported a 23-year-old woman who presented with a sudden onset of neck pain with odynophagia after waking up from sleep. Physical examination showed paracervical point tenderness with limited neck movement in all directions. Prior to surgery, further imaging was requested to aid in diagnosis, which in turn revealed RCT. It is important to be aware that RCT presentation may mimic other severe conditions such as retropharyngeal space abscess or meningitis.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5222/MMJ.2021.37539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8020188PMC
March 2021

Effectiveness Of Sofosbuvir And Ribavirin In Hepatitis C Genotype 3 Relapsers.

J Ayub Med Coll Abbottabad 2021 Jan-Mar;33(1):49-53

3Peshawar Dental College, Peshawar, Pakistan.

Background: Combination of DAAs, Sofosbuvir and Ribavirin has been known as an effective treatment for HCV genotype 3. The aim of our study is to assess the efficacy of Sofosbuvir and Ribavirin in relapsed HCV genotype 3 patients.

Methods: A cross-sectional retrospective analysis of hospital records between January 2015 and December 2016. Data was taken of only those patients who were followed for one year. A total of 193 cases were included in this study who were HCV genotype 3 relapsers and out of these 28 patients failed to be followed. Data was entered and analysed in IBM SPSS software package 23.

Results: Out of the total 193 cases, 74.1% of cases achieved RVR at 4 weeks of therapy. ETR was achieved by 91.2% cases, while 8.8% of cases were non-responders. There was statistical significance in gender achieving ETR with a p-value of .008. 84.5% of cases achieved SVR-12. Statistical significance was noted between haemoglobin levels at presentation and 4 weeks follow-up with a p-value <0.005, and also between 4 weeks and 12 weeks follow-up with a p-value <0.005. Statistical significance was also found between age and PCR at 4 weeks (p-value of .002), age and PCR at 24 weeks (p-value of .051) and between ALT levels and PCR at 4, 12 and 24 weeks follow up (p-value <0.005). At 1-year follow-up, 79.3% of cases achieved a negative PCR, 28 patients failed to be followed, 6.2% of cases had a positive PCR. 5.5% of cases of the total 163 SVR cases had a relapse at 1 year.

Conclusions: HCV genotype 3 patients can benefit from Sofosbuvir and Ribavirin. With the SVR of more than 80%, this combination is cost-effective and safe. Treatment duration should be dependent on RVR and viral load at 4 weeks follow-up.
View Article and Find Full Text PDF

Download full-text PDF

Source
March 2021

SARS-CoV-2 Genome from the Khyber Pakhtunkhwa Province of Pakistan.

ACS Omega 2021 Mar 3;6(10):6588-6599. Epub 2021 Mar 3.

State Key Laboratory of Microbial Metabolism, Shanghai-Islamabad-Belgrade Joint Innovation Center on Antibacterial Resistances, Joint International Research Laboratory of Metabolic & Developmental Sciences and School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai 200030, P. R. China.

Among viral outbreaks, the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is one of the deadliest ones, and it has triggered the global COVID-19 pandemic. In Pakistan, until 5th September 2020, a total of 6342 deaths have been reported, of which 1255 were from the Khyber Pakhtunkhwa (KPK) province. To understand the disease progression and control and also to produce vaccines and therapeutic efforts, whole genome sequence analysis is important. In the current investigation, we sequenced a single sample of SARS-CoV-2 genomes (accession no. MT879619) from a male suspect from Peshawar, the KPK capital city, during the first wave of infection. The local SARS-CoV-2 strain shows some unique characteristics compared to neighboring Iranian and Chinese isolates in phylogenetic tree and mutations. The circulating strains of SARS-CoV-2 represent an intermediate evolution from China and Iran. Furthermore, eight complete whole genome sequences, including the current Pakistani isolates which have been submitted to Global Initiative on Sharing All Influenza Data (GSAID), were also investigated for specific mutations and characters. Some novel mutations [NSP2 (D268del), NSP5 (N228K), and NS3 (F105S)] and specific characters have been detected in the coding regions, which may affect viral transmission, epidemiology, and disease severity. The computational modeling revealed that a majority of these mutations may have a stabilizing effect on the viral protein structure. In conclusion, the genome sequencing of local strains is important for better understanding the pathogenicity, immunogenicity, and epidemiology of causative agents.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1021/acsomega.0c05163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7944396PMC
March 2021

KEPT-app trial: a pragmatic, single-blind, parallel, cluster-randomised effectiveness study of pelvic floor muscle training among incontinent pregnant women: study protocol.

BMJ Open 2021 01 12;11(1):e039076. Epub 2021 Jan 12.

Department of General Practice and Primary Health Care, University of Auckland, Auckland, New Zealand.

Introduction: Pelvic floor muscle training (PFMT) strongly recommended to incontinent pregnant women. The Kegel Exercise Pregnancy Training-app trial is a multicentre cluster-randomised study aims to assess the effectiveness and its cost-effectiveness of the mobile app guidance in PFMT among incontinent pregnant women.

Methods And Analysis: 370 pregnant women (aged 18 years old and above) will be recruited with International Consultation on Incontinence Questionnaire-Urinary Incontinence-Short Form. Ten clusters (primary care clinics) will be randomly assigned to either PFMT or usual care in a 1:1 ratio by an independent researcher (sealed envelope). The primary outcome will be urinary incontinence, and the secondary outcomes (quality of life; PFMT adherence, psychological status and mobile apps' usability) will be assessed at four measurement time points (t0: baseline) and postintervention (t1: 4 weeks, t2: 8 weeks and t3: 8 weeks postnatal). T-test analysis will determine any significant differences at the baseline between the control and intervention groups. The mixed-model analysis will determine the effectiveness of the intervention at the population-average level for both the primary and secondary outcomes. For the cost-effectiveness analysis, expenditures during the study and 6 months after the intervention will be compared between the groups using the multiway sensitivity analysis. The recruitment planned will be in December 2020, and the planned end of the study will be in August 2021.

Ethics And Dissemination: This study protocol was approved by the Ethics Committee for Research Involving Human Subjects, Universiti Putra Malaysia (JKEUPM-2019-368) and Medical Research and Ethics Committee (MREC), Ministry of Health Malaysia, NMRR-19-412-47116 (IIR) with the ANZCTR registration. This study will obtain informed written consent from all the study participants. The results which conform with the Consolidated Standards of Reporting Trials and the Recommendations for Interventional Trials will be published for dissemination in peer-reviewed journals and conference proceedings.

Trial Registration Number: ACTRN12619000379112.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1136/bmjopen-2020-039076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7805359PMC
January 2021

Correction to: Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients.

Hered Cancer Clin Pract 2021 Jan 7;19(1). Epub 2021 Jan 7.

Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13053-020-00163-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7792338PMC
January 2021

Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients.

Hered Cancer Clin Pract 2020 Dec 20;18(1):25. Epub 2020 Dec 20.

Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany.

Background: The RecQ Like Helicase (RECQL) gene has previously been shown to predispose to breast cancer mainly in European populations, in particular to estrogen receptor (ER) and/or progesterone receptor (PR) positive tumor. Here, we investigated the contribution of pathogenic RECQL germline variants to hereditary breast cancer in early-onset and familial breast cancer patients from Pakistan.

Methods: Comprehensive RECQL variant analysis was performed in 302 BRCA1 and BRCA2 negative patients with ER and/or PR positive breast tumors using denaturing high-performance liquid chromatography followed by DNA sequencing. Novel variants were classified using Sherloc guidelines.

Results: One novel pathogenic protein-truncating variant (p.W75*) was identified in a 37-year-old familial breast cancer patient. The pathogenic variant frequencies were 0.3% (1/302) in early-onset and familial breast cancer patients and 0.8% (1/133) in familial patients. Further, three novel variants of unknown significance, p.I141F, p.S182S, and p.C475C, were identified in familial breast cancer patients at the age of 47, 68, and 47 respectively. All variants were absent in 250 controls.

Conclusions: Our data suggest that the RECQL gene plays a negligible role in breast cancer predisposition in Pakistan.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13053-020-00159-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7749988PMC
December 2020

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.

Genes (Basel) 2020 Nov 11;11(11). Epub 2020 Nov 11.

Institute of Human Genetics, Julius Maximilians University Würzburg, 97074 Würzburg, Germany.

The current molecular genetic diagnostic rates for hereditary hearing loss (HL) vary considerably according to the population background. Pakistan and other countries with high rates of consanguineous marriages have served as a unique resource for studying rare and novel forms of recessive HL. A combined exome sequencing, bioinformatics analysis, and gene mapping approach for 21 consanguineous Pakistani families revealed 13 pathogenic or likely pathogenic variants in the genes , , , , , , and , with an overall resolve rate of 61.9%. and were the most frequently involved genes in this cohort. All the identified variants were either homozygous or compound heterozygous, with two of them not previously described in the literature (15.4%). Overall, seven missense variants (53.8%), three nonsense variants (23.1%), two frameshift variants (15.4%), and one splice-site variant (7.7%) were observed. Syndromic HL was identified in five (23.8%) of the 21 families studied. This study reflects the extreme genetic heterogeneity observed in HL and expands the spectrum of variants in deafness-associated genes.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes11111329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7709052PMC
November 2020

Sexual risk-taking among homeless young people in Pakistan.

Health Soc Care Community 2020 Nov 10. Epub 2020 Nov 10.

Centre for Social Research in Health, The University of New South Wales, Sydney, Australia.

Homeless young people who engage in sex work are at increased risk of HIV and other sexually transmitted infections like chlamydia, gonorrhoea, syphilis and herpes. Semi-structured interviews were conducted with 29 homeless young people between the ages of 16 and 25 years from Rawalpindi, Pakistan, to explore how sexual practices were mediated through social and contextual conditions. Participants engaged in sex for a range of reported reasons, most commonly to generate income, but also to build intimacy and to establish intimate partnerships which could bring physical protection and social and emotional support. Although participants were aware of the sexual health risks attached to condomless sex, they engaged in it due to the social obligations of intimate partnerships, financial considerations and to better manage potentially violent situations. Instead of condoms, participants used alternate methods like withdrawal, oral sex, post-sex douching and specific sexual positions. These were not always useful, and some methods might have inadvertently increased their risk of HIV. The study findings suggest that an integrated health promotion approach that goes beyond the health sector and a singular emphasis on risk awareness may help reduce young people's risk of homelessness and sexual health risks.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/hsc.13220DOI Listing
November 2020

A Rare Case of Primary Mediastinal Endodermal Sinus Tumor Presenting with Hemoptysis.

Cureus 2020 Aug 2;12(8):e9517. Epub 2020 Aug 2.

Radiology, Osceola Regional Medical Center, Kissimmee, USA.

Mediastinal non-seminomatous germ cell tumors (NSGCTs) are very rare, with an approximate annual incidence of 500 in the United States. Here, we present a case of a 22-year-old male presenting with hemoptysis who was found to have primary mediastinal NSGCT, endodermal sinus tumor type (or yolk sac type). We review the imaging findings, pathology, and treatment of primary mediastinal endodermal sinus tumors.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.9517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462652PMC
August 2020

Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.

Eur J Dermatol 2020 Aug;30(4):408-416

Department of Biochemistry, Hazara University, Mansehra, Khyber Pakhtunkhwa, Pakistan.

Background: Hypohidrotic ectodermal dysplasia (HED) is a congenital anomaly characterized by hypohydrosis, hypotrichosis and hypodontia. Mutations in at least four genes (EDAR, EDARADD, WNT10A, TRAF6) have been reported to cause both autosomal recessive and autosomal dominant forms of HED. Mutations in two other genes (EDA and IKBKG) have been reported to cause X-linked HED.

Objectives: To clinically characterize three consanguineous families (A-C) segregating with autosomal recessive HED and identify possible disease-causing variants of EDAR and EDARADD genes.

Materials And Methods: The genes, EDAR and EDARADD, were sequenced in Family A and C, and exome sequencing was performed in Family B. Additionally, in Family A and C, the effect of the identified variants was examined by analysis of EDAR mRNA, extracted from hair follicles from both affected and unaffected members.

Results: Sequence analysis revealed three possible disease-causing EDAR variants including a novel splice acceptor site variant (IVS3-1G > A) in Family A and two previously reported mutations (p.[Ala26Val], p.[Arg25*]) in the two other families. Previously, the nonsense variant p.(Arg25*) was reported only in the heterozygous state. Analysis of the RNA, extracted from hair follicles, revealed skipping of a downstream exon in EDAR and complete degradation of EDAR mRNA in affected members in family A and C, respectively. Computational modelling validated the pathogenic effect of the two variants identified in Family B and C.

Conclusion: The three variants reported here expand the spectrum of EDAR mutations associated with HED which may further facilitate genetic counselling of families segregating with similar disorders in the Pakistani population.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1684/ejd.2020.3844DOI Listing
August 2020

Contrast-Enhanced CT May Identify High-Risk Esophageal Varices in Patients With Cirrhosis.

AJR Am J Roentgenol 2020 09 1;215(3):617-623. Epub 2020 Jul 1.

Department of Radiology, AdventHealth Medical Group/Central Florida Division, 601 E Rollins, Orlando, FL 32803.

The Baveno VI consensus established guidelines to reduce unnecessary screening esophagogastroduodenoscopy (EGD) for esophageal varices (EVs). We assessed whether EVs that would require intervention at EGD can be identified on CT and evaluated if recommending EGD on the basis of CT findings would result in unnecessary EGD according to the Baveno VI consensus guidelines. This single-institution retrospective study identified 97 contrast-enhanced CT examinations within 3 months of EGD in 93 patients with cirrhosis from 2008 to 2018. Demographic information, EGD findings, interventions, and laboratory data were reviewed. CT scans were reviewed for EVs and compared with EGD findings. Var-ices that were 4 mm or larger were considered large, and those requiring intervention were considered high risk. The presence of large EVs on CT was 80% sensitive and 87% specific for high-risk varices at EGD. Large EVs on CT were associated with bleeding as the indication for EGD ( = 0.03) and the presence of high-risk varices at EGD ( < 0.001). The positive predictive value that a large EV on CT corresponded to a high-risk EV at EGD was 90.4% (95% CI, 0.78-0.96). Patients with large EVs on CT were 9.4 times more likely to have a grade III or grade IV EV at EGD. Large EVs on CT correlated with high-risk varices at EGD and may be a useful indicator that EGD should be considered for confirmatory diagnosis and treatment. Recommending EGD for patients with EVs of 4 mm or larger did not result in EGD that would be deemed unnecessary according to the Baveno VI consensus guidelines.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2214/AJR.19.22474DOI Listing
September 2020

Hepatobiliary Scintigraphy in Cholecystocolonic Fistula.

Clin Nucl Med 2020 Aug;45(8):626-627

From the AdventHealth Medical Group Radiology at Central Florida, Orlando, FL.

We report a case of a 50-year-old man diagnosed with cholecystocolonic fistula (CCF), confirmed by scintigraphy. After negative initial radiologic workup, a colonoscopy revealed findings of right-sided ischemic colitis. Soon after, a febrile episode prompted a repeat abdominal CT scan demonstrating a possible CCF, later confirmed with a nuclear medicine hepatobiliary scintigraphy and treated surgically. Less than 10% of CCFs are diagnosed preoperatively.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/RLU.0000000000003083DOI Listing
August 2020

A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.

BMC Med Genet 2020 05 7;21(1):97. Epub 2020 May 7.

Institute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore, Pakistan.

Background: Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and composition. It appears both in syndromic as well as non-syndromic forms. In the affected individuals, the enamel is usually thin, soft, rough, brittle, pitted, chipped, and abraded, having reduced functional ability and aesthetics. It leads to severe complications in the patient, like early tooth loss, severe discomfort, pain, dental caries, chewing difficulties, and discoloration of teeth from yellow to yellowish-brown or creamy type. The study aimed to identify the disease-causing variant in a consanguineous family.

Methods: We recruited a consanguineous Pashtun family of Pakistani origin. Exome sequencing analysis was followed by Sanger sequencing to identify the pathogenic variant in this family.

Results: Clinical analysis revealed hypomaturation AI having generalized yellow-brown or creamy type of discoloration in affected members. We identified a novel nonsense sequence variant c.1192C > T (p.Gln398*) in exon-12 of SLC24A4 by using exome sequencing. Later, its co-segregation within the family was confirmed by Sanger sequencing. The human gene mutation database (HGMD, 2019) has a record of five pathogenic variants in SLC24A4, causing AI phenotype.

Conclusion: This nonsense sequence variant c.1192C > T (p.Gln398*) is the sixth disease-causing variant in SLC24A4, which extends its mutation spectrum and confirms the role of this gene in the morphogenesis of human tooth enamel. The identified variant highlights the critical role of SLC24A4 in causing a rare AI type in humans.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-020-01038-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206816PMC
May 2020

Hepatic Angiosarcoma: A Case Presentation.

Cureus 2020 Feb 2;12(2):e6848. Epub 2020 Feb 2.

Radiology, AdventHealth Orlando, Orlando, USA.

A 71-year-old male who presented with right upper quadrant pain was found to have hepatic angiosarcoma. We briefly review the epidemiology, presentation, imaging findings, and pathological diagnosis of hepatic angiosarcoma.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.6848DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7053695PMC
February 2020

Reliability and Remaining Life Assessment of an Electronic Fuze Using Accelerated Life Testing.

Micromachines (Basel) 2020 Mar 6;11(3). Epub 2020 Mar 6.

Department of Electrical and Electronics Engineering, University of Surrey, Guildford GU2 7XH, UK.

An electronic fuze is a one-shot system that has a long storage life and high mission criticality. Fuzes are designed, developed, and tested for high reliability (over 99%) with a confidence level of more than 95%. The electronic circuit of a fuze is embedded in the fuze assembly, and thus is not visible. Go/NoGo fuze assembly mission critical testing does not provide prognostic information about electrical and electronic circuits and subtle causes of failure. Longer storage times and harsh conditions cause degradation at the component level. In order to calculate accrued damage due to storage and operational stresses, it is necessary to perform sample-based accelerated life testing after a certain time and estimate the remaining useful life of mission critical parts. Reliability studies of mechanical parts of such systems using nondestructive testing (NDT) have been performed, but a thorough investigation is missing with regards to the electronic parts. The objective of this study is to identify weak links and estimate the reliability and remaining useful life of electronic and detonating parts. Three critical components are identified in an electronic fuze circuit (1) a diode, (2) a capacitor, and (3) a squib or detonator. The accelerated test results reveal that after ten years of storage life, there is no significant degradation in active components while passive components need to be replaced. The squib has a remaining useful life (RUL) of more than ten years with reliability over 99%.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/mi11030272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7143633PMC
March 2020

A Review of Benign Hepatic Tumors and Their Imaging Characteristics.

Cureus 2020 Jan 29;12(1):e6813. Epub 2020 Jan 29.

Radiology, AdventHealth Orlando, Orlando, USA.

This paper concisely reviews the benign hepatic tumors most commonly encountered by clinicians. It includes the epidemiology, pathology, and imaging characteristics of hepatic hemangiomas, focal nodular hyperplasia (FNH), and hepatic adenomas (HAs).
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.7759/cureus.6813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7047931PMC
January 2020

Exploration of Carica papaya bioactive compounds as potential inhibitors of dengue NS2B, NS3 and NS5 protease.

Pak J Pharm Sci 2020 Jan;33(1(Supplementary)):355-360

Department of Biochemistry, Government College University, Faisalabad, Pakistan.

Current outbreak of dengue has shown serious health concerns in Pakistan. The present study reports the anti-dengue potential of Carica papaya natural compounds. The leaves of C. papaya have previously shown promising results in cure of Dengue fever. The aim of this project is to find specific bioactive compounds by computational screening and biological activities of C. papaya against serine NS2B, NS3 and NS5 proteases of dengue virus. Docking study resulted in the screening of nine bioactive compounds having highest docking scores. However, three compounds namely epigallocatchin, catechin and protocatechuric acid had the strongest binding affinity with the active residues i.e., Ser135, His51 and Asp75 of dengue virus serine proteases. Results also indicated that the extract of C. papaya was a strong antimicrobial and antioxidant agent. It is concluded that the C. papaya compounds can be commercially applied for medical formulations against dengue virus.
View Article and Find Full Text PDF

Download full-text PDF

Source
January 2020

Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families.

J Pak Med Assoc 2020 Jan;70(1):143-146

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.

Primitive epidermis develops the nail apparatus. Nails have a strong and inflexible nail plate at the end of each digit. Very few genes responsible for causing nonsyndromic form of nail dysplasia have been reported. In the current study, peripheral blood samples were collectedfrom three unaffected individuals and four affectedindividuals of Family A, while blood from two affected and three unaffected individuals were taken of Family B. Genotyping in both the families was performed using highly polymorphic short tandem repeat microsatellite markers. Sanger sequence of the FZD6 gene was performed and analysed for segregation analysis. A comparative modelling approach was used to predict the three-dimensional structures of FZD-6 protein using Modeller 4. Linkage analysis mapped a disease locus on chromosome 8q22.3, harbouring FZD6. Targeted Sanger sequencing of all the coding exons of FZD6 revealed a nonsense sequence variant in pedigree A, whereas a missense sequence variant in pedigree B. Finding and literature indicates the disease spectrum of Pakistani population with claw-shaped nail dysplasia, particularly in families of Pashtun origin.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5455/JPMA.9200DOI Listing
January 2020

Pancreaticogastrostomy: A Safe Option in Pancreaticoduodenectomy for Pancreatic Head and Periampullary Neoplasms.

J Coll Physicians Surg Pak 2020 Jan;30(1):51-56

Department of Surgical Oncology, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.

Objective: To determine the safety of pancreaticogastrostomy in pancreaticoduodenectomy in patients with periampullary and pancreatic head neoplasms in terms of surgical technique, pancreatic fistula rate, 30 days mortality and three years survival.

Study Design: Cohort study.

Place And Duration Of Study: Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan, from October 2014 to September 2017.

Methodology: Patients undergoing pancreaticoduodenectomy for pancreatic head and periampullary tumors were included. Patients having metastatic disease or involvement of celiac artery, hepatic artery or superior mesenteric artery on preoperative scans, complete encasement of portal vein and superior mesenteric vein (SMV) were excluded. Patients' characteristics including the demographics, surgical technique, postoperative pancreatic fistula, 30 days mortality and three years survival were recorded. Mean ± standard deviation was used for continuous variables while frequencies and percentages were used for categorical variables. Kaplan-Meier method was used to estimate survival as a function of time, and survival differences were analysed by either Log-Rank test or Tarone-Ware test. Statistical significance was defined as a two-tailed p-value 0.05.

Results: One hundred and one patients underwent pancreaticoduodenectomy. Fifty-eight (57.4%) were males and 43 (42.4%) were females (n=43). Mean age was 51.5 ±14.17 years. The commonly found tumor was periampullary adenocarcinoma which was present in 49.5% (n=50) patients followed by pancreatic head adenocarcinoma which was present in 32.7% (n=33) patients and 17.8% (n=18) patients had other tumors. Most common pathological T-stage was T3 present in 47.5% (n=48) patients, followed by T2 found in 36.6% (n=37) patients and T1 stage was present in 15.8% (n=16) patients. 57.4% (n=58) patients had node positive disease. Pancreaticogastrostomy was done in 87.13% (n=88) patients, while pancreaticojejunostomy was done in 12.87% (n=13) patients. Recurrent disease was noticed in 11.9% (n=12) patients. Mean survival of pancreatic head adenocarcinoma was 787.04 ±81.89 days, which was comparatively less than periampullary adenocarcinoma, i.e. 983.10 ±52.27 days (p=0.08). Overall mean survival was 924 ±41.3 days.

Conclusion: Patients with periampullary tumors had a better outcome than pancreatic head tumors in this series. Pancreaticogastrostomy can be a safe alternative to pancreaticojejunostomy, especially in patients having non-dilated pancreatic duct and soft pancreas.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.29271/jcpsp.2020.01.51DOI Listing
January 2020

Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disability.

J Pak Med Assoc 2019 Dec;69(12):1812-1816

Gomal Centre of Biochemistry and Biotechnology, Gomal University, D.I. Khan, Khyber Pakhtunkhwa, Pakistan.

Objective: To investigate the genetic factor responsible for causing microcephaly and determine allelic heterogeneity of Abnormal spindle microtubule gene.

Methods: The genetic study was conducted at the Kohat University of Science and Technology, Kohat, and Gomal University, D.I.Khan, Pakistan, during 2017-18, and comprised 5 consanguineous families from South Waziristan, Kurram Agency, Karak, Bannu and Dera Ismail Khan regions of the country's Khyber Pakhtukhwa province. Blood samples from all available and cooperative family members (including normal and affected) were obtained, and molecular analysis was carried out through whole genome single nucleotide polymorphisms genotyping, exome sequencing and Sanger sequencing.

Results: Of the 15 patients, 9(60%) were males and 6(40%) were females. Genetic mapping revealed linkage to the MCPH5 locus which harbours the microcephaly-associated abnormal spindle-like microcephaly gene. Mutation analysis of the gene identified missense mutation c.3978G>A (p.Trp1326*) in families A, B and C, a deletion mutation c.7782_7783delGA (p.(Lys2595Serfs*6)) in family D, and a splice site defect c.2936+5G>A in family E.

Conclusions: There was suggestion of strong founder effect of mutation c.3978G>A (p.Trp1326*).
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.5455/JPMA.300681DOI Listing
December 2019

The Integrated IR Residency Curriculum: Current State of Affairs.

J Vasc Interv Radiol 2020 01 23;31(1):176-178. Epub 2019 Nov 23.

Department of Radiology, Kaiser Permanente Medical Center, Fremont, California.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jvir.2019.09.008DOI Listing
January 2020

Prevalence and spectrum of , , and pathogenic germline variants in Pakistani colorectal cancer patients.

Hered Cancer Clin Pract 2019 23;17:29. Epub 2019 Oct 23.

5Department of Internal Medicine, SKMCH&RC, Lahore, Pakistan.

Background: Pathogenic germline variants in , and genes account for the majority of Lynch syndrome (LS). In this first report from Pakistan, we investigated the prevalence of pathogenic variants in colorectal cancer (CRC) patients.

Methods: Consecutive cases ( = 212) were recruited at the Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH&RC), between November 2007 to March 2011. Patients with a family history of > 3 or 2 HNPCC-associated cancers were classified as HNPCC ( = 9) or suspected-HNPCC ( = 20), respectively (group 1;  = 29). Cases with no family history were designated as non-HNPCC (group 2;  = 183). genes were comprehensively screened in group 1. Pathogenic/likely pathogenic variants identified in group 1 were subsequently evaluated in group 2.

Results: Eight distinct pathogenic/likely pathogenic variants were found in group 1 (10/29; 34.5%), belonging to HNPCC (5/9; 55.6%) and suspected-HNPCC (5/20; 25%) families and in group 2 (2/183; 1.1%) belonging to non-HNPCC. Overall, three recurrent variants ( c.943-1G > C, c.1358dup and c.2041G > A) accounted for 58.3% (7/12) of all families harboring pathogenic/likely pathogenic variants. Pathogenic variants were not detected.

Conclusion: Pathogenic/likely pathogenic variants account for a substantial proportion of CRC patients with HNPCC/suspected-HNPCC in Pakistan. Our findings suggest that HNPCC/suspected-HNPCC families should be tested for these recurrent variants prior to comprehensive gene screening in this population.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13053-019-0128-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6806584PMC
October 2019

Deleterious Variants in , and Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.

Int J Mol Sci 2019 Oct 24;20(21). Epub 2019 Oct 24.

Institute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore 54000, Pakistan.

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 , , , and , cause the phenotypic expression of HED. Genetic alterations in and 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 in three oligodontia patients of family A, two novel sequence variants (c.207delinsTT, p.Gly70Trpfs*25 and c.1300T>G; p.Try434Gly) in 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 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.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms20215282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6862269PMC
October 2019

Absence of the TRIP13 c.1060C>T Mutation in Wilms Tumor Patients From Pakistan.

J Pediatr Hematol Oncol 2020 04;42(3):e128-e131

Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.

Background And Aim: Wilms tumor (WT) is the most common childhood malignant renal tumor. Germline mutations in several WT predisposition genes have been identified. However, the fundamental cause of most WT patients remains unexplained. Recently, a founder mutation, c.1060C>T (p. Arg254X) in a mitotic spindle checkpoint gene, TRIP13, was reported in 5 unrelated children with WT from the United Kingdom, of Pakistani descent from Azad Kashmir region. This observation suggests other children with WT in Pakistan may also harbor this mutation. We conducted the first study to assess the contribution of TRIP13 c.1060C>T mutation to WT in Pakistan.

Materials And Methods: Constitutional genomic DNA from 68 Pakistani individuals including unrelated WT cases (n=26) and one (n=10) or both (n=32) of their parent(s) were screened for the TRIP13 c.1060C>T mutation using DNA sequence analysis. We also included positive controls in the analyses.

Results: The median age of WT diagnosis was 3.0 years (range, 0.75 to 10). The TRIP13 c.1060C>T mutation was not found in any WT patient (n=26) or their parents (n=42). Twenty-four patients (92.4%) presented with unilateral tumor and 2 patients (7.7%) were diagnosed with synchronous bilateral WT. Thirteen patients (50%) reported parental consanguinity. Thirteen patients (50.0%) belonged to the Punjabi ethnicity and 1 patient (3.8%) had a Kashmiri background. Four patients (16.7%) reported a family history of WT or other malignancies. The predominant histologic subtype was stromal (46.2%). The majority of patients presented with >5 cm of tumor size (81%). None of the patients had a personal or family history of congenital anomalies, or associated genetic syndromes.

Conclusions: Our findings suggest that TRIP13 c.1060C>T mutation may be infrequent in Pakistani WT cases. Further evaluation of this mutation in a large number of WT patients of Kashmiri heritage and various ethnic backgrounds from Pakistan is warranted.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPH.0000000000001602DOI Listing
April 2020

Spectrum and prevalence of germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.

Hered Cancer Clin Pract 2019 11;17:27. Epub 2019 Sep 11.

2Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany.

Background: Pathogenic germline mutations in and () account for the majority of hereditary breast and/or ovarian cancers worldwide. To refine the spectrum of mutations and to accurately estimate the prevalence of mutation in the Pakistani population, we studied 539 breast cancer patients selected for family history and age of diagnosis.

Methods: Comprehensive screening for germline mutations was performed using state-of-the-art technologies.

Results: A total of 133 deleterious mutations were identified in 539 families (24.7%), comprising 110 in and 23 in . The prevalence of small-range mutations and large genomic rearrangements was 55.4% (36/65) for families with breast and ovarian cancer, 27.4% (67/244) for families with two or more cases of breast cancer, 18.5% (5/27) for families with male breast cancer, and 12.3% (25/203) for families with a single case of early-onset breast cancer. Nine mutations were specific to the Pakistani population. Eighteen mutations in and three in were recurrent and accounted for 68.2% (75/110) and 34.8% (8/23) of all identified mutations in and , respectively. Most of these mutations were exclusive to a specific ethnic group and may result from founder effects.

Conclusions: Our findings show that mutations account for one in four cases of hereditary breast/ovarian cancer, one in five cases of male breast cancer, and one in eight cases of early-onset breast cancer in Pakistan. Our study suggests genetic testing of an extended panel of 21 recurrent mutations for appropriately selected patients and their families in Pakistan.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13053-019-0125-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6737632PMC
September 2019

Developing the first halophytic turfgrasses for the urban landscape from native Arabian desert grass.

Environ Sci Pollut Res Int 2020 Nov 22;27(32):39702-39716. Epub 2019 Aug 22.

Department of Environmental Sciences, COMSATS University Islamabad, Vehari Campus, Islamabad, 61100, Pakistan.

Climate change is occurring and is influencing biological systems through augmented temperatures, more inconstant precipitation, and rising CO in the atmosphere. For sustainable landscaping, it was essential to assess the diversity of native/wild grasses and their suitability for turf and to combat the salinity problem in the region. For this purpose, a native halophytic grass, Aeluropus lagopoides, was investigated by conducting mowing tests on its ecotypes during the year 2014-2016 under desert climatic conditions. The research was carried out in two phases, i.e. Phase-I was for collection and establishment of ecotypes from various parts of UAE, while in Phase-II, mowing tests were conducted. During mowing tests, 50 ecotypes of A. lagopoides were given various mowing treatments (i.e. they were cut back at 1-, 2-, 3-, 4- and 5-cm heights) in field conditions. Significant differences were found among various ecotypes for different agronomic parameters such as ground cover, canopy stiffness, leaf number, clippings fresh and dry weights and internode length. Overall, the grass exhibited better performance at mowing heights of 3 and 4 cm, which are the standard mowing heights for turfgrasses. Ecotypes FA5, RA3, RUDA2, RUDA7 and RUADA1 of A. lagopoides showed the best performance against mowing shock and became the candidates for the turfgrass varieties from the native Arabian flora.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11356-019-06218-3DOI Listing
November 2020

Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families.

Int J Dermatol 2019 Aug 11;58(8):946-952. Epub 2019 May 11.

Institute of Biochemistry, University of Balochistan, Quetta, Pakistan.

Background: Autosomal recessive wooly hair/hypotrichosis is an inherited disorder of hair characterized by less dense, short, and tightly curled hair on the scalp and sometimes less dense to complete absence of eyebrows and eyelashes. Autosomal recessive wooly hair/hypotrichosis phenotypes are mostly associated with pathogenic sequence variants in LIPH and LPAR6 genes.

Methods: To find out the molecular basis of the disease, five families with autosomal recessive wooly hair/hypotrichosis were recruited for genetic analysis. Direct Sanger sequencing of LIPH and LPAR6 genes was carried out using BigDye chain termination chemistry. P2RY5 protein homology models were developed to study the effect of mutation on protein structure in a family having novel mutation.

Results: Sanger sequencing revealed a novel homozygous missense mutation (c.47A>T) in the LPAR6 gene in family A, while recurrent mutation (c.436G>A) was detected in the rest of the four families (B-E). Protein homology models for both native and mutant P2RY5 protein were developed to study the difference in subtle structural features because of Lys16Met (K16M) mutation. We observed that P2RY5 mutation results decrease in the number of ionic interactions detrimental to the protein stability. Protein modeling studies revealed that the novel mutation identified here decreased the number of ionic interactions by affecting physicochemical parameters of the protein, leading to an overall decrease in protein stability with no major secondary structural changes.

Conclusion: The molecular analysis further confirms the frequent involvement of LPAR6 in autosomal recessive wooly hair/hypotrichosis, while the bioinformatic study revealed that the missense mutation destabilizes the overall structure of P2RY5 protein.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.14480DOI Listing
August 2019