2025
Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly
Abdullah, Bharadwaj T, Javed S, Khan H, Acharya A, Ji W, Umm-e-Kalsoom, Ali H, Schrauwen I, Ahmad W, Lakhani S, Leal S. Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly. Genes 2025, 16: 1118. PMID: 41010063, PMCID: PMC12469399, DOI: 10.3390/genes16091118.Peer-Reviewed Original ResearchConceptsGenetic spectrumVariant c.Autosomal recessive modePolymorphic microsatellite markersConsanguineous Pakistani familyIn-frame deletion variantPostaxial polydactyly type ANonsense variant c.Recessive mode of inheritanceMissense variant c.Autosomal recessive mode of inheritanceMicrosatellite markersMode of inheritancePostaxial polydactylyPakistani familyExome sequencingNonsense variantDeletion variantsSanger sequencingDeletion c.MissensePapBVariantsSequenceExtra digitsImpacts of chronic suicidal ideation on parenting and child development: A longitudinal mother-child cohort study in Pakistan
Hagaman A, Frost A, Sanborn K, Zhou Y, Gallis J, Turner E, Sikander S, Rahman A, Bates L, Saeed G, Mumtaz S, Bibi A, Malik A, Maselko J. Impacts of chronic suicidal ideation on parenting and child development: A longitudinal mother-child cohort study in Pakistan. Social Science & Medicine 2025, 383: 118463. PMID: 40763404, PMCID: PMC12392297, DOI: 10.1016/j.socscimed.2025.118463.Peer-Reviewed Original ResearchConceptsIntergenerational transmissionIntimate partner violenceMaternal educational attainmentPartner violenceSuicidal ideationSI trajectoryYears of child ageEducational attainmentFine motor developmentSocioemotional scoresMiddle-income countriesMother-childChild developmentMother-child cohort studySocioemotional outcomesMotor developmentSuicide prevention programsLongitudinal trajectoriesMother-child dyadsChronic suicidal ideationSuicidal ideation groupChild ageMaternal depressionYear postpartumLinear mixed effects models
2024
Identification of Gender Differences in Acute Myocardial Infarction Presentation and Management at Aga Khan University Hospital-Pakistan: Natural Language Processing Application in a Dataset of Patients With Cardiovascular Disease
Ngaruiya C, Samad Z, Tajuddin S, Nasim Z, Leff R, Farhad A, Pires K, Khan M, Hartz L, Safdar B. Identification of Gender Differences in Acute Myocardial Infarction Presentation and Management at Aga Khan University Hospital-Pakistan: Natural Language Processing Application in a Dataset of Patients With Cardiovascular Disease. JMIR Formative Research 2024, 8: e42774. PMID: 39705071, PMCID: PMC11699486, DOI: 10.2196/42774.Peer-Reviewed Original ResearchConceptsAMI symptomsAcute myocardial infarctionNatural language processingTertiary care hospitalAssess gender differencesCare hospitalAcute myocardial infarction presentationsMiddle-income countriesIdentification of gender differencesPrimary discharge diagnosisGender differencesMyocardial infarction presentationManagement of patientsNatural language processing applicationsDisproportionate burdenFuzzy matching techniqueHigher oddsLanguage processing applicationsDischarge summariesMedication prescriptionsClinical priorityIschemic heart diseaseDischarge diagnosisLMICsPrescribed statinsTrauma exposure among young children in rural Pakistan: Associations with gender, mental health, and cognitive skills
Frost A, Collins A, Chung E, Escobar Carias M, Hagaman A, Gupta S, Bibi A, Sikander S, Maselko J. Trauma exposure among young children in rural Pakistan: Associations with gender, mental health, and cognitive skills. BMC Psychology 2024, 12: 454. PMID: 39183356, PMCID: PMC11346172, DOI: 10.1186/s40359-024-01944-x.Peer-Reviewed Original ResearchConceptsChild mental healthMental healthLow-resource settingsAssociated with increased mental health difficultiesRural PakistanMental health difficultiesTrauma exposureMental health problemsStrength of associationSample of mother-child dyadsIncreased anxiety scoresChildren's lifetime exposureTrauma-informed interventionsMother-child dyadsCognitive healthAssociated with genderHealth difficultiesBackgroundThe burdenAnxiety scoresHealth problemsHealthLifetime exposureExperience traumaChildren's cognitive skillsCognitive skillsComprehensive profiling of social mixing patterns in resource poor countries: A mixed methods research protocol
Aguolu O, Kiti M, Nelson K, Liu C, Sundaram M, Gramacho S, Jenness S, Melegaro A, Sacoor C, Bardaji A, Macicame I, Jose A, Cavele N, Amosse F, Uamba M, Jamisse E, Tchavana C, Briones H, Jarquín C, Ajsivinac M, Pischel L, Ahmed N, Mohan V, Srinivasan R, Samuel P, John G, Ellington K, Joaquim O, Zelaya A, Kim S, Chen H, Kazi M, Malik F, Yildirim I, Lopman B, Omer S. Comprehensive profiling of social mixing patterns in resource poor countries: A mixed methods research protocol. PLOS ONE 2024, 19: e0301638. PMID: 38913670, PMCID: PMC11195963, DOI: 10.1371/journal.pone.0301638.Peer-Reviewed Original ResearchConceptsLow-and-middle-income countriesData collection toolHousehold membersBurden of communicable diseasesCollection toolLow-and-middle-incomeDisease prevention strategiesInteraction dataPatterns of social mixingSocial mixingParameterizing mathematical modelsResource poor countriesPoor countriesCognitive interviewsLMIC populationsDisproportionate burdenQuantitative dataCommunicable diseasesStudy sitesPrevention strategiesContact diariesGroup discussionsStudy proceduresStudy toolDisease modelsChildhood parental bonding and depression in adulthood: A study of mothers in rural Pakistan
Frost A, Hagaman A, Bibi A, Bhalotra S, Chung E, Haight S, Sikander S, Maselko J. Childhood parental bonding and depression in adulthood: A study of mothers in rural Pakistan. Journal Of Affective Disorders 2024, 356: 715-721. PMID: 38663557, PMCID: PMC11103589, DOI: 10.1016/j.jad.2024.04.090.Peer-Reviewed Original ResearchConceptsParental Bonding InstrumentStructured Clinical Interview for DSM DisordersRisk of depressionPsychological controlParenting behaviorsMental healthAssociated with decreased risk of depressionParent-child relationship qualityMeasures of parental controlAssociated with increased risk of depressionDepression in adulthoodRural PakistanMental health of childrenBehavioral controlRetrospective self-reportsMothers' parenting behaviorImpact of parenting behaviorsChild mental healthChildhood parental bondingAssociated with decreased riskHealth of childrenCross-sectional studyAssociated with increased riskDSM disordersAdulthood depressionAlcohol use, alcohol use disorder and heavy episodic drinking in the Eastern Mediterranean region: A systematic review
Rostam‐Abadi Y, Gholami J, Shadloo B, Aghaei A, Jobehdar M, Ardeshir M, Sangchooli A, Amin‐Esmaeili M, Taj M, Saeed K, Rahimi‐Movaghar A. Alcohol use, alcohol use disorder and heavy episodic drinking in the Eastern Mediterranean region: A systematic review. Addiction 2024, 119: 984-997. PMID: 38356084, DOI: 10.1111/add.16444.Peer-Reviewed Original ResearchConceptsAdult general populationGeneral populationAlcohol useEastern Mediterranean RegionWorld Health OrganizationAlcohol use disorderPrevalence of alcohol use disordersYoung general populationHealth OrganizationEastern Mediterranean countriesPatterns of alcohol usePublic health impactUse disorderHeavy episodic drinkingEstimates of alcoholAlcohol consumptionPooled prevalencePooled estimatesSystematic reviewHealth impactsEpisodic drinkingHeavy drinkingSubstance useTreatment-seeking peoplePrevalence
2023
A phubbing scale tested in Bangladesh, Iran, and Pakistan: confirmatory factor, network, and Rasch analyses
Lin C, Mamun M, Mamun F, Ullah I, Hosen I, Malik N, Fatima A, Poorebrahim A, Pourgholami M, Potenza M, Pakpour A. A phubbing scale tested in Bangladesh, Iran, and Pakistan: confirmatory factor, network, and Rasch analyses. BMC Psychiatry 2023, 23: 763. PMID: 37853354, PMCID: PMC10583412, DOI: 10.1186/s12888-023-05251-4.Peer-Reviewed Original ResearchAssessing the effectiveness of COVID-19 vaccines in Pakistan: A test-negative case-control study
Nisar M, Ansari N, Malik A, Shahid S, Lalani K, Chandna M, Younus A, Hasan Z, Khan U, Khalid F, Mahesar M, Farrukh Qazi M, Yildirim I, Jehan F, Omer S. Assessing the effectiveness of COVID-19 vaccines in Pakistan: A test-negative case-control study. Journal Of Infection 2023, 86: e144-e147. PMID: 36708775, PMCID: PMC9876011, DOI: 10.1016/j.jinf.2023.01.016.Peer-Reviewed Original Research
2022
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family
Gauhar Z, Tejwani L, Abdullah U, Saeed S, Shafique S, Badshah M, Choi J, Dong W, Nelson-Williams C, Lifton RP, Lim J, Raja GK. A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family. Cells 2022, 11: 3090. PMID: 36231052, PMCID: PMC9564319, DOI: 10.3390/cells11193090.Peer-Reviewed Original ResearchConceptsAutosomal recessive cerebellar ataxiaCerebellar ataxiaProgressive gait ataxiaMagnetic resonance imagingT mutationHeterogeneous rare disordersNovel homozygous missense mutationWhole-exome sequencingMissense mutationsGait ataxiaMovement disordersDifferential diagnosisRare disorderCerebellar atrophyHomozygous missense mutationConsanguineous Pakistani familyNovel missense mutationResonance imagingBody imbalanceExome sequencingYoung adultsHomozygous mutationPakistani familyAtaxiaType AStressful life events, intimate partner violence, and perceived stress in the postpartum period: longitudinal findings in rural Pakistan
Haight SC, Gallis JA, Chung EO, Baranov V, Bibi A, Frost A, Hagaman A, Sikander S, Maselko J, Bates LM. Stressful life events, intimate partner violence, and perceived stress in the postpartum period: longitudinal findings in rural Pakistan. Social Psychiatry And Psychiatric Epidemiology 2022, 57: 2193-2205. PMID: 36050505, PMCID: PMC10084399, DOI: 10.1007/s00127-022-02354-3.Peer-Reviewed Original ResearchNon-linear associations between HPA axis activity during infancy and mental health difficulties during early childhood among children in rural Pakistan.
Frost A, Hagaman A, Baranov V, Chung EO, Bhalotra S, Sikander S, Maselko J. Non-linear associations between HPA axis activity during infancy and mental health difficulties during early childhood among children in rural Pakistan. Development And Psychopathology 2022, 35: 2086-2095. PMID: 35959681, PMCID: PMC9922341, DOI: 10.1017/s0954579422000773.Peer-Reviewed Original ResearchConceptsHPA axis activityMental health difficultiesAxis activityHealth difficultiesEarly childhoodHypothalamic pituitary adrenal axis activityPituitary-adrenal axis activitySDQ scoresAdrenal axis activityNon-linear associationLongitudinal cohortDepression trialsQuadratic associationHair cortisolDehydroepiandosteroneRural PakistanMental healthCortisolEarly adversitySignificant quadratic associationDifficulties QuestionnaireLow-resource contextsChildhoodChildrenAssociationAdverse childhood experiences and implications of perceived stress, anxiety and cortisol among women in Pakistan: a cross-sectional study
Ikram N, Frost A, LeMasters K, Hagaman A, Baranov V, Gallis J, Sikander S, Scherer E, Maselko J. Adverse childhood experiences and implications of perceived stress, anxiety and cortisol among women in Pakistan: a cross-sectional study. BMJ Open 2022, 12: e052280. PMID: 35428618, PMCID: PMC9014037, DOI: 10.1136/bmjopen-2021-052280.Peer-Reviewed Original ResearchA Nationwide Virtual Research Education Program for Medical Students in Pakistan: Methodological Framework, Feasibility Testing, and Outcomes
Noorali A, Inam M, Shahbaz H, Rauf H, Aamir F, Khalid F, Abbas S, Saeed A, Musharraf M, Merchant A, Hasan B, Rasheed M, Jehan F, Tariq M, Haider A. A Nationwide Virtual Research Education Program for Medical Students in Pakistan: Methodological Framework, Feasibility Testing, and Outcomes. Frontiers In Public Health 2022, 9: 812130. PMID: 35083193, PMCID: PMC8784886, DOI: 10.3389/fpubh.2021.812130.Peer-Reviewed Original ResearchConceptsMedical studentsConclusion:</b>Results:</b>Post-test formSelf-rated perceptionLow-middle income countriesPre-post changesResearch education programMedical traineesParticipants ParticipantsApplication of researchMethods:</b>Income countriesEducation programsLikert scaleLive workshopsPre-testLiterature searchSkills educationParticipantsMedical CollegeScientific evidenceResearch bioethicsSignificant improvementResearch skillsMultidimensional impacts of coronavirus pandemic in adolescents in Pakistan: A cross sectional research
Imran N, Naz F, Sharif M, Liaqat S, Riaz M, Khawar A, Azeem M. Multidimensional impacts of coronavirus pandemic in adolescents in Pakistan: A cross sectional research. PLOS ONE 2022, 17: e0262325. PMID: 34986208, PMCID: PMC8730410, DOI: 10.1371/journal.pone.0262325.Peer-Reviewed Original ResearchMother-in-law childcare and perinatal depression in rural Pakistan
Chung E, Hagaman A, Bibi A, Frost A, Haight S, Sikander S, Maselko J. Mother-in-law childcare and perinatal depression in rural Pakistan. Women's Health 2022, 18: 17455057221141288. PMID: 36468464, PMCID: PMC9726850, DOI: 10.1177/17455057221141288.Peer-Reviewed Original ResearchConceptsPerinatal depressionMaternal mental healthMonths postpartumMental healthImmediate postpartum periodFirst year postpartumStructured Clinical InterviewCross-sectional associationsHigh motherMental Disorders-IVYear postpartumLife Events ChecklistPostpartum periodMajor depressionPerinatal periodMaternal depressionLow prevalenceBirth cohortClinical InterviewLow motherPostpartumRural PakistanStatistical ManualDepressionMothers
2021
Respiratory Syncytial Virus–Associated Mortality Among Young Infants in Karachi, Pakistan: A Prospective Postmortem Surveillance Study
Kazi AM, Aguolu OG, Mughis W, Ahsan N, Jamal S, Khan A, Qureshi HM, Yildirim I, Malik FA, Omer SB. Respiratory Syncytial Virus–Associated Mortality Among Young Infants in Karachi, Pakistan: A Prospective Postmortem Surveillance Study. Clinical Infectious Diseases 2021, 73: s203-s209. PMID: 34472574, PMCID: PMC8411247, DOI: 10.1093/cid/ciab488.Peer-Reviewed Original ResearchConceptsRespiratory syncytial virusRespiratory symptomsInfant deathRSV seasonalityRole of RSVYoung infantsPresence of RSVMultivariable logistic regression analysisMaternal immunization strategiesSignificant mortality burdenVaccine-hesitant populationYoung infant deathsMultivariable logistic regressionCold-like symptomsSignificant predictorsLogistic regression analysisPostneonatal ageRSV mortalityRSV seasonMaternal immunizationInfant morbidityNasopharyngeal specimensNasopharyngeal swabsSyncytial virusRespiratory illnessUnderstanding HIV outbreak among children in a rural community of Sindh province of Pakistan.
Altaf A, Shah SA, Khanani R, Vermund SH. Understanding HIV outbreak among children in a rural community of Sindh province of Pakistan. Journal Of The Pakistan Medical Association 2021, 71(Suppl 4): s1-s4. PMID: 34469421, PMCID: PMC10768810.Peer-Reviewed Original ResearchMultisystem inflammatory syndrome (MIS-C) in Pakistani children: A description of the phenotypes and comparison with historical cohorts of children with Kawasaki disease and myocarditis
Mohsin S, Abbas Q, Chowdhary D, Khalid F, Sheikh A, Khan Z, Aslam N, Bhatti O, Inam M, Saleem A, Bhutta A. Multisystem inflammatory syndrome (MIS-C) in Pakistani children: A description of the phenotypes and comparison with historical cohorts of children with Kawasaki disease and myocarditis. PLOS ONE 2021, 16: e0253625. PMID: 34153080, PMCID: PMC8216534, DOI: 10.1371/journal.pone.0253625.Peer-Reviewed Original ResearchConceptsWorld Health Organization criteriaMIS-CMultisystem inflammatory syndromeViral myocarditisKawasaki diseaseHistorical cohortIntravenous immunoglobulinInflammatory syndromeMIS-C.Coronary involvementModerate to severe left ventricular dysfunctionHistorical cohort of childrenSevere left ventricular dysfunctionOutcomes of multisystem inflammatory syndromeLeft ventricular dysfunctionMIS-C groupMIS-C cohortTertiary care centerFrequent atypical presentationCohort of childrenLaboratory featuresVentricular dysfunctionFulminant myocarditisMedian ageAtypical presentationChallenges of Antiretroviral Treatment for Human Immunodeficiency Virus Infection in Pakistan.
Shah SA, Altaf A, Vermund SH. Challenges of Antiretroviral Treatment for Human Immunodeficiency Virus Infection in Pakistan. Journal Of The Pakistan Medical Association 2021, 71: 788-790. PMID: 34057921, PMCID: PMC10768808.Peer-Reviewed Original Research
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