• 제목/요약/키워드: HAQ

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Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified dentified in Breast Cancer Patients from Balochistan

  • Baloch, Abdul Hameed;Khosa, Ahmad Nawaz;Bangulzai, Nasrullah;Shuja, Jamila;Naseeb, Hafiz Khush;Jan, Mohammad;Marghazani, Illahi Bakhsh;Kakar, Masood-ul-Haq;Baloch, Dost Mohammad;Cheema, Abdul Majeed;Ahmad, Jamil
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권3호
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    • pp.1089-1092
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    • 2016
  • Breast cancer is the most commonly occurring and leading cause of cancer deaths among women globally. Hereditary cases account 5-10% of all the cases and CHEK2 is considered as a moderate penetrance breast cancer risk gene. CHEK2 plays a crucial role in response to DNA damage to promote cell cycle arrest and repair DNA damage or induce apoptosis. Our objective in the current study was to analyze mutations in the CHEK2 gene related to breast cancer in Balochistan. A total of 271 individuals including breast cancer patients and normal subjects were enrolled. All 14 exons of CHEK2 were amplified and sequenced. The majority of the patients (>95%) had invasive ductal carcinomas (IDCs), 52.1% were diagnosed with tumor grade III and 56.1% and 27.5% were diagnosed with advance stages III and IV. Two novel nonsense variants i.e. c.58C>T (P.Q20X) and c.256G>T (p.E85X) at exon 1 and 2 in two breast cancer patients were identified in the current study. Both the variants identified were novel and have not been reported elsewhere.

Risk Factors for Lung Cancer in the Pakistani Population

  • Luqman, Muhammad;Javed, Muhammad Mohsin;Daud, Shakeela;Raheem, Nafeesa;Ahmad, Jamil;Khan, Amin-Ul-Haq
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권7호
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    • pp.3035-3039
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    • 2014
  • Background: Lung cancer is one of the most prevalent malignancies in the world and both incidence and mortality rates are continuing to rise in Pakistan. However, epidemiological studies to identify common lung cancer determinants in the Pakistani population have been limited. Materials and Methods: In this retrospective case-control study, 400 cases and 800 controls were enrolled from different hospitals of all provinces of Pakistan. Information about socio-demographic, occupational, lifestyle and dietary variables was extracted by questionnaire from all subjects. Odd ratios (ORs) and 95% confidence intervals (CIs) were calculated. and dose-response associations were also assessed for suitable factors. Results: Strong associations were observed for smoking (OR=9.4, 95%CI=6.9-12.8), pesticide exposure (OR=5.1, 95%CI=3.1-8.3), exposure to diesel exhaust (OR=3.1, 95%CI=2.1-4.5), red meat consumption (OR=2.9, 95%CI=1.8-4.7) and chicken consumption (OR=2.8, 95%CI=1.7-49). Other associated factors observed were welding fumes (OR=2.5, 95%CI=1.0-6.5), sedentary living (OR=2.0, 95%CI=1.6-2.6), family history (OR=2.0, 95%CI=0.8-4.9), wood dust (OR=1.9, 95%CI=1.2-3.1), tea consumption (OR=1.8, 95%CI=1.2-2.6), coffee consumption (OR=1.8, 95%CI=1.1-2.8), alcoholism (OR=1.7, 95%CI=1.1-2.5) and asbestos exposure(OR=1.5, 95%CI=0.5-4.4). Consumption of vegetables (OR=0.3, 95%CI=0.2-0.4), juices (OR=0.3, 95%CI=0.3-0.4), fruits (OR=0.7, 95%CI=0.5-0.9) and milk (OR=0.6, 95%CI=0.5-0.8) showed reduction in risk of lung cancer. Strongest dose-response relationships were observed for smoking ($X^2=333.8$, $p{\leq}0.0000001$), pesticide exposure ($X^2=50.9$, $p{\leq}0.0000001$) and exposure to diesel exhaust ($X^2=51.8$, $p{\leq}0.0000001$). Conclusions: Smoking, pesticide exposure, diesel exhaust and meat consumption are main lung cancer determinants in Pakistan. Consuming vegetables, fruits, milk and juices can reduce the risk of lung cancer risk, as in other countries.

Cross Sectional Assessment of Health Related Quality of Life (HRQoL) among Patients with Cancer in Malaysia

  • Farooqui, Maryam;Hassali, Mohamed Azmi;Knight, Aishah;Shafie, Asrul Akmal;Farooqui, Muhammad Aslam;Saleem, Fahad;ul Haq, Noman;Othman, Che Noriah;Aljadhey, Hisham
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권5호
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    • pp.3017-3021
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    • 2013
  • Background: Health Related Quality of Life (HRQoL) is an important aspect in identifying cancer patients' perceptions of being diagnosed with cancer and the assessment of treatment outcomes. The present study aimedto assess the profile and predicators of HRQoL of Malaysian oncology patients. Materials and Methods: A cross sectional study adopting the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ-C30) was conducted. All cancer patients attending Penang General Hospital between August-November 2011 were approached. Descriptive statistics were used to assess demographic and disease related characteristics of the patients. All analyses were performed using SPSS v 16.0. Results: Three hundred and ninety three cancer patients met the inclusion criteria and were enrolled in the study. The mean age was 53.9 ($SD{\pm}13$) years. The cohort was dominated by females (n=260, 66.2%). Nearly half (n=190, 48.3%) of the participants were of Malay ethnicity, practicing Islam as their religion (n=194, 494%). Two hundred and ninety six (n=296, 75.3%) had beene diagnosed with cancer within six months to 3 years previously. The most common primary cancer site was breast (n=143, 36.4%). The mean Global Health Status (GHS) score was 60.7 (SD=21.3). Females (mean GHS score of 62.3, p=0.035) with Malay ethnicity (mean GHS score of 63.8, p=0.047), practicing Islam as their religion (mean GHS score of 63.0, p=0.011) had better GHS scores. Patients having medical insurance had good scores (mean 65.6, p-0.021). Marital status was significantly associated with GHS scores (p=0.022). Bone cancer patientshad the lowest mean GHS score of 49.2 (p=0.044). Patients at very advanced stages of cancer featured a low GHS mean score of 52.2 (p<0.001). Conclusions: The present study identified many demographic and disease related factors which may contribute to the HRQoL of cancer patients, pointing to the necessity for improved management of disease symptoms and provision of psychological and financial support.

슬관절의 통증과 기능장애의 평가도구에 관한 연구 (The Research of Pain and Functional Disability Assessment Scales for Knee Joint Disease)

  • 정찬영;김은정;황민섭;조현석;김경호;이승덕;김갑성
    • Journal of Acupuncture Research
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    • 제27권2호
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    • pp.123-142
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    • 2010
  • Objectives : The knee pain is the main reason of getting acupuncture treatment. In order to have confidence in the results of a study, it is necessary to establish that questionnaire is both valid and reliable in questionnaire related study. The aim of this study was to review the instruments that are currently in sue for assessing the knee joint. Methods : A literature study was performed to choose appropriate scales for assessment for pain and the function of the knee. Theoretically based scales were selected for review. Therefore, 18 scales for knee and 9 scale for pain were reviewed. the status of scales involved in knee treatment of acupuncture throughout several countries was evaluated. Results & Conclusion : Lysholm Knee Scoring Scale, Cincinnati knee rating system(CKRS) are adequate for ligament injury in knee. International Knee Documentation Committee scoring system(IKDC) may become a publication requirement for journals in view of the international standing of the committee. The available outcome measure for use in osteoarthritis are Western Ontario and McMaster Universities Osteoarthritis Index(WOMAC), Lequesne Functional Severity Index(LFI) and Knee Injury and Osteoarthritis Outcome Score(KOOS), and in rheumatoid arthritis are McMaster-Toronto Arthritis patient function preference questionnaire(MACTAR), Quality of Life-Rheumatoid Arthritis Scale(QoL-RA Scale). Visual analog scale(VAS), verbal rating scale(VRS) are commonly used for the standard pain scale. For long term follow-up study The Medical Outcomes Study Short Form-36(SF-36), Arthritis Impact Measurement Scales(AIMS), Health Assessment Questionnaire(HAQ) should be included. Each measurement has its own composition and characteristics. Their validity, reliability, responsiveness and practical characteristics were already evaluated. We found 20 domestic and 28 overseas papers about knee treatment using acupuncture assessed with knee scales.

Changes in patterns of plastic surgery emergencies at a level I trauma center in India during the COVID-19 pandemic

  • Singh, Veena;Haq, Ansarul;Sharma, Sarsij;Kumar, Sanjeev;Kumar, Aditya;Kumar, Amarjeet;Kumar, Neeraj;Kumar, Anil
    • Journal of Trauma and Injury
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    • 제35권2호
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    • pp.108-114
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    • 2022
  • Purpose: The coronavirus disease 2019 (COVID-19) pandemic has had major effects worldwide, including sudden and forceful setbacks to the healthcare system. The COVID-19 pandemic has also led to changes in the plastic and reconstructive management of emergency cases, including those due to road traffic accidents. This study analyzed changes in patterns of plastic surgery emergencies and modifications in consultation policies to minimize the exposure of healthcare workers. Methods: Data on plastic surgery emergency calls received from the trauma and emergency department were collected for a period of 2 months before and during lockdown. The data were then analyzed with respect to the cause, mechanism, and site of the injury, as well as other variables. Results: During lockdown, there was a 40.4% overall decrease in the plastic surgery emergency case volume (168 vs. 100). The average daily number of consultations before lockdown was 2.8 as compared to 1.6 during lockdown. Road traffic accidents remained the most common mechanism of injury in both groups (45.8% vs. 39.0%) but decreased in number during the lockdown (77 vs. 39). Household accidents, including burns, were the second most common cause of injury in both phases (7.7% vs. 20.0%), but their proportion increased significantly from 7.7.% to 20.0% in the lockdown phase (P=0.003). The percentage of minor procedures done in the emergency department increased from 53.5% to 72.0% during lockdown (P=0.002). Procedures in the operating room decreased by 73.1% during lockdown (67 vs. 18, P=0.001). Conclusions: The COVID-19 pandemic and lockdown orders in India greatly influenced trends in traumatic emergencies as observed by the plastic surgery team at our tertiary care center. Amidst all the chaos and limitations of the pandemic period, providing safe and prompt care to the patients presenting to the emergency room was our foremost priority.

성인초기와 중년후기의 균형적 시간관과 주관적 안녕감과의 관계: 행복증진활동의 매개효과 (The Relationship between Balanced Time Perspective and Subjective Well-Being of The Early-aged Adult and Late Middle-aged Adult: the Mediation Effects of Happiness Enhancing Activities)

  • 이현서;정영숙
    • 한국심리학회지 : 문화 및 사회문제
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    • 제24권4호
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    • pp.615-636
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    • 2018
  • 본 연구는 균형적 시간관과 주관적 안녕감과의 관계에서 행복증진활동의 매개효과를 성인초기와 중년후기를 중심으로 분석하였다. 이를 위해 부산·경남에 거주하는 25세 이상 35세 이하의 성인초기 성인 192명과 55세 이상 65세 이하의 중년후기 성인 180명을 대상으로 균형적 시간관, 행복증진활동, 주관적 안녕감(삶의 만족도, 긍정정서 및 부정정서)을 측정하였다. 변인들 간의 매개효과 분석 결과, 성인초기와 중년후기 모두 균형적 시간관이 행복증진활동을 통해 주관적 안녕감에 유의한 정적 영향을 미치는 것으로 나타났다. 행복증진활동의 하위 유형으로 나눠서 살펴보면, 성인초기의 균형적 시간관과 주관적 안녕감의 관계에서 성취지향적 활동과 개인적 관계중심 활동의 매개효과가 유의하였고, 중년후기에서는 개인적 관계중심활동의 매개효과가 유의하였다. 본 연구는 성인초기와 중년후기 성인을 대상으로 과거와 현재, 미래의 '균형 잡힌' 시간관이 행복을 증진하기 위한 활동에 미치는 영향을 살펴보고, 세대 간에 나타나는 행복증진활동의 차이를 살펴보고자 했다는 점에서 의의가 있다.

Human Organic Anion Transporting Polypeptide 1B3 Applied as an MRI-Based Reporter Gene

  • Song-Ee Baek;Asad Ul-Haq;Dae Hee Kim;Hyoung Wook Choi;Myeong-Jin Kim;Hye Jin Choi;Honsoul Kim
    • Korean Journal of Radiology
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    • 제21권6호
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    • pp.726-735
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    • 2020
  • Objective: Recent innovations in biology are boosting gene and cell therapy, but monitoring the response to these treatments is difficult. The purpose of this study was to find an MRI-reporter gene that can be used to monitor gene or cell therapy and that can be delivered without a viral vector, as viral vector delivery methods can result in long-term complications. Materials and Methods: CMV promoter-human organic anion transporting polypeptide 1B3 (CMV-hOATP1B3) cDNA or CMV-blank DNA (control) was transfected into HEK293 cells using Lipofectamine. OATP1B3 expression was confirmed by western blotting and confocal microscopy. In vitro cell phantoms were made using transfected HEK293 cells cultured in various concentrations of gadoxetic acid for 24 hours, and images of the phantoms were made with a 9.4T micro-MRI. In vivo xenograft tumors were made by implanting HEK293 cells transfected with CMV-hOATP1B3 (n = 4) or CMV-blank (n = 4) in 8-week-old male nude mice, and MRI was performed before and after intravenous injection of gadoxetic acid (1.2 µL/g). Results: Western blot and confocal microscopy after immunofluorescence staining revealed that only CMV-hOATP1B3-transfected HEK293 cells produced abundant OATP1B3, which localized at the cell membrane. OATP1B3 expression levels remained high through the 25th subculture cycle, but decreased substantially by the 50th subculture cycle. MRI of cell phantoms showed that only the CMV-hOATP1B3-transfected cells produced a significant contrast enhancement effect. In vivo MRI of xenograft tumors revealed that only CMV-hOATP1B3-transfected HEK293 tumors demonstrated a T1 contrast effect, which lasted for at least 5 hours. Conclusion: The human endogenous OATP1B3 gene can be non-virally delivered into cells to induce transient OATP1B3 expression, leading to gadoxetic acid-mediated enhancement on MRI. These results indicate that hOATP1B3 can serve as an MRI-reporter gene while minimizing the risk of long-term complications.

Five Most Common Prognostically Important Fusion Oncogenes are Detected in the Majority of Pakistani Pediatric Acute Lymphoblastic Leukemia Patients and are Strongly Associated with Disease Biology and Treatment Outcome

  • Awan, Tashfeen;Iqbal, Zafar;Aleem, Aamer;Sabir, Noreen;Absar, Muhammad;Rasool, Mahmood;Tahir, Ammara H.;Basit, Sulman;Khalid, Ahmad Mukhtar;Sabar, Muhammad Farooq;Asad, Sultan;Ali, Agha Shabbir;Mahmood, Amer;Akram, Muhammad;Saeed, Tariq;Saleem, Arsalan;Mohsin, Danish;Shah, Ijaz Hussain;Khalid, Muhammad;Asif, Muhammad;Haq, Riazul;Iqbal, Mudassar;Akhtar, Tanveer
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권11호
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    • pp.5469-5475
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    • 2012
  • Background and Objectives: Acute lymphoblastic leukemia (ALL) is a complex genetic disease involving many fusion oncogenes (FO) having prognostic significance. The frequency of various FO can vary in different ethnic groups, with important implications for prognosis, drug selection and treatment outcome. Method: We studied fusion oncogenes in 101 pediatric ALL patients using interphase FISH and RT-PCR, and their associations with clinical features and treatment outcome. Results: Five most common fusion genes i.e. BCR-ABL t (22; 9), TCF3-PBX1 (t 1; 19), ETV6-RUNX1 (t 12; 21), MLL-AF4 (t 4; 11) and SIL-TAL1 (del 1p32) were found in 89/101 (88.1%) patients. Frequency of BCR-ABL was 44.5% (45/101). BCR-ABL positive patients had a significantly lower survival ($43.7{\pm}4.24$ weeks) and higher white cell count as compared to others, except patients with MLL-AF4. The highest relapse-free survival was documented with ETV6-RUNX1 (14.2 months) followed closely by those cases in which no gene was detected (13.100). RFS with BCR-ABL, MLL-AF4, TCF3-PBX1 and SIL-TAL1 was less than 10 months (8.0, 3.6, 5.5 and 8.1 months, respectively). Conclusions: This is the first study from Pakistan correlating molecular markers with disease biology and treatment outcome in pediatric ALL. It revealed the highest reported frequency of BCR-ABL FO in pediatric ALL, associated with poor overall survival. Our data indicate an immediate need for incorporation of tyrosine kinase inhibitors in the treatment of BCR-ABL+ pediatric ALL in this population and the development of facilities for stem cell transplantation.