Pub Date : 2019-07-20DOI: 10.46903/gjms/16.03.1932
Muhammad Sharjeel
PERSISTENT PUPILLARY MEMBRANE A 12 years old girl from D.I.Khan city, Pakistan presented with diminished vision. On examination her vision was 6/60 in both eyes, not improving with glasses. The intra-ocular pressure was 15 mmHg in both eyes. Both the corneas were clear and pupils were round, and reactive to light. There was pupillary membrane covering the entire pupil in undilated state. After dilation, we took the picture shown. The persistent pupillary membrane is usually an innocuous finding diagnosed on routine slit-lamp examination but in this case, it was adherent to the anterior lens capsule causing anterior capsular cataract, affecting the visual acquity.
{"title":"PERSISTENT PUPILLARY MEMBRANE","authors":"Muhammad Sharjeel","doi":"10.46903/gjms/16.03.1932","DOIUrl":"https://doi.org/10.46903/gjms/16.03.1932","url":null,"abstract":"PERSISTENT PUPILLARY MEMBRANE A 12 years old girl from D.I.Khan city, Pakistan presented with diminished vision. On examination her vision was 6/60 in both eyes, not improving with glasses. The intra-ocular pressure was 15 mmHg in both eyes. Both the corneas were clear and pupils were round, and reactive to light. There was pupillary membrane covering the entire pupil in undilated state. After dilation, we took the picture shown. The persistent pupillary membrane is usually an innocuous finding diagnosed on routine slit-lamp examination but in this case, it was adherent to the anterior lens capsule causing anterior capsular cataract, affecting the visual acquity.","PeriodicalId":44174,"journal":{"name":"Gomal Journal of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2019-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43526196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The biological samples used in forensics can contain DNA which is highly fragmented as a consequence of exposure to any of the numerous degrading factors. Analysis of the sequence or size of the products of Polymerase chain reaction is at present responsible for the analysis of remains of humans in forensics. Despite the effectiveness of protocols based on PCR, there are certain limitations that are presented by the low numbers of copies of the template and the variations that are imposed by the decaying process to the template. The primary aim of this research is to explore the significance of autosomal SNPs in forensic science through the identification of humans at a crime scene. This study provides an exploration of the applicability of autosomal SNPs for the identification of humans at crime scene. This would fill the gap present in the current literature regarding the significance of autosomal SNPs in the identification of humans during crime scene investigation. It will also enable the identification of the criminals involved in several types of the crimes ranging from general theft to rape and sexual assault, murder, and robberies. It will also allow the identification of dead bodies in cases where it is difficult to identify the dead person due to unrecognizable condition of the body. This study will facilitate the improvement of the investigation of crime scene investigators. It will provide a significant way for the incorporation of recent techniques of the molecular genetics into forensics. Reduction in the workload of the crime scene investigators would also occur through the implementation of outcomes of this study into the field of forensic science. There are several studies which have demonstrated the applicability of SNPs in forensic investigations for identifying the humans at crime scene. Several effective and efficient technological systems have been developed by the researchers which are capable of performing analysis of biological samples containing degraded DNA because SNPs can be obtained from these samples. Physical characteristics of the individuals can be predicted through the analysis of SNPs. This can provide significant information about the color of eye, hair and skin of the individuals involved in crime.
{"title":"RECENT TECHNIQUES BASED ON THE UTILIZATION OF DNA AND AUTOSOMAL SINGLE NUCLEOTIDE POLYMORPHISMS FOR IDENTIFYING HUMANS","authors":"F. Khatoon","doi":"10.46903/17.02.2022","DOIUrl":"https://doi.org/10.46903/17.02.2022","url":null,"abstract":"The biological samples used in forensics can contain DNA which is highly fragmented as a consequence of exposure to any of the numerous degrading factors. Analysis of the sequence or size of the products of Polymerase chain reaction is at present responsible for the analysis of remains of humans in forensics. Despite the effectiveness of protocols based on PCR, there are certain limitations that are presented by the low numbers of copies of the template and the variations that are imposed by the decaying process to the template. The primary aim of this research is to explore the significance of autosomal SNPs in forensic science through the identification of humans at a crime scene. This study provides an exploration of the applicability of autosomal SNPs for the identification of humans at crime scene. This would fill the gap present in the current literature regarding the significance of autosomal SNPs in the identification of humans during crime scene investigation. It will also enable the identification of the criminals involved in several types of the crimes ranging from general theft to rape and sexual assault, murder, and robberies. It will also allow the identification of dead bodies in cases where it is difficult to identify the dead person due to unrecognizable condition of the body. This study will facilitate the improvement of the investigation of crime scene investigators. It will provide a significant way for the incorporation of recent techniques of the molecular genetics into forensics. Reduction in the workload of the crime scene investigators would also occur through the implementation of outcomes of this study into the field of forensic science. There are several studies which have demonstrated the applicability of SNPs in forensic investigations for identifying the humans at crime scene. Several effective and efficient technological systems have been developed by the researchers which are capable of performing analysis of biological samples containing degraded DNA because SNPs can be obtained from these samples. Physical characteristics of the individuals can be predicted through the analysis of SNPs. This can provide significant information about the color of eye, hair and skin of the individuals involved in crime.","PeriodicalId":44174,"journal":{"name":"Gomal Journal of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2019-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49075660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-06-30DOI: 10.46903/GJMS/17.02.2029
M. Butt, M. Rehman, A. Khan, A. Abrar
Background: Coronary artery disease is a major cause of morbidity and mortality globally as well as in Pakistan. The objective of the study was to compare the frequency of triple-vessel coronary artery disease (triple-vessel CAD) in adult type 2 diabetics versus non-diabetics in coronary artery disease (CAD) population of Islamabad, Pakistan. Materials and Methods: This cross-sectional study was conducted in Department of Cardiology, Pakistan Institute of Medical Sciences, Islamabad, Pakistan from June 21, 2016 to December 20, 2016. 300 patients were selected from population including adult CAD patients who were candidates for coronary angiography. Those with conduction defects, renal failure and prior CABG surgery were excluded. 150 diabetics and 150 non-diabetics were subjected to coronary angiography. Age, sex and presence of triple-vessel CAD were research variables. Age was analyzed by mean and SD while sex and presence of triple-vessel CAD were analyzed by count and percentage for each group separately. Confidence interval for proportion was calculated at 80% confidence level for each group. Frequency of presence of triple-vessel CAD in two groups was compared using McNemar chi-square test at alpha 0.5. Results: Mean age was 55.02±8.48 for diabetics and 54.02±24.4 years for non-diabetics. Out of 300 patients with CAD, 184 (61.33%) were men and 116 (38.67%) were women. Triple-vessel CAD was present in 60/150 (40%) cases in diabetics and in 3/150 (2%) cases in non-diabetics. Frequency of triple-vessel CAD was significantly higher in adult type 2 diabetics versus non-diabetics in CAD population of Islamabad, Pakistan (p
{"title":"FREQUENCY OF TRIPLE-VESSEL CORONARY ARTERY DISEASE IN ADULT TYPE 2 DIABETICS VERSUS NON-DIABETICS IN CORONARY ARTERY DISEASE POPULATION OF ISLAMABAD, PAKISTAN","authors":"M. Butt, M. Rehman, A. Khan, A. Abrar","doi":"10.46903/GJMS/17.02.2029","DOIUrl":"https://doi.org/10.46903/GJMS/17.02.2029","url":null,"abstract":"Background: Coronary artery disease is a major cause of morbidity and mortality globally as well as in Pakistan. The objective of the study was to compare the frequency of triple-vessel coronary artery disease (triple-vessel CAD) in adult type 2 diabetics versus non-diabetics in coronary artery disease (CAD) population of Islamabad, Pakistan. Materials and Methods: This cross-sectional study was conducted in Department of Cardiology, Pakistan Institute of Medical Sciences, Islamabad, Pakistan from June 21, 2016 to December 20, 2016. 300 patients were selected from population including adult CAD patients who were candidates for coronary angiography. Those with conduction defects, renal failure and prior CABG surgery were excluded. 150 diabetics and 150 non-diabetics were subjected to coronary angiography. Age, sex and presence of triple-vessel CAD were research variables. Age was analyzed by mean and SD while sex and presence of triple-vessel CAD were analyzed by count and percentage for each group separately. Confidence interval for proportion was calculated at 80% confidence level for each group. Frequency of presence of triple-vessel CAD in two groups was compared using McNemar chi-square test at alpha 0.5. Results: Mean age was 55.02±8.48 for diabetics and 54.02±24.4 years for non-diabetics. Out of 300 patients with CAD, 184 (61.33%) were men and 116 (38.67%) were women. Triple-vessel CAD was present in 60/150 (40%) cases in diabetics and in 3/150 (2%) cases in non-diabetics. Frequency of triple-vessel CAD was significantly higher in adult type 2 diabetics versus non-diabetics in CAD population of Islamabad, Pakistan (p","PeriodicalId":44174,"journal":{"name":"Gomal Journal of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2019-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46990184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A 16 years old boy presented with three months history of left inguinal hernia. On examination, he had two normal testicles in scrotum, one on either side. During left inguinal exploration for hernia repair, a third undescended testicle was found incidentally, which was excised.
{"title":"POLYORCHIDISM DISCOVERED AS AN INCIDENTAL FINDING IN 16 YEARS BOY DURING LEFT INGUINAL HERNIOTOMY","authors":"S. Falah","doi":"10.46903/17.02.2035","DOIUrl":"https://doi.org/10.46903/17.02.2035","url":null,"abstract":"A 16 years old boy presented with three months history of left inguinal hernia. On examination, he had two normal testicles in scrotum, one on either side. During left inguinal exploration for hernia repair, a third undescended testicle was found incidentally, which was excised.","PeriodicalId":44174,"journal":{"name":"Gomal Journal of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2019-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48231526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nutritional status of an individual generally depends on two factors; external factors including food safety, cultural, political & socio-economic and internal factors such as sex, age, behavior, physical activity, nutrition and overall health. Nutritional status of a community is the sum total of the nutritional statuses of the individuals residing in that particular community. Nutritional assessment is a detailed investigation ideally by a physician and a dietician to identify and quantify clinically relevant malnutrition. Nutritional management as a result of nutritional screening & assessment effectively reduces the risk of morbidity and mortality among communities. Nutritional screening involves two methods: directly through objective criteria from individuals and indirectly using community health and nutritional indices.
{"title":"ABCDE OF COMMUNITY NUTRITIONAL ASSESSMENT","authors":"I. Ahmad","doi":"10.46903/17.02.2059","DOIUrl":"https://doi.org/10.46903/17.02.2059","url":null,"abstract":"Nutritional status of an individual generally depends on two factors; external factors including food safety, cultural, political & socio-economic and internal factors such as sex, age, behavior, physical activity, nutrition and overall health. Nutritional status of a community is the sum total of the nutritional statuses of the individuals residing in that particular community. Nutritional assessment is a detailed investigation ideally by a physician and a dietician to identify and quantify clinically relevant malnutrition. Nutritional management as a result of nutritional screening & assessment effectively reduces the risk of morbidity and mortality among communities. Nutritional screening involves two methods: directly through objective criteria from individuals and indirectly using community health and nutritional indices.","PeriodicalId":44174,"journal":{"name":"Gomal Journal of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2019-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45322284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-06-30DOI: 10.46903/gjms/17.02.1870
F. Bari, Sajjad Ahmad, Hamzullah Khan
Background: Nosocomial infections are major health issues in developing as well as developed countries. The objective of this study was to determine the frequency of MBL production in Pseudomnas aeruginosa that causes resistance to Imipenem and other ß-lactam antibiotics. Materials & Methods: A sample of 52 Imipenem resistant Pseudomnas aeruginosa colonizing or infecting the hospitalized patients were collected in Department of Pathology, Post Graduate Medical Institute, Lady Reading Hospital, Peshawar from June 2014 till May 2016. The organisms were identified by routine laboratory tests including biochemical methods and API NE System (Biomeriux) and the sensitivity pattern of commonly used antibiotics was established for each of these isolates using the disc diffusion method. Imipenem resistant strains were tested for MBL production by Imipenem-EDTA disc diffusion method. Results: The frequency of MBL activity was positive in 39 (75%) cases of Pseudomnas aeruginosa which encodes resistance to Imipenem and other ß-lactam antibiotics except monobactam. The sensitivity pattern of these antibiotics was as follows: piperacillin/ tazobactam 30.8%, amikacin and polymyxin B each 17.9%, tobramycin 12.8%, cefoperazone/ sulbactam and ceftazidime each 5.1%, ciprofloxacin, moxifloxacin, colistin sulphate, tetracycline, azithromycin and aztreonam each 2.6% and co-trimoxzole, gentamicin & rifampin each 0%. Conclusion: MBL production in P. aeruginosa confers a challenge for clinicians to treat such resistant infections with conventional antibiotics. Therefore testing each Imipenem resistant Pseudomnas aeruginosa for MBL production must be taken in routine consideration.
{"title":"METALLO-ß-LACTAMASE PRODUCTION IN IMIPENEM RESISTANT STRAINS OF PSEUDOMONAS AERUGINOSA","authors":"F. Bari, Sajjad Ahmad, Hamzullah Khan","doi":"10.46903/gjms/17.02.1870","DOIUrl":"https://doi.org/10.46903/gjms/17.02.1870","url":null,"abstract":"Background: Nosocomial infections are major health issues in developing as well as developed countries. The objective of this study was to determine the frequency of MBL production in Pseudomnas aeruginosa that causes resistance to Imipenem and other ß-lactam antibiotics. Materials & Methods: A sample of 52 Imipenem resistant Pseudomnas aeruginosa colonizing or infecting the hospitalized patients were collected in Department of Pathology, Post Graduate Medical Institute, Lady Reading Hospital, Peshawar from June 2014 till May 2016. The organisms were identified by routine laboratory tests including biochemical methods and API NE System (Biomeriux) and the sensitivity pattern of commonly used antibiotics was established for each of these isolates using the disc diffusion method. Imipenem resistant strains were tested for MBL production by Imipenem-EDTA disc diffusion method. Results: The frequency of MBL activity was positive in 39 (75%) cases of Pseudomnas aeruginosa which encodes resistance to Imipenem and other ß-lactam antibiotics except monobactam. The sensitivity pattern of these antibiotics was as follows: piperacillin/ tazobactam 30.8%, amikacin and polymyxin B each 17.9%, tobramycin 12.8%, cefoperazone/ sulbactam and ceftazidime each 5.1%, ciprofloxacin, moxifloxacin, colistin sulphate, tetracycline, azithromycin and aztreonam each 2.6% and co-trimoxzole, gentamicin & rifampin each 0%. Conclusion: MBL production in P. aeruginosa confers a challenge for clinicians to treat such resistant infections with conventional antibiotics. Therefore testing each Imipenem resistant Pseudomnas aeruginosa for MBL production must be taken in routine consideration.","PeriodicalId":44174,"journal":{"name":"Gomal Journal of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2019-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44372929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Hussain, W. Bangash, Muhammad I. Khan, M. Ali, A. Khan, Muhammad Ibrahim
Background: Children with cleft palate oftenly present with otitis media with effusion. The objective of this study was to determine the frequency of otitis media with effusion among cleft palate children. Material & Methods: This cross-sectional study was carried out in the Department of ENT, Pakistan Institute of Medical Sciences, Islamabad, Pakistan from June 2017 to December 2018. Ninety patients were selected through consecutive sampling technique. All children 3-10 years of age with cleft palate were included. Patients with combined cleft palate and cleft lip were excluded. All patients underwent otoscopy and tympanometry. Type B tympanogram was considered as evidence of fluid in the middle ear. Later on patients with only Type B tympanogram underwent myringotomies. Results: Out of 90 (180 ears) patients 61 (67.78%) were males and 29 (32.22%) females. Mean age of the sample was 6.15±2.226 years (3-10, range 7 years). On otoscopic examination, 107/180 (59.45%) ears were suspected to have fluid in the middle ear. Type B tympanogram was detected in 125/180 (69.45%) ears. Only 38/90 (42.20%) patients (76/180 ears), underwent pure tone audiometry. Based on otoscopic, tympanometric and audiometric findings, myringotomies were performed in 125/180 (69.45%) ears. At myringotomy fluid was present in middle ear space of 98/180 (78.4%) ears. Out of total 180 ears the true frequency of otitis media with effusion was 98/180 (54.45%). Conclusions: The frequency of otitis media with effusion in patients with cleft palate is high. Tympanometry is fairly sensitive in diagnosing this condition in these patients.
{"title":"FREQUENCY OF OTITIS MEDIA WITH EFFUSION IN CLEFT PALATE CHILDREN","authors":"A. Hussain, W. Bangash, Muhammad I. Khan, M. Ali, A. Khan, Muhammad Ibrahim","doi":"10.46903/17.02.2052","DOIUrl":"https://doi.org/10.46903/17.02.2052","url":null,"abstract":"Background: Children with cleft palate oftenly present with otitis media with effusion. The objective of this study was to determine the frequency of otitis media with effusion among cleft palate children. \u0000Material & Methods: This cross-sectional study was carried out in the Department of ENT, Pakistan Institute of Medical Sciences, Islamabad, Pakistan from June 2017 to December 2018. Ninety patients were selected through consecutive sampling technique. All children 3-10 years of age with cleft palate were included. Patients with combined cleft palate and cleft lip were excluded. All patients underwent otoscopy and tympanometry. Type B tympanogram was considered as evidence of fluid in the middle ear. Later on patients with only Type B tympanogram underwent myringotomies. \u0000Results: Out of 90 (180 ears) patients 61 (67.78%) were males and 29 (32.22%) females. Mean age of the sample was 6.15±2.226 years (3-10, range 7 years). On otoscopic examination, 107/180 (59.45%) ears were suspected to have fluid in the middle ear. Type B tympanogram was detected in 125/180 (69.45%) ears. Only 38/90 (42.20%) patients (76/180 ears), underwent pure tone audiometry. Based on otoscopic, tympanometric and audiometric findings, myringotomies were performed in 125/180 (69.45%) ears. At myringotomy fluid was present in middle ear space of 98/180 (78.4%) ears. Out of total 180 ears the true frequency of otitis media with effusion was 98/180 (54.45%). \u0000Conclusions: The frequency of otitis media with effusion in patients with cleft palate is high. Tympanometry is fairly sensitive in diagnosing this condition in these patients.","PeriodicalId":44174,"journal":{"name":"Gomal Journal of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2019-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45613416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mohammad Riazuddin Ghori, Hamzullah Khan, M. Marwat
Background: The distribution of non-malignant hematological disorder varies across globe by sex, age groups and type of disease. The objectives of this study were to determine distribution of non-malignant hematological disorders by sex, age groups and type of disease based on bone marrow aspiration in population of Khyber Pakhtunkhwa, Pakistan. Materials and Methods: This cross-sectional study was conducted in Department of Pathology, Khyber Teaching Hospital, Peshawar, Pakistan from Jan.-Dec. 2014. 116 cases with non-malignant hematogical disorders were selected. Sex, age groups and type of disease were analyzed by count and percentage with confidence intervals for proportions. Chi-square goodness-of-fit test was used to testify two hypotheses. Results: Out of 116 cases, 63(54.31%, 80%CI 48.38-60.24) were men and 53(45.69%, 80% CI 39.76-51.62) women. Age groups wise; 31(26.72%, 80%CI 21.46-31.99) were child (≤17 years), 57(49.14%, 80%CI 43.19-55.09) young adult (18-35 years), 19(16.38%, 80%CI 11.98-20.78) middle-aged adults (36-55 years) and nine (7.76%, 80%CI 4.57-10.94) older adults (≥56 years). Frequency of type of disease was; hemolytic anemia 17(14.66%, 80%CI 10.45-18.86), megaloblastic anemia 16(13.79%, 80%CI 9.69-17.9), bone marrow hypoplasia 14(12.07%, 80%CI 8.19-15.95), iron deficiency anemia 13(11.21%, 80%CI 7.45-14.96), mixed deficiency anemia 9(7.76%, 80%CI 4.57-10.94), ITP 9(7.76%, 80%CI 4.57-10.94), aplastic anemia 8(6.89%, 80%CI 3.88-9.91), bi-liniage cytopenia 7(6.03%, 80%CI 3.2-8.87), erythroid hyperplasia 3(2.59%, 80%CI .7-4.47) and malaria 2(1.72%, 80%CI 0.18-3.27). In 18(15.52%, 80%CI 11.21-19.83) cases the bone marrow was diluted. Null hypothesis for distribution of sex (p=.3532) was accepted while that for age groups was rejected (p=
{"title":"DISTRIBUTION OF NON-MALIGNANT HEMATOLOGICAL DISORDERS BY SEX, AGE GROUPS AND TYPE OF DISEASE BASED ON BONE MARROW ASPIRATION IN POPULATION OF KHYBER PAKHTUNKHWA, PAKISTAN","authors":"Mohammad Riazuddin Ghori, Hamzullah Khan, M. Marwat","doi":"10.46903/17.02.1926","DOIUrl":"https://doi.org/10.46903/17.02.1926","url":null,"abstract":"Background: The distribution of non-malignant hematological disorder varies across globe by sex, age groups and type of disease. The objectives of this study were to determine distribution of non-malignant hematological disorders by sex, age groups and type of disease based on bone marrow aspiration in population of Khyber Pakhtunkhwa, Pakistan. \u0000Materials and Methods: This cross-sectional study was conducted in Department of Pathology, Khyber Teaching Hospital, Peshawar, Pakistan from Jan.-Dec. 2014. 116 cases with non-malignant hematogical disorders were selected. Sex, age groups and type of disease were analyzed by count and percentage with confidence intervals for proportions. Chi-square goodness-of-fit test was used to testify two hypotheses. \u0000Results: Out of 116 cases, 63(54.31%, 80%CI 48.38-60.24) were men and 53(45.69%, 80% CI 39.76-51.62) women. Age groups wise; 31(26.72%, 80%CI 21.46-31.99) were child (≤17 years), 57(49.14%, 80%CI 43.19-55.09) young adult (18-35 years), 19(16.38%, 80%CI 11.98-20.78) middle-aged adults (36-55 years) and nine (7.76%, 80%CI 4.57-10.94) older adults (≥56 years). Frequency of type of disease was; hemolytic anemia 17(14.66%, 80%CI 10.45-18.86), megaloblastic anemia 16(13.79%, 80%CI 9.69-17.9), bone marrow hypoplasia 14(12.07%, 80%CI 8.19-15.95), iron deficiency anemia 13(11.21%, 80%CI 7.45-14.96), mixed deficiency anemia 9(7.76%, 80%CI 4.57-10.94), ITP 9(7.76%, 80%CI 4.57-10.94), aplastic anemia 8(6.89%, 80%CI 3.88-9.91), bi-liniage cytopenia 7(6.03%, 80%CI 3.2-8.87), erythroid hyperplasia 3(2.59%, 80%CI .7-4.47) and malaria 2(1.72%, 80%CI 0.18-3.27). In 18(15.52%, 80%CI 11.21-19.83) cases the bone marrow was diluted. Null hypothesis for distribution of sex (p=.3532) was accepted while that for age groups was rejected (p=","PeriodicalId":44174,"journal":{"name":"Gomal Journal of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2019-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49054360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jamshed Khan, M. Junaid, S. Uddin, K. Moeed, Usman Ullah, Shehla Aman
Background: Intellectual disability (ID) is a neuro-developmental defect that is manifested by development delay and learning disability. Such defects may be caused due to chromosomal disorders (trisomy 18 or Down syndrome) or single gene mutation. Its worldwide prevalence is estimated to be 1-3%. The genetic etiology of non-syndromic ID is poorly understood. To date, more than 100 loci have been reported to be associated with non-syndromic ID. The objective of this study was to identify the causative genes for three Materials & Methods: This cross-sectional study was conducted in the Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan from March 2014 to August 2015. The inclusion criteria set for the families was consanguineous relation and more than two patients per family (including cousins). All the patients were tested individually in friendly atmosphere using IQ test to scale the ID on the basis of performance. Thereafter, blood samples were taken by aseptic method and DNA was extracted for the purpose of doing genetic analysis. In genetic analysis, exome sequencing was performed to find the pathogenic variants. Subsequently. Sanger sequencing was also done to see the segregation of pathogenic variants. Results: Genetic analysis found mutation in AP4B1 in Family 1, in WDR62 in Family 2, while Family 3 was unremarkable. Conclusion: The study involved genetic analysis of three consanguineous families and found mutation in AP4B1 in Family 1, in WDR62 in Family 2, while Family 3 was unremarkable. The present research will help in devising molecular diagnostic technics for pre-marital and pre-conception testing.
{"title":"GENETIC ANALYSIS OF FAMILIES HAVING AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY","authors":"Jamshed Khan, M. Junaid, S. Uddin, K. Moeed, Usman Ullah, Shehla Aman","doi":"10.46903/17.02.1908","DOIUrl":"https://doi.org/10.46903/17.02.1908","url":null,"abstract":"Background: Intellectual disability (ID) is a neuro-developmental defect that is manifested by development delay and learning disability. Such defects may be caused due to chromosomal disorders (trisomy 18 or Down syndrome) or single gene mutation. Its worldwide prevalence is estimated to be 1-3%. The genetic etiology of non-syndromic ID is poorly understood. To date, more than 100 loci have been reported to be associated with non-syndromic ID. The objective of this study was to identify the causative genes for three Materials & Methods: This cross-sectional study was conducted in the Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan from March 2014 to August 2015. The inclusion criteria set for the families was consanguineous relation and more than two patients per family (including cousins). All the patients were tested individually in friendly atmosphere using IQ test to scale the ID on the basis of performance. Thereafter, blood samples were taken by aseptic method and DNA was extracted for the purpose of doing genetic analysis. In genetic analysis, exome sequencing was performed to find the pathogenic variants. Subsequently. Sanger sequencing was also done to see the segregation of pathogenic variants. \u0000Results: Genetic analysis found mutation in AP4B1 in Family 1, in WDR62 in Family 2, while Family 3 was unremarkable. \u0000Conclusion: The study involved genetic analysis of three consanguineous families and found mutation in AP4B1 in Family 1, in WDR62 in Family 2, while Family 3 was unremarkable. The present research will help in devising molecular diagnostic technics for pre-marital and pre-conception testing.","PeriodicalId":44174,"journal":{"name":"Gomal Journal of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2019-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43846401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-03-31DOI: 10.46903/gjms/17.01.2014
H. Khan, I. Ahmad
Dengue fever (DF) is a viral disease transmitted by Aedes aegypti and Aedes albopictus mosquitoes. Dengue virus (DENV) has four subtypes or serotypes i.e. DENV-1, DEVNV-2, DENV-3, and DENV-4.1,2 The incubation period is 3 to 14 days. Infection with one subtype confers life-long immunity to that type only. However, infection to other serotype in future may result in more severe disease with increased chances of serious complications.1 The disease affects some 50-100 million people worldwide every year. Out of whom about 1-2% patients develop its serious complications like dengue haemorrhagic fever (DHF) and dengue shock syndrome (DSS), resulting in about 22,000 deaths per year. Dengue fever (DF) is endemic in all the regions of Pakistan and 3204 confirmed cases of dengue fever were reported during 2018.3-5 Pakistan has seen dengue epidemics in the past and such epidemics are always apprehended from August to October every year because of favourable seasonal conditions for its vector to flourish. Dengue epidemics are really like a nightmare and timely measures against the culprit mosquitoes is the only way to avoid these epidemics. The Field Epidemiology & Disease Surveillance Division of Ministry of National Health Services, Regulations & Coordination has issued an advisory for the prevention and control of Dengue fever, has timely issued the guidelines for the year 2019.3,6,7 Early identification and good clinical management are important to reduce its mortality.3 A study from D.I.Khan of Khyber Pukhtunkhwa province has shown that knowledge regarding the DF is low and the public needs to be educated about dengue disease and its prevention utilizing all the sources of information employing mass media, print as well as electronic.3,8 The health departments of both the Federal and Provincial Governments are leaving no stone unturned to increase the public awareness. The academia is also motivated to have research and write on this topic to further enhance the knowledge so that we see the preventive efforts in the practice among the masses.
{"title":"DENGUE EPIDEMIC APPREHENDED IN PAKISTAN: KNOWLEDGE AND PREVENTIVE MEASURES CAN AVERT IT","authors":"H. Khan, I. Ahmad","doi":"10.46903/gjms/17.01.2014","DOIUrl":"https://doi.org/10.46903/gjms/17.01.2014","url":null,"abstract":"Dengue fever (DF) is a viral disease transmitted by Aedes aegypti and Aedes albopictus mosquitoes. Dengue virus (DENV) has four subtypes or serotypes i.e. DENV-1, DEVNV-2, DENV-3, and DENV-4.1,2 The incubation period is 3 to 14 days. Infection with one subtype confers life-long immunity to that type only. However, infection to other serotype in future may result in more severe disease with increased chances of serious complications.1 The disease affects some 50-100 million people worldwide every year. Out of whom about 1-2% patients develop its serious complications like dengue haemorrhagic fever (DHF) and dengue shock syndrome (DSS), resulting in about 22,000 deaths per year. Dengue fever (DF) is endemic in all the regions of Pakistan and 3204 confirmed cases of dengue fever were reported during 2018.3-5 Pakistan has seen dengue epidemics in the past and such epidemics are always apprehended from August to October every year because of favourable seasonal conditions for its vector to flourish. Dengue epidemics are really like a nightmare and timely measures against the culprit mosquitoes is the only way to avoid these epidemics. The Field Epidemiology & Disease Surveillance Division of Ministry of National Health Services, Regulations & Coordination has issued an advisory for the prevention and control of Dengue fever, has timely issued the guidelines for the year 2019.3,6,7 Early identification and good clinical management are important to reduce its mortality.3 A study from D.I.Khan of Khyber Pukhtunkhwa province has shown that knowledge regarding the DF is low and the public needs to be educated about dengue disease and its prevention utilizing all the sources of information employing mass media, print as well as electronic.3,8 The health departments of both the Federal and Provincial Governments are leaving no stone unturned to increase the public awareness. The academia is also motivated to have research and write on this topic to further enhance the knowledge so that we see the preventive efforts in the practice among the masses.","PeriodicalId":44174,"journal":{"name":"Gomal Journal of Medical Sciences","volume":" ","pages":""},"PeriodicalIF":0.5,"publicationDate":"2019-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44748513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}