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  • 1
    Online Resource
    Online Resource
    Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population
    Springer Science and Business Media LLC ; 2019
    In:  Thrombosis Journal Vol. 17, No. 1 ( 2019-12)
    Details
    In: Thrombosis Journal, Springer Science and Business Media LLC, Vol. 17, No. 1 ( 2019-12)
    Type of Medium: Online Resource
    ISSN: 1477-9560
    URL: Article
    DOI: 10.1186/s12959-019-0193-9
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2019
    detail.hit.zdb_id: 2118392-2
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  • 2
    Online Resource
    Online Resource
    Correction to: HIV-1 genetic diversity, geographical linkages and antiretroviral drug resistance among individuals from Pakistan
    Springer Science and Business Media LLC ; 2018
    In:  Archives of Virology Vol. 163, No. 1 ( 2018-1), p. 41-41
    Details
    In: Archives of Virology, Springer Science and Business Media LLC, Vol. 163, No. 1 ( 2018-1), p. 41-41
    Type of Medium: Online Resource
    ISSN: 0304-8608 , 1432-8798
    URL: Article
    DOI: 10.1007/s00705-017-3613-9
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2018
    detail.hit.zdb_id: 1458460-8
    SSG: 12
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  • 3
    Online Resource
    Online Resource
    Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees
    MDPI AG ; 2023
    In:  Genes Vol. 14, No. 2 ( 2023-02-03), p. 404-
    Details
    In: Genes, MDPI AG, Vol. 14, No. 2 ( 2023-02-03), p. 404-
    Abstract: This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. A total of 12 affected families were enrolled. Clinical investigations were performed to access the BBS-associated phenotypes. Whole exome sequencing was conducted on one affected individual from each family. The computational functional analysis predicted the variants’ pathogenic effects and modeled the mutated proteins. Whole-exome sequencing revealed 9 pathogenic variants in six genes associated with BBS in 12 families. The BBS6/MKS was the most common BBS causative gene identified in five families (5/12, 41.6%), with one novel (c.1226G 〉 A, p.Gly409Glu) and two reported variants. c.774G 〉 A, Thr259LeuTer21 was the most frequent BBS6/MMKS allele in three families 3/5 (60%). Two variants, c.223C 〉 T, p.Arg75Ter and a novel, c. 252delA, p.Lys85STer39 were detected in the BBS9 gene. A novel 8bp deletion c.387_394delAAATAAAA, p. Asn130GlyfsTer3 was found in BBS3 gene. Three known variants were detected in the BBS1, BBS2, and BBS7 genes. Identification of novel likely pathogenic variants in three genes reaffirms the allelic and genetic heterogeneity of BBS in Pakistani patients. The clinical differences among patients carrying the same pathogenic variant may be due to other factors influencing the phenotype, including variants in other modifier genes.
    Type of Medium: Online Resource
    ISSN: 2073-4425
    URL: Article
    DOI: 10.3390/genes14020404
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2527218-4
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  • 4
    Online Resource
    Online Resource
    NEGATIVE APPENDECTOMIES ARE MORE COMMON IN FEMALES OF REPRODUCTIVE AGE GROUP
    Army Medical College ; 2021
    In:  PAFMJ Vol. 71, No. 6 ( 2021-12-30), p. 2011-14
    Details
    In: PAFMJ, Army Medical College, Vol. 71, No. 6 ( 2021-12-30), p. 2011-14
    Abstract: Objective: To compare the negative appendectomy in the females of reproductive and non-reproductive age groups. Study Design: Cross-sectional study. Place and Duration of Study: Department of Pathology, Diagnostic and Research Laboratory, Liaquat University of Medical and Health Sciences, Hyderabad, Pakistan, from January 2018 to December 2019. Methodology: A total of 1126 appendectomy specimens were enrolled irrespective of age and gender. The biodata of patients was retrieved from the database. Statistical analysis was done using SPSS version 22. Results: Out of total 1126 reported cases, 787 (69.9%) were males and 339 (30.1%) were females. The mean age was calculated to be 24.43 ± 12.42 years ranging from 2-94 years. Histopathological examination revealed cases of acute appendicitis 374 (33.2%), acute appendicitis with peri-appendicitis 478 (42.5%), fibrous obliteration 28 (2.5%) and parasitic infestation 7 (0.6%). Overall negative appendectomies were 219 (19.4%) and were prominent in females 100 (29.5%) than males 119 (15.1%). Also it was higher in females of reproductive age group 77 (30.4%) than in non-reproductive age group 23 (27.9%). Conclusion: In our study negative appendectomy in females of reproductive age groups was found to be higher than expected. Clinical scoring systems, biochemical markers, imaging modalities, and second opinion from other specialties like internal medicine, gynae and obstetric have been introduced to substantiate the diagnosis of acute appendicitis and thereby decreases the negative appendectomy.
    Type of Medium: Online Resource
    ISSN: 2411-8842 , 0030-9648
    URL: Article
    DOI: 10.51253/pafmj.v6i6.4630
    Language: Unknown
    Publisher: Army Medical College
    Publication Date: 2021
    detail.hit.zdb_id: 2923742-7
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  • 5
    Online Resource
    Online Resource
    Pandemonium of diseases after floods – An emerging major health issue in Pakistan
    Liaquat Medical Research Journal ; 2022
    In:  LIAQUAT MEDICAL RESEARCH JOURNAL Vol. 4, No. 3 ( 2022-09-30)
    Details
    In: LIAQUAT MEDICAL RESEARCH JOURNAL, Liaquat Medical Research Journal, Vol. 4, No. 3 ( 2022-09-30)
    Abstract: Floods and heavy rain bring another disaster of diseases and pose a huge burden on the health care system. Pakistan is currently facing a major natural disaster of this decade, where Sindh and Baluchistan are badly affected. Millions of people are homeless and live in camps, shelter homes, or tent cities. The diseases that emerge immediately after floods include gastroenteritis with diarrhoea and vomiting, followed by vector-borne diseases (i.e. malaria and dengue fever) influenced by the growth of mosquitoes in the stagnant water. Due to unhygienic conditions and overcrowded camps, skin diseases emerge later. Altogether this situation causes major burden on the already weakened health care system, which is devastated due to rain and even destroyed in some places. Thus proper planning and preventive measures need to be taken on an urgent basis.
    Type of Medium: Online Resource
    ISSN: 2709-5878 , 2664-5734
    URL: Issue
    URL: Article
    DOI: 10.38106/LMRJ.2021.4.3.0
    DOI: 10.38106/LMRJ.2022.4.3-01
    Language: Unknown
    Publisher: Liaquat Medical Research Journal
    Publication Date: 2022
    detail.hit.zdb_id: 3122229-8
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  • 6
    Online Resource
    Online Resource
    Frequency of Factor V Deficiency (F5d) among patients with Bleeding Complaints
    Lahore Medical and Dental College ; 2022
    In:  Pakistan Journal of Medical and Health Sciences Vol. 16, No. 5 ( 2022-05-26), p. 87-88
    Details
    In: Pakistan Journal of Medical and Health Sciences, Lahore Medical and Dental College, Vol. 16, No. 5 ( 2022-05-26), p. 87-88
    Abstract: Background: Commonest genetic defect includes mutation of F5 gene on the long arm of chromosome1q23 thus both parents carry defective gene. Aim: To evaluate the frequency of inherited Factor V deficiency among patients presenting with bleeding at T.C hospital. Study design: Cross sectional study. Methodology: A total of 300 patient presented with complain of bleeding were included in this study. Detailed history was noted. PCR was performed. After preparation of PCR reaction mixture, incubate tubes into thermal cycler having specific cycling condition. Primer was use for both PCR amplifications and sequencing reactions was designed. Applied bio-system was used for mutation detection. The collected data was analyzed by using SPSS version 25. Results: The average age of the patients was 36.87±9.40 years. There were 213(71%) male and 87(29%) female. Frequency of inherited factor V deficiency in patients presented with complains of bleeding was 3.33% (10/300). Conclusion: It was concluded that frequency of inherited factor V deficiency in present study was low. Conclusion: frequency of inherited factor V deficiency in present study was low (3.33%). Keywords: Mutation, Factor V deficiency, bleeding, PCR reaction.
    Type of Medium: Online Resource
    URL: Issue
    URL: Journal
    URL: Article
    DOI: 10.53350/pjmhs22165
    DOI: 10.53350/pjmhs2216
    DOI: 10.53350/pjmhs2216587
    Language: Unknown
    Publisher: Lahore Medical and Dental College
    Publication Date: 2022
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  • 7
    Online Resource
    Online Resource
    Pharmacy Education: Upgradation and Clinical Rotation to Produce Quality Professionals in Pakistan
    Lahore Medical and Dental College ; 2022
    In:  Pakistan Journal of Medical and Health Sciences Vol. 16, No. 8 ( 2022-08-31), p. 1-2
    Details
    In: Pakistan Journal of Medical and Health Sciences, Lahore Medical and Dental College, Vol. 16, No. 8 ( 2022-08-31), p. 1-2
    Abstract: Pharmacy is an expanding profession with new and expanded duties for pharmacists. Pharmacology training should adjust to local and global trends to graduate quality pharmacists1. The five years of basic pharmacy education is inadequate for excellent quality of treatment, which might impair patients' health. Several nations, including the USA, have expanded basic pharmacology training to 6 years and established Pharm D as entrance level for any area of practice2. Countries that have implemented postgraduate training produce practice-ready pharmacists in varied sectors, depending on specialty and local requirements. Regional pharmacy authorities supply a large number of institutional rotation locations for pharmacy students, whereas hospital rotations have become a career necessity3. This rotation aims to provide students experience as pharmacists in a multidisciplinary context. The rotation's goals and activities include comprehending patients' drug-related requirements, pharmacists' regulatory, ethical, and professional duties, and medication distribution4. This clinical rotation offered a number of issues for institutions, especially in offering possibilities for students to engage in the pharmacist's job. Students should perform a set of specific clinical activities for which they are educated in hands-on workshops, followed by observation by a clinician or physician. Students do activities under indirect supervision after skill assessment. This technique lets students participate in direct medical care and help specific patients.5The duration of the rotation is inadequate for skill development, thus students must do duties under indirectly supervision of the institution's physician to begin hospital pharmacy practice.
    Type of Medium: Online Resource
    URL: Issue
    URL: Journal
    URL: Article
    DOI: 10.53350/pjmhs22168
    DOI: 10.53350/pjmhs2216
    DOI: 10.53350/pjmhs221681
    Language: Unknown
    Publisher: Lahore Medical and Dental College
    Publication Date: 2022
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  • 8
    Online Resource
    Online Resource
    Impact of Hydroxyurea on Blood Transfusion Rate in Patients of Beta-Thalassemia Major
    Sciencedomain International ; 2022
    In:  Journal of Pharmaceutical Research International ( 2022-07-25), p. 20-24
    Details
    In: Journal of Pharmaceutical Research International, Sciencedomain International, ( 2022-07-25), p. 20-24
    Abstract: Objective: To determine the effectiveness of hydroxyurea on the blood transfusion rate in patients with beta-thalassemia major. Materials and Methods: This cross-sectional study was held in the Department of Genetics and Molecular Biology/Pathology at LUMHS Jamshoro, and Diagnostic and Research Laboratory, in Hyderabad, Sindh from February 2015 to August 2015. Patients with beta thalassaemia major, diagnosed with Hb electrophoresis, who had Hb less than 7 g/dl and were regularly transfused every two to four weeks were included. Patients were divided into two groups in equal numbers. Half of the patients underwent blood transfusion with the treatment of hydroxyurea and half without hydroxyurea. In comparison to those who did not receive hydroxyurea treatment. The ability to keep haemoglobin levels over 9 g/dl or a lowering of at least 50% from the initial transfusion needs were considered signs of therapeutic success. Data was entered and analyzed using SPSS 26. Results: The mean age of the patients was 11.02+3.93 years and males were in the majority (68.0%). In 56.2% of cases, there was a positive family history. The mean serum ferritin level was 12824.39+300.60 ng/ml and the mean haemoglobin level was 7.52+1.67 gm/dl. Some patients did not report follow-up, because some families had migrated to other areas of Sindh, and some cases went to other welfare hospitals/ centers, for treatment. Therefore, out of 40 patients, 30 were observed with hydroxyurea, and overall, this treatment showed a significant decrease in blood transfusion requirements (P-0.01). Conclusion: As per the study’s conclusion, hydroxyurea was observed to be the most effective treatment to decrease the blood transfusion rate, but patients should be treated under proper and responsible observation.
    Type of Medium: Online Resource
    ISSN: 2456-9119
    URL: Article
    DOI: 10.9734/jpri/2022/v34i45B36364
    Language: Unknown
    Publisher: Sciencedomain International
    Publication Date: 2022
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  • 9
    Online Resource
    Online Resource
    Spectrum of HBB gene variants and major endocrine complications in thalassemia patients of Pakistan
    Pakistan Medical Association ; 2023
    In:  Journal of the Pakistan Medical Association Vol. 73, No. 10 ( 2023-09-13), p. 2013-2016
    Details
    In: Journal of the Pakistan Medical Association, Pakistan Medical Association, Vol. 73, No. 10 ( 2023-09-13), p. 2013-2016
    Abstract: Objectives: To determine the molecular characterisation of beta-thalassemia major patients, pattern of major endocrine complications and its association with haemoglobin subunit beta gene variants. Method: The cross-sectional study was conducted from November 2021 to November 2022 after approval from the ethics review committee of Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan, and comprised of 88 patients with beta thalassemia major aged 〉 8 years and having serum ferritin level 〉 1000µg/L. The subjects were analysed for haemoglobin subunit beta gene variants and major endocrine complications, like growth retardation, hypogonadism,  hypothyroidism, hypoparathyroidism and diabetic abnormalities using an automatic chemistry analyser, fully automatic chemiluminescence immunoassay analyser, enzyme-linked immunosorbent assay and real-time polymerase chain reaction. Data was analysed using SPSS 25. Results: Of the 88 subjects, 40(45.4%) were girls and 48(54.5%) were boys. The overall mean age was 12±2.81 years. Of the total, 55(62.5%) had growth retardation, 41(46.6%) were cases of hypogonadism, 16(18.1%) hypothyroidism, 5(5.7%) hypoparathyroidism, 3(3.4%) diabetes mellitus and 8 (9.1%) had impaired glucose tolerance. Also, 65(73.9%) patients confronted at least one endocrine complication. Endocrine complications were strongly associated with serum ferritin levels (p=0.000). The most common haemoglobin subunit beta gene variant identified was IVSI-5 (G 〉 C) in 36(40.9%), and the least identified variant was cluster of differenctiation-26 (G 〉 A) 1(1.1%). The association between haemoglobin subunit beta gene variants with endocrine complications was statistically non-significant (p 〉 0.05). Conclusion: IVSI-5 (G 〉 C) was found to be the most frequent haemoglobin subunit beta gene variant among beta-thalassemia major patients. Key Words: Beta-thalassemia major, Endocrine complications, Growth retardation, Hypothyroidism, Parathyroidism, Diabetes mellitus.
    Type of Medium: Online Resource
    ISSN: 0030-9982
    URL: Article
    DOI: 10.47391/JPMA.8599
    Language: Unknown
    Publisher: Pakistan Medical Association
    Publication Date: 2023
    detail.hit.zdb_id: 2128872-0
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  • 10
    Online Resource
    Online Resource
    Pan-Cancer Multiomics Analysis of TC2N Gene Suggests its Important Role(s) in Tumourigenesis of Many Cancers
    EpiSmart Science Vector Ltd ; 2020
    In:  Asian Pacific Journal of Cancer Prevention Vol. 21, No. 11 ( 2020-11-01), p. 3199-3209
    Details
    In: Asian Pacific Journal of Cancer Prevention, EpiSmart Science Vector Ltd, Vol. 21, No. 11 ( 2020-11-01), p. 3199-3209
    Type of Medium: Online Resource
    ISSN: 2476-762X
    URL: Article
    DOI: 10.31557/APJCP.2020.21.11.3199
    Language: English
    Publisher: EpiSmart Science Vector Ltd
    Publication Date: 2020
    detail.hit.zdb_id: 2218955-5
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