34 research outputs found

    Pachydermoperiostosis (Touraine-Solente-Gole Syndrome): A Case Report of Primary Hypertrophic Osteoarthropathy

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    Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy (PHO), also known as the Touraine–Solente–Gole syndrome, is an autosomal dominant genetic disorder that is rare and is identified by finger clubbing, skin thickening, and periosteal growth. This case study details the case of a 21-year-old man with PDP to raise awareness, improve diagnosis, and enhance management strategies for the condition. The individual showed common signs like digital clubbing, pachydermia, and periostosis, as well as related symptoms like hyperhidrosis. Radiological imaging supported the diagnosis by revealing periosteal reactions and cortical thickening in multiple bones. Other conditions with comparable clinical characteristics were considered in the differential diagnosis, however, the diagnosis of PHO was confirmed by the specific radiological results and normal hormonal levels. The treatment primarily targets alleviating symptoms with drugs like Non steroidal antiinflamatory drugs (NSAIDs) and corticosteroids, along with newer options such as bisphosphonates. Timely detection and correct treatment are essential to enhance the well-being of people with PHO. This case study emphasizes the significance of tracking symptoms and offering thorough care to those with PDP/PHO

    Knowledge and Awareness about Genetic Problems Associated with Consanguineous Marriages among Non-Medical Students of Islamabad

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    Objective: To access the level of knowledge of non-medical students about genetic problems related to consanguinity. Methodology: A descriptive study was conducted from September 2015 to June 2016 to collect information regarding acquaintance and perceptions about, consanguineous marriages among students of different colleges and universities of Federal Capital. Specially designed performa was used to collect data. The collected data was analyzed by using Statistical Package for Social Sciences (SPSS) software version 16.0. Demographic characteristics of participants were calculated as Mean±SD. Chi-square test was applied to check the level of significance among different categorical variables. Results: A total of 424 students were surveyed, out of which 155 (36.6%) were male and 269 (63.4%) were female. The mean age of the study population was 20.39 ±2.44. The data analysis showed only 9.7% of students are fully aware of the problems associated with consanguinity. Girls were found to be more aware as compared to boys (p= 0.05) and among all ethnic groups, Punjabis were found to be more aware (16.9%). In subjects with a history of parental consanguinity and consanguinity in siblings, low level of awareness (8.8% and 8.5% respectively) was found. Conclusion: Efforts should be made to increase the knowledge about consanguinity and its association with genetic diseases among non-medical students.&nbsp

    IMPACT OF SODIUM FLUORIDE ON SPINAL CORD's GREY MATTER ON ADULT MALE ALBINO RATS

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    Objectives: Fluoride is among the elements which is reactive as well as toxic. The exposure of humans to this element is very common from different sources like mouth rinses, normal water for drinking, supplements of diet and toothpastes. The aim of this study is to investigate the impact of NaF alone or in combination with green tea on spinal cords grey matter of albino rats. Methodology: We examined the sections of spinal cord with the utilization of light as well as electron microscopy. Immuno-histochemical evaluations for the manifestation of Caspase-3 and GFAP (Glial Fibrillary Acidic Protein). We used the AGE (Agarose Gel Electrophoresis) for the fragmentation of DNA. Results: The results of this research work showed that sodium fluoride is the cause of production of neuro-degeneration, hemorrhage, vacuolation with abnormal vessels of blood and important rise in the size and amount of the astrocytes. Additionally, neurons displayed an important reduction of their content of Nissl’s granules and significant enhanced Caspase-3 expression. Conclusion: Green tea employed a defensive impact in opposition neurotoxicity induced by sodium fluoride. The findings of this research work add to acknowledged toxic impacts of sodium fluoride. KEYWORDS: Agarose Gel Electrophoresis, Green Tea, Hemorrhage, Astrocytes, Fragmentation, Spinal Cord, Fluoride

    Antenatal HIV Screening and Treatment in South Africa: Social Norms and Policy Options

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    South Africa has one of the highest prevalence of HIV and AIDS in the world, with mother-to-child transmission being an important route for spread of the infection. For years, AIDS scientists and activists locally and internationally have been working desperately for the people of South Africa to have access to treatment for HIV and AIDS. Policymakers in South Africa have consistently maintained that HIV infection is not responsible for AIDS, thus creating the biggest obstacle to implementation of appropriate prevention and therapeutic programmes, including antiretroviral therapy for HIV positive persons. Only recently, people within the government and ruling party, defying previous policy, have agreed that antiretroviral drugs should be given to pregnant women with HIV. The social fabric of South African society is markedly different from that of Western countries. In this paper, the author analyses the likely implications of antenatal testing and treatment of pregnant women in South Africa, in light of the socio-economic and cultural status of women in that society. (Afr J Reprod Health 2004; 8[2]: 77-85

    Antenatal HIV Screening and Treatment in South Africa: Social Norms and Policy Options

    No full text
    South Africa has one of the highest prevalence of HIV and AIDS in the world, with mother-to-child transmission being an important route for spread of the infection. For years, AIDS scientists and activists locally and internationally have been working desperately for the people of South Africa to have access to treatment for HIV and AIDS. Policymakers in South Africa have consistently maintained that HIV infection is not responsible for AIDS, thus creating the biggest obstacle to implementation of appropriate prevention and therapeutic programmes, including antiretroviral therapy for HIV positive persons. Only recently, people within the government and ruling party, defying previous policy, have agreed that antiretroviral drugs should be given to pregnant women with HIV. The social fabric of South African society is markedly different from that of Western countries. In this paper, the author analyses the likely implications of antenatal testing and treatment of pregnant women in South Africa, in light of the socio-economic and cultural status of women in that society. (Afr J Reprod Health 2004; 8[2]: 77-85 ) KEY WORDS: HIV screening, South Africa, pregnant women Dépistage et traitement prénatals du VIH en Afrique du Sud: normes sociales et options des politiques. L\'Afrique du Sud a une des plus hautes prévalences du VIH et SIDA du monde, dont la transmission de la mère à l\'enfant est une voie importante pour la propagation de l\'infection. Depuis des années, les scientifiques et des activistes du SIDA sur le plan local et international, travaillent désespéremment pour que les gens d\'Afrique du Sud aient un accès au traitement pour le VIH et le SIDA. Les décisionnaires en Afrique du Sud ont systématiquement insisté sur le fait que l\'infection du VIH n\'est pas responsable du SIDA, créant ainsi le plus grand obstacle à la réalisation de la prévention appropriée et des programmes thérapeutiques, y compris la thérapie antirétrovirale pour les personnes séropositives. Très récemment, les fonctionnaires et les membres du parti politique au pouvoir, au mépris de l\'ancienne politique, ont accepté que les médicaments antirétroviraux soient donnés aux femmes enceintes séropositives. Le tissu social de la société sud africaine est remarquablement différent de celui des pays occidentaux. Dans cet article, l\'auteur fait une analyse des implications probables du dépistage et traitement prénatals des femmes enceintes en Afrique du Sud, à la lumière de la situation socio-économique et culturelle des femmes dans cette société-là. (Rev Afr Santé Reprod 2004; 8[2]: 77-85

    Spectrum of Mutations of Beta Thalassemia

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    Objective: To identify gene mutations known to cause thalassemia major and intermedia amongst patients coming to thalassemia Centre of Pakistan Institute of Medical Sciences(PIMS). Patients and Methods: Hundred transfusion dependent thalassemia patients were recruited from PIMS. Genome DNA was isolated by using phenol-chloroform method. Allele specific PCR was performed by using primers specific for twelve known disease causing mutations, prevalent in Pakistan. The PCR product was run on 6% polyacrylamide gel electrophoresis and visualized by silver staining technique. Results were recorded and data were entered and analyzed using SPSS version 16. Results: Total Number of patients included in the study was 100, among them 46% were males and 54% were females. Parenteral consanguinity was seen in 95% cases. Most common homozygous mutations were Fr 8-9 [23(28.7%)], followed by IVSI-5 [17(21.3%)] cases. Compound heterozygous mutations were seen in 20% cases, among them the most common was Fr 8-9/IVS1-5 (5/20 cases), and Fr 8-9/del 619 (3/20 cases). Analysis of type of mutation in different ethnic groups showed that Fr 8-9 was the most common mutation in Punjabis and Pathans seen in 14/63 and 6/28 cases respectively, followed by IVS1-5 seen in 11/63 and 5/28 cases respectively. The most common mutation in Thalassemia major was Fr 8-9 seen in 22 (25%) cases followed by IVS1-5 seen in 15 (17%) cases and Fr 41-42 seen in 10 (11.4%) cases. The number of patients of Thalassemia Intermedia was low in this study (n=12), however among these the commonest mutations were Cap +1, Fr 8-9, IVS1-5 and del 619, presenting as homozygous or compound heterozygous mutations. Conclusion: Molecular characterization of Thalassemia major and intermedia patients is very essential so that we can set trigger of hemoglobin level accordingly before putting them on regular transfusion. Less frequent transfusion, iron chelation and HU therapy will significantly reduce serum ferritin, liver and spleen size of this group of patients and thus significantly improve their quality of life.&nbsp

    A new species of Lecidea (Lecanorales, Ascomycota) from Pakistan

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    We describe here a new species, Lecidea aptrootii, in Lecidea sensu stricto from Swat Valley, Pakistan. It is most similar to L. fuscoatra in having an areolate thallus and black, lecideine apothecia with a persistent margin. However, L. aptrootii can be readily distinguished by having smaller ascospores (average length 8-10 µm). In phylogenetic analyses, using ITS and nuLSU rDNA sequences, L. aptrootii forms a sister-group relationship to L. grisella, which differs in having a rimose thallus
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