277 research outputs found

    Salivary Versus Serum Approaches in Assessment of Biochemical Hyperandrogenemia

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    Background: Biochemically, hyperandrogenism is established by elevated circulating levels of free or total serum testosterone and an increased free androgen index. Approximately, 60‑80% of women with polycystic ovarian syndrome (PCOS) demonstrate elevated circulating androgen levels. Aim: This prospective observational randomized study was to investigate the likelihood of using the salivary luteinizing hormone (LH), free testosterone (FT) and dehydroepiandrosterone sulfate (DHEAS) levels instead of serum values in diagnosing biochemical hyperandrogenemia in women with PCOS. Subjects and Methods: This study was conducted on 75 women having PCOS in addition to 20 normal fertile women (control group). Venous blood and salivary samples were taken in the 3rd day of the cycle to measure LH and FT and DHEAS levels. Results: Biochemical hyperandrogenemia prevails in 40% of women with PCOS. Salivary levels of LH, FT and DHEAS correlate with their corresponding serum values, with a higher sensitivity of salivary more than serum approach. Conclusion: Saliva provides a sensitive, simple, reliable, non‑invasive and uncomplicated diagnostic approach for biochemical hyperandrogenemia.Keywords: Biochemical hyperandrogenemia, dehydroepiandrosterone sulfate, luteinizing hormone, polycystic ovarian syndrome, saliva, testosteron

    Approaching a Dysmorphic Newborn

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    Background: Dysmorphology combines concepts, knowledge and techniques from field of embryology, clinical genetics and pediatrics. It deals with people who have congenital abnormalities and their families. Clinical delineation of dysmorphism and dysmorphic syndromes is crucial for patient management and family counseling. Patients and Method: Forty case mothers and neonates, 83 control mothers and neonates were recruited in the study. Face to face interviews were conducted with the mothers of both cases and controls. Case's mothers and neonates were subjected to certain investigations according to dysmorphic anomaly and when needed. Results: The study showed that increased risk of having a dysmorphic child was associated with high consumption of legumes and the use of kerosene in cooking stoves. Their Odd Ratio (OR) and Confidence Interval (CI) respectively were [OR=15558.0; CI 137.0-17716.2] and [OR=186.7; CI 42.3-824.5]. Maternal demographic risk factors were, medication intake (OR=29.62; CI 3.38-112.5), diseases during pregnancy (OR=24.13; CI 5.92-114.18), maternal occupation (OR=15.4; CI 1.78-132.8), and educational attainment (OR=2.85; CI 1.19-6.86). In rural areas the rate of having dysmorphic child is higher than that in urban areas (OR=11.85; CI 3.60-38.99), (p-value=0.00). Consanguinity (OR=4.35; CI 1.927-9.796), was a key risk factor contributing to dysmorphology. Drinking water which is obtained by pumps was significant in this study (OR=27.3; CI 3.4-222.7) as well as ghee consumption (OR=6.3; CI 2.4-16.4). Conclusion: In conclusion, the considerable challenge posed by dysmorphic abnormalities calls for the development of prevention programs through the establishment of community genetic services particularly those related to maternal education and environmental exposures. These primary prevention measures should be integrated into primary health care. Keywords: Dysmorphology, morphogenesis, dysmorphic syndromes, teratology, ecogenetics Egypt. J. Hum. Genet Vol. 9 (1) 2008: pp. 23-4

    Correlation between the RhD genotyping and RhD serotyping in isoimmunized pregnancies

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    Alloimmunisation was one of the most important causes of perinatal mortality and morbidity by the middle of the last century. The objective of the present study was to investigate the presence of the RHD gene in fetal cells (amniocytes) obtained from amniotic fluid by genotyping to compare it with the RhD serotyping. Also to correlate the presence of RhD gene with the neonatal outcome. This work was carried out at Maternity hospital and Medical Genetics center, while PCR testing was done at the Medical Research center, Faculty of Medicine, Ain Shams University in the period from 2008 to 2010. The present study included recruiting of 20 RhD negative (sensitized to the RhD antigen) pregnant mothers. The entire study group was subjected to complete general, obstetric and a detailed obstetric ultrasonographic examination. Rh typing and indirect Coomb’s test were also done. Amniocentesis was performed with a 20-gauge needle under continuous ultrasound guidance. RhD serotyping of the fetuses showed that, 14 fetuses (70%) were positive and six fetuses (30%) were negative. While using RhD gentyping 13 cases (65%) were positive and seven cases (35%) were negative (P value = 0.002). Among fetuses positive for RhD genotyping six fetuses (46%) had received postnatal treatment, while among fetuses negative for RhD genotyping, neither of them had received postnatal treatment (P value =0.032), which is statistically significant. From the present study we can conclude that, the identification of an antigen-negative fetus on the basis of the blood group genotype provides significant advantages in managing the pregnancy at risk for HDFN.Keywords: Maternal alloimmunization; Rhesus; RHD; Isoimmunization; Hydrops fetalis; Fetus; Rh negativ

    Impact of occult hepatitis B virus infection on antiviral therapy in chronic hepatitis C patients

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    Background: Occult HBV infection (OBI) can be defined by the presence of HBV-DNA in the serum of patients who are negative for HBsAg. The presence of OBI has been associated with a poor therapeutic response to alpha IFN in many, but not in all studies.Objective: The aim of our study was to assess the prevalence of OBI in the serum of Egyptian patients with CHC, and to evaluate its impact on the response to treatment with a combination of Peg-IFNa and RBV.Materials and methods: Fifty chronic HCV infected patients who were treated with Peg-IFNa once a week in combination with RBV for 48 weeks were included in this study. Patients were divided into two groups, group I which included 25 patients who achieved SVR and group II that included 25 patients who failed to achieve SVR (Non-SVR). Both patient groups were subjected to detailed questionnaire, clinical examination, routine laboratory investigations and virological studies.Results: No statistical significant difference was found in sex distribution regarding SVR and Non-SVR. The frequency of patients with low viral load has a statistically significant association.KEYWORDS: Chronic hepatitis C; Occult HBV infection; Sustained virological respons

    Mitochondrial alterations in children with chronic liver disease

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    Background: Over recent years it has become apparent that the hepatocyte mitochondrion functions both as a cause and as a target of liver injury. Resultant dysfunction of mitochondria yields deficient oxidative phosphorylation, increased generation of reactive oxygen species, impairment of other metabolic pathways and activation of both necrotic and apoptotic pathways of cellular death.Methods: This study was conducted on 26 children and adolescents with chronic liver disease who presented to or were following up in the Pediatric Hepatology Clinic, Children’s Hospital, Ain-Shams University. They were divided into three groups according to the aetiology of liver disease (GI=patients with Wilson’s disease (WD), GII=patients with chronic hepatitis C, GIII=patients with chronic liver disease other thanWilson’s and chronic hepatitis C).Ultrasound-guided gun liver biopsies were performed, under local anaesthesia for all the 26 patients, using a modified 18-gauge truecut needle. Two liver biopsy cores were taken from each patient. One for light and electron microscopic examinations and the other was immediately immersed in liquid nitrogen to be frozen and used forstudying mitochondrial DNA deletions by PCR.Results: Liver steatosis was higher in the group of patients with Wilson’s disease and other liver disease. Electron microscopic examination of the mitochondria revealed significant mitochondrial pleomorphism in patients with Wilson’s disease and patients with chronic hepatitis C infection. Enlarged mitochondria were found to bemore prevalent among patients with chronic  hepatitis infection.Three of our patients (11.53%) had mitochondrial DNA deletions. We developed scoring system for mitochondrial affection in our patients, 7 patients (32%) were considered to have mild mitochondrial affection,9 patients (41%) had moderate mitochondrial affection, while 6 patients (27%) had severe mitochondrial affection. Four of the studied patients had no mitochondrial affection.Conclusion: Mitochondria affection is common in chronic liver disease. This mitochondrial affection might be responsible for some of the chronic liver disease manifestation such as easy fatiguability and steatosis

    Spectrophotometric determination of tizanidine and orphenadrine via ion pair complex formation using eosin Y

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    A simple, sensitive and rapid spectrophotometric method was developed and validated for the determination of two skeletal muscle relaxants namely, tizanidine hydrochloride (I) and orphenadrine citrate (II) in pharmaceutical formulations. The proposed method is based on the formation of a binary complex between the studied drugs and eosin Y in aqueous buffered medium (pH 3.5). Under the optimum conditions, the binary complex showed absorption maxima at 545 nm for tizanidine and 542 nm for orphenadrine. The calibration plots were rectilinear over concentration range of 0.5-8 μg/mL and 1-12 μg/mL with limits of detection of 0.1 μg/mL and 0.3 μg/mL for tizanidine and orphenadrine respectively. The different experimental parameters affecting the development and stability of the complex were studied and optimized. The method was successfully applied for determination of the studied drugs in their dosage forms; and to the content uniformity test of tizanidine in tablets

    Higher ethical objective (Maqasid al-Shari'ah) augmented framework for Islamic banks : assessing the ethical performance and exploring its determinants.

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    This study utilises higher objectives postulated in Islamic moral economy or the maqasid al-Shari’ah theoretical framework’s novel approach in evaluating the ethical, social, environmental and financial performance of Islamic banks. Maqasid al-Shari’ah is interpreted as achieving social good as a consequence in addition to well-being and, hence, it goes beyond traditional (voluntary) social responsibility. This study also explores the major determinants that affect maqasid performance as expressed through disclosure analysis. By expanding the traditional maqasid al-Shari’ah,, we develop a comprehensive evaluation framework in the form of a maqasid index, which is subjected to a rigorous disclosure analysis. Furthermore, in identifying the main determinants of the maqasid disclosure performance, panel data analysis is used by including several key variables alongside political and socio-economic environment, ownership structures, and corporate and Shari’ah governance-related factors. The sample includes 33 full-fledged Islamic banks from 12 countries for the period of 2008–2016. The findings show that although during the nine-year period the disclosure of maqasid performance of the sampled Islamic banks has improved, this is still short of ‘best practices’. Through panel data analysis, this study finds that the Muslim population indicator, CEO duality, Shari’ah governance, and leverage variables positively impact the disclosure of maqasid performance. However, the effect of GDP, financial development and human development index of the country, its political and civil rights, institutional ownership, and a higher share of independent directors have an overall negative impact on the maqasid performance. The findings reported in this study identify complex and multi-faceted relations between external market realities, corporate and Shari’ah governance mechanisms, and maqasid performance
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