Genotypic and computational sequence analysis of ALADIN gene causing Allgrove syndrome

Background: Allgrove syndrome is autosomal recessive disorder, the gene involved in this syndrome is known as ALADIN located close to type 2 keratin gene cluster on chromosome 12q13 whose function is to control the nucleocytoplasmic trafficking and also affects the nuclear pore complexes. Mutation in this gene cause triple A syndrome. The aim of research was to analyze the mutational changes in ALADIN gene, formation of 3D Structure of normal and mutated protein and differentiation of normal and mutated protein.Methods: Genotyping by using tetra arm PCR and Sequence analyses of coding region of ALADIN gene was done in two families having affected children with Allgrove’s syndrome.Results: Point mutation in exon 1 and alteration in 3D structure of protein was observed by using VMD (Visual molecular dynamics) that shows truncation, absence of few amino acid and structural modification of proteins which alters in transportation ability.Conclusion: It is concluded from the study that proper structure and function of NPC (nuclear pore complex) binding protein is necessary in normal body function and if any mutation is present in ALADIN gene it can cause symptoms of rare Allgrove’s syndrome.Keywords: ALADIN gene; 3D protein structure; Triple A syndrom

Health Care Associated Infections (HCAIs) a New Threat for World; U-Turn from Recovery to Death

Health care associated infections also termed as nosocomial infections are notable cause of morbidity and mortality especially in resource limited countries like Pakistan. Newborns and aged people have more probability of being infected by Health care associated infections because of immunosuppressant. Central line associated blood stream infections (CLABSI) are considered as one of the promising negotiator associated with Health Care associated infections. Improper health care setting and unaware medical staff play a championship protagonist in prevalence of health care associated infections. Standard hygienic measures should be adopted to reduce risk of Health care associated infections. So, there is a pressing need to take on control policies by Government to handle this dilemma. This chapter gives new intuition to healthcare associated microbes, infections and provides comprehensive detailed on ironic precaution to scientific community

Intraparotid Facial Nerve Schwannoma in a 40-Year-Old Male with Hearing Loss – A Case Report

Schwannoma is a benign tumor of axonal nerve sheath. Head and neck area, particularly parotid gland is an uncommon site for Schwannoma, however it can rarely arise from the intraparotid part of facial nerve and present as either a symptomless mass or facial paresis. Its diagnosis before surgical intervention is important for the conservation of parotid gland and facial nerve. On clinical examination and imaging studies, it can be misdiagnosed easily. FNAC is a helpful tool for its diagnosis. This entity should not be ignored while dealing with parotid masses. We present a case of a patient who came with the complaint of a parotid mass. Magnetic resonance imaging (MRI) scan suggested a parotid tumor which proved to be a spindle cell neoplasm on Fine Needle Aspiration Cytology (FNAC). A definite diagnosis of schwannoma of intraparotid facial nerve was made on histopathological examination of the excision sample

The Stromal Expression of CD-10 in Breast Carcinoma and its Association with Estrogen, Progesterone receptors, Her2Neu and Tumor Grade

Introduction: In previous studies, role of stromal component in epithelial malignancies has been highlighted. CD10 is a member of metalloproteinase family that breaks down the protein components of extracellular matrix and epithelial tissue remodeling thus playing an important role in carcinogenesis and metastasis. To evaluate CD 10 expression in breast carcinoma and assess its association with grade of the tumor, ER, PR and Her 2 Neu status. Methodology: The study was carried in Federal Government Polyclinic Hospital (FGPH) and Pakistan Institute of Medical Sciences (PIMS), Islamabadԁ. Immunohistochemical panel of CD 10, ER, PR and Her 2 was applied to 171 cases of invasive breast carcinoma. The association of CD 10 anԁ ER/PR status was evaluated. Results: Among 171 cases of breast carcinoma, 77.8% cases were CD-10 positive. A total of 65.5% of ER negative cases expressed strongly positive CD-10 in the stroma as compared to 37.2% of ER positive cases (P=0.001).  In 64.4% of PR negative cases expressed strong positivity of CD-10 in the stroma compareԁ with 37.5% (42/112) PR positive cases (P=0.001). The association of CD-10 with HER-2-NEU was not significant (P=0.749).  Association of high-grade tumor with CD 10 was not statistically significant (P=0.258). Conclusion: It was observed that CD10 expression is associated with negative ER, PR status and with higher grades of the tumors, showing its prognostic significance. Key Words: Breast cancer, CD 10, Estrogen receptors, HER2neu, Progesterone receptors &nbsp

Overall and gender-based negative predictive value of a normal gated myocardial perfusion SPECT study: a single center experience

A normal gated myocardial perfusion imaging (GMPI) has been found to have high diagnostic and negative predictive value (NPV) in western population. The goal of the present study was to evaluate the overall and gender-based NPV of a normal GMPI in local population.This is a prospective study conducted at Nuclear Cardiology Department of Karachi Institute of Heart Diseases (KIHD), Karachi from December 2008 till May 2009. All Patients (with intermediate risk) with a normal GMPI with adequate dynamic or dipyridamole stress were included and followed up for 18 months (mean 15 +/- A 3 months) for fatal or non-fatal infarctions.The mean ejection fraction (EF) of studied population was 69 +/- A 8% while mean end diastolic (EDV) and end systolic volume (ESV) were 71 +/- A 19 and 22 +/- A 11 ml, respectively. In studied female cohort, the mean EF (%), EDV (ml) and ESV (ml) were 71 +/- A 08, 64 +/- A 15 and 19 +/- A 09, respectively. In studied male cohort, the mean EF (%), EDV (ml) and ESV (ml) were 66 +/- A 06, 82 +/- A 18 and 27 +/- A 11, respectively. At 18 months follow-up, one fatal (male Patient) and one non-fatal MI (male Patient) were reported. The overall NPV was 99.4% over 18 months follow-up with an event rate of 0.6% (95% CI 0.03-1.16%) and annualized event rate of 0.3%. The NPV and annualized event in subgroup analyses, was similar for female and male (P = 0.213).We conclude that a normal GMPI with adequate stress in our population has high NPVs for major cardiac events as in western population. In addition, the prognostic utility of GMPI is similar for both men and women

Frequency and evaluation of the perceptions towards caesarean section among pregnant women attending public hospitals in Pakistan and the implications

Objective: There is increasing prevalence of caesarean sections (CS) worldwide; however, there are concerns about their rates in some countries including potential fears. Consequently, we aimed to determine the frequency of CS, and explore patient’s perception towards CS attending public hospitals in Pakistan, to provide future guidance. Methods: A two-phased study design (retrospective and cross sectional) was adopted. A retrospective study was conducted to assess the frequency of CS over one year among four public hospitals. A cross sectional study was subsequently conducted to determine patients’ perception towards CS attending the four tertiary care public hospitals in Quetta city, Pakistan, which is where most births take place. Results: Overall prevalence of CS was 13.1% across the four hospitals. 728 patients were approached and 717 responded to the survey. Although 78.8% perceived CS as dangerous, influenced by education (p=0.004), locality (p=0.001) and employment status (p=0.001), 74.5% of patients were in agreement that this is the best manner to save mother’s and baby’s lives if needed. 62% of respondents reported they would like to avoid CS if they could due to post operative pain and 58.9% preferred a normal delivery. There was also a significant association with education (p=0.001) and locality (p=0.001) where respondents considered normal vaginal delivery as painful. Conclusion: The overall frequency of CS approximates to WHO recommendations, although appreciable variation. When it comes to perception towards CS, women had limited information. There is a need to provide mothers with education during antenatal period, especially those with limited education, to accept CS where needed

Foliar Application of Gibberellin Alleviates Adverse Impacts of Drought Stress and Improves Growth, Physiological and Biochemical Attributes of Canola (Brassica napus L.)

Under the current climate change scenario, water stress is one of the key factors that reduce the production of crops. Gibberellic acid (GA3) is an efficient endogenous plant hormone that shows a vital role in plant growth and development. Production of canola (Brassica napus L.) and its oil contents are severely affected under drought stress. The present study was conducted to investigate the potential of GA3 in alleviating drought stress in canola. Three levels of GA3 (G0 = 0 mg L−1, G1 = 100 mg L−1, and G2 = 150 mg L−1) as foliar applications were applied under two drought-stress conditions (D1 for three days of drought stress and D2 for six days of drought stress) on two canola varieties (Punjab canola and Faisal canola). Irrigation was applied after 3 weeks of germination, while foliar application of GA3 was done at intervals of 4 and 5 weeks after germination. When comparing the output of all the GA3 treatments, it was noticed that in G0 = 0 mg L−1 (control plants), water-stress conditions markedly reduced plant production and seed oil contents but increased protein and linoleic acid. With the application of G2 = 150 mg L−1, the maximum values of plant height (90.83 cm), no. of siliqua plant−1 (15.50), seed siliqua−1 (15.55), siliqua length (5.08 cm), relative water contents (77.60%), yield plant−1 (0.46 g), chlorophyll a (0.62), carotenoid contents (39.52), and oleic acid contents (60.20) were recorded under drought stress. Based on these results, it is concluded that the adverse effect of drought stress on different yield parameters of canola could be ameliorated by the exogenous application of GA3 through foliar application at a dose of 150 mg L–1. Moreover, the same treatment improves the quality parameters, i.e., the oleic acid contents of the oil, obtained from the canola

Role of ACE and PAI-1 Polymorphisms in the Development and Progression of Diabetic Retinopathy.

In the present study we determined the association of angiotensin converting enzyme (ACE) and plasminogen activator inhibitor-1 (PAI-1) gene polymorphisms with diabetic retinopathy (DR) and its sub-clinical classes in Pakistani type 2 diabetic patients. A total of 353 diabetic subjects including 160 DR and 193 diabetic non retinopathy (DNR) as well as 198 healthy controls were genotyped by allele specific polymerase chain reaction (PCR) for ACE Insertion/Deletion (ID) polymorphism, rs4646994 in intron 16 and PAI-1 4G/5G (deletion/insertion) polymorphism, rs1799768 in promoter region of the gene. To statistically assess the genotype-phenotype association, multivariate logistic regression analysis was applied to the genotype data of DR, DNR and control individuals as well as the subtypes of DR. The ACE genotype ID was found to be significantly associated with DR (p = 0.009, odds ratio (OR) 1.870 [95% confidence interval (CI) = 1.04-3.36]) and its sub-clinical class non-proliferative DR (NPDR) (p = 0.006, OR 2.250 [95% CI = 1.098-4.620]), while PAI polymorphism did not show any association with DR in the current cohort. In conclusion in Pakistani population the ACE ID polymorphism was observed to be significantly associated with DR and NPDR, but not with the severe form of the disease i.e. proliferative DR (PDR)

Logistic regression analysis for rs4646994 and rs1799768 in <i>ACE</i> and <i>PAI</i> genes in Pakistani type 2 diabetic cohort.

<p>Logistic regression analysis for rs4646994 and rs1799768 in <i>ACE</i> and <i>PAI</i> genes in Pakistani type 2 diabetic cohort.</p

Demographic data of the patients genotyped for <i>ACE</i> and <i>PAI</i> polymorphisms in the present study.

<p>Demographic data of the patients genotyped for <i>ACE</i> and <i>PAI</i> polymorphisms in the present study.</p