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Sample records for gria2 predispose patients

  1. Genetic analysis of GRIA2 and GRIA4 genes in migraine.

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    Gasparini, Claudia F; Sutherland, Heidi G; Haupt, Larisa M; Griffiths, Lyn R

    2014-02-01

    Migraine is a brain disorder affecting ∼12% of the Caucasian population. Genes involved in neurological, vascular, and hormonal pathways have all been implicated in predisposing individuals to developing migraine. The migraineur presents with disabling head pain and varying symptoms of nausea, emesis, photophobia, phonophobia, and occasionally visual sensory disturbances. Biochemical and genetic studies have demonstrated dysfunction of neurotransmitters: serotonin, dopamine, and glutamate in migraine susceptibility. Glutamate mediates the transmission of excitatory signals in the mammalian central nervous system that affect normal brain function including cognition, memory and learning. The aim of this study was to investigate polymorphisms in the GRIA2 and GRIA4 genes, which encode subunits of the ionotropic AMPA receptor for association in an Australian Caucasian population. Genotypes for each polymorphism were determined using high resolution melt analysis and the RFLP method. Statistical analysis showed no association between migraine and the GRIA2 and GRIA4 polymorphisms investigated. Although the results of this study showed no significant association between the tested GRIA gene variants and migraine in our Australian Caucasian population further investigation of other components of the glutamatergic system may help to elucidate if there is a relationship between glutamatergic dysfunction and migraine. © 2013 American Headache Society.

  2. Zebrafish Adar2 Edits the Q/R site of AMPA receptor Subunit gria2α transcript to ensure normal development of nervous system and cranial neural crest cells.

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    I-Chen Li

    Full Text Available BACKGROUND: Adar2 deaminates selective adenosines to inosines (A-to-I RNA editing in the double-stranded region of nuclear transcripts. Although the functions of mouse Adar2 and its biologically most important substrate gria2, encoding the GluA2 subunit of AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor, have been extensively studied, the substrates and functions of zebrafish Adar2 remain elusive. METHODS/PRINCIPAL FINDINGS: Expression of Adar2 was perturbed in the adar2 morphant (adar2MO, generated by antisense morpholio oligonucleotides. The Q/R editing of gria2α was reduced in the adar2MO and was enhanced by overexpression of Adar2, demonstrating an evolutionarily conserved activity between zebrafish and mammalian Adar2 in editing the Q/R site of gria2. To delineate the role of Q/R editing of gria2α in the developmental defects observed in the adar2MO, the Q/R editing of gria2α was specifically perturbed in the gria2αQRMO, generated by a morpholio oligonucleotide complementary to the exon complementary sequence (ECS required for the Q/R editing. Analogous to the adar2-deficient and Q/R-editing deficient mice displaying identical neurological defects, the gria2αQRMO and adar2MO displayed identical developmental defects in the nervous system and cranial cartilages. Knockdown p53 abolished apoptosis and partially suppressed the loss of spinal cord motor neurons in these morphants. However, reducing p53 activity neither replenished the brain neuronal populations nor rescued the developmental defects. The expressions of crestin and sox9b in the neural crest cells were reduced in the adar2MO and gria2αQRMO. Overexpressing the edited GluA2αR in the adar2MO restored normal expressions of cresting and sox9b. Moreover, overexpressing the unedited GluA2αQ in the wild type embryos resulted in reduction of crestin and sox9b expressions. These results argue that an elevated GluA2αQ level is sufficient for generating the

  3. De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

    DEFF Research Database (Denmark)

    Martin, Sonja; Chamberlin, Adam; Shinde, Deepali N

    2017-01-01

    Using trio whole-exome sequencing, we have identified de novo heterozygous pathogenic variants in GRIA4 in five unrelated individuals with intellectual disability and other symptoms. GRIA4 encodes an AMPA receptor subunit known as GluR4, which is found on excitatory glutamatergic synapses...... and is important for learning and memory. Four of the variants are located in the highly conserved SYTANLAAF motif in the transmembrane protein M3, and the fifth is in an extra-cellular domain. Molecular modeling of the altered protein showed that three of the variants in the SYTANLAAF motif orient toward...... information and genetic results, and the fact that other subunits of the AMPA receptor have already been associated with neurodevelopmental disorders, we suggest that pathogenic de novo variants in GRIA4 lead to intellectual disability with or without seizures, gait abnormalities, problems of social behavior...

  4. Identification of an ionotropic glutamate receptor AMPA1/GRIA1 polymorphism in crossbred beef cows differing in fertility.

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    Cushman, R A; Miles, J R; Rempel, L A; McDaneld, T G; Kuehn, L A; Chitko-McKown, C G; Nonneman, D; Echternkamp, S E

    2013-06-01

    A proposed functional polymorphism in the ionotropic glutamate receptor AMPA1 (GRIA1) has been reported to influence antral follicle numbers and fertility in cows. Repeat breeder cows that fail to produce a calf in multiple seasons have been reported to have reduced numbers of small (1 to 3 mm) antral follicles in their ovaries. Therefore, we tested the hypothesis that this GRIA1 polymorphism was affecting antral follicle numbers in repeat breeder cows. Repeat breeder cows (n = 64) and control cows (n = 72) that had always produced a calf were housed in a dry lot and observed twice daily for behavioral estrus. Blood samples were collected, and cows were genotyped for this GRIA1 polymorphism and for a polymorphism in the GnRH receptor (GnRHR) that was proposed to influence age at puberty. On d 3 to 8 after estrus cows were slaughtered, and reproductive organs were collected to determine antral follicle count, ovary size, and uterine horn diameter. Repeat breeder cows were older at first calving than control cows (P = 0.006). The length (P = 0.03) and height (P = 0.02) of the ovary contralateral to the corpus luteum (CL) were greater in control cows than repeat breeder cows. The endometrial diameter in the horn ipsilateral to the CL was greater in the control cows than the repeat breeder cows. Repeat breeder cows had fewer small (1 to 5 mm) antral follicles than control cows (P = 0.003); however, there was no association between GRIA1 genotype and antral follicle number. The GnRHR polymorphism was associated with age at first calving because cows that were homozygous for the C allele had a greater age at first calving than heterozygous cows or cows that were homozygous for the T allele (P = 0.01). In the granulosa cells from small (1 to 5 mm) antral follicles, mRNA abundances of 2 markers of oocyte quality, anti-Müllerian hormone and pentraxin 3, did not differ between fertility groups (P ≥ 0.12). We conclude that this GRIA1 polymorphism exists in beef cows but

  5. Predisposing factors for early retirement in patients with schizophrenia in Germany.

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    Schnabel, Reinhard; Friedel, Heiko; Erfurth, Andreas; Angermayer, Matthias; Clouth, Johannes; Eichmann, Florian

    2008-08-01

    Although early retirement causes major changes in the life of schizophrenic patients and is among the major cost factors to be covered by payers, the causes leading to early retirement of schizophrenic patients have not been investigated in detail. Therefore, the objective of this retrospective non-interventional case-control study was to generate hypotheses on predisposing factors for early retirement in schizophrenia. Logistic regression was used to explore potential predisposing parameters with regard to their effect on the outcome early retirement. As the study results indicate, schizophrenia severity, assistance or care in the patient's everyday life, age and antipsychotic treatment with typical antipsychotics are linked to the occurrence of early retirement. Further research should be planned to confirm or refute the hypotheses determined in this retrospective analysis and to determine whether atypical antipsychotics could help to avoid early retirement and to improve the situation of schizophrenic patients.

  6. Predisposing cardiac conditions, interventional procedures, and antibiotic prophylaxis among patients with infective endocarditis.

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    Chirillo, Fabio; Faggiano, Pompilio; Cecconi, Moreno; Moreo, Antonella; Squeri, Angelo; Gaddi, Oscar; Cecchi, Enrico

    2016-09-01

    Efficacy and safety of antibiotic prophylaxis (AP) for prevention of infective endocarditis (IE) in patients with predisposing cardiac condition (PCC) undergoing invasive procedures is still debated. We sought to assess the prevalence of PCC, the type of interventional procedures preceding the onset of symptoms, and the usefulness of AP in a large cohort of consecutive patients with definite IE. We examined 677 (median age 65.34 years; male 492 [73%]) consecutive patients with IE enrolled from July 2007 through 2010 into the Italian Registry of Infective Endocarditis. Predisposing cardiac condition was present in 341 patients (50%).Thirty-two patients (4.7%) underwent dental procedures. Of 20 patients with PCC undergoing dental procedure, 13 had assumed AP. Viridans group streptococci were isolated from blood cultures in 8 of 20 patients with PCC and prior dental procedure. Nondental procedures preceded IE in 139 patients (21%). They were significantly older and had more comordibities compared with patients undergoing dental procedures. Predisposing cardiac condition was identified in 91 patients. Perioperative antimicrobial prophylaxis was administered to 67 patients. Staphylococcus aureus was the most frequent causative agent. Cardiac surgery was necessary in 85 patients (20 with prior dental and 65 with nondental procedure). Surgical mortality (12% vs 0%, P = .03) and hospital mortality (23% vs 3%, P = .001) were significantly larger among patients with nondental procedures. In a large unselected cohort of patients with IE, the incidence of preceding dental procedures was minimal. The number of cases potentially preventable by means of AP was negligible. Nondental procedures were more frequent than dental procedures and were correlated with poorer prognosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Predisposing Factors of Ischemic Colitis: Data from 14 Years of Experience in a Single Center

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    Hyun Il Seo

    2017-01-01

    Full Text Available Background and Aims. While several case reports on ischemic colitis (IC suggest the presence of predisposing causative factors, a few studies have investigated the predisposing factors in IC. This study aimed to identify the characteristics of patients with IC, particularly focusing on the predisposing factors. Methods. We conducted a single-center, retrospective analysis of 159 patients with IC. Clinical characteristics, laboratory data, endoscopic findings, and medical records were reviewed. Data were compared between groups of patients defined according to the predisposing factors. The predisposing factors are defined as temporary states or episodic events occurring within a week before the development of IC such as colonoscopy, enema, use of laxatives, heavy drinking, pancreatitis, shock, and burn. Results. Compared to the group of patients without predisposing factors of IC, the group of patients with predisposing factors was characterized by a relatively higher prevalence of male sex (56.9% versus 33.3%, p=0.005, younger age (60.9 ± 15.4 versus 67.2 ± 13.4 years, p=0.010, lower incidence of hypertension (43.1% versus 60.2%, p=0.044, and fewer risk factors (1.24 ± 1.18 versus 1.82 ± 1.22, p=0.005. Conclusions. Among men with predisposing factors, IC may develop even at a relatively younger age and in the absence of multiple risk factors, suggesting that predisposing factors may be involved in the pathogenesis of IC.

  8. PREVALENCE OF CELIAC DISEASE PREDISPOSING GENOTYPES, INCLUDING HLA-DQ2.2 VARIANT, IN BRAZILIAN CHILDREN.

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    Selleski, Nicole; Almeida, Lucas Malta; Almeida, Fernanda Coutinho de; Pratesi, Claudia Beatriz; Nóbrega, Yanna Karla de Medeiros; Gandolfi, Lenora

    2018-01-01

    Celiac disease is an autoimmune enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. Almost all celiac patients carry immune recognition genes coding for HLA-DQ2.5 and DQ8 heterodimers. Over the last few years, great importance has been given to HLA-DQ2.2 as probable predisposing variant, although controversies still exist regarding its relevance. The aim of our study was to determine the possible existence of an association between HLA-DQ2.2 and celiac disease in Brazilian children by analyzing the prevalence of the predisposing variants for celiac disease in a representative group of children of a population in which this determination is still missing. HLA-DQ typing was performed in samples from a group of celiac (n=100) and non-celiac children (n=110). All samples were tested for the presence of the following variants: DQA1*05-DQB1*02 (DQ2.5), DQA1*03-DQB1*03:02 (DQ8) and DQA1*02:01-DQB1*02:02 (DQ2.2). Fisher`s exact test was used for statistical analysis. In the group of 100 celiac children, 78 (78%) were positive for DQ2, 13 (13 %) were DQ2/DQ8 and 6 (6%) were DQ8 positives. The HLA-DQ pattern in the 110 non-celiac children was as follows: positive for DQ2 in 33 (29.9%) samples, in 2 (1.8 %) was positive for DQ2/DQ8 and in 15 (13.6%) was positive for DQ8. We found significant differences between the distribution of some but not all of the analyzed alleles when comparing celiac and non-celiac children. The genotyping of celiac disease HLA-DQ predisposing alleles showed similarities with HLA-DQ patterns found in both European and non-European populations, which may be a reflection of the miscegenation, which gave origin to the current Brazilian population. No significant association was found between DQ2.2 variant and celiac disease in the studied population.

  9. PREVALENCE OF CELIAC DISEASE PREDISPOSING GENOTYPES, INCLUDING HLA-DQ2.2 VARIANT, IN BRAZILIAN CHILDREN

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    Nicole SELLESKI

    Full Text Available ABSTRACT BACKGROUND: Celiac disease is an autoimmune enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. Almost all celiac patients carry immune recognition genes coding for HLA-DQ2.5 and DQ8 heterodimers. Over the last few years, great importance has been given to HLA-DQ2.2 as probable predisposing variant, although controversies still exist regarding its relevance. OBJECTIVE: The aim of our study was to determine the possible existence of an association between HLA-DQ2.2 and celiac disease in Brazilian children by analyzing the prevalence of the predisposing variants for celiac disease in a representative group of children of a population in which this determination is still missing. METHODS: HLA-DQ typing was performed in samples from a group of celiac (n=100 and non-celiac children (n=110. All samples were tested for the presence of the following variants: DQA1*05-DQB1*02 (DQ2.5, DQA1*03-DQB1*03:02 (DQ8 and DQA1*02:01-DQB1*02:02 (DQ2.2. Fisher`s exact test was used for statistical analysis. RESULTS: In the group of 100 celiac children, 78 (78% were positive for DQ2, 13 (13 % were DQ2/DQ8 and 6 (6% were DQ8 positives. The HLA-DQ pattern in the 110 non-celiac children was as follows: positive for DQ2 in 33 (29.9% samples, in 2 (1.8 % was positive for DQ2/DQ8 and in 15 (13.6% was positive for DQ8. We found significant differences between the distribution of some but not all of the analyzed alleles when comparing celiac and non-celiac children. CONCLUSION: The genotyping of celiac disease HLA-DQ predisposing alleles showed similarities with HLA-DQ patterns found in both European and non-European populations, which may be a reflection of the miscegenation, which gave origin to the current Brazilian population. No significant association was found between DQ2.2 variant and celiac disease in the studied population.

  10. SGLT2 Inhibitors May Predispose to Ketoacidosis.

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    Taylor, Simeon I; Blau, Jenny E; Rother, Kristina I

    2015-08-01

    Sodium glucose cotransporter 2 (SGLT2) inhibitors are antidiabetic drugs that increase urinary excretion of glucose, thereby improving glycemic control and promoting weight loss. Since approval of the first-in-class drug in 2013, data have emerged suggesting that these drugs increase the risk of diabetic ketoacidosis. In May 2015, the Food and Drug Administration issued a warning that SGLT2 inhibitors may lead to ketoacidosis. Using PubMed and Google, we conducted Boolean searches including terms related to ketone bodies or ketoacidosis with terms for SGLT2 inhibitors or phlorizin. Priority was assigned to publications that shed light on molecular mechanisms whereby SGLT2 inhibitors could affect ketone body metabolism. SGLT2 inhibitors trigger multiple mechanisms that could predispose to diabetic ketoacidosis. When SGLT2 inhibitors are combined with insulin, it is often necessary to decrease the insulin dose to avoid hypoglycemia. The lower dose of insulin may be insufficient to suppress lipolysis and ketogenesis. Furthermore, SGLT2 is expressed in pancreatic α-cells, and SGLT2 inhibitors promote glucagon secretion. Finally, phlorizin, a nonselective inhibitor of SGLT family transporters decreases urinary excretion of ketone bodies. A decrease in the renal clearance of ketone bodies could also increase the plasma ketone body levels. Based on the physiology of SGLT2 and the pharmacology of SGLT2 inhibitors, there are several biologically plausible mechanisms whereby this class of drugs has the potential to increase the risk of developing diabetic ketoacidosis. Future research should be directed toward identifying which patients are at greatest risk for this side effect and also to optimizing pharmacotherapy to minimize the risk to patients.

  11. Bowel Angioedema Associated With Iodinated Contrast Media: Incidence and Predisposing Factors.

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    Seo, Nieun; Chung, Yong Eun; Lim, Joon Seok; Song, Mi Kyung; Kim, Myeong-Jin; Kim, Ki Whang

    2017-09-01

    Bowel angioedema is an acute adverse reaction to iodinated contrast media (CM) that involves the gastrointestinal tract. We aimed to investigate the incidence and predisposing factors of iodinated CM-associated bowel angioedema during computed tomography (CT) examinations. This study was approved by our institutional review board, and informed consent was waived due to its retrospective design. From July 2013 to July 2015, adult patients with a history of adverse reactions to iodinated CM during CT (group A, n = 427) and patients without adverse reactions matched for age and sex with the propensity-score matching method (group B, n = 427) were studied. Contrast media-associated bowel angioedema was determined when bowel wall thickness increased after contrast enhancement compared with the precontrast scan. Potential predisposing factors including patient demographics, symptoms and time of adverse reactions, and CM-related factors were compared between patients with and without angioedema in group A. In addition, the incidence of bowel angioedema was compared between groups A and B. The incidence of CM-associated bowel angioedema in group A was 3.3% (14/427) in the per-patient analysis and 2.6% (15/578) in the per-examination analysis. The CM-associated bowel angioedema involved the distal duodenum and/or proximal jejunum and showed long-segmental circumferential bowel wall thickening on CT. None of the studied predisposing factors was different between patients with and without bowel angioedema (P > 0.05). The incidence of CM-associated bowel angioedema in group B was 1.9% (8/427) and 1.7% (8/458) for per-patient and per-examination analyses, respectively, and these rates were not significantly different between groups A and B (P = 0.346 and P = 0.370, respectively). The incidence of CM-associated bowel angioedema during CT was 1.7% to 3.3%, and none of the studied predisposing factors was associated with bowel angioedema.

  12. Primary Candida guilliermondii Infection of the Knee in a Patient without Predisposing Factors

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    Gun Woo Lee

    2012-01-01

    Full Text Available Isolated primary candidal infection of joint is extremely rare, with only a few reported cases. It occurs as a result of accidental implantations of fungus during traumatic procedures, such as surgery, and is usually reported in patients with predisposing factors such as immunosuppression, malignancy, and drug abuse. If left untreated, irreversible deformity and pain with severe osteoarticular destruction occur. Thus, early diagnosis and treatment are important. This paper presents a case of 72-year-old man with primary C. guilliermondii infection of knee joint without predisposing factors and previous traumatic procedures, who was misdiagnosed with advanced degenerative osteoarthritis. Our case is the second case of primary C. guilliermondii arthritis of knee to be reported in the English-language literature and the first to be successfully treated with total knee arthroplasty following IV amphotericin B and oral fluconazole. Primary candidal infection of joint is generally asymptomatic or involves only mild pain and swelling in the affected knee. Thus, although the majority of knee joint infections are of a pyogenic or tuberculous origin, if a patient complains of mild pain and swelling in the knee and has mild signs of infection, the possibility of fungal infection should be considered.

  13. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

    NARCIS (Netherlands)

    Demaerel, Wolfram; Hestand, Matthew S.; Vergaelen, Elfi; Swillen, Ann; López-Sánchez, Marcos; Pérez-Jurado, Luis A.; McDonald-Mcginn, Donna M.; Zackai, Elaine; Emanuel, Beverly S.; Morrow, Bernice E.; Breckpot, Jeroen; Devriendt, Koenraad; Vermeesch, Joris R.; Antshel, Kevin M.; Arango, Celso; Armando, Marco; Bassett, Anne S.; Bearden, Carrie E.; Boot, Erik; Bravo-Sanchez, Marta; Breetvelt, Elemi; Busa, Tiffany; Butcher, Nancy J.; Campbell, Linda E.; Carmel, Miri; Chow, Eva W C; Crowley, T. Blaine; Cubells, Joseph; Cutler, David; Demaerel, Wolfram; Digilio, Maria Cristina; Duijff, Sasja; Eliez, Stephan; Emanuel, Beverly S.; Epstein, Michael P.; Evers, Rens; Fernandez Garcia-Moya, Luis; Fiksinski, Ania; Fraguas, David; Fremont, Wanda; Fritsch, Rosemarie; Garcia-Minaur, Sixto; Golden, Aaron; Gothelf, Doron; Guo, Tingwei; Gur, Ruben C.; Gur, Raquel E.; Heine-Suner, Damian; Hestand, Matthew; Hooper, Stephen R.; Kates, Wendy R.; Kushan, Leila; Laorden-Nieto, Alejandra; Maeder, Johanna; Marino, Bruno; Marshall, Christian R.; McCabe, Kathryn; McDonald-Mcginn, Donna M.; Michaelovosky, Elena; Morrow, Bernice E.; Moss, Edward; Mulle, Jennifer; Murphy, Declan; Murphy, Kieran C.; Murphy, Clodagh M.; Niarchou, Maria; Ornstein, Claudia; Owen, Michael J; Philip, Nicole; Repetto, Gabriela M.; Schneider, Maude; Shashi, Vandana; Simon, Tony J.; Swillen, Ann; Tassone, Flora; Unolt, Marta; Van Amelsvoort, Therese; van den Bree, Marianne B M; Van Duin, Esther; Vergaelen, Elfi; Vermeesch, Joris R.; Vicari, Stefano; Vingerhoets, Claudia; Vorstman, Jacob; Warren, Steve; Weinberger, Ronnie; Weisman, Omri; Weizman, Abraham; Zackai, Elaine; Zhang, Zhengdong; Zwick, Michael

    2017-01-01

    Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have

  14. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

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    Demaerel, Wolfram; Hestand, Matthew S; Vergaelen, Elfi; Swillen, Ann; López-Sánchez, Marcos; Pérez-Jurado, Luis A; McDonald-McGinn, Donna M; Zackai, Elaine; Emanuel, Beverly S; Morrow, Bernice E; Breckpot, Jeroen; Devriendt, Koenraad; Vermeesch, Joris R

    2017-10-05

    Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no such inversions have been uncovered as of yet. Using fiber-FISH, we demonstrate that parents transmitting the de novo 3 Mb LCR22A-D 22q11.2 deletion, the reciprocal duplication, and the smaller 1.5 Mb LCR22A-B 22q11.2 deletion carry inversions of LCR22B-D or LCR22C-D. Hence, the inversions predispose chromosome 22q11.2 to meiotic rearrangements and increase the individual risk for transmitting rearrangements. Interestingly, the inversions are nested or flanking rather than coinciding with the deletion or duplication sizes. This finding raises the possibility that inversions are a prerequisite not only for 22q11.2 rearrangements but also for all NAHR-mediated genomic disorders. Copyright © 2017. Published by Elsevier Inc.

  15. Predisposing Effect of Elbow Alignment on the Elbow Fracture Type in Children.

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    Kang, Seungcheol; Park, Soo-Sung

    2015-08-01

    Under the hypothesis that the elbow alignment, namely the carrying angle, could predispose individuals to a specific type of pediatric elbow fracture after a fall onto an outstretched arm, we investigated the relationship between radiographic carrying angle and elbow fracture type in children. Retrospective case-control study. Level I pediatric trauma center. We reviewed 374 children who were diagnosed with supracondylar fracture (SCF, n = 208), lateral condylar fracture (LCF, n = 132), and radial neck fracture (RNF, n = 34). The association between the radiographic carrying angle and the fracture type was investigated. To adjust for bias, 2 statistical methods were used: multivariate analysis using a baseline-category logistic model and a case-matching method using propensity score analysis. In the multivariate analysis, with SCF patients set as the baseline category, a more valgus-deviated elbow (increased carrying angle, P = 0.011) predisposed individuals to RNF, whereas a more varus-deviated elbow (decreased carrying angle, P predisposed them to LCF. In the case-matched analysis, there were also significant differences in carrying angles between RNF and case-matched SCF patients (14.3 vs. 11.4 degrees, P = 0.013) and between LCF and case-matched SCF patients (7.7 vs. 11.7 degrees, P fall onto an outstretched elbow, could be a predisposing factor for specific types of pediatric elbow fracture. The results provide the additional information about the injury mechanisms of pediatric elbow fracture and may deepen our understanding of the fractures. Prognostic Level III. See Instructions for Authors for a complete description of levels of evidence.

  16. Study of β2-Glycoprotein I Polymorphisms in Patients With Chronic Renal Failure as a Predisposing Factor for the Development of Anti-β2-Glycoprotein I Auto-Antibodies.

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    Serrano, M; Cabrera-Marante, O; Martínez-Flores, J A; Morales, P; Pérez, D; Mora, S; García, F; González, E; Paz-Artal, E; Morales, J M; Serrano, A

    2016-11-01

    Immunoglobulin (Ig)A anti-β 2 -glycoprotein I (aB2GP1) antibodies are associated with thrombotic events, cardiovascular morbidity, and death in dialysis patients. About 30% of patients with chronic renal disease are positive for IgA aB2GP1; however, the origin of these antibodies is unknown. It has been speculated that dialysis membranes, age, or etiology of renal base disease are possible precipitating factors, although these factors do not appear to be the source of antibodies. B2GP1 is a protein of 326 amino acids grouped into five domains. Eight polymorphisms have been described; the most important are Val/Leu 247 , which appears to predispose aB2GP1 antibody production in patients with anti-phospholipid syndrome, and Trp/Ser 316 , which appears to have protective antibody production of aB2GP1. DNA samples from 92 patients with renal failure on hemodialysis were randomly collected with a 1:1 ratio for the positivity for IgA aB2GP1. Forty-six samples were positive for IgA aB2GP1 (group 1) and 46 negative for IgA aB2GP1 (group 2). All samples were anonymized to study polymorphism Val/Leu 247 and polymorphism Trp/Ser 316 . No significant differences were observed between those who were positive or negative for IgA aB2GP1 in patients with renal failure treated with hemodialysis and the polymorphism located in codons 247 and 316. The two groups of patients have the same prevalence in polymorphisms 247 and 316, and therefore there appears not to be a genetic predisposition in our population. New trigger factors must be studied. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. The predisposing factors for the heterotopic ossification after cervical artificial disc replacement.

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    Yi, Seong; Shin, Dong Ah; Kim, Keung Nyun; Choi, Gwihyun; Shin, Hyun Chul; Kim, Keun Su; Yoon, Do Heum

    2013-09-01

    Heterotopic ossification (HO) is defined as a formation of bone outside the skeletal system. The reported HO occurrence rate in cervical artificial disc replacement (ADR) is unexpectedly high and is known to vary. However, the predisposing factors for HO in cervical ADR have not yet been elucidated. Investigation of the predisposing factors of HO in cervical arthroplasty and the relationship between degeneration of the cervical spine and HO occurrence. Retrospective study to discover predisposing factors of HO in cervical arthroplasty. A total of 170 patients who underwent cervical ADR were enrolled including full follow-up clinical and radiologic data. Radiologic outcomes were assessed by identification of HOs according to McAfee's classifications. This study enrolled a total of 170 patients who underwent cervical ADR. Pre-existing degenerative change included anterior or posterior osteophytes, ossification of the anterior longitudinal ligament, posterior longitudinal ligament, or ligamentum nuchae. The relationships between basic patient data, pre-existing degenerative change, and HO were investigated using linear logistic regression analysis. Among all 170 patients, HO was found in 69 patients (40.6%). Among the postulated predisposing factors, only male gender and artificial disc device type were shown to be statistically significant. Unexpectedly, preoperative degenerative changes in the cervical spine exerted no significant influence on the occurrence of HOs. The odds ratio of male gender compared with female gender was 2.117. With regard to device type, the odds ratios of Mobi-C (LDR medical, Troyes, France) and ProDisc-C (Synthes, Inc., West Chester, PA, USA) were 5.262 and 7.449, respectively, compared with the Bryan disc. Definite differences in occurrence rate according to the gender of patients and the prosthesis type were identified in this study. Moreover, factors indefinably expected to influence HO in the past were not shown to be risk factors

  18. Emphysematous pancreatitis predisposed by Olanzapine

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    Sukhen Samanta

    2014-01-01

    Full Text Available A 32-year-old male presented to our intensive care unit with severe abdominal pain and was diagnosed as acute pancreatitis after 2 months of olanzapine therapy for bipolar disorder. His serum lipase was 900 u/L, serum triglyceride 560 mg/dL, and blood sugar, fasting and postprandial were 230 and 478 mg/dL, respectively on admission. Contrast enhanced computed tomography (CECT of abdomen was suggestive of acute pancreatitis. Repeat CECT showed gas inside pancreas and collection in peripancreatic area and patient underwent percutaneous drainage and antibiotics irrigation through the drain into pancreas. We describe the rare case of emphysematous pancreatitis due to development of diabetes, hypertriglyceridemia and immunosuppression predisposed by short duration olanzapine therapy.

  19. Male non-insulin users with type 2 diabetes mellitus are predisposed to gastric corpus-predominant inflammation after H. pylori infection.

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    Yang, Yao-Jong; Wu, Chung-Tai; Ou, Horng-Yih; Lin, Chin-Han; Cheng, Hsiu-Chi; Chang, Wei-Lun; Chen, Wei-Ying; Yang, Hsiao-Bai; Lu, Cheng-Chan; Sheu, Bor-Shyang

    2017-10-30

    Both H. pylori infection and diabetes increase the risk of gastric cancer. This study investigated whether patients with type 2 diabetes mellitus (T2DM) and H. pylori infection had more severe corpus gastric inflammation and higher prevalence of precancerous lesions than non-diabetic controls. A total of 797 patients with type 2 diabetes mellitus were screened for H. pylori, of whom 264 had H. pylori infection. Of these patients, 129 received esophagogastroduodenoscopy to obtain topographic gastric specimens for gastric histology according to the modified Updated Sydney System, corpus-predominant gastritis index (CGI), Operative Link on Gastritis Assessment, and Operative Link on Gastric Intestinal Metaplasia Assessment. Non-diabetic dyspeptic patients who had H. pylori infection confirmed by esophagogastroduodenoscopy were enrolled as controls. The male as well as total T2DM patients had higher acute/chronic inflammatory and lymphoid follicle scores in the corpus than non-diabetic controls (p H. pylori-infected patients with type 2 diabetes mellitus. Patients with type 2 diabetes mellitus and H. pylori infection had more severe corpus gastric inflammation than non-diabetic controls. Moreover, male gender and non-insulin users of T2DM patients were predisposed to have corpus-predominant gastritis after H. pylori infection. ClinicalTrial: NCT02466919 , retrospectively registered may 17, 2015.

  20. Predisposing factors to phlebitis in patients with peripheral intravenous catheters: a descriptive study.

    Science.gov (United States)

    Uslusoy, Esin; Mete, Samiye

    2008-04-01

    The purpose of this study was to investigate the predisposing factors in the development of phlebitis in peripheral intravenous (IV) catheterization sites in patients treated with a variety of IV infusion solutions and drugs. Systematic observation of 568 IV sites inserted for fluid infusion and drug administration in 355 patients in the Department of General Surgery of a University Hospital in Turkey. A data collection tool was based on standards established by the Infusion Nurses Society. Patients' infusion sites were monitored every 24 h during treatment and for 48 h after discontinuation of the IV. In contrast to the usual findings in the literature, the authors found that infusion through an infusion pump and insertion of catheters in the veins around the elbow increased the risk of phlebitis. Also, the number of times infusions were started led to an increased rate of phlebitis. However, conflicting results were obtained about the relation between phlebitis, gender, and catheter size. Phlebitis causes sepsis, pain, additional diagnostic investigations, and treatments, and may lead to increased duration of hospitalization, patient's stress level, and financial burden, as well as increasing staff workload. Advanced practice nurses need to be aware of the factors that increase the likelihood of phlebitis and take appropriate measures to prevent it.

  1. Groin hematoma after electrophysiological procedures-incidence and predisposing factors.

    Science.gov (United States)

    Dalsgaard, Anja Borgen; Jakobsen, Christina Spåbæk; Riahi, Sam; Hjortshøj, Søren

    2014-10-01

    We evaluated the incidence and predisposing factors of groin hematomas after electrophysiological (EP) procedures. Prospective, observational study, enrolling consecutive patients after EP procedures (Atrial fibrillation: n = 151; Supraventricular tachycardia/Diagnostic EP: n = 82; Ventricular tachycardia: n = 18). Patients underwent manual compression for 10 min and 3 h post procedural bed rest. AF ablations were performed with INR 2-3, ACT > 300, and no protamine sulfate. Adhesive pressure dressings (APDs) were used if sheath size ≥ 10F; procedural time > 120 min; and BMI > 30. Patient-reported hematomas were recorded by a telephone follow-up after 2 weeks. Hematoma developed immediately in 26 patients (10%) and after 14 days significant hematoma was reported in 68 patients (27%). Regression analysis on sex, age, BMI 25, ACT 300, use of APD, sheath size and number, and complicated venous access was not associated with hematoma, either immediately after the procedure or after 14 days. Any hematoma presenting immediately after procedures was associated with patient-reported hematomas after 14 days, odds ratio 18.7 (CI 95%: 5.00-69.8; P hematoma immediately after EP procedures was the sole predictor of patient-reported hematoma after 2 weeks. Initiatives to prevent groin hematoma should focus on the procedure itself as well as post-procedural care.

  2. Predisposal Management of Radioactive Waste. General Safety Requirements Pt. 5

    International Nuclear Information System (INIS)

    2010-01-01

    There are a large number of facilities and activities around the world in which radioactive material is produced, handled and stored. This Safety Requirements publication presents international consensus requirements for the management of radioactive waste prior to its disposal. It provides the safety imperatives on the basis of which facilities can be designed, operated and regulated. The publication is supported by a number of Safety Guides that provide up to date recommendations and guidance on best practices for management of particular types of radioactive waste, for storage of radioactive waste, for assuring safety by developing safety cases and supporting safety assessments, and for applying appropriate management systems. Contents: 1. Introduction; 2. Protection of human health and the environment; 3. Responsibilities associated with the predisposal management of radioactive waste; 4. Steps in the predisposal management of radioactive waste; 5. Development and operation of predisposal radioactive waste management facilities and activities; Annex: Predisposal management of radioactive waste and the fundamental safety principles.

  3. Predisposal Management of Radioactive Waste. General Safety Requirements Pt. 5

    International Nuclear Information System (INIS)

    2009-01-01

    There are a large number of facilities and activities around the world in which radioactive material is produced, handled and stored. This Safety Requirements publication presents international consensus requirements for the management of radioactive waste prior to its disposal. It provides the safety imperatives on the basis of which facilities can be designed, operated and regulated. The publication is supported by a number of Safety Guides that provide up to date recommendations and guidance on best practices for management of particular types of radioactive waste, for storage of radioactive waste, for assuring safety by developing safety cases and supporting safety assessments, and for applying appropriate management systems. Contents: 1. Introduction; 2. Protection of human health and the environment; 3. Responsibilities associated with the predisposal management of radioactive waste; 4. Steps in the predisposal management of radioactive waste; 5. Development and operation of predisposal radioactive waste management facilities and activities; Annex: Predisposal management of radioactive waste and the fundamental safety principles.

  4. Predisposing factors and histopathological variants of cutaneous squamous cell carcinoma: Experience from a North Indian teaching hospital

    Directory of Open Access Journals (Sweden)

    Geeti Khullar

    2016-01-01

    Full Text Available Background: Squamous and basal cell carcinomas together constitute the majority of non-melanoma skin cancers. These malignancies are infrequent in Indians as compared to the white skinned population. Literature on squamous cell carcinoma in dark skin is limited. Aim: To analyze the risk factors and to characterize the histopathological subtypes of cutaneous squamous cell carcinoma in Indian patients in an area, non-endemic for arsenicosis. Methods: A retrospective analysis of data from January 2003 to August 2013 was performed to evaluate the predisposing factors and histopathological types of cutaneous squamous cell carcinoma at the Postgraduate Institute of Medical Education and Research (PGIMER, Chandigarh. Demographic and disease characteristics such as age, gender and predisposing factors, particularly premalignant dermatoses were recorded and histopathology slides were reviewed. Results: Of the 13,426 skin biopsy specimens received during the 10-year period, there were 82 (0.6% cases of squamous cell carcinoma and 170 (1.7% of basal cell carcinoma. The mean age at diagnosis of cutaneous squamous cell carcinoma was 53.7 years and the male to female ratio was 2:1. The most common site of involvement was the lower limbs in 34 (41.5% patients. Marjolin's ulcer was present in 36 (43.9% cases. No predisposing factor was identified in 35 (42.7% patients. Histopathologically, the tumors were classified most commonly as squamous cell carcinoma not otherwise specified in 33 (40.2% cases. Limitations: This was a retrospective study and details of occupation and interval between the precursor lesions and development of tumor were not recorded. Immunohistochemistry for human papilloma virus and p53 tumor suppressor protein were not performed as these tests were not available. Conclusion: Cutaneous squamous cell carcinoma is uncommon in Indian patients and a high index of suspicion is necessary when a rapidly enlarging nodule, verrucous fungating plaque

  5. Frequency, predisposing factors and fetomaternal outcome in uterine rupture

    International Nuclear Information System (INIS)

    Malik, H.S.

    2006-01-01

    To determine the frequency and to analyze the predisposing factors, maternal and fetal outcome of uterine rupture. All cases of ruptured uterus, who were either admitted with or who developed this complication in the hospital, were included in the study. Demographic data, details regarding the most probable predisposing factor, type of rupture, the management and maternal and fetal outcome were taken into consideration for analysis.During three years, total number of deliveries was 18668, and there were 103 cases of uterine rupture (0.55%).Out of these, only 13 (12.62%) patients were booked. Most of the patients presented between the ages of 26-30 years (42.71%). Majority of ruptures occurred in para 2-4 (44.66%). Fifty five cases (53.39%) had a previous caesarean section scar. In 68 (66.01%) cases, the tear was located in lower uterine segment. In 93 (90.29%) cases, anterior uterine wall was involved. Rupture was complete in 79 (76.69%)cases. Repair of uterus was done in 79 (76.69%) cases. Hysterectomy was performed in 24 (23.30%) cases. There were 8 (7.76% or 77.66/1000) maternal deaths and 85 (81.73% or 825 / 1000) perinatal deaths.This study confirms high frequency of such serious preventable obstetrical problem which can lead to high fetomaternal mortality. Rupture of caesarean section scar was the most common cause of uterine rupture found in this series. (author)

  6. Incidence and predisposing factors of phlebitis in a surgery department.

    Science.gov (United States)

    Rego Furtado, Luís Carlos do

    This paper reports on a study conducted to determine the incidence of phlebitis related to peripheral cannulae, and its predisposing factors in a general surgery department. Phlebitis is a serious health problem that affects a large proportion of hospitalized patients receiving intravenous therapy. A data collection tool was developed based on the previous literature and was completed between 15 October and 30 November 2010 in a general surgery department. All patients with peripheral cannulae who fulfilled the inclusion criteria, and who agreed to participate in the study where monitored. This was a quantitative study, which used descriptive, inferential, and correlational analysis. A total of 171 patients and 286 peripheral cannulae were monitored. The average incidence of phlebitis was 61.5%, and factors such as diabetes and tobacco consumption were identified as relevant to the development of phlebitis. Other elements identified as predisposing to the development of phlebitis include administration of potassium chloride, the dwell time of the peripheral cannula, and the anatomical location of the cannula. Phlebitis associated with peripheral cannulae is still a current problem requiring knowledgeable staff who can prevent, recognize and act appropriately in a timely manner to minimize its severity.

  7. Patellofemoral instability: Quantitative evaluation of predisposing factors by MRI

    Directory of Open Access Journals (Sweden)

    Noha Mohamed Osman, M.D.

    2016-12-01

    Full Text Available Objective: To determine the contribution of MRI in evaluating patellofemoral instability (PFI and to compare the underlying predisposing factors between the study and control groups. Materials and methods: We enrolled knee MRI scans of 38 patients with lateral patellar dislocation (LPD and 38 control subjects. All MRI scans were examined for LPD and patellofemoral joint (PFJ morphological abnormalities. The lateral trochlear inclination angle, sulcus angle and trochlear depth were the MR measures for trochlear dysplasia (TD, patellar height ratio was used for evaluation of patella alta, the patellar tilt angle, and the tibial tuberosity-trochlear groove (TT-TG distance were also measured. Results: MRI confirmed PFI in 84.2% of study group and detected abnormal PFJ morphological factors in all cases. The prevalences and mean values of all MR parameters showed significant differences (p < 0.001 between the study and control groups. MR parameters for TD had the highest sensitivity of 57.9%, while the TT-TG distance was the most specific 97.4% for PFI. The prevalence of combined PFJ abnormal morphological factors was 36.8% in the study group. Conclusion: MRI was useful in quantitative measuring of the predisposing factors contributing to PFI resulting in significant difference in all MR parameters between the study and control groups.

  8. Predisposal management of radioactive waste. General safety requirements. Pt. 5

    International Nuclear Information System (INIS)

    2009-01-01

    The objective of this Safety Requirements publication is to establish, the requirements that must be satisfied in the predisposal management of radioactive waste. This publication sets out the objectives, criteria and requirements for the protection of human health and the environment that apply to the siting, design, construction, commissioning, operation and shutdown of facilities for the predisposal management of radioactive waste, and the requirements that must be met to ensure the safety of such facilities and activities. This Safety Requirements publication applies to the predisposal management of radioactive waste of all types and covers all the steps in its management from its generation up to its disposal, including its processing (pretreatment, treatment and conditioning), storage and transport. Such waste may arise from the commissioning, operation and decommissioning of nuclear facilities; the use of radionuclides in medicine, industry, agriculture, research and education; the processing of materials that contain naturally occurring radionuclides; and the remediation of contaminated areas. The introduction of the document (Section 1) informs about its objective, scope and structure. The protection of human health and the environment is considered in Section 2 of this publication. Section 3 establishes requirements for the responsibilities associated with the predisposal management of radioactive waste. Requirements for the principal approaches to and the elements of the predisposal management of radioactive waste are established in Section 4. Section 5 establishes requirements for the safe development and operation of predisposal radioactive waste management facilities and safe conduct of activities. The Annex presents a discussion of the consistency of the safety requirements established in this publication with the fundamental safety principles

  9. Predisposed to cooperate

    Directory of Open Access Journals (Sweden)

    Cathryn Costello

    2013-09-01

    Full Text Available Recent research in Toronto and Geneva indicates that asylum seekers and refugees are predisposed to be cooperative with the refugee status determination system and other immigration procedures, and that the design of alternatives to detention can create, foster and support this cooperative predisposition – or can undermine or even demolish it.

  10. POLE mutations in families predisposed to cutaneous melanoma

    DEFF Research Database (Denmark)

    Aoude, Lauren G; Heitzer, Ellen; Johansson, Peter

    2015-01-01

    Germline mutations in the exonuclease domain of POLE have been shown to predispose to colorectal cancers and adenomas. POLE is an enzyme involved in DNA repair and chromosomal DNA replication. In order to assess whether such mutations might also predispose to cutaneous melanoma, we interrogated...... variants in the exonuclease domain of POLE. Although this frequency is not significantly higher than that in unselected Caucasian controls, we observed multiple cancer types in the melanoma families, suggesting that some germline POLE mutations may predispose to a broad spectrum of cancers, including...

  11. Predisposing Factors in Acute-on-Chronic Liver Failure

    DEFF Research Database (Denmark)

    Trebicka, J.

    2016-01-01

    Acute-on-chronic liver failure (ACLF) is a syndrome with high short-term mortality in patients with chronic liver disease. The definition of ACLF has been addressed recently in many publications, and despite regional differences the number and severity of organ failures are decisive for the prese......Acute-on-chronic liver failure (ACLF) is a syndrome with high short-term mortality in patients with chronic liver disease. The definition of ACLF has been addressed recently in many publications, and despite regional differences the number and severity of organ failures are decisive...... hypertension might predispose for the development of ACLF after proper injury and response. © 2016 by Thieme Medical Publishers, Inc....

  12. Cytomegalovirus retinitis after central retinal vein occlusion in a patient on systemic immunosuppression: does venooclusive disease predispose to cytomegalovirus retinitis in patients already at risk?

    Directory of Open Access Journals (Sweden)

    Welling JD

    2012-04-01

    Full Text Available John D Welling, Ahmad B Tarabishy, John ChristoforidisDepartment of Ophthalmology, Havener Eye Institute, Ohio State University, Columbus, OH, USAAbstract: Cytomegalovirus (CMV retinitis remains the most common opportunistic ocular infection in immunocompromised patients. Patients with immunocompromising diseases, such as acquired immunodeficiency syndrome, inherited immunodeficiency states, malignancies, and those on systemic immunosuppressive therapy, are known to be at risk. Recently, it has been suggested that patients undergoing intravitreal injection of immunosuppressive agents may also be predisposed. One previous case report speculated that there may be an additional risk for CMV retinitis in acquired immunodeficiency syndrome patients with venoocclusive disease. This case study presents a case of CMV retinitis following central retinal vein occlusion in a patient on systemic immunosuppressants.Keywords: cytomegalovirus retinitis, central retinal vein occlusion, immunosuppression, solid organ transplant, venous stasis, risk factor

  13. Sexual activity does not predispose to reflux episodes in patients with gastroesophageal reflux disease

    Science.gov (United States)

    Bor, Serhat; Valytova, Elen; Yildirim, Esra; Vardar, Rukiye

    2014-01-01

    Background The role of sexual activity on gastroesophageal reflux disease (GERD) is an under-recognized concern of patients, and one rarely assessed by physicians. Objective The objective of this article is to determine the influence of sexual activity on the intraesophageal acid exposure and acid reflux events in GERD patients. Methods Twenty-one patients with the diagnosis of GERD were prospectively enrolled. Intraesophageal pH monitoring was recorded for 48 hours with a Bravo capsule. All patients were instructed to have sexual intercourse or abstain in a random order two hours after the same refluxogenic dinner within two consecutive nights. Patients were requested to have sex in the standard “missionary position” and women were warned to avoid abdominal compression. The patients completed a diary reporting the time of the sexual intercourse and GERD symptoms. The percentage of reflux time and acid reflux events were compared in two ways: within 30 and 60 minutes prior to and after sexual intercourse on the day of sexual intercourse and in the same time frame of the day without sexual intercourse. Results Fifteen of 21 GERD patients were analyzed. The percentage of reflux time and number of acid reflux events did not show a significant difference within the 30- and 60-minute periods prior to and after sexual intercourse on the day of sexual intercourse and on the day without sexual intercourse, as well. Conclusion Sexual activity does not predispose to increased intraesophageal acid exposure and acid reflux events. Larger studies are needed to confirm our findings in patients who define reflux symptoms during sexual intercourse. PMID:25452843

  14. Subgroups of Paediatric Acute Lymphoblastic Leukaemia Might Differ Significantly in Genetic Predisposition to Asparaginase Hypersensitivity.

    Directory of Open Access Journals (Sweden)

    Nóra Kutszegi

    Full Text Available L-asparaginase (ASP is a key element in the treatment of paediatric acute lymphoblastic leukaemia (ALL. However, hypersensitivity reactions (HSRs to ASP are major challenges in paediatric patients. Our aim was to investigate genetic variants that may influence the risk to Escherichia coli-derived ASP hypersensitivity. Sample and clinical data collection was carried out from 576 paediatric ALL patients who were treated according to protocols from the Berlin-Frankfurt-Münster Study Group. A total of 20 single nucleotide polymorphisms (SNPs in GRIA1 and GALNT10 genes were genotyped. Patients with GRIA1 rs4958351 AA/AG genotype showed significantly reduced risk to ASP hypersensitivity compared to patients with GG genotype in the T-cell ALL subgroup (OR = 0.05 (0.01-0.26; p = 4.70E-04, while no such association was found in pre-B-cell ALL. In the medium risk group two SNPs of GRIA1 (rs2055083 and rs707176 were associated significantly with the occurrence of ASP hypersensitivity (OR = 0.21 (0.09-0.53; p = 8.48E-04 and OR = 3.02 (1.36-6.73; p = 6.76E-03, respectively. Evaluating the genders separately, however, the association of rs707176 with ASP HSRs was confined only to females. Our results suggest that genetic variants of GRIA1 might influence the risk to ASP hypersensitivity, but subgroups of patients can differ significantly in this respect.

  15. Waste predisposal management

    International Nuclear Information System (INIS)

    2005-01-01

    All Member States have to a large or small extent nuclear activities that generate radioactive wastes. Hospitals, research in biomedicine or in agriculture, and some industrial applications, beside other large nuclear activities such as Nuclear Power Plants and Nuclear Research, generate unconditioned liquid or solid radioactive wastes that have to be treated, conditioned and stored prior final disposal. Countries with small nuclear activities require of organizations and infrastructure as to be able to manage, in a safe manner, the wastes that they generate. Predisposal management of radioactive waste is any step carried out to convert raw waste into a stable form suitable for the safe disposal, such as pre-treatment, treatment, storage and relevant transport. Transport of radioactive waste do not differ, in general, from other radioactive material and so are not considered within the scope of this fact sheet (Nevertheless the Agency, within the Nuclear Safety Department, has created a special Unit that might give advise Member States in this area). Predisposal management is comprised of a set of activities whose implementation may take some time. In most of the cases, safety issues and strategic and economical considerations have to be solved prior the main decisions are taken. The International Atomic Energy Agency provides assistance for the management of radioactive waste at national and operating level, in the definition and/or implementation of the projects. The services could include, but are not limited to guidance in the definition of national waste management strategy and its implementation, definition of the most adequate equipment and practices taking into account specific Member State conditions, as well as assisting in the procurement, technical expertise for the evaluation of current status of operating facilities and practical guidance for the implementation of corrective actions, assistance in the definition of waste acceptance criteria for

  16. Predisposing factors of laminitis in cattle.

    Science.gov (United States)

    Vermunt, J J; Greenough, P R

    1994-01-01

    Laminitis is regarded as a major predisposing factor in lameness caused by claw disorders. Despite intensive study, both by experiment and by clinical observation, knowledge of the precise aetiology and pathogenesis of bovine laminitis is still incomplete. It is often hypothesized that changes in the micro-circulation of the corum (dermis) of the bovine claw contribute significantly to the development of laminitis; arteriovenous anastomoses (AVAs) playing a crucial role. Many factors have been implicated as contributing causes of laminitis in cattle; the disease has a multifactorial aetiology. The cause of laminitis should be considered as a combination of predisposing factors leading to vascular (AVAs in particular) reactivity and inhibition of normal horn synthesis. Nutrition, disease, management and behaviour appear to be closely involved in the pathogenesis of bovine laminitis. The major factors predisposing to laminitis in cattle, as reported or suggested in the literature, are reviewed, including systemic disease, nutrition (barley grain, protein, carbohydrate and fibre), management (housing, bedding and exercise), calving, season, age, growth, genetics, conformation and behaviour.

  17. [Glutamate receptors genes polymorphism and the risk of paranoid schizophrenia in Russians and tatars from the Republic of Bashkortostan].

    Science.gov (United States)

    Gareeva, A E; Khusnutdinova, E K

    2014-01-01

    Schizophrenia is a severe mental disorder that affects about 1% of the world population, leading to disability and social exclusion. Glutamatergic neurotransmission is a violation of one of the main hypotheses put forward to explain the neurobiological mechanisms of schizophrenia. Post mortem studies have found changes in the degree of affinity glutamate receptors, their transcription, and altered expression of their subunits in the prefrontal cortex, hippocampus, and thalamus in patients with schizophrenia. As a result of genetic studies of gene family encoding ionotropic AMPA and kainate glutamate receptors in schizophrenia, ambiguous results were received. The association of polymorphic variants of genes GRIA2 and GRIK2 with paranoid schizophrenia and response to therapy with haloperidol in Russian and Tatar of the Republic of Bashkortostan was conducted in the present study. DNA samples of 257 patients with paranoid schizophrenia and of 349 healthy controls of Russian and Tatar ethnic group living in the Republic of Bashkortostan were involved into the present study. In the result of the present study: (1) high risk genetic markers of paranoid schizophrenia (PSZ) were obtained: in Russians-GR4IA2*CCC (OR = 9.60) and in Tatars-GRIK2*ATG (OR = 3.5), GRIK2*TGG (OR = 3.12) (2) The following low risk genetic markers of PSZ were revealed: in Tatars-GRIA2*T/T (rs43025506) of GRIA2 gene (OR = 0.34); in Russians.- GRIA2*CCT (OR = 0.481). (3) Genetic markers of low haloperido! treatment efficacy in respect of negative and positive symptoms GRIK2*T/T (rs2227281) of GRIK2 gene and GRAL42*C/C in Russians, GRIK2*A/A (rs995640) of GRIK2 gene in Tatars. (4) Genetic markers of low haloperidol treatment efficacy in respect of positive symptoms GRL42*C/C in Russians. The results of the present study support the hypothesis of the involvement of glutamate receptor genes in schizophrenia pathway. Considerable inter-ethnic'diversity of genetic risk factors for this disease was

  18. Factors predisposing to consecutive esotropia after surgery to correct intermittent exotropia.

    Science.gov (United States)

    Jang, Jung Hyun; Park, Jung Min; Lee, Soo Jung

    2012-10-01

    To investigate the incidence of and factors predisposing to consecutive esotropia after intermittent exotropia surgery, and to prevent the onset of consecutive esotropia. We retrospectively surveyed 226 patients who had been followed up for more than 1 year after surgery for intermittent exotropia conducted between February 2005 and September 2010. Consecutive esotropia was defined as an esotropia of at least 10 prism diopters (PD) at distance or near at least once in 2 weeks after surgery. Presumed risk factors for consecutive esotropia were analyzed. Gender, age at surgery, average binocular spherical equivalent, anisometropia, high myopia, amblyopia, preoperative angle of deviation, vertical deviation, A-V pattern strabismus, exotropia type, type of surgery, stereopsis, and suppression were investigated to evaluate factors influencing the onset of consecutive esotropia. Consecutive esotropia occurred in 22 patients (9.7 %). Significant correlations with occurrence of the condition were found with high myopia (P = 0.013), amblyopia (P = 0.047), preoperative angle of deviation of 25-40 PD at distance (P = 0.016), deviation at distance - deviation at near > 10 PD (P = 0.041), lateral incomitance (P = 0.007), tenacious proximal convergence fusion type (P = 0.001), unilateral lateral rectus muscle recession and medial rectus muscle resection (P = 0.001). High myopia, amblyopia, and lateral incomitance were predisposing factors for consecutive esotropia. Furthermore, the preoperative angle of deviation at distance, differences between the angle of deviation at near and at distance, the type of intermittent exotropia, and the type of surgery affected the incidence of consecutive esotropia. More attention must be paid to patients with such factors.

  19. An Evaluation of Factors Predisposing Building Elements to Variation in Nigeria

    Directory of Open Access Journals (Sweden)

    Babatunde, S.O.

    2013-01-01

    Full Text Available The construction industry has been consistently criticized for poor performance in attaining clients’ requirements. The study, thus, assessed the factors predisposing building elements to variation with a view to providing cost-design information that enhance construction project delivery, that is, on-time completion of project within budget. The building elements considered in this study include substructure, frame, upper floors, and roof. Data were collected using well-structured questionnaires administered on professionals in consulting firms, contracting firms, and client organizations in Lagos metropolis. Data analysis was done using descriptive and inferential statistics. The results of the analysis revealed nine factors through factor analysis that predispose substructure to variation, seven factors predispose frame, six factors predispose upper floors, and seven factors predispose roofs to variation during construction process in Nigeria.

  20. Tailor-made diagnosis and therapy of breast cancer for familial predisposed women

    International Nuclear Information System (INIS)

    Frankenberg-Schwager, M.

    2003-01-01

    Familial predisposed women heterozygous for an inherited mutation in a tumor suppressor gene (such as BRCA1+/- or BRCA2+/-) are at a higher risk for loss of tumor suppressor gene function than normal women and may develop breast cancer (BRCA-/-). For early detection of breast cancer these women are advised to start mammography screening at an early age and at annual intervals. Mammography X-rays were shown to enhance neoplastic transformation and mutation in human cell lines. Based on the mutation data it is estimated that a single mammogram confers loss of BRCA function (BRCA-/-) in at least several thousand breast epithelial target cells of a predisposed woman. BRCA1 and BRCA2 genes belong to a group of genes required for the error-free repair of DNA double-strand breaks (DSBs) by homologous recombination. This pathway is impaired in BRCA1-/- or BRCA2-/- cells and DSBs are channeled into potentially error-prone pathways such as non-homologous end joining (NHEJ) and single-strand annealing (SSA). BRCA-deficient cells show a mutator phenotype characterized by an increasing genetic instability. This seems to be the mechanistic explanation for the enhanced risk of breast cancer in predisposed women. Consequently, for the recommended early and frequent screening of predisposed women the induction of DSBs by mammography X-rays should be avoided. Instead, a diagnostic tool not associated with radiation, such as NM imaging, is preferable, which also provides a significantly higher accuracy than conventional imaging to detect breast cancer in high-risk women. BRCA-deficient cells are extremely sensitive to DNA-DNA crosslinking agents. Experimental evidence suggests that repair of DNA interstrand crosslinks occurs in the S-phase of the cell cycle and DSBs are formed as repair intermediates. These can be repaired by homologous recombination between sister chromatids in normal but not in BRCA-deficient cells. Consequently, DNA crosslinking agents appear to be the tailor

  1. Predisposing factors for renal scarring in children with urinary tract infection

    Directory of Open Access Journals (Sweden)

    Fatemeh Beiraghdar

    2012-01-01

    Full Text Available This study was undertaken to determine the predisposing factors for renal scarring in children with urinary tract infection. In this prospective cohort study, 176 children with documented urinary tract infection were categorized into four groups: ≤1 year old, 1-2 years old, 2-7 years and 7-14 years old. Ultrasonography and Technetium-99 m-DMSA scan were used to detect the possible abnormalities. Infants under 12 months old presented as the most common group for renal scarring (27 cases, 52.9%, and vesicoureteral reflux (VUR was diagnosed in 29 cases (56.8%. Fifteen (41.67% children between the ages of one and two years had renal scar, and VUR was detected in half of the patients. In the third group, 36.3%, and in fourth group, 41.6% of the patients had renal scar. Also, 38.6% in group three and 50% in the final group had VUR. A co-incidental finding that was observed in this study was the high incidence of pseudohypoaldesteronism (PHA in our patients: in 39.2% of the children in group one, 22.2% in group two and 4% in group three. In group four however, none of the patients had PHA. Risk of scar formation with urinary tract infection (UTI was higher in the younger age group and in those with recurrent UTIs.

  2. Posterior reversible encephalopathy syndrome: do predisposing risk factors make a difference in MRI appearance?

    International Nuclear Information System (INIS)

    Mueller-Mang, Christina; Mang, Thomas; Prayer, Daniela; Pirker, Agnes; Klein, Katharina; Prchla, Christine

    2009-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-neuroradiological entity, characterized by typical neurological deficits, distinctive magnetic resonance imaging (MRI) features, and a usually benign clinical course. Although frequently seen in association with hypertensive conditions, many other predisposing factors, notably cytotoxic and immunosuppressant drugs have been associated with PRES. The aim of this study was to determine differences in the MR appearance of PRES according to various risk factors. Thirty consecutive patients with clinical and MRI findings consistent with PRES were included. We identified 24 patients with hypertension-related conditions, including 14 patients with preeclampsia-eclampsia, and six patients without hypertension, in whom PRES was associated with exposition to neurotoxic substances. Lesion distribution, extent of disease, and number of affected brain regions were compared between patients with PRES with and without hypertension, and patients with PRES with and without preeclampsia-eclampsia, respectively. No statistically significant differences in distribution of lesions and extent of disease were observed between patients with PRES with or without hypertension, and patients with or without preeclampsia-eclampsia, respectively. The number of affected brain regions was significantly higher in patients with preeclampsia-eclampsia (p = 0.046), and the basal ganglia region was more frequently involved in these patients (p = 0.066). Apart from a significant higher number of involved brain regions and a tendency for basal ganglia involvement in patients with PRES associated with preeclampsia-eclampsia, the MRI appearance of patients with PRES does not seem to be influenced by predisposing risk factors. (orig.)

  3. Posterior reversible encephalopathy syndrome: do predisposing risk factors make a difference in MRI appearance?

    Energy Technology Data Exchange (ETDEWEB)

    Mueller-Mang, Christina; Mang, Thomas; Prayer, Daniela [Medical University of Vienna, Department of Radiology, Vienna (Austria); Pirker, Agnes [Medical University of Vienna, Department of Neurology, Vienna (Austria); Klein, Katharina [Medical University of Vienna, Department of Obstetrics and Gynecology, Vienna (Austria); Prchla, Christine [SMZ-Ost Danube Hospital, Department of Pediatrics, Vienna (Austria)

    2009-06-15

    Posterior reversible encephalopathy syndrome (PRES) is a clinico-neuroradiological entity, characterized by typical neurological deficits, distinctive magnetic resonance imaging (MRI) features, and a usually benign clinical course. Although frequently seen in association with hypertensive conditions, many other predisposing factors, notably cytotoxic and immunosuppressant drugs have been associated with PRES. The aim of this study was to determine differences in the MR appearance of PRES according to various risk factors. Thirty consecutive patients with clinical and MRI findings consistent with PRES were included. We identified 24 patients with hypertension-related conditions, including 14 patients with preeclampsia-eclampsia, and six patients without hypertension, in whom PRES was associated with exposition to neurotoxic substances. Lesion distribution, extent of disease, and number of affected brain regions were compared between patients with PRES with and without hypertension, and patients with PRES with and without preeclampsia-eclampsia, respectively. No statistically significant differences in distribution of lesions and extent of disease were observed between patients with PRES with or without hypertension, and patients with or without preeclampsia-eclampsia, respectively. The number of affected brain regions was significantly higher in patients with preeclampsia-eclampsia (p = 0.046), and the basal ganglia region was more frequently involved in these patients (p = 0.066). Apart from a significant higher number of involved brain regions and a tendency for basal ganglia involvement in patients with PRES associated with preeclampsia-eclampsia, the MRI appearance of patients with PRES does not seem to be influenced by predisposing risk factors. (orig.)

  4. Premorbid personality traits in Alzheimer's disease: do they predispose to noncognitive behavioral symptoms?

    Science.gov (United States)

    Meins, W; Frey, A; Thiesemann, R

    1998-12-01

    The purpose of this study was to examine whether premorbid personality traits predispose to noncognitive symptoms in Alzheimer's disease (AD). The Munich Personality Test was used to evaluate caregivers' perception of personality prior to symptom onset in 56 outpatients with probable AD. Caregivers also completed the "mood" and "disturbed behavior" scales of the Nurses' Observation Scale for Geriatric Patients. A neuropsychiatrist rated depressive symptoms on the Cornell Scale for Depression and the occurrence of personality change in four domains according to ICD-10. Under statistical control of confounding variables, results showed a moderate association between (high) premorbid neuroticism, subsequent troublesome behavior, and personality change, on the one hand, and (low) frustration tolerance and depression, on the other. Premorbid personality traits may indeed predispose to subsequent noncognitive symptoms in AD.

  5. Diabetic Ketoacidosis in a Patient with Type 2 Diabetes After Initiation of Sodium-Glucose Cotransporter 2 Inhibitor Treatment

    DEFF Research Database (Denmark)

    Storgaard, Heidi; Bagger, Jonatan I; Knop, Filip K

    2016-01-01

    Sodium-glucose cotransporter 2 inhibitors (SGLT2i) were recently introduced for the treatment of type 2 diabetes (T2D). SGLT2i lower plasma glucose by inhibiting the renal reuptake of glucose leading to glucosuria. Generally, these drugs are considered safe to use. However, recently, SGLT2i have...... been suggested to predispose to ketoacidosis. Here, we present a case of diabetic ketoacidosis (DKA) developed in an obese, poorly controlled male patient with T2D treated with the SGLT2i dapagliflozin. He was admitted with DKA 5 days after the initiation of treatment with the SGLT2i dapagliflozin...... 72 hr with insulin as the only glucose-lowering therapy. After 1 month, dapagliflozin was reintroduced as add-on to insulin with no recurrent signs of ketoacidosis. During acute illness or other conditions with increased insulin demands in diabetes, SGLT2i may predispose to the formation of ketone...

  6. A case of native valve endocarditis caused by Burkholderia cepacia without predisposing factors

    Directory of Open Access Journals (Sweden)

    Han Seong

    2011-05-01

    Full Text Available Abstract Background Infective endocarditis is rarely caused by Burkholderia cepacia. This infection is known to occur particularly in immunocompromised hosts, intravenous heroin users, and in patients with prosthetic valve replacement. Most patients with Burkholderia cepacia endocarditis usually need surgical treatment in addition to antimicrobial treatment. Case Presentation Here, we report the case of a patient who developed Burkholderia cepacia-induced native valve endocarditis with consequent cerebral involvement without any predisposing factors; she was successfully treated by antimicrobial agents only. Conclusion In this report, we also present literature review of relevant cases.

  7. Primary Otomycosis in the Indian Subcontinent: Predisposing Factors, Microbiology, and Classification

    Directory of Open Access Journals (Sweden)

    Sampath Chandra Prasad

    2014-01-01

    Full Text Available Objective. To define otomycosis and determine the predisposing factors and microbiology in primary otomycosis. Study Design. Prospective study of two years and review of the literature. Setting. Academic Department of Otolaryngology in a coastal city in India. Patients. 150 immunocompetent individuals of whom 100 consecutive patients with a clinical diagnosis of otomycosis are considered as the study group and 50 consecutive patients with no otomycosis are considered as the control group. Results and Observations. Instillation of coconut oil (42%, use of topical antibiotic eardrops (20%, and compulsive cleaning of external ear with hard objects (32% appeared to be the main predisposing factors in otomycosis. Aspergilli were the most common isolates (80% followed by Penicillium (8%, Candida albicans (4%, Rhizopus (1%, and Chrysosporium (1%, the last being reported for the first time in otomycosis. Among aspergilli, A. niger complex (38% was the most common followed by A. fumigatus complex (27% and A. flavus complex (15%. Bacterial isolates associated with fungi in otomycosis were S. aureus, P. aeruginosa, and Proteus spp. In 42% of healthy external ears fungi were isolated. Conclusion. Aspergillus spp. were the most common fungi isolated, followed by Penicillium. Otomycotic ears are often associated with bacterial isolates when compared to normal ears. Fungi are also present in a significant number of healthy external auditory canals and their profiles match those in cases of otomycosis. The use of terms “primary” and “secondary” otomycosis is important to standardize reporting.

  8. Study of Pre-disposing Factors of Acute Exacerbation of Chronic Obstructive Pulmonary Disease and Antibiotic Prescribing Pattern with Reference to Antibiotic Sensitivity Test.

    Science.gov (United States)

    Shrestha, R; Shrestha, B; Shakya Shrestha, S; Pant, A; Prajapati, B; Karmacharya, B M

    2015-01-01

    Background Chronic Obstructive Pulmonary Disease (COPD) affects about 329 million people worldwide, which is nearly 5% of the entire global population. In the context of Nepal, COPD accounts for 43% of the non-communicable disease burden and 2.56% of hospitalizations. Various pre-disposing factors like bacterial, viral, fungal, smoking, occupational exposures and genetic factors have been proposed to precipitate COPD and its exacerbation though, the definitive pre-disposing factors and factors related to acute exacerbation have not been determined in the context of Nepal. Objective To find out the pre-disposing factors and the related causative agents for COPD. Method A cross sectional study was conducted in a tertiary care hospital. Patients of all age group who were diagnosed as COPD and admitted in the hospital were included in this study. Patients were interviewed using structured questionnaire. The sociodemographic data including personal and medical history were recorded from those participants. In addition, sputum from those patients was sent for culture to investigate the possible responsible pathogens as well as its antibiotic sensitivity pattern. Result A total of 150 patients having Acute Exacerbation of Chronic Obstructive Pulmonary Disease (AECOPD) who have admitted from either emergency or out-patient department of the hospital were included in this study. Among the total number of patients, more than half of them were female (n=82). In addition, analysis of occupations shows that most of them were either farmer (36.0%) or housewife (30.7%). In total studied patients (n=150), most of them were using traditional firewood (83%) for cooking purpose and majority of patients (91%) were smokers. Most of the sputum samples show growth of gram-positive cocci (26.7%) and gram negative bacilli (27.5%). Considering the overall sensitivity pattern, the higher sensitivity was recorded for Co-trimoxazole and Ciprofloxacin while higher rate of resistance was noted

  9. Technical Note: Assessing predictive capacity and conditional independence of landslide predisposing factors for shallow landslide susceptibility models

    Directory of Open Access Journals (Sweden)

    S. Pereira

    2012-04-01

    Full Text Available The aim of this study is to identify the landslide predisposing factors' combination using a bivariate statistical model that best predicts landslide susceptibility. The best model is one that has simultaneously good performance in terms of suitability and predictive power and has been developed using variables that are conditionally independent. The study area is the Santa Marta de Penaguião council (70 km2 located in the Northern Portugal.

    In order to identify the best combination of landslide predisposing factors, all possible combinations using up to seven predisposing factors were performed, which resulted in 120 predictions that were assessed with a landside inventory containing 767 shallow translational slides. The best landslide susceptibility model was selected according to the model degree of fitness and on the basis of a conditional independence criterion. The best model was developed with only three landslide predisposing factors (slope angle, inverse wetness index, and land use and was compared with a model developed using all seven landslide predisposing factors.

    Results showed that it is possible to produce a reliable landslide susceptibility model using fewer landslide predisposing factors, which contributes towards higher conditional independence.

  10. Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

    Science.gov (United States)

    Geisheker, Madeleine R.; Heymann, Gabriel; Wang, Tianyun; Coe, Bradley P.; Turner, Tychele N.; Stessman, Holly A.F.; Hoekzema, Kendra; Kvarnung, Malin; Shaw, Marie; Friend, Kathryn; Liebelt, Jan; Barnett, Christopher; Thompson, Elizabeth M.; Haan, Eric; Guo, Hui; Anderlid, Britt-Marie; Nordgren, Ann; Lindstrand, Anna; Vandeweyer, Geert; Alberti, Antonino; Avola, Emanuela; Vinci, Mirella; Giusto, Stefania; Pramparo, Tiziano; Pierce, Karen; Nalabolu, Srinivasa; Michaelson, Jacob J.; Sedlacek, Zdenek; Santen, Gijs W.E.; Peeters, Hilde; Hakonarson, Hakon; Courchesne, Eric; Romano, Corrado; Kooy, R. Frank; Bernier, Raphael A.; Nordenskjöld, Magnus; Gecz, Jozef; Xia, Kun; Zweifel, Larry S.; Eichler, Evan E.

    2017-01-01

    Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted sequencing of 20 sites in 17,689 NDD patients identified 21 new patients with identical missense mutations. One recurrent site (p.Ala636Thr) occurs in a glutamate receptor subunit, GRIA1. This same amino acid substitution in the homologous but distinct mouse glutamate receptor subunit Grid2 is associated with Lurcher ataxia. Phenotypic follow-up in five individuals with GRIA1 mutations shows evidence of specific learning disabilities and autism. Overall, we find significant clustering of de novo mutations in 200 genes, highlighting specific functional domains and synaptic candidate genes important in NDD pathology. PMID:28628100

  11. Chromosomal radiosensitivity in breast cancer patients and BRCA1 and 2 mutation carriers

    International Nuclear Information System (INIS)

    Vral, Anne

    2004-01-01

    Enhanced chromosomal radiosensitivity is observed in significant proportions of cancer patients. In breast cancer patients, this elevated sensitivity is confirmed in several independent studies with the G2 assay as well as with the GO micronucleus (MN) assay for peripheral blood lymphocytes (PBL). Enhanced chromosomal radiosensitivity is a common feature of sporadic breast cancer patients as well as breast cancer patients with a family history of the disease. Segregation analysis showed Mendelian heritability of chromosomal radiosensitivity. As mutations in the highly penetrant breast cancer predisposing genes, BRCA1 and 2, are only present in about 3-5 % of familial breast cancer patients, they cannot solely account for the high proportion of radiosensitive cases found among all breast cancer patients. A review on chromosomal radiosensitivity in BRCA1 and 2 mutation carriers shows that breast cancer patients with a BRCAl or 2 mutation are on the average more radiosensitive than healthy individuals, but not different from breast cancer patients without a BRCA mutation. The radiation response of healthy BRCA1/2 mutation carriers, on the contrary, is not significantly different from controls. Most studies performed on wild type and BRCA +/- EBV lymphoblastoid cell lines also could not demonstrate any differences in MN response between both groups. These findings suggest that mutations in BRCA 1 and 2 are not playing a major role in chromosomal radiosensitivity as measured by G2 and MN assay. The enhanced sensitivity observed in a substantial proportion of breast cancer patients, irrespective of a BRCA1/2 mutation or not, suggests that this feature may be related to the presence of other mutations in low penetrance breast cancer predisposing genes, which may be involved in the process of DNA damage. (author)

  12. OP-11 DO TRAUMATIC LIFE EVENTS PREDISPOSE CHILDREN TO DEVELOP CONSTIPATION?

    NARCIS (Netherlands)

    Rrajindrajith, S.; Devanarayana, N. M.; Rajapakshe, N. N.; Benninga, M. A.

    2015-01-01

    The aetiology of functional constipation (FC) in children is not been fully understood.Exposure to physical, emotional and sexual abuse are known to predispose children to develop FC. No paediatric study has evaluated traumatic life events other than abuse as a potential predisposing factor for FC

  13. Mandibular molar crown-topography, a biological predisposing ...

    African Journals Online (AJOL)

    Mandibular molar crown-topography, a biological predisposing factor to development of caries – a post-mortem analysis of 2500 extracted lower permanent molars at the dental centre, University of Benin teaching hospital.

  14. Predisposal Management of Low and Intermediate Level Radioactive Waste. Safety Guide

    International Nuclear Information System (INIS)

    2009-01-01

    The objective of this Safety Guide is to provide regulatory bodies and the operators that generate and manage radioactive waste with recommendations on how to meet the principles and requirements established for the predisposal management of low and intermediate level waste. Contents: 1. Introduction; 2. Protection of human health and the environment; 3. Roles and responsibilities; 4. General safety considerations; 5. Safety features for the predisposal management of LILW; 6. Record keeping and reporting; 7. Safety assessment; 8. Quality assurance; Annex I: Nature and sources of LILW from nuclear facilities; Annex II: Development of specifications for waste packages; Annex III: Site conditions, processes and events for consideration in a safety assessment (external natural phenomena); Annex IV: Site conditions, processes and events for consideration in a safety assessment (external human induced phenomena); Annex V: Postulated initiating events for consideration in a safety assessment (internal phenomena).

  15. PRESENÇA DE LEVEDURAS DO GÊNERO CANDIDA NA SALIVA DE PACIENTES COM DIFERENTES FATORES PREDISPONENTES E DE INDIVÍDUOS CONTROLE PRESENCE OF CANDIDA GENUS YEASTS IN THE SALIVA OF PATIENTS WITH DIFFERENT PREDISPOSING FACTORS AND OF CONTROL INDIVIDUALS

    Directory of Open Access Journals (Sweden)

    Antonio Olavo Cardoso JORGE

    1997-10-01

    Full Text Available Os microrganismos do gênero Candida são, em geral, comensais da cavidade bucal, mas, em determinados indivíduos e em situações específicas, podem transformar-se na forma parasitária, produzindo candidoses bucais. O objetivo deste trabalho foi analisar a presença das espécies do gênero Candida na saliva de indivíduos controle, comparando com pacientes que apresentavam diferentes fatores predisponentes. Foram avaliados 493 pacientes, divididos em 7 grupos: prótese total, prótese parcial removível, periodontite crônica de adulto, respiração bucal, aparelho ortodôntico fixo, aparelho ortodôntico removível e aparelho extrabucal. O grupo controle consistiu de 570 indivíduos que não apresentavam nenhum desses fatores, divididos em 2 grupos: infantil e adulto. Foram realizados o isolamento e a identificação das espécies do gênero Candida. Os resultados mostraram maior porcentagem de pacientes positivos para Candida nos grupos com fatores predisponentes em relação aos controles. Houve predominância de isolamento de C. albicans em todos os grupos, porém, os pacientes com fatores predisponentes apresentaram diversidade maior de espéciesCandida genus microorganisms are common to the normal oral flora, but in certain individuals and in specific situations they can produce oral candidosis. The aim of this study was to analyze the presence of Candida species in the saliva of control individuals and compare the results with those from patients with different predisposing factors. Four-hundred and ninety-three patients were divided in 7 groups: full denture wearers, removable partial denture wearers, patients with adult chronic periodontitis, mouthbreathers, fixed orthodontic appliance wearers, removable orthodontic appliance wearers, or facebow wearers. The control group consisted of 570 individuals who did not present any of these factors, divided in 2 groups: child and adult. Isolation and identification of Candida species were

  16. Predisposing factors to severe external root resorption associated to orthodontic treatment.

    Science.gov (United States)

    Picanço, Gracemia Vasconcelos; de Freitas, Karina Maria Salvatore; Cançado, Rodrigo Hermont; Valarelli, Fabricio Pinelli; Picanço, Paulo Roberto Barroso; Feijão, Camila Pontes

    2013-01-01

    The aim of this study was to evaluate predisposing factors among patients who developed moderate or severe external root resorption (Malmgren's grades 3 and 4), on the maxillary incisors, during fixed orthodontic treatment in the permanent dentition. Ninety-nine patients who underwent orthodontic treatment with fixed edgewise appliances were selected. Patients were divided into two groups: G1 - 50 patients with no root resorption or presenting only apical irregularities (Malmgren's grades 0 and 1) at the end of the treatment, with mean initial age of 16.79 years and mean treatment time of 3.21 years; G2 - 49 patients presenting moderate or severe root resorption (Malmgren's grades 3 and 4) at the end of treatment on the maxillary incisors, with mean initial age of 19.92 years and mean treatment time of 3.98 years. Periapical radiographs and lateral cephalograms were evaluated. Factors that could influence the occurrence of severe root resorption were also recorded. Statistical analysis included chi-square tests, Fisher's exact test and independent t tests. The results demonstrated significant difference between the groups for the variables: Extractions, initial degree of root resorption, root length and crown/root ratio at the beginning, and cortical thickness of the alveolar bone. It can be concluded that: Presence of root resorption before the beginning of treatment, extractions, reduced root length, decreased crown/root ratio and thin alveolar bone represent risk factors for severe root resorption in maxillary incisors during orthodontic treatment.

  17. The prevalence of predisposing deformity in osteoarthritic hip joints

    DEFF Research Database (Denmark)

    Klit, Jakob; Gosvig, Kasper; Jacobsen, Steffen

    2011-01-01

    relationship in both sexes with the clinical presentation. The study cohort which fulfilled these inclusion criteria consisted of 322 females (149 right hips and 173 left hips) and 162 males (77 right hips and 85 left hips) with osteoarthritis. We found an overall prevalence of predisposing hip deformities...... in females of 62.4% and in males of 78.9%. Minor and major deformities showed the same prevalence. Both sexes had a comparable prevalence of minor and major hip joint deformity, except for pistol grip deformity, which was more prevalent in men. We concluded that 'idiopathic osteoarthritis' is uncommon......, and that even minor predisposing deformities are associated with hip osteoarthritis....

  18. Choroidal neovascularisation triggered multiple evanescent white dot syndrome (MEWDS) in predisposed eyes.

    Science.gov (United States)

    Mathis, Thibaud; Delaunay, Benoit; Cahuzac, Armelle; Vasseur, Vivien; Mauget-Faÿsse, Martine; Kodjikian, Laurent

    2017-09-28

    Multiple evanescent white dot syndrome (MEWDS) is an inflammatory disease that can be associated with choroidalneovascularisation (CNV). However, few studies in the literature have described the occurrence of MEWDS in association with CNV. This paper discusses whether CNV can trigger MEWDS in a predisposed eye. A retrospective multicentric case series of six eyes in six patients with acute onset of MEWDS and evidence of previous CNV was conducted between January 2015 and January 2017. All patients underwent ophthalmic examination including multimodal imaging at baseline and during follow-up. The mean age was 32.2±12.2 years. The majority of patients were women (5/1). In each case, MEWDS was diagnosed during a recurrence or occurrence of CNV secondary to choriocapillaritis, central serous chorioretinopathy or atrophic scar, presumably due to congenital toxoplasmosis. All patients were treated with intravitreal injections of antivascular endothelial growth factor (anti-VEGF) with good anatomical and functional responses (mean gain of 0.3±0.31 logMAR). The mean duration of follow-up was 13.5±10.65 months. This study highlights a sequence in the development of MEWDS, following the occurrence or recurrence of CNV. CNV may trigger MEWDS, possibly due to the proinflammatory environment created by the retinal tissue surrounding the CNV. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  19. Influence of early life status epilepticus on the developmental expression profile of the GluA2 subunit of AMPA receptors

    Czech Academy of Sciences Publication Activity Database

    Szczurowska, Ewa; Ergang, Peter; Kubová, Hana; Druga, Rastislav; Salaj, M.; Mareš, Pavel

    2016-01-01

    Roč. 283, Part A (2016), s. 97-109 ISSN 0014-4886 R&D Projects: GA ČR(CZ) GA15-16605S; GA ČR(CZ) GBP304/12/G069 Institutional support: RVO:67985823 Keywords : development * pilocarpine * status epilepticus * LiCl * AMPA * GluA2 * subunit * expression * GRIA2A Subject RIV: FH - Neurology Impact factor: 4.706, year: 2016

  20. Nutritional status, lifestyle and knowledge of predisposing factors on ...

    African Journals Online (AJOL)

    Nutritional status, lifestyle and knowledge of predisposing factors on ... influenced their lifestyle, dietary habit and subsequently their nutritional/health status. Keywords: Hyperlipidemia, nutritional status, diet, diabetes, cardiovascular diseases ...

  1. Predisposing, precipitating and perpetuating factors and the common sense model of illness

    DEFF Research Database (Denmark)

    Carstensen, Tina; Kasch, Helge; Frostholm, Lisbeth

    2017-01-01

    Background: Various predisposing, precipitating and perpetuating factors are found to be associated with development of persistent symptoms and disability after whiplash trauma. According to the commonsense model of illness, people use commonsense knowledge to develop individual illness models when...... facing health threat. Question: Can we use the common-sense model as a unifying model to encompass the impact of predisposing, precipitating, and perpetuating factors in the development of chronic whiplash? Looking into specific factors and their interaction: Do illness perceptions mediate the effect...... of precollision sick leave on chronic whiplash? Methods: This presentation will integrate findings from research on predisposing, precipitating, perpetuating factors that are associated with poor outcome after whiplash trauma and propose the common-sense model as a unifying model. Data from a study including 740...

  2. Developing a Pre-disposal radioactive waste management framework for malawi

    International Nuclear Information System (INIS)

    Guasi, Ephron

    2016-04-01

    In Malawi, uranium mining and other potential radioactive waste generating activities are on the increase. An elaborate national policy document and strategy on radioactive waste management is however not available. A national policy is important because it provides overall direction and the basis for decision making with respect to the management of radioactive waste in a country. Thus the absence of the national policy creates a gap in the country’s regulatory framework for ensuring safety and protection of people and the environment from sources of ionizing radiation. The present study was undertaken to minimize the impact of this regulatory framework gap by proposing a predisposal radioactive waste management framework for Malawi. This was achieved by analyzing the current and anticipated applications of radioactive materials and activities. The international and national regulatory requirements related to predisposal radioactive waste management were also reviewed and analyzed. The study found out that a predisposal radioactive waste management frame work comprised of onsite management of wastes from hospitals and uranium mining and export of high activity disused sources to supplier or management facilities in nearby countries would be the best for Malawi for now and the next ten years. (au)

  3. Gastrointestinal helminths and their predisposing factors in different ...

    African Journals Online (AJOL)

    ing to management system and associated predisposing factors. Epidemiol- ... Factors for the occurrence of GIT helminths were investigated using logistic regression models; where ... try egg and meat demand in the country; whereas, modern production and management ..... The same trend in prevalence was observed in ...

  4. Loss of PKBβ/Akt2 predisposes mice to ovarian cyst formation and increases the severity of polycystic ovary formation in vivo

    Directory of Open Access Journals (Sweden)

    David F. Restuccia

    2012-05-01

    Ovarian cysts affect women of all ages and decrease fertility. In particular, polycystic ovarian syndrome (PCOS, in which multiple follicular cysts develop, affects 5–10% of women of reproductive age and can result in infertility. Current non-invasive treatments for PCOS can resolve cysts and restore fertility, but unresponsive patients must undergo severe ovarian wedge resection and resort to in vitro fertilization. PCOS is related to the deregulation of leutinizing hormone (LH signaling at various levels of the hypothalamic-pituitary-ovarian axis and resultant hyperproduction of androgens. Because insulin resistance and compensatory hyperinsulinemia are observed in 50–70% of individuals with PCOS, deregulated insulin signaling in the ovary is considered an important factor in the disease. Here we report that aged mice specifically lacking the PKBβ (also known as Akt2 isoform that is crucial for insulin signaling develop increased testosterone levels and ovarian cysts, both of which are also observed in insulin-resistant PCOS patients. Young PKBβ knockout mice were used to model PCOS by treatment with LH and exhibited a cyst area that was threefold greater than in controls, but without hyperinsulinemia. Thus, loss of PKBβ might predispose mice to ovarian cysts independently of hyperactive insulin signaling. Targeted therapeutic augmentation of specific PKBβ signaling could therefore provide a new avenue for the treatment and management of ovarian cysts.

  5. Case Report: Cervical Klippel-Feil syndrome predisposing an ...

    African Journals Online (AJOL)

    Case Report: Cervical Klippel-Feil syndrome predisposing an elderly African man to central cord myelopathy following minor trauma. ... unique presentation of this case of Klippel-Feil syndrome further supports the impression that following fusion (congenital or acquired) of one segment of the spinal column, hypermobility of ...

  6. Lung infarction following pulmonary embolism. A comparative study on clinical conditions and CT findings to identify predisposing factors

    Energy Technology Data Exchange (ETDEWEB)

    Kirchner, J.; Obermann, A.; Stueckradt, S.; Tueshaus, C. [General Hospital Hagen (Germany). Radiology; Goltz, J.; Kickuth, R. [University Hospital Wuerzburg (Germany). Radiology; Liermann, D. [University Hospital Marienhospital Herne (Germany). Radiology

    2015-06-15

    The aim of this study was to identify factors predisposing to lung infarction in patients with pulmonary embolism (PE). We performed a retrospective analysis on 154 patients with the final diagnosis of PE being examined between January 2009 and December 2012 by means of a Toshiba Aquilion 64 CT scanner. The severity of clinical symptoms was defined by means of a clinical index with 4 classes. The pulmonary clot load was quantified using a modified severity index of PE as proposed by Miller. We correlated several potential predictors of pulmonary infarction such as demographic data, pulmonary clot burden, distance of total vascular obstruction and pleura, the presence of cardiac congestion, signs of chronic bronchitis or emphysema with the occurrence of pulmonary infarction. Computed tomography revealed 78 areas of pulmonary infarction in 45/154 (29.2%) patients. The presence of infarction was significantly higher in the right lung than in the left lung (p < 0.001). We found no correlation between pulmonary infarction and the presence of accompanying malignant diseases (r=-0.069), signs of chronic bronchitis (r=-0.109), cardiac congestion (r=-0.076), the quantified clot burden score (r=0.176), and the severity of symptoms (r=-0.024). Only a very weak negative correlation between the presence of infarction and age (r=-0.199) was seen. However, we could demonstrate a moderate negative correlation between the distance of total vascular occlusion and the occurrence of infarction (r=-0.504). Neither cardiac congestion nor the degree of pulmonary vascular obstruction are main factors predisposing to pulmonary infarction in patients with PE. It seems that a peripheral total vascular obstruction more often results in infarction than even massive central clot burden.

  7. 12 Layout ppp2

    African Journals Online (AJOL)

    Nubidga

    predisposes Cameroon female type 2 diabetes mellitus patients to essential hypertension. Research Article ..... related to age and sex, diabetics of different ages were grouped into ... older than normotensive T2DM patients. (p<0.05). This is ...

  8. Predisposal management of low and intermediate level radioactive waste. Safety guide

    International Nuclear Information System (INIS)

    2003-01-01

    Radioactive waste is generated in the generation of electricity in nuclear power reactors and in the use of radioactive material in industry, research and medicine. The importance of the safe management of radioactive waste for the protection of human health and the environment has long been recognized. The principles and requirements that govern the safety of the management of radioactive waste are presented in 'The Principles of Radioactive Waste Management', 'Legal and Governmental Infrastructure for Nuclear, Radiation, Radioactive Waste and Transport Safety' and 'Predisposal Management of Radioactive Waste, Including Decommissioning'. The objective of this Safety Guide is to provide regulatory bodies and the operators that generate and manage radioactive waste with recommendations on how to meet the principles and requirements established in Refs for the predisposal management of LLW. This Safety Guide deals with the safety issues associated with the predisposal management of LLW from nuclear fuel cycle facilities, large research and development installations and radioisotope production facilities. This includes all steps and activities in the management of waste, from its initial generation to its final acceptance at a waste disposal facility or the removal of regulatory control. The predisposal management of radioactive waste includes decommissioning. The term 'decommissioning' encompasses both the process of decommissioning a facility and the management of the waste that results (prior to its disposal). Recommendations on the process of decommissioning are provided in Refs. Recommendations on the management of the waste resulting from decommissioning are included in this Safety Guide. Although the mining and milling of uranium and thorium ores is part of the nuclear fuel cycle, the management of the operational waste (e.g. waste rock, tailings and effluent treatment waste) from these activities is not within the scope of this Safety Guide. The LLW that is

  9. Predisposing and Precipitating Risk Factors for Suicide Ideations and Suicide Attempts In Young and Adolescent Girls

    Directory of Open Access Journals (Sweden)

    K.S KHUSHABI

    2006-11-01

    Full Text Available Background:To investigate the predisposing and precipitating risk factors for suicide ideations and suicide attempts in young and adolescent females,we tried to introduce a holistic model of suicidal behavior in young and adolescent girls. Methods: This study is based on the survey studies and was cross-sectional. Considering high rates of suicide attempts in provinces of Iran,three provinces (Kermanshah, Hamedan,Ilam which had the highest rates of completed suicide were selected. Then among female high school students (aged 14 to 21 years, in two stages a representative sample was selected by a multi-clusteral and simple randomized sampling methods. The research data were gathered by administering (1 The inventory of predisposing and precipitating factors of suicide, demographic and family characteristics (based on the literature review (2 Symptom Check List (SCL 90-R (3Suicidality Subscale of the Depressive Symptom Index (DSI-SS (4 Center for Epidemiological Studies (CED- SSI (5 Beck Hopelessness Scale (BHS and (6 Child Abuse Self Report Scale (CASRS.Then,subjects were characterized by dividing them in to two categories: at risk,and low risk. The scores of 2 categories were analyzed and discussed. Results: Relationships were found between suicide ideations and psychological problems and disorders (especially depression.Also,the students who reported suicide ideation and suicide attempt had a history of being abused. Based on the results,predisposing and precipitating risk factors and also some protective factors of suicide ideations and suicide attempts were found and a theoretical model was presented.Conclusion: Some predisposing,precipitating and protective factors can predict suicide ideation and suicide attempts significantly.

  10. Evaluation of some predisposing factors to malaria related anaemia ...

    African Journals Online (AJOL)

    Evaluation of some predisposing factors to malaria related anaemia among children in Benin City, Nigeria. ... Tropical Journal of Health Sciences ... It was carried out at the University of Benin Teaching Hospital, Benin City between June and ...

  11. Drought predisposes piñon-juniper woodlands to insect attacks and mortality.

    Science.gov (United States)

    Gaylord, Monica L; Kolb, Thomas E; Pockman, William T; Plaut, Jennifer A; Yepez, Enrico A; Macalady, Alison K; Pangle, Robert E; McDowell, Nate G

    2013-04-01

    To test the hypothesis that drought predisposes trees to insect attacks, we quantified the effects of water availability on insect attacks, tree resistance mechanisms, and mortality of mature piñon pine (Pinus edulis) and one-seed juniper (Juniperus monosperma) using an experimental drought study in New Mexico, USA. The study had four replicated treatments (40 × 40 m plot/replicate): removal of 45% of ambient annual precipitation (H2 O-); irrigation to produce 125% of ambient annual precipitation (H2 O+); a drought control (C) to quantify the impact of the drought infrastructure; and ambient precipitation (A). Piñon began dying 1 yr after drought initiation, with higher mortality in the H2 O- treatment relative to other treatments. Beetles (bark/twig) were present in 92% of dead trees. Resin duct density and area were more strongly affected by treatments and more strongly associated with piñon mortality than direct measurements of resin flow. For juniper, treatments had no effect on insect resistance or attacks, but needle browning was highest in the H2 O- treatment. Our results provide strong evidence that ≥ 1 yr of severe drought predisposes piñon to insect attacks and increases mortality, whereas 3 yr of the same drought causes partial canopy loss in juniper. © 2013 The Authors. New Phytologist © 2013 New Phytologist Trust.

  12. A parametric model for analyzing anticipation in genetically predisposed families

    DEFF Research Database (Denmark)

    Larsen, Klaus; Petersen, Janne; Bernstein, Inge

    2009-01-01

    and are sensitive to right truncation of the data. We propose a normal random effects model that allows for right-censored observations and includes covariates, and draw statistical inference based on the likelihood function. We applied the model to the hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch...... syndrome family cohort from the national Danish HNPCC register. Age-at-onset was analyzed in 824 individuals from 2-4 generations in 125 families with proved disease-predisposing mutations. A significant effect from anticipation was identified with a mean of 3 years earlier age-at-onset per generation...

  13. Massive pulmonary embolism: the predisposing and complicating factors, its current diagnostic approaches and critical importance of early diagnostic physical exam

    Directory of Open Access Journals (Sweden)

    Filip A. Konecny

    2006-12-01

    Full Text Available Massive pulmonary embolism (MPE often leads to circulation collapse, a form of shock. The process is set off by thrombus or multiple thrombi dislodgement followed by a rapid perfusion insufficiency of pulmonary arterial system. Patients experience severe hypotension with diastolic and systolic failure with an acute tricuspid regurgitation. On many occasions, release of an obstruction is unattainable and death is occurring frequently within one hour of presentation. A key reported source of MPE is its occurrence as a complication of deep vein thrombosis (DVT. While long-term immobilization and surgery are both directly associated with MPE, others such as previous DVT, malignancy, infectious lung and heart diseases, family thrombophilia, lower limb paralysis and pregnancy have to be considered as risk factors mainly due to its silent nature. Predisposing and complicating risks should be addressed by an early diagnostic physical exam. The clinician might offer a wide variety of diagnostic approaches, combining techniques into algorithms to better deal with the embolism severity. Multiple patient life-style changes and decisions to adhere to the proposed plan should be built up on patient-physician team effort. KEY WORDS: Massive pulmonary embolism, predisposing factors, current diagnostic approaches.

  14. What aspects of autism predispose to talent?

    Science.gov (United States)

    Happé, Francesca; Vital, Pedro

    2009-05-27

    In this paper, we explore the question, why are striking special skills so much more common in autism spectrum conditions (ASC) than in other groups? Current cognitive accounts of ASC are briefly reviewed in relation to special skills. Difficulties in 'theory of mind' may contribute to originality in ASC, since individuals who do not automatically 'read other minds' may be better able to think outside prevailing fashions and popular theories. However, originality alone does not confer talent. Executive dysfunction has been suggested as the 'releasing' mechanism for special skills in ASC, but other groups with executive difficulties do not show raised incidence of talents. Detail-focused processing bias ('weak coherence', 'enhanced perceptual functioning') appears to be the most promising predisposing characteristic, or 'starting engine', for talent development. In support of this notion, we summarize data from a population-based twin study in which parents reported on their 8-year-olds' talents and their ASC-like traits. Across the whole sample, ASC-like traits, and specifically 'restricted and repetitive behaviours and interests' related to detail focus, were more pronounced in children reported to have talents outstripping older children. We suggest that detail-focused cognitive style predisposes to talent in savant domains in, and beyond, autism spectrum disorders.

  15. [Predisposing factors, clinical picture and mortality in volvulus of the small intestine].

    Science.gov (United States)

    Díaz Plasencia, J; Huaynalaya, E; Rodríguez, F; Rebaza, H

    1992-01-01

    This retrospective study evaluated predisposing factors, clinical picture and the methods of treatment related to morbidity and mortality of 19 small bowel volvulus (SBV) who underwent operation at Belen Hospital (Trujillo-Peru) during the last 26 years (1966-1992). The SBV was 1.6% of all cases of intestinal obstruction in this period and 10.8% of all intestinal volvulus. The median age was of 43 +/- 20.5 years (range, 6 to 78 years) and the majority of them were between 41 and 60 years. Sixteen cases (84.2%) were men from Indian and Spanish extraction and most of them were farmers and came from the Sierra of the Department of La Libertad. Two cases (10.5%) had non-related antecedents previous surgery. In six patients (31.6%) the volvulus was less than seven day's duration and in thirty (68.4%) it was more eight day's duration with previous attacks of obstruction (median: 19.3 days, range: 17 hours to 94 days). Pain, vomiting and distention were present in almost all of these cases. The most frequent abdominal finding was distention. The location of the volvulus was: ileum, 12 cases (63.2%), root of mesentery, 4 cases (21%) and jejunum, 3 cases (15.8%). Gangrenous bowel was present in six patients (31.5) and gangrenous intestine with perforation in two cases (10.5%) who underwent resection of the involved segment with primary anastomosis. In this group one patient (5.2%) died of sepsis and the wound infection rate was of 37.5%. There was no statistically significant correlation with the duration of illness and the presence of gangrenous loops or the mortality rate (p > 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)

  16. Predisposal management of high level radioactive waste. Safety guide

    International Nuclear Information System (INIS)

    2005-01-01

    Radioactive waste is generated in the generation of electricity in nuclear power plants and in the use of radioactive material in industry, research and medicine. The importance of the safe management of radioactive waste for the protection of human health and the environment has long been recognized. The principles and requirements that govern the safety of the management of radioactive waste are presented in 'The Principles of Radioactive Waste Management', 'Legal and Governmental Infrastructure for Nuclear, Radiation, Radioactive Waste and Transport Safety' and 'Predisposal Management of Radioactive Waste, Including Decommissioning'. The objective of this Safety Guide is to provide regulatory bodies and the operators that generate and manage radioactive waste with recommendations on how to meet the principles and requirements established in Refs for the predisposal management of HLW. This Safety Guide applies to the predisposal management of HLW. For liquid HLW arising from the reprocessing of spent fuel the recommendations of this Safety Guide apply from when liquid waste from the first extraction process is collected for storage and subsequent processing. Recommendations and guidance on the storage of spent fuel, whether or not declared as waste, subsequent to its removal from the storage facility of a reactor are provided in Refs. For spent fuel declared as waste this Safety Guide applies to all activities subsequent to its removal from the storage facility of a reactor and prior to its disposal. Requirements pertaining to the transport of spent fuel, whether or not declared as waste, and of all forms of HLW are established. This Safety Guide provides recommendations on the safety aspects of managing HLW, including the planning, design, construction, commissioning, operation and decommissioning of equipment or facilities for the predisposal management of HLW. It addresses the following elements: (a) The characterization and processing (i.e. pretreatment

  17. Risky sexual behavior and predisposing factors among students of ...

    African Journals Online (AJOL)

    BACKGROUND: Students of higher institutions are assumed to be exposed to many risky sexual behaviors. However, little has been explored about the magnitude of risky behavior and predisposing factors in the context of higher education institutions in Ethiopia. Thus, the objective of this study was to assess the pattern of ...

  18. The predisposing pathology and clinical characteristics in the Scottish retinal detachment study.

    Science.gov (United States)

    Mitry, Danny; Singh, Jaswinder; Yorston, David; Siddiqui, M A Rehman; Wright, Alan; Fleck, Brian W; Campbell, Harry; Charteris, David G

    2011-07-01

    To describe the predisposing pathology and clinical features of all incident cases of rhegmatogenous retinal detachment (RRD) recruited in Scotland during a 2-year period. Prospective surveillance study of incident cases of RRD. All incident cases of RRD recruited as part of the Scottish Retinal Detachment Study. During a 2-year period, we coordinated a comprehensive system in which every case of primary RRD presenting to 1 of 6 vitreoretinal surgical sites in Scotland was examined and approached for study inclusion. Rhegmatogenous retinal detachment incidence, predisposing features, and clinical characteristics. A total of 1202 cases were recruited. Detailed clinical information was available on 1130 (94%) of cases. By causative break, the proportions of RRD were horseshoe tear (HST) associated with posterior vitreous detachment (PVD) in 86.2%, giant retinal tear (GRT) and PVD in 1.3%, non-PVD round hole (RH) in 4.9%, retinal dialysis in 5.9%, and retinoschisis RRD in 1.6%. One in 10 cases reported significant ocular trauma. One in 5 cases were pseudophakic. Round hole RRD more frequently presented with multiple retinal breaks compared with HST RRD (67.8% vs. 48.7%; P = 0.003). In PVD-associated RRD, 56.1% (95% confidence interval [CI], 53.8-58.3) of breaks were identified in the superotemporal retina. In non-PVD RRD, 54.6% (95% CI, 47.9-61.1) of breaks were inferotemporal, followed by superotemporal in 34.9% (95% CI, 28.7-41.5). Lattice degeneration was present in 18.7% of affected eyes and more common in RH RRD (35.7%) than in HST RRD (19.3%) (P = 0.003). Seven percent reported an affected first-degree relative, and these cases were significantly more myopic than nonfamilial cases. More than 85% of RRD cases are associated with PVD and related tractional tears. Non-PVD RH RRD occurred in younger and more myopic individuals. The majority of cases are caused by more than 1 retinal break, and the macula is affected in more than 50% at presentation. Ocular trauma

  19. Presymptomatic Diagnosis of Celiac Disease in Predisposed Children: The Role of Gene Expression Profile.

    Science.gov (United States)

    Galatola, Martina; Cielo, Donatella; Panico, Camilla; Stellato, Pio; Malamisura, Basilio; Carbone, Lorenzo; Gianfrani, Carmen; Troncone, Riccardo; Greco, Luigi; Auricchio, Renata

    2017-09-01

    The prevalence of celiac disease (CD) has increased significantly in recent years, and risk prediction and early diagnosis have become imperative especially in at-risk families. In a previous study, we identified individuals with CD based on the expression profile of a set of candidate genes in peripheral blood monocytes. Here we evaluated the expression of a panel of CD candidate genes in peripheral blood mononuclear cells from at-risk infants long time before any symptom or production of antibodies. We analyzed the gene expression of a set of 9 candidate genes, associated with CD, in 22 human leukocyte antigen predisposed children from at-risk families for CD, studied from birth to 6 years of age. Nine of them developed CD (patients) and 13 did not (controls). We analyzed gene expression at 3 different time points (age matched in the 2 groups): 4-19 months before diagnosis, at the time of CD diagnosis, and after at least 1 year of a gluten-free diet. At similar age points, controls were also evaluated. Three genes (KIAA, TAGAP [T-cell Activation GTPase Activating Protein], and SH2B3 [SH2B Adaptor Protein 3]) were overexpressed in patients, compared with controls, at least 9 months before CD diagnosis. At a stepwise discriminant analysis, 4 genes (RGS1 [Regulator of G-protein signaling 1], TAGAP, TNFSF14 [Tumor Necrosis Factor (Ligand) Superfamily member 14], and SH2B3) differentiate patients from controls before serum antibodies production and clinical symptoms. Multivariate equation correctly classified CD from non-CD children in 95.5% of patients. The expression of a small set of candidate genes in peripheral blood mononuclear cells can predict CD at least 9 months before the appearance of any clinical and serological signs of the disease.

  20. Healthcare Utilization by Older Age Groups in Northern States of Peninsular Malaysia: The Role of Predisposing, Enabling and Need Factors.

    Science.gov (United States)

    Samsudin, Shamzaeffa; Abdullah, Norehan

    2017-06-01

    Determining factors that affect healthcare utilization by the elderly is vital for the health system to be more responsive in providing care to this vulnerable group. The main objective of this paper is to identify the effect of the predisposing, enabling, and need factors on doctor visits and in-patient care for the elderly residing in the northern region of Malaysia. A multistage cluster sampling was used in selecting the sample for the study. A total of 1414 respondents aged 60 and over were interviewed face-to-face using a structured questionnaire. A probit model was used in estimating the utilization equations. At a significance level of 0.05, except for age, all predisposing and enabling factors were not statistically significant in affecting the doctor visits. On the other hand, being a male, smoker, medical insurance holder or had not actively involved in social interaction within the reference period increases the likelihood of being in-patient. Health-related variables remain the most significant factors that determine healthcare utilization, including both doctor visits and in-patient stays, in the area of study, which suggests that government policies to improve population health may influence the level of healthcare use in the future.

  1. Transcriptome profiling reveals novel expression markers that predispose patients to develop post- photorefractive keratectomy corneal haze

    Directory of Open Access Journals (Sweden)

    Nimisha Nimisha

    2017-10-01

    Full Text Available Photorefractive keratectomy is an excimer laser [1] based ablation surgery of corneal surface used for correcting refractive errors. Corneal haze is the result of an aggressive wound healing response with an incidence rate [2] of 1.44% post PRK, making it an important health burden. Studies thus far have only focused on molecular alterations post haze development. Since the corneal epithelium is an important mediator of the stromal haze response, we studies its role in predisposing subjects to develop aberrant wound healing response. Corneal epithelium samples collected intra-operatively from clinically healthy patients during PRK. This epithelium from 6 eyes that developed haze postoperatively and 10 eyes of age matched controls without haze were compared. Gene expression microarrays were performed for the mRNA samples followed by ontological analysis of underlying molecular pathways. The identified targets were validated in an independent set of post haze epithelial samples from 3 subjects with PRK induced haze. In vitro studies were done on HCE cells for differential dose of TGFβ for inflammatory markers, corneal structure & fibrosis associated genes and regulators of signal transduction. In addition, loss and gain of function studies was performed using PREX1 as a novel, prototype target. Mean age of groups was 25-28 years. A total of 1100 up and 1700 down regulated genes were revealed by microarray. Alterations in Oxidative stress, ECM-Receptor interactions, Wnt signaling pathway and CXC motif containing chemokines contributes to cellular proliferation and wound healing, which is observed in in vitro model. In cornea novel target PREX1, an oxidative stress gene, when over expressed exhibits faster wound closure in HCE cells with and without TGFβ. Loss of function using PREX1 shRNA shows reduced wound closure. Our study shows that novel genes are involved in pathogenesis of post PRK haze. PREX1 over expression results in faster wound

  2. Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma.

    Science.gov (United States)

    Bourdeaut, Franck; Miquel, Catherine; Richer, Wilfrid; Grill, Jacques; Zerah, Michel; Grison, Camille; Pierron, Gaelle; Amiel, Jeanne; Krucker, Clementine; Radvanyi, Francois; Brugieres, Laurence; Delattre, Olivier

    2014-02-01

    Medulloblastomas (MB) are classified in four subgroups: the well defined WNT and Sonic Hedgehog (SHH) subgroups, and the less defined groups 3 and 4. They occasionally occur in the context of a cancer predisposition syndrome. While germline APC mutations predispose to WNT MB, germline mutations in SUFU, PTCH1, and TP53 predispose to SHH tumors. We report on a child with a Rubinstein-Taybi syndrome (RTS) due to a germline deletion in CREBBP, who developed a MB. Biological profilings demonstrate that this tumor belongs to the group 3. RTS may therefore be the first predisposition syndrome identified for non-WNT/non-SHH MB. © 2013 Wiley Periodicals, Inc.

  3. Astroglial c-Myc overexpression predisposes mice to primary malignant gliomas

    DEFF Research Database (Denmark)

    Jensen, Niels Aagaard; Pedersen, Karen-Marie; Lihme, Frederikke

    2003-01-01

    Malignant astrocytomas are common human primary brain tumors that result from neoplastic transformation of astroglia or their progenitors. Here we show that deregulation of the c-Myc pathway in developing astroglia predisposes mice to malignant astrocytomas within 2-3 weeks of age. The genetically...... engineered murine (GEM) gliomas harbor a molecular signature resembling that of human primary glioblastoma multiforme, including up-regulation of epidermal growth factor receptor and Mdm2. The GEM gliomas seem to originate in an abnormal population of glial fibrillary acidic protein-expressing cells...... the neoplastic process, presumably by inducing the sustained growth of early astroglial cells. This is in contrast to most other transgenic studies in which c-Myc overexpression requires co-operating transgenes for rapid tumor induction....

  4. Studies of genetic variability of the glucose transporter 2 promoter in patients with type 2 diabetes mellitus

    DEFF Research Database (Denmark)

    Møller, A M; Jensen, N M; Pildal, J

    2001-01-01

    This study was performed to test the hypothesis that genetic variation in the promoter of the glucose transporter 2 (GLUT2) might predispose to prediabetic phenotypes or type 2 diabetes. A total of 1611 bp comprising the minimal promoter region of the GLUT2 gene were examined by combined single......-tolerant subjects. In conclusion, we found no evidence supporting the hypothesis that genetic variability in the minimal promoter of the GLUT2 is associated with type 2 diabetes or prediabetic phenotypes in the Danish population.......-strand conformational polymorphism and heteroduplex analysis followed by direct sequencing of identified variants on genomic DNA from 96 randomly recruited Danish type 2 diabetic patients. We identified 4 nucleotide variants, -447g-->a, -149c-->a, -122t-->c, and -44g-->a. None of the variants were positioned in known...

  5. Constitutional abnormalities of chromosome 21 predispose to iAMP21-acute lymphoblastic leukaemia.

    Science.gov (United States)

    Harrison, Christine J; Schwab, Claire

    2016-03-01

    In addition to Down syndrome, individuals with other constitutional abnormalities of chromosome 21 have an increased risk of developing childhood acute lymphoblastic leukaemia (ALL). Specifically, carriers of the Robertsonian translocation between chromosomes 15 and 21, rob(15;21) (q10; q10)c, have ∼2,700 increased risk of developing ALL with iAMP21 (intrachromosomal amplification of chromosome 21). In these patients, chromosome 15 as well as chromosome 21 is involved in the formation of iAMP21, referred to here as der(21)(15;21). Individuals with constitutional ring chromosomes involving chromosome 21, r(21)c, are also predisposed to iAMP21-ALL, involving the same series of mutational processes as seen in sporadic- and der(21)(15;21)-iAMP21 ALL. Evidence is accumulating that the dicentric nature of the Robertsonian and ring chromosome is the initiating factor in the formation of the complex iAMP21 structure. Unravelling these intriguing predispositions to iAMP21-ALL may provide insight into how other complex rearrangements arise in cancer. Copyright © 2016. Published by Elsevier Masson SAS.

  6. Child behavioural problems and body size among 2-6 year old children predisposed to overweight. results from the "healthy start" study.

    Science.gov (United States)

    Olsen, Nanna J; Pedersen, Jeanett; Händel, Mina N; Stougaard, Maria; Mortensen, Erik L; Heitmann, Berit L

    2013-01-01

    Psychological adversities among young children may be associated with childhood overweight and obesity. We examined if an increased level of child behavioural problems was associated with body size among a selected group of 2-6 year old children, who were all predisposed to develop overweight. Cross-sectional analyses were conducted using baseline data from the "Healthy Start" intervention study. A total of 3058 children were invited to participate, and data from 583 children who were all predisposed for obesity was analyzed. The Danish version of the Strengths and Difficulties Questionnaire (SDQ) was used to assess child stress by the SDQ Total Difficulties (SDQ-TD) score and the Prosocial Behavior (PSB) score. Height and weight were measured, and BMI z-scores were calculated. A direct, but non-significant linear trend was found between SDQ-TD score and BMI z-score (β = 0.021, p = 0.11). Having an SDQ-TD score above the 90(th) percentile was associated with BMI z-score (β = 0.36, p = 0.05). PSB score was not associated with BMI z-score. Analyses were adjusted for parental socioeconomic status, parental BMI, family structure, dietary factors, physical activity, and family stress level. The results suggested a threshold effect between SDQ-TD score and BMI z-score, where BMI z-score was associated with childhood behavioural problems only for those with the highest scores of SDQ-TD. No significant association between PSB score and BMI z-score was found.

  7. Factors predisposing to low birth weight in Jimma Hospital South ...

    African Journals Online (AJOL)

    Background: Low birth weight continues to remain a major public health problem in Ethiopia in contrast to what is observed in many developing countries. Objectives: To assess some of the predisposing factors to low birth weight among deliveries in Jimma hospital. Design: Cross-sectional case referent study.

  8. Studies of genetic variability of the glucose transporter 2 promoter in patients with type 2 diabetes mellitus

    DEFF Research Database (Denmark)

    Møller, A M; Jensen, N M; Pildal, J

    2001-01-01

    This study was performed to test the hypothesis that genetic variation in the promoter of the glucose transporter 2 (GLUT2) might predispose to prediabetic phenotypes or type 2 diabetes. A total of 1611 bp comprising the minimal promoter region of the GLUT2 gene were examined by combined single-s......-tolerant subjects. In conclusion, we found no evidence supporting the hypothesis that genetic variability in the minimal promoter of the GLUT2 is associated with type 2 diabetes or prediabetic phenotypes in the Danish population.......This study was performed to test the hypothesis that genetic variation in the promoter of the glucose transporter 2 (GLUT2) might predispose to prediabetic phenotypes or type 2 diabetes. A total of 1611 bp comprising the minimal promoter region of the GLUT2 gene were examined by combined single...

  9. Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

    DEFF Research Database (Denmark)

    Hansen, Thomas V O; Bisgaard, Marie Luise; Jønson, Lars

    2008-01-01

    whole blood. The paternity was determined by single nucleotide polymorphism (SNP) microarray analysis. Parental origin of the de novo mutation was determined by establishing mutation-SNP haplotypes by variant specific PCR, while de novo and mosaic status was investigated by sequencing of DNA from......BACKGROUND: BRCA2 germ-line mutations predispose to breast and ovarian cancer. Mutations are widespread and unclassified splice variants are frequently encountered. We describe the parental origin and functional characterization of a novel de novo BRCA2 splice site mutation found in a patient...... and synthesis of a truncated BRCA2 protein. The aberrant splicing was verified by RT-PCR analysis on RNA isolated from whole blood of the affected patient. The mutation was not found in any of the patient's parents or in the mother's carcinoma, showing it is a de novo mutation. Variant specific PCR indicates...

  10. Predisposing factors for developing gastric volvulus and the role of ...

    African Journals Online (AJOL)

    Two cases of gastric volvulus are presented to highlight the predisposing factors, mechanism and different types of volvulus, and the role of imaging in making the diagnosis. Eventration of the diaphragm and hiatus hernia are precipitating factors for developing organo-axial and mesentero-axial volvulus. Imaging is key to ...

  11. Determination of Drug Susceptibility of Candida Strains Isolated From Patients With Recurrent Candida Vulvovaginitis and Investigation of Predisposing Factors of the Disease

    Directory of Open Access Journals (Sweden)

    Minooeianhaghighi MH

    2017-03-01

    Full Text Available Introduction: Recurrent Vulvovaginal Candidiasis RVVC(, which is mostly caused by Candida albicans C. albicans(, is the second common cause of genital tract infection in females. Th purpose of this research was to identify Candida isolates from RVVC, identify predisposing factors and determine antifungal effct of flconazole against Candida strains isolated from the patients. Methods: In this descriptive-laboratory study, 20 patients with confimed diagnosis of RVVC were selected. Yeast isolates were characterized using mycological standard methods, including culture on Sabouraud dextrose agar medium and CHROM agar, germ tube test and polymerase chain reaction-restriction fragment length polymorphism PCR-RFLP( technique. Th susceptibility of Candida isolates against flconazole was determined by microdilution broth method. Results: Th average age of the patients was 29.43 ± 4.63 years. Candida albicans was obtained from 100% of the samples. Th most common clinical sign was vaginal discharge 60%( in females with positive culture. Statistical correlations were observed between parturition frequency and low RVVC occurrence as well as between the previous antifungal therapy and RVVC occurrence. Th mean minimum inhibitory concentration MIC( and minimum fungicidal concentration MFC( of flconazole against diffrent C. albicans strains was determined as 45.3863 µg/mL and 63 µg/mL, respectively. Conclusion: Due to the uncertainty of diagnosis of this disease according to clinical symptoms and also, due to the resistance of Candida species, using culture and molecular methods are recommended as standard methods of diagnosis.

  12. Macrosomic births in abuja: A case–control study of predisposing ...

    African Journals Online (AJOL)

    Macrosomic births in abuja: A case–control study of predisposing factors and early neonatal outcome. ... Journal Home > Vol 20, No 3 (2017) > ... Independent predictors of macrosomia were parental high social class (P = 0.000), gestational weight gain of ≥15 kg (P = 0.000), and previous history of macrosomia (P = 0.002).

  13. Factors predisposing nursing home resident to inappropriate transfer to emergency department. The FINE study protocol

    Directory of Open Access Journals (Sweden)

    Amélie Perrin

    2017-09-01

    Full Text Available Background: Each year, around one out of two nursing home (NH residents are hospitalized in France, and about half to the emergency department (ED. These transfers are frequently inappropriate. This paper describes the protocol of the FINE study. The first aim of this study is to identify the factors associated with inappropriate transfers to ED. Methods/design: FINE is a case-control observational study. Sixteen hospitals participate. Inclusion period lasts 7 days per season in each center for a total period of inclusion of one year. All the NH residents admitted in ED during these periods are included. Data are collected in 4 times: before transfer in the NH, at the ED, in hospital wards in case of patient's hospitalization and at the patient's return to NH. The appropriateness of ED transfers (i.e. case versus control NH residents is determined by a multidisciplinary team of experts. Results: Our primary objective is to determine the factors predisposing NH residents to inappropriate transfer to ED. Our secondary objectives are to assess the cost of the transfers to ED; study the evolution of NH residents' functional status and the psychotropic and inappropriate drugs prescription between before and after the transfer; calculate the prevalence of potentially avoidable transfers to ED; and identify the factors predisposing NH residents to potentially avoidable transfer to ED. Discussion: A better understanding of the determinant factors of inappropriate transfers to ED of NH residents may lead to proposals of recommendations of better practice in NH and would allow implementing quality improvement programs in the health organization. Keywords: Inappropriate transfer, Nursing home resident, Emergency department transfer, Potentially avoidable transfer, Appropriateness of transfer, Inappropriate hospitalization

  14. Gaps in patient care practices to prevent hospital-acquired delirium.

    Science.gov (United States)

    Alagiakrishnan, Kannayiram; Marrie, Thomas; Rolfson, Darryl; Coke, William; Camicioli, Richard; Duggan, D'Arcy; Launhardt, Bonnie; Fisher, Bruce; Gordon, Debbie; Hervas-Malo, Marilou; Magee, Bernice; Wiens, Cheryl

    2009-10-01

    To evaluate the current patient care practices that address the predisposing and precipitating factors contributing to the prevention of hospital-acquired delirium in the elderly. Prospective cohort (observational) study. Patients 65 years of age and older who were admitted to medical teaching units at the University of Alberta Hospital in Edmonton over a period of 7 months and who were at risk of delirium. Medical teaching units at the University of Alberta. Demographic data and information on predisposing factors for hospital-acquired delirium were obtained for all patients. Documented clinical practices that likely prevent common precipitants of delirium were also recorded. Of the 132 patients enrolled, 20 (15.2%) developed hospital-acquired delirium. At the time of admission several predisposing factors were not documented (eg, possible cognitive impairment 16 [12%], visual impairment 52 [39.4%], and functional status of activities of daily living 99 [75.0%]). Recorded precipitating factors included catheter use, screening for dehydration, and medications. Catheters were used in 35 (26.5%) patients, and fluid intake-and-output charting assessed dehydration in 57 (43.2%) patients. At the time of admission there was no documentation of hearing status in 69 (52.3%) patients and aspiration risk in 104 (78.8%) patients. After admission, reorientation measures were documented in only 16 (12.1%) patients. Although all patients had brief mental status evaluations performed once daily, this was not noted to occur twice daily (which would provide important information about fluctuation of mental status) and there was no formal attention span testing. In this study, hospital-acquired delirium was also associated with increased mortality (P < .004), increased length of stay (P < .007), and increased institutionalization (P < .027). Gaps were noted in patient care practices that might contribute to hospital-acquired delirium and also in measures to identify the development

  15. Child behavioural problems and body size among 2-6 year old children predisposed to overweight. results from the "healthy start" study.

    Directory of Open Access Journals (Sweden)

    Nanna J Olsen

    Full Text Available OBJECTIVE: Psychological adversities among young children may be associated with childhood overweight and obesity. We examined if an increased level of child behavioural problems was associated with body size among a selected group of 2-6 year old children, who were all predisposed to develop overweight. METHODS: Cross-sectional analyses were conducted using baseline data from the "Healthy Start" intervention study. A total of 3058 children were invited to participate, and data from 583 children who were all predisposed for obesity was analyzed. The Danish version of the Strengths and Difficulties Questionnaire (SDQ was used to assess child stress by the SDQ Total Difficulties (SDQ-TD score and the Prosocial Behavior (PSB score. Height and weight were measured, and BMI z-scores were calculated. RESULTS: A direct, but non-significant linear trend was found between SDQ-TD score and BMI z-score (β = 0.021, p = 0.11. Having an SDQ-TD score above the 90(th percentile was associated with BMI z-score (β = 0.36, p = 0.05. PSB score was not associated with BMI z-score. Analyses were adjusted for parental socioeconomic status, parental BMI, family structure, dietary factors, physical activity, and family stress level. CONCLUSION: The results suggested a threshold effect between SDQ-TD score and BMI z-score, where BMI z-score was associated with childhood behavioural problems only for those with the highest scores of SDQ-TD. No significant association between PSB score and BMI z-score was found.

  16. Genetic factors predisposing to homosexuality may increase mating success in heterosexuals

    NARCIS (Netherlands)

    Zietsch, B.P.; Morley, K.I.; Shekar, S.N.; Verweij, K.J.H.; Keller, M.C.; MacGregor, S.; Wright, M.J.; Bailey, J.M.; Martin, N.G.

    2008-01-01

    There is considerable evidence that human sexual orientation is genetically influenced, so it is not known how homosexuality, which tends to lower reproductive success, is maintained in the population at a relatively high frequency. One hypothesis proposes that while genes predisposing to

  17. [Renal failure in patients with liver transplant: incidence and predisposing factors].

    Science.gov (United States)

    Gerona, S; Laudano, O; Macías, S; San Román, E; Galdame, O; Torres, O; Sorkin, E; Ciardullo, M; de Santibañes, E; Mastai, R

    1997-01-01

    Renal failure is a common finding in patients undergoing orthotopic liver transplantation. The aim of the present study was to evaluate the incidence, prognostic value of pre, intra and postoperative factors and severity of renal dysfunction in patients who undergo liver transplantation. Therefore, the records of 38 consecutive adult patients were reviewed. Renal failure was defined arbitrarily as an increase in creatinine (> 1.5 mg/dl) and/or blood urea (> 80 mg/dl). Three patients were excluded of the final analysis (1 acute liver failure and 2 with a survival lower than 72 hs.) Twenty one of the 35 patients has renal failure after orthotopic liver transplantation. Six of these episodes developed early, having occurred within the first 6 days. Late renal impairment occurred in 15 patients within the hospitalization (40 +/- 10 days) (Mean +/- SD). In he overall series, liver function, evaluated by Child-Pugh classification, a higher blood-related requirements and cyclosporine levels were observed more in those who experienced renal failure than those who did not (p renal failure was related with preoperative (liver function) and intraoperative (blood requirements) factors and several causes (nephrotoxic drugs and graft failure) other than cyclosporine were present in patients who developed late renal impairment. No mortality. No mortality was associated with renal failure. We conclude that renal failure a) is a common finding after liver transplantation, b) the pathogenesis of this complication is multifactorial and, c) in not related with a poor outcome.

  18. Predisposal of Radioactive Waste from NPP 1000 MWe

    International Nuclear Information System (INIS)

    Suryantoro

    2007-01-01

    Predisposal of radioactive waste from NPP 1000 MW which was planned to be operated in 2016 has been conducted. In this study NPP applying PWR type was assumed. This assessment comprises all aspects of radioactive waste coming from NPP. One through cycle was chosen consequently no reprocessing step will be conducted. The assessment shows that technologically all radioactive waste treatment process rising from NPP operation has similarities to the existing radioactive waste process conducted by RWI which has lower scale of waste amount. (author)

  19. Posttraumatic Stress Disorder among Danish Soldiers 2.5 Years after Military Deployment in Afghanistan: The Role of Personality Traits as Predisposing Risk Factors

    Directory of Open Access Journals (Sweden)

    Janne Hellerup Nielsen

    2015-02-01

    Full Text Available Understanding the development of posttraumatic stress disorder (PTSD implicates research regarding factors besides the preceding traumatic event. This study investigated the influence of predisposing personality traits on development of PTSD in a group of Danish Soldiers deployed to Afghanistan (N = 445. Using a prospective design data was collected using questionnaires including the NEO Five Factor Inventory and the Posttraumatic Stress Disorder Checklist. The results showed a PTSD-prevalence of 9.2% in the total sample 2.5 years after homecoming. Using Kruskal-Wallis, Mann-Whitney U, and Spearman¡'s rho significant relationships were identified between pre-existing personality traits of neuroticism and agreeableness with development of PTSD symptoms 2.5 years after homecoming, however, a number of additional cofounders were identified.

  20. The Predisposing Factors between Dental Caries and Deviations from Normal Weight.

    Science.gov (United States)

    Chopra, Amandeep; Rao, Nanak Chand; Gupta, Nidhi; Vashisth, Shelja; Lakhanpal, Manav

    2015-04-01

    Dental caries and deviations from normal weight are two conditions which share several broadly predisposing factors. So it's important to understand any relationship between dental state and body weight if either is to be managed appropriately. The study was done to find out the correlation between body mass index (BMI), diet, and dental caries among 12-15-year-old schoolgoing children in Panchkula District. A multistage sample of 12-15-year-old school children (n = 810) in Panchkula district, Haryana was considered. Child demographic details and diet history for 5 days was recorded. Data regarding dental caries status was collected using World Health Organization (1997) format. BMI was calculated and categorized according to the World Health Organization classification system for BMI. The data were subjected to statistical analysis using chi-square test and binomial regression developed using the Statistical Package for Social Sciences (SPSS) 20.0. The mean Decayed Missing Filled Teeth (DMFT) score was found to be 1.72 with decayed, missing, and filled teeth to be 1.22, 0.04, and 0.44, respectively. When the sample was assessed based on type of diet, it was found that vegetarians had higher mean DMFT (1.72) as compared to children having mixed diet. Overweight children had highest DMFT (3.21) which was followed by underweight (2.31) and obese children (2.23). Binomial regression revealed that females were 1.293 times at risk of developing caries as compared to males. Fair and poor Simplified-Oral Hygiene Index (OHI-S) showed 3.920 and 4.297 times risk of developing caries as compared to good oral hygiene, respectively. Upper high socioeconomic status (SES) is at most risk of developing caries. Underweight, overweight, and obese are at 2.7, 2.5, and 3 times risk of developing caries as compared to children with normal BMI, respectively. Dental caries and deviations from normal weight are two conditions which share several broadly predisposing factors such as diet

  1. Cardiotoxicity in cancer patients treated with 5-fluorouracil or capecitabine

    DEFF Research Database (Denmark)

    Polk, Anne; Vaage-Nilsen, Merete Bech; Vistisen, Kirsten

    2013-01-01

    To systematically review the incidence, manifestations and predisposing factors for cardiovascular toxicity in cancer patients treated with systemic 5-fluorouracil or capecitabine.......To systematically review the incidence, manifestations and predisposing factors for cardiovascular toxicity in cancer patients treated with systemic 5-fluorouracil or capecitabine....

  2. Predisposing factors for peripheral intravenous puncture failure in children

    OpenAIRE

    Negri,Daniela Cavalcante de; Avelar,Ariane Ferreira Machado; Andreoni,Solange; Pedreira,Mavilde da Luz Gonçalvez

    2012-01-01

    OBJECTIVE: To identify predisposing factors for peripheral intravenous puncture failure in children. METHODS: Cross-sectional cohort study conducted with 335 children in a pediatric ward of a university hospital after approval of the ethics committee. The Wald Chi-squared, Prevalence Ratio (PR) and backward procedure (p≤0.05) tests were applied. RESULTS: Success of peripheral intravenous puncture was obtained in 300 (89.5%) children and failure in 35 (10.4%). The failure rates were sign...

  3. Peripheral QCT: a low risk procedure to identify women predisposed to osteoporosis

    International Nuclear Information System (INIS)

    Mueller, A.; Rueegsegger, E.; Rueegsegger, P.

    1989-01-01

    A low-risk procedure is described for the precise quantitation of changes of trabecular and cortical bone density at peripheral measuring sites. The method is based on quantitative computed tomography (QCT). Bone parameters are calculated for a sample volume common to all examinations of a patient. This is achieved by matching stacks of tomograms according to the cross sectional area of the bone measured. With the help of a special-purpose CT system the described procedure enables a reproducibility for trabecular and cortical bone parameters of 0.3% (1 SD) at a local radiation dose of of 0.1 mSv (10 mrem). The method was used to assess the individual changes in bone density of 39 perimenopausal women during an observation period of 2 to 3 years. The results are grouped according to their menstrual state. Regularly menstruating women experience minute or no changes in bone density. After menopause the interindividual differences are considerable: some women lose bone excessively, others remain relatively stable. The frequency distribution of the rate of bone loss appears to be bimodal. Hence women can be classified in fast losers and slow losers. We conclude that the rate of bone loss may be most helpful in the identification of those women predisposed to osteoporosis. (author)

  4. Pregnancy predispose to higher incidence of venous thromboembolism

    DEFF Research Database (Denmark)

    Andersen, Anita Sylvest; Bergholt, Thomas; Salvig, Jannie Dalby

    2015-01-01

    Venous thromboembolism (VTE) is a major cause of maternal morbidity and mortality despite the possibility to prevent and treat the disorder. The hypercoagulability of normal pregnancy predispose to an approximately six-fold higher incidence of VTE in pregnancy. Identification of risk pregnancies...... and start of prophylaxis is essential, as is early diagnosis of VTE to prevent progression and pulmonary embolism. For anticoagulant treatment and prophylaxis in pregnancy, low molecular weight heparin is the drug of choice and prophylaxis, if indicated, should initiate as soon as pregnancy is confirmed....

  5. Mycoplasma ovipneumoniae can predispose bighorn sheep to fatal Mannheimia haemolytica pneumonia.

    Science.gov (United States)

    Dassanayake, Rohana P; Shanthalingam, Sudarvili; Herndon, Caroline N; Subramaniam, Renuka; Lawrence, Paulraj K; Bavananthasivam, Jegarubee; Cassirer, E Frances; Haldorson, Gary J; Foreyt, William J; Rurangirwa, Fred R; Knowles, Donald P; Besser, Thomas E; Srikumaran, Subramaniam

    2010-10-26

    Mycoplasma ovipneumoniae has been isolated from the lungs of pneumonic bighorn sheep (BHS). However experimental reproduction of fatal pneumonia in BHS with M. ovipneumoniae was not successful. Therefore the specific role, if any, of M. ovipneumoniae in BHS pneumonia is unclear. The objective of this study was to determine whether M. ovipneumoniae alone causes fatal pneumonia in BHS, or predisposes them to infection by Mannheimia haemolytica. We chose M. haemolytica for this study because of its isolation from pneumonic BHS, and its consistent ability to cause fatal pneumonia under experimental conditions. Since in vitro culture could attenuate virulence of M. ovipneumoniae, we used ceftiofur-treated lung homogenates from pneumonic BHS lambs or nasopharyngeal washings from M. ovipneumoniae-positive domestic sheep (DS) as the source of M. ovipneumoniae. Two adult BHS were inoculated intranasally with lung homogenates while two others received nasopharyngeal washings from DS. All BHS developed clinical signs of respiratory infection, but only one BHS died. The dead BHS had carried leukotoxin-positive M. haemolytica in the nasopharynx before the onset of this study. It is likely that M. ovipneumoniae colonization predisposed this BHS to fatal infection with the M. haemolytica already present in this animal. The remaining three BHS developed pneumonia and died 1-5 days following intranasal inoculation with M. haemolytica. On necropsy, lungs of all four BHS showed lesions characteristic of bronchopneumonia. M. haemolytica and M. ovipneumoniae were isolated from the lungs. These results suggest that M. ovipneumoniae alone may not cause fatal pneumonia in BHS, but can predispose them to fatal pneumonia due to M. haemolytica infection. Copyright © 2010 Elsevier B.V. All rights reserved.

  6. Genetically deprived vitamin D exposure predisposes to atrial fibrillation.

    Science.gov (United States)

    Chan, Yap-Hang; Yiu, Kai-Hang; Hai, Jo Jo; Chan, Pak-Hei; Lam, Tai-Hing; Cowling, Ben J; Sham, Pak-Chung; Lau, Chu-Pak; Lam, Karen Siu-Ling; Siu, Chung-Wah; Tse, Hung-Fat

    2017-12-01

    Low vitamin D level is associated with atrial fibrillation (AF) and may be implicated in its pathogenesis. We studied single nucleotide polymorphisms (SNPs) of vitamin D mechanistic pathways and serum 25-hydroxyvitamin D [25(OH)D] levels in an age- and gender-matched case-control study (controls without AF: mean age 68.6 ± 8.7 years, female 25%; n = 1019; with AF: mean age 69.7 ± 9.5 years, female 30%; n = 156) recruited from a Chinese clinical cohort of patients with stable coronary artery disease. Twelve SNPs involved in the vitamin D mechanistic pathways were studied [biosynthetic: rs4646536, rs10877012, rs3829251, rs1790349; activation: rs2060793, rs1993116; vitamin D-binding protein (VBP)/group-specific component (GC): rs4588, rs7041, rs2282679, rs1155563; and vitamin D receptor: rs1544410, rs10735810]. A genetic risk score (GRS) (0-8) was constructed from SNPs associated with serum 25(OH)D as a proxy to lifelong vitamin D-deficient state. All 4 SNPs involved in the VBP/GC were significantly associated with serum 25(OH)D (rs4588, P  0.05). Vitamin D GRS (points 0-8) generated from these 4 SNPs was independently predictive of serum 25(OH)D [B = 0.54, 95% confidence interval (CI) 0.30-0.79; P < 0.001]. Genetically deprived vitamin D status as denoted by a low GRS (0-3) independently predicted an increased risk of AF, compared to a high GRS (4-8) (odds ratio = 1.848, 95% CI 1.217-2.805; P = 0.004). Genetically deprived vitamin D exposure predisposes to increased AF among patients with coronary artery disease. Whether VBP/GC may alter the risk of AF via alternative mechanisms warrants further studies. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: journals.permissions@oup.com.

  7. Taeniasis in non-descript dogs in Ngorongoro, Tanzania: Prevalence and predisposing factors

    Directory of Open Access Journals (Sweden)

    Emmanuel S. Swai

    2016-05-01

    Full Text Available The prevalence of taeniasis was determined during the period January to April 2013 in a cross-sectional study of non-descript domestic dogs from the livestock–wildlife ecosystem of Ngorongoro, Tanzania. Taeniid eggs were determined by screening faecal samples using the formalin-ether sedimentation technique. Predisposing factors for dog infection were assessed in relation to demographic, husbandry and management data. Of the 205 faecal samples screened, 150 (73.2% were positive for taeniid eggs. The prevalence of dogs harbouring taeniid eggs was 80%, 30.2% and 75.3% in the less than 1 year, 1–3 years and greater than 3 years of age groups, respectively. Age group and sex prevalence in dogs did not differ significantly (P > 0.05, although the females showed a marginally higher prevalence (73.8% in comparison to the males (72.7%. Taeniid eggs were significantly more likely to be found in the faeces of dogs located in Waso (80.6% and Endulen (75% than in Malambo (63.2%, P < 0.05. The study revealed that dogs owned and raised by agro-pastoralists were at a lower risk of acquiring Taenia spp. infection (P = 0.001 than those that were raised by pastoralists. The majority of dog owners were not aware of the predisposing factors and the mode of transmission of taeniids. Dogs were frequently fed on viscera, trimmings and the heads of slaughtered animals, and they were not treated for parasitic infections. The findings of this study indicate that taeniasis is prevalent among non-descript dogs in Ngorongoro, underscoring the need for further research and active surveillance to better understand the transmission cycle of Taenia spp. in a wider geographical area in Tanzania.

  8. Novel germline MSH2 mutation in lynch syndrome patient surviving multiple cancers

    Directory of Open Access Journals (Sweden)

    Janavicius Ramunas

    2012-01-01

    Full Text Available Abstract Lynch syndrome (LS individuals are predisposed to a variety of cancers, most commonly colorectal, uterine, urinary tract, ovarian, small bowel, stomach and biliary tract cancers. The risk of extracolonic manifestations appears to be highest in MSH2 mutations carriers. We present a carrier case with a novel MSH2 gene mutation that clearly demonstrates the broad extent of LS phenotypic expression and highlights several important clinical aspects. Current evidence suggests that colorectal tumors from LS patients tend to have better prognoses than their sporadic counterparts, however survival benefits for other cancers encountered in LS are unclear. In this article we describe a family with a novel protein truncating mutation of c.2388delT in the MSH2 gene, particularly focusing on one individual carrier affected with multiple primary cancers who is surviving 25 years on. Our report of multiple primary tumors occurring in the 12-25 years interval might suggest these patients do not succumb to other extracolonic cancers, provided they are regularly followed-up.

  9. Analysis of extrinsic and intrinsic factors that predispose elderly individuals to fall.

    Science.gov (United States)

    Almeida, Sionara Tamanini de; Soldera, Cristina Loureiro Chaves; Carli, Geraldo Attilio de; Gomes, Irênio; Resende, Thais de Lima

    2012-01-01

    In a sample of elderly individuals from Porto Alegre - RS, Brazil, to analyze the intrinsic and extrinsic factors that predispose them to the risk of falls and fractures. The study included a random sample of 267 elderly individuals, to whom two balance tests were applied: the Functional Reach Test (FRT) and the Timed Up and Go Test (TUG). The elderly also answered a questionnaire (13 questions divided into four categories) on sociodemographic and health factors. Elderly individuals from both genders (76.8% women), aged between 60 and 90 years (mean = 70.22 years, SD = ± 7.30 years) participated in the study. A statistically significant association (p factors that predispose to the risk of falls and fractures are older age, poor self-perception of eyesight, and poor selfrated health; the extrinsic factors are type of dwelling (living in a house) and a monthly income < one minimum wage.

  10. Struggling in an emotional avoidance culture: a qualitative study of stress as a predisposing factor for somatoform disorders.

    Science.gov (United States)

    Lind, Annemette Bondo; Delmar, Charlotte; Nielsen, Klaus

    2014-02-01

    To explore patterns of experienced stress and stress reactions before the onset of illness in the life history of patients with severe somatoform disorders to identify predisposing stress-mechanisms. A systematic, thematic analysis was conducted on data collected from 24 semi-structured individual life history interviews. Generally, patients had experienced high psychosocial stress during childhood/youth. However, there was considerable variability. Characteristic of all patients were narrations of how communication with significant adults about problems, concerns, and emotions related to stress were experienced to be difficult. The patients described how this involved conflicts stemming from perceived absent, insufficient, or dismissive communication during interactions with significant adults. We conceptualized this empirically based core theme as "emotional avoidance culture." Further, three related subthemes were identified: Generally, patients 1.) experienced difficulties communicating problems, concerns, and related complex feelings in close social relations; 2.) adapted their emotional reactions and communication to an emotional avoidance culture, suppressing their needs, vulnerability and feelings of sadness and anger that were not recognized by significant adults; and 3.) disconnected their stress reaction awareness from stressful bodily sensations by using avoidant behaviors e.g. by being highly active. Patients adapted to an emotional avoidance culture characterized by difficult and conflicting communication of concerns and related emotions in social interactions with significant adults. Patients experienced low ability to identify and express stress-related cognitions, emotions and feelings, and low bodily and emotional self-contact, which made them vulnerable to stressors. Generally, patients resolved stress by avoidant behaviors, prolonging their stress experience. Copyright © 2013 Elsevier Inc. All rights reserved.

  11. The mycotoxin deoxynivalenol predisposes for the development of Clostridium perfringens-induced necrotic enteritis in broiler chickens.

    Science.gov (United States)

    Antonissen, Gunther; Van Immerseel, Filip; Pasmans, Frank; Ducatelle, Richard; Haesebrouck, Freddy; Timbermont, Leen; Verlinden, Marc; Janssens, Geert Paul Jules; Eeckhaut, Venessa; Eeckhout, Mia; De Saeger, Sarah; Hessenberger, Sabine; Martel, An; Croubels, Siska

    2014-01-01

    Both mycotoxin contamination of feed and Clostridium perfringens-induced necrotic enteritis have an increasing global economic impact on poultry production. Especially the Fusarium mycotoxin deoxynivalenol (DON) is a common feed contaminant. This study aimed at examining the predisposing effect of DON on the development of necrotic enteritis in broiler chickens. An experimental Clostridium perfringens infection study revealed that DON, at a contamination level of 3,000 to 4,000 µg/kg feed, increased the percentage of birds with subclinical necrotic enteritis from 20±2.6% to 47±3.0% (Peffect on in vitro growth, alpha toxin production and netB toxin transcription of Clostridium perfringens. In conclusion, feed contamination with DON at concentrations below the European maximum guidance level of 5,000 µg/kg feed, is a predisposing factor for the development of necrotic enteritis in broilers. These results are associated with a negative effect of DON on the intestinal barrier function and increased intestinal protein availability, which may stimulate growth and toxin production of Clostridium perfringens.

  12. Alternative Splicing of AMPA subunits in Prefrontal Cortical Fields of Cynomolgus Monkeys following Chronic Ethanol Self-Administration

    Directory of Open Access Journals (Sweden)

    Glen eAcosta

    2012-01-01

    Full Text Available Functional impairment of the orbital and medial prefrontal cortex underlies deficits in executive control that characterize addictive disorders, including alcohol addiction. Previous studies indicate that alcohol alters glutamate neurotransmission and one substrate of these effects may be through the reconfiguration of the subunits constituting ionotropic glutamate receptor (iGluR complexes. Glutamatergic transmission is integral to cortico-cortical and cortico-subcortical communication and alcohol-induced changes in the abundance of the receptor subunits and/or their splice variants may result in critical functional impairments of prefrontal cortex in alcohol dependence. To this end, the effects of chronic ethanol self-administration on glutamate receptor ionotropic AMPA (GRIA subunit variant and kainate (GRIK subunit mRNA expression were studied in the orbitofrontal cortex (OFC, dorsolateral prefrontal cortex (DLPFC and anterior cingulate cortex (ACC of male cynomolgus monkeys. In DLPFC, total AMPA splice variant expression and total kainate receptor subunit expression were significantly decreased in alcohol drinking monkeys. Expression levels of GRIA3 flip and flop and GRIA4 flop mRNAs in this region were positively correlated with daily ethanol intake and blood ethanol concentrations averaged over the six months prior to necropsy. In OFC, AMPA subunit splice variant expression was reduced in the alcohol treated group. GRIA2 flop mRNA levels in this region were positively correlated with daily ethanol intake and blood ethanol concentrations averaged over the six months prior to necropsy. Results from these studies provide further evidence of transcriptional regulation of iGluR subunits in the primate brain following chronic alcohol self-administration. Additional studies examining the cellular localization of such effects in the framework of primate prefrontal cortical circuitry are warranted.

  13. COMPARATIVE EVALUATION OF RISK FACTORS FOR CARDIOVASCULAR DISEASE (CVD) IN GENETICALLY PREDISPOSED RATS

    Science.gov (United States)

    Rodent CVD models are increasingly used for understanding individual differences in susceptibility to environmental stressors such as air pollution. We characterized pathologies and a number of known human risk factors of CVD in genetically predisposed, male young adult Spontaneo...

  14. Diet- and colonization-dependent intestinal dysfunction predisposes to necrotizing enterocolitis in preterm pigs

    DEFF Research Database (Denmark)

    Sangild, Per T.; Siggers, Richard H.; Schmidt, Mette

    2006-01-01

    Background & Aims: Preterm birth and formula feeding are key risk factors associated with necrotizing enterocolitis (NEC) in infants, but little is known about intestinal conditions that predispose to disease. Thus, structural, functional, and microbiologic indices were used to investigate...

  15. Vitamin D deficiency in mice impairs colonic antibacterial activity and predisposes to colitis.

    Science.gov (United States)

    Lagishetty, Venu; Misharin, Alexander V; Liu, Nancy Q; Lisse, Thomas S; Chun, Rene F; Ouyang, Yi; McLachlan, Sandra M; Adams, John S; Hewison, Martin

    2010-06-01

    Vitamin D insufficiency is a global health issue. Although classically associated with rickets, low vitamin D levels have also been linked to aberrant immune function and associated health problems such as inflammatory bowel disease (IBD). To test the hypothesis that impaired vitamin D status predisposes to IBD, 8-wk-old C57BL/6 mice were raised from weaning on vitamin D-deficient or vitamin D-sufficient diets and then treated with dextran sodium sulphate (DSS) to induce colitis. Vitamin D-deficient mice showed decreased serum levels of precursor 25-hydroxyvitamin D(3) (2.5 +/- 0.1 vs. 24.4 +/- 1.8 ng/ml) and active 1,25-dihydroxyvitamin D(3) (28.8 +/- 3.1 vs. 45.6 +/- 4.2 pg/ml), greater DSS-induced weight loss (9 vs. 5%), increased colitis (4.71 +/- 0.85 vs. 1.57 +/- 0.18), and splenomegaly relative to mice on vitamin D-sufficient chow. DNA array analysis of colon tissue (n = 4 mice) identified 27 genes consistently (P < 0.05) up-regulated or down-regulated more than 2-fold in vitamin D-deficient vs. vitamin D-sufficient mice, in the absence of DSS-induced colitis. This included angiogenin-4, an antimicrobial protein involved in host containment of enteric bacteria. Immunohistochemistry confirmed that colonic angiogenin-4 protein was significantly decreased in vitamin D-deficient mice even in the absence of colitis. Moreover, the same animals showed elevated levels (50-fold) of bacteria in colonic tissue. These data show for the first time that simple vitamin D deficiency predisposes mice to colitis via dysregulated colonic antimicrobial activity and impaired homeostasis of enteric bacteria. This may be a pivotal mechanism linking vitamin D status with IBD in humans.

  16. The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.

    Science.gov (United States)

    Duran, Raquel; Mencacci, Niccolo E; Angeli, Aikaterini V; Shoai, Maryam; Deas, Emma; Houlden, Henry; Mehta, Atul; Hughes, Derralynn; Cox, Timothy M; Deegan, Patrick; Schapira, Anthony H; Lees, Andrew J; Limousin, Patricia; Jarman, Paul R; Bhatia, Kailash P; Wood, Nicholas W; Hardy, John; Foltynie, Tom

    2013-02-01

    Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD). Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD. One hundred and eighty-five PD patients (with an onset age of ≤50) and 283 age-matched controls were screened for GBA1 mutations by Sanger sequencing. We show that the frequency of GBA1 mutations is much higher in this patient series than in typical late-onset patient cohorts. Furthermore, our results reveal that the most prevalent PD-associated GBA1 mutation is E326K, a variant that does not, when homozygous, cause GD. Our results confirm recent reports that the mutation, E326K, predisposes to PD and suggest that, in addition to reduced GBA1 activity, other molecular mechanisms may contribute to the development of the disease. Copyright © 2012 Movement Disorders Society.

  17. Low blood glucose precipitates spike-and-wave activity in genetically predisposed animals.

    Science.gov (United States)

    Reid, Christopher A; Kim, Tae Hwan; Berkovic, Samuel F; Petrou, Steven

    2011-01-01

    Absence epilepsies are common, with a major genetic contribution to etiology. Certain environmental factors can influence absence occurrence but a complete understanding of absence precipitation is lacking. Herein we investigate if lowering blood glucose increases spike-wave activity in mouse models with varying seizure susceptibility. Three mouse models were used: an absence seizure model based on the knockin of a human GABA(A) γ2(R43Q) mutation (DBA(R43Q)), the spike-wave discharge (SWD)-prone DBA/2J strain, and the seizure resistant C57Bl/6 strain. Electrocorticography (ECoG) studies were recorded to determine SWDs during hypoglycemia induced by insulin or overnight fasting. An insulin-mediated reduction in blood glucose levels to 4 mm (c.a. 40% reduction) was sufficient to double SWD occurrence in the DBA(R43Q) model and in the SWD-prone DBA/2J mouse strain. Larger reductions in blood glucose further increased SWDs in both these models. However, even with large reductions in blood glucose, no discharges were observed in the seizure-resistant C57Bl/6 mouse strain. Injection of glucose reversed the impact of insulin on SWDs in the DBA(R43Q) model, supporting a reduction in blood glucose as the modulating influence. Overnight fasting reduced blood glucose levels to 4.5 mm (c.a. 35% reduction) and, like insulin, caused a doubling in occurrence of SWDs. Low blood glucose can precipitate SWDs in genetically predisposed animal models and should be considered as a potential environmental risk factor in patients with absence epilepsy. Wiley Periodicals, Inc. © 2010 International League Against Epilepsy.

  18. Serum potassium monitoring for users of ethinyl estradiol/drospirenone taking medications predisposing to hyperkalemia: physician compliance and survey of knowledge and attitudes.

    Science.gov (United States)

    Mona Eng, Patricia; Seeger, John D; Loughlin, Jeanne; Oh, Kelly; Walker, Alexander M

    2007-02-01

    physicians whose patients had potassium tests, physicians of patients without such tests were more likely to disagree with the recommendation for users of angiotensin-converting enzyme inhibitors, angiotensin II receptor antagonists, heparin and nonsteroidal anti-inflammatory drugs. Patient barriers and health plan restrictions were other factors possibly contributing to noncompliance. This study demonstrates incomplete physician compliance with a labeling recommendation of potassium monitoring for initiators of EE/DRSP receiving concomitant therapy predisposing to hyperkalemia. The limited compliance was likely due to a combination of selective physician acceptance of the recommendations and specific patient and health plan barriers to testing.

  19. Is age a predisposing factor of postoperative complications after lung resection for primary pulmonary neoplasms?

    Science.gov (United States)

    Cañizares Carretero, Miguel-Ángel; García Fontán, Eva-María; Blanco Ramos, Montserrat; Soro García, José; Carrasco Rodríguez, Rommel; Peña González, Emilio; Cueto Ladrón de Guevara, Antonio

    2017-03-01

    Age has been classically considered as a determining factor for the development of postoperative complications related to lung resection for bronchogenic carcinoma. The Postoperative Complications Study Group of the Spanish Society of Thoracic Surgery has promoted a registry to analyze this factor. A total of 3,307 patients who underwent any type of surgical resection for bronchogenic carcinoma have been systematically and prospectively recorded in any of the 24 units that are part of the group. Several variables related to comorbidity and age, as well as postoperative complications, were analyzed. The mean age of patients was 65,44. Men were significantly more common than female. The most frequent complication was prolonged air leak, which was observed in more than one third of patients. In a univariant analysis, air leak presence and postsurgical atelectasis showed statistical association with patient age, when stratified in age groups. In a multivariate analysis, age was recognized as an independent prognostic factor in relation to air leak onset. However, this could not be confirmed for postoperative atelectasis. Age is a predisposing factor for the development of postoperative complications after lung resection. Other associated factors also influence the occurrence of these complications. Copyright © 2017 AEC. Publicado por Elsevier España, S.L.U. All rights reserved.

  20. Child behavioural problems and body size among 2-6 year old children predisposed to overweight. results from the "healthy start" study

    DEFF Research Database (Denmark)

    Olsen, Nanna J; Pedersen, Jeanett; Händel, Mina N

    2013-01-01

    OBJECTIVE: Psychological adversities among young children may be associated with childhood overweight and obesity. We examined if an increased level of child behavioural problems was associated with body size among a selected group of 2-6 year old children, who were all predisposed to develop...... and Difficulties Questionnaire (SDQ) was used to assess child stress by the SDQ Total Difficulties (SDQ-TD) score and the Prosocial Behavior (PSB) score. Height and weight were measured, and BMI z-scores were calculated. RESULTS: A direct, but non-significant linear trend was found between SDQ-TD score and BMI z......, and family stress level. CONCLUSION: The results suggested a threshold effect between SDQ-TD score and BMI z-score, where BMI z-score was associated with childhood behavioural problems only for those with the highest scores of SDQ-TD. No significant association between PSB score and BMI z-score was found....

  1. Absence of the predisposing factors and signs and symptoms usually associated with overreaching and overtraining in physical fitness centers

    Directory of Open Access Journals (Sweden)

    Carolina Ackel-D'Elia

    2010-01-01

    Full Text Available OBJECTIVE: The aim of this study was to evaluate the occurrence of the well-known predisposing factors and signs and symptoms usually associated with either overreaching or overtraining syndrome in physical fitness centers in São Paulo City, Brazil. METHOD: A questionnaire consisting of 13 question groups pertaining to either predisposing factors (1-7 or signs and symptoms (8-13 was given to 413 subjects. The general training schedule of the volunteers was characterized by workout sessions of 2.18 ± 0.04 h for a total of 11.0 ± 0.3 h/week for 33 ± 2 months independent of the type of exercise performed (walking, running, spinning, bodybuilding and stretching. A mean score was calculated ranging from 1 (completely absent to 5 (severe for each question group. A low occurrence was considered to be a question group score lower than 4, which was observed in all 13 question groups. RESULTS: The psychological evaluation by POMS Mood State Questionnaire indicated a normal non-inverted iceberg. The hematological parameters, creatine kinase activity, cortisol, total testosterone and free testosterone concentrations were within the normal ranges for the majority of the volunteers selected for this analysis (n = 60. CONCLUSION: According to the questionnaire score analysis, no predisposing factors or signs and symptoms usually associated with either overreaching or overtraining were detected among the members of physical fitness centers in São Paulo City, Brazil. This observation was corroborated by the absence of any significant hematological or stress hormone level alterations in blood analyses of the majority of the selected volunteers (n = 60.

  2. Frequency of Atherogenic Risk in Type 2 Diabetes Mellitus and Non ...

    African Journals Online (AJOL)

    ... diabetes, hypertension, contraceptive use and certain genetic predisposing factors. ... Objectives: Was to assess the degree of atherogenic risk in type 2 DM and ... hundred (100) type 2 diabetes mellitus patients and ninety-two (92) healthy ...

  3. Association of the insertion allele of the common ACE gene polymorphism with type 2 diabetes mellitus among Kuwaiti cardiovascular disease patients.

    Science.gov (United States)

    Al-Serri, Ahmad; Ismael, Fatma G; Al-Bustan, Suzanne A; Al-Rashdan, Ibrahim

    2015-12-01

    The D allele of the common angiotensin-converting enzyme (ACE) I/D gene polymorphism (rs4646994) predisposes to type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD). However, results on which allele predisposes to disease susceptibility remain controversial in Asian populations. This study was performed to evaluate the association of the common ACE I/D gene polymorphism with both T2DM and CVD susceptibility in an Arab population. We genotyped the ACE I/D polymorphisms by direct allele-specific PCR in 183 healthy controls and 400 CVD patients with diabetes (n=204) and without (n=196). Statistical analysis comparing between the different groups were conducted using R statistic package "SNPassoc". Two genetic models were used: the additive and co-dominant models. The I allele was found to be associated with T2DM (OR=1.84, p=0.00009) after adjusting for age, sex and body mass index. However, there was no association with CVD susceptibility (p>0.05). The ACE I allele is found to be associated with T2DM; however, no association was observed with CVD. The inconsistency between studies is suggested to be attributed to genetic diversity due to the existence of sub-populations found in Asian populations. © The Author(s) 2015.

  4. Environmental Disruption of Circadian Rhythm Predisposes Mice to Osteoarthritis-Like Changes in Knee Joint

    Science.gov (United States)

    Voigt, Robin M; Ellman, Michael B; Summa, Keith C; Vitaterna, Martha Hotz; Keshavarizian, Ali; Turek, Fred W; Meng, Qing-Jun; Stein, Gary S.; van Wijnen, Andre J.; Chen, Di; Forsyth, Christopher B; Im, Hee-Jeong

    2015-01-01

    Circadian rhythm dysfunction is linked to many diseases, yet pathophysiological roles in articular cartilage homeostasis and degenerative joint disease including osteoarthritis (OA) remains to be investigated in vivo. Here, we tested whether environmental or genetic disruption of circadian homeostasis predisposes to OA-like pathological changes. Male mice were examined for circadian locomotor activity upon changes in the light:dark (LD) cycle or genetic disruption of circadian rhythms. Wild-type (WT) mice were maintained on a constant 12 hour:12 hour LD cycle (12:12 LD) or exposed to weekly 12 hour phase shifts. Alternatively, male circadian mutant mice (ClockΔ19 or Csnk1etau mutants) were compared with age-matched WT littermates that were maintained on a constant 12:12 LD cycle. Disruption of circadian rhythms promoted osteoarthritic changes by suppressing proteoglycan accumulation, upregulating matrix-degrading enzymes and downregulating anabolic mediators in the mouse knee joint. Mechanistically, these effects involved activation of the PKCδ-ERK-RUNX2/NFκB and β-catenin signaling pathways, stimulation of MMP-13 and ADAMTS-5, as well as suppression of the anabolic mediators SOX9 and TIMP-3 in articular chondrocytes of phase-shifted mice. Genetic disruption of circadian homeostasis does not predispose to OA-like pathological changes in joints. Our results, for the first time, provide compelling in vivo evidence that environmental disruption of circadian rhythms is a risk factor for the development of OA-like pathological changes in the mouse knee joint. PMID:25655021

  5. Astroglia overexpressing heme oxygenase-1 predispose co-cultured PC12 cells to oxidative injury.

    Science.gov (United States)

    Song, Linyang; Song, Wei; Schipper, Hyman M

    2007-08-01

    The mechanisms responsible for the progressive degeneration of dopaminergic neurons and pathologic iron deposition in the substantia nigra pars compacta of patients with Parkinson's disease (PD) remain unclear. Heme oxygenase-1 (HO-1), the rate-limiting enzyme in the oxidative degradation of heme to ferrous iron, carbon monoxide, and biliverdin, is upregulated in affected PD astroglia and may contribute to abnormal mitochondrial iron sequestration in these cells. To determine whether glial HO-1 hyper-expression is toxic to neuronal compartments, we co-cultured dopaminergic PC12 cells atop monolayers of human (h) HO-1 transfected, sham-transfected, or non-transfected primary rat astroglia. We observed that PC12 cells grown atop hHO-1 transfected astrocytes, but not the astroglia themselves, were significantly more susceptible to dopamine (1 microM) + H(2)O(2) (1 microM)-induced death (assessed by nuclear ethidium monoazide bromide staining and anti-tyrosine hydroxylase immunofluorescence microscopy) relative to control preparations. In the experimental group, PC12 cell death was attenuated significantly by the administration of the HO inhibitor, SnMP (1.5 microM), the antioxidant, ascorbate (200 microM), or the iron chelators, deferoxamine (400 microM), and phenanthroline (100 microM). Exposure to conditioned media derived from HO-1 transfected astrocytes also augmented PC12 cell killing in response to dopamine (1 microM) + H(2)O(2) (1 microM) relative to control media. In PD brain, overexpression of HO-1 in nigral astroglia and accompanying iron liberation may facilitate the bioactivation of dopamine to neurotoxic free radical intermediates and predispose nearby neuronal constituents to oxidative damage. (c) 2007 Wiley-Liss, Inc.

  6. Mutations in complement regulatory proteins predispose to preeclampsia: a genetic analysis of the PROMISSE cohort.

    Directory of Open Access Journals (Sweden)

    Jane E Salmon

    2011-03-01

    Full Text Available Pregnancy in women with systemic lupus erythematosus (SLE or antiphospholipid antibodies (APL Ab--autoimmune conditions characterized by complement-mediated injury--is associated with increased risk of preeclampsia and miscarriage. Our previous studies in mice indicate that complement activation targeted to the placenta drives angiogenic imbalance and placental insufficiency.We use PROMISSE, a prospective study of 250 pregnant patients with SLE and/or APL Ab, to test the hypothesis in humans that impaired capacity to limit complement activation predisposes to preeclampsia. We sequenced genes encoding three complement regulatory proteins--membrane cofactor protein (MCP, complement factor I (CFI, and complement factor H (CFH--in 40 patients who had preeclampsia and found heterozygous mutations in seven (18%. Five of these patients had risk variants in MCP or CFI that were previously identified in atypical hemolytic uremic syndrome, a disease characterized by endothelial damage. One had a novel mutation in MCP that impairs regulation of C4b. These findings constitute, to our knowledge, the first genetic defects associated with preeclampsia in SLE and/or APL Ab. We confirmed the association of hypomorphic variants of MCP and CFI in a cohort of non-autoimmune preeclampsia patients in which five of 59 were heterozygous for mutations.The presence of risk variants in complement regulatory proteins in patients with SLE and/or APL Ab who develop preeclampsia, as well as in preeclampsia patients lacking autoimmune disease, links complement activation to disease pathogenesis and suggests new targets for treatment of this important public health problem.ClinicalTrials.gov NCT00198068.

  7. OP-11 DO TRAUMATIC LIFE EVENTS PREDISPOSE CHILDREN TO DEVELOP CONSTIPATION?

    Science.gov (United States)

    Rrajindrajith, S; Devanarayana, N M; Rajapakshe, N N; Benninga, M A

    2015-10-01

    The aetiology of functional constipation (FC) in children is not been fully understood.Exposure to physical, emotional and sexual abuse are known to predispose children to develop FC. No paediatric study has evaluated traumatic life events other than abuse as a potential predisposing factor for FC in children. We aimed to assess the association between traumatic life events and development of FC in children. We conducted a cross sectional, school based study.Children aged 13-18 years were selected from four semi-urban schools in the Gampaha district, Sri Lanka. A validated, self-administered questionnaires were used for collect data on functional gastrointestinal disease and traumatic life events. FC was defined using the Rome III criteria. A total of1792 children were included in the analysis [males 975 (54.4%), mean age 14.4 years, SD 1.3 yearsyears]. Out of them, 138(7.7%) had FC. Prevalence of FC was significantly higher in those exposed to traumatic life events compared to controls (53.6% vs.32.9%,p children to develop FC. Parental substance abuse (12.8% vs. 7.4%), domestic violence (14.8 vs. 7.5%) were not associated with FC (p > 0.05). FC is associated with childhoodtraumatic experiences. This provides further insight intohow traumatic childhood events are associated withdevelopment and perpetuation of FC in children.

  8. The Glucocerobrosidase E326K Variant Predisposes to Parkinson’s Disease, But Does Not Cause Gaucher’s Disease

    Science.gov (United States)

    Angeli, Aikaterini V.; Shoai, Maryam; Deas, Emma; Houlden, Henry; Mehta, Atul; Hughes, Derralynn; Cox, Timothy M.; Deegan, Patrick; Schapira, Anthony H.; Lees, Andrew J.; Limousin, Patricia; Jarman, Paul R.; Bhatia, Kailash P.; Wood, Nicholas W.; Hardy, John; Foltynie, Tom

    2014-01-01

    Background Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher’s disease (GD), are the strongest known risk factor for Parkinson’s disease (PD). Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD. Methods One hundred and eighty-five PD patients (with an onset age of ≤50) and 283 age-matched controls were screened for GBA1 mutations by Sanger sequencing. Results We show that the frequency of GBA1 mutations is much higher in this patient series than in typical late-onset patient cohorts. Furthermore, our results reveal that the most prevalent PD-associated GBA1 mutation is E326K, a variant that does not, when homozygous, cause GD. Conclusions Our results confirm recent reports that the mutation, E326K, predisposes to PD and suggest that, in addition to reduced GBA1 activity, other molecular mechanisms may contribute to the development of the disease. PMID:23225227

  9. Potential Association of Triglyceride Glucose Index with Cardiac Autonomic Neuropathy in Type 2 Diabetes Mellitus Patients.

    Science.gov (United States)

    Akbar, Md; Bhandari, Uma; Habib, Anwar; Ahmad, Razi

    2017-07-01

    Cardiac autonomic neuropathy (CAN) is a common and most neglected complication of diabetes, estimated to be roughly 8% in recently diagnosed patients and greater than 50% in patients with chronic disease history. The insulin resistance (IR) itself is bidirectionally associated with increased risk of type 2 diabetes mellitus (T2DM) and CAN is a predisposing factor. The primary objective of the present study was aimed to find a correlation of triglyceride glucose index (TyG index) in CAN patients along with the prevalence of CAN in T2DM patients as a secondary objective. This prevalence study was conducted on 202 patients visiting the diabetic clinic of Hamdard Institute of Medical Sciences and Research, Jamia Hamdard (HIMSR) teaching hospital in New Delhi, India who fulfilled the inclusion criteria. The Ewings autonomic function test was used for diagnosis of CAN. TyG index was calculated for patients based on fasting levels of glucose and triglyceride. The CAN was diagnosed in 62 participants out of 202 T2DM patients (overall prevalence 30.7%). The mean ± standard deviation (SD) for TyG index was 10.3 ± 0.2 and 9.5 ± 0.2 in CAN positive, T2DM patients, respectively. The difference of TyG index, in CAN positive and T2DM patients, was highly significant (P index, duration, and age with patient groups. TyG index showed a positive correlation with heart rate during deep breathing (HRD), heart rate variation during standing (HRS), blood pressure (BP) response to handgrip and BP response to standing. Our finding highlights the TyG index, low-cost IR index, might be useful as an alternative tool for the early screening of patients at a high risk of diabetic neuropathy. © 2017 The Korean Academy of Medical Sciences.

  10. Explaining use of food parenting practices: the importance of predisposing factors and parental cognitions.

    Science.gov (United States)

    Gevers, Dorus Wm; van Assema, Patricia; de Vries, Nanne K; Kremers, Stef Pj

    2017-09-01

    The high energy intake from energy-dense foods among children in developed countries is undesirable. Improving food parenting practices has the potential to lower snack intakes among children. To inform the development of interventions, we aimed to predict food parenting practice patterns around snacking (i.e. 'high covert control and rewarding', 'low covert control and non-rewarding', 'high involvement and supportive' and 'low involvement and indulgent'). A cross-sectional survey was conducted. To predict the patterns of food parenting practices, multinomial logistic regression analyses were run with 888 parents. Predictors included predisposing factors (i.e. parents' and children's demographics and BMI, parents' personality, general parenting, and parenting practices used by their own parents) and parents' cognitions (i.e. perceived behaviour of other parents, subjective norms, attitudes, self-efficacy and outcome expectations). The Netherlands (October-November 2014). Dutch parents of children aged 4-12 years old. After backward elimination, nineteen factors had a statistically significant contribution to the model (Nagelkerke R 2=0·63). Overall, self-efficacy and outcome expectations were among the strongest explanatory factors. Considering the predisposing factors only, the general parenting factor nurturance most strongly predicted the food parenting clusters. Nurturance particularly distinguished highly involved parents from parents employing a pattern of low involvement. Parental cognitions and nurturance are important factors to explain the use of food parenting practices around snacking. The results suggest that intervention developers should attempt to increase self-efficacy and educate parents about what constitute effective and ineffective parenting practices. Promoting nurturance might be a prerequisite to achieve prolonged change.

  11. Drug: D09931 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available D09931 Drug Mibampator (USAN/INN) ... C21H30N2O4S2 D09931.gif ... Agitation/aggression associated with Alzh...eimer's disease GRIA [HSA:2890 2891 2892 2893] [KO:K05197 K05198 K05199 K05200] ... CAS: 375345-95-2 PubChem: 135626665 ChEMBL: CHEMBL1277001 LigandBox: D09931 ...

  12. Return-to-health effect of modern combined antiretroviral therapy potentially predisposes HIV patients to hepatic steatosis

    DEFF Research Database (Denmark)

    Mohr, Raphael; Boesecke, Christoph; Dold, Leona

    2018-01-01

    patients underwent CAP determination. Steatosis was classified as S1 (significant steatosis) with CAP > 238 dB/m, S2 with CAP > 260 dB/m, and S3 with CAP > 292 dB/m. Multivariable logistic regression analyses were performed to assess the factors associated with HS in this cohort.Significant HS was detected...... in 118 monoinfected patients (149 in the total cohort). In the total cohort as well as in the monoinfected patients alone, HS grade distribution showed a similar pattern (S1:29%, S2:34%, and S3:37%). Interestingly, patients with HS had a longer history of HIV infection and combined antiretroviral therapy...

  13. Sleep deprivation predisposes Gujarati Indian adolescents to obesity

    Directory of Open Access Journals (Sweden)

    Shaikh Wasim

    2009-01-01

    Full Text Available Background and Aim: Recent studies on various populations indicate that lack of sleep is one of the potential risk factors predisposing the youth to obesity. Since there is a significant rise in obesity among Indian youth and because research indicating the role of sleep in development of obesity among Indian population is scant, the current study was undertaken to assess the effect of sleep duration on adiposity among Gujarati Indian adolescents. Materials and Methods: A randomized cross-sectional study was done on 489 voluntarily participating Indian adolescents in the age group of 16-19 years. Participants were grouped into two categories 1. Adequate Sleep Duration at Night (more than seven hours, ASDN and 2 Inadequate Sleep Duration at Night (less than seven hours, IASDN as reported by the participants. The participants were later assessed for adiposity in terms of BMI, BF % , FM, FMI and waist circumference, meal frequency per day and physical activity status. Results: In both boys as well as girls, the BMI, BF%, FM and FMI were significantly lower in the ASDN group than the IASDN group. However, there was an insignificant difference in the meal frequency and physical activity status between the ASDN and IASDN group. Conclusion : Inadequate sleep duration increases adiposity among Gujarati Indian adolescents but further studies are required to find out the mechanisms through which sleep affects adiposity in this population.

  14. Effect of UGT2B7*2 and CYP2C8*4 polymorphisms on diclofenac metabolism

    NARCIS (Netherlands)

    Lazarska, Katarzyna E; Dekker, Stefan J; Vermeulen, Nico P E; Commandeur, Jan N M

    2018-01-01

    The use of diclofenac is associated with rare but severe drug-induced liver injury (DILI) in a very small number of patients. The factors which predispose susceptible patients to hepatotoxicity of diclofenac are still incompletely understood. Formation of protein-reactive metabolites by

  15. Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients

    International Nuclear Information System (INIS)

    Mihalatos, Markos; Fountzilas, George; Agnantis, Niki J; Nasioulas, Georgios; Apessos, Angela; Dauwerse, Hans; Velissariou, Voula; Psychias, Aristidis; Koliopanos, Alexander; Petropoulos, Konstantinos; Triantafillidis, John K; Danielidis, Ioannis

    2005-01-01

    Familial Adenomatous Polyposis (FAP) is caused by germline mutations in the APC (Adenomatous Polyposis Coli) gene. The vast majority of APC mutations are point mutations or small insertions / deletions which lead to truncated protein products. Splicing mutations or gross genomic rearrangements are less common inactivating events of the APC gene. In the current study genomic DNA or RNA from ten unrelated FAP suspected patients was examined for germline mutations in the APC gene. Family history and phenotype were used in order to select the patients. Methods used for testing were dHPLC (denaturing High Performance Liquid Chromatography), sequencing, MLPA (Multiplex Ligation – dependent Probe Amplification), Karyotyping, FISH (Fluorescence In Situ Hybridization) and RT-PCR (Reverse Transcription – Polymerase Chain Reaction). A 250 Kbp deletion in the APC gene starting from intron 5 and extending beyond exon 15 was identified in one patient. A substitution of the +5 conserved nucleotide at the splice donor site of intron 9 in the APC gene was shown to produce frameshift and inefficient exon skipping in a second patient. Four frameshift mutations (1577insT, 1973delAG, 3180delAAAA, 3212delA) and a nonsense mutation (C1690T) were identified in the rest of the patients. Screening for APC mutations in FAP patients should include testing for splicing defects and gross genomic alterations

  16. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

    NARCIS (Netherlands)

    Friend, S.H.; Bernards, R.A.; Rogelj, S.; Weinberg, R.A.; Rapaport, J.M.; Albert, D.M.; Dryja, Th.P.

    1986-01-01

    The genomes of various tumor cells contain mutant oncogenes that act dominantly, in that their effects can be observed when they are introduced into non-malignent cells. There is evidence for another class of oncogenes, in which tumour-predisposing mutations are recessive to wild-type alleles.

  17. Dietary copper: a novel predisposing factor for oral submucous fibrosis?

    Science.gov (United States)

    Arakeri, Gururaj; Brennan, Peter A

    2013-03-01

    Oral submucous fibrosis (OSMF) is known devastating disorder commonly seen in South Asian developing countries. It is directly linked to areca nut chewing and the contents of areca are subjected to multitude of investigations. Among all the contents of areca nut, the copper element has been extensively studied. Most of the published studies have validated its association with OSMF because of its local action. In this paper we postulate a novel biological pathway through which copper is thought to predispose oral mucosa to OSMF. The hypothesis is instructive in explaining various unexplored aspects of the disease. Copyright © 2012 Elsevier Ltd. All rights reserved.

  18. Predisposing factors for postoperative nausea and vomiting in gynecologic tumor patients.

    Science.gov (United States)

    de Souza, Daiane Spitz; Costa, Amine Farias; Chaves, Gabriela Villaça

    2016-11-01

    To evaluate the predictors of postoperative nausea and vomiting (PONV) in women with gynecologic tumor. The analysis was based on prospectively collected data of 82 adult patients with gynecologic tumor, who were submitted to open surgical treatment and undergoing general anesthesia. The predictors included were age ≥50 years, non-smoker, use of postoperative opioids, mechanical bowel preparation, intraoperative intravenous hydration (IH) ≥10 mL/kg/h, and IH in the immediate postoperative, first and second postoperative days (PO1 and PO2) ≥30 mL/kg. A score with predictor variables was built. A multiple logistic regression was fitted. To estimate the discriminating power of the chosen model, a receiver operating characteristic (ROC) curve was plotted and the area under the ROC curve (AUC) was calculated. Statistical significance was set at p value 30 mL/kg of IH in the PO2. The results of the adjusted model showed an increased risk of PONV for each 1-point increase in the score punctuation. The relative risk was higher than 2.0 for vomiting in all period and in the PO1. The ROC curve showed great discrimination of postoperative nausea and vomiting from the proposed score (AUC >0.75). The study population was at high risk of PONV. Therefore, institutional guidelines abolishing modificable variables following temporal evaluation of the effectiveness should be undertaken.

  19. Taeniasis in non-descript dogs in Ngorongoro, Tanzania: Prevalence and predisposing factors.

    Science.gov (United States)

    Swai, Emmanuel S; Miran, Miran B; Kasuku, Ayubu A; Nzalawahe, Jahashi

    2016-05-24

    The prevalence of taeniasis was determined during the period January to April 2013 in a cross-sectional study of non-descript domestic dogs from the livestock-wildlife ecosystem of Ngorongoro, Tanzania. Taeniid eggs were determined by screening faecal samples using the formalin-ether sedimentation technique. Predisposing factors for dog infection were assessed in relation to demographic, husbandry and management data. Of the 205 faecal samples screened, 150 (73.2%) were positive for taeniid eggs. The prevalence of dogs harbouring taeniid eggs was 80%, 30.2% and 75.3% in the less than 1 year, 1-3 years and greater than 3 years of age groups, respectively. Age group and sex prevalence in dogs did not differ significantly (P > 0.05), although the females showed a marginally higher prevalence (73.8%) in comparison to the males (72.7%). Taeniid eggs were significantly more likely to be found in the faeces of dogs located in Waso (80.6%) and Endulen (75%) than in Malambo (63.2%, P taeniasis is prevalent among non-descript dogs in Ngorongoro, underscoring the need for further research and active surveillance to better understand the transmission cycle of Taenia spp. in a wider geographical area in Tanzania.

  20. Peroneal tendinosis as a predisposing factor for the acute lateral ankle sprain in runners.

    Science.gov (United States)

    Ziai, Pejman; Benca, Emir; Wenzel, Florian; Schuh, Reinhard; Krall, Christoph; Auffahrt, Alexander; Hofstetter, Martin; Windhager, Reinhard; Buchhorn, Tomas

    2016-04-01

    A painful episode in the region of the peroneal tendons, within the retromalleolar groove, is a common precipitating event of an acute lateral ankle sprain. A forefoot striking pattern is suspected to cause peroneal tendinosis. The aim of this study is to analyse the role of peroneal tendinosis as a predisposing factor for ankle sprain trauma in runners. Fifty-eight runners who had experienced acute ankle sprain trauma, with pre-existing pain episodes for up to 4 weeks in the region of the peroneal tendons, were assessed clinically. Fractures were excluded by conventional radiography. An magnetic resonance imaging (MRI) scan had been performed within 14 days after the traumatic event and was subsequently evaluated by two experienced radiologists. MRI revealed peroneal tendinosis in 55 patients (95% of the total study population). Peroneus brevis (PB) tendinosis was found in 48 patients (87% of all patients with peroneal tendinosis), and peroneus longus (PL) tendinosis was observed in 42 cases (76%). Thirty-five patients (64%) had combined PB and PL tendinosis. A lesion of the anterior talofibular ligament was found to be the most common ligament injury associated with peroneal tendinosis (29 cases; 53%), followed by a lesion of the calcaneofibular ligament (16 cases; 29%) and a lesion of the posterior tibiofibular ligament (13 cases; 24%). The results of this study reflect the correlation between peroneal tendinosis and ankle sprain trauma. Injuries of one or more ligaments are associated with further complications. A period of rest or forbearance of sports as well as adequate treatment of the peroneal tendinosis is essential to prevent subsequent ankle injuries, especially in runners. Modification of the running technique would also be beneficial. IV.

  1. Two necrotic enteritis predisposing factors, dietary fishmeal and Eimeria infection, induce large changes in the caecal microbiota of broiler chickens.

    Science.gov (United States)

    Wu, Shu-Biao; Stanley, Dragana; Rodgers, Nicholas; Swick, Robert A; Moore, Robert J

    2014-03-14

    It is widely established that a high-protein fishmeal supplemented starter diet and Eimeria infection can predispose birds to the development of clinical necrotic enteritis symptoms following Clostridium perfringens infection. However, it has not been clearly established what changes these treatments cause to predispose birds to succumb to necrotic enteritis. We analysed caecal microbiota of 4 groups of broilers (n=12) using deep pyrosequencing of 16S rDNA amplicons: (1) control chicks fed a control diet, (2) Eimeria infected chicks fed control diet, (3) chicks fed fishmeal supplemented diet and lastly (4) both fishmeal fed and Eimeria infected chicks. We found that the high-protein fishmeal diet had a strong effect on the intestinal microbiota similar to the previously reported effect of C. perfringens infection. We noted major changes in the prevalence of various lactobacilli while the total culturable Lactobacillus counts remained stable. The Ruminococcaceae, Lachnospiraceae, unknown Clostridiales and Lactobacillaceae families were most affected by fishmeal with increases in a number of operational taxonomic units (OTUs) that had previously been linked to Crohn's disease and reductions in OTUs known to be butyrate producers. Eimeria induced very different changes in microbiota; Ruminococcaceae groups were reduced in number and three unknown Clostridium species were increased in abundance. Additionally, Eimeria did not significantly influence changes in pH, formic, propionic or isobutyric acid while fishmeal induced dramatic changes in all these measures. Both fishmeal feeding and Eimeria infection induced significant changes in the gut microbiota; these changes may play an important role in predisposing birds to necrotic enteritis. Copyright © 2014 Elsevier B.V. All rights reserved.

  2. A case of hypocholesterolemia and steatosis in a carrier of a PCSK9 loss-of-function mutation and polymorphisms predisposing to nonalcoholic fatty liver disease.

    Science.gov (United States)

    Di Filippo, Mathilde; Vokaer, Benoit; Seidah, Nabil G

    We report a new case of hypobetalipoproteinemia in a 44-year-old man of Peruvian origin exhibiting a heterozygous PCSK9 missense mutation (c.946 G>T, p. Gly316Cys). In vitro functional studies demonstrated that this mutation leads to a loss of function of PCSK9 on low-density lipoprotein receptor degradation. This patient exhibited liver steatosis; he was neither diabetic, nor obese or alcoholic, but is a carrier of 2 polymorphisms, p.Ile148Met (rs738409) and p.Glu167Lys (rs58542926) on PNPLA3 and TM6SF2 gene, respectively, previously shown to be associated with nonalcoholic steatosis and fibrosis evolution. These data suggested that if a resistance to hepatic steatosis mediated by the PCSK9 deficiency exists, as demonstrated in mice, it is not sufficient to prevent hepatic fatty accumulation in the case of genetic factors predisposing to nonalcoholic fatty liver disease. Copyright © 2017 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  3. Predisposing risk factors for delirium in living donor liver transplantation patients in intensive care units.

    Directory of Open Access Journals (Sweden)

    Szu-Han Wang

    Full Text Available BACKGROUND: Delirium is one of the main causes of increased length of intensive care unit (ICU stay among patients who have undergone living donor liver transplantation (LDLT. We aimed to evaluate risk factors for delirium after LDLT as well as to investigate whether delirium impacts the length of ICU and hospital stay. METHODS: Seventy-eight patients who underwent LDLT during the period January 2010 to December 2012 at a single medical center were enrolled. The Confusion Assessment Method for the Intensive Care Unit (CAM-ICU scale was used to diagnose delirium. Preoperative, postoperative, and hematologic factors were included as potential risk factors for developing delirium. RESULTS: During the study period, delirium was diagnosed in 37 (47.4% patients after LDLT. The mean onset of symptoms occurred 7.0±5.5 days after surgery and the mean duration of symptoms was 5.0±2.6 days. The length of stay in the ICU for patients with delirium (39.8±28.1 days was significantly longer than that for patients without delirium (29.3±19.0 days (p<0.05. Risk factors associated with delirium included history of alcohol abuse [odds ratio (OR = 6.40, 95% confidence interval (CI: 1.85-22.06], preoperative hepatic encephalopathy (OR = 4.45, 95% CI: 1.36-14.51, APACHE II score ≥16 (OR = 1.73, 95% CI: 1.71-2.56, and duration of endotracheal intubation ≥5 days (OR = 1.81, 95% CI: 1.52-2.23. CONCLUSIONS: History of alcohol abuse, preoperative hepatic encephalopathy, APACHE II scores ≥16 and endotracheal intubation ≥5 days were predictive of developing delirium in the ICU following liver transplantation surgery and were associated with increased length of ICU and hospital stay.

  4. Do Superior or Inferior Interlaminar Approach or Bevel Orientation Predispose to Nonepidural Needle Penetration?

    Science.gov (United States)

    Koontz, Nicholas A; Wiggins, Richard H; Stoddard, Gregory J; Shah, Lubdha M

    2017-10-01

    There is a paucity of evidence-based literature regarding the advantages and disadvantages of the interlaminar approach and needle bevel orientation for performing a lumbar interlaminar epidural steroid injection (ESI). The purpose of this study was to determine if superior versus inferior lamina approach, needle bevel tip orientation, or both may predispose to inadvertent nonepidural penetration during lumbar interlaminar ESI. A prospective study was performed of patients with low back pain with or without radicular pain or neurogenic claudication referred for lumbar interlaminar ESI. Two hundred eleven patients were randomized by interlaminar approach (superior vs inferior) and bevel tip orientation (cranial vs caudal). Lumbar interlaminar ESI was performed by six interventionalists of varying levels of experience using fluoroscopic guidance with curved tip epidural needles, using loss-of-resistance technique and confirmation with contrast opacification. Exact Poisson regression was used to model the study outcome. Two hundred twenty-one lumbar interlaminar ESIs were performed on 211 patients, randomized to a superior (n = 121) or inferior lamina approach (n = 100) and to a cranial (n = 103) or caudal (n = 118) orientation of the bevel tip. Epidural needle placement was confirmed in 96.4% (n = 213) of cases. Nonepidural needle placement was most commonly associated with superior lamina approach and caudal bevel tip orientation, which was marginally significant (adjusted risk ratio, 6.88; 95% CI, 0.93-∞; p = 0.059). Inadvertent nonepidural needle penetration during fluoroscopically guided lumbar interlaminar ESI appears to be affected by approach, with superior lamina approach and caudal bevel tip orientation being the least favorable technique.

  5. A Retrospective Analysis of Neonatal Encephalocele Predisposing Factors and Outcomes.

    Science.gov (United States)

    Yucetas, Seyho Cem; Uçler, Necati

    2017-01-01

    This study evaluates the predisposing factors and outcomes of surgical management of encephaloceles at our institution. A retrospective analysis of 32 occipital encephaloceles managed operatively at the Neurosurgery Department Clinics of the Faculty of Medicine, Adıyaman University, was performed between 2011 and 2015. Among the study population, 19 mothers had been exposed to TORCH infections (toxoplasma, rubella, cytomegalovirus, herpes simplex virus), 18 were in consanguineous marriages, and 3 had regular prenatal screening. Associated congenital anomalies were common. Eight infants required reoperation, and 9 died during follow-up. The study identified key areas for prevention. Knowledge of the intracranial and associated anomalies can guide management. © 2016 S. Karger AG, Basel.

  6. Rumen conditions that predispose cattle to pasture bloat.

    Science.gov (United States)

    Majak, W; Howarth, R E; Cheng, K J; Hall, J W

    1983-08-01

    Rumen contents from the dorsal sac were examined before alfalfa ingestion to determine factors that predispose cattle to pasture bloat. Chlorophyll concentration, buoyancy of particulate matter, and rates of gas production were significantly higher in cattle that subsequently bloated than in those that did not. Higher chlorophyll in bloat cases indicated accumulation of suspended chloroplast particles in the dorsal sac, perhaps due to increased buoyancy of the particulate matter. The higher fermentation rates (in the presence of glucose) suggested that the latent capacity for gas production was due to microbial colonization of suspended feed particles. Chlorophyll 4 h after feeding was also higher in bloated as compared to unbloated animals. In short, the microbial colonization and retention of particulate matter provided active inocula for promoting rapid legume digestion. Consequently, gas production was enhanced when feeding commenced, but the fermentation gases were trapped by the buoyant, frothy ingesta, resulting in the condition of pasture bloat.

  7. Proton magnetic resonance spectroscopy shows lower intramyocellular lipid accumulation in middle-aged subjects predisposed to familial longevity

    NARCIS (Netherlands)

    Wijsman, C. A.; van Opstal, A. M.; Kan, H. E.; Maier, A. B.; Westendorp, R. G.J.; Slagboom, P. E.; Webb, A. G.; Mooijaart, S. P.; van Heemst, D.

    Families predisposed to longevity show enhanced glucose tolerance and skeletal muscle insulin sensitivity compared with controls, independent of body composition and physical activity. Intramyocellular lipid (IMCL) accumulation in skeletal muscle has been associated with insulin resistance. Here, we

  8. diabetic patients

    Directory of Open Access Journals (Sweden)

    Mehraban Falahati

    2016-09-01

    candiduria and female gender, high FBS and urine glucose, uncontrolled diabetes (HbA1c ≥8, and acidic urine pH (P<0.05. Conclusion: Considering the high incidence rate of candiduria in diabetic patients, control of diabetes, predisposing factors, and causal relationships between diabetes and candiduria should be highlighted.

  9. [Individual psychological features in patients with computer game addiction suffering and predisposed persons].

    Science.gov (United States)

    Kardashian, R A

    2018-01-01

    To study personality characteristics in adolescents with computer game addiction. The study included students of grades 7 to 10 at the age of 12-17 years (14.6±2.4 years), their parents and school teachers. The results of a study showed the following combination in patients: 'genophilic' type of DPT with schizoid personality accentuation and 'projection' type of psychological protection, and 'dignitophilic' type of DPT with labile personality accentuation and 'denial' type of PP.

  10. Polymorphism of alcohol metabolizing gene ADH3 predisposes to development of alcoholic pancreatitis in North Indian population

    Directory of Open Access Journals (Sweden)

    Divya eSingh

    2015-12-01

    Full Text Available Background and aim- Genetic factors regulating alcohol metabolism could predispose in developing alcoholic pancreatitis (ACP. Studies revealed that alcohol could be metabolized by both ways, oxidative and non-oxidative. The main oxidative pathway includes alcohol dehydrogenase (ADH, aldehyde dehydrogenase (ALDH and cytochrome P450 enzyme. We investigated whether polymorphism in these alcohol metabolizing enzyme genes could be associated with alcoholic pancreatitis and is the purpose of our study. Method- Patients with alcoholic pancreatitis (ACP (n=72, tropical calcific pancreatitis (TCP (n=75, alcoholic controls (AC (n=40 and healthy controls (HC (n=100 were included in the study. Blood samples were collected from the subjects in EDTA coated vials. DNA was extracted and genotyping for ADH3, ALDH2 and CYP2E1 was done by PCR-RFLP (polymerase chain reaction- restriction fragment length polymorphism. The products were analyzed by gel electrophoresis. Result- The frequency distribution of ADH3*1/*1 genotype was significantly higher in ACP group (59.7% compared with TCP (38.7%, HC (42% and AC (37.5% and was found to be associated with increased risk of alcoholic pancreatitis. There was no statistically significant difference between the frequency distribution of ADH3*1/*1, ADH3*1/*2 and ADH3*2/*2 genotype between TCP and HC and healthy alcoholics. ALDH2 gene was monomorphic in our population, and the frequencies for CYP2E1 intron 6 Dra I polymorphism were comparable in all four groups. Conclusion- This study shows that carriers of ADH3*1/*1 individuals consuming alcohol are at higher risk for alcoholic pancreatitis than those with other genotypes such as ADH3*1/*2 and ADH3*2/*2.

  11. Duplex ultrasound: A diagnostic tool for carotid stenosis management in type 2 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    Yogan Kisten

    2013-07-01

    Full Text Available Background: Diabetic patients are at increased risk of developing cardiac events and stroke, and prevention of diabetes mellitus is therefore desirable. Marked geographical and ethnic variation in the prevalence of diabetes caused by urbanisation, demographic and epidemiological transitions has rendered this one of the major non-communicable diseases in South Africa. Duplex ultrasound (DUS plays an important role in primary health care in early detection of carotid atherosclerotic disease and the degree of carotid stenosis present. It is a reliable, cost-effective and non-invasive diagnostic tool. The purpose of this study was to determine the role of ultrasound in carotid stenosis management in type 2 diabetes mellitus (T2DM. Objectives: To determine the prevalence of carotid stenosis in a selected T2DM population using DUS and to correlate these findings with other predisposing atherosclerotic risk factors. Methods: The study setting was at an academic hospital in the Western Cape using carotid DUS reports of 103 diabetic subjects ≥ 35 years old. Predisposing risk factors were correlated with degree of carotid stenosis present. Data were analysed using the Fischer exact test, Chisquare and Student t-test. Results: Carotid DUS reports of 63 out of 103 T2DM patients revealed no evidence of a carotid stenosis, thereby lowering the risk profile. Forty patients were identified as having carotidstenosis; 22 symptomatic patients had a > 70% carotid stenosis which warranted surgicalintervention. A greater prevalence of stenosis in the Caucasian group, in both the male (p =0.0411 and female (p = 0.0458 cohorts, was noted. The overall trend suggested a relationship between T2DM and lifestyle, and a statistically significant relationship (p = 0.0063 between smoking and carotid stenosis was observed. Conclusion: T2DM and predisposing atherosclerotic risk factors significantly increased thepossibility of carotid stenosis development.

  12. Immunoproteomics of Helicobacter pylori infection in patients with atrophic body gastritis, a predisposing condition for gastric cancer.

    Science.gov (United States)

    Lahner, Edith; Bernardini, Giulia; Possenti, Silvia; Renzone, Giovanni; Scaloni, Andrea; Santucci, Annalisa; Annibale, Bruno

    2011-02-01

    Atrophic body gastritis is considered an outcome of H. pylori infection at high risk for gastric cancer. Immunoproteomics has been used to detect H. pylori antigens, which may act as potential markers for neoplastic disease and may be used in specific serological tests. We used immunoproteome technology to identify H. pylori antigens, recognized by sera from patients with atrophic body gastritis. Here, we performed 2DE protein maps of H. pylori strain 10K, probed against single sera from 3 groups of H. pylori-positive patients (atrophic body gastritis; intestinal-type gastric cancer; peptic ulcer) and negative controls. Immunoreactive spots were identified by MALDI-TOF-MS. A total of 155 immunoreactive spots were detected corresponding to 14.1% of total spots detected in our reference map of H. pylori strain 10K. Sera from atrophic body gastritis (40.5±2%) and gastric cancer patients (25.9±1.8%) showed a significantly higher and stronger mean immunoreactivity versus H. pylori antigens compared to peptic ulcer patients (11.2±1.3%). The average intensity of immunoreactivity of sera from atrophic body gastritis and gastric cancer patients was significantly stronger compared to peptic ulcer patients. Sera from atrophic body gastritis and gastric cancer patients differentially recognized 17 H. pylori spots. Immunoproteome technology may discriminate between different H. pylori-related disease phenotypes showing a serological immunorecognition pattern common to patients with gastric cancer and atrophic body gastritis, its precursor condition. This tool may be promising for developing specific serological tests to identify patients with gastritis at high risk for gastric cancer, to be evaluated in prospective investigations. Copyright © 2010 Elsevier GmbH. All rights reserved.

  13. Does a PBL-based medical curriculum predispose training in specific career paths? A systematic review of the literature.

    Science.gov (United States)

    Tsigarides, Jordan; Wingfield, Laura R; Kulendran, Myutan

    2017-01-07

    North American medical schools have used problem-based learning (PBL) structured medical education for more than 60 years. However, it has only recently been introduced in other medical schools outside of North America. Since its inception, there has been the debate on whether the PBL learning process predisposes students to select certain career paths. To review available evidence to determine the predisposition of specific career paths when undertaking a PBL-based medical curriculum. The career path trajectory was determined as measured by official Matching Programs, self-reported questionnaires and surveys, and formally defined career development milestones. A systematic literature review was performed. PubMed, Medline, Cochrane and ERIC databases were analysed in addition to reference lists for appropriate inclusion. Eleven studies fitting the inclusion criteria were identified. The majority of studies showed that PBL did not predispose a student to a career in a specific speciality (n = 7 out of 11 studies, 64%). However, three studies reported a significantly increased number of PBL graduates working in primary care compared to those from a non-PBL curriculum. PBL has been shown not to predispose medical students to a career in General Practice or any other speciality. Furthermore, a greater number of similar studies are required before a definitive conclusion can be made in the future.

  14. Incidence, risk factors and mortality of tuberculosis in Danish HIV patients 1995-2007

    DEFF Research Database (Denmark)

    Taarnhøj, Gry A.; Engsig, Frederik N; Ravn, Pernille

    2011-01-01

    Human Immunodeficiency Virus (HIV) infection predisposes to tuberculosis (TB). We described incidence, risk factors and prognosis of TB in HIV-1 infected patients during pre (1995-1996), early (1997-1999), and late Highly Active Antiretroviral Therapy (HAART) (2000-2007) periods.......Human Immunodeficiency Virus (HIV) infection predisposes to tuberculosis (TB). We described incidence, risk factors and prognosis of TB in HIV-1 infected patients during pre (1995-1996), early (1997-1999), and late Highly Active Antiretroviral Therapy (HAART) (2000-2007) periods....

  15. Medication Adherence Among Elderly Patients with High Blood Pressure in Gweru, Zimbabwe.

    Science.gov (United States)

    Wariva, Elizabeth; January, James; Maradzika, Julita

    2014-02-04

    High blood pressure is a global health concern which is mainly managed by taking anti-hypertensive medications. Although medication is available to control high blood pressure, adhering to treatment is a major problem among hypertensive patients. The purpose of the study was to assess the predisposing, enabling and reinforcing factors to medication adherence among hypertensive patients in Gweru urban aged 40-70 years. A descriptive cross sectional study was used with a sample size of 110 conveniently sampled hypertensive patients. We used an interviewer administered questionnaire designed using phase 4 of the PRECEDE model. The modal age was 70 years and mean age was 58 years (SD=10.29). There were 61.8% females and 38.2% males. Variables associated with medication adherence were: age (P=0.0059), marital status (P=0.015), average monthly income (P=0.0002), support group (P=0.027) and knowledge (P=0.0058). Providing information to patients with high blood pressure and having a good patient-provider relationship improves medication adherence. There is need to focus on the predisposing, enabling and reinforcing factors of medication adherence since demographic and socio-economic factors may be more difficult to change.

  16. Investigation of the Matrix Metalloproteinase-2 Gene in Patients with Non-Syndromic Mitral Valve Prolapse

    Directory of Open Access Journals (Sweden)

    Maëlle Perrocheau

    2015-07-01

    Full Text Available Non-syndromic mitral valve prolapse (MVP is a common degenerative valvulopathy, predisposing to arrhythmia and sudden death. The etiology of MVP is suspected to be under genetic control, as supported by familial cases and its manifestation in genetic syndrome (e.g., Marfan syndrome. One candidate etiological mechanism is a perturbation of the extracellular matrix (ECM remodeling of the valve. To test this hypothesis, we assessed the role of genetic variants in the matrix metalloproteinase 2 gene (MMP2 known to regulate the ECM turnover by direct degradation of proteins and for which transgenic mice develop MVP. Direct sequencing of exons of MMP2 in 47 unrelated patients and segregation analyses in families did not reveal any causative mutation. We studied eight common single nucleotide polymorphisms (TagSNPs, which summarize the genetic information at the MMP2 locus. The association study in two case controls sets (NCases = 1073 and NControls = 1635 provided suggestive evidence for the association of rs1556888 located downstream MMP2 with the risk of MVP, especially in patients with the fibroelastic defiency form. Our study does not support the contribution of MMP2 rare variation in the etiology to MVP in humans, though further genetic and molecular investigation is required to confirm our current suggestive association of one common variant.

  17. A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees

    NARCIS (Netherlands)

    McInnes, LA; Escamilla, MA; Service, SK; Reus, [No Value; Leon, P; Silva, S; Rojas, E; Spesny, M; Baharloo, S; Blankenship, K; Peterson, A; Tyler, D; Shimayoshi, N; Tobey, C; Batki, S; Vinogradov, S; Meza, L; Gallegos, A; Fournier, E; Smith, LB; Barondes, SH; Sandkuijl, LA; Freimer, NB

    1996-01-01

    Bipolar mood disorder (BP) is a debilitating syndrome characterized by episodes of mania and depression. We designed a multistage study to detect all major loci predisposing to severe BP (termed BP-I) in two pedigrees drawn from the Central Valley of Costa Rica, where the population is largely

  18. The PPARγ2 P12A polymorphism is not associated with all-cause mortality in patients with type 2 diabetes mellitus.

    Science.gov (United States)

    Pacilli, Antonio; Prudente, Sabrina; Copetti, Massimiliano; Fontana, Andrea; Mercuri, Luana; Bacci, Simonetta; Marucci, Antonella; Alberico, Federica; Viti, Raffaella; Palena, Antonio; Lamacchia, Olga; Cignarelli, Mauro; De Cosmo, Salvatore; Trischitta, Vincenzo

    2016-10-01

    The high mortality risk of patients with type 2 diabetes mellitus may well be explained by the several comorbidities and/or complications. Also the intrinsic genetic component predisposing to diabetes might have a role in shaping the risk of diabetes-related mortality. Among type 2 diabetes mellitus SNPs, rs1801282 is of particular interest because (i) it is harbored by peroxisome proliferator-activated receptor-γ2 (PPARγ2), which is the target for thiazolidinediones which are used as antidiabetic drugs, decreasing all-cause mortality in type 2 diabetes mellitus, and (ii) it is associated with insulin resistance and related traits, risk factors for overall mortality in type 2 diabetes mellitus. We investigated the role of PPARγ2 P12A, according to a dominant model (PA + AA vs. PP individuals) on incident all-cause mortality in three cohorts of type 2 diabetes mellitus, comprising a total of 1672 patients (462 deaths) and then performed a meta-analysis of ours and all available published data. In the three cohorts pooled and analyzed together, no association between PPARγ2 P12A and all-cause mortality was observed (HR 1.02, 95 % CI 0.79-1.33). Similar results were observed after adjusting for age, sex, smoking habits, and BMI (HR 1.09, 95 % CI 0.83-1.43). In a meta-analysis of ours and all studies previously published (n = 3241 individuals; 666 events), no association was observed between PPARγ2 P12A and all-cause mortality (HR 1.07, 95 % CI 0.85-1.33). Results from our individual samples as well as from our meta-analysis suggest that the PPARγ2 P12A does not significantly affect all-cause mortality in patients with type 2 diabetes mellitus.

  19. Pelvic incidence-lumbar lordosis mismatch predisposes to adjacent segment disease after lumbar spinal fusion.

    Science.gov (United States)

    Rothenfluh, Dominique A; Mueller, Daniel A; Rothenfluh, Esin; Min, Kan

    2015-06-01

    Several risk factors and causes of adjacent segment disease have been debated; however, no quantitative relationship to spino-pelvic parameters has been established so far. A retrospective case-control study was carried out to investigate spino-pelvic alignment in patients with adjacent segment disease compared to a control group. 45 patients (ASDis) were identified that underwent revision surgery for adjacent segment disease after on average 49 months (7-125), 39 patients were selected as control group (CTRL) similar in the distribution of the matching variables, such as age, gender, preoperative degenerative changes, and numbers of segments fused with a mean follow-up of 84 months (61-142) (total n = 84). Several radiographic parameters were measured on pre- and postoperative radiographs, including lumbar lordosis measured (LL), sacral slope, pelvic incidence (PI), and tilt. Significant differences between ASDis and CTRL groups on preoperative radiographs were seen for PI (60.9 ± 10.0° vs. 51.7 ± 10.4°, p = 0.001) and LL (48.1 ± 12.5° vs. 53.8 ± 10.8°, p = 0.012). Pelvic incidence was put into relation to lumbar lordosis by calculating the difference between pelvic incidence and lumbar lordosis (∆PILL = PI-LL, ASDis 12.5 ± 16.7° vs. CTRL 3.4 ± 12.1°, p = 0.001). A cutoff value of 9.8° was determined by logistic regression and ROC analysis and patients classified into a type A (∆PILL lordosis mismatch. In type A spino-pelvic alignment, 25.5 % of patients underwent revision surgery for adjacent segment disease, whereas 78.3 % of patients classified as type B alignment had revision surgery. Classification of patients into type A and B alignments yields a sensitivity for predicting adjacent segment disease of 71 %, a specificity of 81 % and an odds ratio of 10.6. In degenerative disease of the lumbar spine a high pelvic incidence with diminished lumbar lordosis seems to predispose to adjacent segment disease. Patients with such pelvic incidence

  20. JAK2V617F mutation in a patient with B-cell chronic lymphocytic leukemia and prefibrotic primary myelofibrosis

    Directory of Open Access Journals (Sweden)

    Ristić Slobodan

    2015-01-01

    Full Text Available Introduction. Secondary malignancies, particularly solid tumors, are common in patients with chronic lymphocytic leukemia (CLL, but association of myeloproliferative neoplasms and chronic lymphocytic leukemia in the same patient is very rare. Case Outline. We report of a 67-year-old man with B-cell chronic lymphoid leukemia (B-CLL who developed primary myelofibrosis (PMF nine years after initial diagnosis. Patient received alkylation agents and purine analogue, which can be a predisposing factor for the development of myeloproliferative neoplasms. JAK2V617F mutation was not present initially at the time of CLL diagnosis, but was found after nine years when PMF occurred, which indicates that B-CLL and PMF represent two separate clonal origin neoplasms. Conclusion. Pathogenic mechanisms for the development of myeloproliferative and lymphoproliferative neoplasms in the same patient are unknown. Further research is needed to determine whether these malignancies originate from two different cell clones or arise from the same pluripotent hematopoietic stem cell. [Projekat Ministarstva nauke Republike Srbije, br. III 41004

  1. [Prevalence and predisposing factors of methicillin-resistant Staphylococcus aureus in long-term care facilities. An international view].

    Science.gov (United States)

    Szabó, Rita

    2016-07-03

    Methicillin-resistant Staphylococcus aureus is one of the most important pathogens of healthcare and long-term care-associated infections over the world, resulting high morbidity, mortality and extra costs in these settings. The authors analyze the prevalence and predisposing factors of methicillin-resistant Staphylococcus aureus in long-term care facilities. Systematic review using PubMed, ScienceDirect and Cochrane Library CENTRAL databases between January 1, 2006 and December 31, 2015 was performed. In the past ten years methicillin-resistant Staphylococcus aureus prevalence in European long-term care facilities (12.6%) was lower than in North America (33.9%). The most frequent predisposing factor was previous antimicrobial therapy, hospital admission and infection/colonisation, chronic wounds, and high care need. Based on the results, the prevention and control of methicillin-resistant Staphylococcus aureus is an important public health priority in the European and Hungarian long-term care facilities.

  2. Factors Predisposing to Early Childhood Caries (ECC) in Children of Pre-School Age in the City of Zagreb, Croatia

    OpenAIRE

    Lulić-Dukić, O.; Jurić, H.; Dukić, W.; Glavina, D.

    2001-01-01

    The aim of this study was to investigate factors predisposing to early childhood caries (ECC) in pre-school children in the city of Zagreb, Croatia. The investigation was carried out on the sample of 145 children (77 boys and 68 girls) aged between 2 and 5 years, including clinical examination of dental status and survey on the habits among the parents. The overall prevalence of ECC was 30%: in girls it was 25%, and in boys 48%. The study on the risk factors was designed as a c...

  3. Maternal protein restriction induced-hypertension is associated to oxidative disruption at transcriptional and functional levels in the medulla oblongata.

    Science.gov (United States)

    de Brito Alves, José L; de Oliveira, Jéssica M D; Ferreira, Diorginis J S; Barros, Monique A de V; Nogueira, Viviane O; Alves, Débora S; Vidal, Hubert; Leandro, Carol G; Lagranha, Cláudia J; Pirola, Luciano; da Costa-Silva, João H

    2016-12-01

    Maternal protein restriction during pregnancy and lactation predisposes the adult offspring to sympathetic overactivity and arterial hypertension. Although the underlying mechanisms are poorly understood, dysregulation of the oxidative balance has been proposed as a putative trigger of neural-induced hypertension. The aim of the study was to evaluate the association between the oxidative status at transcriptional and functional levels in the medulla oblongata and maternal protein restriction induced-hypertension. Wistar rat dams were fed a control (normal protein; 17% protein) or a low protein ((Lp); 8% protein) diet during pregnancy and lactation, and male offspring was studied at 90 days of age. Direct measurements of baseline arterial blood pressure (ABP) and heart rate (HR) were recorded in awakened offspring. In addition, quantitative RT-PCR was used to assess the mRNA expression of superoxide dismutase 1 (SOD1) and 2 (SOD2), catalase (CAT), glutathione peroxidase (GPx), Glutamatergic receptors (Grin1, Gria1 and Grm1) and GABA(A)-receptor-associated protein like 1 (Gabarapl1). Malondialdehyde (MDA) levels, CAT and SOD activities were examined in ventral and dorsal medulla. Lp rats exhibited higher ABP. The mRNA expression levels of SOD2, GPx and Gabarapl1 were down regulated in medullary tissue of Lp rats (Pmedulla. Taken together, our data suggest that maternal protein restriction induced-hypertension is associated with medullary oxidative dysfunction at transcriptional level and with impaired antioxidant capacity in the ventral medulla. © 2016 John Wiley & Sons Australia, Ltd.

  4. Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

    NARCIS (Netherlands)

    Su, Zhan; Gay, Laura J.; Strange, Amy; Palles, Claire; Band, Gavin; Whiteman, David C.; Lescai, Francesco; Langford, Cordelia; Nanji, Manoj; Edkins, Sarah; van der Winkel, Anouk; Levine, David; Sasieni, Peter; Bellenguez, Céline; Howarth, Kimberley; Freeman, Colin; Trudgill, Nigel; Tucker, Art T.; Pirinen, Matti; Peppelenbosch, Maikel P.; van der Laan, Luc J. W.; Kuipers, Ernst J.; Drenth, Joost P. H.; Peters, Wilbert H.; Reynolds, John V.; Kelleher, Dermot P.; McManus, Ross; Grabsch, Heike; Prenen, Hans; Bisschops, Raf; Krishnadath, Kausila; Siersema, Peter D.; van Baal, Jantine W. P. M.; Middleton, Mark; Petty, Russell; Gillies, Richard; Burch, Nicola; Bhandari, Pradeep; Paterson, Stuart; Edwards, Cathryn; Penman, Ian; Vaidya, Kishor; Ang, Yeng; Murray, Iain; Patel, Praful; Ye, Weimin; Mullins, Paul; Wu, Anna H.; Bird, Nigel C.; Dallal, Helen; Shaheen, Nicholas J.; Murray, Liam J.; Koss, Konrad; Bernstein, Leslie; Romero, Yvonne; Hardie, Laura J.; Zhang, Rui; Winter, Helen; Corley, Douglas A.; Panter, Simon; Risch, Harvey A.; Reid, Brian J.; Sargeant, Ian; Gammon, Marilie D.; Smart, Howard; Dhar, Anjan; McMurtry, Hugh; Ali, Haythem; Liu, Geoffrey; Casson, Alan G.; Chow, Wong-Ho; Rutter, Matt; Tawil, Ashref; Morris, Danielle; Nwokolo, Chuka; Isaacs, Peter; Rodgers, Colin; Ragunath, Krish; MacDonald, Chris; Haigh, Chris; Monk, David; Davies, Gareth; Wajed, Saj; Johnston, David; Gibbons, Michael; Cullen, Sue; Church, Nicholas; Langley, Ruth; Griffin, Michael; Alderson, Derek; Deloukas, Panos; Hunt, Sarah E.; Gray, Emma; Dronov, Serge; Potter, Simon C.; Tashakkori-Ghanbaria, Avazeh; Anderson, Mark; Brooks, Claire; Blackwell, Jenefer M.; Bramon, Elvira; Brown, Matthew A.; Casas, Juan P.; Corvin, Aiden; Duncanson, Audrey; Markus, Hugh S.; Mathew, Christopher G.; Palmer, Colin N. A.; Plomin, Robert; Rautanen, Anna; Sawcer, Stephen J.; Trembath, Richard C.; Viswanathan, Ananth C.; Wood, Nicholas; Trynka, Gosia; Wijmenga, Cisca; Cazier, Jean-Baptiste; Atherfold, Paul; Nicholson, Anna M.; Gellatly, Nichola L.; Glancy, Deborah; Cooper, Sheldon C.; Cunningham, David; Lind, Tore; Hapeshi, Julie; Ferry, David; Rathbone, Barrie; Brown, Julia; Love, Sharon; Attwood, Stephen; Macgregor, Stuart; Watson, Peter; Sanders, Scott; Ek, Weronica; Harrison, Rebecca F.; Moayyedi, Paul; de Caestecker, John; Barr, Hugh; Stupka, Elia; Vaughan, Thomas L.; Peltonen, Leena; Spencer, Chris C. A.; Tomlinson, Ian; Donnelly, Peter; Jankowski, Janusz A. Z.

    2012-01-01

    Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on

  5. [Social characteristics of patients in penitentiaries++].

    Science.gov (United States)

    Sannikov, A L; Kuznetsov, A A

    1998-01-01

    Three hundred and forty five convicted patients with tuberculosis underwent sociohygienic examinations. Among the examinees, the disease was first detected in 74.2% in a reformatory, in 25.8% in an investigating cell. The persons who fell ill with tuberculosis in places of confinement were mainly young, their ages ranged from 20 to 39 years. Only every 4 patients with tuberculosis are condemned for the first time, more than half the patients have over 3 convictions and every 5 patients have over 5 convictions. The most socially disadapted individuals fall ill with tuberculosis in the reformatory; among the examinees, 7.6% were homeless before conviction. The overwhelming majority of the convicts had no social contacts: 52.2% were never married. The study ascertained that in addition to the negative social environment, some criminogenic, personal, and behavioral factors of this contingent predispose to tuberculosis.

  6. A genome-wide association study of aging.

    Science.gov (United States)

    Walter, Stefan; Atzmon, Gil; Demerath, Ellen W; Garcia, Melissa E; Kaplan, Robert C; Kumari, Meena; Lunetta, Kathryn L; Milaneschi, Yuri; Tanaka, Toshiko; Tranah, Gregory J; Völker, Uwe; Yu, Lei; Arnold, Alice; Benjamin, Emelia J; Biffar, Reiner; Buchman, Aron S; Boerwinkle, Eric; Couper, David; De Jager, Philip L; Evans, Denis A; Harris, Tamara B; Hoffmann, Wolfgang; Hofman, Albert; Karasik, David; Kiel, Douglas P; Kocher, Thomas; Kuningas, Maris; Launer, Lenore J; Lohman, Kurt K; Lutsey, Pamela L; Mackenbach, Johan; Marciante, Kristin; Psaty, Bruce M; Reiman, Eric M; Rotter, Jerome I; Seshadri, Sudha; Shardell, Michelle D; Smith, Albert V; van Duijn, Cornelia; Walston, Jeremy; Zillikens, M Carola; Bandinelli, Stefania; Baumeister, Sebastian E; Bennett, David A; Ferrucci, Luigi; Gudnason, Vilmundur; Kivimaki, Mika; Liu, Yongmei; Murabito, Joanne M; Newman, Anne B; Tiemeier, Henning; Franceschini, Nora

    2011-11-01

    Human longevity and healthy aging show moderate heritability (20%-50%). We conducted a meta-analysis of genome-wide association studies from 9 studies from the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium for 2 outcomes: (1) all-cause mortality, and (2) survival free of major disease or death. No single nucleotide polymorphism (SNP) was a genome-wide significant predictor of either outcome (p < 5 × 10(-8)). We found 14 independent SNPs that predicted risk of death, and 8 SNPs that predicted event-free survival (p < 10(-5)). These SNPs are in or near genes that are highly expressed in the brain (HECW2, HIP1, BIN2, GRIA1), genes involved in neural development and function (KCNQ4, LMO4, GRIA1, NETO1) and autophagy (ATG4C), and genes that are associated with risk of various diseases including cancer and Alzheimer's disease. In addition to considerable overlap between the traits, pathway and network analysis corroborated these findings. These findings indicate that variation in genes involved in neurological processes may be an important factor in regulating aging free of major disease and achieving longevity. Copyright © 2011 Elsevier Inc. All rights reserved.

  7. Are Patients with Spontaneous CSF Otorrhea and Superior Canal Dehiscence Congenitally Predisposed to Their Disorders?

    Science.gov (United States)

    Stevens, Shawn M; Hock, Kiefer; Samy, Ravi N; Pensak, Myles L

    2018-04-01

    Objectives (1) Compare lateral skull base (LSB) height/thickness in patients with spontaneous cerebrospinal fluid otorrhea (CSF), superior canal dehiscence (SCD), acoustic neuromas (AN), and otosclerosis (OTO). (2) Perform correlations between age, body mass index (BMI), sex, and LSB height/thickness. Study Design Case series with chart review. Setting Tertiary referral center. Subjects and Methods Patients with CSF, SCD, AN, and OTO diagnosed from 2006 to 2016 were included if they had high-definition temporal bone computed tomography (CT) and absence of trauma, radiation, chronic ear disease, and/or congenital anomaly. CT-based measurements included LSB height/thickness and pneumatization rates overlaying the external auditory canal (EAC), tegmen tympani (TgT), perigeniculate region (PG), and internal auditory canal (IAC). LSB height/thickness, age, sex, and BMI were statistically correlated. In total, 256 patients and 493 ears (109 CSF, 115 SCD, 269 AN/OTO) were measured. Results Patients with CSF had significantly higher BMIs than the other groups ( P CSF and SCD had similar radiographic LSB phenotypes at most measured locations. Both groups exhibited a significantly lower LSB height compared to the AN and OTO groups (mean, 3.9-4.2 mm vs 4.9-5.6 mm; P CSF and SCD also demonstrated significantly lower pneumatization rates, as low as 17% to 23% overlaying the PG and IAC ( P CSF and SCD exhibit similar radiographic LSB phenotypes. Age, sex, and BMI do not significantly correlate with LSB height/thickness. These data support the theory that CSF and SCD arise via similar congenital pathoetiologic mechanisms.

  8. Predisposing factors to lateral ankle injury in male comrades marathon runners

    Directory of Open Access Journals (Sweden)

    J. Hiemstra

    2009-01-01

    Full Text Available Introduction: More than two million people experience ankle ligament traumaeach year in the United States. Half of these are severe ligament sprains, however verylittle is known about the factors that predispose individuals to these injuries. The purpose of this study, (which was conducted as an undergraduate research project,was to find a correlation between the characteristics of height, weight and limbdominance and lateral ankle ligament injuries. Method: A  retrospective study was conducted on 114 ultra distance runners whoparticipated in the 2006 Comrades Marathon. During race registration, the runners’ height and weight were measuredafter answering a questionnaire regarding their training. Results: 114 runners responded to the questionnaire. From this cohort, 38 (33.3% had sustained previous lateral ankle injuries. Of these 38 injuries, 47.4% of the injuries occurred on the runner’s dominant limb and 36.8% occurred on thenon-dominant side. 15.8% of the runners sustained previous ankle injuries to both ankles. There was a low negative correlation coefficient of 0.24 with regards to weight as a risk factor. This indicated that the power of the correlationwas 5.93%. The study demonstrates that there is no correlation between an increase in weight and an increase in theincidence of ankle injury. The correlation coefficient indicated a low correlation between an increase in height and the incidence of ankle injury. However, the power of the correlation at 18.37% makes inaccurate any attempt to predict the height at which a runner would be at most risk for lateral ankle injury. Conclusion: Height and weight are not risk factors predisposing subjects to lateral ankle injury. In addition, the studyillustrated that there was no effect of limb dominance on the incidence of lateral ankle injury.

  9. Primary immunodeficiencies predisposed to Epstein-Barr virus-driven haematological diseases.

    Science.gov (United States)

    Parvaneh, Nima; Filipovich, Alexandra H; Borkhardt, Arndt

    2013-09-01

    Epstein-Barr virus (EBV), a ubiquitous human herpesvirus, maintains lifelong subclinical persistent infections in humans. In the circulation, EBV primarily infects the B cells, and protective immunity is mediated by EBV-specific cytotoxic T cells (CTLs) and natural killer (NK) cells. However, EBV has been linked to several devastating diseases, such as haemophagocytic lymphohistiocytosis (HLH) and lymphoproliferative diseases in the immunocompromised host. Some types of primary immunodeficiencies (PIDs) are characterized by the development of EBV-associated complications as their predominant clinical feature. The study of such genetic diseases presents an ideal opportunity for a better understanding of the biology of the immune responses against EBV. Here, we summarize the range of PIDs that are predisposed to EBV-associated haematological diseases, describing their clinical picture and pathogenetic mechanisms. © 2013 John Wiley & Sons Ltd.

  10. Haemorheological Changes in African Breast Cancer Patients

    African Journals Online (AJOL)

    elearning

    complications, African patients with breast cancer may well be predisposed to thrombotic complications during illness. ... having breast cancer were studied. The patients were diagnosed by one of the authors from histological biopsy from the lump removed from the breast. None of ... statistics (Student's t-test for paired data.

  11. Evaluation of Clinical and Laboratory Data in Patients with Recurrent Infections and Suspected Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Hamid Ahanchian

    2014-09-01

    Full Text Available Background: Frequent infections is among the most frequent clinical dilemmas for primary care physicians. Immunodeficiency disorders are a heterogeneous group of illnesses that predispose patients to the recurrent infections, autoimmunity and malignancies. The aim of this study was to evaluate the clinical and laboratory data collected for the final diagnosis of patients referred with recurrent infections and suspected immunodeficiency to a local immunodeficiency clinic.   Methods: This epidemiological study was carried out between April 2010 and September 2012 at the Immunodeficiency Clinic of Mashhad. All patients with clinical manifestations of immunodeficiency who were referred to our clinic during this period of time were included in this study. 41 patients aged from 10 months to 51 years, were evaluated. Results: Forty one patients, aged between 10 months and 51 years were evaluated. Eleven patients had a primary immunodeficiency, four cases had a secondary immunodeficiency, in three patients an underlying structural disease were found, eight patients were predisposed to recurrent infections as a result of allergies and finally, fifteen cases were found to be normal individuals.   Discussion: Most patients with recurrent infection have a normal immune system. Allergic disorders are the most common predisposing factor to recurrent infection. However, as immunodeficiency disorders are potentially serious, early diagnosis can improve the quality of life and outcome and prevent severe sequels in future.

  12. Dog obesity--the need for identifying predisposing genetic markers.

    Science.gov (United States)

    Switonski, M; Mankowska, M

    2013-12-01

    Incidence of overweight and obesity in dogs exceeds 30%, and several breeds are predisposed to this heritable phenotype. Rapid progress of canine genomics and advanced knowledge on the genetic background of human obesity bring a unique opportunity to perform such studies in dogs. Natural candidate genes for obesity are these encoding adipokines. Extended studies in humans indicated that polymorphisms of three of them, i.e. ADIPOQ, IL1 and TNF, are associated with predisposition to obesity. On the other hand, the use of genome-wide association studies revealed an association between human obesity and polymorphism of more than 50 other genes. Until now only few preliminary reports on polymorphism of canine FTO, MC4R, MC3R and PPARG genes have been published. Since the dog is a valuable model organism for human diseases one can foresee that such studies may also contribute to an in-depth understanding of human obesity pathogenesis. Copyright © 2013 Elsevier Ltd. All rights reserved.

  13. Neglected rupture of the quadriceps tendon in a patient with chronic ...

    African Journals Online (AJOL)

    Neglected rupture of the quadriceps tendon in a patient with chronic renal failure ... in patients with predisposing diseases such as gout, rheumatoid arthritis and ... disease and received regular hemodialysis treatment for more than 5 years.

  14. Relevance of weight in the management of patients with type 2 diabetes mellitus: towards an adipocentric approach to diabetes.

    Science.gov (United States)

    Gorgojo Martínez, Juan José

    2016-11-01

    In recent decades, there has been a worldwide parallel increase in the prevalence of obesity and type 2 diabetes mellitus (T2DM), which is not surprising, given that increased visceral fat is the main risk factor for the development of T2DM in genetically predisposed individuals. An intervention focused on intensive blood glucose control in T2DM with classic drugs increases the risk of weight gain and the rate of hypoglycaemia. In contrast, weight loss through lifestyle changes, drugs and/or surgery simultaneously improves most cardiovascular (CV) risk factors, including hyperglycemia. Intensive intervention on lifestyle induces an overall benefit in patients with T2DM, but long-term weight loss is modest and has not been shown to reduce CV morbidity and mortality. The emergence of new therapeutic classes for T2DM and obesity, which simultaneously improve HbA1c, weight and other CV risk factors without inducing hypoglycaemia, represents a major change in the management of patients with diabesity. A sodium-glucose cotransporter-2 inhibitor and a GLP-1 receptor agonist have recently been shown to decrease CV and total mortality in type 2 diabetic patients with CV disease. Furthermore, bariatric surgery rapidly induces remission or improvement of T2DM in a large percentage of patients and reduces diabetes-related mortality. The emergence of new therapies raises the possibility of changing the current glucose-centred therapeutic strategy for a weight-centred approach. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  15. Dysphagia lusoria - report of 2 cases and a review of the literature ...

    African Journals Online (AJOL)

    Aberrant subclavian artery is the most frequent aortic arch anomaly and occurs in 0.5% of normal individuals.1,2 The majority of people with this anomaly are asymptomatic and nothing needs to be done. However, cervicomediastinal surgery for unrelated conditions predisposes patients to potential morbidity and even fatal ...

  16. Tumor-mimicking large vegetation attached to the tricuspid valve without predisposing factors: A case report on CT and echocardiographic findings

    Energy Technology Data Exchange (ETDEWEB)

    Bae, Jung Min; Choe, Yeon Hyeon; Hwang, Hye Won; Kim, Jung Sun; Kim, Wook Sung; Peck, Kyong Ran; Park, Sung Ji [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2015-10-15

    We report the CT and echocardiographic findings of a tumor-mimicking large vegetation attached to the tricuspid valve (TV) of a 45-year-old man without predisposing factors. Echocardiography revealed a mobile homogeneous echogenic mass attached to the TV. Cardiac CT showed a 4.5 × 2.3 cm irregular low-density mass with scant enhancement in the right ventricle. Based on clinical findings of fever, positive blood culture results for Streptococcus viridans, and pathologic confirmation of the lesion, a diagnosis of infective endocarditis and vegetation was made.

  17. Tumor-mimicking large vegetation attached to the tricuspid valve without predisposing factors: A case report on CT and echocardiographic findings

    International Nuclear Information System (INIS)

    Bae, Jung Min; Choe, Yeon Hyeon; Hwang, Hye Won; Kim, Jung Sun; Kim, Wook Sung; Peck, Kyong Ran; Park, Sung Ji

    2015-01-01

    We report the CT and echocardiographic findings of a tumor-mimicking large vegetation attached to the tricuspid valve (TV) of a 45-year-old man without predisposing factors. Echocardiography revealed a mobile homogeneous echogenic mass attached to the TV. Cardiac CT showed a 4.5 × 2.3 cm irregular low-density mass with scant enhancement in the right ventricle. Based on clinical findings of fever, positive blood culture results for Streptococcus viridans, and pathologic confirmation of the lesion, a diagnosis of infective endocarditis and vegetation was made

  18. Maternal air pollution exposure induces fetal neuroinflammation and predisposes offspring to obesity in aduthood in a sex-specific manner

    Science.gov (United States)

    Emerging evidence suggests environmental chemical exposures during critical windows of development may contribute to the escalating prevalence of obesity. We tested the hypothesis that prenatal air pollution exposure would predispose the offspring to weight gain in adulthood. Pre...

  19. Gallstone disease and type-2 diabetes mellitus-the link

    International Nuclear Information System (INIS)

    Olokoba, A.B.; Bojuwoye, B.J.; Olokoba, K.B.; Braimoh, K.T.; Inikori, A.K.

    2007-01-01

    To determine the factors predisposing patients with type-2 diabetes mellitus to gallstone disease. One hundred type 2 diabetic patients and 100 age and gender-matched controls underwent real time ultrasonography to study factors predisposing patients with type 2 diabetes mellitus to gallstone disease. The age, gender, body mass index (BMI), duration of diabetes mellitus and serum lipids were determined in the individuals enrolled for the study. Fifteen percent of the diabetic patients had ultrasound evidence of gallstone disease as compared to 7% in non-diabetic controls. There was a steady increase in the incidence of gallstone disease in diabetic patients with age with a peak incidence in the seventh decade i.e. 60-69 years, and a decline in the eighth decade i.e. 70 - 79 years. The average age of the diabetic patients with gallstone disease - 59.1+ 9.5 years was significantly higher than in those without gallstone disease - 51.8 + 10.5 years (p 0.014). The mean duration of disease in the diabetic patients with gallstone disease was 5.0 + 4.9 years compared with 4.5 + 3.8 years in the diabetic patients without gallstone disease (p=0.772). The mean serum cholesterol and triglyceride levels - 4.3 + 1.3 mmol/L and 1.5 + 0.8 mmol/L respectively in the diabetic patients with gallstone disease was higher than in those without gallstone disease - 3.4 + 0.5 mmol/L (p=0.0941) and 1.4 + 0.7 mmol/L (p=0.712) respectively. The mean body mass index for the diabetic patients with gallstone disease was 26.2 + 5.5 kg /m 2 compared with 25.7 + 6.7 kg/m2 in those without gallstone disease (p=0.755) . Increasing age is a risk factor for gallstone disease in diabetic patients. Hyperlipidaemia, female gender, heavier weight and a longer duration of diabetes mellitus appear to be associated risk factors. (author)

  20. Low Plasma Volume in Normotensive Formerly Preeclamptic Women Predisposes to Hypertension.

    Science.gov (United States)

    Scholten, Ralph R; Lotgering, Fred K; Hopman, Maria T; Van Dijk, Arie; Van de Vlugt, Maureen; Janssen, Mirian C H; Spaanderman, Marc E A

    2015-11-01

    Formerly preeclamptic women are at risk for cardiovascular disease. Low plasma volume may reflect latent hypertension and potentially links preeclampsia with chronic cardiovascular disease. We hypothesized that low plasma volume in normotensive formerly preeclamptic women predisposes to hypertension. We longitudinally studied n=104 formerly preeclamptic women in whom plasma volume was measured 3 to 30 months after the preeclamptic pregnancy. Cardiovascular variables were assessed at 2 points in time (3-30 months postpartum and 2-5 years thereafter). Study population was divided into low plasma volume (≤1373 mL/m(2)) and normal plasma volume (>1373 mL/m(2)). Primary end point was hypertension at the second visit: defined as ≥140 mm Hg systolic or ≥90 mm Hg diastolic. Secondary outcome of this study was change in traditional cardiovascular risk profile between visits. Variables correlating univariately with change in blood pressure between visits were introduced in regression analysis. Eighteen of 104 (17%) formerly preeclamptic women who were normotensive at first visit had hypertension at second evaluation 2 to 5 years later. Hypertension developed more often in women with low plasma volume (10/35 [29%]) than in women with normal plasma volume (8/69 [12%]; odds ratio, 3.2; 95% confidence interval, 1.4-8.6). After adjustments, relationship between plasma volume status and subsequent hypertension persisted (adjusted odds ratio, 3.0; 95% confidence interval, 1.1-8.5). Mean arterial pressure at second visit correlated inverse linearly with plasma volume (r=-0.49; Phypertension within 5 years. Women with low plasma volume have higher chance to develop hypertension than women with normal plasma volume. Clinically, follow-up of blood pressure seems warranted in women with history of preeclampsia, even when initially normotensive. © 2015 American Heart Association, Inc.

  1. External beam irradiation for choroid metastases: identification of factors predisposing to long-term sequelae

    International Nuclear Information System (INIS)

    Rudoler, Shari B.; Corn, Benjamin W.; Shields, Carol L.; De Potter, Patrick; Hyslop, Terry; Shields, Jerry A.; Curran, Walter J.

    1997-01-01

    Purpose: To improve overall quality of life, palliative treatments should attempt to minimize associated complications while effectively controlling specific symptoms. We reviewed our experience treating posterior uveal metastases with external beam radiotherapy (EBRT) to determine the complication rate and to identify the relationship between patient, tumor, or treatment-related factors and the development of ocular complications. Methods and Materials: 483 consecutive patients (pts) (578 eyes) were diagnosed with intraocular metastatic disease from solid tumors between 1972-1995. Of these, 233 eyes (188 pts) had lesions of the posterior uveal tract and received EBRT. Median follow-up time was 5.8 months (range: 0.7-170.0 months). Follow-up information regarding the development of complications was documented for 230 eyes. Complete EBRT details were available for 189 eyes. Seventy-two percent of the patients received 30.0-40.0 Gy in 2.0-3.0 Gy fractions. Biologically effective dose (BED) was calculated to allow meaningful comparisons between various fractionation regimens and total doses. Concurrent chemotherapy and/or hormonal therapy was used for 101 eyes (44%). Results: Median BED was 61 Gy 3 (range, 6.7-105 Gy 3 ), and 80% of treated eyes received BED 50-70 Gy 3 . EBRT energies included photons (70%), 60 Co (19%), electrons (6%), mixed energies (3%), and orthovoltage (2%). Lens-sparing techniques were used in 136 eyes (71%). At last follow-up 28 eyes (12%) developed one or more significant complications, including cataracts (16 eyes), radiation retinopathy (6 eyes), optic neuropathy (5 eyes), exposure keratopathy (5 eyes), and neovascularization of the iris (4 eyes). Two eyes developed narrow-angle glaucoma, and one of these required enucleation. On univariate analysis, Caucasian race (vs. Black/Hispanic, p = 0.03), increased intraocular pressure at diagnosis (>21 mmHg, p = 0.02), and diagnosis by biopsy (vs. no biopsy, p = 0.03) predisposed toward the

  2. Phenomenology and predisposing factors of morbid jealousy in a psychiatric outdoor: a cross-sectional, descriptive study

    Directory of Open Access Journals (Sweden)

    Satyajeet Kumar Singh

    2017-06-01

    Full Text Available Background: Jealousy in a sexual relation has some advantage that it ensures propagation of one’s own gene as put by evolutionary psychologists. However, if this belief is based on unfounded evidence it may impair the relationship between partners and may be extremely distressful. Morbid jealousy may present as obsession, overvalued idea, or delusion as one of the symptoms in different psychiatric disorders. Aim: The aim of the study was to find the frequency of patients with morbid jealousy presenting in the Department of Psychiatry of Patna Medical College and Hospital (PMCH, the psychiatric diagnoses of such patients, frequency of different forms of morbid jealousy (obsession, overvalued idea, and delusion. Also, to assess predisposing or triggering factors for jealousy and to assess for suicidality in such patients and their partners. Materials and methods: All patients attending the Department of Psychiatry, PMCH were administered a screening questionnaire and if they qualified they were further administered the operational criteria for morbid jealousy. The psychiatric diagnosis was confirmed with the tenth revision of the International Statistical Classification of Diseases and Related Health Problems: Diagnostic Criteria for Research (ICD-10: DCR. Each patient was then administered a rating scale to quantify the psychopathology. Results: Out of 970 patients who attended outpatient department, 658 patients were administered the screening questionnaire, 174 qualified who were later assessed with the operational criteria for morbid jealousy. Fifty patients who fulfilled the criteria were assessed. The mean age of presentation for both sexes were 36.44 year (SD=13.12 years. Morbid jealousy was found to be twice as common in males as compared in females. Highest prevalence was found among participants who had higher secondary education, belonged to middle socioeconomic status, and having psychiatric diagnosis of schizophrenia followed by

  3. The effect of normal childbirth on eyes with abnormalities predisposing to rhegmatogenous retinal detachment.

    Science.gov (United States)

    Landau, D; Seelenfreund, M H; Tadmor, O; Silverstone, B Z; Diamant, Y

    1995-09-01

    Pregnant women who have high myopia, a history of retinal detachment or retinal holes, or have known lattice degeneration are frequently referred to an ophthalmologist for advice concerning the management of pregnancy and labor, i.e. whether a spontaneous vaginal delivery can be allowed and whether prophylaxis for high-risk retinal pathology is indicated. Many obstetricians still believe that pregnant women with ocular abnormalities predisposing to rhegmatogenous retinal detachment should have an instrumental delivery, and a few even advocate cesarian section. Very little has been written about the management of pregnant women with high-risk retinal pathology, and opinions differ considerably. Patient data on this subject are scarce. We studied 10 women who had 19 deliveries (10 prospective and 9 retrospective) and who had a history of retinal detachment, had been diagnosed as having extensive lattice degeneration, or had been treated for symptomatic retinal holes or breaks. The women were followed from the third trimester of pregnancy through labor and delivery into the postpartum period, looking for changes in the retinal status. We found no changes in the retinal status in the postpartum examination. We conclude that prenatal treatment of asymptomatic retinal pathology is not indicated and that spontaneous vaginal delivery may be allowed to take place in women with high-risk retinal pathology.

  4. High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

    Science.gov (United States)

    Pasquet, Marlène; Bellanné-Chantelot, Christine; Tavitian, Suzanne; Prade, Naïs; Beaupain, Blandine; Larochelle, Olivier; Petit, Arnaud; Rohrlich, Pierre; Ferrand, Christophe; Van Den Neste, Eric; Poirel, Hélène A; Lamy, Thierry; Ouachée-Chardin, Marie; Mansat-De Mas, Véronique; Corre, Jill; Récher, Christian; Plat, Geneviève; Bachelerie, Françoise; Donadieu, Jean; Delabesse, Eric

    2013-01-31

    Congenital neutropenia is a group of genetic disorders that involve chronic neutropenia and susceptibility to infections. These neutropenias may be isolated or associated with immunologic defects or extra-hematopoietic manifestations. Complications may occur as infectious diseases, but also less frequently as myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Recently, the transcription factor GATA2 has been identified as a new predisposing gene for familial AML/MDS. In the present study, we describe the initial identification by exome sequencing of a GATA2 R396Q mutation in a family with a history of chronic mild neutropenia evolving to AML and/or MDS. The subsequent analysis of the French Severe Chronic Neutropenia Registry allowed the identification of 6 additional pedigrees and 10 patients with 6 different and not previously reportedGATA2 mutations (R204X, E224X, R330X, A372T, M388V, and a complete deletion of the GATA2 locus). The frequent evolution to MDS and AML in these patients reveals the importance of screening GATA2 in chronic neutropenia associated with monocytopenia because of the frequent hematopoietic transformation, variable clinical expression at onset, and the need for aggressive therapy in patients with poor clinical outcome. Mutations of key transcription factor in myeloid malignancies.

  5. Induced resistance in tomato by SAR activators during predisposing salinity stress

    Directory of Open Access Journals (Sweden)

    Matthew Francis Pye

    2013-05-01

    Full Text Available Plant activators are chemicals that induce disease resistance. The phytohormone salicylic acid (SA is a crucial signal for systemic acquired resistance (SAR, and SA-mediated resistance is a target of several commercial plant activators, including Actigard (1,2,3-benzothiadiazole-7-thiocarboxylic acid-s-methyl-ester, BTH and Tiadinil (N-(3-chloro-4-methylphenyl-4-methyl-1,2,3-thiadiazole-5-carboxamide, TDL. BTH and TDL were examined for their impact on abscisic acid (ABA-mediated, salt-induced disease predisposition in tomato seedlings. A brief episode of salt stress to roots significantly increased the severity of disease caused by Pseudomonas syringae pv. tomato (Pst and Phytophthora capsici relative to non-stressed plants. Root treatment with TDL induced resistance to Pst in leaves and provided protection in both non-stressed and salt-stressed seedlings in WT and highly susceptible NahG plants. Non-stressed and salt-stressed ABA-deficient sitiens mutants were highly resistant to Pst. Neither TDL nor BTH induced resistance to root infection by P. capsici, nor did they moderate the salt-induced increment in disease severity. Root treatment with these plant activators increased the levels of ABA in roots and shoots similar to levels observed in salt-stressed plants. The results indicate that SAR activators can protect tomato plants from bacterial speck disease under predisposing salt stress, and suggest that some SA-mediated defense responses function sufficiently in plants with elevated levels of ABA.

  6. Salivary antioxidants in patients with type 1 or 2 diabetes and inflammatory periodontal disease: a case-control study.

    Science.gov (United States)

    Gümüş, Pinar; Buduneli, Nurcan; Cetinkalp, Sevki; Hawkins, Samuel I; Renaud, Diane; Kinane, Denis F; Scott, David A

    2009-09-01

    The purpose of this study was to evaluate and compare salivary concentrations of reduced, oxidized glutathione, uric acid, ascorbic acid, and total antioxidant capacity in subjects with diabetes and systemically healthy subjects with inflammatory periodontal disease. Sixteen patients with type 1 diabetes mellitus (DM), 25 patients with type 2 DM, and 24 systemically healthy patients, all with inflammatory periodontal disease, were recruited. Whole-saliva samples were obtained, and full-mouth clinical periodontal measurements, including plaque index, probing depth, gingival recession, clinical attachment level, and bleeding on probing, were recorded at six sites per tooth. Saliva flow rate and salivary levels of reduced and oxidized glutathione, vitamin C, uric acid, and total antioxidant capacity were determined. Data were analyzed statistically by non-parametric tests. The subjects with type 2 DM had fewer teeth and more sites with probing depths >4 mm than the patients with type 1 DM (both P salivary reduced-glutathione concentration was lower in patients with type 1 DM than in the other two groups (both P salivary concentrations of the other antioxidants measured were found among the groups (P >0.05). Oxidized glutathione levels in the patients with type 1 DM were significantly lower than in the systemically healthy group (P = 0.007). In both groups with diabetes, salivary reduced-glutathione levels correlated positively with probing depth, and total antioxidant capacity correlated with salivary flow rate (P salivary reduced-glutathione levels in patients with type 1 DM may have a role in periodontal tissue destruction by predisposing tissues to oxidative stress.

  7. Candiduria in hospitalized patients in teaching hospitals of Ahvaz.

    Science.gov (United States)

    Zarei-Mahmoudabadi, A; Zarrin, M; Ghanatir, F; Vazirianzadeh, B

    2012-12-01

    Nosocomial infections are usually acquired during hospitalization. Fungal infection of the urinary tract is increasing due to predisposing factors such as; antibacterial agents, indwelling urinary catheters, diabetes mellitus, long hospitalization, immunosuppressive agents, use of IV catheters, radiation therapy, malignancy. The aim of our study was to determine the prevalence of candiduria and urinary tract infection in patients admitted in Golestan and Emam Khomeini hospitals of Ahvaz, Iran. During 14 months, a total of 744 urine samples were collected and transferred to medical mycology laboratory immediately. Ten µl of uncentrifuged sample was cultured on CHROM agar Candida plates and incubated at 37°C for 24-48h aerobically. Candida species were identified based on colony morphology on CHROM agar Candida, germ tube production and micro-morphology on corn meal agar including 1% Tween 80. In the present study, 744 hospitalized patients were sampled (49.5%, female; 50.5%, male). The prevalence of candiduria in subjects was 16.5% that included 65.1% female and 34.9% male. The most common isolates were C. albicans (53.3%), followed by C. glabrata (24.4%), C. tropicalis (3.7%), C. krusei (2.2%), and Geotrichum spp. (0.7%) Urine cultures yielded more than 10,000 yeast colonies in 34.1% of cases, and the major predisposing factor associated with candiduria was antibiotic therapy (69.1%). Candiduria is relatively common in hospitalized patients in educational hospitals of Ahvaz. In addition, there is a strong correlation between the incidence of candiduria in hospitalized patients and broad-spectrum antibiotics therapy.

  8. Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer

    Directory of Open Access Journals (Sweden)

    Giovana T. Torrezan

    2018-05-01

    Full Text Available Pathogenic variants in known breast cancer (BC predisposing genes explain only about 30% of Hereditary Breast Cancer (HBC cases, whereas the underlying genetic factors for most families remain unknown. Here, we used whole-exome sequencing (WES to identify genetic variants associated to HBC in 17 patients of Brazil with familial BC and negative for causal variants in major BC risk genes (BRCA1/2, TP53, and CHEK2 c.1100delC. First, we searched for rare variants in 27 known HBC genes and identified two patients harboring truncating pathogenic variants in ATM and BARD1. For the remaining 15 negative patients, we found a substantial vast number of rare genetic variants. Thus, for selecting the most promising variants we used functional-based variant prioritization, followed by NGS validation, analysis in a control group, cosegregation analysis in one family and comparison with previous WES studies, shrinking our list to 23 novel BC candidate genes, which were evaluated in an independent cohort of 42 high-risk BC patients. Rare and possibly damaging variants were identified in 12 candidate genes in this cohort, including variants in DNA repair genes (ERCC1 and SXL4 and other cancer-related genes (NOTCH2, ERBB2, MST1R, and RAF1. Overall, this is the first WES study applied for identifying novel genes associated to HBC in Brazilian patients, in which we provide a set of putative BC predisposing genes. We also underpin the value of using WES for assessing the complex landscape of HBC susceptibility, especially in less characterized populations.

  9. Examining the Diet of Post-Migrant Hispanic Males Using the Precede-Proceed Model: Predisposing, Reinforcing, and Enabling Dietary Factors

    Science.gov (United States)

    Castellanos, Diana Cuy; Downey, Laura; Graham-Kresge, Susan; Yadrick, Kathleen; Zoellner, Jamie; Connell, Carol L.

    2013-01-01

    Objective: To examine socio-environmental, behavioral, and predisposing, reinforcing, and enabling (PRE) factors contributing to post-migration dietary behavior change among a sample of traditional Hispanic males. Design: In this descriptive study, semistructured interviews, a group interview, and photovoice, followed by group interviews, were…

  10. Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

    DEFF Research Database (Denmark)

    Petersen, Sanne M; Dandanell, Mette; Rasmussen, Lene J

    2013-01-01

    Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include disease-causing frame-shift, nonsense, and splicing mutations as well as large genomi...

  11. Dermatomycosis in lower limbs of diabetic patients followed by podiatry consultation.

    Science.gov (United States)

    Parada, Helena; Veríssimo, Cristina; Brandão, João; Nunes, Baltazar; Boavida, José; Duarte, Rui; Peerally, Zulmira; Oliveira, Rui; Rosado, Laura; Sabino, Raquel

    2013-01-01

    Diabetic patients are particularly susceptible to fungal infections due to modifications that occur in their immunological system. These modifications compromise natural defences, such as skin and nails, especially from lower limbs. Assessing the presence of dermatomycosis in lower limbs of Portuguese diabetic patients followed on Podiatry consultation. Determination of possible predisposing factors and the most frequent fungal species associated with the cases are included in the study. A six-month prospective study was carried out in 163 diabetic patients with signs and symptoms of dermatomycosis followed by Podiatry at the Portuguese Diabetes Association in Lisbon. Samples from the skin and/or nails of the lower limbs were collected and demographic and clinical data of those patients were recorded. Trichophyton rubrum was the most frequently isolated dermatophyte (12.1%), followed by Trichophyton mentagrophytes (7.7%) and Trichophyton tonsurans (4.4%). Our study showed positive associations between type 2 diabetes and the presence of dermatomycosis in the studied population (p=0.013); this association was also shown between the occurrence of dermatomycosis and the localization of the body lesion (p=0.000). No other predisposing factor tested was positively associated with infection (p>0.05). Data on superficial fungal infections in diabetic patients are scarce in Portugal. This study provides information on the characterization of dermatomycosis in lower limbs of diabetic patients. Copyright © 2012 Revista Iberoamericana de Micología. Published by Elsevier Espana. All rights reserved.

  12. Predisposing factors for colonic torsion/volvulus in dogs: a retrospective study of six cases (1992-2010).

    Science.gov (United States)

    Gagnon, Dominique; Brisson, Brigitte

    2013-01-01

    The purposes of this retrospective study were to review cases of colonic torsion/volvulus between July 1992 and August 2010 and to determine if any predisposing factors exist for the development of this condition. Six dogs were diagnosed with colonic torsion/volvulus during the study period. Four dogs had a history of previous gastric dilation-volvulus (GDV) with prophylactic gastropexy. Three of six dogs diagnosed with colonic torsion/volvulus had large intestinal entrapment and strangulation around the gastropexy site at the time of surgery. The history, clinical signs, physical examination, and radiologic findings were not specific for colonic torsion/volvulus in any dog. Early exploratory laparotomy was indicated to confirm the diagnosis and perform surgical correction of the affected bowel segments. Three of five dogs that underwent surgery had a left abdominal wall colopexy performed. All five dogs that underwent surgery in this study survived postoperatively. One patient was euthanized without surgical intervention. Results suggest that colonic torsion/volvulus should be considered in any large-breed dog with nonspecific gastrointestinal clinical signs and a history of previous gastropexy. Early recognition and prompt treatment of this condition may result in a good outcome.

  13. High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma.

    Science.gov (United States)

    Romania, Paolo; Castellano, Aurora; Surace, Cecilia; Citti, Arianna; De Ioris, Maria Antonietta; Sirleto, Pietro; De Mariano, Marilena; Longo, Luca; Boldrini, Renata; Angioni, Adriano; Locatelli, Franco; Fruci, Doriana

    2013-01-01

    Neuroblastoma (NB), the most common solid cancer in early childhood, usually occurs sporadically but also its familial occurance is known in 1-2% of NB patients. Germline mutations in the ALK and PHOX2B genes have been found in a subset of familial NBs. However, because some individuals harbouring mutations in these genes do not develop this tumor, additional genetic alterations appear to be required for NB pathogenesis. Herein, we studied an Italian family with three NB patients, two siblings and a first cousin, carrying an ALK germline-activating mutation R1192P, that was inherited from their unaffected mothers and with no mutations in the PHOX2B gene. A comparison between somatic and germline DNA copy number changes in the two affected siblings by a high resolution array-based Comparative Genomic Hybridization (CGH) analysis revealed a germline gain at NKAIN2 (Na/K transporting ATPase interacting 2) locus in one of the sibling, that was inherited from the parent who does not carry the ALK mutation. Surprisingly, NKAIN2 was expressed at high levels also in the affected sibling that lacks the genomic gain at this locus, clearly suggesting the existance of other regulatory mechanisms. High levels of NKAIN2 were detected in the MYCN-amplified NB cell lines and in the most aggressive NB lesions as well as in the peripheral blood of a large cohort of NB patients. Consistent with a role of NKAIN2 in NB development, NKAIN2 was down-regulated during all-trans retinoic acid differentiation in two NB cell lines. Taken together, these data indicate a potential role of NKAIN2 gene in NB growth and differentiation.

  14. High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2 as a predisposing candidate gene in neuroblastoma.

    Directory of Open Access Journals (Sweden)

    Paolo Romania

    Full Text Available Neuroblastoma (NB, the most common solid cancer in early childhood, usually occurs sporadically but also its familial occurance is known in 1-2% of NB patients. Germline mutations in the ALK and PHOX2B genes have been found in a subset of familial NBs. However, because some individuals harbouring mutations in these genes do not develop this tumor, additional genetic alterations appear to be required for NB pathogenesis. Herein, we studied an Italian family with three NB patients, two siblings and a first cousin, carrying an ALK germline-activating mutation R1192P, that was inherited from their unaffected mothers and with no mutations in the PHOX2B gene. A comparison between somatic and germline DNA copy number changes in the two affected siblings by a high resolution array-based Comparative Genomic Hybridization (CGH analysis revealed a germline gain at NKAIN2 (Na/K transporting ATPase interacting 2 locus in one of the sibling, that was inherited from the parent who does not carry the ALK mutation. Surprisingly, NKAIN2 was expressed at high levels also in the affected sibling that lacks the genomic gain at this locus, clearly suggesting the existance of other regulatory mechanisms. High levels of NKAIN2 were detected in the MYCN-amplified NB cell lines and in the most aggressive NB lesions as well as in the peripheral blood of a large cohort of NB patients. Consistent with a role of NKAIN2 in NB development, NKAIN2 was down-regulated during all-trans retinoic acid differentiation in two NB cell lines. Taken together, these data indicate a potential role of NKAIN2 gene in NB growth and differentiation.

  15. Mannose-binding lectin and l-ficolin polymorphisms in patients with community-acquired pneumonia caused by intracellular pathogens.

    Science.gov (United States)

    van Kempen, Gijs; Meijvis, Sabine; Endeman, Henrik; Vlaminckx, Bart; Meek, Bob; de Jong, Ben; Rijkers, Ger; Bos, Willem Jan

    2017-05-01

    Community-acquired pneumonia (CAP) is the leading infectious disease requiring hospitalization in the western world. Genetic variability affecting the host response to infection may play a role in susceptibility and outcome in patients with CAP. Mannose-binding lectin (MBL) and l-ficolin (l-FCN) are two important activators of the complement system and they can enhance phagocytosis by opsonization. In a prospective cohort of 505 Dutch patients with CAP and 227 control participants we studied whether polymorphisms in the MBL (MBL2) and FCN (FCN2) genes influenced susceptibility and outcome. No difference in frequency of these genotypes was found between patients with CAP in general and controls. However, the +6424G>T single nucleotide polymorphism (SNP) in FCN2 was more common in patients with a Coxiella burnetii pneumonia (P = 0·014). Moreover, the haplotypes coding for the highest MBL serum levels (YA/YA and YA/XA) predisposed to atypical pneumonia (C. burnetii, Legionella or Chlamydia species or Mycoplasma pneumoniae) compared with controls (P = 0·016). Furthermore, patients with these haplotypes were more often bacteraemic (P = 0·019). It can therefore be concluded that MBL2 and FCN2 polymorphisms are not major risk factors for CAP in general, but that the +6424G>T SNP in the FCN2 gene predisposes to C. burnetii pneumonia. In addition, patients with genotypes corresponding with high serum MBL levels are at risk for atypical pneumonia, possibly caused by enhanced phagocytosis, thereby promoting cell entry of these intracellular bacteria. © 2016 The Authors. Immunology Published by John Wiley & Sons Ltd.

  16. Subclinical Mastitis in Dairy Animals: Incidence, Economics, and Predisposing Factors

    Directory of Open Access Journals (Sweden)

    Mukesh Kr. Sinha

    2014-01-01

    Full Text Available A study was conducted to assess the incidence and economics of subclinical form of bovine mastitis in Central Region of India. Daily milk records of 187 animals during three seasons were collected and subjected to analysis. The economic loss due to reduction in yield, clinical expenses, and additional resources used were quantified and aggregated. The losses due to mastitis in monetary terms were estimated to be INR1390 per lactation, among which around 49% was owing to loss of value from milk and 37% on account of veterinary expenses. Higher losses were observed in crossbred cows due to their high production potential that was affected during mastitis period. The cost of treating an animal was estimated to be INR509 which includes cost of medicine (31.10% and services (5.47%. Inadequate sanitation, hygiene, and veterinary services were the main predisposing factors for incidence and spread of mastitis as perceived by the respondents.

  17. Allogeneic split-skin grafting in stem cell transplanted patients

    DEFF Research Database (Denmark)

    Olsen, Jan Kyrre Berg; Vindeløv, Lars; Schmidt, G.

    2008-01-01

    donor chimaerism will not recognise skin from the stem cell donor as foreign. Due to advances in haematology, the number of BMT patients and their long-term survival is expected to increase. cGvHD, predisposing to skin problems and ulcerations, complicates up to 70% of cases of BMT. In BMT patients...

  18. Metastatic Colon Cancer in an 18-Year-Old without Predisposing Factors

    Directory of Open Access Journals (Sweden)

    Divya Mirchandani

    2016-01-01

    Full Text Available While colorectal carcinoma is a common gastrointestinal cancer in adults, it is rare in pediatrics with an incidence of 1 : 1,000,000 and represents a fraction of neoplasms encountered in children. Malignant neoplasms represent a major cause of mortality in the pediatric age group. While presenting with weight loss, iron deficiency, rectal bleeding, abdominal pain, and change in bowel habits, or symptoms similar to acute appendicitis, the working diagnosis may be considered to be anorexia. This case illustrates the importance of considering colon cancer among other disease entities as a cause of unintentional weight loss in adolescents. While this is a rare occurrence in the pediatric population, significant unintentional weight loss with altered bowel habits should prompt a search for underlying malignancy—even in the absence of a positive family history or predisposing cancer syndromes.

  19. Fournier’s Gangrene after Open Hemorrhoidectomy without a Predisposing Factor: Report of a Case and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Guldeniz Karadeniz Cakmak

    2009-05-01

    Full Text Available Fournier’s gangrene (FG is a fatal synergistic infectious disease with necrotizing fasciitis of the perineum and abdominal wall along with the scrotum and penis in men and vulva in women. An unpredictable case of FG two weeks after open hemorrhoidectomy in a previously healthy 55-year-old male is described. Full-thickness patchy skin necrosis of the perianal, perineal and scrotal region associated with rectal perforation was detected on admission. Prompt radical debridement together with aggressive fluid resuscitation and broad-spectrum antibiotic administration was initiated. Because of rectal involvement, diverting sigmoid colostomy was fashioned. The patient survived after two additional local debridements. Nevertheless, loss of sphincter function due to massive muscle destruction led to permanent colostomy. Our case together with others reported in the literature illustrates that, although rare, FG after open hemorrhoidectomy represents a life-threatening complication to otherwise healthy patients. The development of fever and urinary retention should draw the attention of the surgeon, even if the presentation is delayed. The current literature only briefly mentions the potential risk of FG after such a common surgical procedure. However, devastating complications occur more often than anticipated. This disastrous complication without predisposing factor is discussed along with a literature review.

  20. Renal impairment in stroke patients: A comparison between the haemorrhagic and ischemic variants [version 1; referees: 2 approved, 1 not approved

    Directory of Open Access Journals (Sweden)

    Pratyush Shrestha

    2017-08-01

    Full Text Available Background: Renal impairment is regularly seen in hospitalized stroke patients, affecting the outcome of patients, as well as causing difficulties in their management. A prospective cohort study was conducted to assess the trend of renal function in hospitalized ischemic and haemorrhagic stroke patients. The incidence of renal impairment in these subgroups, the contributing factors and the need for renal replacement in renal impaired patients was evaluated. Methods: Alternate day renal function testing was performed in hospitalized stroke patients. Estimated glomerular filtration rate (e-GFR was calculated and the trend of renal function in the two stroke subgroups (haemorrhagic and ischemic was assessed, with renal impairment defined as e-GFR < 60mL/ minute per 1.73m2. Results: Among 52 patients, 25 had haemorrhagic stroke (mean age 59.81 ± 14.67 and 27 had ischemic stroke (mean age 56.12 ± 13.08. The mean e-GFR (mL/minute per 1.732m2 at admission in the haemorrhagic stroke subgroup was 64.79 ± 25.85 compared to 86.04 ± 26.09 in the ischemic stroke subgroup (p=0.005. Sixteen out of 25 (64% patients in the haemorrhagic stroke subgroup and 9 out of 27 (33.3% patients in the ischemic subgroup developed renal impairment (p=0.27. The location of the bleed (p=0.8, volume of hematoma (p=0.966 and surgical intervention (p=0.4 did not predispose the patients to renal impairment. One out of 16 patients with haemorrhagic stroke (who eventually died, and 2 out of 9 patients with ischemic stroke required renal replacement. Conclusion: Renal impairment is commonly seen in stroke patients, more so in patients who suffered haemorrhagic strokes.  The impairment, however, is transient and rarely requires renal replacement therapy.

  1. Central nervous system involvement in adult patients with invasive infection caused by Streptococcus agalactiae.

    Science.gov (United States)

    Oyanguren, B; Esteban, L; Guillán, M; de Felipe, A; Alonso Cánovas, A; Navas, E; Quereda, C; Corral, I

    2015-04-01

    Streptococcus agalactiae is frequently an asymptomatic coloniser and a cause of neonatal and puerperal sepsis. Infections in nonpregnant adults are uncommon. The frequency of neurological complications caused by invasive infection with this microorganism in adults remains unknown. Here, we study the frequency and characteristics of central nervous system (CNS) involvement in adults with invasive S. agalactiae infection. Review of all adults with invasive S. agalactiae infection between 2003 and 2011 in a tertiary hospital. S. agalactiae was isolated from blood, CSF or synovial fluid in 75 patients. Among them, 7 (9,3%) displayed neurological involvement: 5 men and 2 nonpregnant women, aged between 20 and 62 years. Diagnoses were spinal epidural abscess due to spondylodiscitis with spinal cord compression; acute bacterial meningitis; ischemic stroke as presentation of bacterial endocarditis (2 patients each); and meningoventriculitis after neurosurgery and ventricular shunting. One patient with endocarditis caused by S. agalactiae and S. aureus died in the acute phase, and another died 3 months later from metastatic cancer. The other patients recovered without sequelae. All patients had systemic predisposing factors for infection and 5 (71,4%) had experienced disruption of the mucocutaneous barrier as a possible origin of the infection. CNS involvement is not uncommon in adult patients with invasive infection caused by S. agalactiae. Isolating S. agalactiae, especially in cases of meningitis, should lead doctors to search for predisposing systemic disease and causes of mucocutaneous barrier disruption. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  2. ANTIMICROBIAL TREATMENT BEFORE DENTAL PROCEDURES IN PATIENTS WITH BACTERIAL ENDOCARDITIS

    Directory of Open Access Journals (Sweden)

    Adriana Krasteva

    2010-12-01

    Full Text Available Infective endocarditis is a rare condition with significant morbidity and mortality. It may arise following bacteraemia in a patient with a predisposing cardiac lesion. In an attempt to prevent this disease, over the past 50 years, at-risk patients have been given antibiotic prophylaxis before dental procedures.

  3. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

    DEFF Research Database (Denmark)

    de Kovel, Carolien G F; Trucks, Holger; Helbig, Ingo

    2010-01-01

    could be examined in 14 families. While 10 microdeletions were inherited (seven maternal and three paternal transmissions), four microdeletions occurred de novo at 15q13.3 (n = 1), 16p13.11 (n = 2) and 22q11.2 (n = 1). Eight of the transmitting parents were clinically unaffected, suggesting...... syndromes. The candidate microdeletions were assessed by high-density single nucleotide polymorphism arrays in 1234 patients with idiopathic generalized epilepsy from North-western Europe and 3022 controls from the German population. Microdeletions were validated by quantitative polymerase chain reaction.......2 (odds ratio = 4.9; 95% confidence interval 1.8-13.2; P = 4.2 x 10(-4)) and 16p13.11 (odds ratio = 7.4; 95% confidence interval 1.3-74.7; P = 0.009). Including nine patients with idiopathic generalized epilepsy in this cohort with known 15q13.3 microdeletions (IGE/control: 9/0), parental transmission...

  4. Community-acquired bacterial meningitis in elderly patients: experience over 30 years.

    Science.gov (United States)

    Cabellos, Carmen; Verdaguer, Ricard; Olmo, Montse; Fernández-Sabé, Nuria; Cisnal, Maria; Ariza, Javier; Gudiol, Francesc; Viladrich, Pedro F

    2009-03-01

    Clinical characteristics, etiologies, evolution, and prognostic factors of community-acquired bacterial meningitis in elderly patients are not well known. To improve this knowledge, all episodes of community-acquired bacterial meningitis were prospectively recorded and cases occurring in patients >or=65 years old were selected. During the period 1977-2006, 675 episodes in adults (aged >or=18 yr) were recorded, with 185 (27%) in patients aged >or=65 years old; 76 were male and 109 were female, with a mean age of 73 +/- 6 years (range, 65-93 yr). Causative microorganisms were Streptococcus pneumoniae 74, Neisseria meningitidis 49, Listeria monocytogenes 17, other streptococcal 9, Escherichia coli 6, Haemophilus influenzae 4, Klebsiella pneumoniae and Staphylococcus aureus 2 each, Capnocytophaga canimorsus and Enterococcus faecalis 1 each, and unknown in 20. On admission 91% had had fever, 32% were in a coma (Glasgow Coma Scale or=65 yr), who showed a higher frequency of diabetes and malignancy as underlying disease; pneumonia, otitis, and pericranial fistula as predisposing factors; and S. pneumoniae and L. monocytogenes as etiology. There were also differences in clinical presentation, complications, sequelae, and mortality. Factors independently related with mortality were age, pneumonia as a predisposing factor, coma on admission, and heart failure and seizures after therapy. Dexamethasone therapy was a protective factor. In conclusion, bacterial meningitis in elderly patients is associated with greater diagnostic difficulties and neurologic severity and more complications, as well as with increased mortality. Antiseizure prophylaxis might be useful in these patients.

  5. The P9 pocket of HLA-DQ2 (non-Aspbeta57) has no particular preference for negatively charged anchor residues found in other type 1 diabetes-predisposing non-Aspbeta57 MHC class II molecules

    DEFF Research Database (Denmark)

    Quarsten, H; Paulsen, G; Johansen, B H

    1998-01-01

    Susceptibility and resistance to type 1 diabetes are associated with MHC class II alleles that carry non-Asp and Asp at residue 57 of their beta chain respectively. The effect of Asp or non-Aspbeta57 may relate to a differential ability of distinct class II molecules to bind specific immuno......-pathogenic peptides. Recent studies in man and mouse have revealed that some type 1 diabetes-predisposing non-Aspbeta57 class II molecules (i.e. DQ8, DR4Dw15 and I-Ag7) preferentially bind peptides with a negatively charged anchor residue at P9. It has been suggested that this is a common feature of type 1 diabetes......-predisposing class II molecules. The molecular explanation for such a phenomenon could be that class II beta chains with Aspbeta57 form a salt bridge between Aspbeta57 and a conserved Arg of the a chain, whereas in non-Aspbeta57 molecules the Arg is unopposed and free to interact with negatively charged P9 peptide...

  6. Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance.

    Directory of Open Access Journals (Sweden)

    Huiling He

    Full Text Available Thyroid cancer shows high heritability but causative genes remain largely unknown. According to a common hypothesis the genetic predisposition to thyroid cancer is highly heterogeneous; being in part due to many different rare alleles. Here we used linkage analysis and targeted deep sequencing to detect a novel single-nucleotide mutation in chromosome 4q32 (4q32A>C in a large pedigree displaying non-medullary thyroid carcinoma (NMTC. This mutation is generally ultra-rare; it was not found in 38 NMTC families, in 2676 sporadic NMTC cases or 2470 controls. The mutation is located in a long-range enhancer element whose ability to bind the transcription factors POU2F and YY1 is significantly impaired, with decreased activity in the presence of the C- allele compared with the wild type A-allele. An enhancer RNA (eRNA is transcribed in thyroid tissue from this region and is greatly downregulated in NMTC tumors. We suggest that this is an example of an ultra-rare mutation predisposing to thyroid cancer with high penetrance.

  7. Renal AA amyloidosis in a patient with hereditary complete complement C4 deficiency

    Directory of Open Access Journals (Sweden)

    Imed Helal

    2011-01-01

    Full Text Available Hereditary complete C4 deficiency has until now been reported in 30 cases only. A disturbed clearance of immune- complexes probably predisposes these individuals to systemic lupus erythematosus, other immune- complex diseases and recurrent microbial infections. We present here a 20- year- old female with hereditary complete C4 deficiency. Renal biopsy demonstrated renal AA amyloidosis. This unique case further substantiates that deficiency of classical pathway components predisposes to the development of recurrent microbial infections and that the patients may develop AA amyloidosis. Furthermore, in clinical practice, the nephrotic syndrome occurring in a patient with hereditary complete complement C4 deficiency should lead to the suspicion of renal AA amyloidosis.

  8. Transcatheter aortic valve implantation for a failed bio-bentall in patients with Marfan syndrome.

    Science.gov (United States)

    Beigel, Roy; Siegel, Robert J; Kahlon, Ravi S; Jilaihawi, Hasan; Cheng, Wen; Makkar, Raj R

    2014-01-01

    Patients with Marfan syndrome are at risk for ascending aortic dilation and dissection at the level of the aortic sinuses, making aortic root and valve replacement common. Patients undergoing an aortic root replacement with concomitant replacement of the aortic valve with a bioprosthesis (Bio-Bentall) are predisposed to bioprosthesis failure. Transcatheter aortic valve implantation (TAVI) has become an option for aortic valve replacement, avoiding cardiopulmonary bypass and/or median sternotomy. We present the first 2 reported patients with Marfan syndrome who underwent a valve-in-valve TAVI in the setting of a prior Bio-Bentall. © 2014 S. Karger AG, Basel.

  9. Environmental cleaning and disinfection of patient areas

    Directory of Open Access Journals (Sweden)

    Michelle Doll

    2018-02-01

    Full Text Available The healthcare setting is predisposed to harbor potential pathogens, which in turn can pose a great risk to patients. Routine cleaning of the patient environment is critical to reduce the risk of hospital-acquired infections. While many approaches to environmental cleaning exist, manual cleaning supplemented with ongoing assessment and feedback may be the most feasible for healthcare facilities with limited resources.

  10. Cerebrospinal Fluid Leak at Percutaneous Exit of Ventricular Catheter as a Crucial Risk Factor for External Ventricular Drainage-Related Infection in Adult Neurosurgical Patients.

    Science.gov (United States)

    Park, Jaechan; Choi, Yeon-Ju; Ohk, Boram; Chang, Hyun-Ha

    2018-01-01

    The placement of a ventricular catheter for temporary cerebrospinal fluid (CSF) diversion is associated with a considerable risk of CSF infection. The authors investigated the effect of a CSF leak on CSF-related infection and the predisposing factors for a CSF leak. Fifty-two patients who underwent external ventricular drainage (EVD) for acute hydrocephalus associated with a subarachnoid hemorrhage or intraventricular hemorrhage (IVH) were enrolled in this prospective study. A CSF leak-detection paper (small sterilized filter paper) was applied at the percutaneous catheter exit site to check for any bloody CSF leak. In addition, radiologic and clinical data were collected. Four of the 52 patients (7.7%) developed an EVD-related CSF infection from organisms including Staphylococcus epidermidis (n = 3) and Staphylococcus hominis (n = 1). A prolonged CSF leak >1 day was detected in 9 patients (17.3%) and revealed as a significant risk factor for CSF infection with a 44.4% positive predictive value. Moreover, an IVH >10 mL was found in 11 patients (21.2%) and revealed as a significant predisposing factor for a CSF leak at the percutaneous catheter exit. A prolonged CSF leak for >1 day at the percutaneous catheter exit site is a crucial risk factor for EVD-related CSF infection and an IVH >10 mL is a predisposing factor for a CSF leak. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Replacing sugary drinks with milk is inversely associated with weight gain among young obesity-predisposed children

    DEFF Research Database (Denmark)

    Zheng, Miaobing; Rangan, Anna; Allman-Farinelli, Margaret

    2015-01-01

    The aim of the present study was to examine the associations of sugary drink consumption and its substitution with alternative beverages with body weight gain among young children predisposed to future weight gain. Secondary analysis of the Healthy Start Study, a 1·5-year randomised controlled...... trial designed to prevent overweight among Danish children aged 2-6 years (n 366), was carried out. Multivariate linear regression models were used to investigate the associations of beverage consumption with change in body weight (Δweight) or BMI(ΔBMI) z-score. Substitution models were used...... to extrapolate the influence of replacing sugary drinks with alternative beverages (water, milk and diet drinks) on Δweight or ΔBMI z-score. Sugary drink intake at baseline and substitution of sugary drinks with milk were associated with both Δweight and ΔBMI z-score. Every 100 g/d increase in sugary drink...

  12. Ankle sprain: pathophysiology, predisposing factors, and management strategies

    Directory of Open Access Journals (Sweden)

    Tricia J Hubbard

    2010-07-01

    Full Text Available Tricia J Hubbard, Erik A WikstromUNC Charlotte, Department of Kinesiology, CharlotteAbstract: With the high percentage (up to 75% of initial lateral ankle sprains (LAS leading to repetitive sprains and chronic symptoms, it is imperative to better understand how best to treat and rehabilitate LAS events. The purpose of this paper is to review LAS pathophysiology, predisposing factors, and the current evidence regarding therapeutic modalities and exercises used in the treatment of LAS. Functional rehabilitation, early mobilization with support, is the current standard of care for LAS. However, the high percentage of reinjury occurrence and development of chronic symptoms (up to 75% after a LAS, suggests the current standard of care may not be effective. Recent evidence has shown the need for more stringent immobilization to facilitate ligament healing and restoration of joint stability and function after a LAS. Additionally, the importance of adding adjunctive therapies, specifically joint mobilizations and balance training have been shown to improve function and decrease the incidence of reinjury after a LAS. Modifying current rehabilitation protocols to include protecting the ankle joint with stringent immobilization, and including joint mobilizations and balance training may be the first step to decreasing the incidence of short and long term ankle joint dysfunction.Keywords: rehabilitation, recurrent sprains, chronic ankle instability (CAI

  13. Safety issues in established predisposal waste management practices

    International Nuclear Information System (INIS)

    Thomas, W.

    2000-01-01

    Radioactive wastes generated at various stages in the nuclear fuel cycle vary considerably in relation to volume, physical and chemical properties, and radioactivity. The management of these wastes prior to disposal has to be adapted to these conditions, which calls for suitable characterization and minimization, collection, interim storage and conditioning of the wastes. Experience gained over decades shows that current predisposal waste management practices are well advanced. Whereas problems related to inadequate waste management practices in the past have been encountered at several sites and need ongoing remedial actions, modern practices have good safety records. Considerable development and improvement of waste management practices have been achieved and as a consequence of delays in implementing repositories in several countries they remain important tasks. Decommissioning and dismantling of nuclear facilities also have to be taken into account. In most cases, these activities can be performed using existing technical means and practices. No significant safety concerns have been found for the long term storage of spent fuel and vitrified waste. Dry storage has reached technical maturity and appears to be attractive, especially for aged fuel. It has, however, to be stressed that long term storage is not the ultimate solution. Continued efforts to implement repositories are mandatory in order to maintain a credible and responsible strategy for waste management. (author)

  14. Predisposal Management of Radioactive Waste from Nuclear Fuel Cycle Facilities. Specific Safety Guide

    International Nuclear Information System (INIS)

    2016-01-01

    This Safety Guide provides guidance on the predisposal management of all types of radioactive waste (including spent nuclear fuel declared as waste and high level waste) generated at nuclear fuel cycle facilities. These waste management facilities may be located within larger facilities or may be separate, dedicated waste management facilities (including centralized waste management facilities). The Safety Guide covers all stages in the lifetime of these facilities, including their siting, design, construction, commissioning, operation, and shutdown and decommissioning. It covers all steps carried out in the management of radioactive waste following its generation up to (but not including) disposal, including its processing (pretreatment, treatment and conditioning). Radioactive waste generated both during normal operation and in accident conditions is considered

  15. Primary Cutaneous Aspergillosis in an Immunocompetent Patient

    African Journals Online (AJOL)

    are the lungs, central nervous system (CNS), and sinuses, however, the rare cutaneous infection is usually associated with immunodeficiency. Primary cutaneous infection, especially in immunocompetent patients, is extremely rare, but an increase in prevalence has been noted in the last. 20 years. The predisposing factors ...

  16. Oral Candida colonization and candidiasis in patients with psoriasis.

    Science.gov (United States)

    Bedair, Ahmad A; Darwazeh, Azmi M G; Al-Aboosi, Mustafa M

    2012-11-01

    The objective of this study was to investigate oral Candida colonization and candidosis in a group of patients with psoriasis and controls. A total of 100 patients with psoriasis and matched controls underwent the concentrated oral rinse test for Candida isolation. Candida species were identified by the VITEK 2 Identification System. Categorical variables were evaluated using the χ(2) test. The median Candida count was compared using the Mann-Whitney U test. Oral candidiasis was diagnosed in 3% of the patients with psoriasis. The Candida count and prevalence were significantly higher in the patients with psoriasis compared with controls (69% vs 44%, P Oral Candida was significantly higher in late-onset (at age ≥30 years) compared with early-onset psoriasis (at age oral Candida colonization and candidiasis. Further studies are needed to clarify the predisposing factor(s) for oral Candida in patients with psoriasis. Copyright © 2012 Elsevier Inc. All rights reserved.

  17. Factors predisposing to early childhood caries (ECC) in children of pre-school age in the city of Zagreb, Croatia.

    Science.gov (United States)

    Lulić-Dukić, O; Jurić, H; Dukić, W; Glavina, D

    2001-06-01

    The aim of this study was to investigate factors predisposing to early childhood caries (ECC) in pre-school children in the city of Zagreb, Croatia. The investigation was carried out on the sample of 145 children (77 boys and 68 girls) aged between 2 and 5 years, including clinical examination of dental status and survey on the habits among the parents. The overall prevalence of ECC was 30%: in girls it was 25%, and in boys 48%. The study on the risk factors was designed as a classic case-control study. The mean value of dmfs index among the cases amounted to 8.6, in comparison to 5.2 in the control group (pteeth-brushing habit after first 24 months did (p importance of early introduction of teeth-brushing and giving up the nightly consumption of sweet beverages in prevention of ECC.

  18. Landslide Susceptibility Mapping Based on Selected Optimal Combination of Landslide Predisposing Factors in a Large Catchment

    Directory of Open Access Journals (Sweden)

    Qianqian Wang

    2015-12-01

    Full Text Available Landslides are usually initiated under complex geological conditions. It is of great significance to find out the optimal combination of predisposing factors and create an accurate landslide susceptibility map based on them. In this paper, the Information Value Model was modified to make the Modified Information Value (MIV Model, and together with GIS (Geographical Information System and AUC (Area Under Receiver Operating Characteristic Curve test, 32 factor combinations were evaluated separately, and factor combination group with members Slope, Lithology, Drainage network, Annual precipitation, Faults, Road and Vegetation was selected as the optimal combination group with an accuracy of 95.0%. Based on this group, a landslide susceptibility zonation map was drawn, where the study area was reclassified into five classes, presenting an accurate description of different levels of landslide susceptibility, with 79.41% and 13.67% of the validating field survey landslides falling in the Very High and High zones, respectively, mainly distributed in the south and southeast of the catchment. It showed that MIV model can tackle the problem of “no data in subclass” well, generate the true information value and show real running trend, which performs well in showing the relationship between predisposing factors and landslide occurrence and can be used for preliminary landslide susceptibility assessment in the study area.

  19. Analysis of 6174delT Mutation in BRCA2 Gene by Mutagenically Separated PCR Among Libyan Patients with Breast Cancer

    Directory of Open Access Journals (Sweden)

    Lamia Elfandi

    2016-03-01

    Full Text Available Background: Breast cancer is the most common malignancy among women. It is estimated that 1 in 10 women worldwide is affected by breast cancer during their lifetime. In 5 to 10% of breast cancer patients, the disease results from a hereditary predisposition, which can be attributable to mutations in either of two tumor suppressor genes, BRCA1 and BRCA2 to a large extent. BRCA2 6174delT mutation constitutes the common mutant alleles which predispose to hereditary breast cancer in the Ashkenazi population with a reported carrier frequency of 1.52%. In this study, we investigated the presence of the 6174delT mutation of the BRCA2 gene in Libyan woman affected with breast cancer and compared the results with those of other population groups.Methods: Eighty- five Libyan women with breast cancer in additions to 5 relatives of the patients (healthy individuals were recruited to this study. We obtained clinical information, family history, and peripheral blood for DNA extraction and analyzed the data using multiplex mutagenic polymerase chain reaction (MS-PCR for detection of 6174delT mutation in the BRCA2 gene. Results: The 6174delT of the BRCA2 gene was not detected either in the 85 patients with breast cancer (18 with familial breast cancer and 67 with sporadic breast cancer nor in the 5 healthy individuals. Conclusions: The present study showed that the 6174delT of the BRCA2 gene was not detectable using mutagenic PCR in the Libyan patients with breast cancer and can be considered to be exceedingly rare

  20. Assessment of IgG Antibodies Against HSV1, HSV2, CMV and EBV in Patients with Pemphigus Vulgaris versus Healthy People

    Directory of Open Access Journals (Sweden)

    Parichehr Ghalayani

    2016-08-01

    Full Text Available Objectives: Regarding the implication of viruses particularly herpes in pemphigus vulgaris, we sought to assess and compare the level of immunoglobulin G (IgG antibodies against herpes simplex virus types 1 and 2 (HSV1 and HSV2, cytomegalovirus (CMV and Epstein-Barr virus (EBV in patients with pemphigus vulgaris and healthy people.    Materials and Methods: In this cross-sectional study, 25 patients with pemphigus vulgaris and 27 healthy individuals comprised the experimental and control groups, respectively. Serum samples were taken from both groups; the levels of IgG antibodies against HSV1, HSV2, CMV and EBV were measured using ELISA.  Results: Immunoglobulin G titer was higher for all four viruses in the patient group in comparison to the control group. This difference was significant for anti-EBV (P= 0.005, anti-CMV (P=0.0001 and anti-HSV2 (P=0.001 but not significant for anti-HSV1 (P= 0.36.Conclusion: Viruses including EBV, CMV, and HSV2 probably play a role in the pathogenesis of pemphigus in addition to the effects of genetics, toxins and other predisposing factors. In this study, no statistically significant relationship was observed between HSV1 and pemphigus vulgaris, which was probably due to the high titer of anti-HSV1 IgG in healthy individuals in the community. More studies must be done in this regard.

  1. SMARCB1 involvement in the development of leiomyoma in a patient with schwannomatosis

    NARCIS (Netherlands)

    Hulsebos, Theo J. M.; Kenter, Susan; Siebers-Renelt, Ulrike; Hans, Volkmar; Wesseling, Pieter; Flucke, Uta

    2014-01-01

    Germline SMARCB1 mutations predispose in schwannomatosis patients to the development of multiple benign schwannomas and, in some cases, meningiomas. Here, we report on a 34-year-old female patient who developed multiple schwannomas at various locations and in addition a leiomyoma of the cervix

  2. SMARCB1 Involvement in the Development of Leiomyoma in a Patient With Schwannomatosis

    NARCIS (Netherlands)

    Hulsebos, T.J.M.; Kenter, S.; Siebers-Renelt, U.; Hans, V.; Wesseling, P.; Flucke, U.E.

    2014-01-01

    Germline SMARCB1 mutations predispose in schwannomatosis patients to the development of multiple benign schwannomas and, in some cases, meningiomas. Here, we report on a 34-year-old female patient who developed multiple schwannomas at various locations and in addition a leiomyoma of the cervix

  3. Evaluation of White Striping prevalence and predisposing factors in broilers at slaughter.

    Science.gov (United States)

    Russo, Elisa; Drigo, Michele; Longoni, Corrado; Pezzotti, Raffaele; Fasoli, Paolo; Recordati, Camilla

    2015-08-01

    White striping ( WS: ) is an alteration of breast and thigh muscles of broiler chickens characterized by the presence of white striations parallel to the direction of muscle fibers. This study was performed to evaluate the prevalence and the predisposing factors to WS in commercial broilers of different weight reared in northern Italy. Fifty seven broiler flocks, including animals of medium- and heavy-weight, were grossly evaluated at slaughter for the presence of WS. For each flock, breeding data (mean BW at slaughter, ADG, sex, color of skin and fat, genetic line, age, antibiotic treatment, and prevalence of deep pectoral myopathy) were collected and statistically analyzed to assess their correlation with WS. Histology of breast fillets affected by different grades of WS was performed to evaluate potential differences between medium- and heavy-weight broilers. The overall prevalence of WS in medium- and heavy-weight broilers (mean BW 2.59 ± 0.13 kg and 3.64 ± 0.34 kg, respectively) was 70.2 ± 7.9% and 82.51 ± 8.5%, respectively, while the percentage of severe WS was 13.3 ± 7.1% and 25.7 ± 12.8%, respectively. A strong correlation was found between presence of WS, BW at slaughter, and ADG (Pearson correlation = 0.69, P myopathy (Spearman's Rho slaughterhouse 1 = 0.74, Spearman's Rho slaughterhouse 2 = 0.51, P myopathy, and that the lesions, as expected, were more severe in heavy-weight broilers. In conclusion, WS is a major concern in commercial meat poultry reared in Italy, affecting more severely heavier broilers, and it is mainly related to the BW and ADG of animals. © 2015 Poultry Science Association Inc.

  4. A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

    Science.gov (United States)

    Yokoyama, Satoru; Woods, Susan L.; Boyle, Glen M.; Aoude, Lauren G.; MacGregor, Stuart; Zismann, Victoria; Gartside, Michael; Cust, Anne E.; Haq, Rizwan; Harland, Mark; Taylor, John C.; Duffy, David L.; Holohan, Kelly; Dutton-Regester, Ken; Palmer, Jane M.; Bonazzi, Vanessa; Stark, Mitchell S.; Symmons, Judith; Law, Matthew H.; Schmidt, Christopher; Lanagan, Cathy; O’Connor, Linda; Holland, Elizabeth A.; Schmid, Helen; Maskiell, Judith A.; Jetann, Jodie; Ferguson, Megan; Jenkins, Mark A.; Kefford, Richard F.; Giles, Graham G.; Armstrong, Bruce K.; Aitken, Joanne F.; Hopper, John L.; Whiteman, David C.; Pharoah, Paul D.; Easton, Douglas F.; Dunning, Alison M.; Newton-Bishop, Julia A.; Montgomery, Grant W.; Martin, Nicholas G.; Mann, Graham J.; Bishop, D. Timothy; Tsao, Hensin; Trent, Jeffrey M.; Fisher, David E.; Hayward, Nicholas K.; Brown, Kevin M.

    2012-01-01

    So far, two familial melanoma genes have been identified, accounting for a minority of genetic risk in families. Mutations in CDKN2A account for approximately 40% of familial cases1, and predisposing mutations in CDK4 have been reported in a very small number of melanoma kindreds2. To identify other familial melanoma genes, here we conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (coding DNA sequence c.G1075A; protein sequence p.E318K; rs149617956) in the melanoma-lineage-specific oncogene microphthalmia-associated transcription factor (MITF). Although the variant co-segregated with melanoma in some but not all cases in the family, linkage analysis of 31 families subsequently identified to carry the variant generated a log odds ratio (lod) score of 2.7 under a dominant model, indicating E318K as a possible intermediate risk variant. Consistent with this, the E318K variant was significantly associated with melanoma in a large Australian case–control sample. Likewise, it was similarly associated in an independent case–control sample from the United Kingdom. In the Australian sample, the variant allele was significantly over-represented in cases with a family history of melanoma, multiple primary melanomas, or both. The variant allele was also associated with increased naevus count and non-blue eye colour. Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets. These data indicate that MITF is a melanoma-predisposition gene and highlight the utility of whole-genome sequencing to identify novel rare variants associated with disease susceptibility. PMID:22080950

  5. Shorter sleep duration is associated with higher energy intake and an increase in BMI z-score in young children predisposed to overweight

    DEFF Research Database (Denmark)

    Rangan, A.; Zheng, M.; Olsen, N. J.

    2018-01-01

    in a group of young obesity-predisposed children, and to assess whether intakes of energy or macronutrients mediate this relationship. Methods: Participants included 368 Danish children aged 2–6 years from the Healthy Start Study, a 1.3 year randomised controlled intervention trial. Sleep habits were...... was 10.7 h (range 8.8–12.5 h). After controlling for potential confounders, a significant inverse association between nighttime sleep duration and ΔBMI z-score (β=−0.090, P=0.046) was observed. This relationship was mediated by energy intake, with all macronutrients contributing to this mediation effect...

  6. Patient Factors Associated with Guideline-concordant Treatment of Anxiety and Depression in Primary Care

    NARCIS (Netherlands)

    Prins, Marijn A.; Verhaak, Peter F. M.; Smolders, Mirrian; Laurant, Miranda G. H.; van der Meer, Klaas; Spreeuwenberg, Peter; van Marwijk, Harm W. J.; Penninx, Brenda W. J. H.; Bensing, Jozien M.

    To identify associations of patient characteristics (predisposing, enabling and need factors) with guideline-concordant care for anxiety and depression in primary care. Analysis of data from the Netherlands Study of Depression and Anxiety (NESDA). Seven hundred and twenty-one patients with a current

  7. Utilization of dental health care services in context of the HIV epidemic- a cross-sectional study of dental patients in the Sudan.

    Science.gov (United States)

    Nasir, Elwalid Fadul; Astrøm, Anne Nordrehaug; David, Jamil; Ali, Raouf Wahab

    2009-11-16

    HIV infected patients should be expected in the Sudanese dental health care services with an increasing frequency. Dental care utilization in the context of the HIV epidemic is generally poorly understood. Focusing on Sudanese dental patients with reported unknown HIV status, this study assessed the extent to which Andersen's model in terms of predisposing (socio-demographics), enabling (knowledge, attitudes and perceived risk related to HIV) and need related factors (oral health status) predict dental care utilization. It was hypothesized that enabling factors would add to the explanation of dental care utilization beyond that of predisposing and need related factors. Dental patients were recruited from Khartoum Dental Teaching Hospital (KDTH) and University of Science and Technology (UST) during March-July 2008. A total of 1262 patients (mean age 30.7, 56.5% females and 61% from KDTH) were examined clinically (DMFT) and participated in an interview. A total of 53.9% confirmed having attended a dental clinic for treatment at least once in the past 2 years. Logistic regression analysis revealed that predisposing factors; travelling inside Sudan (OR = 0.5) were associated with lower odds and females were associated with higher odds (OR = 2.0) for dental service utilization. Enabling factors; higher knowledge of HIV transmission (OR = 0.6) and higher HIV related experience (OR = 0.7) were associated with lower odds, whereas positive attitudes towards infected people and high perceived risk of contagion (OR = 1.3) were associated with higher odds for dental care utilization. Among need related factors dental caries experience was strongly associated with dental care utilization (OR = 4.8). Disparity in the history of dental care utilization goes beyond socio-demographic position and need for dental care. Public awareness of HIV infection control and confidence on the competence of dentists should be improved to minimize avoidance behaviour and help establish dental

  8. Fournier's gangrene of scrotum in a patient with AIDS.

    OpenAIRE

    Murphy, M; Buckley, M; Corr, J; Vinayagamoorthy, S; Grainger, R; Mulcahy, F M

    1991-01-01

    Fournier's gangrene of the scrotum, a form of necrotising fasciitis, is a rare but potentially fatal disorder. Predisposing conditions include chronic alcoholism and diabetes mellitus, possibly as a result of impaired immunity. Fournier's syndrome, occurring in a patient with AIDS, is described.

  9. Anemia predicts thromboembolic events, bleeding complications and mortality in patients with atrial fibrillation : insights from the RE-LY trial

    NARCIS (Netherlands)

    Westenbrink, B. D.; Alings, M.; Connolly, S. J.; Eikelboom, J.; Ezekowitz, M. D.; Oldgren, J.; Yang, S.; Pongue, J.; Yusuf, S.; Wallentin, L.; van Gilst, W. H.

    BackgroundAnemia may predispose to thromboembolic events or bleeding in anticoagulated patients with atrial fibrillation (AF). ObjectivesTo investigate whether anemia is associated with thromboembolic events and bleeding in patients with AF. Patients and methodsWe retrospectively analyzed the RE-LY

  10. Seroprevalence of Brucellosis in Human Immunodeficiency Virus Infected Patients in Hamadan, Iran

    Science.gov (United States)

    Keramat, Fariba; Majzobi, Mohammad Mehdi; Poorolajal, Jalal; Ghane, Zohreh Zarei; Adabi, Maryam

    2017-01-01

    Objectives Brucellosis is a systemic disease with a wide spectrum of clinical manifestations. This study aimed to determine the seroprevalence of brucellosis in human immunodeficiency virus (HIV) infected patients in Hamadan Province in the west of Iran. Methods A total of 157 HIV-infected patients were screened through standard serological tests, including Wright’s test, Coombs’ Wright test, and 2-mercaptoethanol Brucella agglutination test (2ME test), blood cultures in Castaneda media, and CD4 counting. Data were analyzed using Stata version 11. Results Wright and Coombs’ Wright tests were carried out, and only 5 (3.2%) patients had positive serological results. However, all patients had negative 2ME results, and blood cultures were negative for Brucella spp. Moreover, patients with positive serology and a mean CD4 count of 355.8 ± 203.11 cells/μL had no clinical manifestations of brucellosis, and, and the other patients had a mean CD4 count of 335.55 ± 261.71 cells/μL. Conclusion Results of this study showed that HIV infection is not a predisposing factor of acquiring brucellosis. PMID:28904852

  11. Environmental cleaning and disinfection of patient areas.

    Science.gov (United States)

    Doll, Michelle; Stevens, Michael; Bearman, Gonzalo

    2018-02-01

    The healthcare setting is predisposed to harbor potential pathogens, which in turn can pose a great risk to patients. Routine cleaning of the patient environment is critical to reduce the risk of hospital-acquired infections. While many approaches to environmental cleaning exist, manual cleaning supplemented with ongoing assessment and feedback may be the most feasible for healthcare facilities with limited resources. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

  12. Pseudomembranous candidiasis in patient wearing full denture

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    Nurdiana Nurdiana

    2009-06-01

    Full Text Available Background: Oral candidiasis is a common opportunistic infection of the oral cavity caused by an overgrowth of Candida species, the commonest being Candida albicans. Candida albicans is a harmless commensal organism inhabiting the mouths but it can change into pathogen and invade tissue and cause acute and chronic disease. Dentures predispose to infection with Candida in as many as 65% of elderly people wearing full upper dentures. Purpose: The purpose of this case report is to discuss thrush in patient wearing full denture which rapidly developed. Case: This paper report a case of 57 year-old man who came to the Oral Medicine Clinic Faculty of Dentistry Airlangga University with clinical appearance of pseudomembranous candidiasis (thrush. Case Management: Diagnosis of this case is confirmed with microbiology examination. Patient was wearing full upper dentures, and from anamnesis known that patient wearing denture for 24 hours and he had poor oral hygiene. Patient was treated with topical (nystatin oral suspension and miconazole oral gel and systemic (ketoconazole antifungal. Patient also instructed not to wear his denture and cleaned white pseudomembrane on his mouth with soft toothbrush. Conclusion: Denture, habit of wearing denture for 24 hours, and poor oral hygiene are predisposing factors of thrush and it can healed completely after treated with topical and systemic antifungal.

  13. Proton magnetic resonance spectroscopy shows lower intramyocellular lipid accumulation in middle-aged subjects predisposed to familial longevity.

    Science.gov (United States)

    Wijsman, C A; van Opstal, A M; Kan, H E; Maier, A B; Westendorp, R G J; Slagboom, P E; Webb, A G; Mooijaart, S P; van Heemst, D

    2012-02-01

    Families predisposed to longevity show enhanced glucose tolerance and skeletal muscle insulin sensitivity compared with controls, independent of body composition and physical activity. Intramyocellular lipid (IMCL) accumulation in skeletal muscle has been associated with insulin resistance. Here, we assessed whether subjects enriched for familial longevity have lower IMCL levels. We determined IMCL levels in 48 subjects from the Leiden Longevity Study, comprising 24 offspring of nonagenarian siblings and 24 partners thereof as control subjects. IMCL levels were assessed noninvasively using short echo time proton magnetic resonance spectroscopy ((1)H-MRS) of the tibialis anterior muscle with a 7 Tesla human MR scanner. IMCL levels were calculated relative to the total creatine (tCr) CH3 signal. Physical activity was assessed using the International Physical Activity Questionnaire (IPAQ). After correction for age, sex, BMI, and physical activity, offspring of long-lived nonagenarian siblings tended to show lower IMCL levels compared with controls (IMCL/tCr: 3.1 ± 0.5 vs. 4.5 ± 0.5, respectively, P = 0.051). In a pairwise comparison, this difference reached statistical significance (P = 0.038). We conclude that offspring of nonagenarian siblings predisposed to longevity show lower IMCL levels compared with environmentally matched control subjects. Future research should focus on assessing what mechanisms may explain the lower IMCL levels in familial longevity.

  14. Disturbance of cardiac gene expression and cardiomyocyte structure predisposes Mecp2-null mice to arrhythmias

    Science.gov (United States)

    Hara, Munetsugu; Takahashi, Tomoyuki; Mitsumasu, Chiaki; Igata, Sachiyo; Takano, Makoto; Minami, Tomoko; Yasukawa, Hideo; Okayama, Satoko; Nakamura, Keiichiro; Okabe, Yasunori; Tanaka, Eiichiro; Takemura, Genzou; Kosai, Ken-ichiro; Yamashita, Yushiro; Matsuishi, Toyojiro

    2015-01-01

    Methyl-CpG-binding protein 2 (MeCP2) is an epigenetic regulator of gene expression that is essential for normal brain development. Mutations in MeCP2 lead to disrupted neuronal function and can cause Rett syndrome (RTT), a neurodevelopmental disorder. Previous studies reported cardiac dysfunction, including arrhythmias in both RTT patients and animal models of RTT. In addition, recent studies indicate that MeCP2 may be involved in cardiac development and dysfunction, but its role in the developing and adult heart remains unknown. In this study, we found that Mecp2-null ESCs could differentiate into cardiomyocytes, but the development and further differentiation of cardiovascular progenitors were significantly affected in MeCP2 deficiency. In addition, we revealed that loss of MeCP2 led to dysregulation of endogenous cardiac genes and myocardial structural alterations, although Mecp2-null mice did not exhibit obvious cardiac functional abnormalities. Furthermore, we detected methylation of the CpG islands in the Tbx5 locus, and showed that MeCP2 could target these sequences. Taken together, these results suggest that MeCP2 is an important regulator of the gene-expression program responsible for maintaining normal cardiac development and cardiomyocyte structure. PMID:26073556

  15. A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs.

    Directory of Open Access Journals (Sweden)

    Mia Olsson

    2011-03-01

    Full Text Available Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. A similar periodic fever syndrome is relatively frequent in the Chinese Shar-Pei breed of dogs. In the western world, Shar-Pei have been strongly selected for a distinctive thick and heavily folded skin. In this study, a mutation affecting both these traits was identified. Using genome-wide SNP analysis of Shar-Pei and other breeds, the strongest signal of a breed-specific selective sweep was located on chromosome 13. The same region also harbored the strongest genome-wide association (GWA signal for susceptibility to the periodic fever syndrome (p(raw = 2.3 × 10⁻⁶, p(genome = 0.01. Dense targeted resequencing revealed two partially overlapping duplications, 14.3 Kb and 16.1 Kb in size, unique to Shar-Pei and upstream of the Hyaluronic Acid Synthase 2 (HAS2 gene. HAS2 encodes the rate-limiting enzyme synthesizing hyaluronan (HA, a major component of the skin. HA is up-regulated and accumulates in the thickened skin of Shar-Pei. A high copy number of the 16.1 Kb duplication was associated with an increased expression of HAS2 as well as the periodic fever syndrome (p < 0.0001. When fragmented, HA can act as a trigger of the innate immune system and stimulate sterile fever and inflammation. The strong selection for the skin phenotype therefore appears to enrich for a pleiotropic mutation predisposing these dogs to a periodic fever syndrome. The identification of HA as a major risk factor for this canine disease raises the potential of this glycosaminoglycan as a risk factor for human periodic fevers and as an important driver of chronic inflammation.

  16. Enoxaparin, effective dosage for intensive care patients: double-blinded, randomised clinical trial

    DEFF Research Database (Denmark)

    Robinson, Sian; Zincuk, Aleksander; Strøm, Thomas

    2010-01-01

    ABSTRACT: INTRODUCTION: Intensive care unit (ICU) patients are predisposed to thromboembolism. Routine prophylactic anticoagulation is widely recommended. Low-molecular-weight heparins, such as enoxaparin, are increasingly used because of predictable pharmacokinetics. This study aims to determine...

  17. Lateral retroperitoneal transpsoas interbody fusion in a patient with achondroplastic dwarfism.

    Science.gov (United States)

    Staub, Blake N; Holman, Paul J

    2015-02-01

    The authors present the first reported use of the lateral retroperitoneal transpsoas approach for interbody arthrodesis in a patient with achondroplastic dwarfism. The inherent anatomical abnormalities of the spine present in achondroplastic dwarfism predispose these patients to an increased incidence of spinal deformity as well as neurogenic claudication and potential radicular symptoms. The risks associated with prolonged general anesthesia and intolerance of significant blood loss in these patients makes them ideal candidates for minimally invasive spinal surgery. The patient in this case was a 51-year-old man with achondroplastic dwarfism who had a history of progressive claudication and radicular pain despite previous extensive lumbar laminectomies. The lateral retroperitoneal transpsoas approach was used for placement of interbody cages at L1/2, L2/3, L3/4, and L4/5, followed by posterior decompression and pedicle screw instrumentation. The patient tolerated the procedure well with no complications. Postoperatively his claudicatory and radicular symptoms resolved and a CT scan revealed solid arthrodesis with no periimplant lucencies.

  18. Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia reveals putative predisposing mutations in Fanconi anemia genes.

    Science.gov (United States)

    Spinella, Jean-François; Healy, Jasmine; Saillour, Virginie; Richer, Chantal; Cassart, Pauline; Ouimet, Manon; Sinnett, Daniel

    2015-07-23

    Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer. While the multi-step model of pediatric leukemogenesis suggests interplay between constitutional and somatic genomes, the role of inherited genetic variability remains largely undescribed. Nonsyndromic familial ALL, although extremely rare, provides the ideal setting to study inherited contributions to ALL. Toward this goal, we sequenced the exomes of a childhood ALL family consisting of mother, father and two non-twinned siblings diagnosed with concordant pre-B hyperdiploid ALL and previously shown to have inherited a rare form of PRDM9, a histone H3 methyltransferase involved in crossing-over at recombination hotspots and Holliday junctions. We postulated that inheritance of additional rare disadvantaging variants in predisposing cancer genes could affect genomic stability and lead to increased risk of hyperdiploid ALL within this family. Whole exomes were captured using Agilent's SureSelect kit and sequenced on the Life Technologies SOLiD System. We applied a data reduction strategy to identify candidate variants shared by both affected siblings. Under a recessive disease model, we focused on rare non-synonymous or frame-shift variants in leukemia predisposing pathways. Though the family was nonsyndromic, we identified a combination of rare variants in Fanconi anemia (FA) genes FANCP/SLX4 (compound heterozygote - rs137976282/rs79842542) and FANCA (rs61753269) and a rare homozygous variant in the Holliday junction resolvase GEN1 (rs16981869). These variants, predicted to affect protein function, were previously identified in familial breast cancer cases. Based on our in-house database of 369 childhood ALL exomes, the sibs were the only patients to carry this particularly rare combination and only a single hyperdiploid patient was heterozygote at both FANCP/SLX4 positions, while no FANCA variant allele carriers were identified. FANCA is the most commonly mutated gene in FA and is essential for

  19. Highlights Regarding Host Predisposing Factors to Recurrent Vulvovaginal Candidiasis: Chronic Stress and Reduced Antioxidant Capacity.

    Science.gov (United States)

    Akimoto-Gunther, Luciene; Bonfim-Mendonça, Patrícia de Souza; Takahachi, Gisele; Irie, Mary Mayumi T; Miyamoto, Sônia; Consolaro, Márcia Edilaine Lopes; Svidzinsk, Terezinha I Estivalet

    2016-01-01

    We studied host factors that could predispose women to develop recurrent vulvovaginal candidiasis (RVVC), including glycemia, insulin resistance, chronic stress, antioxidant capacity, overall immune status, local inflammation and vaginal microbiota. The presence of yeasts in vaginal culture was screened in 277 women, with or without signs and symptoms of VVC and RVVC. The presence of an inflammatory process and microbiota were analyzed through vaginal bacterioscopy and cervical-vaginal cytology, respectively. Fasting-blood samples were collected by standard venipuncture for biochemical analyses. Flow cytometry was employed to obtain the T helper/T cytotoxic lymphocyte ratio, and insulin resistance was assessed by the HOMA index (HI). Yeasts were isolated from 71 (26%) women: 23 (32.4%) with a positive culture but without symptoms (COL), 22 (31%) in an acute episode (VVC), and 26 (36.6%) with RVVC. C. albicans was the main yeast isolated in all clinical profiles. The control group (negative culture) comprised 206 women. Diabetes mellitus and insulin resistance were more associated with the positive-culture groups (COL, VVC and RVVC) than with negative ones. The RVVC group showed lower mean levels of cortisol than the control group and lower antioxidant capacity than all other groups. The T Helper/T cytotoxic lymphocyte ratio was similar in all groups. The RVVC group showed a similar level of vaginal inflammation to the control group, and lower than in the COL and VVC groups. Only the CVV group showed a reduction in vaginal lactobacillus microbiota. Our data suggest that both chronic stress (decreased early-morning cortisol levels) and reduced antioxidant capacity can be host predisposing factors to RVVC.

  20. Highlights Regarding Host Predisposing Factors to Recurrent Vulvovaginal Candidiasis: Chronic Stress and Reduced Antioxidant Capacity.

    Directory of Open Access Journals (Sweden)

    Luciene Akimoto-Gunther

    Full Text Available We studied host factors that could predispose women to develop recurrent vulvovaginal candidiasis (RVVC, including glycemia, insulin resistance, chronic stress, antioxidant capacity, overall immune status, local inflammation and vaginal microbiota. The presence of yeasts in vaginal culture was screened in 277 women, with or without signs and symptoms of VVC and RVVC. The presence of an inflammatory process and microbiota were analyzed through vaginal bacterioscopy and cervical-vaginal cytology, respectively. Fasting-blood samples were collected by standard venipuncture for biochemical analyses. Flow cytometry was employed to obtain the T helper/T cytotoxic lymphocyte ratio, and insulin resistance was assessed by the HOMA index (HI. Yeasts were isolated from 71 (26% women: 23 (32.4% with a positive culture but without symptoms (COL, 22 (31% in an acute episode (VVC, and 26 (36.6% with RVVC. C. albicans was the main yeast isolated in all clinical profiles. The control group (negative culture comprised 206 women. Diabetes mellitus and insulin resistance were more associated with the positive-culture groups (COL, VVC and RVVC than with negative ones. The RVVC group showed lower mean levels of cortisol than the control group and lower antioxidant capacity than all other groups. The T Helper/T cytotoxic lymphocyte ratio was similar in all groups. The RVVC group showed a similar level of vaginal inflammation to the control group, and lower than in the COL and VVC groups. Only the CVV group showed a reduction in vaginal lactobacillus microbiota. Our data suggest that both chronic stress (decreased early-morning cortisol levels and reduced antioxidant capacity can be host predisposing factors to RVVC.

  1. Prophylactic antibiotic therapy prior to dental treatment for patients with end-stage renal disease.

    Science.gov (United States)

    Werner, C W; Saad, T F

    1999-01-01

    In the United States, there is a large and growing population of patients undergoing dialysis because of end-stage renal disease (ESRD). These patients present special management considerations for dentists, including antibiotic prophylaxis for the prevention of bacterial endocarditis (BE). ESRD patients, particularly those with an arteriovenous shunt for hemodialysis access, are predisposed to valvular endocarditis. Thus, BE prevention is the primary goal of antibiotic prophylaxis prior to dental or other invasive procedures in these patients. Bacteremia may predispose to infection of synthetic vascular access grafts, although this form of endovascular infection in ESRD patients has not been as well-characterized as BE. Antibiotic prophylaxis may be of some benefit for prevention of synthetic graft infections as well as BE. Poor dentist and physician compliance with BE prophylaxis regimens, as well as errors in dosing, timing, or duration of prophylaxis, have been reported. These problems are of particular concern in the treatment of chronically ill patients. In this article, we review the rationale for prophylactic antibiotic therapy prior to dental procedures in ESRD patients with vascular access. We also elaborate on the current American Heart Association guidelines for BE prophylaxis, and address special considerations for ESRD patients.

  2. Renal cancer in kidney transplanted patients.

    Science.gov (United States)

    Frascà, Giovanni M; Sandrini, Silvio; Cosmai, Laura; Porta, Camillo; Asch, William; Santoni, Matteo; Salviani, Chiara; D'Errico, Antonia; Malvi, Deborah; Balestra, Emilio; Gallieni, Maurizio

    2015-12-01

    Renal cancer occurs more frequently in renal transplanted patients than in the general population, affecting native kidneys in 90% of cases and the graft in 10 %. In addition to general risk factors, malignancy susceptibility may be influenced by immunosuppressive therapy, the use of calcineurin inhibitors (CNI) as compared with mammalian target of rapamycin inhibitors, and the length of dialysis treatment. Acquired cystic kidney disease may increase the risk for renal cancer after transplantation, while autosomal dominant polycystic kidney disease does not seem to predispose to cancer development. Annual ultrasound evaluation seems appropriate in patients with congenital or acquired cystic disease or even a single cyst in native kidneys, and every 2 years in patients older than 60 years if they were on dialysis for more than 5 years before transplantation. Immunosuppression should be lowered in patients who develop renal cancer, by reduction or withdrawal of CNI. Although more evidence is still needed, it seems reasonable to shift patients from CNI to everolimus or sirolimus if not already treated with one of these drugs, with due caution in subjects with chronic allograft nephropathy.

  3. Role of vaginal pallor reaction in predicting late vaginal stenosis after high-dose-rate brachytherapy in treatment-naive patients with cervical cancer.

    Science.gov (United States)

    Yoshida, Ken; Yamazaki, Hideya; Nakamura, Satoaki; Masui, Koji; Kotsuma, Tadayuki; Akiyama, Hironori; Tanaka, Eiichi; Yoshikawa, Nobuhiko; Uesugi, Yasuo; Shimbo, Taiju; Narumi, Yoshifumi; Yoshioka, Yasuo

    2015-07-01

    To assess actual rates of late vaginal stenosis and identify predisposing factors for complications among patients with previously untreated cervical cancer following high-dose-rate brachytherapy. We performed longitudinal analyses of 57 patients using the modified Dische score at 6, 12, 18, 24, 36, and 60 months after treatment, which consisted of 15 interstitial brachytherapys and 42 conventional intracavitary brachytherapys, with a median follow-up time of 36 months (range, 6 to 144 months). More than half of the patients developed grade 1 (mild) vaginal stenosis within the first year of follow-up, and grade 2 (97.5%, moderate) to grade 3 (severe) stenosis gradually increased with time. Actual stenosis rates for grade 1, 2, and 3 were 97.5% (95% confidence interval [CI], 92.7 to 97.5), 60.7% (95% CI, 42.2 to 79.3), and 7.4% (95% CI, 0 to 18.4) at 3 years after treatment. Pallor reaction grade 2-3 at 6 months was only a statistically significant predisposing factor for grade 2-3 late vaginal stenosis 3 years or later with a hazard ratio of 3.48 (95% CI, 1.32 to 9.19; p=0.018) by a multivariate Cox proportional hazard model. Patients with grade 0-1 pallor reaction at 6 months showed a grade ≥2 vaginal stenosis rate of 53%, whereas the grade 2-3 pallor reaction group achieved a grade ≥2 vaginal stenosis rate at 3 years at 100% (p=0.001). High-dose-rate brachytherapy was associated with high incidence of late vaginal stenosis. Pallor reaction grade 2-3 at 6 months was predictive of late grade 2-3 vaginal stenosis at 3 years after treatment. These findings should prove helpful for patient counseling and preventive intervention.

  4. The fellow eye in patients with unilateral retinal detachment: findings and prophylactic treatment.

    Science.gov (United States)

    Laatikainen, L

    1985-10-01

    During a 4-year period, 1978-1981, 312 patients were operated on for unilateral rhegmatogenous detachment of the retina. Of the fellow eyes, 11% showed moderate (VA 0.15-0.4) and 5% severe (VA less than or equal to 0.1) visual impairment. Of the fellow eyes 49% were myopic (- 1.0 D. or more), and aphakia was present in 14%. Details of the peripheral fundus were adequately recordable for 260 fellow eyes. Degenerations considered to predispose to retinal detachment were found in 98 eyes (38%): lattice degeneration in 54 (21%), granular tuft in 17 (7%), retinal tear(s) in 12 (5%), and retinoschisis in 15 (6%). Prophylactic treatment of predisposing degenerations was performed in 91 of the 98 eyes using cryo- or photocoagulation (argon laser). No intra- or permanent post-operative complications were noticed. One of the treated fellow eyes (1.1%) detached 10 months after prophylactic treatment due to new tears. In the untreated group, 6 of the 221 eyes detached (2.7%). The difference was not statistically significant, but the groups were not comparable because 93% of the eyes showing predisposing degenerations were treated. None of the eyes treated for retinal breaks or lattice degeneration has detached. In these cases prophylactic treatment of the fellow eye is recommended. In most eyes cryocoagulation seems to be preferable to photocoagulation.

  5. Prolonged hypophosphatemia following parathyroidectomy in chronic hemodialysis patients

    Directory of Open Access Journals (Sweden)

    Eda Altun

    2015-01-01

    Full Text Available Secondary hyperparathyroidism (SHPT is a common problem in patients with end-stage renal disease. In cases with severe and resistant SHPT, surgical parathyroidectomy (PTX is recommended. Hungry bone syndrome (HBS following surgical PTX is most often associated with hypocalcemia and hypophosphatemia. The mechanisms for the HBS are not clear, and a method for its prevention has not been established. We present three hemodialysis patients with persistant hypophosphatemia after PTX. In our parathyroidectomized patients, hypocalcemia could be corrected with calcium and vitamin D treatment, but hypophosphatemia continued for eight months in one patient and in two other patients until the last visit (10 and 2 months, respectively. Predisposing factors such as old age, diabetes mellitus and parathyroid adenoma were not found in our patients. All three patients were younger (<35 years old and anuric. Hemodialysis durations were seven, three and two years. In summary, HBS presented with hypocalcemia, and especially hypophosphatemia cannot be developed uncommonly and may persist for a long time following PTX in HD patients.

  6. Early alveolar and systemic mediator release in patients at different risks for ARDS after multiple trauma.

    Science.gov (United States)

    Raymondos, Konstantinos; Martin, Michael U; Schmudlach, Tanja; Baus, Stefan; Weilbach, Christian; Welte, Tobias; Krettek, Christian; Frink, Michael; Hildebrand, Frank

    2012-02-01

    Alveolar IL-8 has been reported to early identify patients at-risk to develop ARDS. However, it remains unknown how alveolar IL-8 is related to pulmonary and systemic inflammation in patients predisposed for ARDS. We studied 24 patients 2-6h after multiple trauma. Patients with IL-8 >200 pg/ml in bronchoalveolar lavage (BAL) were assigned to the group at high risk for ARDS (H, n = 8) and patients with BAL IL-8 mediators. The enhanced alveolar and systemic inflammation associated with alveolar IL-8 release should be considered to identify high-risk patients for pulmonary complications after multiple trauma to adjust surgical and other treatment strategies to the individual risk profile. Copyright © 2011 Elsevier Ltd. All rights reserved.

  7. Increased Range of Motion Is Important for Functional Outcome and Satisfaction After Total Knee Arthroplasty in Asian Patients.

    Science.gov (United States)

    Ha, Chul-Won; Park, Yong-Beom; Song, Young-Suk; Kim, Jun-Ho; Park, Yong-Geun

    2016-06-01

    Although range of motion (ROM) is considered as an important factor for good outcome after total knee arthroplasty (TKA), the association of the degree of ROM with functional outcome and patient satisfaction is debated. We, therefore, investigated whether increased ROM would affect functional outcome and patient satisfaction after TKA in Asian patients. We reviewed 630 patients who underwent primary TKA with minimum 2-year follow-up. Clinical outcomes were evaluated by Knee Society (KS) score, Western Ontario and McMaster Universities osteoarthritis index, and high-flexion knee score. Patient satisfaction was evaluated using a validated questionnaire. The association of ROM and change in ROM (cROM) with clinical outcomes and satisfaction were analyzed using partial correlation analysis and multiple median regression analysis. All functional scores showed significant correlation with postoperative ROM (r = 0.129, P = .001 in Knee Society score; r = -0.101, P = .012 in Western Ontario and McMaster Universities osteoarthritis index; r = 0.183, P satisfaction (r = 0.192, P = .005). Postoperative ROM and cROM were revealed as predisposing factors affecting function outcome using multivariable regression analysis. cROM was found as a predisposing factor affecting satisfaction. Based on the results of this study, ROM positively associated with functional outcome and cROM positively associated with patient satisfaction after TKA. These findings suggest that increased ROM after TKA is an important factor for functional outcome and satisfaction in Asian patients. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Studies on the Predisposing Factors of Protein Energy Malnutrition Among Pregnant Women in a Nigerian Community

    Directory of Open Access Journals (Sweden)

    Okwu GN

    2008-01-01

    Full Text Available Protein Energy Malnutrition (PEM continues to be a major public health problem in developing countries and affects mostly infants, young children, pregnant and lactating mothers. This study was carried on some of the factors that predispose pregnant women to PEM and hence identify groups at greater risk. A total of 1387 pregnant women (910 in the urban area and 477 in the rural areas were recruited for the study. Anthropometric indices of weight, height and Body Mass Index (BMI of the pregnant women were measured and semi structured questionnaires were used to elicit information on possible predisposing factors such as age, level of education, parity, child spacing etc. Results obtained showed that the mean weight and height of the rural pregnant women, were significantly (p<0.0001 lower than those of the urban pregnant women. The mean BMI of the rural subjects, was also significantly (p< 0.0027 lower than that of the urban subjects. Analysis of the effect of age showed that the younger age category (24 years and below had significantly (p<0.0001 lower mean BMI and higher prevalence of PEM while the effect of level of education showed significantly (p<0006 lower mean BMI and higher PEM prevalence among the less educated (no formal and primary education. Those with parity of two, one and primipara showed significantly (p<0.0175 lower mean BMI while child spacing did not have any significant effect on both mean BMI and prevalence of PEM. The implications of these findings are discussed and recommendations made on how to tackle the problem.

  9. Serum thyroid auto-antibody contents in GD patients developing hypothyroidism after 131I treatment

    International Nuclear Information System (INIS)

    Cao Huiling; Sun Lijuan; Ji Xiaopeng; Zhao Ming

    2004-01-01

    Objective: To explore the auto-immune factors predisposing to developing hypothyroidism after 131 I treatment in patients with Graves' disease (GD). Methods: Eighty-eight GD patients treated with 131 I were followed for three years. These patients were of two groups: Group A (n=35), serum TGA, TMA, TRAb all positive before treatment; Group B (n=53) serum TGA, TMA negative but TRAb positive. Results: In Group A, 31.40% (n=11) of all the patients were hypothyroid three years after treatment. The result was much better in Group B, with only 3.8% (n=2) being hypothyroid. The difference was significant. Conclusion: GD patients with positive TGA, TMA were liable to develop hypothyroidism after 131 I treatment. Those patients should be treated with lesser amount of the drug accordingly

  10. Methodology for Safety Assessment Applied to Predisposal Waste Management. Report of the Results of the International Project on Safety Assessment Driving Radioactive Waste Management Solutions (SADRWMS) 2004–2010)

    International Nuclear Information System (INIS)

    2015-12-01

    Report of the Results of the International Project on Safety Assessment Driving Radioactive Waste Management Solutions (SADRWMS) (2004–2010) The IAEA’s progamme on Safety Assessment Driving Radioactive Waste Management Solutions (SADRWMS) focused on approaches and mechanisms for application of safety assessment methodologies for the predisposal management of radioactive waste. The initial outcome of the SADRWMS Project was achieved through the development of flowcharts, which have since been incorporated into IAEA Safety Standards Series No. GSG-3, Safety Case and Safety Assessment for Predisposal Management of Radioactive Waste. In 2005, an initial specification was developed for the Safety Assessment Framework (SAFRAN) software tool to apply the SADRWMS flowcharts. In 2008, an in-depth application of the SAFRAN tool and the SADRWMS methodology was carried out on the predisposal management facilities of the Thailand Institute of Nuclear Technology Radioactive Waste Management Centre (TINT Facility). This publication summarizes the content and outcomes of the SADRWMS programme. The Chairman’s Report of the SADRWMS Project and the Report of the TINT test case are provided on the CD-ROM which accompanies this report

  11. A case report of two male siblings with autism and duplication of Xq13-q21, a region including three genes predisposing for autism.

    Science.gov (United States)

    Wentz, Elisabet; Vujic, Mihailo; Kärrstedt, Ewa-Lotta; Erlandsson, Anna; Gillberg, Christopher

    2014-05-01

    Autism spectrum disorder, severe behaviour problems and duplication of the Xq12 to Xq13 region have recently been described in three male relatives. To describe the psychiatric comorbidity and dysmorphic features, including craniosynostosis, of two male siblings with autism and duplication of the Xq13 to Xq21 region, and attempt to narrow down the number of duplicated genes proposed to be leading to global developmental delay and autism. We performed DNA sequencing of certain exons of the TWIST1 gene, the FGFR2 gene and the FGFR3 gene. We also performed microarray analysis of the DNA. In addition to autism, the two male siblings exhibited severe learning disability, self-injurious behaviour, temper tantrums and hyperactivity, and had no communicative language. Chromosomal analyses were normal. Neither of the two siblings showed mutations of the sequenced exons known to produce craniosynostosis. The microarray analysis detected an extra copy of a region on the long arm of chromosome X, chromosome band Xq13.1-q21.1. Comparison of our two cases with previously described patients allowed us to identify three genes predisposing for autism in the duplicated chromosomal region. Sagittal craniosynostosis is also a new finding linked to the duplication.

  12. Ventilator-associated pneumonia in critically ill African patients on ...

    African Journals Online (AJOL)

    Background: Stress ulcer prophylaxis is an integral part of the care of the critically ill. Agents that alter gastric pH may predispose these patients to gastric colonisation, with subsequent pneumonia and/or sepsis. Cytoprotective agents such as sucralfate preserve gastric acidity and may be protective. Objective: To determine ...

  13. Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma.

    Science.gov (United States)

    Chen, Xue; Zhang, Yang; Wang, Fang; Wang, Mangju; Teng, Wen; Lin, Yuehui; Han, Xiangping; Jin, Fangyuan; Xu, Yuanli; Cao, Panxiang; Fang, Jiancheng; Zhu, Ping; Tong, Chunrong; Liu, Hongxing

    2017-11-01

    Certain patients with lymphoma may harbor mutations in perforin 1 (PRF1), unc-13 homolog D (UNC13D), syntaxin 11 (STX11), STXBP2 (syntaxin binding protein 2) or SH2 domain containing 1A (SH2D1A), which causes functional defects of cytotoxic lymphocytes. Data regarding the association between genetic defects and the development of lymphoma in Chinese patients are limited to date. In the present study, 90 patients with lymphoma were analyzed for UNC13D, PRF1, STXBP2, STX11, SH2D1A and X-linked inhibitor of apoptosis. Mutations were observed in 24 (26.67%) patients; 16 patients exhibited mutations in UNC13D, 7 exhibited PRF1 mutations, and 1 exhibited monoallelic mutation in STX11. UNC13D c.2588G>A/p.G863D mutation was detected in 9 patients (10.00%) and in 4/210 controls (1.90%). This mutation was predicted to be pathogenic and it predominantly existed in the Chinese population. These findings suggest that impaired cytotoxic machinery may represent a predisposing factor for the development of lymphoma. Furthermore, these data describe a distinct mutation spectrum in Chinese patients with lymphoma, whereby UNC13D is the most frequently mutated gene. In addition, these findings suggest UNC13D c.2588G>A mutation is a founder mutation in Chinese patients.

  14. Mutations in LRRC50 predispose zebrafish and humans to seminomas.

    Directory of Open Access Journals (Sweden)

    Sander G Basten

    2013-04-01

    Full Text Available Seminoma is a subclass of human testicular germ cell tumors (TGCT, the most frequently observed cancer in young men with a rising incidence. Here we describe the identification of a novel gene predisposing specifically to seminoma formation in a vertebrate model organism. Zebrafish carrying a heterozygous nonsense mutation in Leucine-Rich Repeat Containing protein 50 (lrrc50 also called dnaaf1, associated previously with ciliary function, are found to be highly susceptible to the formation of seminomas. Genotyping of these zebrafish tumors shows loss of heterozygosity (LOH of the wild-type lrrc50 allele in 44.4% of tumor samples, correlating with tumor progression. In humans we identified heterozygous germline LRRC50 mutations in two different pedigrees with a family history of seminomas, resulting in a nonsense Arg488* change and a missense Thr590Met change, which show reduced expression of the wild-type allele in seminomas. Zebrafish in vivo complementation studies indicate the Thr590Met to be a loss-of-function mutation. Moreover, we show that a pathogenic Gln307Glu change is significantly enriched in individuals with seminoma tumors (13% of our cohort. Together, our study introduces an animal model for seminoma and suggests LRRC50 to be a novel tumor suppressor implicated in human seminoma pathogenesis.

  15. Hypothyroidism is a predisposing factor for fenofibrate-induced rhabdomyolysis--patient report and literature review.

    Science.gov (United States)

    Satarasinghe, R L; Ramesh, R; Riyaaz, A A A; Gunarathne, P A K G; de Silva, A P

    2007-01-01

    A literature survey reveals that both lipid lowering drugs - statins and fibrates--and hypothyroidism are documented causes of muscle disorders including rhabdomyolysis leading to acute renal failure. We describe a case of fenofibrate monotherapy (Lipicard) induced dialysis dependent acute renal failure in an undiagnosed hypothyroid patient which is the first case to be reported from Sri Lanka. We strongly recommend that all patients who are receiving statins and/or fibrates should be screened for occult hypothyroidism which seems to aggravate the muscle damage due to the above drugs, with or without other risk factors.

  16. Increased cerebrovascular pCO2 reactivity in migraine with aura--a transcranial Doppler study during hyperventilation

    DEFF Research Database (Denmark)

    Thomsen, L L; Iversen, Helle Klingenberg; Olesen, J

    1995-01-01

    cerebral artery was measured with transcranial Doppler. In each subject a pCO2 reactivity index (RI) was calculated as (delta Vmean/baseline Vmean)/delta pCO2. Interictally, patients with migraine with aura showed higher RI (p ANOVA and multiple range test) than controls, whereas migraineurs without......-nitroglycerin-provoked healthy controls (p > 0.05, ANOVA and multiple range test). The exaggerated response in migraine with aura might predispose for the characteristic changes in rCBF seen during attacks....

  17. Insufficiency Fractures After Pelvic Radiotherapy in Patients With Prostate Cancer

    International Nuclear Information System (INIS)

    Igdem, Sefik; Alco, Guel; Ercan, Tuelay; Barlan, Metin; Ganiyusufoglu, Kuersat; Unalan, Buelent; Turkan, Sedat; Okkan, Sait

    2010-01-01

    Purpose: To assess the incidence, predisposing factors, and clinical characteristics of insufficiency fractures (IF) in patients with prostate cancer, who received pelvic radiotherapy as part of their definitive treatment. Methods and Materials: The charts of 134 prostate cancer patients, who were treated with pelvic radiotherapy between 1998 and 2007 were retrospectively reviewed. IF was diagnosed by bone scan and/or CT and/or MRI. The cumulative incidence of symptomatic IF was estimated by actuarial methods. Results: Eight patients were identified with symptomatic IF after a median follow-up period of 68 months (range, 12-116 months). The 5-year cumulative incidence of symptomatic IF was 6.8%. All patients presented with lower back pain. Insufficiency fracture developed at a median time of 20 months after the end of radiotherapy and was managed conservatively without any need for hospitalization. Three patients were thought to have metastatic disease because of increased uptake in their bone scans. However, subsequent CT and MR imaging revealed characteristic changes of IF, avoiding any further intervention. No predisposing factors for development of IF could be identified. Conclusions: Pelvic IF is a rare complication of pelvic radiotherapy in prostate cancer. Knowledge of pelvic IF is essential to rule out metastatic disease and prevent unnecessary treatment, especially in a patient cohort with high-risk features for distant spread.

  18. Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.

    Science.gov (United States)

    Petersen, Sanne M; Dandanell, Mette; Rasmussen, Lene J; Gerdes, Anne-Marie; Krogh, Lotte N; Bernstein, Inge; Okkels, Henrik; Wikman, Friedrik; Nielsen, Finn C; Hansen, Thomas V O

    2013-10-03

    Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include disease-causing frame-shift, nonsense, and splicing mutations as well as large genomic rearrangements. However, a large number of mutations, including missense, silent, and intronic variants, are classified as variants of unknown clinical significance. Intronic MLH1, MSH2, or MSH6 variants were investigated using in silico prediction tools and mini-gene assay to asses the effect on splicing. We describe in silico and in vitro characterization of nine intronic MLH1, MSH2, or MSH6 mutations identified in Danish colorectal cancer patients, of which four mutations are novel. The analysis revealed aberrant splicing of five mutations (MLH1 c.588 + 5G > A, MLH1 c.677 + 3A > T, MLH1 c.1732-2A > T, MSH2 c.1276 + 1G > T, and MSH2 c.1662-2A > C), while four mutations had no effect on splicing compared to wild type (MLH1 c.117-34A > T, MLH1 c.1039-8 T > A, MSH2 c.2459-18delT, and MSH6 c.3439-16C > T). In conclusion, we classify five MLH1/MSH2 mutations as pathogenic, whereas four MLH1/MSH2/MSH6 mutations are classified as neutral. This study supports the notion that in silico prediction tools and mini-gene assays are important for the classification of intronic variants, and thereby crucial for the genetic counseling of patients and their family members.

  19. Effect of UGT2B7*2 and CYP2C8*4 polymorphisms on diclofenac metabolism.

    Science.gov (United States)

    Lazarska, Katarzyna E; Dekker, Stefan J; Vermeulen, Nico P E; Commandeur, Jan N M

    2018-03-01

    The use of diclofenac is associated with rare but severe drug-induced liver injury (DILI) in a very small number of patients. The factors which predispose susceptible patients to hepatotoxicity of diclofenac are still incompletely understood. Formation of protein-reactive metabolites by UDP-glucuronosyl transferases and cytochromes P450 is commonly considered to play an important role, as indicated by the detection of covalent protein adducts and antibodies in the serum of patients suffering from diclofenac-induced liver injury. Since no associations have been found with HLA-alleles, polymorphisms of genes encoding for proteins involved in the disposition of diclofenac may be important. Previous association studies showed that possession of the UGT2B7*2 and CYP2C8*4 alleles is more common in cases of diclofenac-induced DILI. In the present study, the metabolism of diclofenac by UGT2B7*2 and CYP2C8*4 was compared with their corresponding wild-type enzymes. Enzyme kinetic analysis revealed that recombinant UGT2B7*2 showed an almost 6-fold lower intrinsic clearance of diclofenac glucuronidation compared to UGT2B7*1. The mutant CYP2C8*4 showed approximately 35% reduced activity in the 4'-hydroxylation of diclofenac acyl glucuronide. Therefore, a decreased hepatic exposure to diclofenac acyl glucuronide is expected in patients with the UGT2B7*2 genotype. The increased risk for hepatotoxicity, therefore, might be the result from a shift to oxidative bioactivation to cytotoxic quinoneimines. Copyright © 2017 The Author(s). Published by Elsevier B.V. All rights reserved.

  20. Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients

    NARCIS (Netherlands)

    Segers, H.; Kersseboom, R.; Alders, M.; Pieters, R.; Wagner, A.; van den Heuvel-Eibrink, M. M.

    2012-01-01

    Introduction: In 9-17% of Wilms tumour patients a predisposing syndrome is present, in particular WT1-associated syndromes and overgrowth syndromes. Constitutional WT1 mutations or epigenetic changes on chromosome 11p15 have also been described in Wilms tumour patients without phenotypic

  1. A prospective study of prevalence and association of peripheral neuropathy in Indian patients with newly diagnosed type 2 diabetes mellitus

    Directory of Open Access Journals (Sweden)

    H K Gill

    2014-01-01

    Full Text Available Background: Diabetic peripheral neuropathy (DPN predisposes to foot ulceration and gangrene. It has been reported that DPN is lower in Indians relative to Caucasians. Studies among recent onset patients with type 2 diabetes mellitus (T2DM are very few. We studied the prevalence and risk factors of DPN in patients with newly diagnosed T2DM. Materials and Methods: We prospectively studied 195 consecutive patients over age 30 with a duration of diabetes ≤6 months. All underwent a clinical and biochemical evaluation and were screened for DPN using Neuropathy Symptom Score (NSS and Neuropathy Disability Score (NDS as well as the vibration perception threshold using a biothesiometer. We compared the prevalence of peripheral neuropathy (PN in 75 age- and sex-matched healthy controls. Results: The cases had a mean age of 47.6 ± 10.2 years (59% males and duration of symptoms of 5.9 ± 8.2 months prior to presentation. The overall prevalence of DPN was 29.2% [95% CI 22.8-35.7]. PN among matched control was 10.7% (95% CI 3.5-17.8. The prevalence of DPN showed an increasing trend with age (trend chi-square 11.8, P = 0.001. Abnormal vibration perception threshold was present in 43.3% (95% CI 36.3-50.3 of cases and had a significant correlation with NDS (P = 0.000. Abnormal monofilament testing was present in 6.1% of cases (95% CI 2.7- 9.5. A logistic regression analysis showed that DPN was independently associated with age (P = 0.002 and duration of diabetes prior to presentation (P = 0.02 but not with body mass index, plasma glucose, or HbA1c. Conclusions: Our study showed high prevalence of PN in recently diagnosed patients with T2DM, which was independently associated with age and duration of symptoms of diabetes prior to the diagnosis. Screening for DPN at diagnosis of diabetes is warranted, especially among older subjects.

  2. Type 1 diabetes in children is not a predisposing factor for oral yeast colonization.

    Science.gov (United States)

    Costa, Ana L; Silva, Branca M A; Soares, Rui; Mota, Diana; Alves, Vera; Mirante, Alice; Ramos, João C; Maló de Abreu, João; Santos-Rosa, Manuel; Caramelo, Francisco; Gonçalves, Teresa

    2017-06-01

    Type 1 diabetes mellitus (T1D) is considered a risk factor associated with oral yeast infections. The aim of this study was to evaluate the yeast oral carriage (in saliva and mucosal surface) of children with T1D and potential relation with host factors, particularly the subset of CD4+ T cells. Yeasts were quantified and identified in stimulated saliva and in cheek mucosal swabs of 133 diabetic T1D and 72 healthy control subjects. Salivary lymphocytes were quantified using flow cytometry. The presence of yeasts in the oral cavity (60% of total patients) was not affected by diabetes, metabolic control, duration of the disease, salivary flow rate or saliva buffer capacity, by age, sex, place of residence, number of daily meals, consumption of sweets or frequency of tooth brushing. Candida albicans was the most prevalent yeast species, but a higher number of yeast species was isolated in nondiabetics. T1D children with HbA1c ≤ 7.5 (metabolically controlled) presented higher number of CD4+ T salivary subsets when compared with the other groups of children (non-diabetic and nonmetabolically controlled) and also presented the highest number of individuals without oral yeast colonization. In conclusion, T1D does not predisposes for increased oral yeast colonization and a higher number of salivary CD4+T cells seems to result in the absence of oral colonization by yeasts. © The Author 2016. Published by Oxford University Press on behalf of The International Society for Human and Animal Mycology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  3. Neuroticism and maladaptive coping in patients with functional somatic syndromes

    DEFF Research Database (Denmark)

    Pedersen, Heidi Frølund; Frostholm, Lisbeth; Jensen, Jens Søndergaard

    2016-01-01

    Objectives. The cognitive-behavioural model of functional somatic syndromes (FSS) proposes a multifactorial aetiology consisting of predisposing, precipitating and perpetuating factors. In this study, we sought to investigate three questions that can be drawn from this model: (1) Do patients...... with FSS show high levels of neuroticism? (2) Does neuroticism affect physical health and social functioning, either directly or indirectly through maladaptive coping? (3) Does more adaptive coping mediate the effect of cognitive-behavioural therapy (CBT) on outcome? Design. Secondary analysis....... Reduction in symptom catastrophizing during group CBT partially mediated its long-term effect. Conclusions. The results give support to a generic cognitive-behavioural model of FSS. Targeting symptom catastrophizing may be an essential component in CBT for patients with FSS, regardless of their specific...

  4. cryptococcus meningitis in a cohort of hiv positive kenyan patients

    African Journals Online (AJOL)

    the acquired immunodeficiency syndrome. N. Engl. J. Med. 1997; 337:15-21. 7. Khanna N., Chandramuki A., Desai A., et al. Cryptococcol infections of the central nervous system: An analysis of predisposing factors, laboratory findings and outcome in patients from South India with special reference to HIV infection. J. Med.

  5. Chronic Pain in Multiple Sclerosis Patients: Utility of Sensory Quantitative Testing in Patients with Fibromyalgia Comorbidity.

    Science.gov (United States)

    Pompa, Alessandra; Clemenzi, Allessandro; Troisi, Elio; Pace, Luca; Casillo, Paolo; Catani, Sheila; Grasso, Maria Grazia

    2015-01-01

    Lower thermal and discomfort thresholds may predispose multiple sclerosis (MS) patients to chronic pain, but a possible effect of fibromyalgia (FM) comorbidity has never been investigated. Aims were to investigate the thermal and discomfort thresholds in the evaluation of pain intensity between MS patients with FM (PFM+) and MS patients with pain not associated to FM (PFM-). One hundred thirty three MS patients were investigated for chronic pain. FM was assessed according to the 1990 ACR diagnostic criteria. An algometer was used to measure the thresholds in the patients and 60 matched healthy subjects. Chronic pain was present in 88 (66.2%) patients; 12 (13.6%) had neuropathic pain, 22 (17.3%) were PFM+ and 65 (48.9%) PFM-. PFM+ were predominantly female (p = 0.03) and had a greater EDSS (p = 0.01) than NoP; no other significant differences emerged than PFM-. The thresholds were lower in MS patients than controls (p < 0.01), mainly in the PFM+. FM severity influenced the thermal threshold (p < 0.001), while the female gender influenced the discomfort threshold (p < 0.001). Thermal and discomfort thresholds were lower in patients than controls and were the lowest in PFM+. Their more severely impaired thermal threshold supports a neurophysiological basis of such association. © 2015 S. Karger AG, Basel.

  6. Detection of hepatitis G virus-RNA (HGV-RNA) in serum of patients with HBV hepatitis

    International Nuclear Information System (INIS)

    Zhu Jingfei; Hang Shangrong; Chen Min; Pu Xiangke; Wang Yongzhong; Zhou Guoping

    2007-01-01

    Objective: To investigate the incidence of HGV infection in patients with HBV hepatitis and any possible adverse effect of the superinfection. Methods: Serum HGV-RNA expression was examined with PCR in 1104 patients with HBV hepatitis and 251 controls. Results: The positive rate of HGV-RNA in HBV hepatitis patients was not significantly different from that in controls (3.17% vs 2.79%, P>0.05). Among the patients with HBV hepatitis, HGV-RNA positive rate in patients with chronic hepatitis was significantly higher than that in patients with acute hepatitis (4.78% vs 0.96, P<0.05). Conclusion: HGV infection might be presented as non-symptomatic carriers or other mild form of hepatitis. The incidence of HGV infection was not especially high in HBV hepatitis patients, however, concomitant HGV and HBV infection might predispose to development of chronicity. (authors)

  7. Risk factors predisposing to congenital heart defects

    International Nuclear Information System (INIS)

    Ul Haq, Faheem; Jalil, Fatima; Hashmi, Saman; Jumani, Maliha Iqbal; Imdad, Aamer; Jabeen, Mehnaz; Hashmi, Javad Tauseef; Irfan, Furqan Bin; Imran, Muhammad; Atiq, Mehnaz

    2011-01-01

    Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal recessive pattern of inheritance of some congenital heart defects. This study was done to find out the risk factors for CHD. A case-control study was done on pediatric patients at a tertiary care hospital, Aga Khan University Hospital, located in Karachi, Pakistan. A total of 500 patients, 250 cases and 250 controls were included in the study. Amongst the 250 cases (i.e. those diagnosed with CHD), 122 patients (48.8%) were born of consanguineous marriages while in the controls (i.e. non-CHD) only 72 patients (28.9%) showed a consanguinity amongst parents. On multivariate analysis, consanguinity emerged as an independent risk factor for CHD; adjusted odds ratio 2.59 (95% C. I. 1.73 - 3.87). Other risk factors included low birth weight, maternal co-morbidities, family history of CHD and first born child. On the other hand, medications used by the mother during the index pregnancy, maternal age and gender of the child did not significantly increase the risk of developing CHD. Analyses of our results show that parental consanguinity, family history of CHD, maternal co-morbidities, first born child and low birth weight are independent risk factors for CHD

  8. Heart rate variability in patients with mitral stenosis: A study of 20 cases from King Abdulaziz Univ. Hospital

    International Nuclear Information System (INIS)

    Al-Hazimi, A.; Al-Ama, N.; Marouf, M.

    2002-01-01

    Left atrial enlargement in mitral stenosis predisposes to atrial fibrillation (AF). Analysis of heart rate variability (HRV) prior to the onset of an arrhythmia may show alterations in autonomic balance that are known to predispose to the development of AF. The aim of this study was to determine whether HRV in patients with rheumatic mitral stenosis (MS) is abnormal in comparison to normal controls, and to find the relationship between the left atrial size and HRV in patients with MS in sinus rhythm in AF. A series of 24-hour ambulatory Holter electrocardiogram recordings were obtained for 10 consecutive, newly diagnosed untreated subjects with pure mitral stenosis in sinus rhythm, 10 with mitral stenosis complicated by atrial fibrillation and 10 age-matched normal controls. Digitized records were processed using time domain and power spectral analysis. In patients with mitral stenosis in sinus rhythm, we observed significant decrease of the standard deviation of RR intervals (SDRR), as well as of the root mean square of successive RR interval differences (RMSSD) and Edinburgh index (sNN50), while in patients with AF, the RMSSD and sNN50 were much larger than those in normal. The areas under all spectral bands were markedly increased in patients with AF compared with normal. HRV measures were independent of atrial size in both groups. Decreased HRV in mitral stenosis patients with sinus rhythm suggests increased sympathetic activity in patients prone to atrial fibrillation, while marked increased of HRV in patients with AF may indicate that parasympathetic activity modulates the intrinsic behavior of the atrioventricular node during atrial fibrillation. The evaluation of HRV may be a useful tool for the identification of patients predisposed to AF. (author)

  9. Analysis of adverse events and predisposing factors in voluntary and replacement whole blood donors: A study from north India

    OpenAIRE

    Agnihotri, Naveen; Marwaha, Neelam; Sharma, Ratti R.

    2012-01-01

    Background: Lack of awareness and community motivation, compounded with fragmented blood transfusion services in our country, Often leads to shortage of blood. Donor recruitment and retention are essential for ensuring adequate blood supply. However, adverse events (AEs) in donors have a negative impact on donor return. Aims and Objectives: The present study was aimed to assess the frequency of AEs in whole blood donors and analyze the predisposing factors for AEs. Material and Methods: The s...

  10. Transverse colon volvulus in neurologicaly imparied patient as an emergency surgical condition: A case report.

    Science.gov (United States)

    Miličković, Maja; Savić, Đorđe; Stanković, Nikola; Vukadin, Miroslav; Božić, Dejana

    2017-01-01

    Transverse colon volvulus is an uncommon cause of bowel obstruction in general. Predisposing factors are mental retardation, dysmotility disorders, chronic constipation and congenital megacolon. We presented transverse colon volvulus in a 16-year-old boy with cerebral palsy. Chronic constipation in neurologicaly impaired patient was a risk factor predisposing to volvulus. The patient was admitted to the hospital with enormous abdominal distension and acute respiratory insufficiency. A boy was emergently taken to the operating room for exploratory laparotomy. During the surgery, a 360º clockwise volvulus of the transverse colon was found. After reduction of volvulus, an enormous transverse colon was resected and colostomy was formed. In the postoperative period, despite the good functioning of stoma and intraabdominal normotension, numerous and long lasting respiratory problems developed. The patient was discharged from our institution after 8 months. Though very rare in pediatric group, the possibility of a transverse colon volvulus must be considered in the differential diagnosis of acute large bowel obstruction.

  11. Adrenal Vein Catecholamine Levels and Ratios: Reference Intervals Derived from Patients with Primary Aldosteronism

    NARCIS (Netherlands)

    Sze, C.W.C.; O'Toole, S.M.; Tirador, R.K.; Akker, S.A; Matson, M.; Perry, L.; Druce, M.R.; Dekkers, T.; Deinum, J.; Lenders, J.W.M.; Eisenhofer, G.; Drake, W.M.

    2017-01-01

    Phaeochromocytoma localisation is generally reliably achieved with modern imaging techniques, particularly in sporadic cases. On occasion, however, there can be diagnostic doubt due to the presence of bilateral adrenal abnormalities, particularly in patients with mutations in genes predisposing them

  12. Necrotizing Sialometaplasia of the Hard Palate in a Patient Treated with Topical Nonsteroidal Anti-Inflammatory Drug

    Directory of Open Access Journals (Sweden)

    Alessandro Gatti

    2016-01-01

    Full Text Available Necrotizing sialometaplasia is a rare, benign, self-limiting, necrotizing process involving the minor salivary glands, mainly the mucoserous glands of the hard palate. It is thought to be the result of an ischemic event of the vasculature supplying the salivary gland lobules. Some predisposing factors such as smoking, use of alcohol, denture wearing, recent surgery, traumatic injuries, respiratory infections, systemic diseases bulimia, and anorexia have been described. Herein we present a case of necrotizing sialometaplasia of the hard palate in a patient without known predisposing factors, in our opinion, resulting from the use of topical anti-inflammatory drug. After diagnosis, the patient underwent treatment with chlorhexidine gluconate and a full palatal acrylic guard to protect the exposed bone from food residues during meals. After the sixth week the lesion regressed.

  13. Necrotizing Sialometaplasia of the Hard Palate in a Patient Treated with Topical Nonsteroidal Anti-Inflammatory Drug.

    Science.gov (United States)

    Gatti, Alessandro; Broccardo, Emanuele; Poglio, Giuseppe; Benech, Arnaldo

    2016-01-01

    Necrotizing sialometaplasia is a rare, benign, self-limiting, necrotizing process involving the minor salivary glands, mainly the mucoserous glands of the hard palate. It is thought to be the result of an ischemic event of the vasculature supplying the salivary gland lobules. Some predisposing factors such as smoking, use of alcohol, denture wearing, recent surgery, traumatic injuries, respiratory infections, systemic diseases bulimia, and anorexia have been described. Herein we present a case of necrotizing sialometaplasia of the hard palate in a patient without known predisposing factors, in our opinion, resulting from the use of topical anti-inflammatory drug. After diagnosis, the patient underwent treatment with chlorhexidine gluconate and a full palatal acrylic guard to protect the exposed bone from food residues during meals. After the sixth week the lesion regressed.

  14. Presence of DQ2.2 Associated with DQ2.5 Increases the Risk for Celiac Disease

    Science.gov (United States)

    Almeida, Lucas Malta; Gandolfi, Lenora; Pratesi, Riccardo; Uenishi, Rosa Harumi; de Almeida, Fernanda Coutinho; Selleski, Nicole

    2016-01-01

    Background. Celiac disease (CD) is a genetically determined immune-mediated disorder in which gluten immunogenic peptides are presented to CD4 T cells by HLA-DQ2.5, DQ8, DQ2.2, and their combinations. Our aim is to establish a risk gradient for celiac disease based on HLA-DQ profile in a brazilian representative population and the relevance of DQ2.2 in celiac disease development. Materials and Methods. 237 celiac patients and 237 controls (both groups with 164 females and 73 males) were included. All samples were tested for the presence of predisposing HLA-DQ alleles using the PCR-SSP method. Results were considered significant when p Disease risk was expressed as 1 : N for each HLA-DQ category described at this study. Results. DQ2.5 and/or DQ8 were detected in 224 celiac patients (94.5%) and 84 controls (35.4%). Eight celiac patients (3.4%) and 38 controls (16%) disclosed only DQ2.2. Even though DQ2.222 or β2/x) showed a low CD risk of 1 : 251 and 1 : 550, respectively, the genotype DQ2.5/DQ2.222) showed high CD risk of 1 : 10 (p disease risk gradient ranged from 1 : 3014 to 1 : 7. Conclusion. Our study allowed the determination of a risk gradient for celiac disease development in at-risk population, showing that DQ2.2 variant was relevant when associated with DQ2.5. PMID:28042478

  15. Patient factors associated with guideline-concordant treatment of anxiety and depression in primary care.

    NARCIS (Netherlands)

    Prins, M.A.; Verhaak, P.F.; Smolders, M.; Laurant, M.G.H.; Meer, K. de; Spreeuwenberg, P.; Marwijk, H.W.J. van; Penninx, B.W.J.H.; Bensing, J.M.

    2010-01-01

    OBJECTIVE: To identify associations of patient characteristics (predisposing, enabling and need factors) with guideline-concordant care for anxiety and depression in primary care. DESIGN: Analysis of data from the Netherlands Study of Depression and Anxiety (NESDA). PARTICIPANTS: Seven hundred and

  16. Patient factors associated with guideline-concordant treatment of anxiety and depression in primary care

    NARCIS (Netherlands)

    Prins, M.A.; Verhaak, P.; Smolders, M.; Laurant, M.G.H.; van der Meer, K; Spreeuwenberg, P.; van Marwijk, H.W.J.; Penninx, B.W.J.H.; Bensing, J.M.

    2010-01-01

    Objective: To identify associations of patient characteristics (predisposing, enabling and need factors) with guideline-concordant care for anxiety and depression in primary care. Design: Analysis of data from the Netherlands Study of Depression and Anxiety (NESDA). Participants: Seven hundred and

  17. Periodontal Treatment and the Risks of Cardiovascular Disease in Patients with Type 2 Diabetes: A Retrospective Cohort Study.

    Science.gov (United States)

    Peng, Chiung-Huei; Yang, Yi-Sun; Chan, Kuei-Chuan; Kornelius, Edy; Chiou, Jeng-Yuan; Huang, Chien-Ning

    2017-01-01

    Objective Periodontal disease may predispose individuals to cardiovascular disease (CVD). Diabetes mellitus, especially in patients with severe periodontitis, increases the risk of CVD mortality. However, the outcomes of periodontal therapy vary among the different treatment modalities. We aim to investigate whether periodontal treatment could influence the occurrence of CVD in patients with type 2 diabetes and periodontal problems. Methods A retrospective cohort study was conducted based on a dataset released by Taiwan National Health Insurance (NHI). The dataset was composed of randomly sampled, newly diagnosed diabetic patients who received insurance benefits from 1999 to 2001; patients who were younger than 18 years of age or who already had CVD before 1999 were excluded. The NHI code was used to identify the treatments, including subgingival curettage and flap operations. The patients' demographic variables were matched using a 1:4 propensity score. All of the subjects were followed up until the onset of CVD, or December 31, 2011. A Cox proportional hazards regression analysis was performed to evaluate the effects of periodontal treatment on the rates of myocardial infarction, heart failure and stroke. Results Three thousand thirty-nine and 12,156 diabetic subjects were classified into the advanced periodontal treatment group and the non-advanced periodontal treatment group, respectively. The Cox proportional hazards analysis revealed that although the overall incidence of CVD was not significantly improved (Hazard ratio, HR 0.95; 95% CI 0.90-1.01), advanced periodontal treatment reduced the rates of myocardial infarction (HR 0.92; 95% CI 0.85-0.99) and heart failure (HR 0.60; 95% CI 0.45-0.80). There was no significance difference in the incidence of stroke (HR 0.95; 95% CI 0.85-1.06). Conclusion Advanced periodontal therapy lowers the rate of CVD, especially myocardial infarction and heart failure. Dental management has a beneficial effect on the health of

  18. Descriptive study of 20 patients with schizophrenia in Boyacá, Colombia Schizophrenia = Estudio descriptivo de una muestra de pacientes con esquizofrenia residentes en el departamento de Boyacá, Colombia Zayda Lorena Corredor Rozo1 , Mayely Paola Sánchez Espinosa1 , Milena Rondón Lagos2 , Paola Liliana Páez Rojas3 , Carolina Cortés Duque4 , Ruth Maribel Forero Castro5 RESUMEN

    Directory of Open Access Journals (Sweden)

    Zayda Lorena Corredor Rozo

    2013-07-01

    Full Text Available Schizophrenia is a multifactorial disease with high genetic heterogeneity and complex inheritance. In Boyacá, Colombia, we studied a group of 20 schizo- phrenic patients (16 men and four women in order to establish their socio-demographic and clinical characteristics, and the genetic and predisposing factors. Cytogenetic studies and a descriptive anal- ysis of qualitative and quantitative variables were done. More often the disease started in young adults (average age of initiation: 22.5 years. The predomi- nant subtype (8/20 was paranoid schizophrenia, with progressive start (14/20. Predisposing factors were found in 15 patients, namely: physical in nine, social in five and economic in one. All cariotypes were normal. Clinical features did not associate with either the sociodemographic characteristics or the genetic and predisposing factors; this is evidence of the clinical heterogeneity of schizophrenia. Patients and their families received genetic counseling and explanations on the results, the possibility of recur- rences and the risk of suffering the disease when a relative is affected by it. Further and larger studies are required in order to determine if the factors eval- uated in this work have influence on the develop- ment of the disease.

  19. Queratitis infecciosa no viral: factores predisponentes, agentes etiológicos y diagnóstico de laboratorio Non viral infectious keratitis: predisposing factors, etiologic agents and laboratory diagnosis

    Directory of Open Access Journals (Sweden)

    Federico Nicola

    2005-12-01

    Full Text Available Las queratitis infecciosas poseen una elevada morbilidad, poniendo en riesgo la visión en casos graves. Dada la eficaz protección que brinda el epitelio corneal, para que ocurra una infección se requiere la presencia de factores condicionantes. El principal predisponente para las queratitis infecciosas es el uso de lentes de contacto, seguido por traumatismos y cirugías oculares y luego diversas afecciones locales o generales. Los agentes etiológicos abarcan una enorme diversidad de microorganismos, incluyendo bacterias, micobacterias, virus, hongos y parásitos. Para poder instaurar un tratamiento acotado se necesita un diagnóstico etiológico, lo que requiere una correcta toma de muestra y un exhaustivo análisis microbiológico.Infectious keratitis cause significant morbidity and, if it is not promptly and appropriately treated, can lead to severe ocular disability. Almost all cases of keratitis are associated to predisposing conditions. In occident, the main risk factor is contact lens wear, but previous ocular surgery or trauma are also important, as well as various ocular surface diseases. An enormous diversity of etiologic agents for infectious keratitis exist, including virus, bacteria, mycobacteria, fungi and parasites. This review provides literature and personal based information about main predisposing factors, etiologic agents and pathophysiology of infectious keratitis, excluding those of viral origin. Focus is made on microbiologic procedures, describing stains and media that should be used, and highlighting their utility. A special mention on particular situations is made, including laboratory diagnosis of Acanthamoeba keratitis, utility of lens cases analysis, keratitis in patients with previous treatment, as well as molecular biology techniques described in ophthalmology.

  20. Predisposing, enabling, and need factors associated with high service use in a public mental health system.

    Science.gov (United States)

    Lindamer, Laurie A; Liu, Lin; Sommerfeld, David H; Folsom, David P; Hawthorne, William; Garcia, Piedad; Aarons, Gregory A; Jeste, Dilip V

    2012-05-01

    The purpose of this study was twofold: (1) To investigate the individual- and system-level characteristics associated with high utilization of acute mental health services according to a widely-used theory of service use-Andersen's Behavioral Model of Health Service Use -in individuals enrolled in a large, public-funded mental health system; and (2) To document service utilization by high use consumers prior to a transformation of the service delivery system. We analyzed data from 10,128 individuals receiving care in a large public mental health system from fiscal years 2000-2004. Subjects with information in the database for the index year (fiscal year 2000-2001) and all of the following 3 years were included in this study. Using logistic regression, we identified predisposing, enabling, and need characteristics associated with being categorized as a single-year high use consumer (HU: >3 acute care episodes in a single year) or multiple-year HU (>3 acute care episodes in more than 1 year). Thirteen percent of the sample met the criteria for being a single-year HU and an additional 8% met the definition for multiple-year HU. Although some predisposing factors were significantly associated with an increased likelihood of being classified as a HU (younger age and female gender) relative to non-HUs, the characteristics with the strongest associations with the HU definition, when controlling for all other factors, were enabling and need factors. Homelessness was associated with 115% increase in the odds of ever being classified as a HU compared to those living independently or with family and others. Having insurance was associated with increased odds of being classified as a HU by about 19% relative to non-HUs. Attending four or more outpatient visits was an enabling factor that decreased the chances of being defined as a HU. Need factors, such as having a diagnosis of schizophrenia, bipolar disorder or other psychotic disorder or having a substance use disorder

  1. Relationship of the FKBP5 C/T polymorphism with dysfunctional attitudes predisposing to depression.

    Science.gov (United States)

    Suzuki, Akihito; Matsumoto, Yoshihiko; Sadahiro, Ryoichi; Enokido, Masanori; Goto, Kaoru; Otani, Koichi

    2014-08-01

    FK506-binding protein 51 (FKBP5) is a co-chaperone of the glucocorticoid receptor, and plays an important role in the negative feedback regulation of the hypothalamic-pituitary-adrenal axis. The C/T single nucleotide polymorphism in the intron 2 of the FKBP5 gene affects cortisol secretion, and has been implicated in the pathophysiology of depression. In this study, the relationship of the FKBP5 C/T polymorphism with dysfunctional attitudes predisposing to depression was examined. The subjects were 300 healthy Japanese. The FKBP5 genotypes were determined by a real-time PCR and cycling probe technology for SNP typing. Dysfunctional attitudes were assessed by the 24-item version of the Dysfunctional Attitude Scale (DAS-24), which has the Achievement, Self-control, and Dependency subscales. DAS-24 total scores were significantly higher in the group with the T allele than in that without this allele (p=0.001). Regarding the subscales, scores of the Achievement (p=0.003) and Self-control (p=0.009) subscales, but not those of the Dependency subscale, were significantly higher in the former group than in the latter group. The present study suggests that the FKBP5 C/T polymorphism is implicated in formation of dysfunctional attitudes, especially those about achievement and self-control. Copyright © 2014 Elsevier Inc. All rights reserved.

  2. Radiation-induced dementia in patients cured of brain metastases

    International Nuclear Information System (INIS)

    DeAngelis, L.M.; Delattre, J.Y.; Posner, J.B.

    1989-01-01

    When a patient with cancer develops a brain metastasis, death is usually imminent, but aggressive treatment in some patients with limited or no systemic disease yields long-term survival. In such patients, delayed deleterious effects of therapy are particularly tragic. We report 12 patients who developed delayed complications of whole brain radiotherapy (WBRT) given as sole treatment (4 patients) or in combination with surgical resection (8 patients). Within 5 to 36 months (median, 14) all patients developed progressive dementia, ataxia, and urinary incontinence causing severe disability in all and leading to death in 7. No patient had tumor recurrence when neurologic symptoms began. Cortical atrophy and hypodense white matter were identified by CT in all. Contrast-enhancing lesions were seen in 3 patients; 2 of the lesions yielded radionecrosis on biopsy. Autopsies on 2 patients revealed diffuse chronic edema of the hemispheric white matter in the absence of tumor recurrence. Corticosteroids and ventriculoperitoneal shunt offered significant but incomplete improvement in some patients. The total dose of WBRT was only 2,500 to 3,900 cGy, but daily fractions of 300 to 600 cGy were employed. We believe that these fractionation schedules, several of which are used commonly, predispose to delayed neurologic toxicity, and that more protracted schedules should be employed for the safe and efficacious treatment of good-risk patients with brain metastases. The incidence of WBRT-induced dementia was only 1.9 to 5.1% in the 2 populations reviewed here; however, this underestimates the incidence because only severely affected patients could be identified from chart review

  3. Discrete deposition of hydroxyapatite nanoparticles on a titanium implant with predisposing substrate microtopography accelerated osseointegration

    International Nuclear Information System (INIS)

    Nishimura, Ichiro; Huang Yuhong; Butz, Frank; Ogawa, Takahiro; Lin, Audrey; Wang, Chiachien Jake

    2007-01-01

    We report here a new versatile method to deposit discrete hydroxyapatite (HA) nanoparticles on a titanium (Ti) implant with predisposing substrate microtopography, which exhibited an unexpectedly robust biological effect. Commercially pure Ti substrates were treated with 3-aminopropyltriethoxysilane, on which HA nanoparticles (20 nm) were deposited and chemically bonded to TiO 2 . The HA deposition rate was linearly related to the treatment time and HA nanoparticles were deposited on up to 50% of the substrate surface. As a result, the discrete deposition of HA nanoparticles generated novel 20-40 nm nanotopography on the Ti substrate with microtopography that was smooth (turned) or roughened by double acid etching (DAE). The experimental implants with or without HA nanoparticles were surgically placed in rat femur and an implant push-in test was performed after two weeks of healing. The deposition of HA nanoparticles on the DAE surface increased the mechanical withstanding load by 129% and 782% as compared to the control DAE and turned implants, respectively. Micro-computed tomography-based 3D bone morphometry revealed equivalent bone volumes around the DAE implant with or without HA nanoparticles. These data suggest that the discrete deposition of HA nanoparticles accelerates the early osseointegration process, likely through increased shear bonding strengths

  4. Discrete deposition of hydroxyapatite nanoparticles on a titanium implant with predisposing substrate microtopography accelerated osseointegration

    Energy Technology Data Exchange (ETDEWEB)

    Nishimura, Ichiro [UCLA School of Dentistry, Weintraub Center for Reconstructive Biotechnology and Division of Advanced Prosthodontics, Biomaterials and Hospital Dentistry, Los Angeles, CA (United States); Huang Yuhong [Chemat Technology, Incorporated, Northridge, CA (United States); Butz, Frank [UCLA School of Dentistry, Weintraub Center for Reconstructive Biotechnology and Division of Advanced Prosthodontics, Biomaterials and Hospital Dentistry, Los Angeles, CA (United States); Ogawa, Takahiro [UCLA School of Dentistry, Weintraub Center for Reconstructive Biotechnology and Division of Advanced Prosthodontics, Biomaterials and Hospital Dentistry, Los Angeles, CA (United States); Lin, Audrey [UCLA School of Dentistry, Weintraub Center for Reconstructive Biotechnology and Division of Advanced Prosthodontics, Biomaterials and Hospital Dentistry, Los Angeles, CA (United States); Wang, Chiachien Jake [UCLA School of Dentistry, Weintraub Center for Reconstructive Biotechnology and Division of Advanced Prosthodontics, Biomaterials and Hospital Dentistry, Los Angeles, CA (United States)

    2007-06-20

    We report here a new versatile method to deposit discrete hydroxyapatite (HA) nanoparticles on a titanium (Ti) implant with predisposing substrate microtopography, which exhibited an unexpectedly robust biological effect. Commercially pure Ti substrates were treated with 3-aminopropyltriethoxysilane, on which HA nanoparticles (20 nm) were deposited and chemically bonded to TiO{sub 2}. The HA deposition rate was linearly related to the treatment time and HA nanoparticles were deposited on up to 50% of the substrate surface. As a result, the discrete deposition of HA nanoparticles generated novel 20-40 nm nanotopography on the Ti substrate with microtopography that was smooth (turned) or roughened by double acid etching (DAE). The experimental implants with or without HA nanoparticles were surgically placed in rat femur and an implant push-in test was performed after two weeks of healing. The deposition of HA nanoparticles on the DAE surface increased the mechanical withstanding load by 129% and 782% as compared to the control DAE and turned implants, respectively. Micro-computed tomography-based 3D bone morphometry revealed equivalent bone volumes around the DAE implant with or without HA nanoparticles. These data suggest that the discrete deposition of HA nanoparticles accelerates the early osseointegration process, likely through increased shear bonding strengths.

  5. Frequency and predisposing factors of leg cramps in pregnancy: a prospective clinical trial

    Directory of Open Access Journals (Sweden)

    Sohrabvand F

    2009-12-01

    Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Leg cramp is the painful contraction of the muscles that often occurs at night. Pregnancy is the most common cause of muscle cramps that usually occur in the second trimester of pregnancy. Although the reasons of the spasms had not been determined, the imbalance between the absorption and elimination of serum electrolytes such as Ca, Mg and potassium and also insufficiency of some vitamins and probably the changes in activities of motor neurons of spinal cord, can be the source of these problems. The aim of this study was the evaluation of frequency and predisposing factors of leg cramps."n"nMethods: In a cross sectional descriptive analytic study, a group of 400 women in the third trimester of pregnancy were asked to record the symptoms of leg cramp. Their education level and job recorded and their total serum level of Ca and Mg was measured in the first visit. Exclusion criteria included systemic medical conditions such as thyroid disease, diabetes, osteoporosis and prenatal disorders such as gestational diabetes mellitus and preeclampsia and patient cooperation."n"nResults: In our study the prevalence of leg cramp was 54.75%. There was a statistically significant relationship between leg cramp and serum

  6. Radiologic and tomographic presentation of pneumatosis intestinalis in a patient with mesenteric ischemia

    International Nuclear Information System (INIS)

    Antunes, Luciano Magrini; Medeiros, Sergio Cainelli; Fraga, Rafael; Friedrich, Mariangela Gheller; Abreu, Marcelo; Furtado, Alvaro Porto Alegre

    1998-01-01

    The authors report a case of bowel infarction consequent to sudden occlusion of the superior mesenteric artery, with classical clinical and radiological presentation. The outcome, death of the patient, exemplified the usual difficulty in the early diagnosis. It is important, therefore, the urgent use of arteriography in patients with suspection of mesenteric ischemia, because the time of vascular injury predisposes to necrosis, the main prognostic factor. (author)

  7. Contribution of germline TP53 variants and assessment of HER-2 status among young breast cancer patients in Malaysia

    Directory of Open Access Journals (Sweden)

    Shao Yan Lau

    2017-12-01

    Full Text Available Background: Li-Fraumeni Syndrome (LFS is caused by a mutation in the TP53 tumour suppressor gene. This rare hereditary condition predisposes individuals to an increased risk of cancers including breast cancer in women at a relatively young age, which accounts for nearly 25%–30% of all LFS‑associated cancers. Studies have shown that breast tumours in women with a germline TP53 deleterious variants are associated with a human epidermal growth factor receptor 2 (HER2-positive phenotype. Taken together, this study aimed to investigate the contribution of germline TP53 variants and its association with tumour HER-2 status in a cohort of young women with breast cancer. Methods: From 2002 to 2017, 4048 women with breast cancer treated at University Malaya Medical Centre or Sime Darby Medical Centre participated in the Malaysian Breast Cancer Genetics Study. Of which, 87 patients were diagnosed before 30 years of age. All patients were analysed for germline TP53 single nucleotide variants, small insertions or deletions by amplicon‑based targeted sequencing and validated by Sanger sequencing. DNA from patients who tested negative for sequencing were subsequently evaluated for the presence of TP53 exon deletions or duplications by multiplex ligation‑dependent probe amplification. HER-2 status of breast tumours was defined by immunohistochemistry, fluorescence in situ hybridisation and/or silver in situ hybridisation. Results: 5 distinct TP53 variants were detected in 5 individuals. 3 out of 5 TP53 variants were classified as frameshift mutations, one nonsense mutation and one in-frame duplication. Variants in other genes were detected in 17 individuals. No large genomic rearrangements were detected in the remaining 65 sequencing-negative patients. The assessment of HER-2 status will be presented. Conclusions: Our results suggest that alterations in TP53 gene were identified in approximately 5.7% (5/87 of this cohort of young women with breast

  8. Shoulder complaints in patients with reflex sympathetic dystrophy of the upper extremity.

    Science.gov (United States)

    Veldman, P H; Goris, R J

    1995-03-01

    Five hundred forty-one patients with reflex sympathetic dystrophy (RSD) of the upper extremity were prospectively studied. One hundred fifteen patients complained of pain and/or limited range of motion in the shoulder. Shoulder complaints more often occurred in women (p = .01); age and etiology were not different from patients with RSD without shoulder complaints. Physical examination showed a tendinitis of one or both tendons of the biceps muscle in 109 patients. Seventy one patients were treated with local injection of bupivacaine followed by methylprednisolone. This resulted in permanent relief of complaints in 34 patients, temporary or moderate relief in 31, no difference in 3, increase of complaints in 1 patient, and in 2 patients results were not documented. We conclude that shoulder complaints in RSD occur in a minority of patients and more often in female patients. There are no predisposing factors. The pathophysiologic mechanism for developing shoulder complaints remains unknown. In most cases complaints can be attributed to a bicipital tendinitis for which local injection of bupivacaine followed by prednisolone are both diagnostic and therapeutic.

  9. Prevalence and fungal profile of pulmonary aspergillosis in immunocompromised and immunocompetent patients of a tertiary care hospital

    Directory of Open Access Journals (Sweden)

    Prakash Ved, Mishra Prem P, Verma Shashi K, Sinha Shivani, Sharma Mahendra

    2014-03-01

    Full Text Available Background: Aspergillus is a fungus which may present an array of pulmonary manifestations, depending on the patient’s immunological and physiological state. Although the incidence of pulmonary aspergillosis occurs primarily in immunocompromised patients but the incidence is also rising in immunocompetent individuals, especially in developing countries. Aim: The objective of the study was to determine the prevalence and predisposing factors of pulmonary aspergillosis along with species identification. Materials and Methods: One hundred and three patients admitted to the Department of Chest and Tuberculosis and in the Department of Medicine from Jan 2012 to Jan 2013 were included in this study. The patients were epitomized on the basis of clinical signs and symptoms, physical examination, chest radiography, CT scans, histopathological examination, bronchoscopy and fungal examination including potassium hydroxide mount, fungal culture of sputum and bronchoalveolar lavage. Species identification was done by colony characteristics, slide culture and Lactophenol Cotton blue mount. Results: Out of the 103 patients, (63 males and 40 females Aspergillus species has been isolated from 17 (16.5% males and 07 (6.79% females. Various predisposing factors of pulmonary aspergillosis have been identified in which pulmonary tuberculosis, chronic smoking and environmental exposure to asbestos, cement its tops the list. Many of the patients had multiple predisposing factors. Aspergillus species were isolated in 24 (23.3% cases. Aspergillus fumigatus was the predominant species isolated in 13 (54.16% cases followed by Aspergillus flavus in 07 (29.16% cases, Aspergillus niger in 03 (12.5 % and Aspergillus terrus in 1 (4.16% cases. Conclusion: It is concluded that the prevalence of pulmonary Aspergillosis is quite high in immunocompromised individuals and low in immunocompetent individuals. An adequate and efficient evaluation of the etiological agents has a

  10. HTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration.

    Science.gov (United States)

    Yoshida, Tsunehiko; DeWan, Andrew; Zhang, Hong; Sakamoto, Ryosuke; Okamoto, Haru; Minami, Masayoshi; Obazawa, Minoru; Mizota, Atsushi; Tanaka, Minoru; Saito, Yoshihiro; Takagi, Ikue; Hoh, Josephine; Iwata, Takeshi

    2007-04-04

    To study the effect of candidate single nucleotide polymorphisms (SNPs) on chromosome 10q26, recently shown to be associated with wet age-related macular degeneration (AMD) in Chinese and Caucasian cohorts, in a Japanese cohort. Using genomic DNA isolated from peripheral blood of wet AMD cases and age-matched controls, we genotyped two SNPs, rs10490924, and rs11200638, on chromosome 10q26, 6.6 kb and 512 bp upstream of the HTRA1 gene, respectively, using temperature gradient capillary electrophoresis (TGCE) and direct sequencing. Association tests were performed for individual SNPs and jointly with SNP complement factor H (CFH) Y402H. The two SNPs, rs10490924 and rs11200638, are in complete linkage disequilibrium (D'=1). Previous sequence comparisons among seventeen species revealed that the genomic region containing rs11200638 was highly conserved while the region surrounding rs10490924 was not. The allelic association test for rs11200638 yielded a p-value fashion: Odds ratio was 10.1 (95% CI 4.36, 23.06), adjusted for SNP CFH 402, for those carrying two copies of the risk allele, whereas indistinguishable from unity if carrying only one risk allele. The HTRA1 promoter polymorphism, rs11200638, is a strong candidate with a functional consequence that predisposes Japanese to develop neovascular AMD.

  11. Rectal Cancer in a Patient with Bartter Syndrome: A Case Report.

    Science.gov (United States)

    Fujino, Shiki; Miyoshi, Norikatsu; Ohue, Masayuki; Mukai, Mikio; Kukita, Yoji; Hata, Taishi; Matsuda, Chu; Mizushima, Tsunekazu; Doki, Yuichiro; Mori, Masaki

    2017-05-12

    A woman with rectal cancer was scheduled for surgery. However, she also had hypokalemia, hyperreninemia, and hyperaldosteronism in the absence of any known predisposing factors or endocrine tumors. She was given intravenous potassium, and her blood abnormalities stabilized after tumor resection. Genetic analysis revealed mutations in several genes associated with Bartter syndrome (BS) and Gitelman syndrome, including SLC12A1 , CLCNKB , CASR , SLC26A3 , and SLC12A3 . Prostaglandin E2 (PGE2) plays an important role in BS and worsens electrolyte abnormalities. The PGE2 level is reportedly increased in colorectal cancer, and in the present case, immunohistochemical examination revealed an increased PGE2 level in the tumor. We concluded that the tumor-related PGE2 elevation had worsened the patient's BS, which became more manageable after tumor resection.

  12. Microbiology of destructive periodontal disease in adolescent patients with congenital neutropenia - A report of 3 cases

    NARCIS (Netherlands)

    van Winkelhoff, AJ; Schouten-van Meeteren, AYN; Baart, JA; Vandenbroucke-Grauls, CMJE

    Background, aims: Congenital neutropenia is one condition that may predispose for destructive periodontal disease at a young age. In this report, we describe the microbiology of 3 adolescent patients with congenital neutropenia two of whom suffered from severe periodontitis. Method: Microbiological

  13. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

    DEFF Research Database (Denmark)

    Palmer, Colin N A; Irvine, Alan D; Terron-Kwiatkowski, Ana

    2006-01-01

    most genetic studies have focused on immunological mechanisms, a primary epithelial barrier defect has been anticipated. Filaggrin is a key protein that facilitates terminal differentiation of the epidermis and formation of the skin barrier. Here we show that two independent loss-of-function genetic...... variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis. These variants are carried by approximately 9% of people of European origin. These variants also show highly significant association with asthma occurring in the context of atopic...

  14. Dry Socket: Incidence, Clinical Features, and Predisposing Factors

    Directory of Open Access Journals (Sweden)

    Babatunde O. Akinbami

    2014-01-01

    Full Text Available Background. Dry socket is a global phenomenon. The purpose of the study was to investigate the incidence of dry socket in recent times in a Nigerian Tertiary Hospital. Methods. Patients who were referred for dental extractions were included in the study. The case files of patients were obtained and information retrieved included biodata, indication for extraction, number and type of teeth extracted, oral hygiene status, compliance to oral hygiene instructions, and development of dry socket. Results. One thousand, one hundred and eighty two patients with total of 1362 teeth extracted during the 4-year period of the study were analyzed, out of which 1.4% teeth developed dry socket. The mean age (SD was 35.2 (16.0 years. Most of the patients who presented with dry socket were in the fourth decade of life. Mandibular teeth were affected more than maxillary teeth. Molars were more affected. Retained roots and third molars were conspicuous in the cases with dry socket. Conclusion. The incidence of dry socket in our centre was lower than previous reports. Oral hygiene status, lower teeth, and female gender were significantly associated with development of dry socket. Treatment with normal saline irrigation and ZnO eugenol dressings allowed relief of the symptoms.

  15. Role of 5-HT2C receptor gene variants in antipsychotic-induced weight gain

    Directory of Open Access Journals (Sweden)

    Brandl EJ

    2011-08-01

    Full Text Available Tessa JM Wallace, Clement C Zai, Eva J Brandl, Daniel J MüllerNeurogenetics Section, Center for Addiction and Mental Health, Department of Psychiatry, University of Toronto, Toronto, ON, CanadaAbstract: Antipsychotic-induced weight gain is a serious side effect of antipsychotic medication that can lead to increased morbidity, mortality, and non-compliance in patients. Numerous single nucleotide polymorphisms have been studied for association with antipsychotic-induced weight gain in an attempt to find genetic predictors of this side effect. An ability to predict this side effect could lead to personalized treatment plans for predisposed individuals, which could significantly decrease the prevalence and severity of weight gain. Variations in the serotonin receptor 2c gene (HTR2C have emerged as promising candidates for prediction of antipsychotic-induced weight gain. Specifically, the well-studied -759C/T promoter polymorphism has been associated with weight gain in diverse populations, although some studies have reported no association. This discrepancy is likely due to heterogeneity in study design with respect to ethnicity, treatment duration, and other variables. Notably, the association between HTR2C and antipsychotic-induced weight gain appears strongest in short-term studies on patients with limited or no previous antipsychotic treatment. Other, less extensively studied promoter polymorphisms (-697C/G, -997G/A, and -1165A/G have also emerged as potential predictors of antipsychotic-induced weight gain. Conversely, the well-studied intronic polymorphism Cys23Ser does not appear to be associated. With further research on both HTR2C and other genetic and environmental predictors of antipsychotic-induced weight gain, a predictive test could one day be created to screen patients and provide preventative or alternative treatment for those who are predisposed to this serious side effect.Keywords: HTR2C, pharmacogenomics, promoter polymorphism

  16. Transverse colon volvulus in neurologicaly imparied patient as an emergency surgical condition: A case report

    Directory of Open Access Journals (Sweden)

    Miličković Maja

    2017-01-01

    Full Text Available Introduction. Transverse colon volvulus is an uncommon cause of bowel obstruction in general. Predisposing factors are mental retardation, dysmotility disorders, chronic constipation and congenital megacolon. Case report. We presented transverse colon volvulus in a 16-year-old boy with cerebral palsy. Chronic constipation in neurologicaly impaired patient was a risk factor predisposing to volvulus. The patient was admitted to the hospital with enormous abdominal distension and acute respiratory insufficiency. A boy was emergently taken to the operating room for exploratory laparotomy. During the surgery, a 360º clockwise volvulus of the transverse colon was found. After reduction of volvulus, an enormous transverse colon was resected and colostomy was formed. In the postoperative period, despite the good functioning of stoma and intraabdominal normotension, numerous and long lasting respiratory problems developed. The patient was discharged from our institution after 8 months. Conclusion. Though very rare in pediatric group, the possibility of a transverse colon volvulus must be considered in the differential diagnosis of acute large bowel obstruction.

  17. Expression quantitative trait loci and genetic regulatory network analysis reveals that Gabra2 is involved in stress responses in the mouse.

    Science.gov (United States)

    Dai, Jiajuan; Wang, Xusheng; Chen, Ying; Wang, Xiaodong; Zhu, Jun; Lu, Lu

    2009-11-01

    Previous studies have revealed that the subunit alpha 2 (Gabra2) of the gamma-aminobutyric acid receptor plays a critical role in the stress response. However, little is known about the gentetic regulatory network for Gabra2 and the stress response. We combined gene expression microarray analysis and quantitative trait loci (QTL) mapping to characterize the genetic regulatory network for Gabra2 expression in the hippocampus of BXD recombinant inbred (RI) mice. Our analysis found that the expression level of Gabra2 exhibited much variation in the hippocampus across the BXD RI strains and between the parental strains, C57BL/6J, and DBA/2J. Expression QTL (eQTL) mapping showed three microarray probe sets of Gabra2 to have highly significant linkage likelihood ratio statistic (LRS) scores. Gene co-regulatory network analysis showed that 10 genes, including Gria3, Chka, Drd3, Homer1, Grik2, Odz4, Prkag2, Grm5, Gabrb1, and Nlgn1 are directly or indirectly associated with stress responses. Eleven genes were implicated as Gabra2 downstream genes through mapping joint modulation. The genetical genomics approach demonstrates the importance and the potential power of the eQTL studies in identifying genetic regulatory networks that contribute to complex traits, such as stress responses.

  18. The Course of Headache in Patients With Moderate-to-Severe Headache Due to Aneurysmal Subarachnoid Hemorrhage: A Retrospective Cross-Sectional Study.

    Science.gov (United States)

    Hong, Chang-Ki; Joo, Jin-Yang; Kim, Yong Bae; Shim, Yu Shik; Lim, Yong Cheol; Shin, Yong Sam; Chung, Joonho

    2015-01-01

    The purpose of this study was to evaluate the course of headache in patients with moderate-to-severe headache due to aneurysmal subarachnoid hemorrhage (aSAH) and to identify its predisposing factors. Little is known about the long-term course of headache in patients with aSAH. Since September 2009, patients with aSAH have had their headaches prospectively rated using a numeric rating scale (NRS). From this database containing 838 patients, 217 were included and all included patients met the following criteria: (1) presence of ruptured intracranial aneurysms on computed tomography angiography or magnetic resonance angiography; (2) alert consciousness (Glasgow Coma Scale 15); (3) newly onset moderate-to-severe headache (NRS ≥ 4) due to ruptured intracranial aneurysms; and (4) good clinical outcome at discharge (modified Rankin Scale 0, 1, or 2). We observed the changes in NRS scores from initial to 12-month follow-up and identified the predisposing factors of NRS changes. Of the 217 patients, 182 (83.9%) experienced improvement in NRS score ≤ 3 upon discharge. The NRS scores at discharge were significantly lower than those on admission (P headache improvement included previous stroke (odds ratio [OR] = 0.141; 95% CI 0.051-0.381; P headache treated with medication (OR = 0.079; 95% CI 0.010-0.518; P = .008), and endovascular treatment (EVT; OR = 2.531; 95% CI 1.141-5.912; P = .026). The NRS scores tended to decrease continuously until the 12-month follow-up. EVT and symptomatic vasospasm were independently associated with a decrease of NRS in the follow-up periods. The course of headache in patients with aSAH continuously improved during the 12 months of follow-up. Headache improvement might be expected in patients who were treated with EVT and in those who did not have previous stroke or headache. © 2015 American Headache Society.

  19. Impact of liver disease on outcomes of patients hospitalized for epistaxis.

    Science.gov (United States)

    Mohamed, Omar M; Govindan, Aparna; Filimonov, Andrey; Sylvester, Michael J; Zaki, Michael; Baredes, Soly; Eloy, Jean Anderson

    2017-12-01

    Liver disease (LD) often results in coagulation abnormalities that may predispose to more severe epistaxis. The purpose of this analysis was to examine characteristics of patients hospitalized for epistaxis with LD and explore the impact of LD on patient outcomes. The 2002 to 2013 National Inpatient Sample was queried for cases with a primary diagnosis of epistaxis. Cases with additional codes meeting the Agency for Healthcare Research and Quality's definition of LD were identified and compared to the non-LD cohort. Out of 39,879 cases meeting inclusion criteria, 3.6% had LD. LD was associated with younger age (55.7 years vs. 67.5 years; P epistaxis, LD resulted in greater morbidity and mortality. Clinicians should be aware of the particular risk that LD bears on the hospitalized epistaxis patient. 2C. Laryngoscope, 127:2691-2697, 2017. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

  20. Prematurity and low weight at birth as new conditions predisposing to an increased cardiovascular risk.

    Science.gov (United States)

    Mercuro, Giuseppe; Bassareo, Pier Paolo; Flore, Giovanna; Fanos, Vassilios; Dentamaro, Ilaria; Scicchitano, Pietro; Laforgia, Nicola; Ciccone, Marco Matteo

    2013-04-01

    Although the survival rate for preterm subjects has improved considerably, due to the progress in the field of perinatal medicine, preterm birth is frequently the cause underlying a series of notorious complications: morphological, neurological, ophthalmological, and renal alterations. In addition, it has recently been demonstrated how low gestational age and reduced foetal growth contribute towards an increased cardiovascular risk in preterm neonates. In fact, cardiovascular mortality is higher among former preterm adults than those born at term. This condition is referred to as cardiovascular perinatal programming. In the light of the above, an early, constant, and prolonged cardiological followup programme should be implemented in former preterm individuals. The aim of this paper was to perform a comprehensive literature review about two new emerging conditions predisposing to an increased cardiovascular risk: prematurity and low weight at birth.

  1. Acute enteritis or gastroenteritis in young dogs as a predisposing factor for intestinal intussusception: a retrospective study.

    Science.gov (United States)

    Rallis, T S; Papazoglou, L G; Adamama-Moraitou, K K; Prassinos, N N

    2000-10-01

    Various types of intestinal intussusception were diagnosed in 29 of 220 young dogs with acute enteritis or gastroenteritis, due to canine parvovirus (85 cases) or presumably to other infectious agents, inflammation or less common hypermotility and metabolic derangements (135 cases). As the other causes of the disease were excluded, acute enteritis or gastroenteritis was considered to be the most likely predisposing factor for the intestinal intussusception. The most common type of intussusception was found to be the ileocolic. Of the 21 dogs that underwent surgical resection and anastomosis of the intestine, 18 dogs recovered completely and three died due to complications. The high survival rate was due to the effective pre-operative, surgical and post-operative therapy.

  2. Frequency, character and predisposing factor of headache among students of medical college of Karachi.

    Science.gov (United States)

    Noor, Tooba; Sajjad, Ali; Asma, Anoosha

    2016-02-01

    To evaluate the frequency, predisposing factors and symptomatology of headache among medical students. The cross-sectional study was conducted from September to December 2013 and comprised students of two medical colleges of Karachi. International Classification of Headache Disorder-II criterion was used to diagnose and classify headache. SPSS 17 was used for statistical analysis. Of the 413 medical students studies, 326(79%) had tension type headache, and 87 (21%) had migraine. Headache was more frequent among females than males, with a ratio of 6.5:1. Both types of headache were significantly associated with self-reported disturbed sleep pattern, stress and various triggering factors (p<0.05 each). Both types greatly influenced individual's daily life with significant association with avoiding academics, extra-curricular activities, family and friends (p<0.05 each). High self-medication rate of 400(96.9%) was observed. The prevalence of headache among medical students was high with female predominance. Infrequent consultation needs to be addressed through awareness programmes.

  3. Gallbladder function in diabetic patients

    International Nuclear Information System (INIS)

    Shreiner, D.P.; Sarva, R.P.; Van Thiel, D.; Yingvorapant, N.

    1986-01-01

    Gallbladder emptying and filling was studied in eight diabetic and six normal control patients. None of the patients had gallstones. Cholescintigraphy was performed using [/sup 99m/Tc]disofenin, and gallbladder emptying was studied using a 45-min i.v. infusion of the octapeptide of cholecystokinin (OP-CCK) 20 ng/kg X hr. The peak filling rate was greater in diabetic than in normal subjects; however, emptying of the gallbladder in response to OP-CCK was significantly less in the diabetic subjects (51.6 +/- 10.4% compared with 77.2 +/- 4.9%). When the diabetic group was subdivided into obese and nonobese diabetics, the obese diabetics had a much lower percentage of emptying than the nonobese diabetics (30.0 +/- 10.4% compared with 73.1 +/- 9.3%). These findings suggest that obese diabetics may have impaired emptying of the gallbladder even in the absence of gallstones. The more rapid rate of gallbladder filling in obesity may indicate hypotonicity of the gallbladder. The combination of these abnormalities may predispose the obese diabetic to the development of gallstones

  4. Enabling and Predisposing Factors for the Utilization of Preventive Dental Health Care in Migrants and Non-Migrants in Germany

    Directory of Open Access Journals (Sweden)

    Patrick Brzoska

    2017-08-01

    observed for age and for the type of health insurance.DiscussionThe study identifies different enabling and predisposing factors that are relevant for the utilization of dental checkups among the population in Germany, some of which differ between migrants and non-migrants. Differences are particularly pronounced for younger ages. This differs from findings on other preventive services where older migrants tend to be more disadvantaged. Additional explanatory factors such as barriers that migrants experience in the dental health care system need to be considered in order to implement patient-oriented services and to reduce disparities in access to dental prevention.

  5. Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia.

    Science.gov (United States)

    Hirabayashi, Shinsuke; Seki, Masafumi; Hasegawa, Daisuke; Kato, Motohiro; Hyakuna, Nobuyuki; Shuo, Takuya; Kimura, Shunsuke; Yoshida, Kenichi; Kataoka, Keisuke; Fujii, Yoichi; Shiraishi, Yuichi; Chiba, Kenichi; Tanaka, Hiroko; Kiyokawa, Nobutaka; Miyano, Satoru; Ogawa, Seishi; Takita, Junko; Manabe, Atsushi

    2017-12-01

    Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (IDH1 or IDH2) mutations and is characterized by multiple enchondromas along with hemangiomas. Malignant transformation of enchondromas to chondrosarcomas and secondary neoplasms, such as brain tumors or acute myeloid leukemia, are serious complications. A 15-year-old female with Maffucci syndrome developed B-cell precursor acute lymphoblastic leukemia (BCP-ALL). A somatic mutation in IDH1 was detected in hemangioma and leukemic cells. KRAS mutation and deletion of IKZF1 were detected in leukemic cells. Patients with Maffucci syndrome may, therefore, be at risk of BCP-ALL associated with secondary genetic events that affect lymphocyte differentiation. © 2017 Wiley Periodicals, Inc.

  6. Vena porta thrombosis in patient with inherited factor VII deficiency

    DEFF Research Database (Denmark)

    Klovaite, Jolanta; Friis-Hansen, Lennart Jan; Larsen, Fin S

    2010-01-01

    Most clotting factor VII (FVII)-deficient patients suffer from bleeding episodes and occasionally thromboembolic complications after surgical interventions or replacement therapy. However, thromboses without apparent triggering factors may occur as well. We report a case of a pregnant woman...... vein with well expressed portosystemic collaterals, heterozygosity for three common polymorphisms in FVII gene, associated with reduction in plasma FVII levels, and no other factors predisposing to thrombosis....

  7. [Breast cancer genetics. BRCA1 and BRCA2: the main genes for disease predisposition].

    Science.gov (United States)

    Ruiz-Flores, P; Calderón-Garcidueñas, A L; Barrera-Saldaña, H A

    2001-01-01

    Breast cancer is among the most common world cancers. In Mexico this neoplasm has been progressively increasing since 1990 and is expected to continue. The risk factors for this disease are age, some reproductive factors, ionizing radiation, contraceptives, obesity and high fat diets, among other factors. The main risk factor for BC is a positive family history. Several families, in which clustering but no mendelian inheritance exists, the BC is due probably to mutations in low penetrance genes and/or environmental factors. In families with autosomal dominant trait, the BRCA1 and BRCA2 genes are frequently mutated. These genes are the two main BC susceptibility genes. BRCA1 predispose to BC and ovarian cancer, while BRCA2 mutations predispose to BC in men and women. Both are long genes, tumor suppressors, functioning in a cell cycle dependent manner, and it is believed that both switch on the transcription of several genes, and participate in DNA repair. The mutations profile of these genes is known in developed countries, while in Latin America their search has just began. A multidisciplinary group most be responsible of the clinical management of patients with mutations in BRCA1 and BRCA2, and the risk assignment and Genetic counseling most be done carefully.

  8. Patient-physician trust: an exploratory study.

    Science.gov (United States)

    Thom, D H; Campbell, B

    1997-02-01

    Patients' trust in their physicians has recently become a focus of concern, largely owing to the rise of managed care, yet the subject remains largely unstudied. We undertook a qualitative research study of patients' self-reported experiences with trust in a physician to gain further understanding of the components of trust in the context of the patient-physician relationship. Twenty-nine patients participants, aged 26 to 72, were recruited from three diverse practice sites. Four focus groups, each lasting 1.5 to 2 hours, were conducted to explore patients' experiences with trust. Focus groups were audio-recorded, transcribed, and coded by four readers, using principles of grounded theory. The resulting consensus codes were grouped into seven categories of physician behavior, two of which related primarily to technical competence (thoroughness in evaluation and providing appropriate and effective treatment) and five of which were interpersonal (understanding patient's individual experience, expressing caring, communicating clearly and completely, building partnership/sharing power and honesty/respect for patient). Two additional categories were predisposing factors and structural/staffing factors. Each major category had multiple subcategories. Specific examples from each major category are provided. These nine categories of physician behavior encompassed the trust experiences related by the 29 patients. These categories and the specific examples provided by patients provide insights into the process of trust formation and suggest ways in which physicians could be more effective in building and maintaining trust.

  9. Manic Symptoms during a Switch from Paliperidone ER to Paliperidone Palmitate in a Patient with Schizophrenia

    Directory of Open Access Journals (Sweden)

    Kadir Demirci

    2015-01-01

    Full Text Available Some antipsychotic drugs have treatment efficacy for mania and bipolar disorder. However, these drugs may rarely cause manic symptoms in some schizophrenic patients. We hereby report a 22-year-old female patient with schizophrenia who experienced a manic episode during a switch from paliperidone ER to paliperidone palmitate. This case is an important reminder that an abrupt switch from oral paliperidone to paliperidone palmitate may predispose certain patients to hypomanic or manic symptoms.

  10. Effect of Tryptophan Hydroxylase-2 rs7305115 SNP on suicide attempts risk in major depression

    Directory of Open Access Journals (Sweden)

    Zhang Yuqi

    2010-08-01

    Full Text Available Abstract Background Suicide and major depressive disorders (MDD are strongly associated, and genetic factors are responsible for at least part of the variability in suicide risk. We investigated whether variation at the tryptophan hydroxylase-2 (TPH2 gene rs7305115 SNP may predispose to suicide attempts in MDD. Methods We genotyped TPH2 gene rs7305115 SNP in 215 MDD patients with suicide and matched MDD patients without suicide. Differences in behavioral and personality traits according to genotypic variation were investigated by logistic regression analysis. Results There were no significant differences between MDD patients with suicide and controls in genotypic (AG and GG frequencies for rs7305115 SNP, but the distribution of AA genotype differed significantly (14.4% vs. 29.3%, p p p Conclusions The study suggested that hopelessness, negative life events and family history of suicide were risk factors of attempted suicide in MDD while the TPH2 rs7305115A remained a significant protective predictor of suicide attempts.

  11. Latest developments in the predisposal of radioactive waste at the radioactive waste management department from ifin-hh

    International Nuclear Information System (INIS)

    Dragolici, F.; Dogaru, G.; Neacsu, E.

    2016-01-01

    The Radioactive Waste Management Department (DMDR) from IFIN-HH has a wide experience in the management of the non-fuel cycle radioactive wastes from all over Romania generated from nuclear techniques and technologies application, assuring the radiological safety and security of operators, population and environment. During 2011-2015 was implemented a major upgrading programme applied both on the technological systems of the building and on equipment. The paper describes the facility developments having the scope to share to the public and stakeholders the radioactive waste predisposal capabilities available at DMDR-IFIN-HH. As a whole, today DMDR-IFIN-HH represents a complete and complex infrastructure, assuring high quality services in all the steps related to the management of the institutional radioactive waste in Romania. (authors)

  12. Medication adherence in type 2 diabetes patients: study of patients ...

    African Journals Online (AJOL)

    Medication adherence in type 2 diabetes patients: study of patients in ... impact of medication adherence on the clinical outcomes of type 2 diabetes patients at ... the review of case notes of one-hundred and fifty two randomly selected patients.

  13. Hormones and arterial stiffness in patients with chronic kidney disease.

    Science.gov (United States)

    Gungor, Ozkan; Kircelli, Fatih; Voroneanu, Luminita; Covic, Adrian; Ok, Ercan

    2013-01-01

    Cardiovascular disease constitutes the major cause of mortality in patients with chronic kidney disease. Arterial stiffness is an important contributor to the occurrence and progression of cardiovascular disease. Various risk factors, including altered hormone levels, have been suggested to be associated with arterial stiffness. Based on the background that chronic kidney disease predisposes individuals to a wide range of hormonal changes, we herein review the available data on the association between arterial stiffness and hormones in patients with chronic kidney disease and summarize the data for the general population.

  14. Hypogonadism in patients with chronic obstructive pulmonary disease: relationship with airflow limitation, muscle weakness and systemic inflammation

    Directory of Open Access Journals (Sweden)

    Rasha Galal Daabis

    2016-03-01

    Conclusion: Hypogonadism is highly prevalent in clinically stable COPD patients and is particularly related to the severity of the airway obstruction. Systemic inflammation is present in stable COPD patients and its intensity is related to the severity of the underlying disease and it predisposes to skeletal muscle weakness and exercise intolerance. However, we failed to find a significant association between hypogonadism and muscle weakness or systemic inflammation.

  15. Hip dislocations after 2,734 elective unilateral fast-track total hip arthroplasties

    DEFF Research Database (Denmark)

    Jørgensen, Christoffer Calov; Kjærsgaard-Andersen, Per; Kehlet, Henrik

    2014-01-01

    STUDY DESIGN: Retrospective review of prospectively collected data. OBJECTIVE: To investigate the incidence of hip dislocation 90 days after total hip arthroplasty in relation to time after surgery, mechanism of dislocation and predisposing factors. METHODS: Prospective data on preoperative patient.......31-3.40)] but not hospital stay of hip...

  16. Cerebral Perfusion Long Term after Therapeutic Occlusion of the Internal Carotid Artery in Patients Who Tolerated Angiographic Balloon Test Occlusion

    NARCIS (Netherlands)

    Gevers, S.; Heijtel, D.; Ferns, S. P.; van Ooij, P.; van Rooij, W. J.; van Osch, M. J.; van den Berg, R.; Nederveen, A. J.; Majoie, C. B.

    2012-01-01

    BACKGROUND AND PURPOSE: Therapeutic carotid occlusion is an established technique for treatment of large and giant aneurysms of the (CA, in patients with synchronous venous filling on angiography during BTO. Concern remains that hemodynamic alterations after permanent occlusion will predispose the

  17. Impact of spinal anaesthesia on peri-operative lung volumes in obese and morbidly obese female patients.

    Science.gov (United States)

    Regli, A; von Ungern-Sternberg, B S; Reber, A; Schneider, M C

    2006-03-01

    Although obesity predisposes to postoperative pulmonary complications, data on the relationship between body mass index (BMI) and peri-operative respiratory performance are limited. We prospectively studied the impact of spinal anaesthesia, obesity and vaginal surgery on lung volumes measured by spirometry in 28 patients with BMI 30-40 kg.m(-2) and in 13 patients with BMI > or = 40 kg.m(-2). Vital capacity, forced vital capacity, forced expiratory volume in 1 s, mid-expiratory and peak expiratory flows were measured during the pre-operative visit (baseline), after effective spinal anaesthesia with premedication, and after the operation at 20 min, 1 h, 2 h, and 3 h (after mobilisation). Spinal anaesthesia and premedication were associated with a significant decrease in spirometric parameters. Spinal anaesthesia and premedication were associated with a significant decrease in spirometric parameters; mean (SD) vital capacities were - 19% (6.4) in patients with BMI 30-40 kg.m(-2) and - 33% (9.0) in patients with BMI > 40 kg.m(-2). The decrease of lung volumes remained constant for 2 h, whereas 3 h after the operation and after mobilisation, spirometric parameters significantly improved in all patients. This study showed that both spinal anaesthesia and obesity significantly impaired peri-operative respiratory function.

  18. Diagnosis of bacterial overgrowth of the small intestine. Comparison of the 14C-D-xylose breath test and jejunal cultures in 60 patients

    DEFF Research Database (Denmark)

    Rumessen, J J; Gudmand-Høyer, E; Bachmann, E

    1985-01-01

    the presence of BOG was ruled out (diagnoses: irritable bowel syndrome, 8; chronic diarrhoea, 6; and lactose malabsorption, 1). These patients were used as controls. The other 22 of the 60 patients could not be placed in either group owing to the presence of factors known to predispose for BOG; none of them...

  19. Predisposing factors in posterior circulation infarcts: a vascular morphological assessment

    Energy Technology Data Exchange (ETDEWEB)

    Coban, Goekcen; Cifci, Egemen; Yildirim, Erkan; Agildere, Ahmet Muhtesem [Baskent University Faculty of Medicine, Department of Radiology, Konya (Turkey)

    2015-05-01

    The aim of the study is to assess the effect of shape, diameter, elongation and deviation criteria of basilar artery (BA), convergence angle and diameter variations of vertebral arteries, and concurrent chronic diseases on posterior circulation infarcts. Between January 2010 and May 2013, 186 patients who underwent brain and diffusion magnetic resonance imaging (MRI) with suspected cerebrovascular accident and were diagnosed with posterior circulation infarct and 120 infarct negative control subjects were included in this case-control retrospective study. Vertebral artery (VA) and BA diameter, right (R) and left (L) VA angles at the level of bifurcation, and BA elongation-deviation, and shape of BA were assessed in a total of 306 subjects. Ischemic lesions in the posterior circulation were classified according to their anatomical location and vascular perfusion areas. No significant difference was noted between the control and patient groups with respect to BA diameter (p = 0.676). The most effective risk factors for posterior circulation infarcts were as follows: BA elongation of 2 or 3, BA transverse location of 2 or 3, increase in left VA angle, and history of hypertension, hypercholesterolemia, and diabetes mellitus. Our results suggest that prominent elongation and deviation, C and J shape of BA, and increased L VA angle may be the predictors of at-risk patients in posterior circulation infarcts. Reporting marked morphological BA and VA variations detected at routine brain MRI will aid in selection of patients. Timely detection and treatment of at-risk patients may be life-saving. (orig.)

  20. Predisposing factors in posterior circulation infarcts: a vascular morphological assessment

    International Nuclear Information System (INIS)

    Coban, Goekcen; Cifci, Egemen; Yildirim, Erkan; Agildere, Ahmet Muhtesem

    2015-01-01

    The aim of the study is to assess the effect of shape, diameter, elongation and deviation criteria of basilar artery (BA), convergence angle and diameter variations of vertebral arteries, and concurrent chronic diseases on posterior circulation infarcts. Between January 2010 and May 2013, 186 patients who underwent brain and diffusion magnetic resonance imaging (MRI) with suspected cerebrovascular accident and were diagnosed with posterior circulation infarct and 120 infarct negative control subjects were included in this case-control retrospective study. Vertebral artery (VA) and BA diameter, right (R) and left (L) VA angles at the level of bifurcation, and BA elongation-deviation, and shape of BA were assessed in a total of 306 subjects. Ischemic lesions in the posterior circulation were classified according to their anatomical location and vascular perfusion areas. No significant difference was noted between the control and patient groups with respect to BA diameter (p = 0.676). The most effective risk factors for posterior circulation infarcts were as follows: BA elongation of 2 or 3, BA transverse location of 2 or 3, increase in left VA angle, and history of hypertension, hypercholesterolemia, and diabetes mellitus. Our results suggest that prominent elongation and deviation, C and J shape of BA, and increased L VA angle may be the predictors of at-risk patients in posterior circulation infarcts. Reporting marked morphological BA and VA variations detected at routine brain MRI will aid in selection of patients. Timely detection and treatment of at-risk patients may be life-saving. (orig.)

  1. Predisposing factors in posterior circulation infarcts: a vascular morphological assessment.

    Science.gov (United States)

    Çoban, Gökçen; Çifçi, Egemen; Yildirim, Erkan; Ağıldere, Ahmet Muhteşem

    2015-05-01

    The aim of the study is to assess the effect of shape, diameter, elongation and deviation criteria of basilar artery (BA), convergence angle and diameter variations of vertebral arteries, and concurrent chronic diseases on posterior circulation infarcts. Between January 2010 and May 2013, 186 patients who underwent brain and diffusion magnetic resonance imaging (MRI) with suspected cerebrovascular accident and were diagnosed with posterior circulation infarct and 120 infarct negative control subjects were included in this case-control retrospective study. Vertebral artery (VA) and BA diameter, right (R) and left (L) VA angles at the level of bifurcation, and BA elongation-deviation, and shape of BA were assessed in a total of 306 subjects. Ischemic lesions in the posterior circulation were classified according to their anatomical location and vascular perfusion areas. No significant difference was noted between the control and patient groups with respect to BA diameter (p = 0.676). The most effective risk factors for posterior circulation infarcts were as follows: BA elongation of 2 or 3, BA transverse location of 2 or 3, increase in left VA angle, and history of hypertension, hypercholesterolemia, and diabetes mellitus. Our results suggest that prominent elongation and deviation, C and J shape of BA, and increased L VA angle may be the predictors of at-risk patients in posterior circulation infarcts. Reporting marked morphological BA and VA variations detected at routine brain MRI will aid in selection of patients. Timely detection and treatment of at-risk patients may be life-saving.

  2. Genetic variant in the IGF2BP2 gene may interact with fetal malnutrition to affect glucose metabolism

    NARCIS (Netherlands)

    van Hoek, Mandy; Langendonk, Janneke G.; de Rooij, Susanne R.; Sijbrands, Eric J. G.; Roseboom, Tessa J.

    2009-01-01

    OBJECTIVE: Fetal malnutrition may predispose to type 2 diabetes through gene programming and developmental changes. Previous studies showed that these effects may be modulated by genetic variation. Genome-wide association studies discovered and replicated a number of type 2 diabetes-associated

  3. Paltry past-precipitation: Predisposing prairie dogs to plague?

    Science.gov (United States)

    Eads, David; Biggins, Dean E.

    2017-01-01

    The plague bacterium Yersinia pestis was introduced to California in 1900 and spread rapidly as a sylvatic disease of mammalian hosts and flea vectors, invading the Great Plains in the United States by the 1930s to 1940s. In grassland ecosystems, plague causes periodic, devastating epizootics in colonies of black-tailed prairie dogs (Cynomys ludovicianus), sciurid rodents that create and maintain subterranean burrows. In doing so, plague inhibits prairie dogs from functioning as keystone species of grassland communities. The rate at which fleas transmit Y. pestis is thought to increase when fleas are abundant. Flea densities can increase during droughts when vegetative production is reduced and herbivorous prairie dogs are malnourished and have weakened defenses against fleas. Epizootics of plague have erupted frequently in prairie dogs during years in which precipitation was plentiful, and the accompanying cool temperatures might have facilitated the rate at which fleas transmitted Y. pestis. Together these observations evoke the hypothesis that transitions from dry-to-wet years provide conditions for plague epizootics in prairie dogs. Using generalized linear models, we analyzed a 24-year dataset on the occurrence of plague epizootics in 42 colonies of prairie dogs from Colorado, USA, 1982–2005. Of the 33 epizootics observed, 52% erupted during years with increased precipitation in summer. For the years with increased summer precipitation, if precipitation in the prior growing season declined from the maximum of 502 mm to the minimum of 200 mm, the prevalence of plague epizootics was predicted to increase 3-fold. Thus, reduced precipitation may have predisposed prairie dogs to plague epizootics when moisture returned. Biologists sometimes assume dry conditions are detrimental for plague. However, 48% of epizootics occurred during years in which precipitation was scarce in summer. In some cases, an increased abundance of fleas during dry years might

  4. Deregulation of the endogenous C/EBPβ LIP isoform predisposes to tumorigenesis.

    Science.gov (United States)

    Bégay, Valérie; Smink, Jeske J; Loddenkemper, Christoph; Zimmermann, Karin; Rudolph, Cornelia; Scheller, Marina; Steinemann, Doris; Leser, Ulf; Schlegelberger, Brigitte; Stein, Harald; Leutz, Achim

    2015-01-01

    Two long and one truncated isoforms (termed LAP*, LAP, and LIP, respectively) of the transcription factor CCAAT enhancer binding protein beta (C/EBPβ) are expressed from a single intronless Cebpb gene by alternative translation initiation. Isoform expression is sensitive to mammalian target of rapamycin (mTOR)-mediated activation of the translation initiation machinery and relayed through an upstream open reading frame (uORF) on the C/EBPβ mRNA. The truncated C/EBPβ LIP, initiated by high mTOR activity, has been implied in neoplasia, but it was never shown whether endogenous C/EBPβ LIP may function as an oncogene. In this study, we examined spontaneous tumor formation in C/EBPβ knockin mice that constitutively express only the C/EBPβ LIP isoform from its own locus. Our data show that deregulated C/EBPβ LIP predisposes to oncogenesis in many tissues. Gene expression profiling suggests that C/EBPβ LIP supports a pro-tumorigenic microenvironment, resistance to apoptosis, and alteration of cytokine/chemokine expression. The results imply that enhanced translation reinitiation of C/EBPβ LIP promotes tumorigenesis. Accordingly, pharmacological restriction of mTOR function might be a therapeutic option in tumorigenesis that involves enhanced expression of the truncated C/EBPβ LIP isoform. Elevated C/EBPβ LIP promotes cancer in mice. C/EBPβ LIP is upregulated in B-NHL. Deregulated C/EBPβ LIP alters apoptosis and cytokine/chemokine networks. Deregulated C/EBPβ LIP may support a pro-tumorigenic microenvironment.

  5. mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency.

    Science.gov (United States)

    Saada, Ann; Shaag, Avraham; Elpeleg, Orly

    2003-05-01

    Decreased mitochondrial thymidine kinase (TK2) activity is associated with mitochondrial DNA (mtDNA) depletion and respiratory chain dysfunction and is manifested by isolated, fatal skeletal myopathy. Other tissues such as liver, brain, heart, and skin remain unaffected throughout the patients' life. In order to elucidate the mechanism of tissue specificity in the disease we have investigated the expression of the mitochondrial deoxynucleotide carrier, the mtDNA content and the activity of TK2 in mitochondria of various tissues. Our results suggest that low basal TK2 activity combined with a high requirement for mitochondrial encoded proteins in muscle predispose this tissue to the devastating effect of TK2 deficiency.

  6. Detection of Increased Plasma Interleukin-6 Levels and Prevalence of Prevotella copri and Bacteroides vulgatus in the Feces of Type 2 Diabetes Patients

    Directory of Open Access Journals (Sweden)

    Aline Zazeri Leite

    2017-09-01

    Full Text Available Intestinal dysbiosis and metabolic endotoxemia have been associated with metabolic disorders, such as obesity, insulin resistance, and type 2 diabetes (T2D. The main goal of the present study was to evaluate the intestinal dysbiosis in Brazilian T2D patients and correlate these data with inflammatory cytokines and lipopolysaccharides (LPS plasma concentrations. This study was approved by the Ethics Committees from Barretos Cancer Hospital and all individuals signed the informed consent form. Stool samples were required for DNA extraction, and the V3/V4 regions of bacterial 16S were sequenced using an Illumina platform. Peripheral blood was used to quantify inflammatory cytokines and plasma LPS concentrations, by CBA flex and ELISA, respectively. Statistical analyses were performed using Mann–Whitney and Spearman’s tests. Analysis of variance, diversity indexes, and analysis of alpha- and beta-diversity were conducted using an annotated Operational Taxonomic Unit table. This study included 20 patients and 22 controls. We observed significant differences (P < 0.01 in the microbiota composition (beta-diversity between patients and controls, suggesting intestinal dysbiosis in Brazilian T2D patients. The prevalent species found in patients’ feces were the Gram-negatives Prevotella copri, Bacteroides vulgatus, Bacteroides rodentium, and Bacteroides xylanisolvens. The proinflammatory interleukin-6 (IL-6 was significantly increased (P < 0.05 in patients’ plasma and LPS levels were decreased. We find correlations between the proinflammatory interferon-gamma with Gram-negatives Bacteroides and Prevotella species, and a positive correlation between the LPS levels and P. copri reads. The P. copri and B. vulgatus species were associated with insulin resistance in previous studies. In this study, we suggested that the prevalence of Gram-negative species in the gut and the increased plasma IL-6 in patients could be linked to low

  7. Mineral deficiency predisposes occurrence of retention of placenta in crossbred

    Directory of Open Access Journals (Sweden)

    S. K. Sheetal

    2014-12-01

    Full Text Available Aim: The present study was carried out to investigate the relationship between blood serum concentrations of macro and micro minerals and development of retention of placenta (ROP in crossbred cattle. Materials and Methods: The present study was carried out at Instructional Livestock Farm, Bihar Veterinary College and local Khatals in and around Patna. A total of 20 crossbred cattle (n=10 with normal expulsion of the placenta as control and n=10 with ROP were selected in the present study. Blood samples were collected from these animals and serum was separated and stored in the deep freezer at −20°C till further analysis. The estimation of serum macro-minerals (Ca, P, Ca/P ratio was done by Span diagnostic Kits (Surat, India and trace minerals or micro-minerals (Zn, Cu, and Fe were analyzed by atomic absorption spectrophotometer (Perkin Elmer AAS 220. Mean values were compared between both the groups at 0 h (at parturition and 12 h after parturition. Results: The mean values of serum calcium and zinc were found significantly lower in cattle having ROP than control at both 0 h and 12 h after parturition. The mean values of serum Ca and P ratio obtained at 0 hour were significantly lower in ROP groups as compared to control groups and non-significant at 12 h. The mean values of serum inorganic phosphorus, copper and iron was found non-significantly lower in ROP cases as compared to control. Conclusions: Macro and micro mineral deficiency such as calcium, iron, zinc and copper in blood serum may be predisposing factor for the occurrence of retention of placenta in crossbred cattle.

  8. Skin fibroblasts from a D-deletion type retinoblastoma patient are abnormally X-ray sensitive

    International Nuclear Information System (INIS)

    Weichselbaum, R.R.; Nove, J.; Little, J.B.

    1977-01-01

    Retinoblastoma is a rare malignant eye tumour that appears either spontaneously or in genetically predisposed persons. The latter group is composed of persons who inherit the tumour with a dominant mode of transmission (the familial type) and those who have a deletion in the long arm of chromosome 13 referred to as the D-deletion type. When this deletion is present it is observed in many somatic cells and is often associated with structural defects. Survivors of the genetic forms of retinoblastoma have an increased risk of the development of cancers at other sites. A single genetic locus is unlikely to predispose many somatic cells to tumour formation unless a fundamental molecular defect, possibly related to DNA repair, is present. In order to investigate this hypothesis a study was made of the in vitro X-ray sensitivity of skin fibroblasts derived from three retinoblastoma patients, comprising a pair of twins with the familial type accompanied by no gross chromosome abnormalities, and a patient with the D-deletion type. It was found that fibroblasts derived from the D-deletion patient were significantly more radiosensitive than those from the other two patients. X-ray survival curves are shown. It is concluded that skin fibroblasts derived from a patient with the D-deletion variant of retinoblastoma are abnormally radiosensitive. Future investigations may indicate a specific defect in molecular repair of DNA that will explain the predisposition of these patients to the development of other tumours. (U.K.)

  9. Micrococcus species-related peritonitis in patients receiving peritoneal dialysis.

    Science.gov (United States)

    Kao, Chih-Chin; Chiang, Chih-Kang; Huang, Jenq-Wen

    2014-01-01

    Peritonitis is a major complication of peritoneal dialysis (PD) and remains the most common cause of PD failure. Micrococci are catalase-positive, coagulase-negative, and gram-positive cocci that are spherical, often found in tetrad, and belong to the family Micrococcaceae. Micrococcus species are commonly found in the environment, and it is now recognized that Micrococcus species can be opportunistic pathogens in immunocompromised patients. The only consistent predisposing factor for Micrococcus infection is an immunocompromised state. We report three cases of Micrococcus PD peritonitis. Improper practice of PD may have been the causative factor. Although Micrococcus species are low-virulence pathogens, infection could result in refractory peritonitis and subsequent PD failure. Intraperitoneal administration of vancomycin for at least 2 weeks is recommended for Micrococcus peritonitis.

  10. Evidence for induction of cytochrome P-450I in patients with tropical chronic pancreatitis.

    Science.gov (United States)

    Chaloner, C; Sandle, L N; Mohan, V; Snehalatha, C; Viswanathan, M; Braganza, J M

    1990-06-01

    Theophylline kinetics, as an in vivo probe for the potentially toxic cytochrome P-450I pathway of drug metabolism, were studied in 11 healthy volunteers and 11 patients with calcific chronic pancreatitis at Madras, South India. Theophylline clearance was faster in the patients than controls [median 69 (range 39-114) vs 45 (33-56) ml h-1 kg-1, p = 0.003]. In keeping with this finding, detailed social histories identified a higher exposure level in the patients to xenobiotics that are inducers of cytochrome P-450I and/or yield reactive metabolites upon processing thereby (score 7, 4-11 vs 3, 2-9, p = 0.002). However, the concentration of D-glucaric acid in urine, as a marker of phase II conjugating pathways of drug metabolism, was similar in patients and controls. This pattern of drug metabolism could predispose to oxidant stress: hence micronutrient antioxidant supplements may have therapeutic (or even prophylactic) value in tropical chronic pancreatitis.

  11. Selective reactivation of human herpesvirus 6 in patients with autoimmune connective tissue diseases.

    Science.gov (United States)

    Broccolo, Francesco; Drago, Francesco; Cassina, Giulia; Fava, Andrea; Fusetti, Lisa; Matteoli, Barbara; Ceccherini-Nelli, Luca; Sabbadini, Maria Grazia; Lusso, Paolo; Parodi, Aurora; Malnati, Mauro S

    2013-11-01

    Viral infections have been associated with autoimmune connective tissue diseases. To evaluate whether active infection by Epstein-Barr virus (EBV), cytomegalovirus (CMV), human herpesvirus (HHV)-6, -7, -8, as well as parvovirus B19 (B19V) occur in patients with autoimmune connective tissue diseases, viral DNA loads were assessed in paired samples of serum and peripheral blood mononuclear cells (PBMCs) of 115 patients affected by different disorders, including systemic sclerosis, systemic, and discoid lupus erythematosus, rheumatoid arthritis, and dermatomyositis. Two additional groups, patients affected by inflammatory diseases (n=51) and healthy subjects (n=58) were studied as controls. The titers of anti-HHV-6 and anti-EBV antibodies were also evaluated. Cell-free HHV-6 serum viremia was detected in a significantly higher proportion of connective tissue diseases patients compared to controls (Preactivation and the active disease state was found only for lupus erythematosus (P=0.021). By contrast, the rate of cell-free EBV viremia was similar in patients and controls groups. Cell-free CMV, HHV-8, and B19V viremia was not detected in any subject. Anti-HHV-6 and anti-EBV early antigen IgG titers were both significantly higher in autoimmune diseases patients as compared to healthy controls, although they were not associated with the presence of viremia. EBV, HHV-6, -7 prevalence and viral load in PBMCs of patients with connective tissue diseases and controls were similar. These data suggest that HHV-6 may act as a pathogenic factor predisposing patients to the development of autoimmune connective tissue diseases or, conversely, that these disorders may predispose patients to HHV-6 reactivation. © 2013 Wiley Periodicals, Inc.

  12. Towards safer surgery in patients with sickle cell disease

    International Nuclear Information System (INIS)

    Meshikhes, Abdul-Wahed N.

    2007-01-01

    Surgery in patients with sickle cell disease (SCD) has been associated with high morbidity and mortality. In recent years, a marked improvement in the safety of surgery and anesthesia in this high-risk group of patients has been witnessed; owing to the improvements in surgical and anesthetic care, greater awareness of pathophysiology of disease, proper perioperative preparation and attention to factors predisposing to vasoocclusive crises. However, this is not paralleled by similar improvement in countries where the disease is not prevalent. Greater population mobility in recent years makes recognition of surgical manifestations of the disease and awareness of perioperative management of sickle cell patients undergoing surgical interventions of paramount importance. This article aims to summarize steps towards safer surgery in patients with SCD. (author)

  13. Autologous Graft versus Host Disease: An Emerging Complication in Patients with Multiple Myeloma

    Directory of Open Access Journals (Sweden)

    Anu Batra

    2014-01-01

    Full Text Available Autologous graft versus host disease (autoGVHD is a rare transplant complication with significant morbidity and mortality. It has been hypothesized that patients with multiple myeloma might be predisposed to autoGVHD through dysregulation of the immune response resulting from either their disease, the immunomodulatory agents (IMiDs used to treat it, or transplant conditioning regimen. Hematopoietic progenitor cell (HPC products were available from 8 multiple myeloma patients with biopsy-proven autoGVHD, 16 matched multiple myeloma patients who did not develop autoGVHD, and 7 healthy research donors. The data on number of transplants prior to developing autoGVHD, mobilization regimens, exposure to proteasome inhibitors, use of IMiDs, and class I human leukocyte antigen types (HLA A and B were collected. The HPC products were analyzed by flow cytometry for expression of CD3, CD4, CD8, CD25, CD56, and FoxP3. CD3+ cell number was significantly lower in autoGVHD patients compared to unaffected controls (P=0.047. On subset analysis of CD3+ cells, CD8+ cells (but not CD4+ cells were found to be significantly lower in patients with autoGVHD (P=0.038. HLA-B55 expression was significantly associated with development of autoGVHD (P=0.032. Lower percentages of CD3+ and CD8+ T-cells and HLA-B55 expression may be predisposing factors for developing autoGVHD in myeloma.

  14. Palliative care in advanced cancer patients in a tertiary care hospital in Uttarakhand

    Directory of Open Access Journals (Sweden)

    Manisha Bisht

    2008-01-01

    Full Text Available Aim: Advanced cancer, irrespective of the site of the cancer, is characterized by a number of associated symptoms that impair the quality of life of patients. The management of these symptoms guides palliative care. The present study aims to describe the symptoms and appropriate palliation provided in patients with advanced cancer in a tertiary care hospital in Uttarakhand. Methods: This was an observational study. A total of 100 patients with advanced cancer were included in the study. The data obtained from the patients included symptoms reported by the patients, currently prescribed treatments and the site of cancer. Results: The average number of symptoms reported per patient was 5.33 ± 0.67 (mean ± SE. The most common symptoms were pain, weakness/fatigue, anorexia, insomnia, nausea/vomiting, dyspnea, constipation and cough. Polypharmacy was frequent. Patients consumed approximately 8.7 ± 0.38 (mean ± SE drugs on average during the 2-month period of follow-up. Conclusion: The result gives insight into the varied symptomatology of patients with advanced cancer. Polypharmacy was quite common in patients with advanced cancer, predisposing them to complicated drug interactions and adverse drug reactions.

  15. Improving outcomes in patients with psoriasis.

    Science.gov (United States)

    Tidman, Michael J

    2013-01-01

    Psoriasis is a heterogeneous inflammatory disorder that targets the skin and joints. It affects 1.3-2% of the population. The diagnosis of plaque psoriasis is usually straightforward, a helpful diagnostic clue is the tendency for silver scales to appear after gentle scratching of a lesion. Stress, streptococcal infection and drugs including beta-blockers, antimalarials and lithium may precipitate or exacerbate psoriasis. Psoriasis, especially when severe, predisposes to metabolic syndrome, and patients with psoriasis are at increased risk of ischaemic heart disease, hypertension, stroke, type 2 diabetes and hyperlipidaemia. Additionally, psoriasis sufferers appear at increased risk of uveitis, inflammatory boweldisease, lymphoma, non-melanoma skin cancer, COPD and venous thromboembolism. Psoriasis should be assessed on the basis of: severity, impact on physical, psychological and social wellbeing, symptoms of arthritis and the presence of comorbidities. Poor response to topical therapy may be as much to do with lack of compliance as with lack of efficacy. The number of treatments each day should be kept to a minimum, and patients should be reviewed after four weeks when initiating or changing topical therapy to improve adherence to treatment and assess response. The majority of patients with psoriasis can be managed in primary care, although specialist care may be necessary at some point in up to 60% of cases. Patients with erythrodermic or generalised pustular psoriasis should be referred for a same day dermatological opinion, and if psoriatic arthritis is suspected, early referral for a rheumatological opinion is recommended.

  16. AprioriGWAS, a new pattern mining strategy for detecting genetic variants associated with disease through interaction effects.

    Science.gov (United States)

    Zhang, Qingrun; Long, Quan; Ott, Jurg

    2014-06-01

    Identifying gene-gene interaction is a hot topic in genome wide association studies. Two fundamental challenges are: (1) how to smartly identify combinations of variants that may be associated with the trait from astronomical number of all possible combinations; and (2) how to test epistatic interaction when all potential combinations are available. We developed AprioriGWAS, which brings two innovations. (1) Based on Apriori, a successful method in field of Frequent Itemset Mining (FIM) in which a pattern growth strategy is leveraged to effectively and accurately reduce search space, AprioriGWAS can efficiently identify genetically associated genotype patterns. (2) To test the hypotheses of epistasis, we adopt a new conditional permutation procedure to obtain reliable statistical inference of Pearson's chi-square test for the [Formula: see text] contingency table generated by associated variants. By applying AprioriGWAS to age-related macular degeneration (AMD) data, we found that: (1) angiopoietin 1 (ANGPT1) and four retinal genes interact with Complement Factor H (CFH). (2) GO term "glycosaminoglycan biosynthetic process" was enriched in AMD interacting genes. The epistatic interactions newly found by AprioriGWAS on AMD data are likely true interactions, since genes interacting with CFH are retinal genes, and GO term enrichment also verified that interaction between glycosaminoglycans (GAGs) and CFH plays an important role in disease pathology of AMD. By applying AprioriGWAS on Bipolar disorder in WTCCC data, we found variants without marginal effect show significant interactions. For example, multiple-SNP genotype patterns inside gene GABRB2 and GRIA1 (AMPA subunit 1 receptor gene). AMPARs are found in many parts of the brain and are the most commonly found receptor in the nervous system. The GABRB2 mediates the fastest inhibitory synaptic transmission in the central nervous system. GRIA1 and GABRB2 are relevant to mental disorders supported by multiple

  17. Factors affecting time of access of in-patient care at Webuye District hospital, Kenya

    Directory of Open Access Journals (Sweden)

    Maxwell M. Lodenyo

    2016-10-01

    Conclusion: Ten-year increment in age, perception of a supernatural cause of illness(predisposing factors, having an illness that is considered bearable and belief in the effectiveness of treatment offered in-hospital (need factors affect time of access of in-patient healthcare services in the community served by Webuye District hospital and should inform interventions geared towards improving access.

  18. Family History in Young Patients With Stroke.

    Science.gov (United States)

    Thijs, Vincent; Grittner, Ulrike; Dichgans, Martin; Enzinger, Christian; Fazekas, Franz; Giese, Anne-Katrin; Kessler, Christof; Kolodny, Edwin; Kropp, Peter; Martus, Peter; Norrving, Bo; Ringelstein, Erich Bernd; Rothwell, Peter M; Schmidt, Reinhold; Tanislav, Christian; Tatlisumak, Turgut; von Sarnowski, Bettina; Rolfs, Arndt

    2015-07-01

    Family history of stroke is an established risk factor for stroke. We evaluated whether family history of stroke predisposed to certain stroke subtypes and whether it differed by sex in young patients with stroke. We used data from the Stroke in Fabry Patients study, a large prospective, hospital-based, screening study for Fabry disease in young patients (aged stroke in whom cardiovascular risk factors and family history of stroke were obtained and detailed stroke subtyping was performed. A family history of stroke was present in 1578 of 4232 transient ischemic attack and ischemic stroke patients (37.3%). Female patients more often had a history of stroke in the maternal lineage (P=0.027) than in the paternal lineage. There was no association with stroke subtype according to Trial of Org 10172 in Acute Stroke Treatment nor with the presence of white matter disease on brain imaging. Patients with dissection less frequently reported a family history of stroke (30.4% versus 36.3%; P=0.018). Patients with a parental history of stroke more commonly had siblings with stroke (3.6% versus 2.6%; P=0.047). Although present in about a third of patients, a family history of stroke is not specifically related to stroke pathogenic subtypes in patients with young stroke. Young women with stroke more often report stroke in the maternal lineage. URL: http://www.clinicaltrials.gov. Unique identifier: NCT00414583. © 2015 American Heart Association, Inc.

  19. Deep sequencing of atrial fibrillation patients with mitral valve regurgitation shows no evidence of mosaicism but reveals novel rare germline variants

    DEFF Research Database (Denmark)

    Gregers, Emilie; Ahlberg, Gustav; Christensen, Thea

    2017-01-01

    the HaloPlex Target Enrichment System. MuTect software was used for identification of somatic point variants. We functionally characterized selected variants using electrophysiologic techniques. RESULTS: No somatic variants were identified in the cardiac tissue. Thirty-three patients (75%) had a rare...... patient population undergoing surgery for mitral valve regurgitation (MVR) to determine whether these patients are genetically predisposed to AF. METHODS: DNA was extracted from blood and left atrial tissue from 44 AF patients with MVR. Using next-generation sequencing, we investigated 110 genes using...... germline variation in ≥1 candidate genes. Fourteen variants were novel. Fifteen variants were predicted damaging or likely damaging in ≥6 in silico predictions. We identified rare variants in genes never directly associated with AF: KCNE4, SCN4B, NEURL1, and CAND2. Interestingly, 7 patients (16%) had...

  20. Prophylactic treatment of the fellow eye of patients with retinal detachment: a retrospective study.

    Science.gov (United States)

    Avitabile, Teresio; Bonfiglio, Vincenza; Reibaldi, Michele; Torrisi, Benedetto; Reibaldi, Alfredo

    2004-03-01

    Controversy exists over the prophylactic treatment of predisposing lesions to prevent retinal detachment. Seven hundred sixty consecutive phakic fellow eyes with rhegmatogenous retinal detachment in the first eye were examined by the same vitreoretinal surgeon before detachment surgery and for a follow-up period ranging from 1 to 72 months, with a mean of 36 months. During this period, in 305 fellow eyes (40.1%) predisposing retinal lesions were present and prophylactic treatments (photocoagulation, cryotherapy or scleral buckle) were performed independently of vitreous status. The results were then compared with the incidence of bilateral RD without prophylaxis reported in Folk and Burton's study of 1982; the two study's data were well matched and showed no significant difference in regards to age, sex, incidence myopia > or =-2.5 and incidence of lattice degeneration. The objective was to investigate whether or not prophylactic treatment is able to avert retinal detachment in the fellow eye. The age of the patients with peripheral retinal lesions was correlated inversely with the presence of myopia. Nine eyes out of 305 eyes treated (2.9%) developed a retinal detachment, reducing the rate of bilateral retinal detachment to 1.2% (9 eyes out of 760). This incidence of bilaterality (1.2%) was lower than the incidence of retinal detachment in fellow eyes not prophylactically treated as reported in the literature, and there exists a highly statistically significant difference between this study's data of 1.2% after prophylaxis and a 13.4% rate of bilaterality as reported by Folk without prophylaxis (P=0.0000).

  1. Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia.

    Science.gov (United States)

    Rangaraju, Advithi; Krishnan, Shuba; Aparna, G; Sankaran, Satish; Mannan, Ashraf U; Rao, B Hygriv

    2018-01-30

    Electrical storm (ES) is a life threatening clinical situation. Though a few clinical pointers exist, the occurrence of ES in a patient with remote myocardial infarction (MI) is generally unpredictable. Genetic markers for this entity have not been studied. In the present study, we carried out genetic screening in patients with remote myocardial infarction presenting with ES by next generation sequencing and identified 25 rare variants in 19 genes predominantly in RYR2, SCN5A, KCNJ11, KCNE1 and KCNH2, CACNA1B, CACNA1C, CACNA1D and desmosomal genes - DSP and DSG2 that could potentially be implicated in electrical storm. These genes have been previously reported to be associated with inherited syndromes of Sudden Cardiac Death. The present study suggests that the genetic architecture in patients with remote MI and ES of unstable ventricular tachycardia may be similar to that of Ion channelopathies. Identification of these variants may identify post MI patients who are predisposed to develop electrical storm and help in risk stratification. Copyright © 2018 Indian Heart Rhythm Society. Production and hosting by Elsevier B.V. All rights reserved.

  2. Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.

    Science.gov (United States)

    Bruwer, Zandrè; Algar, Ursula; Vorster, Alvera; Fieggen, Karen; Davidson, Alan; Goldberg, Paul; Wainwright, Helen; Ramesar, Rajkumar

    2014-04-01

    Biallelic germline mutations in mismatch repair genes predispose to constitutional mismatch repair deficiency syndrome (CMMR-D). The condition is characterized by a broad spectrum of early-onset tumors, including hematological, brain and bowel and is frequently associated with features of Neurofibromatosis type 1. Few definitive screening recommendations have been suggested and no published reports have described predictive testing. We report on the first case of predictive testing for CMMR-D following the identification of two non-consanguineous parents, with the same heterozygous mutation in MLH1: c.1528C > T. The genetic counseling offered to the family, for their two at-risk daughters, is discussed with a focus on the ethical considerations of testing children for known cancer-causing variants. The challenges that are encountered when reporting on heterozygosity in a child younger than 18 years (disclosure of carrier status and risk for Lynch syndrome), when discovered during testing for homozygosity, are addressed. In addition, the identification of CMMR-D in a three year old, and the recommended clinical surveillance that was proposed for this individual is discussed. Despite predictive testing and presymptomatic screening, the sudden death of the child with CMMR-D syndrome occurred 6 months after her last surveillance MRI. This report further highlights the difficulty of developing guidelines, as a result of the rarity of cases and diversity of presentation.

  3. [Vascular trombosis of renal graft: 9 cases].

    Science.gov (United States)

    Kaaroud, Hayet; Béji, Soumaya; Ben Hamida, Fethi; Rais, Lamia; Ben Abdallah, Taieb; El Younsi, Fethi; Ben Moussa, Fatma; Abderrahim, Ezzedine; Bardi, Rafika; Ayed, Khaled; Chebil, Mohamed; Kheder, Adel

    2008-04-01

    Allograft renal thrombosis can occur in 1 to 6% of cases. Many predisposing factors has been identified especially alteration of coagulation. We analyzed in this study frequency and predisposing factors of renal graft thrombosis. We report a retrospective study including 319 renal transplant recipients. Nine patients (2.8%) presented veinous graft thrombosis in 5 cases and arterial thombosis in 4 cases. There were 6 men and 3 women aged of 30.6 years meanly (10-56) which developed the thrombosis 6 days (1-48) after the transplantation. All patients were detransplanted after 16.2 days and 1 patient died. Thrombosis constitute an important cause of graft loss. A perfect surgical technic and prophylactic treatment in high risk patients are necessary to reduce this complication.

  4. Oral exposure to culture material extract containing fumonisins predisposes swine to the development of pneumonitis caused by Pasteurella multocida

    International Nuclear Information System (INIS)

    Halloy, David J.; Gustin, Pascal G.; Bouhet, Sandrine; Oswald, Isabelle P.

    2005-01-01

    Fumonisin B 1 (FB 1 ) is a mycotoxin produced by Fusarium verticillioides and F. proliferatum that commonly occurs in maize. In swine, consumption of contaminated feed induces liver damage and pulmonary edema. Pasteurella multocida is a secondary pathogen, which can generate a respiratory disorder in predisposed pigs. In this study, we examined the effect of oral exposure to fumonisin-containing culture material on lung inflammation caused by P. multocida. Piglets received by gavage a crude extract of fumonisin, 0.5 mg FB 1 /kg body weight/day, for 7 days. One day later, the animals were instilled intratracheally with a non toxin producing type A strain of P. multocida and followed up for 13 additional days. Pig weight and cough frequency were measured throughout the experiment. Lung lesions, bronchoalveolar lavage fluid (BALF) cell composition and the expression of inflammatory cytokines were evaluated at the autopsy. Ingestion of fumonisin culture material or infection with P. multocida did not affect weight gain, induced no clinical sign or lung lesion, and only had minimal effect on BALF cell composition. Ingestion of mycotoxin extract increased the expression of IL-8, IL-18 and IFN-γ mRNA compared with P. multocida infection that increased the expression of TNF-α. The combined treatment with fumonisin culture material and P. multocida delayed growth, induced cough, and increased BALF total cells, macrophages and lymphocytes. Lung lesions were significantly enhanced in these animals and consisted of subacute interstitial pneumonia. TNF-α, IFN-γ and IL-18 mRNA expression was also increased. Taken together, our data showed that fumonisin culture material is a predisposing factor to lung inflammation. These results may have implications for humans and animals consuming FB 1 contaminated food or feed

  5. Oral exposure to culture material extract containing fumonisins predisposes swine to the development of pneumonitis caused by Pasteurella multocida

    Energy Technology Data Exchange (ETDEWEB)

    Halloy, David J [Department of Functional Sciences, Unit of Pharmacology, Pharmacotherapy and Toxicology, Faculty of Veterinary Medicine, University of Liege, Liege (Belgium); Gustin, Pascal G [Department of Functional Sciences, Unit of Pharmacology, Pharmacotherapy and Toxicology, Faculty of Veterinary Medicine, University of Liege, Liege (Belgium); Bouhet, Sandrine [INRA, UR66, Laboratory of Pharmacology and Toxicology, 180 Chemin de Tournefeuille, BP3, 31931 Toulouse (France); Oswald, Isabelle P [INRA, UR66, Laboratory of Pharmacology and Toxicology, 180 Chemin de Tournefeuille, BP3, 31931 Toulouse (France)

    2005-09-15

    Fumonisin B{sub 1} (FB{sub 1}) is a mycotoxin produced by Fusarium verticillioides and F. proliferatum that commonly occurs in maize. In swine, consumption of contaminated feed induces liver damage and pulmonary edema. Pasteurella multocida is a secondary pathogen, which can generate a respiratory disorder in predisposed pigs. In this study, we examined the effect of oral exposure to fumonisin-containing culture material on lung inflammation caused by P. multocida. Piglets received by gavage a crude extract of fumonisin, 0.5 mg FB{sub 1}/kg body weight/day, for 7 days. One day later, the animals were instilled intratracheally with a non toxin producing type A strain of P. multocida and followed up for 13 additional days. Pig weight and cough frequency were measured throughout the experiment. Lung lesions, bronchoalveolar lavage fluid (BALF) cell composition and the expression of inflammatory cytokines were evaluated at the autopsy. Ingestion of fumonisin culture material or infection with P. multocida did not affect weight gain, induced no clinical sign or lung lesion, and only had minimal effect on BALF cell composition. Ingestion of mycotoxin extract increased the expression of IL-8, IL-18 and IFN-{gamma} mRNA compared with P. multocida infection that increased the expression of TNF-{alpha}. The combined treatment with fumonisin culture material and P. multocida delayed growth, induced cough, and increased BALF total cells, macrophages and lymphocytes. Lung lesions were significantly enhanced in these animals and consisted of subacute interstitial pneumonia. TNF-{alpha}, IFN-{gamma} and IL-18 mRNA expression was also increased. Taken together, our data showed that fumonisin culture material is a predisposing factor to lung inflammation. These results may have implications for humans and animals consuming FB{sub 1} contaminated food or feed.

  6. Meningitis caused by streptococci other than Streptococcus pneumoniae: a retrospective clinical study

    DEFF Research Database (Denmark)

    Møller, Kirsten; Harder, Eva; Wandall, Johan

    1999-01-01

    We reviewed the medical records of 26 patients (median age 62 years, range 5-76 years) admitted to our institution during 1978-98 with acute bacterial meningitis (ABM) caused by streptococci other than Streptococcus pneumoniae (comprising 1.9% of all patients with ABM). 19 cases were community......-acquired and 7 were nosocomial. 73% had comorbid or predisposing conditions and 73% had an identifiable extracerebral focus; only in 2 patients no comorbid disease, primary focus or predisposing condition was present. Five patients had cerebral abscesses, and 5 had endocarditis. Beta-haemolytic streptococci were...... grown in 14 cases (serotype A: 4, B: 5, C: 1, G: 4) and were predominant among patients with endocarditis, whereas alpha- or non-haemolytic strains grew in 12 cases (S. mitis: 4, S. constellatus: 2, E. faecalis: 2, S. bovis: 1, unspecified: 3) and were predominant in patients with a brain abscess...

  7. Kinked and retained nasogastric tube in polytrauma patient; a case report

    Directory of Open Access Journals (Sweden)

    Kumar Ashok

    2017-06-01

    Full Text Available Enteral feeding is an important and preferred technique of feeding in head injury patient to provide nutrition. As inadequate nutrition causes decrease in physical ability, neurological impairment and takes a long time for improvement or delayed deterioratation. With our best knowledge kinked and retained nasogastric tube in stomach is a very rare complication of feeding in head injuries patients. Predisposing factors that can cause kinking is excess tube length, tube in situ for long time and small bore tube. We are reporting one such case of kinked and retained nasogastric tube in the stomach of a polytrauma patient which was retrieved by upper GI endoscope.

  8. Patellar SPECT and planar imaging in orthopedic patients with knee pain

    International Nuclear Information System (INIS)

    Dehdashti, F.; Collier, B.D.; Johnson, R.P.; Isitman, A.T.; Hellman, R.S.; Carrera, G.F.; Krasnow, A.Z.

    1987-01-01

    Eighty-five painful knees in 56 patients were independently evaluated clinically, radiographically, and scintigraphically. All patients had an established final diagnosis of osteoarthritis or other predisposing conditions. Results of patellar bone scintigraphy were abnormal in 66 of 85 knees; there were ten isolated findings and 12 cases of medial, nine of lateral, and 35 of triple compartment involvement. Four-quadrant patellar analysis identified nine instances of isolated lateal patellar facet syndrome. Single-photon emission CT was of significant value in localizing patellar abnormalities. Radiographic evaluation disclosed osteoarthritis in 27 of 66 scintigraphically abnormal knees. Patellar bone scintigraphy is more valuable than radiography for evaluating adult orthopedic patients with knee pain

  9. Pitfalls and complications in the treatment of cervical spine fractures in patients with ankylosing spondylitis

    Directory of Open Access Journals (Sweden)

    Tschoeke Sven K

    2008-06-01

    Full Text Available Abstract Patients with ankylosing spondylitis are at significant risk for sustaining cervical spine injuries following trauma predisposed by kyphosis, stiffness and osteoporotic bone quality of the spine. The risk of sustaining neurological deficits in this patient population is higher than average. The present review article provides an outline on the specific injury patterns in the cervical spine, diagnostic algorithms and specific treatment modalities dictated by the underlying disease in patients with ankylosing spondylitis. An emphasis is placed on the risks and complication patterns in the treatment of these rare, but challenging injuries.

  10. Rib cage deformity during two-stage tissue expander breast reconstruction in patient with previous radiotherapy: a case report

    Directory of Open Access Journals (Sweden)

    Aleš Porčnik

    2016-02-01

    Full Text Available Patients undergoing two-stage breast reconstruction with tissue expander and a history of previous irradiation are predisposed to a various chest-wall deformations more than non-irradiated patients. If chest-wall depression with/without rib fracture is found intra-operatively, bigger implant should be used, with a subsequent radiologic evaluation. In the future, the development of a new, modified expander with a harder base could minimise such complications.

  11. Fob1 and Fob2 proteins are virulence determinants of Rhizopus oryzae via facilitating iron uptake from ferrioxamine

    Science.gov (United States)

    Dialysis patients with chronic renal failure receiving deferoxamine for treating iron overload are uniquely predisposed for mucormycosis. Although not secreted by Mucorales, previous studies established that Rhizopus species utilize iron from ferrioxamine (iron-rich form of deferoxamine). Here we de...

  12. Microbiology of Peritonitis in Peritoneal Dialysis Patients with Multiple Episodes

    Science.gov (United States)

    Nessim, Sharon J.; Nisenbaum, Rosane; Bargman, Joanne M.; Jassal, Sarbjit V.

    2012-01-01

    ♦ Background: Peritoneal dialysis (PD)–associated peritonitis clusters within patients. Patient factors contribute to peritonitis risk, but there is also entrapment of organisms within the biofilm that forms on PD catheters. It is hypothesized that this biofilm may prevent complete eradication of organisms, predisposing to multiple infections with the same organism. ♦ Methods: Using data collected in the Canadian multicenter Baxter POET (Peritonitis, Organism, Exit sites, Tunnel infections) database from 1996 to 2005, we studied incident PD patients with 2 or more peritonitis episodes. We determined the proportion of patients with 2 or more episodes caused by the same organism. In addition, using a multivariate logistic regression model, we tested whether prior peritonitis with a given organism predicted the occurrence of a subsequent episode with the same organism. ♦ Results: During their time on PD, 558 patients experienced 2 or more peritonitis episodes. Of those 558 patients, 181 (32%) had at least 2 episodes with the same organism. The organism most commonly causing repeat infection was coagulase-negative Staphylococcus (CNS), accounting for 65.7% of cases. Compared with peritonitis caused by other organisms, a first CNS peritonitis episode was associated with an increased risk of subsequent CNS peritonitis within 1 year (odds ratio: 2.1; 95% confidence interval: 1.5 to 2.8; p peritonitis, 48% of repeat episodes occurred within 6 months of the earlier episode. ♦ Conclusions: In contrast to previous data, we did not find a high proportion of patients with multiple peritonitis episodes caused by the same organism. Coagulase-negative Staphylococcus was the organism most likely to cause peritonitis more than once in a given patient, and a prior CNS peritonitis was associated with an increased risk of CNS peritonitis within the subsequent year. PMID:22215659

  13. Secondary pigmentary glaucoma in patients with underlying primary pigment dispersion syndrome

    OpenAIRE

    Sivaraman, Kavitha R; Patel, Chirag G; Vajaranant, Thasarat S; Aref, Ahmad A

    2013-01-01

    Kavitha R Sivaraman, Chirag G Patel, Thasarat S Vajaranant, Ahmad A ArefDepartment of Ophthalmology and Visual Sciences, Illinois Eye and Ear Infirmary, University of Illinois at Chicago School of Medicine, Chicago, IL, USAAbstract: Primary pigment dispersion syndrome (PPDS) is a bilateral condition that occurs in anatomically predisposed individuals. PPDS may evolve into pigmentary glaucoma, but it is difficult to predict which patients will progress. Secondary pigment dispersion is more oft...

  14. Postsurgical complications in patients with renal tumours with venous thrombosis treated with surgery.

    Science.gov (United States)

    Caño-Velasco, J; Herranz-Amo, F; Barbas-Bernardos, G; Mayor-de Castro, J; Aragón-Chamizo, J; Arnal-Chacón, G; Lledó García, E; Hernández-Fernández, C

    2018-04-06

    Surgery on renal tumours with venous thrombosis suffers a high rate of complications and non-negligible perioperative mortality. Our objective was to analyse the postoperative complications, their relationship with the level of the thrombus and its potential predisposing factors. A retrospective analysis was conducted of 101 patients with renal tumours with venous thrombosis operated on between 1988 and 2017. Two patients were excluded because of intraoperative pulmonary thromboembolism and exitus (2%). The postsurgical complications were classified according to Clavien-Dindo. To compare the qualitative variables, we employed the chi-squared test. We performed a multivariate analysis using binary logistic regression to identify the independent predictors. Some type of postsurgical complication occurred in 34 (34.3%) patients, 11 (11.1%) of which were severe (Clavien III-V). There were significant differences in the total complications (P=.003) and severe complications (Clavien≥III; P=.03) depending on the level of the tumour thrombus. Copyright © 2018 AEU. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. Etiologies of coronary artery disease in cancer patients

    International Nuclear Information System (INIS)

    Kopelson, G.; Herwig, K.J.

    1978-01-01

    The growing number of patient reports of angina and myocardial infarction during cancer management prompted this review of coronary artery disease (CAD) in cancer patients. There is no definite evidence that cancer per se nor any particular tumor type predisposes to coronary atherosclerosis. Cardiac metastases can cause CAD via tumor emboli, extrinsic compression, or ostial obstruction; in these patients the diagnosis of CAD as a result of cardiac metastases often is not made until death. The course of these patients usually is fulminant. Tumor-associated coagulation disorders and non-bacterial thrombotic endocarditis can cause coronary thromboemboli; treatment should be initiated early as these patients often are not in a terminal state when such CAD develops. Post-radiation CAD seen in experimental animals (via fibrosis and/or accelerated atherogenesis) can be extrapolated to the clinical situation. This is best evidenced by 10 young patients, with minimal coronary risk factors in most, who developed angina and/or myocardial infarction 2 to 100 months after chest radiotherapy; approximate mediastinal doses ranged from 1440 Roentgen to 5075 rad. In 5 patients there was no significant atherosclerosis beyond the radiation portals; 2 had successful saphenous vein bypass grafts. Lipid-lowering therapy may prevent post-radiotherapy atherogenesis in high risk individuals. Chemotherapy (acting directly or synergistically with radiotherapy) has caused angina and myocardial infarction within hours to days after the infusion of agents both classically cardiotoxic as well as others, although the exact mechanism(s) for coronary artery damage as a result of chemotherapy presently is unknown

  16. "Rigor mortis" in a live patient.

    Science.gov (United States)

    Chakravarthy, Murali

    2010-03-01

    Rigor mortis is conventionally a postmortem change. Its occurrence suggests that death has occurred at least a few hours ago. The authors report a case of "Rigor Mortis" in a live patient after cardiac surgery. The likely factors that may have predisposed such premortem muscle stiffening in the reported patient are, intense low cardiac output status, use of unusually high dose of inotropic and vasopressor agents and likely sepsis. Such an event may be of importance while determining the time of death in individuals such as described in the report. It may also suggest requirement of careful examination of patients with muscle stiffening prior to declaration of death. This report is being published to point out the likely controversies that might arise out of muscle stiffening, which should not always be termed rigor mortis and/ or postmortem.

  17. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.

    Science.gov (United States)

    Pierrache, Laurence H M; Hartel, Bas P; van Wijk, Erwin; Meester-Smoor, Magda A; Cremers, Frans P M; de Baere, Elfride; de Zaeytijd, Julie; van Schooneveld, Mary J; Cremers, Cor W R J; Dagnelie, Gislin; Hoyng, Carel B; Bergen, Arthur A; Leroy, Bart P; Pennings, Ronald J E; van den Born, L Ingeborgh; Klaver, Caroline C W

    2016-05-01

    USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. We studied genotype-phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP. Clinic-based, longitudinal, multicenter study. Consecutive patients with Usher syndrome type IIa (n = 152) and nonsyndromic RP (n = 73) resulting from USH2A mutations from ophthalmogenetic clinics in the Netherlands and Belgium. Data on clinical characteristics, visual acuity, visual field measurements, retinal imaging, and electrophysiologic features were extracted from medical charts over a mean follow-up of 9 years. Cumulative lifetime risks of low vision and blindness were estimated using Kaplan-Meier survival analysis. Low vision and blindness. Participant groups had similar distributions of gender (48% vs. 45% males in Usher syndrome type IIa vs. nonsydromic RP; P = 0.8), ethnicity (97% vs. 99% European; P = 0.3), and median follow-up time (6.5 years vs. 3 years; P = 0.3). Usher syndrome type IIa patients demonstrated symptoms at a younger age (median age, 15 years vs. 25 years; P syndromic phenotype, whereas other combinations were present in both groups. We found novel variants in Usher syndrome type IIa (25%) and nonsyndromic RP (19%): 29 missense mutations, 10 indels, 14 nonsense mutations, 9 frameshift mutations, and 5 splice-site mutations. Most patients with USH2A-associated RP have severe visual impairment by age 50. However, those with Usher syndrome type IIa have an earlier decline of visual function and a higher cumulative risk of visual impairment than those without nonsyndromic RP. Complete loss of function of the USH2A protein predisposes to Usher syndrome type IIa, but remnant protein function can lead to RP with or without hearing loss. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  18. Macrophages and dendritic cells emerge in the liver during intestinal inflammation and predispose the liver to inflammation.

    Directory of Open Access Journals (Sweden)

    Yohei Mikami

    Full Text Available The liver is a physiological site of immune tolerance, the breakdown of which induces immunity. Liver antigen-presenting cells may be involved in both immune tolerance and activation. Although inflammatory diseases of the liver are frequently associated with inflammatory bowel diseases, the underlying immunological mechanisms remain to be elucidated. Here we report two murine models of inflammatory bowel disease: RAG-2(-/- mice adoptively transferred with CD4(+CD45RB(high T cells; and IL-10(-/- mice, accompanied by the infiltration of mononuclear cells in the liver. Notably, CD11b(-CD11c(lowPDCA-1(+ plasmacytoid dendritic cells (DCs abundantly residing in the liver of normal wild-type mice disappeared in colitic CD4(+CD45RB(high T cell-transferred RAG-2(-/- mice and IL-10(-/- mice in parallel with the emergence of macrophages (Mφs and conventional DCs (cDCs. Furthermore, liver Mφ/cDCs emerging during intestinal inflammation not only promote the proliferation of naïve CD4(+ T cells, but also instruct them to differentiate into IFN-γ-producing Th1 cells in vitro. The emergence of pathological Mφ/cDCs in the liver also occurred in a model of acute dextran sulfate sodium (DSS-induced colitis under specific pathogen-free conditions, but was canceled in germ-free conditions. Last, the Mφ/cDCs that emerged in acute DSS colitis significantly exacerbated Fas-mediated hepatitis. Collectively, intestinal inflammation skews the composition of antigen-presenting cells in the liver through signaling from commensal bacteria and predisposes the liver to inflammation.

  19. Aetiology of pressure sores in patients with spinal cord injury.

    Science.gov (United States)

    Thiyagarajan, C; Silver, J R

    1984-01-01

    One hundred consecutive patients admitted to the National Spinal Injuries Centre, Stoke Mandeville Hospital, with pressure sores were studied to assess the relative importance of factors known to predispose to the development of scores. Loss of feeling was critical, because patients were unable to appreciate pain when the sore was developing. Risk of developing a sore increased with age, but duration of the paralysis was of equal importance. After discharge from hospital the presence of a caring relative or friend was essential for survival. Many patients developed sores because of poor facilities at home or inappropriate advice from those who looked after them. An even more distressing factor was the number of patients who developed sores in hospital owing to inadequate nursing care. There are relatively few paralysed patients in the community, but the lessons learnt in this study may be applied to all patients with orthopaedic injuries and to geriatric patients with limited mobility. Nursing and medical staff must turn patients regularly and ensure that there is proper equipment to relieve pressure on the skin. Patients should not be allowed to sit in a chair if they develop a sacral or trochanteric sore. More effort should be directed towards the appropriate education of patients, their relatives, and all those who are concerned with their welfare. Images FIG 1 FIG 2 FIG 3 PMID:6439284

  20. Licence applications for low and intermediate level waste predisposal facilities: A manual for operators

    International Nuclear Information System (INIS)

    2009-07-01

    This publication covers all predisposal waste management facilities and practices for receipt, pretreatment (sorting, segregation, characterization), treatment, conditioning, internal relocation and storage of low and intermediate level radioactive waste, including disused sealed radioactive sources. The publication contains an Annex presenting the example of a safety assessment for a small radioactive waste storage facility. Facilities dealing with both short lived and long lived low and intermediate level waste generated from nuclear applications and from operation of small nuclear research reactors are included in the scope. Processing and storage facilities for high activity disused sealed sources and sealed sources containing long lived radionuclides are also covered. The publication does not cover facilities processing or storing radioactive waste from nuclear power plants or any other industrial scale nuclear fuel cycle facilities. Disposal facilities are excluded from the scope of this publication. Authorization process can be implemented in several stages, which may start at the site planning and the feasibility study stage and will continue through preliminary design, final design, commissioning, operation and decommissioning stages. This publication covers primarily the authorization needed to take the facility into operation

  1. Fournier’s Gangrene in  a Patient with Obesity and B-lymphoma

    Directory of Open Access Journals (Sweden)

    Christos Komninos

    2013-01-01

    Full Text Available We present a  case of Fournier’s gangrene disease in  a young obese patient with coexistent B-lymphoma. It remains controversial if obesity constitutes a  predisposing factor for an individual to develop necrotizing fasciitis. On the other hand, only few cases of patients with coexistence of B-lymphoma and Fournier’s gangrene disease have been reported.  A 30-years-old obese man was admitted to emergency department with fever (38.7 °C, pain, erythema and swelling extended from the left scrotum to the left lower abdominal quadrant. He was confused, with low urinary excretion and septic shock’s signs. The clinical findings were characteristics of Fournier’s gangrene disease. Furthermore during physical examination a  massive, painless and motionless mass in  the left breast was revealed. The patient required urgent surgical debridement of the affected area and pus drainage. Biopsies of the breast mass were received by excision. Pus and blood cultures yielded Staphylococci coagulase(–, Klebsiella and Proteus sp. Intravenous antibiotic treatment with Meropeneme and Clindamycine started immediately. Repeated debridement was often performed. Pathology examination of the massive tissue revealed a  diffuse B-lymphoma of large cells (Germinal center B-cell like-GCB. The patient was discharged from the hospital 35 days later.  Afterwards, he was treated with chemotherapeutic agents for malignant lymphoma at the oncological department. The aim of this case’s presentation is to mention that young obese patients with Fournier’s gangrene disease should be particularly investigated due to the possible occurrence of another not obvious predisposing factor, such as a  malignant disease.

  2. Braf, Kras and Helicobacter pylori epigenetic changes-associated chronic gastritis in Egyptian patients with and without gastric cancer.

    Science.gov (United States)

    Sabry, Dina; Ahmed, Rasha; Abdalla, Sayed; Fathy, Wael; Eldemery, Ahmed; Elamir, Azza

    2016-06-01

    We aimed to study MLH1 and MGMT methylation status in Helicobacter pylori-associated chronic gastritis in Egyptian patients with and without gastric cancer. 39 patients were included in our study. They were divided into 2 groups; patients without (group I) and with gastric adenocarcinoma (group II). Patients were subjected to clinical examination, abdominal ultrasound and upper endoscopy for gastric biopsy. Biopsies were subjected to urease test, histological examination, and DNA purification. H. pylori, Braf, Kras, MLH1 and MGMT methylation were assessed by quantitative PCR. DNA sequencing was performed to assess Braf and Kras genes mutation. qPCR of H. pylori was significantly higher in patients with adenocarcinoma (group II) than those without adenocarcinoma (group I); with a p gastritis patients. DNA sequence analysis of Braf (codon 12) and Kras (codon 600) had genes mutation in gastric adenocarcinoma versus chronic gastritis. H. pylori may cause epigenetic changes predisposing the patients to cancer stomach. Estimation of H. pylori by qPCR can be a good predictor to adenocarcinoma. Braf and Kras genes mutation were reveled in gastritis and adenocarcinoma patients.

  3. Candida glabrata Esophagitis: Are We Seeing the Emergence of a New Azole-Resistant Pathogen?

    Directory of Open Access Journals (Sweden)

    Aze Wilson

    2014-01-01

    Full Text Available Background. Candida glabrata (C. glabrata has become a recognized pathogen in fungal esophagitis. A proportion of these isolates are azole-resistant which may have treatment implications. Variability in the prevalence of this organism exists in the limited data available. Objective. To determine the incidence of C. glabrata esophagitis in a North American hospital setting and to highlight factors that may predispose patients to this condition. Methods. Patient charts were collected from January 1, 2009 to July 30, 2011. Any charts of patients identified as having esophagitis with a positive fungal culture were reviewed for the species of Candida and the presence of factors that would predispose them to esophageal candidiasis. Results. The prevalence of Candida esophagitis based on culture was 2.2% (37 subjects. C. glabrata was the 2nd most prevalent pathogen identified (24.3% or 9 subjects. Of the C. glabrata cohort, all patients had at least one factor predisposing them to candidiasis. Conclusion. C. glabrata esophagitis makes up a large portion of the candidal esophagitis seen in hospital. C. glabrata infections were associated with at least one risk factor for candidal infection. Given its resistance to azole-based therapy, this may have treatment implications for how candidal esophagitis is approached by the clinician.

  4. Multiple bone and joint disease in a sickle cell anaemia patient: a case report

    Directory of Open Access Journals (Sweden)

    John Ayodele Olaniyi

    2012-05-01

    Multidisciplinary approach was applied to her management and she was finally discharged home on a wheelchair. This case reflects not only the high susceptibility of SCD patients to infection, but also the morbidity and the attendant complications. It also highlights the need to forestall vaso-occlusive crisis (VOC which often predisposes them to developing osteomyelitis. There is a need to have a highly organized, well-equipped and highly subsidized Sickle Cell and rehabilitation Center in order to further improve the care of SCD patients.

  5. Spontaneous Hepatic Infarction in a Patient with Gallbladder Cancer

    Directory of Open Access Journals (Sweden)

    Kang Min Lee

    2016-06-01

    Full Text Available Hepatic infarction is known as a rare disease entity in nontransplant patients. Although a few cases of hepatic infarction have been reported to be linked with invasive procedures, trauma, and hypercoagulability, a case of spontaneous hepatic infarction in a nontransplanted patient has hardly ever been reported. However, many clinical situations of patients with cancer, in particular biliary cancer, can predispose nontransplant patients to hepatic infarction. Besides, the clinical outcome of hepatic infarction in patients with cancer can be worse than in patients with other etiologies. As for treatment, anticoagulation treatment is usually recommended. However, because of its multifactorial etiology and combined complications, treatment of hepatic infarction is difficult and not simple. Herein, we report a case of fatal hepatic infarction that occurred spontaneously during the course of treatment in a patient with gallbladder cancer. Hepatic infarction should be considered as a possible fatal complication in patients during treatment of biliary malignancies.

  6. Gastrointestinal trichostrongylosis can predispose ewes to clinical mastitis after experimental mammary infection.

    Science.gov (United States)

    Mavrogianni, V S; Papadopoulos, E; Gougoulis, D A; Gallidis, E; Ptochos, S; Fragkou, I A; Orfanou, D C; Fthenakis, G C

    2017-10-15

    Objective was to study, in an experimental model, the possible role of gastrointestinal nematode infection in predisposing ewes to mastitis during the lactation period. Twenty-four ewes (A or B [n=12]), free from nematode and trematode helminths, were used. Group A animals received 5000 third-stage larvae of a trichostrongylid helminth cocktail and group B ewes were unparasitised controls. Animals in group A developed gastrointestinal trichostrongylosis confirmed by >500epg in faecal samples; mean epg of group B ewes were Ewes were challenged by deposition of Mannheimia haemolytica into the teat duct. In group A, 7 ewes developed clinical and 5 subclinical mastitis; no ewe in group B developed clinical mastitis, but only subclinical (12 ewes) (P=0.002). M. haemolytica was isolated from 132/132 and 121/132 udder samples from group A or B, respectively (Pewes that developed clinical mastitis than in others which did not (0.709 and 0.162 versus 0.662 and 0.136, respectively; Pewes with subclinical mastitis (in group A or B), inducible-lymphoid-follicles were observed in the teat, which were not observed in ewes with clinical disease. Total pathology scores summed over all days were 127 and 73 for group A or B ewes, respectively (maximum possible 192; Pewes that developed clinical mastitis. It is concluded that, in view of bacterial challenge, gastrointestinal trichostrongylosis and particularly Teladorsagia infection, might lead to clinical mastitis, through various pathogenetic pathways. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Human germline hedgehog pathway mutations predispose to fatty liver.

    Science.gov (United States)

    Guillen-Sacoto, Maria J; Martinez, Ariel F; Abe, Yu; Kruszka, Paul; Weiss, Karin; Everson, Joshua L; Bataller, Ramon; Kleiner, David E; Ward, Jerrold M; Sulik, Kathleen K; Lipinski, Robert J; Solomon, Benjamin D; Muenke, Maximilian

    2017-10-01

    Non-alcoholic fatty liver disease (NAFLD) is the most common form of liver disease. Activation of hedgehog (Hh) signaling has been implicated in the progression of NAFLD and proposed as a therapeutic target; however, the effects of Hh signaling inhibition have not been studied in humans with germline mutations that affect this pathway. Patients with holoprosencephaly (HPE), a disorder associated with germline mutations disrupting Sonic hedgehog (SHH) signaling, were clinically evaluated for NAFLD. A combined mouse model of Hh signaling attenuation (Gli2 heterozygous null: Gli2 +/- ) and diet-induced NAFLD was used to examine aspects of NAFLD and hepatic gene expression profiles, including molecular markers of hepatic fibrosis and inflammation. Patients with HPE had a higher prevalence of liver steatosis compared to the general population, independent of obesity. Exposure of Gli2 +/- mice to fatty liver-inducing diets resulted in increased liver steatosis compared to wild-type mice. Similar to humans, this effect was independent of obesity in the mutant mice and was associated with decreased expression of pro-fibrotic and pro-inflammatory genes, and increased expression of PPARγ, a potent anti-fibrogenic and anti-inflammatory regulator. Interestingly, tumor suppressors p53 and p16INK4 were found to be downregulated in the Gli2 +/- mice exposed to a high-fat diet. Our results indicate that germline mutations disrupting Hh signaling promotes liver steatosis, independent of obesity, with reduced fibrosis. While Hh signaling inhibition has been associated with a better NAFLD prognosis, further studies are required to evaluate the long-term effects of mutations affecting this pathway. Lay summary: Non-alcoholic fatty liver disease (NAFLD) is characterized by excess fat deposition in the liver predominantly due to high calorie intake and a sedentary lifestyle. NAFLD progression is usually accompanied by activation of the Sonic hedgehog (SHH) pathway leading to fibrous

  8. Prevalence of Diabetes Type 1 in Patients Suffered From Multiple Sclerosis

    Directory of Open Access Journals (Sweden)

    Dayer

    2016-04-01

    Full Text Available Background Because IL2RA is considered a predisposing factor in the incidence of both type I diabetes and multiple sclerosis (MS, and considering that both are autoimmune diseases, some studies suggest a correlation between type I diabetes and MS. Objectives The aim of this study was to examine the prevalence of type I diabetes among people with MS. Patients and Methods The study subjects comprised 100 patients with MS from the Khuzestan multiple sclerosis center at rehabilitation school of Jundishapur University of Medical Sciences, whose diagnosis of MS had been confirmed by a specialist, and were not being treated with steroids. Subjects were selected from patients younger than 30 years old. After filling out an application form, 5 mL fasting venous blood and 5 mL after 2 hours were taken. The blood glucose level was measured with a kit (Zist Shimi using the enzymatic method. Results The mean age of the participants was 24.28 years. The rate of type I diabetes was equal to 4% of the total sample, while 18% of all patients had impaired fasting glucose. Conclusions Given the high level of impaired fasting glucose among patients in this study, it is likely that MS provides the basis for the incidence of glucose metabolism disorders. To prove this, further studies with larger sample sizes are required.

  9. Infective Endocarditis in Children in Italy from 2000 to 2015.

    Science.gov (United States)

    Esposito, Susanna; Mayer, Alessandra; Krzysztofiak, Andrzej; Garazzino, Silvia; Lipreri, Rita; Galli, Luisa; Osimani, Patrizia; Fossali, Emilio; Di Gangi, Maria; Lancella, Laura; Denina, Marco; Pattarino, Giulia; Montagnani, Carlotta; Salvini, Filippo; Villani, Alberto; Principi, Nicola; Italian Pediatric Infective Endocarditis Registry

    2016-01-01

    The Italian Society for Pediatric Infectious Diseases created a registry on children with infective endocarditis (IE) hospitalized in Italy. A cross-sectional survey was conducted on patients hospitalized due to IE in Italian paediatric wards between January 1, 2000, and June 30, 2015. Over the 15-year study period, 47 IE episodes were observed (19 males; age range, 2-17 years). Viridans Streptococci were the most common pathogens among patients with predisposing cardiac conditions and Staphylococcus aureus among those without (37.9% vs. 5.5%, p = 0.018, and 6.9% vs. 27.8%, p = 0.089, respectively). Six of the 7 (85.7%) S. aureus strains were methicillin-resistant. The majority of patients with and without predisposing cardiac conditions recovered without any complications. In Italy, paediatric IE develops without any previous predisposing factors in a number of children, methicillin-resistant S. aureus has emerged as a common causative agent and the therapeutic approach is extremely variable.

  10. Predisposing factors of pneumothorax in percutaneous transthoracic fine needle aspiration biopsy: comparison between CT emphysema score and pulmonary function test

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Chang Ho; Park, Kyung Joo; Park, Dong Won; Jung, Kyung Il; Suh, Jung Ho [Ajou Univ. College of Medicine, Seoul (Korea, Republic of)

    1997-11-01

    To compare the CT emphysema score with various factors of pulmonary function test by simple spirometry and to use the result as a predictor of pneumothorax in percutaneous transthoracic fine needle aspiration biopsy. The CT scans of 106 patients who had undergone percutaneous transthoracic fine needle aspiration biopsy of lung lesions within the previous 18 months were retrospectively reviewed. In 75 of these 106 cases, the results of the pulmonary function test were also reviewed. On plain chest radiography, pneumothorax was noted in 20 cases (19%). Emphysema was blindly evaluated. We divided each lung into four segments and determined the severity and involved volume of emphysema, as seen on CT. Severity was classified as one of four grades, as follow : absence of emphysema=0 ; low attenuation area of less than 5mm=1 ; low attenuation area of more than 5mm, and vascular pruning with normal lung intervening=2 ; and diffuse low attenuation without intervening normal lung, and larger confluent low attenuation with vascular pruning and distortion of branching pattern occupying all or almost all the involved parenchyma=3. The involved area was also classified as one of four grades : less than 25%=1 ; 25 - 49%=2 ; 51 - 74%=3 ; and more than 75%=4. The CT emphysema score was defined as the average of the grade of severity multiplied by the grade of involved area. Pulmonary function tests, consisting of simple spirometry and a pulmonologist's interpretation, were evaluated. We also evaluated depth and size of lesion as known predisposing factors in postbioptic pneumothorax. Statistical analysis was performed using the chi-square test, Wilcoxon ranks sum W test and the student t test. A comparison between the two groups of occurrence(with or without pneumothorax) showed the emphysema scores to be 1.69{+-}2.0 and 1.11{+-}2.9, respectively ; there was thus no significant difference between the two groups (z= - 0.048, p>0.10). Nor were differences revealed by the

  11. Predisposing factors of pneumothorax in percutaneous transthoracic fine needle aspiration biopsy: comparison between CT emphysema score and pulmonary function test

    International Nuclear Information System (INIS)

    Lee, Chang Ho; Park, Kyung Joo; Park, Dong Won; Jung, Kyung Il; Suh, Jung Ho

    1997-01-01

    To compare the CT emphysema score with various factors of pulmonary function test by simple spirometry and to use the result as a predictor of pneumothorax in percutaneous transthoracic fine needle aspiration biopsy. The CT scans of 106 patients who had undergone percutaneous transthoracic fine needle aspiration biopsy of lung lesions within the previous 18 months were retrospectively reviewed. In 75 of these 106 cases, the results of the pulmonary function test were also reviewed. On plain chest radiography, pneumothorax was noted in 20 cases (19%). Emphysema was blindly evaluated. We divided each lung into four segments and determined the severity and involved volume of emphysema, as seen on CT. Severity was classified as one of four grades, as follow : absence of emphysema=0 ; low attenuation area of less than 5mm=1 ; low attenuation area of more than 5mm, and vascular pruning with normal lung intervening=2 ; and diffuse low attenuation without intervening normal lung, and larger confluent low attenuation with vascular pruning and distortion of branching pattern occupying all or almost all the involved parenchyma=3. The involved area was also classified as one of four grades : less than 25%=1 ; 25 - 49%=2 ; 51 - 74%=3 ; and more than 75%=4. The CT emphysema score was defined as the average of the grade of severity multiplied by the grade of involved area. Pulmonary function tests, consisting of simple spirometry and a pulmonologist's interpretation, were evaluated. We also evaluated depth and size of lesion as known predisposing factors in postbioptic pneumothorax. Statistical analysis was performed using the chi-square test, Wilcoxon ranks sum W test and the student t test. A comparison between the two groups of occurrence(with or without pneumothorax) showed the emphysema scores to be 1.69±2.0 and 1.11±2.9, respectively ; there was thus no significant difference between the two groups (z= - 0.048, p>0.10). Nor were differences revealed by the pulmonary

  12. Antimicrobial photodynamic therapy combined with periodontal treatment for metabolic control in patients with type 2 diabetes mellitus: study protocol for a randomized controlled trial.

    Science.gov (United States)

    Evangelista, Erika Elisabeth; França, Cristiane Miranda; Veni, Priscila; de Oliveira Silva, Tamires; Gonçalves, Rafael Moredo; de Carvalho, Verônica Franco; Deana, Alessandro Melo; Fernandes, Kristianne P S; Mesquita-Ferrari, Raquel A; Camacho, Cleber P; Bussadori, Sandra Kalil; Alvarenga, Letícia Heineck; Prates, Renato Araujo

    2015-05-27

    The relationship between diabetes mellitus (DM) and periodontal disease is bidirectional. DM is a predisposing and modifying factor of periodontitis, which, in turn, worsens glycemic control and increases proteins found in the acute phase of inflammation, such as C-reactive protein. The gold standard for the treatment of periodontal disease is oral hygiene orientation, scaling and planing. Moreover, systemic antibiotic therapy may be employed in some cases. In an effort to minimize the prescription of antibiotics, photodynamic therapy (PDT) has been studied as an antimicrobial technique and has demonstrated promising results. The aim of the proposed study is to determine whether PDT as a complement to periodontal therapy (PT) is helpful in the metabolic control of individuals with type 2 diabetes and the reduction of acute-phase inflammatory markers. The patients will be randomized using a proper software program into two groups: 1) PT + placebo PDT or 2) PT + active PDT. All patients will first be examined by a specialist, followed by PT performed by two other healthcare professionals. At the end of each session, PDT (active or placebo) will be administered by a fourth healthcare professional. The following will be the PDT parameters: diode laser (660 nm); power output = 110 mW; exposure time = 90 s per point (9 J/point); and energy density = 22 J/cm(2). The photosensitizer will be methylene blue (50 μg/mL). The patients will be re-evaluated 15, 30, 90 and 180 days after treatment. Serological examinations with complete blood count, fasting glucose, glycated hemoglobin and salivary examinations to screen for tumor necrosis factor alpha, interleukin 1, interleukin 6, ostelocalcin, and osteoprotegerin/RANKL will be performed at each evaluation. The data will be statistically evaluated using the most appropriate tests. The results of this study will determine the efficacy of photodynamic therapy as an adjuvant to periodontal treatment in diabetic patients. The

  13. Changes in performance status of elderly patients after radiotherapy

    International Nuclear Information System (INIS)

    Yamazaki, Hideya; Inoue, Takehiro; Yoshida, Ken

    2001-01-01

    The purpose of this study was to examine the feasibility of external radiation therapy for patients 80 years old and older. We analyzed changes in the performance status (PS) of 1353 patients by external radiotherapy at Osaka Teishin Hospital. In addition, factors influencing PS change and interruption of treatment were assessed in patients undergoing radical and palliative radiotherapy. Among elderly patients aged 80 years or more (n=67), two patients showed deterioration in PS (3%), whereas 128 (10%) did so among those 79 years old or younger. The rate of treatment completion was 90% (60/67) for patients aged 80 years and over compared with 89% (1146/1286) for younger patients. Changes in PS were more frequent for palliative treatment (improvement 83/683, 12%; deterioration 77/683, 11%) than for radical treatment (improvement 12/305, 4%:, deterioration 21/305, 7%) because patients with better performance status and early disease stages underwent radical treatment. For radical radiotherapy, patients with advanced disease (stages III and IV) showed more changes (improvement 4/108, 4%; deterioration 17/108, 16%) than those with early ones (stages I and II) (improvement 7/132, 5%; deterioration 3/132, 2%) (p<0.01). Better treatment results showed a higher treatment completion rate (CR 99%, PR 86%) than poor treatment results (NC 75%, PD 50%) (p<0.01). For palliative therapy, better performance status (PS 0-2) showed a better correlation with completion of treatment (403/451 or 89%) than did poor performance status (PS 3-4) (174/232, 75%) (p<0.01). Age is not a limiting factor for external radiation therapy. Poor performance status is a significant predisposing factor for interruption of palliative radiotherapy. (author)

  14. Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.

    Science.gov (United States)

    Fewings, Eleanor; Larionov, Alexey; Redman, James; Goldgraben, Mae A; Scarth, James; Richardson, Susan; Brewer, Carole; Davidson, Rosemarie; Ellis, Ian; Evans, D Gareth; Halliday, Dorothy; Izatt, Louise; Marks, Peter; McConnell, Vivienne; Verbist, Louis; Mayes, Rebecca; Clark, Graeme R; Hadfield, James; Chin, Suet-Feung; Teixeira, Manuel R; Giger, Olivier T; Hardwick, Richard; di Pietro, Massimiliano; O'Donovan, Maria; Pharoah, Paul; Caldas, Carlos; Fitzgerald, Rebecca C; Tischkowitz, Marc

    2018-04-26

    Germline pathogenic variants in the E-cadherin gene (CDH1) are strongly associated with the development of hereditary diffuse gastric cancer. There is a paucity of data to guide risk assessment and management of families with hereditary diffuse gastric cancer that do not carry a CDH1 pathogenic variant, making it difficult to make informed decisions about surveillance and risk-reducing surgery. We aimed to identify new candidate genes associated with predisposition to hereditary diffuse gastric cancer in affected families without pathogenic CDH1 variants. We did whole-exome sequencing on DNA extracted from the blood of 39 individuals (28 individuals diagnosed with hereditary diffuse gastric cancer and 11 unaffected first-degree relatives) in 22 families without pathogenic CDH1 variants. Genes with loss-of-function variants were prioritised using gene-interaction analysis to identify clusters of genes that could be involved in predisposition to hereditary diffuse gastric cancer. Protein-affecting germline variants were identified in probands from six families with hereditary diffuse gastric cancer; variants were found in genes known to predispose to cancer and in lesser-studied DNA repair genes. A frameshift deletion in PALB2 was found in one member of a family with a history of gastric and breast cancer. Two different MSH2 variants were identified in two unrelated affected individuals, including one frameshift insertion and one previously described start-codon loss. One family had a unique combination of variants in the DNA repair genes ATR and NBN. Two variants in the DNA repair gene RECQL5 were identified in two unrelated families: one missense variant and a splice-acceptor variant. The results of this study suggest a role for the known cancer predisposition gene PALB2 in families with hereditary diffuse gastric cancer and no detected pathogenic CDH1 variants. We also identified new candidate genes associated with disease risk in these families. UK Medical

  15. Incidence and risk factors predisposing anastomotic leak after transhiatal esophagectomy

    International Nuclear Information System (INIS)

    Tabatabai, Abbas; Hashemi, Mozaffar; Mohajeri, Gholamreza; Ahmadinejad, Mojtaba; Khan, Ishfaq Abass; Haghdani, Saeid

    2009-01-01

    The objective of our study was to identify the incidence and risk factors of anastomotic leaks following transhiatal esophagectomy (THE). A prospective study was conducted on 61 patients treated for carcinoma of the esophagus between 2006 and 2007. We examined the following variables: age, gender, preoperative cardiovascular function, intraoperative complications such as hypotension, arrhythmia, mediastinal manipulation period, blood loss volume, blood transfusion, duration of surgery, postoperative complications such as anastomotic leak, anastomotic stricture, requiring reoperation, respiratory complications, and total morbidity and mortality. Variables were compared between the patients with and without anastomotic leak. T-test for quantitative variables and Chi-square test for qualitative variables were used to find out any relationship. P value less than 0.05 was considered significant. Out of 61 patients, anastomotic leaks occurred in 13 (21.3%). Weight loss, forced expiratory volume (FEV1) < 2 lit, preoperative albumin, intaoperative blood loss volume, and respiratory complication were associated with the anastomotic leak in patients undergoing THE. Anastomotic leaks were the leading cause of postoperative morbidity, anastomotic stricture, and reoperation. Anastomotic leakage is a life-threatening postoperative complication. Careful attention to the factors contributing to the development of a leak can reduce the incidence of anastomotic complications postoperatively. (author)

  16. G{sub 2} radiosensitivity of cells derived from cancer-prone individuals

    Energy Technology Data Exchange (ETDEWEB)

    Darroudi, F.; Vyas, R.C.; Vermeulen, S.; Natarajan, A.T. [J.A. Cohen Institute of Radiopathology and Radiation Protection, Interuniversity Institute, Leiden (Netherlands)

    1995-04-01

    The potential of enhanced chromatid damage, observed after X-irradiation of G{sub 2} phase, has been used to detect individuals genetically predisposed to cancer, utilising fibroblasts/lymphocytes from these patients as well as fibroblasts derived from human tumours. Fibroblasts and/or lymphocyte samples of two autosomal recessive syndromes (xeroderma pigmentosum (XP), Fanconi`s anaemia (FA)) and one congenital or acquired disorder, aplastic anaemia (AA), were employed for the G{sub 2} radiosensitivity assay. In addition, we have estimated the frequencies of spontaneously occurring chromosomal aberrations as well as G{sub 2} radiosensitivity of eight samples of fibroblasts/fibroblast-like cells (two normal, two colorectal carcinoma, two Wilms` tumour, one retinoblastoma and one polyposis coli), and three samples of lymphocytes (two normal and one from a lymphoma patient). The results obtained indicate that there were no differences between fibroblast cells derived from patients or tumours, except FA patients, in the frequency of spontaneously occurring chromosomal aberrations when compared to normal cells. Following X-irradiation we did not observe any significantly increased G{sub 2} radiosensitivity in FA and XP cells. Lymphocytes from AA and lymphoma patients, and all tumour cell lines except retinoblastoma, responded with increased frequencies of aberrations following G{sub 2} X-irradiation in comparison to cells derived from normal individuals. In our hands, the G{sub 2} sensitivity assay could not always discriminate cells from cancer-prone individuals from those of controls.

  17. Cyclosporine A and palmitic acid treatment synergistically induce cytotoxicity in HepG2 cells

    Energy Technology Data Exchange (ETDEWEB)

    Luo, Yi, E-mail: yi.luo@pfizer.com; Rana, Payal; Will, Yvonne

    2012-06-01

    Immunosuppressant cyclosporine A (CsA) treatment can cause severe side effects. Patients taking immunosuppressant after organ transplantation often display hyperlipidemia and obesity. Elevated levels of free fatty acids have been linked to the etiology of metabolic syndromes, nonalcoholic fatty liver and steatohepatitis. The contribution of free fatty acids to CsA-induced toxicity is not known. In this study we explored the effect of palmitic acid on CsA-induced toxicity in HepG2 cells. CsA by itself at therapeutic exposure levels did not induce detectible cytotoxicity in HepG2 cells. Co-treatment of palmitic acid and CsA resulted in a dose dependent increase in cytotoxicity, suggesting that fatty acid could sensitize cells to CsA-induced cytotoxicity at the therapeutic doses of CsA. A synergized induction of caspase-3/7 activity was also observed, indicating that apoptosis may contribute to the cytotoxicity. We demonstrated that CsA reduced cellular oxygen consumption which was further exacerbated by palmitic acid, implicating that impaired mitochondrial respiration might be an underlying mechanism for the enhanced toxicity. Inhibition of c-Jun N-terminal kinase (JNK) attenuated palmitic acid and CsA induced toxicity, suggesting that JNK activation plays an important role in mediating the enhanced palmitic acid/CsA-induced toxicity. Our data suggest that elevated FFA levels, especially saturated FFA such as palmitic acid, may be predisposing factors for CsA toxicity, and patients with underlying diseases that would elevate free fatty acids may be susceptible to CsA-induced toxicity. Furthermore, hyperlipidemia/obesity resulting from immunosuppressive therapy may aggravate CsA-induced toxicity and worsen the outcome in transplant patients. -- Highlights: ► Palmitic acid and cyclosporine (CsA) synergistically increased cytotoxicity. ► The impairment of mitochondrial functions may contribute to the enhanced toxicity. ► Inhibition of JNK activity attenuated

  18. Vascular associated gene variants in patients with preeclampsia

    DEFF Research Database (Denmark)

    Lykke, Jacob A; Bare, Lance A; Olsen, Jørn

    2012-01-01

    Preeclampsia has been linked to subsequent vascular disease with many shared predisposing factors. We investigated the association between severe preeclampsia, and its subtypes, and specific vascular-related polymorphisms.......Preeclampsia has been linked to subsequent vascular disease with many shared predisposing factors. We investigated the association between severe preeclampsia, and its subtypes, and specific vascular-related polymorphisms....

  19. Investigation of GRIN2A in common epilepsy phenotypes

    NARCIS (Netherlands)

    Lal, Dennis; Steinbrücker, Sandra; Schubert, Julian; Sander, Thomas; Becker, Felicitas; Weber, Yvonne; Lerche, Holger; Thiele, Holger; Krause, Roland; Lehesjoki, Anna Elina; Nürnberg, Peter; Palotie, Aarno; Neubauer, Bernd A.; Muhle, Hiltrud; Stephani, Ulrich; Helbig, Ingo; Becker, Albert J.; Schoch, Susanne; Hansen, Jörg; Dorn, Thomas; Hohl, Christin; Lüscher, Nicole; von Spiczak, Sarah; Lemke, Johannes R.; Zimprich, Fritz; Feucht, Martha; Suls, Arvid; Weckhuysen, Sarah; Claes, Lieve; Deprez, Liesbet; Smets, Katrien; Dyck, Tine Van; Deconinck, Tine; De Jonghe, Peter; Møller, Rikke S.; Klitten, Laura L.; Hjalgrim, Helle; Campus, Kiel; Ostertag, Philipp; Trucks, Hol ger; Elger, Christian E.; Kleefuß-Lie, Ailing A.; Kunz, Wolfram S.; Surges, Rainer; Gaus, Verena; Janz, Dieter; Schmitz, Bettina; Klein, Karl Martin; Reif, Philipp S.; Oertel, Wolfgang H.; Hamer, Hajo M.; Rosenow, Felix; Kapser, Claudia; Schankin, Christoph J.; Koeleman, Bobby P C; de Kovel, Carolien; Lindhout, Dick; Reinthaler, Eva M.; Steinboeck, Hannelore; Neo-phytou, Birgit; Geldner, Julia; Gruber-Sedlmayr, Ursula; Haberlandt, Edda; Ronen, Gabriel M.; Altmueller, Janine; Nuernberg, Peter; Neubauer, Bernd; Sirén, Auli

    2015-01-01

    Recently, mutations and deletions in the GRIN2A gene have been identified to predispose to benign and severe idiopathic focal epilepsies (IFE), revealing a higher incidence of GRIN2A alterations among the more severe phenotypes. This study aimed to explore the phenotypic boundaries of GRIN2A

  20. Pheochromocytoma and gastrointestinal stromal tumors in patients with neurofibromatosis type I.

    Science.gov (United States)

    Vlenterie, Myrella; Flucke, Uta; Hofbauer, Lorenz C; Timmers, Henri J L M; Gastmeier, Joerg; Aust, Daniela E; van der Graaf, Winette T A; Wesseling, Pieter; Eisenhofer, Graeme; Lenders, Jacques W M

    2013-02-01

    Neurofibromatosis I may rarely predispose to pheochromocytoma and gastrointestinal stromal tumors. A 59-year-old woman with neurofibromatosis I presented with pheochromocytoma of the left adrenal gland. During surgery, 3 gastrointestinal stromal tumors adjacent to the stomach and small intestine were removed. Despite appropriate thrombosis prophylaxis, the patient died of a pulmonary embolus 2 days postoperatively. The second patient, a 55-year-old man with neurofibromatosis I and bilateral pheochromocytomas, had several small gastrointestinal stromal tumors adjacent to the jejunum during surgery. A review of the literature was conducted to identify patients with neurofibromatosis I with concurrence of pheochromocytoma and gastrointestinal stromal tumors and to define the specific clinical features of these patients. In addition to our 2 patients, 12 other cases of neurofibromatosis I with concomitant occurrence of pheochromocytomas and gastrointestinal stromal tumors have been reported. Pheochromocytomas had adrenal locations in all patients. Two of the 14 patients had a mixed pheochromocytoma/ganglioneuroma. In 4 of the 14 patients, gastrointestinal stromal tumors were located along the stomach. The gastrointestinal stromal tumors in our 2 patients showed no somatic mutations in KIT and PDGFRA genes. A pulmonary embolism was diagnosed in 4 patients. The simultaneous occurrence of pheochromocytoma and gastrointestinal stromal tumor should be considered in all patients with neurofibromatosis I presenting with an abdominal mass with symptoms suggestive of pheochromocytoma. Therefore, a pheochromocytoma should be excluded before a patient with neurofibromatosis I undergoes surgery for a gastrointestinal stromal tumor because an undiagnosed pheochromocytoma carries a high risk of life-threatening cardiovascular complications during surgery. Finally, this combination may be associated with an increased risk for thromboembolic events, but more studies are necessary to

  1. Is gender still a predisposing factor in contrast-media associated adverse drug reactions? A systematic review and meta-analysis of randomized trials and observational studies

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Heeyoung, E-mail: sselmul@hanmail.net [Evidence-Based Research Laboratory, Division of Health, Social and Clinical Pharmacotherapy, College of Pharmacy, Chung-Ang University, Seoul (Korea, Republic of); Song, Seungyeon, E-mail: tmddus0121@hotmail.com [Evidence-Based Research Laboratory, Division of Health, Social and Clinical Pharmacotherapy, College of Pharmacy, Chung-Ang University, Seoul (Korea, Republic of); Oh, Yun-Kyoung, E-mail: rky221@hanmail.net [Evidence-Based Research Laboratory, Division of Health, Social and Clinical Pharmacotherapy, College of Pharmacy, Chung-Ang University, Seoul (Korea, Republic of); Department of Pharmacy, Konkuk University Medical Center, Seoul (Korea, Republic of); Kang, WonKu, E-mail: wkang@cau.ac.kr [College of Pharmacy, Chung-Ang University, Seoul (Korea, Republic of); Kim, Eunyoung, E-mail: eykimjcb777@cau.ac.kr [Evidence-Based Research Laboratory, Division of Health, Social and Clinical Pharmacotherapy, College of Pharmacy, Chung-Ang University, Seoul (Korea, Republic of); College of Pharmacy, Chung-Ang University, Seoul (Korea, Republic of)

    2017-04-15

    Highlights: • Analyzing RCTs and observational studies shows similar CM-ADR developments between genders. • Gender factor is not related to developing CIN and non-renal CM-ADR. • Gender is not a predisposing factor of CM-ADRs under current evidences. - Abstract: Objective: To evaluate the role of gender as a risk factor for developing contrast media-associated adverse drug reactions (CM-ADRs) by comparing the incidence of CM-ADR between male and female patients according to study design, ADR type, and computed tomography (CT) examination. Material and methods: We systematically searched three electronic databases for eligible studies. In the studies included (n = 18), we assessed effect estimates of the relative incidence of CM-ADR, analysed by experimental design, ADR type and CT examination. This was calculated by using a random effects model if clinical conditions showed heterogeneity; otherwise, a fixed effects model was used. Results: We identified 10,776 patients administered CM. According to the designs, studies were classified into randomised controlled trials (RCTs) and observational studies. Results were as follows: risk ratio (RR) = 1.07 (95% confidence interval (CI): 0.79–1.46, P = 0.66) for RCTs, and RR = 0.77 (95% CI: 0.58–1.04, P = 0.09) for observational studies. The results of analysis according to ADR type and for undergoing CT demonstrated that the incidence of CM-ADR did not differ between males and females. Conclusions: We found no significant difference in the incidence of CM-ADRs between male and female patients according to study design, ADR type, or CT examination. Future studies to determine why gender has shown different roles as a risk factor between CM-ADRs and non-CM ADRs are needed.

  2. Is gender still a predisposing factor in contrast-media associated adverse drug reactions? A systematic review and meta-analysis of randomized trials and observational studies

    International Nuclear Information System (INIS)

    Lee, Heeyoung; Song, Seungyeon; Oh, Yun-Kyoung; Kang, WonKu; Kim, Eunyoung

    2017-01-01

    Highlights: • Analyzing RCTs and observational studies shows similar CM-ADR developments between genders. • Gender factor is not related to developing CIN and non-renal CM-ADR. • Gender is not a predisposing factor of CM-ADRs under current evidences. - Abstract: Objective: To evaluate the role of gender as a risk factor for developing contrast media-associated adverse drug reactions (CM-ADRs) by comparing the incidence of CM-ADR between male and female patients according to study design, ADR type, and computed tomography (CT) examination. Material and methods: We systematically searched three electronic databases for eligible studies. In the studies included (n = 18), we assessed effect estimates of the relative incidence of CM-ADR, analysed by experimental design, ADR type and CT examination. This was calculated by using a random effects model if clinical conditions showed heterogeneity; otherwise, a fixed effects model was used. Results: We identified 10,776 patients administered CM. According to the designs, studies were classified into randomised controlled trials (RCTs) and observational studies. Results were as follows: risk ratio (RR) = 1.07 (95% confidence interval (CI): 0.79–1.46, P = 0.66) for RCTs, and RR = 0.77 (95% CI: 0.58–1.04, P = 0.09) for observational studies. The results of analysis according to ADR type and for undergoing CT demonstrated that the incidence of CM-ADR did not differ between males and females. Conclusions: We found no significant difference in the incidence of CM-ADRs between male and female patients according to study design, ADR type, or CT examination. Future studies to determine why gender has shown different roles as a risk factor between CM-ADRs and non-CM ADRs are needed.

  3. Visual Hallucinations as Incidental Negative Effects of Virtual Reality on Parkinson’s Disease Patients: A Link with Neurodegeneration?

    Directory of Open Access Journals (Sweden)

    Giovanni Albani

    2015-01-01

    Full Text Available We followed up a series of 23 Parkinson’s disease (PD patients who had performed an immersive virtual reality (VR protocol eight years before. On that occasion, six patients incidentally described visual hallucinations (VH with occurrences of images not included in the virtual environment. Curiously, in the following years, only these patients reported the appearance of VH later in their clinical history, while the rest of the group did not. Even considering the limited sample size, we may argue that VR immersive systems can induce unpleasant effects in PD patients who are predisposed to a cognitive impairment.

  4. Predisposing factors to development of mitral regurgitation and valve area

    Directory of Open Access Journals (Sweden)

    Kazemi Khaledi A

    1999-07-01

    Full Text Available Background: Percutaneous Transeptal Mitral Commisurotomy (PTMC has been used in treating mitral stenosis with variable success, its main complication being mitral incompetence. There is a need to define the subgroup of the patients who benefit mostly from the procedure. Methods: We studied 110 patients (age 17 to 60 years; mean 33.2 with mitral stenosis. PTMC was performed though femoral vein. All patients underwent echocardiographic evaluation, both before and after the procedure. Clinical, hemodynamic and echocardiographic data were gathered and used to predict the outcome. Results: PTMC was successful in all 110 patients in alleviating the stenosis (mean transmitral gradient before procedure was 17.1 mmHg; after procedure 4.4 mmHg. There was no mortality or major complication other than occurrence of mitral regurgitation in 9 cases. In this group only one patient subsequently needed a mitral valve replacement operation. The following parameters were found to have a significant correlation with the success rate of PTMC: lower age, shorter duration of illness, functional class III and IV, larger EF slope, smaller EPSS, smaller amplitude of valve motion, limitation of the posterior leaflet motion and negative history for open commisurotomy. The incidence of mitral regurgitation after procedure was found to be correlated with: atrial fibrillation rhythm before PTMC, lower age, longer duration of illness, more frequent relapse of rheumatic fever, functional class III and IV, less EF slope, limitation of the valve motion, larger left atrium, calcification of posterior leaflet and subvalvular extension. Conclusions: Balloon Mitral Valvuloplasty is an effective and relatively safe procedure in the management of the mitral stenosis. With the proper selection of the patients with the favorable outcome parameters, the rate of complication can be reduced.

  5. Predictors of ischemic versus hemorrhagic strokes in hypertensive patients

    International Nuclear Information System (INIS)

    Khealani, B.A.; Syed, N.A.; Maken, S.; Mapari, U.U.; Hameed, B.; Ali, S.; Qureshi, R.; Akhter, N.; Hassan, A.; Sonawalla, A.B.; Baig, S.M.; Wasay, M.

    2005-01-01

    Objective: To identify the factors that predispose to ischemic versus hemorrhagic stroke in hypertensive patients. Materials and Methods: All the hypertensive patients, who were registered in AKUH acute stroke outcome data base, over a period of 22 months, were identified and from this cohort the patients with first ever stroke were selected. The data regarding demographics, stroke type (ischemic vs. hemorrhagic), pre-existing medical problems, laboratory and radiological investigations was recorded and analyzed. Results: Five hundred and nineteen patients with either ischemic stroke or parenchymal hemorrhage were registered over a period of 22 months. Three hundred and forty-eight patients (67%) had hypertension and of these, 250 had first ever stroke at the time of admission. Presence of diabetes mellitus (OR: 3.76; Cl:1.67-8.46) and ischemic heart disease (OR: 6.97; Cl:1.57-30.98) were found to be independent predictors of ischemic strokes. Conclusion: Presence of diabetes mellitus and ischemic heart disease predict ischemic stroke in a patient with hypertension. (author)

  6. Utility of the SeHCAT test in the investigation of different types of bile acid malabsorption; SeHCAT-scanning ved galdesyremalabsorption

    Energy Technology Data Exchange (ETDEWEB)

    Hornshoej Thomsen, Lars; Arveschough, Anne Kirstine; Gustenhoff, Peter; Qvist, Peter

    1998-09-01

    Chronic diarrhoea caused by bile acid malabsorption (BAM) is usually divided into three groups. Type 1 is associated with ileal disease or ileal resection; type 2 is idiopathic, and type 3 is BAM associated with certain predisposing conditions. We evaluated the applicability of the SeHCAT test as a routine investigation of different types of suspected BAM. Detailed information about 298 patients were obtained from retrospective review of patient records. All 68 patients with ileal resections had abnormal SeHCAT retention (median 0.6%; range 0-13%). Of 42 patients with non-resected Crohn`s disease or radiation injury, BAM was found in 28 cases. A diagnosis of BAM type 2 was established in 33 of 150 patients with unexplained chronic diarrhoea. For patients tested for possible BAM type 3, the SeHCAT values were significantly lower compared to type 2 patients. For BAM type 1, the SeHCAT test is only recommended in non-resected patients. Idiopathic BAM seems to be more common than recognized. The presence of certain predisposing conditions might strenghten the indication for SeHCAT testing. (au) 20 refs.

  7. Modern radiological imaging of osteoarthritis of the hip joint with consideration of predisposing conditions

    International Nuclear Information System (INIS)

    Weber, Marc-Andre; Rehnitz, C.; Merle, C.; Gotterbarm, T.

    2016-01-01

    Osteoarthritis is the most common disease of the hip joint in adults and has a high socioeconomic impact. This review article discusses the value of three imaging modalities in the diagnosis of osteoarthritis of the hip joint: projection radiography, computed tomography, and magnetic resonance imaging (MRI). Besides established imaging diagnostics of osteoarthritis, this review also outlines new MRI techniques that enable the biochemical analysis of hip joint cartilage and discusses predisposing deformities of the hip joint including femoroacetabular impingement (FAI) with labral pathologies, hip joint dysplasia, malrotation, and, finally, femoral head necrosis, for which early detection and an exact description of the extent and localization of the necrotic area are extremely important. Conventional X-rays remain indispensable for the diagnosis of osteoarthritis, while MRI is able to depict additional early symptoms and signs of activity of the disease. With the increasing number of joint-preserving interventions such as surgical hip luxation and hip joint arthroscopy for treating FAI, high-resolution imaging is gaining further importance for both pre- and postoperative diagnostics because it can accurately recognize early stages of joint damage. With high-resolution MR sequences and MR arthrography, the detailed depiction of the thin cartilaginous coating of the hip joint has become quite possible.

  8. Matrix metalloproteinase 2 (MMP-2) levels are increased in active acromegaly patients.

    Science.gov (United States)

    Karci, Alper Cagri; Canturk, Zeynep; Tarkun, Ilhan; Cetinarslan, Berrin

    2017-07-01

    During follow-up of acromegaly patients, there is a discordance rate of 30% between the measurements of growth hormone and insulin-like growth factor-1 levels. Further tests are required to determine disease activity in patients with discordant results. This study was planned to investigate an association of serum levels of matrix metalloproteinase-2, matrix metalloproteinase-9, and cathepsin B with disease activity in acromegaly patients. In this study, 64 acromegaly patients followed in our clinic were divided into two groups according to the 2010 consensus criteria for cure of acromegaly as patients with active disease (n = 24) and patients with controlled disease (n = 40). Serum matrix metalloproteinase-2, matrix metalloproteinase-9, and cathepsin B levels were measured by the enzyme-linked immunosorbent assay method. The mean serum matrix metalloproteinase-2 level was significantly higher in the active acromegaly patients than in the controlled acromegaly patients (150.1 ± 54.5 ng/mL vs. 100.2 ± 44.6 ng/mL; p matrix metalloproteinase-9 and cathepsin B levels (p = 0.205 and p = 0.598, respectively). Serum matrix metalloproteinase-2 levels of 118.3 ng/mL and higher had a sensitivity of 75% and a specificity of 77.5% in determining active disease. The risk of active acromegaly was 3.3 fold higher in the patients with a matrix metalloproteinase-2 level of >118.3 ng/mL than in the patients with a matrix metalloproteinase-2 level of matrix metalloproteinase-2 level is increased in the active acromegaly patients and a threshold value in determining active disease was defined for serum matrix metalloproteinase-2 level. This study is the first to compare acromegaly patients having active or controlled disease in terms of matrix metalloproteinase-2 and matrix metalloproteinase-9 levels. The results need to be confirmed by a study that will be conducted in a larger patient group also including a healthy control group to demonstrate the

  9. Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model [version 2; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Mark Brenneman

    2018-01-01

    Full Text Available Pleuropulmonary blastoma (PPB is the most frequent pediatric lung tumor and often the first indication of a pleiotropic cancer predisposition, DICER1 syndrome, comprising a range of other individually rare, benign and malignant tumors of childhood and early adulthood. The genetics of DICER1-associated tumorigenesis are unusual in that tumors typically bear neomorphic missense mutations at one of five specific “hotspot” codons within the RNase IIIb domain of DICER 1, combined with complete loss of function (LOF in the other allele. We analyzed a cohort of 124 PPB children for predisposing DICER1 mutations and sought correlations with clinical phenotypes. Over 70% have inherited or de novo germline LOF mutations, most of which truncate the DICER1 open reading frame. We identified a minority of patients who have no germline mutation, but are instead mosaic for predisposing DICER1 mutations. Mosaicism for RNase IIIb domain hotspot mutations defines a special category of DICER1 syndrome patients, clinically distinguished from those with germline or mosaic LOF mutations by earlier onsets and numerous discrete foci of neoplastic disease involving multiple syndromic organ sites. A final category of PBB patients lack predisposing germline or mosaic mutations and have sporadic (rather than syndromic disease limited to a single PPB tumor bearing tumor-specific RNase IIIb and LOF mutations. We propose that acquisition of a neomorphic RNase IIIb domain mutation is the rate limiting event in DICER1-associated tumorigenesis, and that distinct clinical phenotypes associated with mutational categories reflect the temporal order in which LOF and RNase IIIb domain mutations are acquired during development.

  10. Impact of Predisposing Factors on Academic Stress among Pre-Service Teachers

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    Pershaanbala Balakrishnan

    2017-10-01

    Full Text Available Background: Many studies have been done on stress among educators. Teachers, lecturers, and tutors all over the world has been brought into attention when it comes to stress related issues. Our purpose was to investigate the level of academic stress among pre-service teachers in a teaching education institution in Perak, Malaysia. Methods: In this study a cross-sectional comparative survey study was conducted on pre-service teachers from a teacher education institution. The variables that was tested and correlated throughout the study are age, gender, and marital status, and medical history, influence of medications, exercise and social lifestyle. Data was collected through questionnaires to find out the outcome. Descriptive data analysis was used to describe the socio-demographic data. Correlation analysis was used to determine the significant relation between the variables. P<0.05 was considered as significant of the study. Results: Majority of the students, 78.4% represent the severe category of distress according to the Kessler scale. The remaining 13.6% were recorded as being under mild and 7.6% (n=19 under moderate category of distress. Regrettably, less than 1% (n=1 of the pre-service teachers were from the well category. Exercise was found to be significantly associated with the prevalence of severe psychological distress. Simple logistic regressions showed that pre-service teachers who exercised had a significant 91% reduced risk for psychological distress (OR=0.09; 95% CI=0.02, 0.35 compared to those who doesn’t exercise. Conclusion: At the end of this study, a better understanding on the predisposing factors of academic stress among pre-service teachers was determined and therefore interventions on coping with stress can be made simple. Various physiotherapy interventions on preventive and corrective measures were suggested with reference to the results.

  11. Review of hypoxaemia in anaesthetized horses: predisposing factors, consequences and management.

    Science.gov (United States)

    Auckburally, Adam; Nyman, Görel

    2017-05-01

    To discuss how hypoxaemia might be harmful and why horses are particularly predisposed to developing it, to review the strategies that are used to manage hypoxaemia in anaesthetized horses, and to describe how successful these strategies are and the adverse effects associated with them. Google Scholar and PubMed, using the search terms horse, pony, exercise, anaesthesia, hypoxaemia, oxygen, mortality, morbidity and ventilation perfusion mismatch. Although there is no evidence that hypoxaemia is associated with increased morbidity and mortality in anaesthetized horses, most anaesthetists would agree that it is important to recognise and prevent or treat it. Favourable anatomical and physiological adaptations of a horse for exercise adversely affect gas exchange once the animal is recumbent. Hypoxaemia is recognised more frequently in horses than in other domestic species during general anaesthesia, although its incidence in healthy horses remains unreported. Management of hypoxaemia in anaesthetized horses is challenging and often unsuccessful. Positive pressure ventilation strategies to address alveolar atelectasis in humans have been modified for implementation in recumbent anaesthetized horses, but are often accompanied by unpredictable and unacceptable cardiopulmonary adverse effects, and some strategies are difficult or impossible to achieve in adult horses. Furthermore, anticipated beneficial effects of these techniques are inconsistent. Increasing the inspired fraction of oxygen during anaesthesia is often unsuccessful since much of the impairment in gas exchange is a direct result of shunt. Alternative approaches to the problem involve manipulation of pulmonary blood away from atelectatic regions of the lung to better ventilated areas. However, further work is essential, with particular focus on survival associated with general anaesthesia in horses, before any technique can be accepted into widespread clinical use. Copyright © 2017 Association of

  12. Investigation of GRIN2A> in common epilepsy phenotypes

    DEFF Research Database (Denmark)

    Lal, Dennis; Steinbrücker, Sandra; Schubert, Julian

    2015-01-01

    Recently, mutations and deletions in the GRIN2A gene have been identified to predispose to benign and severe idiopathic focal epilepsies (IFE), revealing a higher incidence of GRIN2A alterations among the more severe phenotypes. This study aimed to explore the phenotypic boundaries of GRIN2A muta...

  13. Cervical spine signs and symptoms: perpetuating rather than predisposing factors for temporomandibular disorders in women

    Directory of Open Access Journals (Sweden)

    Débora Bevilaqua-Grossi

    2007-08-01

    Full Text Available AIM: The purpose of this study was to assess in a sample of female community cases the relationship between the increase of percentage of cervical signs and symptoms and the severity of temporomandibular disorders (TMD and vice-versa. MATERIAL AND METHODS: One hundred women (aged 18-26 years clinically diagnosed with TMD signs and symptoms and cervical spine disorders were randomly selected from a sample of college students. RESULTS: 43% of the volunteers demonstrated the same severity for TMD and cervical spine disorders (CSD. The increase in TMD signs and symptoms was accompanied by increase in CSD severity, except for pain during palpation of posterior temporal muscle, more frequently observed in the severe CSD group. However, increase in pain during cervical extension, sounds during cervical lateral flexion, and tenderness to palpation of upper fibers of trapezius and suboccipital muscles were observed in association with the progression of TMD severity. CONCLUSION: The increase in cervical symptomatology seems to accompany TMD severity; nonetheless, the inverse was not verified. Such results suggest that cervical spine signs and symptoms could be better recognized as perpetuating rather than predisposing factors for TMD.

  14. Tendinopathy in diabetes mellitus patients-Epidemiology, pathogenesis, and management.

    Science.gov (United States)

    Lui, P P Y

    2017-08-01

    Chronic tendinopathy is a frequent and disabling musculo-skeletal problem affecting the athletic and general populations. The affected tendon is presented with local tenderness, swelling, and pain which restrict the activity of the individual. Tendon degeneration reduces the mechanical strength and predisposes it to rupture. The pathogenic mechanisms of chronic tendinopathy are not fully understood and several major non-mutually exclusive hypotheses including activation of the hypoxia-apoptosis-pro-inflammatory cytokines cascade, neurovascular ingrowth, increased production of neuromediators, and erroneous stem cell differentiation have been proposed. Many intrinsic and extrinsic risk/causative factors can predispose to the development of tendinopathy. Among them, diabetes mellitus is an important risk/causative factor. This review aims to appraise the current literature on the epidemiology and pathology of tendinopathy in diabetic patients. Systematic reviews were done to summarize the literature on (a) the association between diabetes mellitus and tendinopathy/tendon tears, (b) the pathological changes in tendon under diabetic or hyperglycemic conditions, and (c) the effects of diabetes mellitus or hyperglycemia on the outcomes of tendon healing. The potential mechanisms of diabetes mellitus in causing and exacerbating tendinopathy with reference to the major non-mutually exclusive hypotheses of the pathogenic mechanisms of chronic tendinopathy as reported in the literature are also discussed. Potential strategies for the management of tendinopathy in diabetic patients are presented. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Beta-2 Microglobulin Levels in Hemodialysis Patients

    Directory of Open Access Journals (Sweden)

    Mumtaz Asim

    2010-01-01

    Full Text Available The objective of the study was to determine the level of β2-microglobulin (β2-m in hemodialysis (HD patients and the factors affecting it. This cross sectional, hospital based study was conducted between September and December 2008 at the Hemodialysis unit of Shalamar Hospital, Lahore. All patients with end-stage renal disease (ESRD who were on main-tenance HD for more than three months were included in the study. Patients with acute renal failure and on dialysis for less than three months were excluded. Demographic data were collec-ted and details of dialysis (type of dialyzers, dialysate bath, membrane used were recorded. Blood samples of the patients were drawn for hematological (hemoglobin, hematocrit, bioche-mical (urea, creatinine, uric acid, albumin and β2-m level measurement. The total number of patients studied was 50. The major causes of ESRD included diabetes mellitus and hypertension seen in 37 (74% and 10 patients (20%, respectively. The β2-m levels were significantly elevated in the study patients; 92.6 ± 17.1 mg/L with a range of 54 to 130 mg/L as compared to 2.0 ± 1.29 mg/L in the control group. The patients′ age had a statistically significant relationship with the β2-m level. The major reason for increased β2-m level was use of low-flux dialyzers. Synthetic polysulphone membrane, bicarbonate, ultra pure dialysate and duration on HD were not asso-ciated with high β2-m levels. Also, we found an inverse relationship between β2-m levels and serum albumin of the study patients. Our study suggests that the β2-m levels are significantly high in dialysis patients. Use of low-flux dialyzer seems to be the major reason for the high β2-m levels. Age and albumin have statistically significant relationship with β2-m levels.

  16. High plasma cyst(e)ine level may indicate poor clinical outcome in patients with acute stroke: possible involvement of hydrogen sulfide.

    Science.gov (United States)

    Wong, Peter T H; Qu, Kun; Chimon, Ghislain N; Seah, Alvin B H; Chang, Hui Meng; Wong, Meng Cheong; Ng, Yee Kong; Rumpel, Helmut; Halliwell, Barry; Chen, Christopher P L H

    2006-02-01

    Cysteine is known to cause neuronal cell death and has been reported to be elevated in brain ischemia, but it has not been studied in clinical stroke. In this study, we correlated plasma levels of cyst(e)ine with long-term clinical outcome at 3 months in acute stroke. Patients were classified into 3 groups at 3 months as follows: good outcome (Rankin 0-1, n = 11), poor outcome (Rankin 2-5, n = 20), and dead (n = 5). Their plasma cyst(e)ine levels within 24 hours of stroke onset were 61 +/- 12, 67 +/- 9, and 82 +/- 14 micromol/L (standard deviation), respectively. The correlation between early plasma cyst(e)ine levels and long-term clinical outcome assessed at 3 months is significant with p ine was also significantly elevated in patients who had early stroke deterioration (p ine in patients with stroke may reflect increased production of H2S in the brain and thus predispose to poor outcome in clinical stroke. Inhibition of H2S formation may therefore be a novel approach in acute stroke therapy.

  17. Secondary bacteraemia in adult patients with prolonged dengue fever.

    Science.gov (United States)

    Premaratna, R; Dissanayake, D; Silva, F H D S; Dassanayake, M; de Silva, H J

    2015-03-01

    Although dengue management guidelines do not advice on use of antibiotics in dengue shock syndrome, unrecognised bactraemia is likely to contribute to morbidity and mortality. To assess the occurance of secondary bacteraemia in adult patients with prolonged dengue fever. A prospective study was conducted recruiting patients with confirmed acute dengue infection who had prolonged fever (>5 days). Two sets of blood cultures were taken in such patients prior to institution of antibiotic therapy. Demographic, clinical, haematological and biochemical parameters were recorded. Development of ascites and pleural effusions were detected using ultrasonography. Fourty patients (52.5% males) with a mean age of 29.8 years (SD 13.6) were studied. The average duration of fever was 7.9 days (SD 1.8). Ten patients (25%) had bacterial isolates in their blood cultures; Staphylococcus aureus (n=2), coliforms (n=3), pseudomonas (n=1) and 4 had mixed growths. The culture positive group had severe body aches at admission and higher fever, third space fluid accumulation, a significant drop in platelets and a higher CRP. A quarter of dengue patients with prolonged fever had a bacterial isolate. Culture positive patients appeared more ill with body aches and had higher degrees of fever during the latter part of the illness. Increased vascular permeability may predispose to bacterial seepage into blood. Although white cell count is not helpful in detecting bacteraemia, low platelet count and elevation of CRP seem to be helpful.

  18. Neglected rupture of the quadriceps tendon in a patient with chronic renal failure (case report and review of the literature).

    Science.gov (United States)

    Hassani, Zouhir Ameziane; Boufettal, Moncef; Mahfoud, Moustapha; Elyaacoubi, Moradh

    2014-01-01

    Spontaneous ruptures of the quadriceps tendon are infrequent injuries, it is seen primarily in patients with predisposing diseases such as gout, rheumatoid arthritis and chronic renal failure. A 32-year-old man had a history of end stage renal disease and received regular hemodialysis treatment for more than 5 years. He was admitted in our service for total functional impotence of the right lower limb with knee pain after a common fall two months ago. The radiogram showed a ''patella baja" with suprapatellar calcifications. The ultrasound and MRI showed an aspect of rupture of the quadriceps tendon in its proximal end with retraction of 3 cm. Quadriceps tendon repair was performed with a lengthening plasty, and the result was satisfactory after a serial rehabilitation program. The diagnosis of quadriceps tendon ruptures needs more attention in patients with predisposing diseases. They should not be unknown because the treatment of neglected lesions is more difficult. We insist on the early surgical repair associated with early rehabilitation that can guarantee recovery of good active extension.

  19. Hypogammaglobulinemia and Poor Performance Status are Predisposing Factors for Vancomycin-Resistant Enterococcus Colonization in Patients with Hematological Malignancies

    Directory of Open Access Journals (Sweden)

    Elif Gülsüm Ümit

    2017-03-01

    Full Text Available Objective: Vancomycin-resistant enterococci (VRE are common pathogens of hospital-acquired infection. Long hospitalization periods, use of broadspectrum antibiotics, and immunosuppression are major risks for VRE colonization. We aimed to evaluate patients’ characteristics and factors that may contribute to VRE colonization. Materials and Methods: Data of 66 patients with colonization and 112 patients without colonization who were hospitalized in the hematology clinic were collected. Hematological malignancies, preexisting gastrointestinal complaints, the presence of hypogammaglobulinemia at the time of diagnosis, complications like neutropenic enterocolitis (NEC, and Eastern Cooperative Oncology Group (ECOG and Karnofsky performance statuses were recorded. Results: Ages of the patients ranged between 19 and 95 years (mean: 55.99. Karnofsky and ECOG scores were statistically related to VRE colonization (p7 days may also be accepted as a risk factor, independent of diagnosis or antibiotic use. Performance status is also an important factor for colonization, which may be related to poorer hygiene and increased external help.

  20. Significant fibrosis after radiation therapy in a patient with Marfan Syndrome

    International Nuclear Information System (INIS)

    Suarez, Eva M.; Knackstedt, Rebecca J.; Jenrette, Joseph M.

    2014-01-01

    Marfan syndrome is one of the collagen vascular diseases that theoretically predisposes patients to excessive radiation-induced fibrosis yet there is minimal published literature regarding this clinical scenario. We present a patient with a history of Marfan syndrome requiring radiation for a diagnosis of a right brachial plexus malignant nerve sheath tumor. It has been suggested that plasma transforming growth factor beta 1 (TGF-beta1) can be monitored as a predictor of subsequent fibrosis in this population of high risk patients. We therefore monitored the patient's TGF-beta1 level during and after treatment. Despite maintaining stable levels of plasma TGF-beta1, our patient still developed extensive fibrosis resulting in impaired range of motion. Our case reports presents a review of the literature of patients with Marfan syndrome requiring radiation therapy and the limitations of serum markers on predicting long-term toxicity.

  1. Significant fibrosis after radiation therapy in a patient with Marfan Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Suarez, Eva M.; Knackstedt, Rebecca J.; Jenrette, Joseph M. [Medical University of South Carolina, Charleston (United States)

    2014-09-15

    Marfan syndrome is one of the collagen vascular diseases that theoretically predisposes patients to excessive radiation-induced fibrosis yet there is minimal published literature regarding this clinical scenario. We present a patient with a history of Marfan syndrome requiring radiation for a diagnosis of a right brachial plexus malignant nerve sheath tumor. It has been suggested that plasma transforming growth factor beta 1 (TGF-beta1) can be monitored as a predictor of subsequent fibrosis in this population of high risk patients. We therefore monitored the patient's TGF-beta1 level during and after treatment. Despite maintaining stable levels of plasma TGF-beta1, our patient still developed extensive fibrosis resulting in impaired range of motion. Our case reports presents a review of the literature of patients with Marfan syndrome requiring radiation therapy and the limitations of serum markers on predicting long-term toxicity.

  2. Common variants in the TPH2 promoter confer susceptibility to paranoid schizophrenia.

    Science.gov (United States)

    Yi, Zhenghui; Zhang, Chen; Lu, Weihong; Song, Lisheng; Liu, Dentang; Xu, Yifeng; Fang, Yiru

    2012-07-01

    Serotonergic system-related genes may be good candidates in investigating the genetic basis of schizophrenia. Our previous study suggested that promoter region of tryptophan hydroxylase 2 gene (TPH2) may confer the susceptibility to paranoid schizophrenia. In this study, we investigated whether common variants within TPH2 promoter may predispose to paranoid schizophrenia in Han Chinese. A total of 509 patients who met DSM-IV criteria for paranoid schizophrenia and 510 matched healthy controls were recruited for this study. Five polymorphisms within TPH2 promoter region were tested. No statistically significant differences were found in allele or genotype frequencies between schizophrenic patients and healthy controls. The frequency of the rs4448731T-rs6582071A-rs7963803A-rs4570625T-rs11178997A haplotype was significantly higher in cases compared to the controls (P = 0.003; OR = 1.49; 95% CI, 1.15-1.95). Our results suggest that the common variants within TPH2 promoter are associated with paranoid schizophrenia in Han Chinese. Further studies in larger samples are warranted to elucidate the role of TPH2 in the etiology of paranoid schizophrenia.

  3. Relationships of neuroticism and extraversion with axis I and II comorbidity among patients with DSM-IV major depressive disorder.

    Science.gov (United States)

    Jylhä, Pekka; Melartin, Tarja; Isometsä, Erkki

    2009-04-01

    High comorbidity with axis I and II disorders among major depressive disorder (MDD) patients may in part be due to the predisposing personality dimensions of neuroticism and extraversion. However, a comprehensive view of this relationship is lacking. MDD patients (n=193) in the Vantaa Depression Study were interviewed at baseline and at 6 and 18 months with the SCAN and SCID-II, and a general population comparison group (n=388) surveyed by mail. Neuroticism and extraversion were measured with the Eysenck Personality Inventory. A dose-exposure relationship between standardized levels of neuroticism and extraversion and type and number of comorbid axis I and II disorders among patients with MDD was hypothesized. Prevalence and number of comorbid axis I and II disorders increased significantly with increasing level of neuroticism. In contrast, as the level of extraversion increased, the prevalences of social phobia and cluster C personality disorders decreased. Patients with pure MDD or with any comorbid axis I or II disorder had z-scores of neuroticism of +0.46, +0.90 and +1.30 and of extraversion of -0.34, -0.47 and -0.84, respectively. Patients' personality scores were not pre-morbid. Among MDD patients, a positive dose-exposure relationship appears to exist between neuroticism and prevalence and number of comorbid axis I and II disorders. A negative relationship exists between level of extraversion and prevalence of social phobia and cluster C personality disorders. These findings are consistent with the hypothesis that high neuroticism and low extraversion predispose to comorbid axis I and II disorders among patients with MDD.

  4. Thyroid dysfunction in type 2 diabetics seen at the University ...

    African Journals Online (AJOL)

    Chigo Okwuosa

    prevalence of thyroid dysfunction in type-2 diabetics in our environment is not known. This study was ... Thyroid dysfunction was present in 19 (29.7%) of 64 type 2 diabetics and 1 (2.8%) of 36 ... type 2 diabetes may equally predispose both groups to deranged ... of University College Hospital, Ibadan, Nigeria. MATERIALS ...

  5. Candidaemia and cancer: patients are not all the same

    Directory of Open Access Journals (Sweden)

    Medeiros Lidia

    2006-03-01

    Full Text Available Abstract Background Most of the studies about invasive Candida infections in cancer patients have focused on haematological patients. The aim of this study was to provide information about risk factors for candidaemia in patients with solid tumours. Methods Retrospective cohort study. During a 9-year period (1995–2003 we reviewed all cases of candidaemia that affected cancer patients in Santa Casa Complexo Hospitalar, Brazil. Results During the period of study, 210 patients had the diagnosis of candidaemia in our medical centre, and 83 of these patients had cancer (39.5%. The majority of patients with cancer had solid tumours (77.1%, mostly in the alimentary tract. Most of solid cancers were non-metastatic (71.9%. Major diagnoses in patients with haematological neoplasia were acute leukaemia (n = 13, high grade non-Hodgkin lymphoma (n = 5 and Hodgkin's disease (n = 1. Non-Candida albicans species caused 57.8% of the episodes of candidaemia in patients with cancer, mainly in patients with haematological malignancies (p = 0.034. Neutropenia and treatment with corticosteroids were more frequent in the haematological group, in comparison with patients with solid tumours. Only 22.2% of patients with solid tumours were neutropenic before candidaemia. Nonetheless, the presence of ileus and the use of anaerobicides were independent risk factors for candidaemia in patients with solid cancers. The overall mortality in cancer patients with candidaemia was 49.4%. We then compared 2 groups of adult patients with candidaemia. The first was composed of non-neutropenic patients with solid tumours, and the second group included patients without cancer. We found that central venous catheters and gastrointestinal surgery were independently associated with candidaemia in patients with solid tumour. Conclusion Cancer patients with candidaemia seem to have very different predisposing factors to acquire the infection when stratified according to baseline diseases

  6. Test ifm kursus (Dorthe) - Patient discomfort and retakes in periapical examination of mandibular third molars using digital receptors and film

    DEFF Research Database (Denmark)

    Matzen, Louise Hauge; Christensen, Jennifer; Wenzel, Ann

    2009-01-01

    OBJECTIVE: The aim was to compare patient discomfort and evaluate the frequency of retakes using intraoral digital receptors and conventional film for radiographic examination of mandibular third molars. STUDY DESIGN: Both mandibular third molar regions were examined in 110 patients with 2 of 5...... digital intraoral receptors. Discomfort was scored on a visual analog scale (VAS) for each receptor and for film as a reference. If the whole tooth was not imaged on the digital image, a retake was performed using film. t Tests evaluated differences in VAS score, chi-squared tests evaluated differences...... in frequency of remakes, and logistic regression analyses evaluated factors predisposing for retake. RESULTS: No significant difference existed in VAS scores between right and left sides for film (P = .24). The digital receptors were more uncomfortable than film (P

  7. Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH)

    DEFF Research Database (Denmark)

    Staaf, Johan; Törngren, Therese; Rambech, Eva

    2008-01-01

    Disease-predisposing germline mutations in cancer susceptibility genes may consist of large genomic rearrangements that are challenging to detect and characterize using standard PCR-based mutation screening methods. Here, we describe a custom-made zoom-in microarray comparative genomic hybridizat......Disease-predisposing germline mutations in cancer susceptibility genes may consist of large genomic rearrangements that are challenging to detect and characterize using standard PCR-based mutation screening methods. Here, we describe a custom-made zoom-in microarray comparative genomic...... deletions or duplications occurring in BRCA1 (n=11), BRCA2 (n=2), MSH2 (n=7), or MLH1 (n=9). Additionally, we demonstrate its applicability for uncovering complex somatic rearrangements, exemplified by zoom-in analysis of the PTEN and CDKN2A loci in breast cancer cells. The sizes of rearrangements ranged...... from several 100 kb, including large flanking regions, to rearrangements, allowing convenient design...

  8. The incidence of cerebrovascular accidents in patients with pituitary adenoma

    International Nuclear Information System (INIS)

    Brada, M.; Burchell, L.; Ashley, S.; Traish, D.

    1999-01-01

    Background and Purpose: Patients with pituitary adenomas are effectively treated with a combination of surgery, radiotherapy, and medical therapy. Nevertheless, long-term studies suggest increased mortality that is independent of tumor control, with cerebrovascular accidents (CVA) as the major contributing cause. The purpose of this study was to define the frequency of CVAs in a cohort of patients with pituitary adenoma and identify potential predisposing factors. Patients and Methods: A cohort of 331 United Kingdom (UK) residents with pituitary adenoma treated at the Royal Marsden Hospital (RMH) between 1962 and 1986 was studied. The frequency of CVA was assessed from RMH and referring hospital records and clinicians, by postal questionnaire of referring hospitals and general practitioners, and by examination of all death certificates. The data were analyzed by actuarial methods, and risk factors were assessed by multivariate analysis. The data were compared to the incidence of CVA in the general population using a published UK population cohort. Results: Sixty-four of 331 patients developed CVA after primary treatment of pituitary adenoma. The actuarial incidence of CVA was 4% (95% CI: 2-7%) at 5 years, 11% (95% CI: 8-14%) at 10 years, and 21% (95% CI: 16-28%) at 20 years measured from the date of radiotherapy. The relative risk of CVA compared to the general population in the UK was 4.1. Age was an independent predictive factor for CVA. However, the relative risk in comparison to the general population was independent of age. The relative risk of developing CVA was higher in women compared to men, in patients undergoing debulking surgery compared to less radical procedures, and in patients diagnosed and treated in the 1980s compared to previous decades. The dose of radiotherapy was an additional independent prognostic factor on multivariate analysis. Conclusion: Patients with pituitary adenoma treated with surgery and radiotherapy have a significantly increased

  9. Probiotics and infective endocarditis in patients with hereditary hemorrhagic telangiectasia: a clinical case and a review of the literature.

    Science.gov (United States)

    Boumis, Evangelo; Capone, Alessandro; Galati, Vincenzo; Venditti, Carolina; Petrosillo, Nicola

    2018-02-01

    In the last decades, probiotics have been widely used as food supplements because of their putative beneficial health effects. They are generally considered safe but rare reports of serious infections caused by bacteria included in the definition of probiotics raise concerns on their potential pathogenic role in patients with particular predisposing factors. Patients with hereditary hemorrhagic telangiectasia (HHT) are exposed to infections because of telangiectasias and arteriovenous malformations (AVMs). We describe what is, to our knowledge, the first case of infective endocarditis (IE) caused by Lactobacillus rhamnosus in a patient with HHT. A systematic review of the relevant medical literature is presented. A patient with HHT and an aortic bioprosthesis was admitted because of prolonged fever not responding to antibiotics. The patient had a history of repeated serious infections with hospitalizations and prolonged use of antibiotics, and used to assume large amounts of different commercial products containing probiotics. Weeks before the onset of symptoms the patient had been treated with nasal packings and with surgical closure of a nasal bleeding site because of recurrent epistaxis. A diagnosis of IE of the aortic bioprosthesis was made. All blood coltures were positive for L. rhamnosus. The patients responded to a cycle of 6 weeks of amoxicillin/clavulanate plus gentamicin. A systematic review of IE linked to consumption of probiotics, and of infective endocarditis in patients with HHT was conducted. 10 cases of IE linked to probiotics consumption and 6 cases of IE in patients with HHT were found. Consumption of probiotics can pose a risk of serious infections in patients with particular predisposing factors. Patients with HHT can be considered at risk because of their predisposition to infections. Prophylaxis with antibiotics before nasal packings in patients with HHT can be considered.

  10. Bronchoalveolar lavage in patients with interstitial lung diseases: side effects and factors affecting fluid recovery.

    Science.gov (United States)

    Dhillon, D P; Haslam, P L; Townsend, P J; Primett, Z; Collins, J V; Turner-Warwick, M

    1986-05-01

    One hundred and seventy patients with interstitial lung diseases undergoing bronchoalveolar lavage (BAL), were contrasted with 51 patients undergoing fibreoptic bronchoscopy alone to define the factors which predispose to post-lavage side-effects. Transient post-bronchoscopy fall in the peak expired flow (PEF) greater than or equal to 20% occurred in both groups (24% and 23% respectively), and thus was probably related to the bronchoscopy procedure. Post-lavage pyrexia (greater than or equal to 1 degree C) occurred only in the patients undergoing BAL (26%), p less than 0.001. Only 4% with pyrexia required antibiotics, and only 2% with falls in PEF needed bronchodilator therapy. The only significant clinical association was more frequent pyrexia in patients on treatment with prednisolone, particularly in women (p less than 0.01). Pyrexia was also associated with higher lavage fluid introduction volumes (greater than 240 ml). Side effects did not relate to the percentages of lavage fluid recovered, although smokers had lower recoveries and, recoveries tended to be higher in sarcoidosis than cryptogenic fibrosing alveolitis. Serial lavages in 25 patients caused no significant increase in side effects.

  11. Changes in the conjunctival bacterial flora of patients hospitalized in an intensive care unit

    Directory of Open Access Journals (Sweden)

    Afsun Sahin

    Full Text Available ABSTRACT Purpose: To identify the changes in aerobic conjunctival bacterial flora and to correlate culture results with physical health and the duration of patients' hospitalization in an intensive care unit (ICU. Methods: Patients hospitalized in the ICU were included in this study. Conjunctival cultures from all patients were obtained using a standard technique on days 1, 3, 7, and 14. Swabs were plated on nonselective (blood agar and enriched (chocolate agar media within one hour. Visible colonies were isolated, and standard microbiological techniques were used to identify the bacteria. The frequency, identity, and correlation of culture results with patients' physical findings and the duration of hospitalization were determined. Results: We obtained 478 cultures (day 1, 270; day 3, 156; day 7, 36; and day 14, 16 from 135 patients; 288 (60.2% cultures were positive, and 331 microorganisms were isolated. The most frequently isolated microorganism from the cultures was coagulase-negative Staphylococcus species (n=210/331, 63.5%, and the others were Corynebacterium diphtheriae (n=52/331, 15.7%, S. aureus (n=26/331, 7.9%, gram-negative bacilli other than Pseudomonas (n=14/331, 4.2%, Neisseria species (n=8/331, 2.4%, Pseudomonas aeruginosa (n=6/331, 1.8%, Haemophilus influenzae (n=7/331, 2.1%, Acinetobacter species (n=6/331, 1.8%, and Streptococcus species (n=2/331, 0.6%. The frequency of positive cultures significantly increased (p<0.03 with time. Conclusions: Prolonged hospitalization significantly predisposes to bacterial colonization. The colonization rate of S. aureus and Neisseria spp. increased significantly after one week.

  12. Cost Analysis of Patients with Upper Gastrointestinal Hemorrhage

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    Hakan Kocoglu

    2016-01-01

    Full Text Available Aim: Increasing healtcare costs reveal to consider the costs of present diagnostic and treatment modalities. In this study we analysed the costs of hospitalized patients with upper gastrointestinal hemorrhage (UGIB who admitted to Sisli Hamidiye Etfal Education and Research Hospital. Material and Method: In this retrospective study, 524 UGIB patients who admitted to emergency department in 3 years were enrolled. Patients records that include gender, age, complaint at admission, history of medical drug use, presence of comorbidity, blood type, cost of hospitalization, mortality, endoscopic findings, endoscopic forrest’s classification, duration of hospitalization, number of blood transfusion were recorded. Obtained data were evaluated to determine their impact on cost of hospitalization. Results: This study was consisted of 362 male (69,1% and 162 female (30,9% patients. Mean duration of hospitalization was 6.35 ± 4.94 days, mean age was 54.70 ± 20.4 years, and mean number of transfused blood was 2.19 ± 2.25. Mortality rate was 4,2% (n = 22. Mean cost of hospitalization was 827.97 ± 747.11 Turkish Liras (TL. A statistical significance was determined between cost of hospitalization and age (p=0,001, duration of hospitalization (p=0,001, comorbidity (p<0,05, number of transfused blood (p=0,001, and hemoglobine levels at admission (p<0,05. Discussion: Predisposing drug use, presence of comorbidity, age, duration of hospitalization, number of transfused blood were determined as factors that have impact on mortality. Presence of comorbidity, number of comorbid diseases, age, number of transfused blood and hemoglobine levels at admission were determined as factors that have impact on cost of treatment. More studies are needed about duration of hospitalization and number of transfused blood in UGIB patients.

  13. Pulmonary aspergillosis in immunosuppressed patients with haematological malignancies.

    Science.gov (United States)

    Spearing, R L; Pamphilon, D H; Prentice, A G

    1986-06-01

    Invasive pulmonary aspergillosis as a cause of mortality and morbidity in patients with haematological malignancies is becoming more common. Predisposing factors are powerful immunosuppressive chemotherapy, neutropenia and synergistic combinations of antibiotics of great potency and wide spectrum of activity. Clinical and radiological signs are heterogeneous, sometimes misleading and often absent. Treatment is often empirical on suspicion alone. Amphotericin B is the only effective drug but it has marked toxicity, mainly renal. Infection is usually fatal without adequate treatment. This paper describes eight cases of invasive pulmonary aspergillosis seen in one centre in two years, reviews the literature and assesses associated problems.

  14. STRESS AS PREDISPOSING FACTOR OF SOME CHRONIC DISEASES INCLUDING PERIODONTAL DISEASE

    Directory of Open Access Journals (Sweden)

    Dewi-Nurul M Dewi-Nurul

    2006-04-01

    Full Text Available Stress is hypothesized as a common pathway for several related chronic diseases of man. Psychosocial stress as modified by perceptions and coping by patients can lead to physical processes. Psychoneuroimmunologic (PNI studies have suggested that psychosocial stress can alter immune function and increase vulnerability to illnesses. The patients also have high sensitivity to periodontal disease (PD. This article describes the association of stress as a physiological response to diseases such as PD, rheumatoid arthritis (RA, and inflammatory bowel disease. The psychosocial stress can lead to physiological processes through 1 the hypothalamic-pituitary-adrenal (HPA axis leading to glucocortico-steroid secretion; 2 the autonomic nervous system, resulting in the release of catecholamine; or 3 the hypothalamic-pituitary-gonadal axis, resulting in the release of sex hormones. These processes may affect chronic diseases. It can be concluded that psychosocial stress in periodontal disease patients must be considered and social support must be provided in order to achieve an optimum periodontal therapy result.

  15. Prevalence and fungal profile of pulmonary aspergillosis in immunocompromised and immunocompetent patients of a tertiary care hospital

    OpenAIRE

    Prakash Ved, Mishra Prem P, Verma Shashi K, Sinha Shivani, Sharma Mahendra

    2014-01-01

    Background: Aspergillus is a fungus which may present an array of pulmonary manifestations, depending on the patient’s immunological and physiological state. Although the incidence of pulmonary aspergillosis occurs primarily in immunocompromised patients but the incidence is also rising in immunocompetent individuals, especially in developing countries. Aim: The objective of the study was to determine the prevalence and predisposing factors of pulmonary aspergillosis along with species identi...

  16. Developmental cuprizone exposure impairs oligodendrocyte lineages differentially in cortical and white matter tissues and suppresses glutamatergic neurogenesis signals and synaptic plasticity in the hippocampal dentate gyrus of rats

    International Nuclear Information System (INIS)

    Abe, Hajime; Saito, Fumiyo; Tanaka, Takeshi; Mizukami, Sayaka; Hasegawa-Baba, Yasuko; Imatanaka, Nobuya; Akahori, Yumi; Yoshida, Toshinori; Shibutani, Makoto

    2016-01-01

    Developmental cuprizone (CPZ) exposure impairs rat hippocampal neurogenesis. Here, we captured the developmental neurotoxicity profile of CPZ using a region-specific expression microarray analysis in the hippocampal dentate gyrus, corpus callosum, cerebral cortex and cerebellar vermis of rat offspring exposed to 0, 0.1, or 0.4% CPZ in the maternal diet from gestation day 6 to postnatal day (PND) 21. Transcripts of those genes identified as altered were subjected to immunohistochemical analysis on PNDs 21 and 77. Our results showed that transcripts for myelinogenesis-related genes, including Cnp, were selectively downregulated in the cerebral cortex by CPZ at ≥ 0.1% or 0.4% on PND 21. CPZ at 0.4% decreased immunostaining intensity for 2′,3′-cyclic-nucleotide 3′-phosphodiesterase (CNPase) and CNPase + and OLIG2 + oligodendrocyte densities in the cerebral cortex, whereas CNPase immunostaining intensity alone was decreased in the corpus callosum. By contrast, a striking transcript upregulation for Klotho gene and an increased density of Klotho + oligodendrocytes were detected in the corpus callosum at ≥ 0.1%. In the dentate gyrus, CPZ at ≥ 0.1% or 0.4% decreased the transcript levels for Gria1, Grin2a and Ptgs2, genes related to the synapse and synaptic transmission, and the number of GRIA1 + and GRIN2A + hilar γ-aminobutyric acid (GABA)-ergic interneurons and cyclooxygenase-2 + granule cells. All changes were reversed at PND 77. Thus, developmental CPZ exposure reversibly decreased mature oligodendrocytes in both cortical and white matter tissues, and Klotho protected white matter oligodendrocyte growth. CPZ also reversibly targeted glutamatergic signals of GABAergic interneuron to affect dentate gyrus neurogenesis and synaptic plasticity in granule cells. - Highlights: • We examined developmental cuprizone (CPZ) neurotoxicity in maternally exposed rats. • Multiple brain region-specific global gene expression profiling was performed. • CPZ decreased

  17. Developmental cuprizone exposure impairs oligodendrocyte lineages differentially in cortical and white matter tissues and suppresses glutamatergic neurogenesis signals and synaptic plasticity in the hippocampal dentate gyrus of rats

    Energy Technology Data Exchange (ETDEWEB)

    Abe, Hajime [Laboratory of Veterinary Pathology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo 183-8509 (Japan); Pathogenetic Veterinary Science, United Graduate School of Veterinary Sciences, Gifu University, 1-1 Yanagido, Gifu-shi, Gifu 501-1193 (Japan); Saito, Fumiyo [Chemicals Evaluation and Research Institute, Japan, 1-4-25 Koraku, Bunkyo-ku, Tokyo 112-0004 (Japan); Tanaka, Takeshi; Mizukami, Sayaka [Laboratory of Veterinary Pathology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo 183-8509 (Japan); Pathogenetic Veterinary Science, United Graduate School of Veterinary Sciences, Gifu University, 1-1 Yanagido, Gifu-shi, Gifu 501-1193 (Japan); Hasegawa-Baba, Yasuko [Laboratory of Veterinary Pathology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo 183-8509 (Japan); Imatanaka, Nobuya; Akahori, Yumi [Chemicals Evaluation and Research Institute, Japan, 1-4-25 Koraku, Bunkyo-ku, Tokyo 112-0004 (Japan); Yoshida, Toshinori [Laboratory of Veterinary Pathology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo 183-8509 (Japan); Shibutani, Makoto, E-mail: mshibuta@cc.tuat.ac.jp [Laboratory of Veterinary Pathology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu-shi, Tokyo 183-8509 (Japan)

    2016-01-01

    Developmental cuprizone (CPZ) exposure impairs rat hippocampal neurogenesis. Here, we captured the developmental neurotoxicity profile of CPZ using a region-specific expression microarray analysis in the hippocampal dentate gyrus, corpus callosum, cerebral cortex and cerebellar vermis of rat offspring exposed to 0, 0.1, or 0.4% CPZ in the maternal diet from gestation day 6 to postnatal day (PND) 21. Transcripts of those genes identified as altered were subjected to immunohistochemical analysis on PNDs 21 and 77. Our results showed that transcripts for myelinogenesis-related genes, including Cnp, were selectively downregulated in the cerebral cortex by CPZ at ≥ 0.1% or 0.4% on PND 21. CPZ at 0.4% decreased immunostaining intensity for 2′,3′-cyclic-nucleotide 3′-phosphodiesterase (CNPase) and CNPase{sup +} and OLIG2{sup +} oligodendrocyte densities in the cerebral cortex, whereas CNPase immunostaining intensity alone was decreased in the corpus callosum. By contrast, a striking transcript upregulation for Klotho gene and an increased density of Klotho{sup +} oligodendrocytes were detected in the corpus callosum at ≥ 0.1%. In the dentate gyrus, CPZ at ≥ 0.1% or 0.4% decreased the transcript levels for Gria1, Grin2a and Ptgs2, genes related to the synapse and synaptic transmission, and the number of GRIA1{sup +} and GRIN2A{sup +} hilar γ-aminobutyric acid (GABA)-ergic interneurons and cyclooxygenase-2{sup +} granule cells. All changes were reversed at PND 77. Thus, developmental CPZ exposure reversibly decreased mature oligodendrocytes in both cortical and white matter tissues, and Klotho protected white matter oligodendrocyte growth. CPZ also reversibly targeted glutamatergic signals of GABAergic interneuron to affect dentate gyrus neurogenesis and synaptic plasticity in granule cells. - Highlights: • We examined developmental cuprizone (CPZ) neurotoxicity in maternally exposed rats. • Multiple brain region-specific global gene expression profiling

  18. Severe hyperparathyroidism in a pre-dialysis chronic kidney disease patient treated with a very low protein diet.

    Science.gov (United States)

    Ohta, Eriko; Akazawa, Masanobu; Noda, Yumi; Mandai, Shintaro; Naito, Shotaro; Ohta, Akihito; Sohara, Eisei; Okado, Tomokazu; Rai, Tatemitsu; Uchida, Shinichi; Sasaki, Sei

    2012-03-01

    The present report describes a case of a 64-year-old pre-dialysis woman with chronic kidney disease (CKD) stage 5, who developed severe hyperparathyroidism. This patient had been on a very low protein diet (VLPD) to delay the progression of CKD and the need for renal replacement therapy (RRT). Her serum calcium levels were high-normal to slightly high during this time. However, her serum intact parathyroid hormone (PTH) levels increased from 400 to 1160 pg/ml rapidly over a period of 3 months. Serum 1,25-(OH)2D levels were low, and ultrasound of the neck showed three markedly enlarged parathyroid glands exceeding 2 cm. Parathyroidectomy was performed, and all glands showed nodular hyperplasia, which indicated severe secondary hyperparathyroidism leading to tertiary. Severe secondary hyperparathyroidism requiring surgical intervention is usually observed in patients with long-term RRT and is relatively rare in the pre-dialysis patient. In this case, extension of the pre-dialysis period by VLPD may have predisposed this patient to develop severe secondary hyperparathyroidism. Thus, careful monitoring of calcium, phosphorus, and PTH may be necessary in patients treated with VLPD even before renal replacement therapy. Furthermore, initiation of dialysis should not be excessively delayed by strict protein restriction dietary therapy.

  19. Infection with the Mycobacterium avium complex in patients without predisposing conditons: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Andrea Barral Martins

    Full Text Available Nontuberculous Mycobacteria (NTM, especially Mycobacterium avium-intracellulare complex (MAC, has been considered responsible for human disease, especially in HIV patients. Nevertheless, it has been diagnosed in immunocompetent elderly men, frequently with previous pulmonary disease: chronic obstructive lung disease (COPD, complications of tuberculosis, pulmonary fibrosis and bronchiectasis. We relate the case of a female patient, 51 years old, with continuously acid fast bacilli (AFB smears and with three previous treatments, which were conducted at the multiresistant tuberculosis (MRTB service. MAC was identified in the sputum culture, and she received treatment for one year. The posterior sputum exams were negative. The cavity lesions observed in the high-resolution computed tomography (HRCT were reduced, and some of the nodule lesions became bronchiectasis, even after the end of treatment. We agree with the literature reports that indicate that MAC is the cause of bronchiectasis. It is necessary to identify the type of mycobacteria in immunocompetent individuals with positive AFB smears that do not become negative with tuberculosis treatment.

  20. Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.

    Science.gov (United States)

    Hirasawa, Akira; Imoto, Issei; Naruto, Takuya; Akahane, Tomoko; Yamagami, Wataru; Nomura, Hiroyuki; Masuda, Kiyoshi; Susumu, Nobuyuki; Tsuda, Hitoshi; Aoki, Daisuke

    2017-12-22

    Pathogenic germline BRCA1 , BRCA2 ( BRCA1/2 ), and several other gene variants predispose women to primary ovarian, fallopian tube, and peritoneal carcinoma (OC), although variant frequency and relevance information is scarce in Japanese women with OC. Using targeted panel sequencing, we screened 230 unselected Japanese women with OC from our hospital-based cohort for pathogenic germline variants in 75 or 79 OC-associated genes. Pathogenic variants of 11 genes were identified in 41 (17.8%) women: 19 (8.3%; BRCA1 ), 8 (3.5%; BRCA2 ), 6 (2.6%; mismatch repair genes), 3 (1.3%; RAD51D ), 2 (0.9%; ATM ), 1 (0.4%; MRE11A ), 1 ( FANCC ), and 1 ( GABRA6 ). Carriers of BRCA1/2 or any other tested gene pathogenic variants were more likely to be diagnosed younger, have first or second-degree relatives with OC, and have OC classified as high-grade serous carcinoma (HGSC). After adjustment for these variables, all 3 features were independent predictive factors for pathogenic variants in any tested genes whereas only the latter two remained for variants in BRCA1/2 . Our data indicate similar variant prevalence in Japanese patients with OC and other ethnic groups and suggest that HGSC and OC family history may facilitate genetic predisposition prediction in Japanese patients with OC and referring high-risk patients for genetic counseling and testing.

  1. Prevalence of hereditary factors predisposing to thrombosis in 260 patients diagnosed as thrombosis and investigated at Hospital Israelita Albert Einstein, São Paulo, Brazil

    Directory of Open Access Journals (Sweden)

    João Carlos de Campos Guerra

    2005-06-01

    Full Text Available Objective: To evaluate the prevalence of genetic polymorphism incoagulation factors in thromboembolic disease in patients withclinical suspicion of thrombosis. Methods: A retrospective casecollection was performed searching all patients with clinicalsuspicion of thrombosis who were submitted to coagulation factoranalysis at the Hospital Israelita Albert Einstein from November2003 to April 2004. We included 260 patients, 118 male and 142female, mean age of 46 years. Prothrombin mutation and Leiden Vfactor were evaluated with multiplex PCR. Protein C, S and lupusanticoagulant were studied in coagulation assays. AntithrombinIII was studied by chromogenic assay. Anticardiolipin was evaluatedthrough an immunoenzymatic method and homocysteine by animmunometric method. Results: Factor V Leiden was found in 22cases (8.3 %, one homozygote and 21 heterozygotes. Prothrombinmutation was found in 18 cases (6.8%, one homozygote and 17heterozygotes. Forty cases with genetic alteration showed 34 caseswith thrombosis (85%, 29 venous thrombosis and 4 arterialthrombosis. One hundred and seven patients were tested foranticardiolipin antibodies: 21 were anticardiolipin antibody positives(19.6%, and 15 of them had IgG antibodies, 3 IgM and 3 IgA. Sixteenof the 21 patients had thrombosis, 11 venous thrombosis and 5arterial thrombosis. Lupus anticoagulant was found in two patients,both with thrombosis. There was only one case ofhyperhomocystinemia, with thrombosis. Protein C, protein S andantithrombin III deficiencies were found in 63 cases (12%. Out of31 cases with thrombosis (49,2 %, 26 cases had venous thrombosisand 5 had arterial thrombosis. Conclusion: Thromboembolicdisease is clearly associated with genetic factors but there isconsensus its cause is multifactorial. Genetic alterations, however,should be studied when there is clinical evidence of thrombosis,at least in young patients.

  2. Ansa Pancreatica: A Case Report of a Type of Ductal Variation in a Patient with Idiopathic Acute Recurrent Pancreatitis

    International Nuclear Information System (INIS)

    Kim, Hye Mi; Park, Jung Yup; Kim, Myeong Jin

    2010-01-01

    Ansa pancreatica is a rare type of pancreatic ductal variation. Recently, ansa pancreatic has been considered as a predisposing factor in patients with idiopathic acute pancreatitis. To the best of our knowledge, no previously published report in Korea has described ansa pancreatica. We report a case of acute recurrent pancreatitis with ansa pancreatica, which was revealed on magnetic resonance cholangiopancreatography (MRCP)

  3. Age-related defects in erythrocyte 2,3-diphosphoglycerate metabolism in dementia.

    Science.gov (United States)

    Kaminsky, Yury G; Reddy, V Prakash; Ashraf, Ghulam Md; Ahmad, Ausaf; Benberin, Valery V; Kosenko, Elena A; Aliev, Gjumrakch

    2013-01-01

    Alzheimer disease (AD) is the most common dementing illness. Metabolic defects in the brain with aging contribute to the pathogenesis of AD. These changes can be found systematically and thus can be used as potential biomarkers. Erythrocytes (RBCs) are passive "reporter cells" that are not well studied in AD. In the present study, we analyzed an array of glycolytic and related enzymes and intermediates in RBCs from patients with AD and non-Alzheimer dementia (NA), age-matched controls (AC) and young adult controls (YC). AD is characterized by higher activities of hexokinase, phosphofructokinase, and bisphosphoglycerate mutase and bisphosphoglycerate phosphatase in RBCs. In our study, we observed that glycolytic and related enzymes displayed significantly lower activities in AC. However, similar or significantly higher activities were observed in AD and NA groups as compared to YC group. 2,3-diphosphoglycerate (2,3-DPG) levels were significantly decreased in AD and NA patients. The pattern of changes between groups in the above indices strongly correlates with each other. Collectively, our data suggested that AD and NA patients are associated with chronic disturbance of 2,3-DPG metabolism in RBCs. These defects may play a pivotal role in physiological processes, which predispose elderly subjects to AD and NA.

  4. Clinical strategies for complete denture rehabilitation in a patient with Parkinson disease and reduced neuromuscular control.

    Science.gov (United States)

    Haralur, Satheesh B

    2015-01-01

    The dentist has a large role in geriatric health care for the ever increasing elder population with associated physical and neurological disorders. The Parkinson disease is progressive neurological disorder with resting tremor, bradykinesia, akinesia, and postural instability. The psychological components of disease include depression, anxiety, and cognitive deficiency. Poor oral hygiene, increased susceptibility for dental caries, and periodontal diseases predispose them to early edentulism. The number of Parkinson affected patients visiting dental clinic seeking complete denture is growing. This case report explains the steps involved in the complete denture rehabilitation of Parkinson patient. The effective prosthesis will help in alleviating functional, aesthetic, and psychological disabilities of the patient.

  5. Clinical Strategies for Complete Denture Rehabilitation in a Patient with Parkinson Disease and Reduced Neuromuscular Control

    Directory of Open Access Journals (Sweden)

    Satheesh B. Haralur

    2015-01-01

    Full Text Available The dentist has a large role in geriatric health care for the ever increasing elder population with associated physical and neurological disorders. The Parkinson disease is progressive neurological disorder with resting tremor, bradykinesia, akinesia, and postural instability. The psychological components of disease include depression, anxiety, and cognitive deficiency. Poor oral hygiene, increased susceptibility for dental caries, and periodontal diseases predispose them to early edentulism. The number of Parkinson affected patients visiting dental clinic seeking complete denture is growing. This case report explains the steps involved in the complete denture rehabilitation of Parkinson patient. The effective prosthesis will help in alleviating functional, aesthetic, and psychological disabilities of the patient.

  6. Functional convergence of Akt protein with VEGFR-1 in human endothelial progenitor cells exposed to sera from patient with type 2 diabetes mellitus.

    Science.gov (United States)

    Hassanpour, Mehdi; Rezabakhsh, Aysa; Rahbarghazi, Reza; Nourazarian, Alireza; Nouri, Mohammad; Avci, Çığır Biray; Ghaderi, Shahrooz; Alidadyani, Neda; Bagca, Bakiye Goker; Bagheri, Hesam Saghaei

    2017-11-01

    Diabetes mellitus type 2 predisposes patients to various microvascular complications. In the current experiment, the potent role of diabetes mellitus was investigated on the content of VEGFR-1, -2, Tie-1 and -2, and Akt in human endothelial progenitor cells. The gene expression profile of mTOR and Hedgehog signaling pathways were measured by PCR array. The possible crosstalk between RTKs, mTOR and Hedgehog signaling was also studied by bioinformatic analysis. Endothelial progenitor cells were incubated with serum from normal and diabetic for 7days. Compared to non-treated cells, diabetic serum-induced cell apoptosis (~2-fold) and prohibited cell migration toward bFGF (p1). ELISA analysis showed that diabetes exposed cells had increased abundance of Tie-1, -2 and VEGFR-2 and reduced amount of VEGFR-1 (p1) in diabetic cells. Western blotting showed a marked reduction in the protein level of Akt after cells exposure to serum from diabetic subjects (p1). PCR array revealed a significant stimulation of both mTOR and Hedgehog signaling pathways in diabetic cells (p1, -2 and Tie-2, but not Tie-1, are master regulators of angiogenesis. There is a crosstalk between RTKs and mTOR signaling by involving P62, GABARAPL1, and HTT genes. It seems that physical interaction and co-expression of Akt decreased the level of VEGFR-1 in diabetic cells. Regarding data from the present experiment, diabetic serum contributed to uncontrolled induction of both mTOR and Hedgehog signaling in endothelial progenitor cells. Diabetes mellitus induces mTOR pathway by involving receptor tyrosine kinases while Hedgehog stimulation is independent of these receptors. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma

    DEFF Research Database (Denmark)

    Ylisaukko-oja, Sanna K.; Cybulski, Cezary; Lehtonen, Rainer

    2006-01-01

    Germline mutations in the fumarate hydratase (FH) gene were recently shown to predispose to the dominantly inherited syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC). HLRCC is characterized by benign leiomyomas of the skin and the uterus, renal cell carcinoma, and uterine...... leiomyosarcoma. The aim of this study was to identify new families with FH mutations, and to further examine the tumor spectrum associated with FH mutations. FH germline mutations were screened from 89 patients with RCC, skin leiomyomas or ovarian tumors. Subsequently, 13 ovarian and 48 bladder carcinomas were...

  8. Status of Taenia solium cysticercosis and predisposing factors in developing countries involved in pig farming

    Directory of Open Access Journals (Sweden)

    Joseph M. Kungu

    2015-05-01

    Full Text Available Taenia solium cysticercosis is a disease of pigs and humans populations considered endemic in many developing countries of Latin America, Africa, and South East Asia having serious impact on public health and agriculture. We conducted an in-depth comparative analysis of literature on the disease situation and predisposing factors in selected countries known to be at the interface of poverty-emerging livestock systems-zoonoses and with a growing small holder pig industry. Transmission, methods of diagnosis and employed control strategies of T. solium infection in pig and human populations in these countries are also discussed. Limited knowledge on porcine cysticercosis (PC by various stakeholders expected to be key players in its control has undermined efforts for eliminating this potentially eradicable condition. Poor pig production practices, poor hygiene, and sanitation habits have also been important in the maintenance of the T. solium life-cycle. The major gaps identified in this review include scanty current information on PC prevalence in pigs with hardly any reports on the condition in humans in most developing countries. Factors affecting pattern of the infection and how they interact at the different levels of the pig value chain have not been exhaustively studied. Information on socioeconomic and public health impact is inadequate and not current.

  9. Prevalence of Mental Health Disorders Among Caregivers of Patients With Alzheimer Disease.

    Science.gov (United States)

    Sallim, Adnaan Bin; Sayampanathan, Andrew Arjun; Cuttilan, Amit; Chun-Man Ho, Roger

    2015-12-01

    The overall prevalence of mental health disorders among caregivers of patients with Alzheimer disease (AD) remains unclear. This meta-analysis aims to evaluate the prevalence of various mental health disorders among caregivers of patients with AD globally and to determine factors that predispose to development of the aforementioned, namely gender of caregiver, gender of patient, and caregiver-patient relationship. A total of 17 studies were eligible for systematic review and meta-analysis. A meta-analysis of published work was performed using the random effect model. Data analysis was done with RevMan 5.3. A total of 10,825 caregivers were assessed. The aggregate prevalence of depression among caregivers was 34.0%, anxiety at 43.6%, and use of psychotropic drugs at 27.2%. Meta-analysis revealed the odds of having of depression was 1.53 times higher in female caregivers (95% confidence interval [CI] 1.29-1.83; I(2) = 7%; Z = 4.78; P mental health disorders, particularly depression and anxiety, as compared with the general population and with their counterparts caring for patients with other illnesses. The higher prevalence is mainly observed in female caregivers, caregivers with male care-recipients, and caregivers who have a spousal relationship with care-recipients. Prevalence of anxiety was also notably higher in this cohort but more research needs to be done in this area. Copyright © 2015 AMDA – The Society for Post-Acute and Long-Term Care Medicine. Published by Elsevier Inc. All rights reserved.

  10. Characteristics of Neonatal Pneumothorax in Saudi Arabia: Three Years’ Experience

    Directory of Open Access Journals (Sweden)

    Abdulrahman Al Matary

    2017-03-01

    Full Text Available Objectives: To identify the incidence, clinical characteristics, predisposing factors, morbidity, and mortality among hospitalized neonates with pneumothorax. Methods: The records of 2 204 infants admitted to the neonatal intensive care unit at King Fahad Medical City, Saudi Arabia, between 2011 and 2014 were reviewed. All newborns hospitalized in the neonatal intensive care unit with pneumothorax were included in the study. Participants were evaluated for baseline characteristics, predisposing factors of neonatal pneumothorax (NP, accompanying disorders, and mortality. Results: Pneumothorax was diagnosed in 86 patients, with an incidence of 3.9%. The most common predisposing factors of NP were bag mask ventilation, followed by hypoplastic lung disease, and mechanical ventilation. Twenty-five (29.1% newborns with pneumothorax died. The most common accompanying disorder was premature rupture of membrane. On multivariate analysis, pulmonary hemorrhage, a birth weight < 2 500 g, and low Apgar score (< 7 at one minute were independently associated with mortality. Conclusions: This study highlights the extent of NP problems among hospitalized neonates and the most common predisposing factors of NP.

  11. Risk factors in the mother-child relationship that predispose to the development of early childhood caries.

    Science.gov (United States)

    Moimaz, S A S; Garbin, A J Í; Lima, A M C; Lolli, L F; Saliba, O; Garbin, C A S

    2014-08-01

    This study focused on the risk factors in mother-child relationship that predispose babies to the development of dental caries. A prospective cohort study with 80 mother-child pairs was conducted. The mothers responded at 12, 18 and 30 months after their children's birth, to questions about variables related to diet, sucking habits, and oral care. Children were clinically examined to verify caries lesions (white spot lesions or cavitation). Data were analysed using Chi squared or Fisher's exact tests. The significance level was set at 5%. Of the total, 3.75% showed cavitated lesions after 18 months; 6.25 and 45% had spot white lesions, respectively, at 18 and 30 months. The cariogenic diet was high at 12 (63.75%) and 30 (88.75%) months. Good oral hygiene was present in a minority of children at 12 months (46.25%), but increased at 30 months (65%), helping to prevent cavities and white spot lesions over this period (p = 0.0005). The variables of the blocks sucking habits and diet were not associated with caries. The lack of oral care in children was a risk factor for dental caries development.

  12. Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association.

    Science.gov (United States)

    Uehara, Tomoko; Hosogaya, Naoki; Matsuo, Nobutake; Kosaki, Kenjiro

    2018-05-07

    Systemic lupus erythematosus (SLE) has been reported among patients with RASopathy. Five patients have been reported: three with SHOC2 variants, one with a PTPN11 variant, and one with a KRAS variant. SHOC2 variant might represent a relatively common predisposing factor for SLE among the RASopathy genes. However, the clinical details were only reported for two patients, while information on the remaining patient appeared only in a tabular format with minimal clinical description. Here, we report a patient with a SHOC2 variant and SLE. The proband was a 28-year-old male patient with intellectual disabilities, a short stature, dysmorphic facial features, and thin hair. He developed hypertrophic cardiomyopathy and afebrile generalized seizures at the ages of 7 and 18 years, respectively. At the age of 24 years, he presented with a 3-day history of intermittent fever accompanied by right chest pain and a malar butterfly rash. He fulfilled both the American College of Rheumatology (ACR) criteria and the Systemic Lupus International Collaborating Clinics (SLICC) criteria for SLE and was successfully treated with prednisolone. Medical exome sequencing identified a de novo SHOC2 variant (c.4A > G, p.S2G). The present report of a second patient who fulfills both the ACR criteria and the SLICC criteria of SLE. We suggest that the association between SHOC2 variant and SLE represents more than a chance association. In the event of fever of unknown origin in patients with constitutional SHOC2 pathogenic variant, SLE should be suspected. © 2018 Wiley Periodicals, Inc.

  13. Etiology and outcome in patients with upper gastrointestinal bleeding: Study on 4747 patients in the central region of Iran.

    Science.gov (United States)

    Minakari, Mohammad; Badihian, Shervin; Jalalpour, Pooyan; Sebghatollahi, Vahid

    2017-04-01

    Upper gastrointestinal bleeding (UGIB) is a threatening condition leading to urgent hospitalization. This study aims to investigate etiology and outcome in UGIB patients in Iran. Medical records of GIB patients admitted to Alzahra referral hospital (in Isfahan) during 2010-2015 were retrospectively reviewed for demographic data, comorbidities, history of smoking and taking non-steroidal anti-inflammatory drugs (NSAIDs), presenting symptoms, endoscopic findings, therapeutic endoscopy, blood products' infusion, surgical intervention, rebleeding, and mortality. A total of 4747 patients were enrolled in the study (69.2% men, mean age = 55.46 ± 21.98 years). Hematemesis was the most frequent presenting symptom (63.5%). Peptic ulcer (duodenal ulcer in most cases) was seen as the main reason for UGIB (42.4%). Rebleeding (present in 16.5% of patients) was found to be more frequent in patients with older age, presenting sign of hematochezia and hypotension, history of taking NSAIDs and smoking, presence of comorbidities, history of bleeding because of UGI tract neoplasm and esophageal varices, history of needing blood products' infusion, and history of therapeutic endoscopy or surgical intervention (P < 0.005). We found that mortality (5.5% in total) was also higher in the same group of patients that were seen to have a higher tendency for rebleeding (P < 0.005). Peptic ulcers are the most common cause of UGIB. Comorbidities, hemodynamic instability, high-risk endoscopic stigmata, history of smoking and taking NSAIDs, gastric and esophageal malignancies, may be important predisposing factors for rebleeding and mortality in patients with UGIB. © 2016 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.

  14. Unexpectedly diagnosed Caroli's disease on HIDA scintigraphy in a patient with calculous cholecystitis

    Energy Technology Data Exchange (ETDEWEB)

    Shinto, A. S.; Selvakumar, J. [Amala Institute of Medical Sciences, Amalanagar (India)

    2010-12-15

    Caroli's disease, which is a rare condition with congenital dilatation if the intrahepatic bile ducts, is usually diagnosed postoperatively. The clinical suspicion in a patient with gallstones and choledocholithiasis presenting with dilated intrahepatic biliary radicles and jaundice is usually an obstructive etiology. However, scintigraphic evaluation of this entity, as in this case, gives additional information on liver function, biliary drainage and predisposing conditions like Caroli's disease, which could be missed otherwise

  15. Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.

    Science.gov (United States)

    Pathmanaban, Omar N; Sadler, Katherine V; Kamaly-Asl, Ian D; King, Andrew T; Rutherford, Scott A; Hammerbeck-Ward, Charlotte; McCabe, Martin G; Kilday, John-Paul; Beetz, Christian; Poplawski, Nicola K; Evans, D Gareth; Smith, Miriam J

    2017-09-01

    Meningiomas and schwannomas are usually sporadic, isolated tumors occurring in adults older than 60 years and are rare in children and young adults. Multiple schwannomas and/or meningiomas are more frequently associated with a tumor suppressor syndrome and, accordingly, trigger genetic testing, whereas solitary tumors do not. Nevertheless, apparently sporadic tumors in young patients may herald a genetic syndrome. To determine the frequency of the known heritable meningioma- or schwannoma-predisposing mutations in children and young adults presenting with a solitary meningioma or schwannoma. Using the database of the Manchester Centre for Genomic Medicine, this cohort study analyzed lymphocyte DNA from young individuals prospectively referred to the clinic for genetic testing between January 1, 1990, and December 31, 2016, on presentation with a single meningioma (n = 42) or schwannoma (n = 135) before age 25 years. Sequencing data were also examined from an additional 39 patients with neurofibromatosis type 2 who were retrospectively identified as having a solitary tumor before age 25 years. Patients with schwannoma were screened for NF2, SMARCB1, and LZTR1 gene mutations, while patients with meningioma were screened for NF2, SMARCB1, SMARCE1, and SUFU. The type of underlying genetic mutation, or lack of a predisposing mutation, was associated with the presenting tumor type and subsequent development of additional tumors or other features of known schwannoma- and meningioma-predisposing syndromes. In 2 cohorts of patients who presented with an isolated meningioma (n = 42; median [range] age, 11 [1-24] years; 22 female) or schwannoma (n = 135; median [range] age, 18 [0.2-24] years; 60 female) before age 25 years, 16 of 42 patients (38%) had a predisposing mutation to meningioma and 27 of 135 patients (20%) to schwannoma, respectively. In the solitary meningioma cohort, 34 of 63 patients (54%) had a constitutional mutation in a known meningioma

  16. Treatment of type 2 diabetes mellitus by viral eradication in chronic hepatitis C: Myth or reality?

    Science.gov (United States)

    Vanni, Ester; Bugianesi, Elisabetta; Saracco, Giorgio

    2016-02-01

    Chronic hepatitis C is a systemic disease inducing metabolic alterations leading to extrahepatic consequences. In particular, hepatitis C virus (HCV) infection seems to increase the risk of incident type 2 diabetes mellitus in predisposed individuals, independently of liver disease stage. The mechanisms through which hepatitis C induces T2DM involve direct viral effects, insulin resistance, pro-inflammatory cytokines and other immune-mediated processes. Many studies have reported the clinical consequences of type 2 diabetes mellitus on hepatitis C outcome, but very few studies have addressed the issue of microangiopathic complications among patients with hepatitis C only, who develop type 2 diabetes mellitus. Moreover, clinical trials in HCV-positive patients have reported improvement in glucose metabolism after antiviral treatment; recent studies have suggested that this metabolic amelioration might have a clinical impact on type 2 diabetes mellitus-related complications. These observations raise the question as to whether the HCV eradication may also have an impact on the future morbidity and mortality due to type 2 diabetes mellitus. The scope of this review is to summarise the current evidence linking successful antiviral treatment and the prevention of type 2 diabetes mellitus and its complications in hepatitis C-infected patients. Copyright © 2015 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

  17. Univariate and multiple linear regression analyses for 23 single nucleotide polymorphisms in 14 genes predisposing to chronic glomerular diseases and IgA nephropathy in Han Chinese.

    Science.gov (United States)

    Wang, Hui; Sui, Weiguo; Xue, Wen; Wu, Junyong; Chen, Jiejing; Dai, Yong

    2014-09-01

    Immunoglobulin A nephropathy (IgAN) is a complex trait regulated by the interaction among multiple physiologic regulatory systems and probably involving numerous genes, which leads to inconsistent findings in genetic studies. One possibility of failure to replicate some single-locus results is that the underlying genetics of IgAN nephropathy is based on multiple genes with minor effects. To learn the association between 23 single nucleotide polymorphisms (SNPs) in 14 genes predisposing to chronic glomerular diseases and IgAN in Han males, the 23 SNPs genotypes of 21 Han males were detected and analyzed with a BaiO gene chip, and their associations were analyzed with univariate analysis and multiple linear regression analysis. Analysis showed that CTLA4 rs231726 and CR2 rs1048971 revealed a significant association with IgAN. These findings support the multi-gene nature of the etiology of IgAN and propose a potential gene-gene interactive model for future studies.

  18. Obturator internus pyomyositis manifested as sciatica in a patient with subacute bacterial endocarditis: A rare case report.

    Science.gov (United States)

    Hsu, Wei-Ching; Hsu, Jin-Yi; Chen, Michael Yu-Chih; Liang, Chung-Chao

    2016-07-01

    Pyomyositis is a pyogenic infection of the skeletal muscles causing myalgia and fever in patients. Hematogenous seeding engendered by persistent bacteremia and septic embolism is usually the underlying cause of the disease. Trauma, intravenous drug use, and immunodeficiency are the main predisposing factors.Obturator internus pyomyositis with sciatica has not previously been reported. We report a rare case of a patient with subacute bacterial endocarditis presenting with left buttock pain and sciatica.Computed tomography confirmed the diagnosis of obturator internus pyomyositis. The patient was discharged uneventfully after successful antibiotic treatment.The mortality rate of patients who have pyomyositis comorbid with another condition or disease is extremely high. Early diagnosis and aggressive management are imperative.

  19. Clinical forms of shoulder instability in pediatric patients

    Directory of Open Access Journals (Sweden)

    Yaroslav N. Proshchenko

    2016-12-01

    Full Text Available Background. The recurrence rate of adolescent chronic shoulder instability is approximately 56%–68%. However, this pathology is often missed in childhood and adolescence. Aim. To identify the clinical forms of shoulder joint instability in pediatric patients. Materials and methods. The authors present the data from 57 pediatric patients aged 3−17 years with a total of 61 unstable shoulder joints. All patients were divided into groups according to the form of instability. Traumatic chronic shoulder instability was identified in 40 patients (Bankart and Hill–Sachs injuries. Of these, non-traumatic shoulder instability was diagnose in 17, including five with recurrent dislocation, and spontaneous shoulder dislocation due to dysplasia of glenoid and labrum was diagnosed in 12. Of the 57 patients in the study cohort, 53 underwent surgery. Postoperatively, two patients developed recurrent shoulder dislocation (Andreev–Boichev technique due type III shoulder dysplasia in the first patient and multidirectional injury in the second. Conclusions. Shoulder joint instability should be considered as the traumatic or non-traumatic form. Treatment decisions should be based on anatomical characteristics that predispose to recurrent dislocation.

  20. Primary hepatic actinomycosis mimicking a tumor (inflammatory pseudotumor: Case report and literature review

    Directory of Open Access Journals (Sweden)

    Ayşe Batirel

    2015-06-01

    Full Text Available Actinomycosis often manifests with abscesses in the cervicofacial region. Hepatic involvement occurs usually secondary to an intraabdominal infection. “Isolated or primary hepatic actinomycosis (PHA defines actinomycosis in which the source of infection cannot be demonstrated elsewhere. Herein, we aimed to highlight hepatic actinomycosis in the differential diagnosis of hepatic mass lesions, and also its occurrence even in patients without underlying risk factors. A 24-year-old man, who presented with epigastric and right-upper-quadrant abdominal pain, fever, weight loss, and had a tumor-like mass in the liver was admitted to our hospital. He had no predisposing risk factors or comorbidities. We reviewed all the cases with PHA, who had no predisposing risk factors, in English medical literature from 1993 to 2014. Actinomycotic hepatic pseudotumors should be considered in the differential diagnosis of solitary liver lesions even in patients without any predisposing factors. Multi-disciplinary approach is important in the diagnosis and management. J Microbiol Infect Dis 2015;5(2: 79-84

  1. Motor performance in Prader-Willi syndrome patients and its potential influence on caregiver’s quality of life

    OpenAIRE

    Valeria Jia-Yi Chiu; Li-Ping Tsai; Jang-Ting Wei; I-Shiang Tzeng; Hsin-Chi Wu

    2017-01-01

    Background Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by a variety of physical, cognitive, and behavioral impairments. PWS is a unique sarcopenia model characterized by an abnormal increase in body fat mass and a decrease in muscle mass that predisposes patients to reduced physical activity, functional limitations, and disability. These manifestations may require both symptomatic and supportive management, thus negatively influencing their lifelong fa...

  2. Age-dependent alterations in Ca2+ homeostasis: role of TRPV5 and TRPV6.

    NARCIS (Netherlands)

    Abel, M. van; Huybers, S.; Hoenderop, J.G.J.; Kemp, J.W.C.M. van der; Leeuwen, J.P.P.M. van; Bindels, R.J.M.

    2006-01-01

    Aging is associated with alterations in Ca2+ homeostasis, which predisposes elder people to hyperparathyroidism and osteoporosis. Intestinal Ca2+ absorption decreases with aging and, in particular, active transport of Ca2+ by the duodenum. In addition, there are age-related changes in renal Ca2+

  3. Factors predisposing to rhegmatogenous retinal detachment among ...

    African Journals Online (AJOL)

    10.5%] patients. Conclusion: The study showed that myopia, ocular trauma, pseudophakia and aphakia in decreasing frequency were the main risk factors associated with RRD among Ethiopians attending a tertiary eye care centre.

  4. Endogenous Endophthalmitis in Patients with MRSA Septicemia: A Case Series and Review of Literature.

    Science.gov (United States)

    Shenoy, Shailaja Bhat; Thotakura, Meena; Kamath, Yogish; Bekur, Ragini

    2016-10-01

    To report the presentation, predisposing factors, clinical features and outcome in 6 eyes of 3 patients with endogenous endophthalmitis secondary to methicillin resistant staphylococcus aureus (MRSA) septicaemia. Retrospective review of case records of 3 patients who were treated for endogenous endophthalmitis secondary to MRSA septicaemia in a tertiary referral institution. All three patients had systemic predisposition to endogenous endophthalmitis (diabetes, urosepsis). Two patients presented within 1 week of onset of visual symptoms and the third after 3 months. Blood culture was positive for MRSA in all patients. Visual and anatomical improvement was noted in two patients who presented early. The third patient's visual outcome despite early treatment with intravitreal antibiotics and vitrectomy was not satisfactory. Endogenous endophthalmitis by MRSA is a rare but serious condition. Early and specific therapy based on reliable detection of the underlying microorganism is needed for good anatomical and functional outcome.

  5. Obstructive sleep apnoea syndrome in a patient with retrosternal goiter: a case report

    International Nuclear Information System (INIS)

    Sevketbeyoglu, H.; Kara, K.; Ince, M.; Karaagac, H.

    2012-01-01

    Full text: Introduction: Obstructive sleep apnoea syndrome (OSAS) is associated with a large number of predisposing factors (obesity, nasal obstruction, adenoid hypertrophy, macroglossia etc.). In addition to these factors goiter and hypothyroidism have been reported to be associated with OSAS. Objectives and tasks: In our case with retrosternal goiter, values of OSAS before and after thyroidectomy were shown. Materials and methods: Seventy-two years old, BMI: 26,8 kg/m 2 , female patient was admitted our hospital because of complaints to stop breathing during sleep, snoring, morning headache and daytime drowsiness. Results: Thorax CT and ultrasonography of thyroid shown retrosternal goiter and left tracheal deviation. Severe OSAS was diagnosed by polysomnography (PSG). Thyroid function tests were normal. Apneahypopnea index (AHI) was 63,1/h. Patients was performed 7 cm H 2 O nasal continuous positive airway pressure (gvrnCPAP). AHI was 11,4/h under nCPAP. One month after OSAS diagnosis the patient underwent thyroidectomy operation. Pathological examination was reported as multinodular GOITER. In postoperative period CPAP treatment couldn't continue, because patient was not compliant. In postoperative 8-th weeks, PSG was performed; AHI was 34,8/h. The patient's weight and BMI didn't change. Conclusion: In our case, despite absence of continued CPAP treatment after thyroidectomy, symptoms and PSG values improved partially. As a result of these findings, especially, compression of upper airway and deterioration of venous circulation of patients with large goiter may lead to an increase in OSAS symptoms. During patients with OSAS are treated with CPAP, goiter needs to be investigated

  6. Contribution of Large Genomic Rearrangements in Italian Lynch Syndrome Patients: Characterization of a Novel Alu-Mediated Deletion

    Directory of Open Access Journals (Sweden)

    Francesca Duraturo

    2013-01-01

    Full Text Available Lynch syndrome is associated with germ-line mutations in the DNA mismatch repair (MMR genes, mainly MLH1 and MSH2. Most of the mutations reported in these genes to date are point mutations, small deletions, and insertions. Large genomic rearrangements in the MMR genes predisposing to Lynch syndrome also occur, but the frequency varies depending on the population studied on average from 5 to 20%. The aim of this study was to examine the contribution of large rearrangements in the MLH1 and MSH2 genes in a well-characterised series of 63 unrelated Southern Italian Lynch syndrome patients who were negative for pathogenic point mutations in the MLH1, MSH2, and MSH6 genes. We identified a large novel deletion in the MSH2 gene, including exon 6 in one of the patients analysed (1.6% frequency. This deletion was confirmed and localised by long-range PCR. The breakpoints of this rearrangement were characterised by sequencing. Further analysis of the breakpoints revealed that this rearrangement was a product of Alu-mediated recombination. Our findings identified a novel Alu-mediated rearrangement within MSH2 gene and showed that large deletions or duplications in MLH1 and MSH2 genes are low-frequency mutational events in Southern Italian patients with an inherited predisposition to colon cancer.

  7. Gait parameters in patients with diabetes mellitus DOI:10.5007/1980-0037.2010v12n2p155

    Directory of Open Access Journals (Sweden)

    Cristina Elena Prado Teles Fregonesi

    2010-07-01

    Full Text Available Diabetes mellitus is a chronic disease that results in sensorimotor alterations. These changes affect balance and walking and predispose affected patients to falls. The aim of this review was to identify studies in the recent literature that assess gait parameters and aspects involved in walking. The MEDLINE, SciELO, LILACS and PEDro databases were searched using the following combination of keywords: diabetic neuropathies x gait; diabetes mellitus x gait, and diabetic foot x gait. After the application of selection criteria, 15 articles were retrieved, summarized, discussed, and are included in this review. Diabetic neuropathy was found to lead to deficits in step amplitude, gait velocity and gait cadence on flat surfaces, without sudden changes in direction or stops, and to balance and coordination deficits on inclined and uneven terrain. Diabetic neuropathies also increase plantar pressure rates and lead to difficulties in the terminal stance phase and pre-swing phase due to changes in triceps surae activation. Thus, the next initial contact occurs in an inadequate manner, with the forefoot and without absorption of shocks.

  8. Mannose-binding lectin-2 genotypes and recurrent late pregnancy losses

    DEFF Research Database (Denmark)

    Christiansen, Ole B; Nielsen, Henriette S; Lund, Marie

    2008-01-01

    maternal rather than fetal causes are likely to play a stronger role than in early recurrent miscarriage. METHODS: We identified 75 patients with at least two late losses of pregnancies with apparently normal fetuses between gestational week 14 and 30 among patients with recurrent pregnancy losses referred......BACKGROUND: Low levels of mannose-binding lectin (MBL) predispose to various infectious and inflammatory disorders and have been reported to be associated with recurrent early miscarriages. Recurrent late pregnancy losses (RLPL) in the second trimester is a rare but devastating syndrome where...... is strongly associated with idiopathic RLPL. This may point towards a role for excessive inflammatory disturbances as a cause of the syndrome....

  9. Age-dependent alterations in Ca2+ homeostasis: Role of TRPV5 and TRPV6

    NARCIS (Netherlands)

    M. van Abel (Monique); S. Huybers (Sylvie); J.G. Hoenderop (Joost); A.W.C.M. Kemp (Annemiete); J.P.T.M. van Leeuwen (Hans); R.J.M. Bindels (René)

    2006-01-01

    textabstractAging is associated with alterations in Ca2+ homeostasis, which predisposes elder people to hyperparathyroidism and osteoporosis. Intestinal Ca2+ absorption decreases with aging and, in particular, active transport of Ca2+ by the duodenum. In addition, there are age-related changes in

  10. Sodium-glucose cotransporter 2 (SGLT-2) inhibitors for patients with Type 2 diabetes

    DEFF Research Database (Denmark)

    Røder, Michael Einar; Storgaard, Heidi; Rungby, Jørgen

    2016-01-01

    The sodium-glucose cotransporter 2 inhibitor (SGLT-2i)-class is efficacious as monotherapy and as add-on therapy with an expected lowering of the glycated haemoglobin (HbA1c) concentration of approximately 7 mmol/mol. Side effects relate to the mode of action, genital infections are the main...... problem. Extremely rare cases of ketoacidosis are reported, mostly in patients with Type 1 diabetes. One SGLT-2i, empagliflozin, has been shown to reduce cardiovascular mortality and progression of kidney disease in patients with Type 2 diabetes and cardiovascular disease. Outcome trials for other SGLT-2i...... are pending. SGLT-2i are now in guidelines as a possible second-line therapy or in case of metformin intolerance....

  11. Relationship between pain and motor and non-motor symptoms in Parkinson's disease.

    Science.gov (United States)

    Defazio, G; Antonini, A; Tinazzi, M; Gigante, A F; Pietracupa, S; Pellicciari, R; Bloise, M; Bacchin, R; Marcante, A; Fabbrini, G; Berardelli, A

    2017-07-01

    Although female gender, depressive symptoms and medical conditions predisposing to pain are more common in patients with Parkinson's disease (PD) with pain, no study has yet explored the relationship between pain and other non-motor symptoms (NMS). A total of 321 consecutive patients with PD [190 men/131 women aged 68.3 (SD 9.2) years] attending four Italian movement disorder clinics were studied. Demographic/clinical data were obtained by a standardized interview and the NMS scale. The association of pain with motor and NMS was assessed by multivariable logistic regression models. At the time of the study, 180 patients with PD (56%) reported chronic pain that, in most cases, was described as being muscular or arthralgic pain. Pain preceded the onset of motor signs in 36/180 patients. In the main-effect model, factors independently associated with pain were female sex [odds ratio (OR), 2.1; P = 0.01], medical conditions predisposing to pain (OR, 2.9; P motor complications (OR, 4.7; P = 0.04) and NMS belonging to the sleep/fatigue (OR, 1.6; P = 0.04) and mood/cognition (OR, 1.6; P = 0.03) domains. Most explanatory variables in the multivariable analysis were similarly distributed in patients in whom pain may have been related to PD or to a cause other than PD. We confirm that pain in PD is more frequent in women and in subjects with medical conditions predisposing to painful symptoms. Moreover, this strengthens the association between pain and motor severity measures and NMS domains, particularly sleep and mood disturbances. © 2017 EAN.

  12. Defective production of interleukin 2 in patients with Chagas' disease: purified IL-2 augments in vitro response in patients with chagasic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Luis Briceno

    1996-10-01

    Full Text Available The production of interleukin 2 (IL-2 by peripheral blood mononuclear cells, from patients with different clinical forms of Chagas disease and healthy controls, was evaluated after stimulation with Trypanosoma cruzi antigen, PPD and PHA. PHA induced higher production of IL-2 in infected patients than healthy controls. No diferences were found between infected groups. With PPD the trend was similar, the only difference was that asymptomatic infected patients (INF showed higher levels of IL-2 production than patients with cardiomyopathy (CDM. With T. cruzi antigen, most patients showed little or no IL-2 production at 24 hr, a peak at 48 hr and an abrupt fall at 72 hr. A similar pattern of IL- 2 production was observed in INF and CDM. To evaluate the physiologic relevance of the deficit in IL-2 production, we studied the effect of non-mitogenic concentratios of IL-2 in the proliferative response to specific antigens. The addition of IL-2 only enhanced the proliferative response of CDM patients. These observations suggest that patients suffering Chagas' disease, particularly CDM, have a significant reduction in the capacity to produce IL-2. These findings could be of importance in the pathogenesis of Chagas' disease.

  13. CUTANEOUS MYXOID CYST ON THE SCLEROTIC FINGER IN A PATIENT WITH DIFFUSE SYSTEMIC SCLEROSIS

    Directory of Open Access Journals (Sweden)

    Taeko Nakamura-Wakatsuki

    2013-10-01

    Full Text Available Skin tumors occurring on the scleroderma fingers are rarely seen. Swollen fingers are hallmarks of systemic sclerosis, and mucin deposition in the lesional skin is a constant feature in systemic sclerosis. Here we describe a case of cutaneous myxoid cyst on the flexor aspect of the sclerotic fingers in a patient with severe diffuse cutaneous systemic sclerosis. Cutaneous myxoid cyst is a relatively common benign tumor; however, cases of cutaneous myxoid cysts developing on the scleroderma fingers have not been reported to date. Mucin deposition in the sclerotic skin may be a predisposing factor in the induction of myxoid cyst on the scleroderma finger in our patient.

  14. Hospital costs associated with surgical site infections in general and vascular surgery patients.

    Science.gov (United States)

    Boltz, Melissa M; Hollenbeak, Christopher S; Julian, Kathleen G; Ortenzi, Gail; Dillon, Peter W

    2011-11-01

    Although much has been written about excess cost and duration of stay (DOS) associated with surgical site infections (SSIs) after cardiothoracic surgery, less has been reported after vascular and general surgery. We used data from the National Surgical Quality Improvement Program (NSQIP) to estimate the total cost and DOS associated with SSIs in patients undergoing general and vascular surgery. Using standard NSQIP practices, data were collected on patients undergoing general and vascular surgery at a single academic center between 2007 and 2009 and were merged with fully loaded operating costs obtained from the hospital accounting database. Logistic regression was used to determine which patient and preoperative variables influenced the occurrence of SSIs. After adjusting for patient characteristics, costs and DOS were fit to linear regression models to determine the effect of SSIs. Of the 2,250 general and vascular surgery patients sampled, SSIs were observed in 186 inpatients. Predisposing factors of SSIs were male sex, insulin-dependent diabetes, steroid use, wound classification, and operative time (P surgery. Although the excess costs and DOS associated with SSIs after general and vascular surgery are somewhat less, they still represent substantial financial and opportunity costs to hospitals and suggest, along with the implications for patient care, a continuing need for cost-effective quality improvement and programs of infection prevention. Copyright © 2011 Mosby, Inc. All rights reserved.

  15. A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one

    DEFF Research Database (Denmark)

    Kantelinen, Jukka; Hansen, Thomas V O; Kansikas, Minttu

    2011-01-01

    Inherited pathogenic mutations in the mismatch repair (MMR) genes, MSH2, MLH1, MSH6, and PMS2 predispose to Lynch syndrome (LS). However, the finding of a variant or variants of uncertain significance (VUS) in affected family members complicates the risk assessment. Here, we describe a putative LS...... and the tumor pathological data suggested that the missense variation in MSH2, the more common susceptibility gene in LS, would be the predisposing alteration. However, MSH2 VUS was surprisingly found to be MMR proficient in an in vitro MMR assay and a tolerant alteration in silico. By supplying evidence...... identified VUS before predictive gene testing and genetic counseling are offered to a family....

  16. Low range of ankle dorsiflexion predisposes for patellar tendinopathy in junior elite basketball players: a 1-year prospective study.

    Science.gov (United States)

    Backman, Ludvig J; Danielson, Patrik

    2011-12-01

    Patellar tendinopathy (PT) is one of the most common reasons for sport-induced pain of the knee. Low ankle dorsiflexion range might predispose for PT because of load-bearing compensation in the patellar tendon. The purpose of this 1-year prospective study was to analyze if a low ankle dorsiflexion range increases the risk of developing PT for basketball players. Cohort study (prognosis); Level of evidence, 2. Ninety junior elite basketball players were examined for different characteristics and potential risk factors for PT, including ankle dorsiflexion range in the dominant and nondominant leg. Data were collected over a 1-year period and follow-up, including reexamination, was made at the end of the year. Seventy-five players met the inclusion criteria. At the follow-up, 12 players (16.0%) had developed unilateral PT. These players were found to have had a significantly lower mean ankle dorsiflexion range at baseline than the healthy players, with a mean difference of -4.7° (P = .038) for the dominant limb and -5.1° (P = .024) for the nondominant limb. Complementary statistical analysis showed that players with dorsiflexion range less than 36.5° had a risk of 18.5% to 29.4% of developing PT within a year, as compared with 1.8% to 2.1% for players with dorsiflexion range greater than 36.5°. Limbs with a history of 2 or more ankle sprains had a slightly less mean ankle dorsiflexion range compared to those with 0 or 1 sprain (mean difference, -1.5° to -2.5°), although this was only statistically significant for nondominant legs. This study clearly shows that low ankle dorsiflexion range is a risk factor for developing PT in basketball players. In the studied material, an ankle dorsiflexion range of 36.5° was found to be the most appropriate cutoff point for prognostic screening. This might be useful information in identifying at-risk individuals in basketball teams and enabling preventive actions. A history of ankle sprains might contribute to reduced ankle

  17. Do pregnancy, postpartum period and lactation predispose to recurrent toxoplasmic retinochoroiditis?

    Science.gov (United States)

    Brydak-Godowska, Joanna; Borkowski, Piotr Karol; Rabczenko, Daniel; Moneta-Wielgoś, Joanna; Kęcik, Dariusz

    2015-02-23

    The aim of the study was a statistical analysis of the possible effects of pregnancy, postpartum period, and lactation on increased risk for reactivation of toxoplasmic retinochoroiditis. A retrospective study was undertaken of the clinical records of 661 patients referred with the diagnosis of acute toxoplasmic retinochoroiditis to the Department of Zoonoses and Tropical Diseases, Medical University of Warsaw and to the Department of Ophthalmology, Medical University of Warsaw in the years 1994-2014. This group of inpatients consisted of 213 women of child-bearing age (18 to 40 years). Reactivation of toxoplasmic retinochoroiditis was observed in 24 women aged 15 to 39 years who were pregnant, in the postpartum period, or lactating. To compare the rate of the relapses in pregnant/lactating patients vs. non-pregnant/non-lactating patients, the Fisher exact test was used. Calculations were performed with WinPepi software (Abramson JH (2004) WINPEPI (PEPI-for-Windows) for epidemiologists. Epidemiologic Perspectives & Innovations, 2005, 1: 6). A total of 28 reactivations of toxoplasmic retinochoroiditis were observed (16 episodes in pregnancy, 4 in the postpartum period, and 8 during lactation) in 24 women aged 15 to 39 years. In 3 women, multiple episodes were reported (in early pregnancy and the postpartum period in 2 women, and during 2 pregnancies and lactation in 1 woman). Statistical analysis showed that the risk of an episode of toxoplasmic retinochoroiditis is 7.4-fold higher in pregnancy compared to the non-pregnant/non-lactating women (p<0.0001). Women of childbearing age with toxoplasma ocular lesions should be informed by their doctors about possible active recurrences during pregnancy and should be followed carefully by an ophthalmologist when pregnant.

  18. Unexpected Multiple Organ Infarctions in a Poisoned Patient

    Directory of Open Access Journals (Sweden)

    Sung-Wook Park

    2015-08-01

    Full Text Available Predisposing factors for venous thrombosis can be identified in the majority of patients with established venous thromboembolism (VTE. However, an obvious precipitant may not be identified during the initial evaluation of such patients. In the present case, a 47-year-old female presented to the emergency department of our hospital after ingesting multiple drugs. She had no VTE-related risk factors or previous episodes, nor any family history of VTE. After admission to the intensive care unit sudden hypoxemia developed, and during the evaluation cerebral, renal, and splenic infarctions with pulmonary embolisms were diagnosed. However, the sources of the emboli could not be identified by transthoracic echocardiography or computed tomography angiography. Protein C deficiency was identified several days later. We recommend that hypercoagulable states be taken into consideration, especially when unexplained thromboembolic events develop in multiple or unusual venous sites.

  19. Erythema multiforme and Stevens-Johnson syndrome in patients receiving cranial irradiation and phenytoin

    International Nuclear Information System (INIS)

    Delattre, J.Y.; Safai, B.; Posner, J.B.

    1988-01-01

    In 15 months we encountered eight patients with intracranial tumors who developed erythema multiforme (EM) or erythema multiforme bullosa (Stevens-Johnson syndrome). All occurred shortly after use of phenytoin (DPH) and brain radiation therapy (WBRT). The clinical picture differed from the classic form of EM in that the erythema began on the scalp and spread to the extremities, progressing in three cases to extensive bullous formation. There were no cases of EM among patients who received either DPH or radiotherapy alone. The combination of DPH, WBRT, and tapering of steroids seems to predispose to EM. The pathogenesis of the disorder is probably immunologic. In the absence of seizures, anticonvulsants should not be given routinely to patients with brain tumors. When anticonvulsants are necessary in patients scheduled for WBRT, DPH may not be the drug of choice

  20. Mannose-binding lectin and Ficolin-2 gene polymorphisms predispose to cytomegalovirus (re)infection after orthotopic liver transplantation

    NARCIS (Netherlands)

    de Rooij, Bert-Jan F.; van der Beek, Martha T.; van Hoek, Bart; Vossen, Ann C. T. M.; ten Hove, W. Rogier; Roos, Anja; Schaapherder, Alexander F.; Porte, Robert J.; van der Reijden, Johan J.; Coenraad, Minneke J.; Hommes, Daniel W.; Verspaget, Hein W.

    2011-01-01

    Background & Aims: The lectin pathway of complement activation is a crucial effector cascade of the innate immune response to pathogens. Cytomegalovirus (CMV) infection occurs frequently in immunocompromised patients after orthotopic liver transplantation (OLT). Single-nucleotide polymorphisms

  1. TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient

    International Nuclear Information System (INIS)

    Giacomazzi, Juliana; Hainaut, Pierre; Ashton-Prolla, Patricia; Selistre, Simone; Duarte, Juliana; Ribeiro, Jorge Pinto; Vieira, Paulo JC; Souza Macedo, Gabriel de; Rossi, Cristina; Czepielewski, Mauro; Netto, Cristina Brinkmann Oliveira

    2013-01-01

    Adrenocortical carcinomas (ACCs) are among the most common childhood cancers occurring in infants affected with the Li-Fraumeni and Li- Fraumeni-like (LFS/LFL) syndromes, which are caused by dominant germline mutations in the TP53 gene. In Brazil, a particular mutation, occurring in the tetramerisation domain of the gene, p.R337H, is exceedingly common due to a founder effect and is strongly associated with ACC. In this report, we describe the phenotype and long-term clinical follow-up of a female child diagnosed with ACC and homozygous for the TP53 p.R337H founder mutation. At age 11 months, the patient was diagnosed with a virilising anaplastic adrenal cortical tumour, which was completely excised without disturbing the adrenal capsule. Family history was consistent with an LFL tumour pattern, and genotyping identified the TP53 p.R337H mutation in both alleles in genomic DNA from lymphocytes and fibroblasts. Haplotype analysis confirmed the occurrence of the mutation in the same founder haplotype previously described in other Brazilian patients. No other germline or somatic TP53 mutations or rearrangements were identified. At age 9 years, the child was asymptomatic and had no evidence of endocrine derangements. Full body and brain magnetic resonance imaging (MRI) failed to detect any suspicious proliferative lesions, and cardiopulmonary exercise testing results were within the normal reference for the child’s age, ruling out a major exercise capacity deficiency. This is the first clinical and aerobic functional capacity documentation of a patient who carries two mutant TP53 alleles and no wild-type allele. Our results support the hypothesis that TP53 p.R337H, the most common TP53 mutation ever described in any population, is a conditional mutant. Furthermore, our observations over a long period of clinical follow-up suggest that TP53 p.R337H homozygotes do not have a more severe disease phenotype than do heterozygote carriers of the same mutation. Patients with

  2. Reversal of diet-induced obesity and insulin resistance by inducible genetic ablation of GRK2

    NARCIS (Netherlands)

    Vila-Bedmar, Rocio; Cruces-Sande, Marta; Lucas, Elisa; Willemen, Hanneke L D M; Heijnen, Cobi J; Kavelaars, Annemieke; Mayor, Federico; Murga, Cristina

    2015-01-01

    Insulin resistance is a common feature of obesity and predisposes individuals to various prevalent pathological conditions. G protein (heterotrimeric guanine nucleotide-binding protein)-coupled receptor kinase 2 (GRK2) integrates several signal transduction pathways and is emerging as a

  3. Invasive fungal rhinosinusitis in adult patients: Our experience in diagnosis and management.

    Science.gov (United States)

    Pagella, Fabio; De Bernardi, Francesca; Dalla Gasperina, Daniela; Pusateri, Alessandro; Matti, Elina; Avato, Irene; Cavanna, Caterina; Zappasodi, Patrizia; Bignami, Maurizio; Bernardini, Elena; Grossi, Paolo Antonio; Castelnuovo, Paolo

    2016-04-01

    This paper describes our experience in the management of acute and chronic invasive fungal rhinosinusitis (IFRS) in adults. Medical files of all patients aged >18 years treated in our institutions for IFRS from 2002 to 2013 were retrospectively reviewed. A total of 18 cases (10 acute and 8 chronic) were recorded. In acute form, haematological malignancies represented the principal comorbidity (100%), while in chronic form this was diabetes mellitus (87.5%). All patients received systemic antifungal agents. Endoscopic sinus surgery was performed in 16/18 patients (88.9%). Among patients with an acute IFRS, 4/10 died of fungal infection (40%), on the other side 2/8 patients with chronic IFRS died of the evolution of the mycosis (25%). Acute and chronic IFRS are different entities: in acute form, prognosis is poor, so therapy should be promptly performed, although host immune status and evolution of the haematological disease are key factors for the outcome. In chronic form, a wide surgical excision of the disease is recommended in order to obtain a complete removal of fungal infection. In both forms, early clinical findings are non-specific and ambiguous, so diagnosis depends on a high index of suspicion, taking into account predisposing factors. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  4. OPTIONS FOR USE OF APPROPRIATE ANTICOAGULANT THERAPY IN PATIENTS WITH THERMAL INJURY WITH A HIGH RISK OF THROMBOEMBOLIC COMPLICATIONS DEVELOPMENT ASSOCIATED WITH RECURRENT INTESTINAL BLEEDING

    Directory of Open Access Journals (Sweden)

    V. S. Borisov

    2015-01-01

    Full Text Available ABSTRACT. Patients with major thermal injury require anticoagulant therapy during almost the whole period of the burn disease, forcing the physician to balance constantly between the risk of possible bleeding associated with surgical treatment and the risk of thrombosis development in patients demonstrating a number of factors predisposing to the development of VTС. We report a clinical case of appropriate anticoagulant therapy using the new oral anticoagulants in a patient with a high risk of VTС development and recurrent bleeding from the tumor of the ascending colon. 

  5. Incidence, risk factors and mortality of tuberculosis in Danish HIV patients 1995-2007

    Directory of Open Access Journals (Sweden)

    Andersen Aase B

    2011-05-01

    Full Text Available Abstract Background Human Immunodeficiency Virus (HIV infection predisposes to tuberculosis (TB. We described incidence, risk factors and prognosis of TB in HIV-1 infected patients during pre (1995-1996, early (1997-1999, and late Highly Active Antiretroviral Therapy (HAART (2000-2007 periods. Methods We included patients from a population-based, multicenter, nationwide cohort. We calculated incidence rates (IRs and mortality rates (MRs. Cox's regression analysis was used to estimate risk factors for TB infection with HAART initiation included as time updated variable. Kaplan-Meier was used to estimate mortality after TB. Results Among 2,668 patients identified, 120 patients developed TB during the follow-up period. The overall IR was 8.2 cases of TB/1,000 person-years of follow-up (PYR. IRs decreased during the pre-, early and late-HAART periods (37.1/1000 PYR, 12.9/1000 PYR and 6.5/1000 PYR respectively. African and Asian origin, low CD4 cell count and heterosexual and injection drug user route of HIV transmission were risk factors for TB and start of HAART reduced the risk substantially. The overall MR in TB patients was 34.4 deaths per 1,000 PYR (95% Confidence Interval: 22.0-54.0 and was highest in the first two years after the diagnosis of TB. Conclusions Incidence of TB still associated with conventional risk factors as country of birth, low CD4 count and route of HIV infection while HAART reduces the risk substantially. The mortality in this patient population is high in the first two years after TB diagnosis.

  6. Musculoskeletal pain in patients with myotonic dystrophy type 2.

    Science.gov (United States)

    George, Annette; Schneider-Gold, Christiane; Zier, Sandra; Reiners, Karlheinz; Sommer, Claudia

    2004-12-01

    Myotonic dystrophy type 2/proximal myotonic myopathy (DM2/PROMM) is an autosomal dominant multisystem disorder. Musculoskeletal pain is one of its frequent symptoms but also occurs in other chronic noninflammatory muscle disorders (OMD). To characterize the phenotype of DM2/PROMM-associated musculoskeletal pain and to test whether it shows features distinct from OMD. Outpatient clinic for patients with neuromuscular disorders, university hospital. Twenty-four patients with DM2/PROMM (12 women and 12 men; median age, 57 years) and 24 age- and sex-matched patients with OMD consecutively recruited during a 3-year period were examined for musculoskeletal pain. Standardized pain assessment; McGill Pain Questionnaire; depression score; and quantification of pain thresholds to blunt pressure on limb muscles with analgometer. Unlike patients with OMD who have musculoskeletal pain, patients with DM2/PROMM distinguished a wide spectrum of coexisting pain types. The major pain type in patients with DM2/PROMM was exercise-related, temperature-modulated, and palpation-induced, whereas, cramps were rare. In 8 of the patients with DM2/PROMM and in 3 of the patients with OMD, musculoskeletal pain was the most disabling symptom. Besides many similarities, DM2/PROMM-associated musculoskeletal pain shows features distinct from OMD.

  7. Evaluation of the function of the vestibular system in patients with migraine.

    Science.gov (United States)

    Rzeski, Maciej; Stepień, Adam; Kaczorowski, Zbigniew

    2008-01-01

    Migraine is a common disorder with 1-year prevalence of 17.2% in women and 6% in men. Otoneurological symptoms such as phonophobia, tinnitus, vertigo, and dizziness are quite common in migraine. It is estimated that vertigo and dizziness are associated with migraine in 10% of all dizzy patients. The aim of the study was to evaluate the function of the vestibular system using electronystagmography (ENG) and videonystagmography (VNG) in patients with migraine compared to healthy controls. Sixty-two patients (46 women and 16 men) aged 20-35 years (mean age: 28.4 years) with migraine were qualified to the study. All other illnesses that can cause dysfunction of the vestibular system were excluded. The control group consisted of 31 healthy volunteers fulfilling the same demographic criteria as the migraine group (mean age: 29.2 years). Vertigo or dizziness was reported by 41 patients with migraine (66.1%). In ENG/VNG examination changes suggesting impairment of the peripheral or central part of the vestibular system were found in 34 patients (54.8%). In the control group, any abnormalities in ENG/VNG examination were present in 22.6% of individuals (p=0.0031). No statistical significance was found in the frequency of any ENG/VNG abnormalities in subgroups of patients with migraine with aura and migraine without aura. Factors predisposing to dysfunction of the vestibular system in our group of migraineurs were the frequency and duration of the migraine. Vertigo and dizziness are frequent co-existing symptoms in patients with migraine. ENG/VNG abnormali-ties are significantly more frequent in migraineurs than in healthy controls.

  8. High minimum inhibitory concentration of imipenem as a predictor of fatal outcome in patients with carbapenem non-susceptible Klebsiella pneumoniae.

    Science.gov (United States)

    Wu, Ping-Feng; Chuang, Chien; Su, Chin-Fang; Lin, Yi-Tsung; Chan, Yu-Jiun; Wang, Fu-Der; Chuang, Yin-Ching; Siu, L Kristopher; Fung, Chang-Phone

    2016-09-02

    Carbapenem resistance in Klebsiella pneumoniae is important because of its increasing prevalence and limited therapeutic options. To investigate the clinical and microbiological characteristics of patients infected or colonized with carbapenem non-susceptible K. pneumoniae (CnsKP) in Taiwan, we conducted a retrospective study at Taipei Veterans General Hospital from January 2012 to November 2013. Carbapenem non-susceptibility was defined as a minimum inhibitory concentration (MIC) of ≥2 mg/L for imipenem or meropenem. A total of 105 cases with CnsKP were identified: 49 patients with infection and 56 patients with colonization. Thirty-one isolates had genes that encoded carbapenemases (29.5%), including K. pneumoniae carbapenemase (KPC)-2 (n = 27), KPC-3 (n = 1), VIM-1 (n = 1) and IMP-8 (n = 2). The in-hospital mortality among patients with CnsKP was 43.8%. A MIC for imipenem ≥16 μg/mL, nasogastric intubation and Acute Physiology and Chronic Health Evaluation II score were independent risk factors for in-hospital mortality for all patients with CnsKP. A MIC for imipenem ≥16 μg/mL was also an independent risk factor for 14-day mortality in patients with CnsKP. In conclusion, a positive culture for CnsKP was associated with high in-hospital mortality. A high imipenem MIC of CnsKP can predispose a patient to a poor prognosis.

  9. Prospective implementation of a software application for pre-disposal L/ILW waste management activities in Romania

    International Nuclear Information System (INIS)

    Fako, Raluca; Sociu, Florin; Stan, Camelia; Georgescu, Roxana; Barariu, Gheorghe

    2013-01-01

    Romania is actively engaged to update the Medium and Long Term National Strategy for Safe Management of Radioactive Waste and to approve the Road Map for Geological Repository Development. Considering relevant documents to be further updated, about 122,000 m 3 SL-LILW are to be disposed in a near surface facility that will have room, also, for quantities of VLLW. Planned date for commissioning is under revision. Taking into account that in this moment there are initiated several actions for the improvement of the technical capability for LILW treatment and conditioning, several steps for the possible use of SAFRAN software were considered. In view of specific data for Romanian radioactive waste inventory, authors are trying to highlight the expected limitations and unknown data related with the implementation of SAFRAN software for the foreseen pre-disposal waste management activities. There are challenges that have to be faced in the near future related with clear definition of the properties of each room, area and waste management activity. This work has the aim to address several LILW management issues in accordance with national and international regulatory framework for the assurance of nuclear safety. Also, authors intend to develop their institutional capability for the safety demonstration of the existent and future radioactive waste management facilities and activities. (authors)

  10. Cutaneous Serratia marcescens infections in Korea: A retrospective analysis of 13 patients.

    Science.gov (United States)

    Seo, Jimyung; Shin, Dongyun; Oh, Sang Ho; Lee, Ju Hee; Chung, Kee Yang; Lee, Min-Geol; Kim, Dae Suk

    2016-02-01

    Serratia marcescens is a Gram-negative bacillus belonging to the Enterobacteriaceae family. Because of increasing reports of antimicrobial resistance, this bacterium has received considerable attention and has emerged as an important pathogen. In order to reveal clinical and microbiological characteristics of S. marcescens cutaneous infection and to suggest appropriate antibiotic treatment, we retrospectively analyzed 17 strains isolated from wound swabs of Korean patients between November 2005 and March 2014. A total of 13 patients (five men and eight women) were included in our study, with a mean age of 46.3 years (range, 21-82). Based on medical history, seven patients were classified as immunocompromised. Prior predisposing factors for infections were noted in 12 patients, including pre-existing leg ulcers or dermatitis (5/13), preceding cancer surgeries (2/13), plastic surgeries and filler injection (2/13), traumas (2/13) and medical procedures following cutaneous abscess (1/13). Cutaneous infections showed various clinical presentations, including spontaneous dermal abscess, fingernail change, painful nodules and papular erosions. We found that third- and fourth-generation cephalosporins, gentamicin, levofloxacin and meropenem appeared active against all 17 strains in vitro. Clinically, all patients treated with empirical first-generation cephalosporin showed treatment resistance, and oral quinolone monotherapy was the most preferred antibiotic regimen without treatment failure, with an average treatment duration of 25 days (range, 14-42). This study demonstrates the various clinical presentations and treatment responses for cutaneous S. marcescens infection. Moreover, we suggest that initial antibiotic coverage should be broad enough to account for multidrug resistance in this rare pathogen. © 2015 Japanese Dermatological Association.

  11. Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

    Science.gov (United States)

    Baas, Annette F; Gabbett, Michael; Rimac, Milan; Kansikas, Minttu; Raphael, Martine; Nievelstein, Rutger Aj; Nicholls, Wayne; Offerhaus, Johan; Bodmer, Danielle; Wernstedt, Annekatrin; Krabichler, Birgit; Strasser, Ulrich; Nyström, Minna; Zschocke, Johannes; Robertson, Stephen P; van Haelst, Mieke M; Wimmer, Katharina

    2013-01-01

    Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood cancer predisposition caused by biallelic germline mutations in one of the four mismatch repair (MMR)-genes, MLH1, MSH2, MSH6 or PMS2. Owing to a wide tumor spectrum, the lack of specific clinical features and the overlap with other cancer predisposing syndromes, diagnosis of CMMR-D is often delayed in pediatric cancer patients. Here, we report of three new CMMR-D patients all of whom developed more than one malignancy. The common finding in these three patients is agenesis of the corpus callosum (ACC). Gray matter heterotopia is present in two patients. One of the 57 previously reported CMMR-D patients with brain tumors (therefore all likely had cerebral imaging) also had ACC. With the present report the prevalence of cerebral malformations is at least 4/60 (6.6%). This number is well above the population birth prevalence of 0.09-0.36 live births with these cerebral malformations, suggesting that ACC and heterotopia are features of CMMR-D. Therefore, the presence of cerebral malformations in pediatric cancer patients should alert to the possible diagnosis of CMMR-D. ACC and gray matter heterotopia are the first congenital malformations described to occur at higher frequency in CMMR-D patients than in the general population. Further systematic evaluations of CMMR-D patients are needed to identify possible other malformations associated with this syndrome.

  12. Professional challenges in cancer genetic testing: who is the patient?

    Science.gov (United States)

    Chan-Smutko, Gayun; Patel, Devanshi; Shannon, Kristen M; Ryan, Paula D

    2008-03-01

    In the genetic counseling setting, the health care provider can be challenged by opposing duties to members of the same family: protecting the privacy of the patient identified with a gene mutation and the ethical obligation to warn at-risk relatives. In a situation of nondisclosure between members of a family with a known disease-predisposing mutation, this type of dilemma can present in acute form for the provider who cares for different members of the family. This can hinder effective medical decision making. To minimize this effect, we recommend detailed pretest genetic counseling steps to empower the patient to communicate with their at-risk relatives their intent to pursue testing and willingness to share information. In addition, post-test counseling should reiterate the implications of a positive result for at-risk relatives and conclude with a written summary that patients can share with their family.

  13. The effect of zonisamide on antipsychotic-associated weight gain in patients with schizophrenia: a randomized, double-blind, placebo-controlled clinical trial.

    Science.gov (United States)

    Ghanizadeh, Ahmad; Nikseresht, Mohammad Saeed; Sahraian, Ali

    2013-06-01

    Many patients with schizophrenia suffer from metabolic symptoms and weight gain in which predispose them to obesity, diabetes, and cardiovascular problems. This trial examines the efficacy and safety of zonisamide on weight and body mass index in patients with schizophrenia being administered with atypical antipsychotics. In this 10-week, double blind randomized placebo controlled clinical trial, forty one patients with schizophrenia diagnosed according to DSM-IV-TR criteria who were taking a stable dose of atypical antipsychotic are allocated into one of the two groups of zonisamide or placebo group. Weight, body mass index, waist circumference, and adverse effects were assessed. The two groups were not statistically different regarding baseline characteristics on age, gender, education, diagnosis, weight, body mass index, daily cigarette smoking, and the duration of illness. After 10 weeks, the patients in the placebo group had significantly gained weight, while the patients in the zonisamide group lost weight (mean=1.9, SD=2.2 versus mean=-1.1 kg, SD=1.4). The changes of body mass index in the two groups were significantly different. Body mass index decreased in the zonisamide group (mean=-0.3, SD=0.4) while it increased in the placebo group (mean=2.2, SD=6.9). There was a significance difference between the two groups regarding waist circumference at the end of trial (Pweight loss of patients with schizophrenia being treated with atypical antipsychotics. Copyright © 2013 Elsevier B.V. All rights reserved.

  14. Factors predisposing to coma and delirium: fentanyl and midazolam exposure; CYP3A5, ABCB1, and ABCG2</