Case Subjects Research Articles

Peripherally inserted central venous catheter placed and maintained by a dedicated nursing team for the administration of antimicrobial therapy vs. another type of catheter: a retrospective case–control study

IntroductionData concerning the use of peripherally inserted central catheters (PICC) for the administration of intravenous (IV) antimicrobials in the acute care setting is scarce. MethodsWe performed a single-center retrospective case–control study (1:1). Case subjects were defined as patients who received IV antimicrobial treatment through a PICC line placed and maintained by specifically trained nurses (PICC group). Control subjects were defined as patients who received antimicrobial therapy by a peripheral or a central venous catheter (CVC) (control group). Control subjects were matched by type of antimicrobial, causative microorganism of the infection that was being treated and duration of treatment. An event leading to undesired catheter removal (ELUCR) was defined as any circumstance which lead to the removal of the indwelling catheter other than the completion of the scheduled course of antimicrobial therapy. ResultsThe study included 50 patients in each group. The total follow-up time was 1376 catheter-days for the PICC group and 1362 catheter-days for the control group. We observed a significantly lower incidence of ELUCR in the PICC group (0.2 versus 7.7 events per 100 catheter-days; P<0.001). When the incidence of ELUCR was analyzed according to the duration of indwelling catheterisation for each type of catheter (divided into one-week intervals), differences between both groups were also significant (P-values≤0.001 for the first three weeks of treatment). During the second week of IV treatment, only one patient in the PICC group (2.1%) developed an ELUCR compared to 19 (38.8%) in the control group (P<0.001). ConclusionsA PICC placed and maintained by a dedicated nursing team is an excellent alternative to peripheral venous catheters or CVCs for administrating antimicrobial therapy for both short and long periods of treatment.

The Idiot as Artist:The Fantasy Boats of James Henry Pullen

The Idiot as Artist:The Fantasy Boats of James Henry Pullen

ANALISIS FAKTOR RESIKO PAPARAN PESTISIDA PADA KEHAMILAN DENGAN KEJADIAN BERAT BADAN LAHIR RENDAH (BBLR) DI KOTA PADANGSIDIMPUAN TAHUN 2019

Low birth weight (LBW) is one of the main causes of infant mortality. The problem that arises is whether there is a relationship between risk factors for pesticide exposure during pregnancy and the incidence of LBW in agricultural areas. The purpose of this study was to determine the risk factors for pesticide exposure associated with LBW incidence. This research is a case control study. Subjects were divided into two groups: a case group of 25 farmers with a history of giving birth to LBW and a control group who were neighbors of case subjects without a history of giving birth to LBW, a total of 25 farmers. This research data collection using interviews and observations. Data analysis used univariate and bivariate analysis (chi square and fisher as alternatives). Research results: risk factors for exposure to pesticides that have been shown to be associated with the incidence of LBW in Padangsidimpuan, include: occupation of pregnant women related to pesticides (OR = 6,769) completeness of personal protective equipment (PPE) while doing activities in the fields (OR = 18,857) and storage pesticides (OR = 12,667). The recommended advice is to avoid work that is directly related to pesticides during pregnancy, if you have to participate in agricultural activities, pregnant women should use complete PPE.

Plasma Metabolome and Circulating Vitamins Stratified Onset Age of an Initial Islet Autoantibody and Progression to Type 1 Diabetes: The TEDDY Study.

Children's plasma metabolome, especially lipidome, reflects gene regulation and dietary exposures, heralding the development of islet autoantibodies (IA) and type 1 diabetes (T1D). The Environmental Determinants of Diabetes in the Young (TEDDY) study enrolled 8,676 newborns by screening of HLA-DR-DQ genotypes at six clinical centers in four countries, profiled metabolome, and measured concentrations of ascorbic acid, 25-hydroxyvitamin D [25(OH)D], and erythrocyte membrane fatty acids following birth until IA seroconversion under a nested case-control design. We grouped children having an initial autoantibody only against insulin (IAA-first) or GAD (GADA-first) by unsupervised clustering of temporal lipidome, identifying a subgroup of children having early onset of each initial autoantibody, i.e., IAA-first by 12 months and GADA-first by 21 months, consistent with population-wide early seroconversion age. Differential analysis showed that infants having reduced plasma ascorbic acid and cholesterol experienced IAA-first earlier, while early onset of GADA-first was preceded by reduced sphingomyelins at infancy. Plasma 25(OH)D prior to either autoantibody was lower in T1D progressors compared with nonprogressors, with simultaneous lower diglycerides, lysophosphatidylcholines, triglycerides, and alanine before GADA-first. Plasma ascorbic acid and 25(OH)D at infancy were lower in HLA-DR3/DR4 children among IA case subjects but not in matched control subjects, implying gene expression dysregulation of circulating vitamins as latent signals for IA or T1D progression.

Auditory Performance in Early Implanted Children with Cochleovestibular Malformation and Cochlear Nerve Deficiency.

This study aimed to report the auditory performance in children with cochleovestibular malformation (CVM)/cochlear nerve deficiency (CND) who were implanted early at the Universiti Kebangsaan Malaysia Medical Centre, using Categorical Auditory Performance (CAP)-II score and Speech Intelligibility Rating (SIR) scales, and to compare the outcome of their matched counterparts. A total of 14 children with CVM/CND with unilateral cochlear implant (CI) implanted before the age of 4 years old were matched and compared with 14 children with normal inner ear structures. Their improvement in auditory performance was evaluated twice using CAP-II score and SIR scales at 6-month intervals, with the baseline evaluation done at least 6 months after implantation. The average age of implantation was 31±8 and 33±7 months for the control group and the case (CVM/CND) group, respectively. Overall, there were no significant differences in outcome when comparing the entire cohort of case subjects and their matched control subjects in this study. However, the improvement in CAP-II scores and SIR scales among the case subjects in between the first and second evaluations was statistically significant (p=0.040 and p=0.034, respectively). With longer duration of CI usage, children with CVM/CND showed significant speech perception outcome evident by their SIR scales (p=0.011). Children with radiographically malformed inner ear structures who were implanted before the age of 4 years have comparable performance to their matched counterparts, evident by their similar improvement of CAP-II scores and SIR scales over time. Hence, this group of children benefited from cochlear implantation.

Validation study of HLA-B*13:01 as a biomarker of dapsone hypersensitivity syndrome in leprosy patients in Indonesia.

Leprosy is a stigmatizing, chronic infection which degenerates the nervous system and often leads to incapacitation. Multi-drug therapy which consists of dapsone, rifampicin and clofazimine has been effective to combat this disease. In Indonesia, especially in Papua Island, leprosy is still a problem. Furthermore, there had been higher reports of Dapsone Hypersensitivity Syndrome (DHS) which also challenges leprosy elimination in certain aspects. Globally, DHS has a prevalence rate of 1.4% and a fatality rate up to 13%. The aim of this study is to validate HLA-B*13:01, a previously discovered biomarker for DHS in the Chinese population, as a biomarker for DHS in the Papua population.This is a case-control study of 34 leprosy patients who presented themselves with DHS (case subjects) and 52 leprosy patients without DHS (control subjects). Patients were recruited from 2 provinces: Papua and West Papua. DNA was extracted from 3 ml blood specimens. HLA-B alleles were typed using the gold-standard sequence based typing method. Results were then analysed using logistic regression and risk assessment was carried out. The results of HLA-typing showed that HLA-B*13:01 was the most significant allele associated with DHS, with odds ratio = 233.64 and P-value = 7.11×10-9, confirming the strong association of HLA-B*13:01 to DHS in the Papua population. The sensitivity of this biomarker is 91.2% and specificity is 96.2%, with an area under the curve of 0.95. HLA-B*13:01 is validated as a biomarker for DHS in leprosy patients in Papua, Indonesia, and can potentially be a good predictor of DHS to help prevent this condition in the future.

Preterm Birth Is Associated With Depression From Childhood to Early Adulthood

There have been inconsistent findings on the associations among prematurity, poor fetal growth, and depression. We examined the associations among gestational age, poor fetal growth, and depression in individuals aged 5 to 25 years. We identified 37,682 case subjects based on International Classification of Diseases, Ninth Revision code 2961 and International Classification of Diseases, Tenth Revision codes F32.0-F32.9 and F33.0-F33.9 from the Care Register for Health Care, and 148,795 matched controls from the Finnish Central Population Register. Conditional logistic regression examined the associations between gestational age by each gestational week, poor fetal growth, and depression. The associations were adjusted for parental age and psychopathology, paternal immigrant status, maternal substance abuse, depression, number of previous births, marital status, socio-economic status, smoking during pregnancy, and the infant's birthplace. In the adjusted models, increased risk of depression was found in children born≤25 weeks (adjusted odds ratio [aOR] 1.89, 95% CI 1.08-3.31), at 26 weeks (aOR 2.62, 95% CI 1.49-4.61), at 27 weeks (aOR 1.93, 95% CI 1.05-3.53), and≥42 weeks (aOR 1.11, 95% CI 1.05-1.19). In girls, extremely preterm birth was associated with depression diagnosed at 5 to 12 years (aOR 2.70, 95% CI 1.83-3.98) and 13 to 18 years (aOR 2.97, 95% CI 1.84-4.78). In boys, postterm birth (≥42 weeks) was associated with depression diagnosed at 19 to 25 years (aOR 1.28, 95% CI 1.07-1.54). Poor fetal growth was associated with an increased risk of depression in full-term infants (aOR 1.06, 95% CI 1.03-1.10) and postterm infants (aOR 1.24, 95% CI 1.08-1.43). Preterm birth before 28 weeks of gestation appeared to play a role in the development of childhood depression. Smaller effects were also seen in postterm births, especially in boys.

Study on the Appearance and Fusion of Iliac Crust Epiphyseal Center among Natives of Ajmer Region

Introduction:- Scientific determination of age of an individual is required for the law enforcement agenciesin both civil and criminal matters.Aims and Objects:- Statistical study on the appearance and fusion of ossification centers of iliac crustamong natives of Ajmer region and comparative study between both sexes.Material and Method:- This prospective study has been conducted on 102 subject (48 males and 54females) of the Ajmer region in Rajasthan of known age group between 13-21 years in the Department ofForensic Medicine and Toxicology in J.L.N. Medical College and Associated Hospitals, Ajmer between1stApril 2019 to31stMarch 2020.Inclusion Criteria:- Cases whom parents are born at Ajmer region. Case subjects are also residing at Ajmersince birth, consented for studyExclusion Criteria1. They should not be with any physical disability,congenital,nutritional or endocrinal anomaly.2. Person should have accurate record of their birth date.Observation:-In Males appearance of iliac crest in present study was found at the age 15yrs age in all cases. Simultaneouslyfusion of iliac crest was found at the age of 19.3 yrs in 100% cases.Similarly In female’s appearance of iliac crest in present study was found at the age 14.2yrs age in 100%cases. Similarly fusion of iliac crest was found in majority of cases appeared at the age of 19 yrs in all cases.Conclusion:- iliac crest fusion is found earlier in females of Ajmer region

Effects of Statin Use on the Development and Progression of Nonalcoholic Fatty Liver Disease: A Nationwide Nested Case-Control Study.

The use of statins in nonalcoholic fatty liver disease (NAFLD) may reduce cardiovascular morbidity, although their effect on NAFLD itself is not well known. We aimed to investigate the role of statins on the development of de novo NAFLD and progression of significant liver fibrosis. This study included 11,593,409 subjects from the National Health Information Database of the Republic of Korea entered in 2010 and followed up until 2016. NAFLD was diagnosed by calculating fatty liver index (FLI), and significant liver fibrosis was evaluated using the BARD score. Controls were randomly selected at a ratio of 1:5 from individuals who were at risk of becoming the case subjects at the time of selection. Among 5,339,901 subjects that had a FLI < 30 and included in the non-NAFLD cohort, 164,856 subjects eventually had NAFLD developed. The use of statin was associated with a reduced risk of NAFLD development (adjusted odds ratio [AOR] 0.66; 95% confidence interval [CI] 0.65-0.67) and was independent of associated diabetes mellitus (DM) (with DM: AOR 0.44; 95% CI 0.41-0.46, without DM: AOR 0.71; 95% CI 0.69-0.72). From 712,262 subjects with a FLI > 60 and selected in the NAFLD cohort, 111,257 subjects showed a BARD score ≥ 2 and were defined as liver fibrosis cases. The use of statins reduced the risk of significant liver fibrosis (AOR 0.43; 95% CI 0.42-0.44), independent of DM (with DM: AOR 0.31; 95% CI 0.31-0.32, without DM: AOR 0.52; 95% CI 0.51-0.52). In this large population-based study, statin use decreased the risk of NAFLD occurrence and the risk of liver fibrosis once NAFLD developed.

Sex Differences in Rates of Change and Burden of Metabolic Risk Factors Among Adults Who Did and Did Not Go On to Develop Diabetes: Two Decades of Follow-up From the Tehran Lipid and Glucose Study.

We investigated the cumulative burden and linear rates of change of major metabolic risk factors (MRFs) among Iranian adults in whom type 2 diabetes did and did not develop. We included 7,163 participants (3,069 men) aged 20-70 years at baseline with at least three examinations during 1999-2018. Individual growth curve modeling was used for data analysis. Statistical interactions for sex by diabetes status were adjusted for age, family history of diabetes, smoking status, and physical activity level. Study sample included 743 (316 men) new case subjects with diabetes. In both men and women, compared with individuals in whom diabetes did not develop, individuals in whom diabetes developed had a higher burden of all MRFs and a greater rate of change in BMI, fasting plasma glucose (FPG), systolic blood pressure (SBP), and diastolic blood pressure; however, the differences in burden and rate of change between those who did and did not develop diabetes were greater in women than in men. During the transition to diabetes, women experienced more adverse change in BMI, FPG, triglyceride, and HDL cholesterol (HDL-C) (diabetes-sex interaction P values <0.05) and faster rates of change in BMI, FPG, HDL-C, and total cholesterol (interaction P values <0.01) and SBP (interaction P = 0.055) than men. The greater exposure of women to and burden of MRFs before onset of diabetes may have implications for implementing sex-specific strategies in order to prevent or delay diabetes complications.

The Olfactory Cleft Endoscopy Scale: a multi-institutional validation study in chronic rhinosinusitis.

Olfactory dysfunction (OD) associated with chronic rhinosinusitis (CRS) remains quite challenging. Instruments to precisely assess olfactory cleft anatomy and their association with olfaction are needed. The olfactory cleft endoscopy scale (OCES) was used to assess the olfactory cleft in healthy control subjects and a cohort of patients with CRS. Psychophysical and psychosocial olfactory function were assessed and correlations with OCES scores were measured. Control subjects and subjects with CRS with nasal polyps (CRSwNP) and CRS without nasal polyps (CRSsNP) were enrol- led. OCES correlated with both psychophysical and psychosocial olfaction, as measured by threshold, discrimination and identi- fication (TDI) scores and Questionnaire on Olfactory Disorders (QOD-NS) scores for all case and control subjects combined. OCES improved in both CRS groups postoperatively with the highest correlation seen in postoperative olfaction in CRSwNP patients. CRS patients who achieve near perfect OCES and sinus endoscopy scores after surgery have olfactory metrics that are indistin- guishable from controls regardless of polyp status. The OCES is a valid olfactory-specific measure that demonstrates strong validity and provides complimentary infor- mation to traditional sinus endoscopy to aid in our understanding of OD associated with CRS.

Genome-Wide Association Study of Suicide Death and Polygenic Prediction of Clinical Antecedents.

Death by suicide is a highly preventable yet growing worldwide health crisis. To date, there has been a lack of adequately powered genomic studies of suicide, with no sizable suicide death cohorts available for analysis. To address this limitation, the authors conducted the first comprehensive genomic analysis of suicide death using previously unpublished genotype data from a large population-ascertained cohort. The analysis sample comprised 3,413 population-ascertained case subjects of European ancestry and 14,810 ancestrally matched control subjects. Analytical methods included principal component analysis for ancestral matching and adjusting for population stratification, linear mixed model genome-wide association testing (conditional on genetic-relatedness matrix), gene and gene set-enrichment testing, and polygenic score analyses, as well as single-nucleotide polymorphism (SNP) heritability and genetic correlation estimation using linkage disequilibrium score regression. Genome-wide association analysis identified two genome-wide significant loci (involving six SNPs: rs34399104, rs35518298, rs34053895, rs66828456, rs35502061, and rs35256367). Gene-based analyses implicated 22 genes on chromosomes 13, 15, 16, 17, and 19 (q<0.05). Suicide death heritability was estimated at an h2SNP value of 0.25 (SE=0.04) and a value of 0.16 (SE=0.02) when converted to a liability scale. Notably, suicide polygenic scores were significantly predictive across training and test sets. Polygenic scores for several other psychiatric disorders and psychological traits were also predictive, particularly scores for behavioral disinhibition and major depressive disorder. Multiple genome-wide significant loci and genes were identified and polygenic score prediction of suicide death case-control status was demonstrated, adjusting for ancestry, in independent training and test sets. Additionally, the suicide death sample was found to have increased genetic risk for behavioral disinhibition, major depressive disorder, depressive symptoms, autism spectrum disorder, psychosis, and alcohol use disorder compared with the control sample.

Association between Obstructive Sleep Apnea and Exfoliation Syndrome: The Utah Project on Exfoliation Syndrome

Exfoliation syndrome (XFS), the most common recognizable cause of open-angle glaucoma worldwide, is a systemic disorder with genetic predisposition due to variations in lysyl oxidase-like 1 (LOXL1) function, leading to altered elastin matrices in ocular and systemic tissues. Obstructive sleep apnea (OSA) is a highly prevalent disorder also involving elastic tissue dysfunction and is associated with glaucoma. Because of the similarities between the disorders, we sought to uncover any relationship in the prevalence of these diagnoses. Case-control, retrospective cohort study. A cohort of 81 735 patients diagnosed with OSA at ages 50 to 90 years was identified from medical records from 1996 to 2017 in the Utah Population Database. Case subjects were matched to random controls on sex and birth year in a 4:1 ratio. International Classification of Diseases, Ninth Revision (ICD-9) codes or their Tenth Revision equivalent were used to define a diagnosis of OSA (ICD-9 327.23) and a diagnosis of XFS (ICD-9 365.52 and 366.11). Conditional logistic regression odds ratios (ORs) accounting for individual matching on sex and birth year were used to estimate the risk of XFS in patients with OSA. Models included adjustment for race, obesity, tobacco use, hypertension (HTN), atrial fibrillation (AF), and chronic obstructive pulmonary disease (COPD). Whether patients with OSA have an increased risk of diagnosis of XFS compared with controls without OSA. There was an increased risk of an XFS diagnosis in patients with OSA compared with non-OSA controls (OR, 1.27; 95% confidence interval [CI], 1.02-1.59; P= 0.03). In a stratification of patients by HTN diagnosis history, patients with OSA and HTN exhibited an increased risk of XFS compared with non-OSA controls with HTN (OR, 2.67; 95% CI, 2.06-3.46; P < 0.0001). Patients with OSA may be at an increased risk of XFS compared with patients without OSA, particularly in patients with a history of HTN.

Oral Health Status among Children with Repaired Esophageal Atresia.

Esophageal atresia (EA) is a congenital anomaly, presenting multifactorial etiology. Swallowing problems and gastroesophageal reflux disease may accompany EA, which have adverse effects on oral health. In this descriptive study, intraoral examination of the children with repaired EA and of the dental patients without systemic/chronic disease was performed. Dental caries, dental erosion, and halitosis status were evaluated using the International Caries Detection and Evaluation System II, and the Basic Erosive Wear Examination indices as well as the Halimeter, respectively. There were 19 (n = 12 male; n = 7 female) case subjects and 16 (n = 10 male; n = 6 female) control subjects whose age ranged between 14 and 72 months. Among cases, 15 children had dental caries (78.9%; initial caries n = 4, moderate caries n = 4, and extensive caries n = 7). Of the controls, 13 had dental caries (81.2%; initial caries n = 5, moderate caries n = 5, and extensive caries n = 3). Although the median scores of decayed, missing, filled teeth (dmft) and decayed, missing, filled surfaces (dmfs)-for primary dentition-were not statistically significantly different between two groups, both dmft and dmfs were found to be higher among the case subjects (p = 0.172 for dmft; p = 0.230 for dmfs). Furthermore, six children with repaired EA had dental abnormalities (in shape, number, or calcification) and six children with repaired EA had dental erosion. The Halimeter measurement was performed for five case children of whom three had oral malodor, and for seven control children of whom two had oral malodor. Regular dental counseling adopting the multidisciplinary team approach for patients with EA is necessary to ensure better general and oral health.

VALUE BASED MANAGEMENT IN THE NEW ECONOMY

The main objective of this paper is to investigate the updates brought by the New Economy, especially new business models brought by digitalization, on value-based management. This objective is to see if classic value-based management and the updates brought by the New Economy conflict or are somehow harmonized or complementary. Another objective is to illustrate the updates brought by digitalization as case object on Siemens as case subject. The paper is focused on value-based management particularities for digitalization products, services, solutions. The context of the paper is digitalization technology and its impact on business and society, digital transformation. The phenomenon is new to society in all and therefore both literature review and case studies are highly relevant. The article is a case study on a top European corporation, both leader in digitalization and excellent value-based management practitioner. The case study is exploratory and descriptive, searching for the connections between digitalization and value. It relies on secondary evidence about Siemens. The questions are how New Economy value patterns work in practice and how do they relate to classic value indicators, net present value of discounted cash flow or its equivalent Economic Value Added. The paper finds a connection between innovation lifecycle and investment approval or capital budgeting. The beginning of the project lifecycle involves investment in intangible assets, business models, an open network structure and is funded by venture capital. As the idea matures close to customer contract negotiation stages, the network structure turns into a project budgeted via program management and equity and debt. The findings show how so-called new capital budgeting methods, venture capital, are reconciled with classic value-based management using equity and debt and Economic Value-Added investment appraisal. Both funding methods have their logic and place in idea lifecycle at Siemens. The paper finds a match between the lean start-up method and early stages of digital offering lifecycle, and a complementarity between venture capital funding methods and equity and debt capital funding methods given by the innovation lifecycle.

Low serum trypsinogen levels in chronic pancreatitis: Correlation with parenchymal loss, exocrine pancreatic insufficiency, and diabetes but not CT-based cambridge severity scores for fibrosis

BackgroundChronic pancreatitis (CP) is a complex inflammatory disorder of the pancreas affecting acinar cells, duct cells, islet cells and inflammatory cells including fibrosis-producing stellate cells. Serum trypsinogen is a biomarkers of acinar cell function. AimTo define the degree of correlation between low trypsinogen levels as a marker of acinar cell function and variable features of CP. MethodsSerum samples from previously ascertained and well phenotyped case and control subjects from the North American Pancreatitis Study II (NAPS2) were used to measure serum trypsinogen levels in a commercial laboratory. Control samples were used to define normal ranges and compared with levels in CP patients with defined features. ResultsA final cohort of 279 CP patients and 262 controls from the NAPS2 studies were evaluated. In controls trypsinogen had a mean of 34.96 ng/ml and SD = 11.99. Cut-off values for low trypsinogen ranged from <20 to 10 ng/ml and very low trypsinogen at <10 ng/ml. Compared to controls, CP was associated with very low trypsinogen levels (p < 0.0001). Within CP, very low trypsinogen levels correlated with parenchymal loss (pancreatic surgery [p < 0.05]; atrophy with calcifications, [p < 0.001]), EPI (p < 0.01, trend p < 0.001) and diabetes (trend p < 0.01) but not CT-based criteria for fibrosis (pancreatic duct dilation, irregularity, strictures). ConclusionsVery low serum trypsinogen levels correlate with measures of acinar cell loss including surgical resection, atrophic-calcific CP, diabetes and functional symptoms EPI but not duct morphology criteria. Serum trypsinogen levels correlate with decreased acinar cell function and therefore have biomarker utility clinical management.

Mardin İli Geleneksel Halk Hekimliğinde Yanık Uygulamaları

Çevresel etkenlerin, gelenek, görenek ve tecrübeyle birleştirilmesiyle beraber yüzyıllar içerisinde halk hekimliği ortaya çıkmıştır. Mardin'de, modern tıbbın gelişimine paralel olarak halk hekimliği yöntem ve uygulamaları da değişerek ve gelişerek varlığını sürdürmektedir. Bu çalışmada, Mardin geleneksel halk hekimliğinde önemli bir yeri olan yanık tedavisi uygulamaları, örnek bir yanık vakası üzerinden ele alınmıştır. Bu çalışmaya konu olan vaka, ilk günden itibaren izlemeye alınmış, yapılan uygulamalar düzenli aralıklarla görüntülenmiş ve kayıt altına alınmıştır. Kızgın yağın dökülmesi suretiyle hastanın sol eli yanmıştır. Mardin Devlet Hastanesi acil servisinde yapılan ilk muayenede 2. derece yanık teşhisi konulmuş, ilk müdahale yapılmış ve hasta taburcu edilmiştir. İlerleyen saatlerde ağrı dayanılmaz bir hale gelince halk hekimliği yöntemlerine başvurulma ihtiyacı duyulmuştur. Daha sonra hasta, Mardin ili Kızıltepe ilçesinde yaşayan halk hekimi Ş.B.'ye başvurmuştur. Halk hekiminin eczaneden getirttiği iki ilaç, bal mumu, mum, zeytinyağı ve köy yumurtasından oluşan malzemelerle hazırladığı karışım belirli aralıklarla yaraya uygulanmıştır. Yaklaşık iki buçuk aylık bir tedavi sürecinin ardından yaranın hemen hemen iz bırakmayacak şekilde iyileştiği gözlemlenmiştir. Bu uygulamanın en önemli özelliği tedavide geleneksel halk hekimliği ile modern tıbbın olanaklarının birleştirilmesidir. Bu vakada yapılan uygulama, hastalıkların tedavisinde halk hekimliği ve modern tıbbın olanaklarının bir arada kullanılmasının önemini ortaya koymaktadır.

COPY NUMBER LOSSES IN SPECIFIC REGIONS OF COMMON VARIATION ARE SIGNIFICANTLY MORE PREVALENT IN INFERTILITY PATIENTS COMPARED WITH A POPULATION OF DEMONSTRATED FERTILITY AND LOW FETAL WASTAGE

Chromosomal microarray analysis (CMA) is a valuable standard of care for assessment of individuals with developmental disabilities and other pathological states. However, interpretation of incident copy number variants (CNV) is highly dependent upon use of prevalence data from “normal” populations. Infertility which is present in up to 15% of any population is known to be genetically heterogeneous, however such patients would typically appear in CNV databases in the “normal” population and relevant findings may go unsuspected. We performed bioinformatic analysis of the variation observed in 539 consecutive women receiving services at a major US Infertility practice for the presence of potentially relevant CNV relating to their underlying condition or unsuspected genetic risks. We compared these to a population of 79 women with exceptional fertility (grand multiparas) as demonstrated by 5 or more uncomplicated term deliveries with no clinically apparent reproductive losses. CNV were assessed with an FDA approved CMA (Affymetrix, CytoscanDX). CNV association analysis of the entire databases of CNV segments in the “infertile” and “grand multipara” cohorts was undertaken with ParseCNV program (http://parsecnv.sourceforge.net/). A typically wide range of CNV and runs of homozygosity (ROH) was observed, with many overlapping known common regions of variation and the majority predicted to be likely benign. Potential impactful rare gene findings have been reported elsewhere, including two well described recurrent pathogenic CNV observed in 3 patients each, and an appreciable number of deletions encompassing all or part of genes for known over 40 autosomal recessive conditions suggesting CNV analysis would add positively to expanded carrier screening programs. A striking presence of genomic deletions in three regions in the “infertile” cohort (6-18%), none of which were observed in any of the “grand multiparas” (p value range: 0.02-≤0.000005) We used one-sided Fisher's exact test to test for enrichment of either deletion or duplication CNVs between the “infertile” case subjects and the comparison individuals. These differential CNVs all occurred in regions of common well-known CNV of gene families on chromosomes (chr) 7, 14, and 11 (typically 12-40% prevalence range for regions; Database of Genomic Variants [DGV]; http://dgv.tcag.ca/). There was no difference in the relative occurrence of any duplications or ROH. Deletions significantly differential in prevalence between these groups were observed in several regions of very common known CNV, which may have plausible link to key theories on reproductive success and evolution. The variants observed on the first two regions (chr7 & 14) involved variant transcripts of the T-cell receptor-g and -a respectively. On chromosome 11 the deletions involved the 52N1 and 52N5 families of olfactory receptor genes. Both the immune response and olfactory perceptions have been suggested to be involved with the evolution of eutherian mammalian reproduction and fertility in humans.

Guidance and Best Practices for Nuclear Cardiology Laboratories During the COVID-19 Pandemic: An Information Statement From ASNC and SNMMI.

Guidance and Best Practices for Nuclear Cardiology Laboratories During the COVID-19 Pandemic: An Information Statement From ASNC and SNMMI.

IDOL gene variant is associated with hyperlipidemia in Han population in Xinjiang, China

Hyperlipidemia is one of the main risk factors that contributed to atherosclerosis and coronary artery disease (CAD). In the present study, our objective was to explore whether some genetic variants of human IDOL gene were associated with hyperlipidemia among Han population in Xinjiang, China. We designed a case–control study. A total of 1,172 subjects (588 diagnosed hyperlipidemia cases and 584 healthy controls) of Chinese Han were recruited. We genotyped three SNPs (rs9370867, rs909562, and rs2072783) of IDOL gene in all subjects by using the improved multiplex ligation detection reaction (iMLDR) method. Our study demonstrated that the distribution of the genotypes, the dominant model (AA vs GG + GA), and the overdominant model (AA + GG vs GA) of the rs9370867 SNP had significant differences between the case group and controls (all P < 0.001). For rs909562 and rs2072783, the distribution of the genotypes, the recessive model (AA + GA vs GG) showed significant differences between the case subjects and controls (P = 0.002, P = 0.007 and P = 0.045, P = 0.02, respectively). After multivariate adjustment for several confounders, the rs9370867 SNP is still an independent risk factor for hyperlipidemia [odds ratio (OR) = 1.380, 95% confidence interval (CI) = 1.201–1.586, P < 0.001]. The rs9370867 of human IDOL gene was associated with hyperlipidemia in Han population.