Higher Frequency In Cases Research Articles

Identifying the role of ASPN and COMP genes in knee osteoarthritis development

BackgroundOsteoarthritis (OA) is a common cause of musculoskeletal disability among elders and is characterized by late-onset degeneration of articular cartilage. OA affects various joints, commonly hand, knee, and hip, with clinical features that are unique to each joint. This study was initiated to identify and evaluate the role of the ASPN and COMP genes in the development of knee OA.MethodsA case–control study was carried out involving 500 cases with knee OA (diagnosed by the American College of Rheumatology) and an equal number of healthy controls. Blood was drawn for genomic DNA isolation. PCR-RFLP and TaqMan assay methods were used to identify the SNPs. mRNA and protein expression of genes were carried out in peripheral blood lymphocytes (PBLs) by RT-PCR and Western immunoblotting. The data obtained were analyzed for the statistical significance between control and case groups.ResultsThe variant genotype of ASPN and COMP genes was found to be present at a relatively higher frequency in cases than controls. RT-PCR and immunochemical studies revealed increased mRNA and protein expression of such gene in PBLs isolated from cases of knee OA as compared to healthy control.ConclusionThe allelic alteration in ASPN and COMP genes in knee OA cases points to the role of these genes in the development of knee OA. Further, increased mRNA and protein expression of ASPN and COMP in peripheral blood samples of patients with the disease suggest that expression profile of candidate gene could be used as a biomarker for predicting the development and progression of knee OA.

The genetic association between osteoprotegerin gene polymorphisms and fracture risk in Chinese Han population.

This article put the genetic association exploration of osteoprotegerin (OPG) gene polymorphisms in promoter region (A-163G, T-245G) and fracture risk first and hoped to explain the ethology of fracture. The genotyping of OPG gene polymorphisms was conducted with the method of polymerase chain reaction-restriction fragment length polymorphism in 125 fracture patients and 138 relative controls. The genotype frequencies of selected controls based on OPG gene polymorphisms were checked by the χ2 test whether conformed to Hardy-Weinberg equilibrium (HWE). The relative risk was represented with odds ratio (OR) and 95% confidence interval (95% CI) between gene polymorphism and disease. The linkage disequilibrium (LD) and haplotype were also analyzed. The genotypes distributions of selected controls in OPG polymorphisms conformed to HWE. The G allele of A-163G polymorphism carriers had the tendency to suffer from fracture in the same condition, compared with A allele carriers (OR = 1.63, 95% CI = 1.04-2.55). TG and TG/GG genotypes of OPG T-245G polymorphism also showed the increased risk of fracture development, but not TT genotype (OR = 2.22, 95% CI = 1.15-4.28; OR = 2.45, 95% CI = 1.28-4.68). Likely, the mutant allele G had an abnormally higher frequency in cases than controls (14.00% and 6.16%). These two polymorphisms existed the LD and the haplotype G -163 -G -245 obviously increased the risk of fracture. OPG A-163G, T-245G polymorphisms were associated with the onset of fracture and both the independent risk factors.

Rare, low-frequency and common coding variants of ARHGEF28 gene and their association with sporadic amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Over 90% of cases are sporadic (sALS) and 5%–10% are familial (fALS). So far, more than 20 genes/loci have been linked to ALS. C9orf72, SOD1, TARDBP, and FUS are noted as the most common ALS genes; however, mutations of these genes explain <10% of sALS cases. Recently, Rho guanine nucleotide exchange factor, encoded by ARHGEF28, has been linked to the ALS pathogenesis, possibly by binding low-molecular-weight neurofilament mRNA and affects its stability. However, a systemic screening of ARHGEF28 mutations in ALS is lacking. In this study, we sequenced the entire coding sequence of ARHGEF28 in a Chinese cohort of 399 sporadic ALS and 327 elderly controls. A total of 73 coding variants were identified, including 26 synonymous and 47 nonsynonymous. Among the nonsynonymous variants, 33 were rare (minor allele frequency [MAF]<0.01), in which 18 were only identified in cases and 12 were only in controls. Three loss-of-function mutations were identified, including 2 truncations (p.Arg231Ter and p.Ser561Ter) and a frameshift deletion (p.Lys1070fs) in 2 cases and 1 control subject. The frequency of total and case-only rare variants was 7.5% (30/399) and 5.0% (20/399), respectively, in the patients. SKAT-O test suggested that the novel coding variants were marginally enriched in the cases (p = 0.049). Single-variant analysis suggested that the p.Asn1046Ser variant had a higher frequency in cases (8/399, 0.02) than in controls (1/327, 0.003) (OR: 6.67, 95% CI: 0.83–53.61; p = 0.046). By contrast, none of the low-frequency (MAF: 0.01–0.05) or common (MAF > 0.05) variants was associated with ALS (p > 0.05). Among all patients, 9 (2.3%) carried rare variants predicted to be deleterious, and the age at onset of these carriers (45.6 ± 10.9 years) was marginally younger than noncarriers (51.9 ± 10.7 years) (p = 0.11). Our results supported a possible genetic contribution of rare but not low-frequency and common coding variants to ALS. These data may have implications in the mechanisms and genetic counseling of the disease.

Performance of Reciproc Blue R25 Instruments in Shaping the Canal Space without Glide Path

IntroductionThis study assessed the frequency in which Reciproc Blue R25 instruments (VDW, Munich, Germany) reached the full working length (WL) of mandibular molar canals without a glide path. The influence of the type of electric motor (ie, conventional corded or cordless) on the instrument's performance was also assessed. MethodsOne hundred mandibular molars with slight to moderate root canals were selected and randomly assigned into 1 of 2 experimental groups according to the type of electric motor used: conventional corded (VDW Silver, VDW) or cordless motors (VDW.CONNECT Drive, VDW). Therefore, 50 molars and 154 root canals were selected for each motor. Reciproc Blue R25 instruments were used until reaching two thirds of the estimated WL. Then, a size 10 K-file was passively inserted to determine the full WL. No active instrumentation movement was performed with a size 10 K-file. Independently, whether a size 10 K-file reached the apex or not, Reciproc Blue R25 instruments were used to complete canal preparation. When the Reciproc Blue R25 instrument was able to reach the full WL, the case was classified as “reaching the full working length” (RFWL). If the instrument was not able to reach the full WL, the case was classified as “not reaching the full working length” (NRFWL). The chi-square test of goodness of fit was used to verify whether the observed frequencies of RFWL and NRFWL adhered to the expected ones. A 5% cutoff level of significance was considered for statistical assumptions. ResultsReciproc Blue R25 instruments were able to reach the full WL in 304 root canals (98.70%). The chi-square test revealed the observed frequencies of RFWL and NRFWL to be significantly different from the expected frequencies (χ2 = 292,208, P = .000). The frequency of RFWL and NRFWL was exactly the same for both types of electric motors. No instrument fractured, and a single file deformed. In 50 of 308 root canals, a size 10 K-file was unable to passively reach the full WL. From these 50 canals, Reciproc Blue R25 instruments were able to reach the full WL in 47 of them. ConclusionsReciproc Blue R25 instruments were able to reach the full WL in a high frequency of cases. The type of electric motor used did not interfere in the frequency of RFWL cases. No instrument fractured, and a single file deformed.

Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

Preterm birth is a leading cause of morbidity and mortality in infants. Genetic and environmental factors play a role in the susceptibility to preterm birth, but despite many investigations, the genetic basis for preterm birth remain largely unknown. Our objective was to identify rare, possibly damaging, nucleotide variants in mothers from families with recurrent spontaneous preterm births (SPTB). DNA samples from 17 Finnish mothers who delivered at least one infant preterm were subjected to whole exome sequencing. All mothers were of northern Finnish origin and were from seven multiplex families. Additional replication samples of European origin consisted of 93 Danish sister pairs (and two sister triads), all with a history of a preterm delivery. Rare exonic variants (frequency <1%) were analyzed to identify genes and pathways likely to affect SPTB susceptibility. We identified rare, possibly damaging, variants in genes that were common to multiple affected individuals. The glucocorticoid receptor signaling pathway was the most significant (p<1.7e-8) with genes containing these variants in a subgroup of ten Finnish mothers, each having had 2–4 SPTBs. This pathway was replicated among the Danish sister pairs. A gene in this pathway, heat shock protein family A (Hsp70) member 1 like (HSPA1L), contains two likely damaging missense alleles that were found in four different Finnish families. One of the variants (rs34620296) had a higher frequency in cases compared to controls (0.0025 vs. 0.0010, p = 0.002) in a large preterm birth genome-wide association study (GWAS) consisting of mothers of general European ancestry. Sister pairs in replication samples also shared rare, likely damaging HSPA1L variants. Furthermore, in silico analysis predicted an additional phosphorylation site generated by rs34620296 that could potentially affect chaperone activity or HSPA1L protein stability. Finally, in vitro functional experiment showed a link between HSPA1L activity and decidualization. In conclusion, rare, likely damaging, variants in HSPA1L were observed in multiple families with recurrent SPTB.

Ventricular premature beats as a rare onset of sarcoidosis.

Cardiac sarcoidosis is of predictive value, but its diagnostics is difficult in view of the lack of pathognomonic clinical signs and the high frequency of cases with subclinical course. In this article, we present an algorithm of clinical examination and treatment strategy using combined immunosuppressive therapy of cardiac sarcoidosis in a young women whose only symptom was frequent premature ventricular beats. In this clinical case cardiac sarcoidosis was diagnosed practically at the onset of the disease and the use of massive immunosuppressive therapy allowed to reach considerable positive dynamics even before development of irreversible changes both in myocardium and lungs.

Cardiac Myxomas: A Histodemographic Analysis

Background: Cardiac myxoma is the most common benign cardiac tumour, accounting for more than half of all primary cardiac tumours. Most myxomas are sporadic and the cause is largely unknown. Familial variants with an autosomal dominant inheritance exist. It is localized generally in the left atrium and typically develops in females. Clinical manifestations can mimic cardiac conditions and depend on the natural behaviour of the tumour and its location within the heart, ranging from being completely asymptomatic to causing sudden death. Establishing an early diagnosis is essential, which is confirmed by histopathology.Objective: The aim was to find the relation between cardiac myxomas with age, sex and cardiac sites.Materials and method: This cross sectional study was done in the pathology department of Delta Hospital Limited, Dhaka, Bangladesh, during the period of January 2014 to July 2016. A total of 24 cases were studied irrespective of age, sex along with clinical diagnosis.Results: Among the study subjects females were predominant (70.83%) and highest frequency of cases occurred in between 41-50 years of age (41.67%). Commonest site was left atrium (83.33%).Conclusion: The present study revealed that cardiac myxoma occurs most commonly in the 5th decade with female predominance and the most common site is left atrium.Delta Med Col J. Jan 2018 6(1): 4-8

Takotsubo Syndrome is Associated with Mood Disorders and Antidepressants Use, not with Anxiety and Impairment of Quality of Life Due to the Psychiatric Disorder.

Background:The aim was to study the association between mood and anxiety disorders and the Tako-Tsubo Syndrome (TTS) and to determine the role of antidepressants and the impairment of quality of life due the comorbid psychiatric disorder.Methods:Case-control study: 19 consecutive patients (17 female) with TTS compared to 76 controls without TTS, were randomly selected from the database of a nationwide epidemiological study after matching (gender, age and residence) by controls. Psychiatric diagnoses were carried out according to the ICD-10 using semi-structured interview tools (ANTAS-SCID) administered by clinical staff. Quality of Life (Qol) was assessed by means of SF-12.Results:Only Major Depressive Disorders (MDD) showed higher frequencies in cases with statistical significance difference (p=0.014) as well as at least one Mood Disorder Diagnosis [MDD or BD] (p=0.002). The lifetime prevalence of at least one anxiety disorder with no comorbid mood disorder did not show a higher frequency in cases (p=0.57).The score at SF-12 in the TTS group was similar to those of controls (p=0.71)In the TTS group, the score at SF-12 in people with one mood or anxiety diagnosis (N=7) was similar to those without mood or anxiety diagnosis (p=0.75). The use of antidepressants was higher in TTS group (15.79% vs 1.31%; p=0.030).Conclusion:The study shows an association between TTS with depressive disorders and antidepressants use and does not confirm the association with anxiety syndromes. The study suggests the need to investigate the possible interactions between antidepressants use and mood disorders in studies with appropriate design and sample size.

Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects

BackgroundRitodrine is a commonly used tocolytic to prevent preterm labour. However, it can cause unexpected serious adverse reactions, such as pulmonary oedema, pulmonary congestion, and tachycardia. It is unknown whether such adverse reactions are associated with pharmacogenomic variants in patients.MethodsWhole-exome sequencing of 13 subjects with serious ritodrine-induced cardiac and pulmonary side-effects was performed to identify causal genes and variants. The deleterious impact of nonsynonymous substitutions for all genes was computed and compared between cases (n = 13) and controls (n = 30). The significant genes were annotated with Gene Ontology (GO), and the associated disease terms were categorised into four functional classes for functional enrichment tests. To assess the impact of distributed rare variants in cases with side effects, we carried out rare variant association tests with a minor allele frequency ≤ 1% using the burden test, the sequence Kernel association test (SKAT), and optimised SKAT.ResultsWe identified 28 genes that showed significantly lower gene-wise deleteriousness scores in cases than in controls. Three of the identified genes—CYP1A1, CYP8B1, and SERPINA7—are pharmacokinetic genes. The significantly identified genes were categorized into four functional classes: ion binding, ATP binding, Ca2+-related, and ciliopathies-related. These four classes were significantly enriched with ciliary genes according to SYSCILIA Gold Standard genes (P < 0.01), thus representing ciliary genes. Furthermore, SKAT showed a marginal trend toward significance after Bonferroni correction with Joubert Syndrome ciliopathy genes (P = 0.05). With respect to the pharmacokinetic genes, rs1048943 (CYP1A1) and rs1804495 (SERPINA7) showed a significantly higher frequency in cases than controls, as determined by Fisher’s exact test (P < 0.05 and P < 0.01, respectively).ConclusionsRitodrine-induced cardiac and pulmonary side effects may be associated with deleterious genetic variants in ciliary and pharmacokinetic genes.

A polymorphism in the haptoglobin, haptoglobin related protein locus is associated with risk of human sleeping sickness within Cameroonian populations.

BackgroundHuman African Trypanosomiasis (HAT) is a neglected disease targeted for elimination as a public health problem by 2020. Elimination requires a better understanding of the epidemiology and clinical evolution of HAT. In addition to the classical clinical evolution of HAT, asymptomatic carriers and spontaneous cure have been reported in West Africa. A genetic component to human susceptibility to HAT has been suggested to explain these newly observed responses to infection. In order to test for genetic associations with infection response, genetic polymorphism in 17 genes were tested (APOL1, IL1B, IL4, IL4R, IL6, IL8, IL12B, IL12RB1, IL10, TNFA, INFG, MIF, HLA-G, HLA-A, HP, HPR and CFH).MethodologyA case-control study was performed on 180 blood samples collected from 56 cases and 124 controls from Cameroon. DNA was extracted from blood samples. After quality control, 25 samples (24 controls and 1 case) were eliminated. The genotyping undertaken on 155 individuals including 55 cases and 100 controls were investigated at 96 loci (88 SNPs and 8 indels) located on 17 genes. Associations between these loci and HAT were estimated via a case-control association test.ResultsAnalyses of 64 SNPs and 4 indels out of 96 identified in the selected genes reveal that the minor allele (T) of rs8062041 in haptoglobin (HP) appeared to be protective against HAT (p = 0.0002395, OR 0.359 (CI95 [0.204–0.6319])); indicating higher frequency in cases compared to controls. This minor allele with adjusted p value of 0.0163 is associated with a lower risk (protective effect) of developing sleeping sickness.ConclusionThe haptoglobin related protein HPR and HP are tightly linked and both are duplicated in some people and may lead to higher activity. This increased production could be responsible of the protection associated with rs8062041 even though this SNP is within HP.

Occurrence of leucism in Eira barbara (Carnivora, Mustelidae) in Brazil

Abstract The occurrence of anomalous coloration (albinism, leucism and melanism) in mammals is a rare phenomenon in nature, but this phenomenon has been reported for several species of mammals. In this study, we report on the occurrence of leucism in Eira barbara by examining three road-killed individuals and two sightings of live animals in Reserva Particular do Patrimônio Natural Santuário do Caraça, southeastern Brazil. In addition, we examined tayra specimens housed in mammal collections from Brazil and USA. The animals found dead and those sighted had a whitish yellow fur on the body and head, resulting in lighter coloration than the coloring pattern commonly observed in tayras. Despite these lighter color pattern, the specimens showed parts of soft tissue, such as iris and the skin, with pigmentation very similar to that present in individuals with the typical color pattern. This set of factors indicates the specimens recorded were in fact leucistic and not albino. Among the specimens examined in the scientific collections, we found nine individuals from different localities that presented the whitish yellow color pattern. Some studies attribute the higher frequency of cases of leucism due to small populations and / or with some mechanism of reproductive isolation. Thus, analysis of the genetic variability of populations containing individuals with such characteristics should be considered. On the other hand, the occurrence of polymorphic color phenotype in tayras indicates that hypotheses related to the fixation of recessive characteristics, or on possible environmental adaptive advantages of these phenotypes can be tested.

The Association Between the Genetic Variants of the NOTCH3 Gene and Ischemic Stroke Risk

BackgroundIschemic stroke (IS) is a leading cause of disability and death and NOTCH3 as a gene related with cardiac-cerebral vascular disease plays a vital role in IS development. However, the reports about the effect of genetic variants in NOTCH3 gene on IS are still few.Material/MethodsIn order to explore the association between NOTCH3 polymorphisms and IS, 134 patients with IS and 115 controls were enrolled in this case-control study. Polymerase chain reaction was used to do the genotyping of polymorphisms. The χ2 test was performed to evaluate Hardy-Weinberg equilibrium (HWE) in the control group and calculate odds ratio (OR) with corresponding 95% confidence interval (CI) which represented the association intensity of NOTCH3 gene polymorphisms and IS risk.ResultsThe genotype frequencies in the control group all confirmed to HWE. TT genotype of 381C>T was associated significantly with IS risk (OR=2.441, 95%CI=1.021–5.837). TC, CC mutant genotypes of 1735T>C had higher frequencies in cases than controls and the difference was significant (P=0.013, 0.041); further, its C allele also increased 0.722 times risk in the case group than controls (OR=1.722, 95%CI=1.166–2.541).ConclusionsNOTCH3 381C>T and 1735T>C polymorphisms were associated with IS and might be the risk factors for IS development, but not NOTCH3 605C>T polymorphism.

Human cysticercosis in Portugal: long gone or still contemporary?

Cysticercosis, a leading cause of acquired epilepsy in developing countries, has been controlled or eradicated in industrialized countries. This paradigm has recently been challenged, with human neurocysticercosis (NCC) being increasingly diagnosed in these countries. In order to assess the NCC burden in Portugal, a retrospective study on NCC hospitalizations (2006-2013) was conducted based on the national database on hospital morbidity: 357 hospitalized cases were detected. NCC was most frequent in the following age groups: 20-64 years (n = 197, 55·2%) >64 years (n = 111, 31·1%), and <20 years (n = 49, 13·7%). In the Norte and Centro regions cases tended to be older than in the Lisboa and Vale do Tejo Region. The results raise concerns for imported and autochthonous disease, suggesting the Lisboa and Vale do Tejo Region, due to its higher frequency of cases at younger ages, as a priority for research and intervention, and further suggest that NCC should be under surveillance (notifiable). The National Observatory of Cysticercosis and Taeniasis has been established and will define NCC cases as well as monitoring and surveillance.

Itajaí, Santa Catarina - Azorean ancestry and spinocerebellar ataxia type 3.

The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of the state of Santa Catarina with a large population of Portuguese/Azorean descent.

The pattern of tuberculosis in Aswan Chest Hospital, Egypt

Objective/backgroundTuberculosis (TB) is a major health problem. The aim of this study was to examine the pattern of TB in Aswan Chest Hospital, Aswan, Egypt. MethodsThis cross-sectional study was carried out using medical records from the TB registry in Aswan Chest Hospital. The investigated variables included demographic characteristics, type of TB infection, and affected organs. All data were coded and statistically analyzed. ResultsThe average age of the 557 patients infected with TB was 40.31±18.87years; 58.2% of the cases were men and 41.8% were women. In both sexes, the highest number of TB patients was from the reproductive age groups. During the 5-year study period, the highest percentage of cases were new cases and the highest frequency of cases was during 2011 and the lowest frequency was during 2015. Pulmonary TB cases showed a sharp decline; however, there was a decrease in extrapulmonary TB cases during 2012 and 2013, with a slight rise in 2014 and 2015. Of the pulmonary TB cases, 82.5% were smear-positive TB. ConclusionThere was a decline in the total number of TB cases across the studied years and the most studied cases were pulmonary smear-positive and new cases. Younger people represented a large percentage of reported cases.

Association of Genetic Variants in Pentraxin 3 Gene with Ankylosing Spondylitis.

BackgroundPentraxin 3 is considered to play an important role in immune and inflammatory reaction. This study aimed to detect the effect of pentraxin3 gene (PTX3) polymorphisms on ankylosing spondylitis (AS) risk.Material/MethodsThe genotyping of PTX3 polymorphisms in 101 AS patients and 93 controls was conducted by allelic discrimination assay and the genotype distribution was assessed for Hardy-Weinberg equilibrium (HWE). The differences of genotype, allele, haplotype, and some basic indexes were compared by χ2 test. Odds ratio (OR) and 95% confidence interval (95%CI) were also calculated by χ2 test and were used to evaluate the association intensity between gene polymorphisms and disease. Haploview software was used to analyze the linkage disequilibrium (LD) and haplotypes of PTX3 polymorphisms.ResultsCC genotype of rs3816527 had an obviously higher frequency in cases than in controls and had a positive effect on AS occurrence (OR=3.14, 95%CI=1.04–9.52), and the same was true of the C allele in rs3816527. For rs3845978, CT genotype showed a significant frequency difference between the case and control groups (P=0.03) and people with genotypes carrying the T allele developed AS earlier (OR=1.94, 95%CI=1.09–3.47), and the same was found in the analysis of the T allele. G-C-T haplotype dramatically increased the risk of AS, as may A-C-C haplotype.ConclusionsIn PTX3 polymorphisms rs3816527 and rs3845978 were found to be associated with AS, but rs2305619 was not.

Baseline Inflammatory Biomarkers Identify Subgroups of HIV-Infected African Children With Differing Responses to Antiretroviral Therapy.

Background. Identifying determinants of morbidity and mortality may help target future interventions for human immunodeficiency virus (HIV)–infected children.Methods. CD4+ T-cell count, HIV viral load, and levels of biomarkers (C-reactive protein, tumor necrosis factor α [TNF-α], interleukin 6 [IL-6], and soluble CD14) and interleukin 7 were measured at antiretroviral therapy (ART) initiation in the ARROW trial (case-cohort design). Cases were individuals who died, had new or recurrent World Health Organization clinical stage 4 events, or had poor immunological response to ART.Results. There were 115 cases (54 died, 45 had World Health Organization clinical stage 4 events, and 49 had poor immunological response) and 485 controls. Before ART initiation, the median ages of cases and controls were 8.2 years (interquartile range [IQR], 4.4–11.4 years) and 5.8 years (IQR, 2.3–9.3 years), respectively, and the median percentages of lymphocytes expressing CD4 were 4% (IQR, 1%–9%) and 13% (IQR, 8%–18%), respectively. In multivariable logistic regression, cases had lower age-associated CD4+ T-cell count ratio (calculated as the ratio of the subject's CD4+ T-cell count to the count expected in healthy individuals of the same age; P < .0001) and higher IL-6 level (P = .002) than controls. Clustering biomarkers and age-associated CD4+ and CD8+ T-cell count ratios identified 4 groups of children. Group 1 had the highest frequency of cases (41% cases; 16% died) and profound immunosuppression; group 2 had similar mortality (23% cases; 15% died), but children were younger, with less profound immunosuppression and high levels of inflammatory biomarkers and malnutrition; group 3 comprised young children with moderate immunosuppression, high TNF-α levels, and high age-associated CD8+ T-cell count ratios but lower frequencies of events (12% cases; 7% died); and group 4 comprised older children with low inflammatory biomarker levels, lower HIV viral loads, and good clinical outcomes (11% cases; 5% died).Conclusions. While immunosuppression is the major determinant of poor outcomes during ART, baseline inflammation is an additional important factor, identifying a subgroup of young children with similar mortality. Antiinflammatory interventions may help improve outcomes.

Migration of endoluminal gastroesophageal stents: A case series

Introduction: Microperforation of the stomach following bariatric surgical procedures is often treated with endoluminal stent placement. Endoluminal stents migrate out of the desired position in a high frequency of cases. case series: this paper reports a series of five cases in which endoluminal stents migrated antegrade into unfavorable positions. One of the cases resulted in the stent migrating into the jejunum where it resulted in a jejunal perforation requiring surgery and bowel resection. After endoscopic repositioning of the stents, endoluminal suture fixation resulted in stabilization of the stents, prevented further migration, and facilitated clinical resolution of gastric fistula. No complications of the endoluminal suture fixation to the esophageal wall occurred, and all patients recovered fully. conclusion: this paper presents five cases of migrated gastroesophageal stents that were successfully secured with endoluminal sutures without complications. Endoluminal suturing may be a technically straightforward and useful solution to the migration of gastroesophageal stents.

The coexistence of primary hyperparathyroidism and thyroid nodules: should the preoperative work-up of the parathyroid and the thyroid diseases be specifically adjusted?

Primary hyperparathyroidism (PHPT) can be found in concomitance with thyroid disease (TD) in a high frequency of cases. In this context the diagnostic exams for localizing the enlarged parathyroid(s) gland(s) could be less reliable or nonconclusive. Moreover, the thyroid carcinoma seems to be more frequent compared to that isolated thyroid desease and, therefore, carefully investigated. The main goal of the present study is to evaluate which diagnostic tool (US, MIBI) is more reliable for localizing the site of the PTH hypersecretion and to confirm if it is always advantageous a combination of both exams. Besides, we evaluated the incidence of thyroid carcinoma in our series of patients. A review of available data of 73 patients who underwent total thyroidectomy + parathyroidectomy from 2003 and 2014 was performed. The preoperative workup included systematically US and MIBI whose results were considered true positive when at least the side (left/right) of the parathyroid affected were concordant with the surgical report, settled as the gold standard, according to the Cox nonnested model. The connection between the diagnostic results of US versus MIBI was calculated with the Cohen K index for evaluating their overlap. The average of the thyroid carcinoma were also calculated. The difference between respectively US versus surgical report (p value=0.73) and MIBI versus surgical report (p value=0.81) were not significant. The low Cohen K index showed that both US and MIBI are complementary. In 23 patients (32,9%) a thyroid carcinoma was found. The association of MIBI and neck US is mandatory in the first evaluation of patients undergoing thyroidectomy and parathyroid excision simultaneously. The high prevalence of thyroid carcinoma in this specific context suggests a more aggressive diagnostic and surgical behaviour.

PES PLANUS &amp; GENU VALGUM

Pes planus (flat foot) is a musculoskeletal abnormality of lower limb, oftenassociated with some degree of malalignment at the knee i.e. genu valgum (knock knees). Inmajority of cases, these deformities resolve by themselves during infancy and childhood, butif they persist in adolescent age, then there is no chance of resolution and might pose seriousproblems for the individual in the future. Objectives: The objective of this study was to determinethe factors associated with pes planus and genu valgum in adolescents. The two main factorsunder investigation were physical activity and dietary habits of adolescents and their effect onthese lower limb musculoskeletal conditions. Material and methods: A case-control study wasconducted on 400 (161 cases and 239 controls) school- going adolescents (11-16 years). Aftercompleting the demographic data and recording the height and weight of each participant, thediagnosis of pes planus was made on the basis of physical examination and special tests. Thedata for genu valgum was collected by the measurement of clinical tibiofemoral angle. A selfreportquestionnaire was used to collect other relevant data such as the symptoms experiencedby the individuals. Data was analyzed on SPSS 21. Results: Out of 400 adolescents, therewere 171 males and 229 females. The physical activity level of cases was 2.17 ± 0.70, slightlyless than that of control group 2.32 ± 0.76. The diet score of cases (11.087 ± 3.75) did notdiffer much from that of controls (11.214 ± 3.75). Tibiofemoral angle of cases was 15.7 ± 3.42degrees valgus for controls it was 14.1 ± 3.49 degrees valgus. There was also a greater trendof cases towards overweight (12.8% cases and 7.43% controls) and obesity (5.84% cases and2.62% controls), whereas the frequency of controls was higher in underweight (19.8% casesand 27.5% controls) and healthy/ normal weight category (55.5% cases and 66.8% controls).Other associated symptoms such as foot pain, knee pain, trauma to foot and knee, difficultyin running and jumping activities etc were also found to be in higher frequency in cases ascompared to in controls along with significant gender differences. Conclusion: Our study resultsshowed that reduced physical activity can be a factor for causation of flat foot and knock-kneesbut the difference in diet habits was not very significant between cases and controls. Thereforeunhealthy diet is not a very considerable factor in the contribution to musculoskeletal conditionsin lower limb. There was a direct link between obesity and pes planus, along with a greater TFA.There was also a higher incidence of knee pain in the flat foot cases who complained of footpain along with various other associated symptoms.