Asymptomatic Females Research Articles

Clinical impact of sex on carotid revascularization

BackgroundThe impact of sex in the management of carotid disease is unclear in the current literature. Therefore, we evaluated the effect of sex on perioperative outcomes following carotid endarterectomy (CEA) and carotid artery stenting (CAS). MethodsWe included patients who underwent CEA or CAS between 2012 and 2017 in the Vascular Quality Initiative database. Our primary outcome was perioperative stroke/death. Secondary outcomes were in-hospital stroke, 30-day mortality, and in-hospital MI. We compared perioperative outcomes between female and male patients, stratified by treatment modality and symptom status, and used multivariable regression to account for differences in baseline characteristics. ResultsA total of 83,436 patients underwent either a CEA (71,383) or CAS (12,053). Asymptomatic and symptomatic CEA females were less likely to be on a preoperative antiplatelet agent, when compared to males. Females overall, were less likely to be on a preoperative statin and more likely to have chronic obstructive pulmonary disease. Within the CAS cohort, females were more likely to have a previous ipsilateral CEA. There were no differences between males and females in major adverse events following CEA for asymptomatic disease. Following CEA for symptomatic disease, there was no difference in stroke/death rate or in-hospital stroke. However, females experienced a higher 30-mortality after adjustment (univariate: 1.0% vs 0.7%, P = .04; adjusted: odds ratio [OR], 1.4:1.02-1.94). Following CAS for asymptomatic disease, females experienced a higher rate of perioperative stroke/death (2.9% vs 1.9% P = .02; OR, 1.5: 1.05-2.03) and in-hospital stroke (2.1% vs 1.2% P = .01; OR, 1.8: 1.20-2.60). There were no differences in outcomes for symptomatic females vs males undergoing CAS. ConclusionsFemales with carotid disease less frequently receive optimal medical treatment with antiplatelet agents and statins. This is an important target area for quality improvement issue in both females and males. Furthermore, among symptomatic CEA patients the female sex is associated with higher mortality and among asymptomatic CAS patients, females experience higher rates of stroke/death. These findings suggest that careful patient selection is necessary in the treatment of female patients. Quality improvement projects should be created to further investigate and eliminate the disparities of optimal medical management between the sexes.

Aetiological Pattern of Vulvovaginal Infections in Asymptomatic and Symptomatic HIV Seropositive Women on Antiretroviral Therapy

Introduction: Human Immunodeficiency Virus (HIV) causes severe public health problems. Despite the use of Highly Active Antiretroviral Therapy (HAART), opportunistic infections remain a serious problem in HIV infection. HIV seropositive women are at a higher risk of acquiring Vulvovaginal Infections (VVI), compared to their HIV seronegative counterparts. Also, the large untreated asymptomatic populations remain a source for transmitting agent. Aim: To identify the occurrence of vaginitis in symptomatic and asymptomatic HIV seropositive women. Materials and Methods: HIV seropositive female patients (60 symptomatic and 60 asymptomatic for vulvovaginitis) in the reproductive age group of 18-60 years were screened for their vaginal flora in a tertiary care hospital in East Delhi, India. Wet mount, Gram stain, and culture were performed to screen the samples for vaginitis. Asymptomatic samples were processed to check for asymptomatic VVI. Nugent and Amsel’s score were calculated for Bacterial Vaginitis (BV), and Donders classification was used for Aerobic Vaginitis (AV). Sabouraud’s Dextrose Agar (SDA) was used for fungal cultures, and Fluconazole and Voriconazole sensitivity was tested. The descriptive analysis of compiled data with Chi-square tests where applicable to compare differences between proportions was done. Results: As per the Nugent's score, 90% of symptomatic and 86.66% asymptomatic HIV reactive females had BV. Nugent scoring was found to be a better diagnostic criterion for BV. AV was observed in 33.33% asymptomatic patients. Candida albicans (C.albicans)was the most common agent isolated from 68.75% of Vulvovaginal Candidiasis (VVC) cases. Dual infection of BV and Candidiasis was reported to be 18.33% in symptomatic and 15% in asymptomatic HIV seropositive females. Conclusion: In the present study, despite Antiretroviral Therapy (ART), attendees manifested significantly with BV infection in both groups. VVC due to C. albicans was also predominant in both groups. Co-infection with BV and VVC was the highlight of this study as dual infections of BV and AV remain under-diagnosed as per Sexually Transmitted Infection (STI) syndromic management protocols. The clinicians need to identify AV as a separate entity as treatment modalities are essentially different.

Evaluation of Left Ventricular Function in Patients with Systemic Lupus Erythematosus: Association of Tissue Doppler and Strain Imaging with Disease Activity

Background: Systemic lupus erythematosus (SLE) is a connective tissue disorder with cardiovascular involvement associated with high morbidity and mortality. Routine echocardiography often misses early myocardial involvement. We intend to use tissue Doppler imaging (TDI), strain and strain rate imaging to reveal subclinical myocardial dysfunction in asymptomatic females with SLE; and its correlation with disease activity and anticardiolipin antibodies. Materials and Methods: Forty-three female SLE patients without cardiac symptoms or signs and matched healthy control group (n = 20) underwent standard echocardiography, TDI, strain and strain rate imaging. Disease activity of SLE was assessed using the SLE disease activity index (SLEDAI); ≥6 points were considered active. Results: Mean age of SLE patients was 29.86 years with a mean SLEDAI score of 4.36 ± 4.5. Standard two dimensional-Echocardiogram parameters were similar to healthy controls. SLE was associated with significantly impaired systolic myocardial velocities of left ventricle measured by TDI; medial S': 8.5 ± 1.2 versus 9.6 ± 1.0 cm/s, P = 0.007; lateral S': 9.2 ± 1.7 versus 11.4 ± 1.6 cm/s, P = 0.012); and decrease in strain (−17.2% ± 2.2% vs. −20.95% ± 2.1%; P

Normative ability of young females to control the lumbopelvic curvature during active knee extension in sitting.

[Purpose] Active unilateral knee extension in sitting (AUKEiSit) is a clinical test for lumbopelvic control during limb movements. We aimed to identify the normal upper limit for the angle of lumbopelvic sagittal alignment (θ) during AUKEiSit in young females. [Participants and Methods] The primary inclusion criteria of the participant included asymptomatic females 18–44 years of age. Lumbopelvic curvature from T12 to S2 was traced on paper using a flexible ruler during right AUKEiSit. The θ value was calculated using 2 methods: 1) 2-point-method, calculating the angle between 2 tangential lines at T12 and S2 on a trace line using Image J software; and 2) max-method, calculating θ by measuring the distance between T12 and S2 and the maximum depth of the curvature. A negative value of θ indicated lumbar lordosis. The mean and 95% confidence intervals (CIs) were computed with bootstrapping. [Results] The data of 121 participants (mean age: 20.6 years) were analyzed. The mean and 95% confidence intervals of θ were −12.06° (−14.03° to −9.40°) with the 2-point-method and −5.40° (−7.62° to −2.73°) with the max-method. [Conclusion] In asymptomatic young females, the 95% confidence intervals of θ during AUKEiSit are negative regardless of the 2 different methods.

Dissecting aortic aneurysm associated with severe aortic regurgitation in an asymptomatic young female

An aortic aneurysm is a rare clinical entity since most patients will present with complications of dissection or rupture before the size of aneurysm reaches that magnitude. The classical presentation of a patient with acute aortic dissection (AAD) is characterized by severe chest, back, or abdominal pain, ripping or tearing in nature (mimics myocardial infarction). However, some patients present with painless AAD. We hereby present a case report of a 28-year aged female who presented with palpitation from the past 2 years, diagnosed to have aortic aneurysm with dissection and severe aortic regurgitation. She eventually underwent Bentall's procedure and had an uneventful recovery.

Gender Differences of the Oucome After Revascularization Fo Carotid Artery Stenosis – Vascunet Study

Introduction: The aim of this study was to compare short-term outcome after revascularization of carotid stenosis between males and females. Methods: Data on carotid endarterectomies (CEA) and stentings (CAS) from fifteen national or regional vascular registries were collected and amalgamated using common data sets accepted by all participants. Data were collected from 2009 to 2017. Primary endpoint was combined stroke - and death rate. Also, impact of delay was analyzed in both genters. Results: A total of 207638 (55% CEAs, 45% CASs) patients were included, 65% were male (n=135137) and 35% female (n=72501). The proportion of symptomatic patients was 49% among males and 47% among females. 30-day combined stroke and death rate after CEA for asymptomatic males and females was 2.5% vs. 2.6% (p=0.4), combined death, stroke and myocardial infarction rate 3.5% vs. 3.8% (p=0.2). Mortality was slightly higher among males (0.9% vs. 0.7%; p=0.048). Among symptomatic patients the corresponding rates were 2.4% vs. 2.5% (p=0.7), 3.0 vs. 3.2% (p=0.4) and 0.9% vs. 1.1% (p=0.2). After CAS, 30-day combined stroke and death rate in asymptomatic males and females was 2.8% vs. 2.8% (p=0.8), combined death, stroke and myocardial infarction (MI) rate 3.8% vs. 3.9% (p=0.5). Mortality was 0.9% vs. 0.8%; p=0.08). In symptomatic patients after CAS the corresponding rates were 2.7% vs. 2.8% (p=0.6), 4.0 vs. 4.2% (p=1.0) and 0.9% vs. 1.0% (p=0.5). After CEA no gender differences were present when analysis was done separately among patients under or over 75 years of age. After CAS for symptomatic patients < 75 years of age, females had higher combined stroke and death rate than males (2.5% vs. 3.1%;p=0.03). Delay from the index symptom to the procedure was available from 5 countres and alltogether from 25767 CEA patients. Delay was analyzed in 5 cathegories: < 2 days, 2-7 days, 4-14 days, 14 days-6 months and >6 months. Combined stroke and death rates in these 5 groups were in males 4.6%, 2.4%, 2.4%, 2.1% and 1.5% compared to 4.3%, 2.9%, 2.2%, 1.9% and 1.8% in females. In the binary logistic regression analysis, independent risk factors for combined stroke or death were age (OR 1.1/10 years, p=0.000), CAS compared to CEA (OR 1.1, p=0.004) and delay < 2 days (OR 3.1, p=0.000). Gender was not significant risk factor for stroke and/or death (OR 1.04, 95% CI 0.98-1.1, p=0.2). Conclusion: No gender differences were seen in the short-term outcome after CEA. Combined stroke and death rate is higher when CEA is performed less thant 2 days after index symptom in both genders. Disclosure: Nothing to disclose

A rare case of an asymptomatic mesenteric hemangioma: an incidental finding

A 60-year-old female patient presented with incidental finding of duodenal mesenteric hemangioma during the work up for a ventral hernia. Our patient presented at the age of 60-years-old with complaints of a ventral hernia. After initial imaging on CT showed an incidental finding of a mesenteric mass, an MRI confirmed the diagnosis, in this otherwise asymptomatic female. The patient underwent an exploratory laparotomy with complete excision of the mesenteric mass. Final pathology shows findings of a mesenteric hemangioma. The finding of a mesenteric mass requires further investigation. While benign and rare, mesenteric hemangiomas should be considered as a possible differential diagnosis in patients with radiographic evidence of a mesenteric mass, especially if the patient has symptoms of gastrointestinal hemorrhage. The literature on mesenteric hemangiomas is reviewed. Hemangioma of the GI tract mesentery is a rare pathology but should be included in the differential diagnosis in patients presenting with an intraabdominal mass.

The influence of sagittal trunk posture on the magnitude and rate of patellofemoral joint stress during stair ascent in asymptomatic females

Background: Excessive patellofemoral joint stress (PFJS) is thought to be a contributory factor to patellofemoral pain (PFP). Thus, treatment strategies that minimize PFJS rate and magnitude during painful activities like stair ascent may be useful for optimizing outcomes for PFP patients. Sagittal plane trunk posture has been shown to influence PFJS during running although it is unknown if a similar relationship exists during stair ascent. Research Question: Does altering sagittal plane trunk posture affect PFJS rate and/or magnitude during stair ascent? Methods: Twenty asymptomatic females (23.4±2.5 yr; height: 164.4±7.9 cm; mass: 63.0±12.2 kg) performed 5 stair ascent trials (96 steps/min) during 3 conditions: self-selected trunk (SS), flexed trunk (FLX), and extended trunk (EXT). Three-dimensional kinematics (200 Hz) and ground reaction forces (2000 Hz) were collected during each trial. A previously described mathematical model was used to calculate PFJS that included subject-specific and non-subject-specific model inputs. Dependent variables included sagittal plane trunk angle, and the rates and magnitudes of PFJS, patellofemoral joint reaction force (PFJRF), and PFJ contact area during the stance phase of stair ascent. Results: Compared to SS, peak PFJS decreased during FLX (mean difference (MD)=2.6 MPa; p<0.001; 95%CI=2.2 to 2.9; effect size (ES)=5.2) and increased during EXT (MD=-3.3 MPa; p<0.001; 95%CI=-3.9 to -2.6; ES=-3.4). Similarly, PFJS rate decreased during FLX (MD=17.8 MPa/sec; p<0.001; 95%CI=13.6 to 21.9; ES=3.6) and increased during EXT (MD=-14 MPa/sec; 95%CI=-19.4 to -8.7; p<0.001; ES=-2.2). Significance: Sagittal plane trunk posture influences PFJS rate and magnitude during stair ascent in asymptomatic females. Increasing and decreasing forward trunk flexion resulted in decreased and increased PFJS respectively. Future studies should examine the effects of these movement strategy modifications on pain and function in patients with PFP.

Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase-A, which results in accumulation of the glycosphingolipid (GSL) globotriaosylceramide (Gb3). Gb3 and globotriaosylsphingosine (lyso-Gb3) levels in plasma and urine are used routinely for diagnosis and treatment monitoring. FD female patients are problematic to diagnose and to predict when to begin treatment. Further biomarkers are needed to detect pre-symptomatic females that will develop the chronic symptoms associated with FD. A LC-MS/MS glycosphingolipidomic assay was developed to measure lyso-Gb3 and GSLs from the lysosomal GSL degradation pathway, including globoside (Gb4), Gb3, ceramide dihexosides (CDH) and ceramide monohexosides (CMH). We analysed plasma and urine from a cohort of Fabry patients, grouped according to clinical symptoms and independent of treatment status (asymptomatic females n = 18, symptomatic females n = 18, males n = 27 and control urines n = 16 and control plasmas n = 58).Multivariate and subsequent univariate analysis showed urine GSLs which had highest significance in identifying asymptomatic females were total levels of CDH, in particular the long chain isoforms C22:1,C22:0,C22:1-OH,C22:0-OH,C24:2,C24:0,C24:2-OH,C24:1-OH,C24:0-OH,C26:0 which likely represent Galabiosylceramide (Ga2) and not lactosylceramide. These long chain Ga2 isoforms were found to be 5-fold elevated and more statistically significant (p < 0.0001) than plasma lyso-Gb3 (p < 0.01) in identifying asymptomatic Fabry female patients. Receiver operating characteristic curve analysis gave an area under the curve of 0.82 (p = 0.001) for lyso-Gb3 and 0.88 (p = 0.0006) for long-chain CDH isoforms indicating the long chain CDH isoforms were as, if not more, a better biomarker for the identification of female FD patients.

Bacterial Vaginosis in Pregnant Women at Maternal and Child Hospital, West Java, Indonesia, 2018: High Prevalence in Asymptomatic Females

Abstract Bacterial vaginosis (BV) is a lower genital tract infection of reproductive women which can occur in pregnant and non-pregnant women. BV in pregnant women can increase the risk of complications, including increased incidence of abortion, premature rupture of membranes, preterm birth, and babies with low birth weight. BV can also increase the risk of acquired sexually transmitted infection (STI) and their further transmission, including human immuno-deficiency virus (HIV). Each country has a different prevalence of BV. The previous report of BV prevalence in pregnant women was submitted in Jakarta, Indonesia in 1990. Until now, there is no update data of BV in pregnant women, especially in West Java, Indonesia. Thus, we conducted a descriptive observational study using a cross-sectional design and a consecutive sampling method in June 2018. This study included 60 pregnant women in the Maternal and Child Hospital, Bandung, Indonesia. Out of 60 participants, seven (11.67%) participants had BV according to Amsel criteria. Asymptomatic BV was diagnosed in all participants. This study shows the prevalence of BV in pregnant women in the Maternal and Child Hospital in Bandung during June 2018. The assessment of screening BV should be recommended as a routine workup. To avoid complications in pregnant women and infants it should not be waited for the symptoms to reveal.

Establishment of a Gonococcal Antimicrobial Surveillance Programme, in Accordance With World Health Organization Standards, in Côte d'Ivoire, Western Africa, 2014-2017.

Antimicrobial resistance (AMR) in Neisseria gonorrhoeae is compromising the treatment of gonorrhea globally. Recent AMR data are extremely limited in Africa, and mainly totally lacking in Western Africa, including Côte d'Ivoire. This study (i) established a quality-assured gonococcal antimicrobial surveillance program, according to World Health Organization quality criteria, (ii) investigated the AMR to 8 therapeutic antimicrobials in gonococcal isolates from 2014 to 2017, and (iii) provided evidence for updating the National Sexually Transmitted Disease Syndromic Management Guidelines in Côte d'Ivoire. During 2014 to 2017, gonococcal isolates were obtained from sexually active symptomatic or asymptomatic males and females in 14 sites in Côte d'Ivoire. It was a special focus on symptomatic males, and their sexual partners, due to the higher culture positivity rates in symptomatic males. Patient metadata were collected, including age, gender, sexual orientation, and symptoms. Minimum inhibitory concentrations of 8 antimicrobials were determined by Etest and interpreted using European Committee on Antimicrobial Susceptibility Testing breakpoints. β-lactamase production was detected using cefinase disks. The level of resistance, examining 212 gonococcal isolates, was as follows: 84.9% to tetracycline, 68.9% to benzylpenicillin, 62.7% to ciprofloxacin, 6.1% to azithromycin, and 1.4% to gentamicin. All isolates were susceptible to ceftriaxone, cefixime and spectinomycin. We provide the first gonococcal AMR data, quality assured according to World Health Organization standards, from Côte d'Ivoire since more than 20 years. The high ciprofloxacin resistance, which informed a revision of the national syndromic management guideline during study, and relatively high resistance to azithromycin demand an improved gonococcal antimicrobial surveillance program and increased awareness when prescribing treatment in Côte d'Ivoire.

ER\u03b1 PvuII and XbaI polymorphisms in postmenopausal women with posterior tibial tendon dysfunction: a case control study

BackgroundPosterior tibial tendon (PTT) insufficiency is considered as the main cause of adult acquired flat foot and is three times more frequent in females. High estrogen levels exert a positive effect on the overall collagen synthesis in tendons. We have previously demonstrated the association between some genetic single-nucleotide polymorphism (SNP) and tendinopathy. In the present study, we investigated the association of PvuII c454-397T>C (NCBI ID: rs2234693) and XbaI c454-351A>G (NCBI ID: rs9340799) SNPs in estrogen receptor alfa (ER-α) gene with PPT dysfunction.MethodsA total of 92 female subjects with PTT dysfunction, with histopathological examination of the tendon and magnetic resonance image (MRI) evidence of tendinopathy, were compared to 92 asymptomatic females who presented an intact PPT at MRI for PvuII and XbaI SNPs in the ER-α gene. Genomic DNA was extracted from saliva and genotypes were obtained by polymerase chain reaction restriction fragment length polymorphism.ResultsThe analysis of PvuII SNPs showed no significant differences in the frequency of alleles and genotypes between control and PTT dysfunction groups. The XbaI SNPs in the ER-α gene showed significant differences in the frequency of genotypes between control and test groups (p = 0.01; OR 95% 1.14 (0.55–2.33).ConclusionsThe XbaI SNP in the ERα gene may contribute to tendinopathy, and the A/A genotype could be a risk factor for PTT tendinopathy in this population. The PvuII SNP studied was not associated with PTT tendinopathy.

Increased Patellar Volume/Width and Decreased Femoral Trochlear Width Are Associated With Adolescent Patellofemoral Pain

Patellofemoral pain is one of the most common forms of knee arthralgia in adolescent females. Unlike in adults, in whom the etiology of patellofemoral pain is considered to be multifactorial (eg, altered bone shape and musculoskeletal dynamics), the etiology of adolescent patellofemoral pain has been historically attributed to overuse. Although it is highly plausible that adolescent patellofemoral pain results from excessive maltracking, as suggested by recent research, an increase in patellar, relative to femoral, size could also contribute to patellofemoral pain through altered cartilage stresses/strains, resulting in overloading of the subchondral bone. Because the role of bone morphology in the genesis of patellofemoral pain in adolescent females remains largely unknown, research is needed in this area to improve our understanding of patellofemoral pain and advance diagnosis/treatment. (1) Are patellar volume and width increased, and femoral trochlear width decreased, in female adolescents with patellofemoral pain compared with asymptomatic females? (2) Are measures of patellofemoral size correlated with patellofemoral tracking? Twenty adolescent females with patellofemoral pain (age, 13.7 ± 1.3 years) and 20 asymptomatic female control participants (age, 13.6 ± 1.3 years) were enrolled in this case-control institutional review board-approved study. This study focused on a strict definition of patellofemoral pain, peripatellar pain in the absence of other structural pathologic conditions (eg, tendinitis, ligament injury, Osgood-Schlatter disease) or a history of dislocations/trauma. Control participants with no history of patellofemoral pain or other lower extremity pathology were matched for age (within 6 months) and body mass index (within 5 kg/m). Participants self-referred and were recruited through clinicaltrails.gov, printed advertisements, and word of mouth. Three-dimensional (3-D), static, T1-weighted, gradient recalled echo MR images were acquired, from which 3-D patellofemoral models were created. Patellar volume and width, patellar-to-femoral volume and width ratios, and femoral trochlear width were compared across cohorts. In addition, 3-D patellofemoral tracking was quantified from dynamic MR images captured during cyclical flexion-extension volitional movements of the lower extremity. The size measures and ratios were correlated to patellofemoral tracking. Compared with control participants, the cohort with patellofemoral pain had greater patellar volume (13,792 ± 2256 versus 11,930 ± 1902 mm; 95% confidence interval [CI], 1336 mm; p = 0.004; d = 0.89) and width (38.4 ± 3.0 versus 36.5 ± 2.7 mm; 95% CI, 1.8 mm; p = 0.021; d = 0.67). The femoral trochlear width was smaller (32.0 ± 1.8 versus 32.9 ± 1.8 mm; p = 0.043, d = 0.54). The patellar-to-femoral volume ratio and the patellar-to-trochlear width ratio were greater in adolescents with patellofemoral pain (0.15 ± 0.02 versus 0.13 ± 0.01, p = 0.006, d = 0.83 and 1.20 ± 0.09 versus 1.11 ± 0.09, p = 0.001, d = 1.02). No correlations were found between patellar size and patellofemoral tracking (r < 0.375, p > 0.103). In adolescent females with patellofemoral pain, the increased patellar volume/width and patellar-to-trochlear width ratio, along with the decreased femoral trochlear width, may initiate a pathway to pain through improper engagement of the patella within the femoral trochlea. Specifically, the mean differences between cohorts in patellar and femoral trochlear width (1.9 mm and 0.9 mm) are 58% and 37% of the mean patellar and femoral cartilage thickness in females, respectively, as reported in the literature. Further studies are needed to fully elucidate the mechanism of pain. Level III, prognostic study.

Hip Taping Positively Alters Running Kinematics in Asymptomatic Females.

Greater functional knee valgus (FKV) is thought to contribute to a greater risk of sustaining overuse running injuries. The hip is commonly implicated in greater functional knee valgus, but no studies have investigated the effects of hip taping on running kinematics. The present study investigated whether or not hip taping altered hip and knee kinematics compared to sham and no taping in female runners demonstrating excessive functional knee valgus. Lower limb stance-phase kinematics were collected from 23 female runners using three-dimensional motion capture. Participants performed over ground running at 3.5 m/s and 5.0 m/s. Three taping conditions (no tape; sham tape; hip tape) were tested. Statistical inference was performed using Statistical Parametric Mapping Hotelling's paired t-tests, with post-hoc paired t-tests. Hip taping significantly decreased hip adduction and internal rotation angles throughout stance phase by up to 7°, compared to sham and no taping. Hip taping significantly increased knee adduction, internal rotation, flexion, and reduced peak knee flexion angles, compared to no tape. Hip taping reduced excessive hip motion by clinically meaningful magnitudes, and also benefited knee frontal and transverse plane kinematics at the slower running speed. Hip taping may provide an immediate solution in correcting FKV in running.

Mother to Child Transmission of Hepatitis C Virus in Asymptomatic HIV Seronegative Pregnant Females of Malwa Region of Punjab (North India)

Background: Study reports on the transmission of HCV infection from mother to child are limited in India and almost lacking from Punjab (Malwa region), where the infection is reported to be on the rise.Â

PO-498 Spliced RNA panels from tumor-educated platelets (TEP) enable detection of early breast cancer

IntroductionDetection of early-stage breast cancer from blood is a highly desirable screening application of liquid biopsies. Tumor-educated platelets (TEP) contain distinct spliced RNA repertoires and can function as a blood-based biosource for the detection of cancer (Best et al. Cancer Cell 2015). Here, we investigated the potential of TEP RNA profiles as an early breast cancer diagnostics algorithm.Material and methodsWe sequenced platelets of women with stage I-III breast cancer (n=134) and asymptomatic non-cancer females (n=121). Samples were divided over a training, evaluation and validation set. We developed a TEP RNA-based classification algorithm, which was tailored towards two clinically relevant diagnostic applications. The first application is to rule out breast cancer in women with an abnormal mammography. The second application is to rule in breast cancer in asymptomatic women carrying an elevated baseline breast cancer risk. We examined if classifications depended on patient age, tumour stage, subtype, BRCA mutation status, and breast density. In addition, we tested if the algorithm was breast cancer specific by testing our algorithm in a pan-cancer cohort (n=192).Results and discussionsIn the evaluation cohort (n=48 of which n=24 early breast cancer cases) the TEP RNA-based breast cancer classification had an accuracy of 90% with an AUC of 0.96 (95% confidence interval (CI) 0.92–1.00; p<0.001). In the validation cohort, the TEP RNA-based classification algorithm reached an overall accuracy of 86% and an AUC of 0.93 (95% CI 0.89–0.98, p<0.001). Most important, the accuracy was 91% in stage I/II disease. In a confirmatory rule-out application (positive mammography) sensitivity would be 94% with a specificity of 67%; whereas in a screening setting sensitivity would be 80% with a specificity of 93%. The classifier performance is consistent across subgroups based on patient age, tumour stage, subtype, tissue density, or BRCA1/2-status. The breast cancer TEP profiles were distinct from those of women with other tumour types (n=192, accuracy: 87%, AUC: 0.91, 95% CI 0.87–0.96, p<0.001). Although results look promising, sensitivity and specificity should be improved for clinical implementation. Follow-up studies should, among others, require sample collection in actual screening and confirmatory settings.ConclusionWe show that platelet RNA signatures may enable blood-based screening for early breast cancer, and warrant validation in a confirmatory and screening setting.

Different cutoffs of the reflux finding score for diagnosing laryngopharyngeal reflux disease should be used for different genders

Objectives: To assess the differences in Reflux Finding Score (RFS) between the genders and determine the suitable RFS threshold for diagnosing laryngopharyngeal reflux disease (LPRD) in each gender.Methods: Asymptomatic volunteers and patients with LPRD, confirmed with an oropharyngeal Dx-pH monitoring system, were included. All study subjects underwent transnasal flexible fiber-optic video laryngoscopy. Reliability was assessed with intra-class correlation coefficients (ICCs) and Bland-Altman plots. The RFS cutoffs for determining the presence and absence of LPRD between the two genders were examined by receiver operating characteristic (ROC) analysis.Results: One hundred seven asymptomatic volunteers and fifty-five LPRD patients were recruited. The mean RFS for LPRD subjects (9.4 ± 3.2) was significantly higher than that for control subjects (7.1 ± 2.6; p < 0.001). The mean RFS for asymptomatic females (6.1 ± 2.7) was significantly lower than that for males (7.7 ± 2.5; p < 0.001). The mean RFS for female subjects with LPRD (7.8 ± 2.6) was lower than that for males (11.0 ± 2.8; p < 0.001). According to ROC analysis, the best cutoffs were 9.0 for males and 6.0 for females.Conclusions: There was a significant difference in the RFS cutoff between the genders. For male subjects, we recommend a cutoff of 9.0 for diagnosing LPRD, and for female subjects, we recommend a cutoff of 6.0.

Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings

Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients are diagnosed in late adolescence or early adulthood. Determining the diagnosis of IHH in prepubertal patients can be challenging. Making a timely, correct diagnosis has important clinical implications. Here we aimed to identify the genetic cause of IHH in three prepubertal siblings from a Chinese Han family and give appropriate treatment advice. Using whole exome sequencing (WES), we identified a novel homozygous GNRHR mutation (NM_000406; c.364C>T, p.L122F) in two prepubertal boys with cryptorchidism and micropenis. Sanger sequencing showed that their younger asymptomatic sister also had the homozygous GNRHR mutation. This mutation was inherited from the father and the mother. Immunofluorescence analysis showed that in permeabilized cells, expression of the mutant receptor on the cell membrane was significantly lower than that of wild-type. Calcium mobilization assays demonstrated that c.364C>T in the GNRHR gene is a complete loss-of-function mutation that caused IHH. These results may contribute to the genetic diagnosis of the three prepubertal siblings with IHH. According to this diagnosis, timely hormonal treatment can be given for the three prepubertal patients to induce pubertal development, especially for the asymptomatic female.

Impingement-free Hip Range of Motion in Asymptomatic Young Adult Females

Background: Femoroacetabular impingement is a recognized cause of early hip osteoarthritis. This is attributed to either a cam impingement caused by a non-spherical head or a pincer impingement caused by excessive acetabular coverage. Although many surgical techniques aim to improve hip range of motion, little normative data exist on dynamic impingement-free hip range of motion (ROM) in asymptomatic individuals. Hip ultrasound can effectively …

Impingement-free Hip Range of Motion in Asymptomatic Young Adult Females

Impingement-free Hip Range of Motion in Asymptomatic Young Adult Females