Requests For Screening Research Articles

259 Open Access Colon Cancer Screening With Optical and Virtual Colonoscopy

INTRODUCTION: Despite proven efficacy in improving mortality from colorectal cancer (CRC), CRC screening remains underutilized in the U.S. with nearly 1/3 of eligible patients not screened. Open access colonoscopy (OAC) allows for patients at low-risk for endoscopic complications to receive a colonoscopy without a pre-procedural visit. Although the ASGE has published guidelines on enacting an OAC program, there has been little published on the yield of such a program. METHODS: At Walter Reed National Military Medical Center, we enacted an OAC program in 2014. Patients due for CRC screening or surveillance can arrange a procedure by an online form. Our schedulers' review all forms, and patients reporting concerning symptoms, sedation limiting comorbidities, or who are age < 45 or > 75 have a clinic visit prior to their procedure. The remainder of patients have their forms reviewed by a gastroenterologist for suitability and are scheduled for colonoscopy or computed tomographic colonography (CTC). RESULTS: Prior to expanding Walter Reed's OAC program to other military hospitals in the NCR, 10,676 total screening requests were made. 48.7% were male, 53.4% were Caucasian, 18.0% were African American. The requested screening method was CTC in 19.1% of submitted forms. Of patients who fell outside the 45–75 age range, 11.4% were under the age of 45, and 1.2% were over the age of 75. Half of the patients using the OAC program had a previous screening exam, and a total of 12.7% reported a family history of CRC. Since incorporating other military hospitals in the NCR, 2,882 screening forms have been completed: 33.6% were male, 35.1% were Caucasian, 14.6% were African American, 14.9% requested a CTC, 5.1% were under the age of 45, 1.0% were over the age of 75, 33.3% had a previous screening, and 9.2% had a family history of CRC. Prior to incorporating the NCR, 20.4% of patients were referred for a clinic visit based on answers in their form, and another 6.0% were referred for a clinic visit after provider review. After the incorporation, 16.4% were referred for a clinic visit. CONCLUSION: By avoiding unnecessary clinic visits for patients needing a colonoscopy, OAC programs reduce wait times for colonoscopies and increase availability in gastroenterology practices to see symptomatic patients. Our program in a single payer model, analyzed across two different catchments, shows that over 80% of pre-procedural visits can be avoided by using a questionnaire.

Regional Planning Model for Cancer Screening with Imperfect Patient Adherence

The effectiveness of cancer screening and adherence to cancer screening guidelines can be inhibited by long wait times for screening appointments. In this article, the authors develop a queueing network model of screening for a disease within a population of patients with imperfect adherence to screening guidelines to characterize the relationship between the screening request frequency rate and the wait time for screens. They first use their model to derive the capacity needed by a given system or the population size a given system can serve to guarantee a certain service level, and then analyze routine screening for average-risk patients as well as the additional capacity required for diagnostic screening and surveillance of high-risk patients. Finally, the authors perform a numerical study using national public health data for colorectal cancer (CRC) screening in the United States and provide insights for public health officials, providers, and policy makers, showing how queueing models can be applied to regional planning decisions for determining CRC screening capacity requirements.

Imaging of Rectal Carcinoma at Surveillance

Background: Among communicable and non-communicable diseases, neoplastic diseases are the 6th leading cause of death in Bangladesh. Hospital-based cancer registries in Bangladesh reveal more than 50% of subjects with neoplastic disease (cancer) are estimated to be within 30 to 65 years of age.Objective: To observe imaging findings in patient with rectal carcinoma in terms of no residual disease, post treatment fibrosis, residual disease, loco-regional recurrence and metastasis at surveillance by CT, MR scan.Methodology: CT and MRI scan was performed with standard protocol among 64 subjects (both males, females) over a period of one year at department of Radiology and Imaging, KYAMCH who came for follow up. The study subjects were referred from Department of Oncology of same institution.Result: Among total 64 patients majority were female (54.68%) and rest were male (45.32%) and mean age was 51.38 (± 22.86) years. Most (26.56%) of the patients were in 31-40 years age group. CT scan was performed in 81.25% and MRI in 31.25% patients. No recurrence was observed to surveillance imaging in 18.75% patients. Post treatment fibrosis were seen in 23.43% and locoregional recurrence in 20.31% subjects. Local extension (35.93%), lymphadenopathy (43.75%) and distant metastases (26.56%) were observed. Associated imaging findings other than tumour recurrence or extension were ischaemic colitis (10.93%), perforation (4.68%), rectovesical fistula (3.12%), rectouterine fistula (1.56%) and rectovaginal fistula (6.25%). Other than loco regional extension, distant metastases were observed in liver (14.06%), lung (10.94%), bone (6.25%) and brain (4.68%).Conclusion: This study reveals that during image analysis of patients with rectal carcinoma, radiologists should carefully distinguish post treatment fibrosis from local recurrence, check the locoregional areas, possible sites for metastasis and oncologist should request for screening of chest including lower part of neck at the time imaging of abdomen at follow up.KYAMC Journal Vol. 9, No.-3, October 2018, Page 104-109

Usefulness of the ARCHITECT Chagas® assay as a single test for the diagnosis of chronic Chagas disease.

Imported Chagas disease (CD) is an emerging health problem in Europe due to immigration from endemic countries. Although WHO currently recommends two different serological methods to establish diagnosis, new tools like the ARCHITECT Chagas assay have potential for use as a single diagnostic test. Our objective was to determine an optimal signal-to-cut-off (S/CO) value for the ARCHITECT Chagas assay to diagnose CD with a single test. A retrospective study conducted at the 12 de Octubre University Hospital (Madrid, Spain). All patients with requests for Chagas screening between January 2014 and August 2017 were consecutively included. All samples were routinely tested with the ARCHITECT assay. Negative samples (S/CO<0.8) required no further testing. Immunochromatographic testing (ICT) and/or indirect immunofluorescence (IFI) was used to confirm samples with S/CO≥0.8. Receiver operator characteristic (ROC) curve analysis determined the ARCHITECT S/CO value that yielded 100% specificity and positive predictive value. SPSS software, version 22.0 was used for data analysis. A total of 4153 samples were analysed; 361 (8.69%) gave a reactive ARCHITECT Chagas result. 261/361 (72.3%) were women; median age was 38years old (2-79). 92.8% were Bolivian. A total of 307 (85.0%) were confirmed as cases of Chagas; 52 (14.4%) were not infected; two (0.6%) were not evaluable. Seroprevalence was 7.39%. An S/CO≥3.80 yielded 100% specificity (95% confidence interval [CI], 0.93-1.00) and 100% positive predictive value (95% CI, 0.99-1.00). Using S/CO≥3.80, the ARCHITECT Chagas could be used as a single test for diagnosis of chronic CD in Bolivian immigrants. Patients with S/CO between 0.80 and 3.80 would require additional testing.

Change in frequency of patient requests for diagnostic screening and interventions during primary care encounters from 1985 to 2014.

The reason why patients contact a care provider, the reason for encounter (RFE), reflects patients' personal needs and expectations regarding medical care. RFEs can be symptoms or complaints, but can also be requests for diagnostic or therapeutic interventions. Over the past 30 years, we aim to analyse the frequency with which patients consult a GP to request an intervention, and to analyse the impact of these requests on the subsequent diagnostic process. We included all patients with a request for diagnostics, medication prescription or referral from 1985 to 2014. We analysed the number of requests, granted requests and interventions originating from a request. We compared the final diagnosis (symptom or disease diagnosis) between patients with and without a request. This is a retrospective cohort study with data from Family Medicine Network, a Dutch primary healthcare registration network. Over time, patients more often present to their GP with a request for intervention. GPs are increasingly compliant with these requests. Patients presenting with a request for intervention are more likely to be diagnosed with a symptom rather than a disease. This study provides insight into the changes in patients' and GPs' behaviour and patients' influence on the medical process, and confirms the clinical relevance of the RFE. This study could support GPs in daily practice when deciding whether or not to grant a request.

Cribado del cáncer de próstata mediante antígeno prostático específico: perspectiva del médico en atención primaria y en el laboratorio clínico

IntroductionIt is currently recommended to provide individualised information on benefit-risk balance and shared decision-making in prostate cancer screening using prostate-specific antigen (PSA). AimTo determine the usual practice and the views of general and laboratory practitioners in the screening of prostate cancer using PSA. Material and methodsA cross-sectional study based on a questionnaire and on PSA screening requests from Primary Health Care (PHC) in men older than 49 years with no prostatic symptoms. ResultsIn 2015, PHC in Catalonia requested PSA on 15.2% of males. A total of 114 general practitioners and 227 laboratory practitioners participated in the questionnaire. The mean age of those who responded was 43 years with a mean of 17 years’ experience, and included 64% women. According to general practitioners, 61% of PSA was performed at the patient's request. The uncertainty score when requesting PSA was 5 points for general practitioners and 5.7 for laboratory professionals. Interest in having clinical recommendations received 7.2 points in PHC, and 8.8 in the laboratory. Knowledge about the different clinical practice guidelines received was less than 5 points overall. ConclusionsGeneral practitioners requested PSA screening in almost one-sixth of men over the age of 49 without prostate disease, often at the patient's request, and after informing them of the benefits and risks. PHC and laboratory physicians were interested in having recommendations and information, although they did not usually consult clinical practice guidelines immediately.

Positivity of antineutrophil cytoplasmic antibodies in children: prevalence and etiologies

In adults, anti-neutrophil cytoplasmic antibodies (ANCA) are considered as serological markers of several diseases, especially vasculitis and glomerulonephritis. Since ANCA are rarely positive in children, few data about the clinical relevance of these auto-antibodies in pediatric population have been reported. Therefore, our study aims to describe the spectrum of disorders associated with positive ANCA in Tunisian children. This study had been carried out over a period of 12 years and a half. All patients under the age of 15 for whom ANCA screening was performed in our laboratory were included. Clinical data were collected retrospectively. Indirect immunofluorescence (IFI) technique for ANCA detection was performed using PNN smears fixed with ethanol, formalin and, if necessary, methanol. Positive results were tested using immunodot to characterize the antigenic targets (myeloperoxydase (MPO) and proteinase 3 (PR3)). Our results showed that 410/5,990 (6.8%) laboratory requests for ANCA screening were for children. Forty (9.7%) requests were positive (24 children). Clinical data were available for 19 patients only. Sex-ratio (F/M) was 1.25. The mean age was 9 years and a half (3-15 years). The most frequent IIF patterns were x-ANCA (n=12) and p-ANCA (n=7). In our patients, the most frequent conditions associated to ANCA were treatment with benzylthiouracil for hypothyroidism (n=6), inflammatory bowel disease (n=4) and hemolytic anemia (n=4). In conclusion, the positivity of ANCA in children seems to be a rare event. Associated conditions include clinical disorders specific to the pediatric population. Treatment with benzylthiouracil is an etiology to be taken into consideration.

Electronic Prompts Can Reduce The Number Of Unnecessary Clotting Screens Ordered For Patients

In an attempt to reduce the number of inappropriate clotting screens being performed in our Trust, an electronic prompt was introduced to our haematology requesting system. Over the six month period after introduction of this prompt the number of clotting screen requests reduced by 7001, representing a 21% reduction when compared to the same 6 month period one year earlier. This represented a cost saving of over £98,000 without any increase in adverse incidents being reported related to bleeding complications.

A Qualitative Analysis of Adolescent and Caregiver Acceptability of Universally Offered Gonorrhea and Chlamydia Screening in the Pediatric Emergency Department

We qualitatively explore adolescent and parent or guardian attitudes about benefits and barriers to universally offered gonorrhea and chlamydia screening and modalities for assessing interest in screening in the pediatric emergency department (ED). A convenience sample of forty 14- to 21-year-olds and parents or guardians of adolescents presenting toan urban and community pediatric ED with any chief complaint participated in individual, semistructured, confidential interviews. Topics included support of universally offered gonorrhea and chlamydia screening, barriers and benefits to screening, and modalities for assessing interest in screening. Data were analyzed with framework analysis. Almost all adolescents (37/40; 93%) and parents (39/40; 98%) support offering ED gonorrhea or chlamydia screening. Benefits included earlier diagnosis and treatment, convenience and transmission prevention (cited by both groups), and improved education and long-term health (cited by parents/guardians). Barriers included concerns about confidentiality and cost (cited by both groups), embarrassment (cited by adolescents), and nondisclosure to parents or guardians (cited by parents/guardians). Adolescents preferred that the request for gonorrhea or chlamydia screening be presented in a private room, using tablet technology. Both groups noted that the advantages to tablets included confidentiality and adolescents' familiarity with technology. Adolescents noted that tablet use would address concerns about bringing up gonorrhea or chlamydia screening with clinicians, whereas parents or guardians noted that tablets might increase screening incidence but expressed concern about the lack of personal interaction. Universally offered gonorrhea and chlamydia screening in a pediatric ED was acceptable to the adolescents and parents or guardians in this study. Offering a tablet-based method to assess interest in screening may increase participation.

Primary Care Perspectives on Hepatitis C Virus Screening, Diagnosis and Linking Patients to Appropriate Care

Enormous progress has been made in recent years toward effectively treating and curing patients with chronic hepatitis C (CHC). However, at least half of the possible 7 million individuals infected with hepatitis C virus (HCV) in the US remain undiagnosed. The formidable task of increasing the number of patients diagnosed, and subsequently linked to appropriate care has fallen to primary care clinicians, who are mandated by some US States to offer screening to individuals born between 1945 and 1965 (the Baby Boomer Generation). This peer-reviewed video roundtable discussion http://hepcresource.amjmed.com/Content/jplayer/video_roundtable.html#video0 addresses the challenges encountered by primary care clinicians faced with the increasing societal need to screen for HCV, make appropriate diagnoses, and subsequently link infected patients to appropriate care. Discussion in this roundtable initially focuses on the offering of HCV screening to patients in primary care settings. Roundtable participants discuss the need for primary care clinicians to ask appropriate risk factor-based questions of their patients, especially if the ongoing HCV epidemic is to be curtailed. The participants note, however, that the majority of patients currently infected with HCV in the US are Baby Boomers, and USPTF guidelines require this population to be tested for HCV regardless of any past risk-taking behaviors. So while asking the right questions is important, the failure of a Baby Boomer to recall risk-taking behavior does not preclude HCV screening. In fact, clinicians should proactively screen all persons in this birth cohort, and be more sensitive and open to screening requests from these individuals. Roundtable participants also discuss how HCV screening results should be communicated to patients, and how physicians can keep patients engaged and not lost to follow-up after an initial positive HCV antibody test. Patients screened and found to be HCV antibody positive require a follow-up HCV RNA test, and every effort must be made to overcome the challenge of losing patients between these two steps. Good communication between the physician, the physician's office staff, and the patient is necessary. In addition, point-of-care tests and PCR reflex testing can alleviate the need for HCV antibody positive patients to arrange subsequent office visits to undergo confirmatory HCV RNA testing.Physician and patient perspectives are presented throughout this roundtable discussion to obtain a complete picture of the management barriers encountered prior to initiation of therapy. Physician perspectives are provided by Edward Lebovics, the Upham Professor of Gastroenterology and Director of the Sarah C. Upham Division of Gastroenterology and Hepatobiliary Diseases at New York Medical College and Westchester Medical Center in Valhalla, New York, and Richard Torres, Chief Medical Officer at Optimus Health Care and an Associate Professor of Medicine at Yale School of Medicine. Torres has been a primary care provider for 29 years, working at the largest federally qualified community health center in Southwestern CT, which provides over 240,000 patient visits annually primarily to populations that are underserved and suffering from healthcare disparities. Patient perspectives in this roundtable are provided by Lucinda K. Porter, RN, who is the author of two books for hepatitis C patients, and is a former hepatology nurse and hepatitis C patient. She has been advocating for others since 1997, and writes for the HCV Advocate. Lucinda is a contributing editor of HEP magazine, and she blogs at www.LucindaPorterRN.com.The overall goal of this video roundtable discussion is to demonstrate that when provided with appropriate clinical knowledge, and aided by supportive collaborations with appropriate specialists, primary care clinicians should be able to effectively screen, diagnose, and link patients with hepatitis C to appropriate care. While patients need to be educated on the possible outcomes of a positive HCV antibody test, the significance of a positive HCV RNA test, and how to prevent further transmission, they should also be assured that currently available therapies have dramatically increased the chances of being cured. Appropriate education and the availability of excellent treatment options will hopefully quell fears and increase the morale of patients as they navigate the process of HCV screening and diagnosis.

Early detection of breast cancer in Brazil: data from the National Health Survey, 2013.

ABSTRACTOBJECTIVE To analyze whether the actions of early detection of breast cancer, initiated with the medical request for mammography, differ between users of the Brazilian Unified Health System (SUS) and those who have private health insurance.METHODS From the data collected in the National Health Survey, we estimated the proportions of women who had medical request for mammography according to presence or absence of private health insurance. For assessing the factors related to having mammography medical request, we estimated crude and adjusted odds ratios and respective 95%CI by logistic regression. We also analyzed the main reasons reported for not having performed mammography after medical request, as well as the time between examination and result.RESULTS Of the women interviewed, 66.7% had a medical request for mammography (59.4% among SUS users and 83.9% among those with private health insurance). Having private health insurance, higher education level, and being white were positively associated with having the medical request. Only 5.4% (95%CI 4.8–6.0) of women who received medical request failed to perform mammography – 7.6% were SUS users and 1.7% had health insurance. The most reported reasons for not being able to perform the examination were: not thinking it was necessary; having the test scheduled, but not yet performed; and not being able to schedule it. More than 70% of women received the result with less than one month from its execution.CONCLUSIONS The barriers to access a medical request for mammographic screening for breast cancer are higher among women who depend exclusively on SUS.

Screening for Circulating Tumour Cells Allows Early Detection of Cancer and Monitoring of Treatment Effectiveness: An Observational Study

Background:Circulating-Tumour-Cells (CTC) provide a blood biomarker for early carcinogenesis, cancer progression and treatment effectiveness. An increase in CTCs is associated with cancer progression, a CTC decrease with cancer containment or remission. Several technologies have been developed to identify CTC, including the validated Isolation-by-Size-of-Epithelial-Tumour (ISET, Rarecells) technology, combining blood filtration and microscopy using standard histo-pathological criteria.Methods:This observational study compared CTC count to cancer status and cancer risk, by monitoring treatment effectiveness in cancer patients and by screening for CTC in asymptomatic patients with risk factors, including family history of cancer.Results:Between Sept-2014 and Dec-2016 we undertook 600 CTC tests (542 patients), including 50% screening requests of patients without cancer diagnosis but with risk factors. CTC were detected in all cancer patients (n=277, 100%), and in half of the asymptomatic patients screened (50%, 132 out-of 265 patients). Follow-up tests including scans, scheduled within 1-10 months of positive CTC tests, found early cancerous lesions in 20% of screened patients. In 50% of male patients with CTC and normal PSA (prostate-specific-antigen) levels, PSMA-PET scans revealed increased uptake in the prostate, indicative of early prostate cancer. Other types of cancers detected by CTC screening and subsequent scans included early breast, ovarian, lung, or renal cancer. Patients with CTC were advised on integrative approaches including immune-stimulating and anti-carcinogenic nutritional therapies. CTC repeat tests were available in 10% of patients with detected CTC (40 out-of 409 patients, n=98 CTC tests) to assess treatment effectiveness, suggesting nutritional therapies to be beneficial in reducing CTC count.Conclusions:CTC screening provided a highly sensitive biomarker for the early detection of cancer, with higher CTC counts being associated with higher risk of malignancy. CTC monitoring over time indicated treatment effectiveness. Nutrients with anti-carcinogenic properties could reduce CTC count, and included curcumin, garlic, green tea, grape seed, modified citrus pectin, and medicinal mushroom extract.

Screening for Circulating Tumour Cells Allows Early Detection of Cancer and Monitoring of Treatment Effectiveness: An Observational Study

Background: Circulating-Tumour-Cells (CTC) provide a blood biomarker for early carcinogenesis, cancer progression and treatment effectiveness. An increase in CTCs is associated with cancer progression, a CTC decrease with cancer containment or remission. Several technologies have been developed to identify CTC, including the validated Isolation-by-Size-of-Epithelial-Tumour (ISET, Rarecells) technology, combining blood filtration and microscopy using standard histo-pathological criteria. Methods: This study compared CTC count to cancer status and cancer risk, by monitoring treatment effectiveness in cancer patients and by screening for CTC in asymptomatic patients with risk factors, including family history of cancer. Results: Between Sept-2014 and Dec-2016 we undertook 600 CTC tests (542 patients), including 50% screening requests of patients without cancer diagnosis but with risk factors. CTC were detected in all cancer patients (n=277, 100%), and in half of the asymptomatic patients screened (50%, 132 out of 265 patients). Follow-up tests including scans were scheduled within 1-6 months of CTC tests. In up to 50% of male patients with normal PSA (prostatespecific- antigen) levels but detected CTC, PET scans using PSMA (Ga-68-prostate-specific-membrane-antigens) revealed increased uptake in the prostate, indicative of early prostate cancer. Other types of cancer, including early breast, ovarian, lung, or renal cancer were detected in a small number of asymptomatic men or women with a positive CTC count. A subgroup of patients with detected CTC underwent interventions, including nutritional therapy with immunestimulating and anti-carcinogenic nutrients. CTC repeat tests were available in 10% of patients with detected CTC (40 out of 409 patients, n=98 CTC tests) to assess treatment effectiveness. Conclusion: CTC screening provided a highly sensitive biomarker for the early detection of cancer, with higher CTC counts being associated with higher risk of malignancy. CTC monitoring over time indicated treatment effectiveness. Nutrients with anti-carcinogenic properties could reduce CTC count, and included curcumin, garlic, green tea, grape seed, modified-citrus-pectin, and medicinal mushroom-extract.

S07.3 Facilitating sexual health: why do 12–16 year olds attend a rural sexual health clinic?

Introduction Chlamydia is the most commonly diagnosed bacterial STI in Australia and is asymptomatic in approximately 80% of people. If untreated, potential consequences include pelvic inflammatory disease, ectopic pregnancy and infertility. Those experiencing recurrent infections are more likely to experience these unwanted complications, and as such consideration must be given to those who are very young when first infected. Methods In 2014 we undertook a retrospective audit at a rural sexual health service to determine what proportion of patients attending the clinic were aged 12–16 years, tested for and infected with chlamydia and their reasons for attending the clinic. Results There were 595 consultations for patients aged 12–16 years during the study period, with a total of 111 individual patients attending the clinic, 104 (95%) were female. 194 chlamydia tests were conducted with the proportion of individual patients having at least one test per year being 100% in 2011, 81% in 2012, 72% in 2013 and 78% in 2014. There was no difference in the proportion tested by age over the study period (p = 0.59). 46 tests were positive for chlamydia (23.7%; 95% CI: 17.8%, 30.9%) with the proportion decreasing with increasing age from 46.7% (95% CI: 16.4%, 79.5%) in those aged 12 or 13 years to 15.5% (95% CI: 9.4%, 24.2%) in those age 16 years (p = 0.02). The reasons for attending the clinic when a chlamydia test was ordered included i) pregnancy testing, request for emergency contraception and/or termination of pregnancy (18.3%, 34/185), ii) symptoms of anything (16.7%, 31/185), iii) a request for STI screening or treatment (32.4%, 60/185) and presenting for contraception (32.4%, 60/185). Only 29.7% (33/111) of these patients would have tested for chlamydia if symptoms or requesting a screen were the only reasons a test was ordered. Conclusion Consideration should be given to amending the current chlamydia screening recommendation to annual screening of any sexually active person under 29 years. Conflict of interest None declared.

Anal Cancer Screening in an Urban HIV Clinic: Provider Perceptions and Practice.

In this article, we sought to understand the perceptions and practice of providers on anal cancer screening in HIV-infected patients. Providers in an academic outpatient HIV practice were surveyed. Data were analyzed to determine the acceptability and perceptions of providers on anal Papanicolaou tests. Survey response rate was 55.3% (60.7% among male and 47.4% among female providers). One-third of the providers had received screening requests from patients. Female providers had higher self-rated comfort with anal Papanicolaou tests, with a mean score of 7.1 (95% confidence interval [CI] 4.7-9.5) compared to 3.6 (95% CI 1.5-5.7) for male providers, P = .02. Sixty-seven percent of male providers and 37.5% of female providers would like to refer their patients for screening rather than perform the test themselves. Only 54.2% of our providers have ever performed anal cytology examination. Our survey revealed that not all providers were comfortable performing anal cancer screening for their patients.

Dysmorphology services: a snapshot of current practices and a vision for the future.

Dysmorphology concerns the recognition and management of rare, multiple anomaly syndromes. Genomic technologies and software for gestalt recognition will re-shape dysmorphology services. In order to reflect on a model of the service in the post-genomic era, we compared the utility of dysmorphology consultations in two Mediterranean cities, Athens, Greece and Afula, Israel (MDS), the Manchester Centre for Genomic Medicine, a UK service with dysmorphology expertise (UKDS) and the DYSCERNE, digital service (DDS). We show that it is more likely that chromosome microarray analysis will be performed if suggested in the UKDS rather than in the MDS; this, most probably reflects the difference of access to genetic testing following funding limitations in the MDS. We also show that in terms of achieved diagnosis, the first visit to a dysmorphology clinic is more significant than a follow-up. We show that a confirmed syndrome diagnosis significantly decreases the requests for other, non-genetic, laboratory investigations. Conversely, it increases the requests for reviews by other specialists and, most significantly (t-test: 8.244), it increases further requests for screening for possible associated complications. This is the first demonstration of the demands, on a health service, following the diagnosis of a dysmorphic condition.

Antenatal thalassaemia screening – determining the appropriate mean corpuscular volume (MCV) cut-off for excluding alpha thalassaemia

Background and aim Thalassaemia trait cannot be unequivocally excluded based on MCV > 80 fL alone, and screening laboratories may issue comments such as ‘alpha thalassaemia trait/normal A2 beta thal trait cannot be excluded’. This causes downstream logistic issues particularly in the management of antenatal patients. We undertook a pilot study to assess if liberally investigating those patients and their partners with MCV between 80-86 fL would capture any additional at-risk pregnancies. Method A 1 year retrospective analysis of antenatal thalassaemia screening requests is performed. When stated, partners are included for analysis. Genetic testing results are reviewed for couples electing to proceed with genetic testing. Results and discussion In total, 634 females were screened; 45% of whom had MCV values between 80–86 fL. Partners of this cohort were invited for screening, with 47% ( n = 137) screened. Genetic testing proceeded in only 3 couples – two where the male partners had heterozygous HbE with low HbVar%. One couple gave the history of a previously affected child. None required prenatal diagnosis or other intervention. Conclusion Permissive screening of antenatal women with MCV up to 86 fL results in minimal impact in terms of genetic testing or clinical outcome. Routine screening of male partners is more effective for risk assessment.

English

OBJECTIVE: To evaluate the incidence of TORCH infections in women having history of pregnancy loss and women with high delivery risk factors (HDRF) in tertiary care hospital. Duration: A prospective study was conducted over a period of one year from January 2013 to December2013. METHODS: The study included 100 women with HDRF and 50 clinically normal women with previous normal pregnancy and full term deliveries. Serological evaluation for TORCH infections was carried out by IgG and IgM ELISA method. RESULTS: The acronym TORCH (Toxoplasma, Other infections, Rubella, Cytomegalovirus, Herpes simplex virus) was introduced to highlight a group of agents which cause congenital and perinatal infections. The prevalence of TORCH infections in tertiary care hospital was studied over a period of one year. Since majority of congenital infections result from maternal infections during pregnancy, it was essential to evaluate the incidence of maternal infection like TORCH in child bearing age group. The present study showed toxoplasmosis was with a high risk seropositivity rate of 41%, followed by 27% seropositivity for Cytomegalovirus (CMV) .Rubella infections still occur each year and it occurred in 18 % cases while Herpes simplex virus infection was comparatively low seen only in 14% cases among women of child- bearing age. But unfortunately the request for TORCH screening has been ignored and clinicians should be encouraged to send appropriate specimens for specific tests depending on the clinical features of the individual case so as to reduce the adverse fetal outcome.

Late presenters (LP) in the last 3 years in the anti-AIDS center of Cluj, Romania

Objectives. In Europe 50% are late presenters (LP). In a previous study we showed that between 2000-2010 LP represented two thirds of cases and the main transmission route was sexually, with 5% in men who have sex with men (MSM). We proposed to analyze the epidemiologic, clinic and therapeutic issues of late presenters in the last three years and to compare with the previous study. Our center is monitoring about 330 HIV patients. We performed a retrospective study of the medical records of 113 HIV newly infected adults, admitted in the Infectious Disease Clinic of Cluj between 01.01.2011-30.06.2013. The patients were divided in two samples: sample I as LP and sample II with CD4 cells count more than 350/cmm. Fisher’s exact test was used for statistical analysis: p<0.05 was considered significant. There were 64 patients (56%) LP and 49 (44%) in sample II. The average age was 37/34 years, sexually transmitted in 56/48, MSM 16/18, (33% MSM in LP), males 43/42, urban area 50/44, symptomatic HIV testing 51/15, life-threatening conditions 24/1, deceased 8/0. We found statistically significant values in the LP for: HIV testing as symptomatic patient (p=0.0001), clinical life-threatening conditions (p=0.0001), rate of deaths (p=0.005); in the sample II we found significant values for HIV testing as screening (p=0.01) and HIV test request (p=0.0009). In the last 3 years there was no significant difference between the two groups: MSM transmission, concordant/discordant couples or celibate, provenience area, age more than 40. No significant values for LP between 2000-2010 and 2011-2013 (p=0.1), but differences in MSM transmission in the last 3 years (p=0.0002). Between 2000-2013 LP were 56-66% with influence on mortality rate. In the last 3 years the transmission rate on MSM is increasing from 5% to 33%. We have no intravenous drug users. HIV testing with informed consent delays the diagnosis and represents a barrier for earlier HIV testing.

More on Fecal Occult Blood Test Misuse

The current issue of the Journal includes a study by Narula et al (1) (pages 421–426) that nicely demonstrates the numerous reasons why fecal occult blood test (FOBT) use outside of screening purposes should be considered inappropriate and how it may, in fact, negatively impact patient care. The authors performed a chart review of all FOBTs ordered in Hamilton Health Sciences’ (Hamilton, Ontario) acute care campuses over a three-month period in 2011, combined with a survey of health care providers on their practices regarding the use of FOBT. Use of point-of-care FOBT was not included. The clinical presentations were anemia, overt or suspected gastrointestinal (GI) bleeding, diarrhea, iron deficiency and dyspepsia. Thirty-four percent of patients underwent ≥2 FOBTs, and the majority of tested patients were either on medications or on a diet that could interfere with the test. Only 50% of the FOBT positives were ever referred for a GI consultation and, most importantly, 27% of patients presenting with overt GI bleeding in whom an FOBT was ordered experienced a delay in the GI referral because of the FOBT process. The survey included 67 health care professionals (mainly primary care physicians and nurses); the most common reasons for ordering an FOBT were: symptoms potentially consistent with GI bleeding (84%); anemia (53%); iron deficiency with or without anemia (31%); overt GI blood loss (26%); and nonbloody diarrhea (10%). Interestingly, screening for colorectal cancer was a cited reason in only 25% of the cases.