Precision medicine aims to approach disease treatment and prevention with consideration of the variability in genes, environment, and lifestyle for each person. This focus on the individual is also ...key to the practice of genetic counseling, whereby foundational professional values prioritize informed and autonomous patient decisions regarding their genetic health. Genetic counselors are ideally suited to help realize the goals of the precision medicine. However, a limited genetic counseling workforce at a time in which there is a rapidly growing need for services is challenging the balance of supply and demand. This article provides historical context to better understand what has informed traditional models of genetic counseling and considers some of the current forces that require genetic counselors to adapt their practice. New service delivery models can improve access to genetic healthcare by overcoming geographical barriers, allowing genetic counselors to see a higher volume of patients and supporting other healthcare providers to better provide genetic services to meet the needs of their patients. Approaches to genetic counseling service delivery are considered with a forward focus to the challenges and opportunities that lie ahead for genetic counselors in this age of precision health.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
Lymphogranuloma venereum (LGV) has emerged as an important cause of proctitis and proctocolitis in men who have sex with men; classical inguinal presentation is now increasingly uncommon. We report ...summary findings of an extensive literature review on LGV clinical presentation, diagnosis, and treatment that form the evidence base for the 2015 Centers for Disease Control and Prevention treatment guidelines for sexually transmitted diseases. Proctitis and proctocolitis are now the most commonly reported clinical manifestations of LGV, with symptoms resembling those of inflammatory bowel disease. Newer molecular tests to confirm LGV infection are sensitive and specific, but are generally restricted to research laboratory or public health settings. Doxycycline (100 mg twice daily for 21 days) remains the treatment of choice for LGV. Patients with rectal chlamydial infection and signs or symptoms of proctitis should be tested for LGV, or if confirmatory testing is not available, should be treated empirically with a recommended regimen to cover LGV infection.
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Clinical assessment of Tourette syndrome and tic disorders Cohen, Stephanie C; Leckman, James F; Bloch, Michael H
Neuroscience & biobehavioral reviews/Neuroscience and biobehavioral reviews,
07/2013, Volume:
37, Issue:
6
Journal Article
Peer reviewed
Open access
Tourette syndrome (TS) is a neuropsychiatric disorder involving multiple motor and phonic tics. Tics, which usually begin between the ages of 6 and 8, are sudden, rapid, stereotyped, and apparently ...purposeless movements or sounds that involve discrete muscle groups. Individuals with TS experience a variety of different sensory phenomena, including premonitory urges prior to tics and somatic hypersensitivity due to impaired sensorimotor gating. In addition to other conditions, stress, anxiety, fatigue, or other heightened emotional states tend to exacerbate tics, while relaxation, playing sports, and focused concentration on a specific task tend to alleviate tic symptoms. Ninety percent of children with TS also have comorbid conditions, such as attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or an impulse control disorder. These disorders often cause more problems for the child both at home and at school than tics do alone. Proper diagnosis and treatment of TS involves appropriate evaluation and recognition, not only of tics, but also of these associated conditions.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
IMPORTANCE: The incidence of chronic pancreatitis is 5 to 12 per 100 000 adults in industrialized countries, and the incidence is increasing. Treatment is multimodal, and involves nutrition ...optimization, pain management, and when indicated, endoscopic and surgical intervention. OBJECTIVES: To summarize the most current published evidence on etiology, diagnosis, and management of chronic pancreatitis and its associated complications. EVIDENCE REVIEW: A literature search of Web of Science, Embase, Cochrane Library, and PubMed was conducted for publications between January 1, 1997, and July 30, 2022. Excluded from review were the following: case reports, editorials, study protocols, nonsystematic reviews, nonsurgical technical publications, studies pertaining to pharmacokinetics, drug efficacy, pilot studies, historical papers, correspondence, errata, animal and in vitro studies, and publications focused on pancreatic diseases other than chronic pancreatitis. Ultimately, the highest-level evidence publications were chosen for inclusion after analysis by 2 independent reviewers. FINDINGS: A total of 75 publications were chosen for review. First-line imaging modalities for diagnosis of chronic pancreatitis included computed tomography and magnetic resonance imaging. More invasive techniques such as endoscopic ultrasonography allowed for tissue analysis, and endoscopic retrograde cholangiopancreatography provided access for dilation, sphincterotomy, and stenting. Nonsurgical options for pain control included behavior modification (smoking cessation, alcohol abstinence), celiac plexus block, splanchnicectomy, nonopioid pain medication, and opioids. Supplemental enzymes should be given to patients with exocrine insufficiency to avoid malnutrition. Surgery was superior to endoscopic interventions for long-term pain control, and early surgery (<3 years from symptom onset) had more superior outcomes than late surgery. Duodenal preserving strategies were preferred unless there was suspicion of cancer. CONCLUSIONS AND RELEVANCE: Results of this systematic review suggest that patients with chronic pancreatitis had high rates of disability. Strategies to improve pain control through behavioral modification, endoscopic measures, and surgery must also accompany management of the sequalae of complications that arise from endocrine and exocrine insufficiency.
The NanoSIMS ion probe is a new‐generation SIMS instrument, characterised by superior spatial resolution, high sensitivity and multi‐collection capability. Isotope studies of certain elements can be ...conducted with 50–100 nm resolution, making the NanoSIMS an indispensable tool in many research fields. We review technical aspects of the NanoSIMS ion probe and present examples of applications in cosmochemistry and biological geochemistry. This includes isotope studies of presolar (stardust) grains from primitive meteorites and of extraterrestrial organics, the search for extinct radioactive nuclides in meteoritic materials, the study of lunar samples, as well as applications in environmental microbiology, cell biology, plant and soil science, and biomineralisation.
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BFBNIB, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, UL, UM, UPUK
Albert Liu and colleagues report early experiences with uptake and delivery of pre-exposure prophylaxis(PrEP)for HIV prevention in three different settings in San Francisco. PrEP can be an important ...component of a comprehensive HIV prevention program and can complement efforts to increase HIV testing, linkage to care, and early initiation of antiretroviral therapy.
Please see later in the article for the Editors' Summary
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Diabetes mellitus (DM) has been associated with an increased risk of colorectal cancer (CRC). The American College of Gastroenterology Guidelines for Colorectal Cancer Screening 2008 recommend that ...clinicians be aware of an increased CRC risk in patients with smoking and obesity, but do not highlight the increase in CRC risk in patients with DM. To provide an updated quantitative assessment of the association of DM with colon cancer (CC) and rectal cancer (RC), we conducted a meta-analysis of case-control and cohort studies. We also evaluated whether the association varied by sex, and assessed potential confounders including obesity, smoking, and exercise.
We identified studies by searching the EMBASE and MEDLINE databases (from inception through 31 December 2009) and by searching bibliographies of relevant articles. Summary relative risks (RRs) with 95% confidence intervals (CIs) were calculated with fixed- and random-effects models. Several subgroup analyses were performed to explore potential study heterogeneity and bias.
DM was associated with an increased risk of CC (summary RR 1.38, 95% CI 1.26-1.51; n=14 studies) and RC (summary RR 1.20, 95% CI 1.09-1.31; n=12 studies). The association remained when we limited the meta-analysis to studies that either controlled for smoking and obesity, or for smoking, obesity, and physical exercise. DM was associated with an increased risk of CC for both men (summary RR 1.43, 95% CI 1.30-1.57; n=11 studies) and women (summary RR 1.35, 95% CI 1.14-1.53; n=10 studies). For RC, there was a significant association between DM and cancer risk for men (summary RR 1.22, 95% CI 1.07-1.40; n=8 studies), but not for women (summary RR 1.09, 95% CI=0.99-1.19; n=8 studies).
These data suggest that DM is an independent risk factor for colon and rectal cancer. Although these findings are based on observational epidemiological studies that have inherent limitations due to diagnostic bias and confounding, subgroup analyses confirmed the consistency of our findings across study type and population. This information can inform risk models and specialty society CRC screening guidelines.
Study objective We investigate the accuracy of pediatric emergency physician sonography for acute appendicitis in children. Methods We prospectively enrolled children requiring surgical or radiology ...consultation for suspected acute appendicitis at an urban pediatric emergency department. Pediatric emergency physicians performed focused right lower-quadrant sonography after didactics and hands-on training with a structured scanning algorithm, including the graded-compression technique. We compared their sonographic interpretations with clinical and radiologic findings, as well as clinical outcomes as defined by follow-up or pathologic findings. Results Thirteen pediatric emergency medicine sonographers performed 264 ultrasonographic studies, including 85 (32%) in children with pathology-verified appendicitis. Bedside sonography had a sensitivity of 85% (95% confidence interval CI 75% to 95%), specificity of 93% (95% CI 85% to 100%), positive likelihood ratio of 11.7 (95% CI 6.9 to 20), and negative likelihood ratio of 0.17 (95% CI 0.1 to 0.28). Conclusion With focused ultrasonographic training, pediatric emergency physicians can diagnose acute appendicitis with substantial accuracy.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
Quilts occupy a liminal position in the histories of art and material culture. Centering analyses around specific artworks like Martha Ricks’ 1892 Coffee Tree quilt, as well as investigating women’s ...writing about their material production, illuminates ignored narratives about the ways black women participated in international social, political, and economic networks around the nineteenth-century Atlantic world. Quilters who emigrated from the United States to Liberia in the nineteenth century incorporated an aesthetic heritage from the American South with new visual vocabularies developing alongside the newly independent nation. Artists relied on networks with abolitionists in the United States and local textile knowledge to source materials for their work. Finished quilts circulated in local and international contexts, furthering social, political, and economic objectives. Like Harriet Powers’ bible quilts, Ricks’ quilts gained fame through exhibition and a whimsical artist’s biography. Quilts’ fragility as natural-fiber textiles in a tropical climate makes a finding a body of works difficult to examine as there are no extant Liberian quilts from the nineteenth century. However, it is possible to patch together a network of women artists, their patrons, and audiences from West Africa to North America and Europe through creative investigation of diverse historical records, including diary entries, letters, newspaper articles, and photographs. I argue that by examining Martha Ricks’ artworks, self-presentation through portraiture, and published writing, it is possible to envision a new narrative of black women’s participation in visualizing the newly-minted Republic of Liberia for Atlantic audiences.
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