Abstract Background Transferrin saturation is widely considered the preferred screening test for hemochromatosis. Unsaturated iron-binding capacity has similar performance at lower cost. However, the ...within-person biological variability of both these tests may limit their ability at commonly used cut points to detect HFE C282Y homozygous patients. Methods The Hemochromatosis and Iron Overload Screening Study screened 101,168 primary care participants for iron overload using transferrin saturation, unsaturated iron-binding capacity, ferritin, and HFE C282Y and H63D genotyping. Transferrin saturation and unsaturated iron-binding capacity were performed at initial screening and again when selected participants and controls returned for a clinical examination several months later. A missed case was defined as a C282Y homozygote who had transferrin saturation below the cut point (45% for women, 50% for men) or unsaturated iron-binding capacity above the cut point (150 μmol/L for women, 125 μmol/L for men) at the initial screening or the clinical examination, or both, regardless of serum ferritin. Results There were 209 C282Y previously undiagnosed homozygotes with transferrin saturation and unsaturated iron-binding capacity testing performed at the initial screening and clinical examination. Sixty-eight C282Y homozygotes (33%) would have been missed at these transferrin saturation cut points (19 men, 49 women; median serum ferritin level of 170 μg/L; first and third quartiles, 50 and 474 μg/L), and 58 homozygotes (28%) would have been missed at the unsaturated iron-binding capacity cut points (20 men, 38 women; median serum ferritin level of 168 μg/L; first and third quartiles, 38 and 454 μg/L). There was no advantage to using fasting samples. Conclusions The within-person biological variability of transferrin saturation and unsaturated iron-binding capacity limits their usefulness as an initial screening test for expressing C282Y homozygotes.
Haemochromatosis Adams, Paul C, Dr; Barton, James C, MD
The Lancet (British edition),
12/2007, Letnik:
370, Številka:
9602
Journal Article
Recenzirano
Summary Since the discovery of the haemochromatosis gene ( HFE; chromosome 6p21.3) associated with haemochromatosis in 1996, many studies about diverse aspects of this common genetic disorder have ...been done. Some patients present with cirrhosis and show high mortality, whereas many asymptomatic homozygotes for the C282Y mutation in the haemochromatosis gene identified in population screening studies, who have been followed up for many years, do not develop iron overload. Studies described the usefulness of transferrin saturation and serum ferritin tests, and the acceptability of genetic testing for haemochromatosis. Phlebotomy therapy improves hepatic fibrosis. Here, we summarise some new findings in haemochromatosis, a disorder first described in 1865.
Abstract Purpose We sought to determine the prevalence of elevated measures of iron status in African Americans and whether the combination of serum ferritin concentration >200 μg/L for women or >300 ...μg/L for men and transferrin saturation in the highest quartile represents increased likelihood of mutation of HFE , self-reported iron overload or self-reported liver disease. Subjects and Methods A cross-sectional observational study of 27,224 African Americans ≥25 years of age recruited in a primary care setting was conducted as part of the multi-center, multi-ethnic Hemochromatosis and Iron Overload Screening (HEIRS) Study. Measurements included serum ferritin concentration, transferrin saturation, testing for HFE C282Y and H63D, and self-reported iron overload and liver disease. Results Serum ferritin concentration >200 μg/L for women or >300 μg/L for men occurred in 5263 (19.3%) of African Americans, while serum ferritin concentration in this range with highest-quartile transferrin saturation (>29% women; >35% men) occurred in 1837 (6.7%). Adjusted odds of HFE mutation (1.76 women, 1.67 men), self-reported iron overload (1.97 women, 2.88 men), or self-reported liver disease (5.18 women, 3.73 men) were greater with elevated serum ferritin concentration and highest-quartile transferrin saturation than with nonelevated serum ferritin concentration (each P <.05). Conclusions Serum ferritin concentration >200 μg/L for women or >300 μg/L for men in combination with transferrin saturation >29% for women or >35% for men occurs in approximately 7% of adult African American primary care patients. Patients with this combination of iron test results should be evaluated for increased body iron stores or liver disease.
Interdigital neuralgia Peters, Paul G; Adams, Jr, Samuel B; Schon, Lew C
Foot and ankle clinics,
06/2011, Letnik:
16, Številka:
2
Journal Article
Recenzirano
Interdigital neuralgia affects a significant number of individuals, with an average age of presentation in the sixth decade and a 4- to 15-fold increased prevalence in women. Historical descriptions ...date back to the 19th century. Nonoperative treatment with shoe modifications, metatarsal pads, and injections provides relief for most, but long term, 60% to 70% of patients eventually elect to have surgery. Although excision can be performed through a dorsal or plantar approach, we prefer the dorsal incision to prevent scar formation on the plantar aspect of the foot. Satisfactory results are common but not certain with reports of excellent or good ranging from 51% to 93%.
BACKGROUND Since the publication of the 2006 American College of Chest Physicians (CHEST) cough guidelines, a variety of tools has been developed or further refined for assessing cough. The purpose ...of the present committee was to evaluate instruments used by investigators performing clinical research on chronic cough. The specific aims were to (1) assess the performance of tools designed to measure cough frequency, severity, and impact in adults, adolescents, and children with chronic cough and (2) make recommendations or suggestions related to these findings. METHODS By following the CHEST methodologic guidelines, the CHEST Expert Cough Panel based its recommendations and suggestions on a recently published comparative effectiveness review commissioned by the US Agency for Healthcare Research and Quality, a corresponding summary published in CHEST , and an updated systematic review through November 2013. Recommendations or suggestions based on these data were discussed, graded, and voted on during a meeting of the Expert Cough Panel. RESULTS We recommend for adults, adolescents (≥ 14 years of age), and children complaining of chronic cough that validated and reliable health-related quality-of-life (QoL) questionnaires be used as the measurement of choice to assess the impact of cough, such as the Leicester Cough Questionnaire and the Cough-Specific Quality-of-Life Questionnaire in adult and adolescent patients and the Parent Cough-Specific Quality of Life Questionnaire in children. We recommend acoustic cough counting to assess cough frequency but not cough severity. Limited data exist regarding the performance of visual analog scales, numeric rating scales, and tussigenic challenges. CONCLUSIONS Validated and reliable cough-specific health-related QoL questionnaires are recommended as the measurement of choice to assess the impact of cough on patients. How they compare is yet to be determined. When used, the reporting of cough severity by visual analog or numeric rating scales should be standardized. Previously validated QoL questionnaires or other cough assessments should not be modified unless the new version has been shown to be reliable and valid. Finally, in research settings, tussigenic challenges play a role in understanding mechanisms of cough.
Recurrent or persistent symptoms following surgical neurectomy for an interdigital neuroma are quite common, because of incorrect initial diagnosis, true neuroma formation, nerve stump adhesions, ...accessory nerve branches, or an adjacent web space neuroma. The clinical presentation of a recurrent neuroma is similar to the initial presentation. Recurrent symptoms usually occur within the first 12 months after surgery. The physical examination coupled with diagnostic nerve blocks is critical for diagnosis. Conservative therapy, although not particularly effective in treating true recurrent neuromas, may help to alleviate pain. With proper isolation of the instigating neuroma, revision surgical excision can be effective.
Abstract Interprofessional education (IPE) has become increasingly the object of focus in undergraduate medical education. Evidence supports the promotion of teamwork and effective communication to ...improve patient safety and outcomes. Educators are challenged to find meaningful ways to teach these skills to students and there are several barriers that must be addressed to meet this challenge. Educators must work outside of well-established silos within the medical education community to bring learners from various disciplines together. In addition, they must create curriculum that engages all participants and is relevant to the modern learner. Simulation creates a safe, low stress environment in which participants may practice communication and teamwork without risk to themselves or, more importantly, patients. By practicing a high stress, high stakes scenario in the low risk environment of the simulator, learners from various disciplines are able practice these skills in a meaningful way. Cardiac arrest is an example of a common, high impact occurrence that is particularly amenable to interprofessional team based simulation training exercises. We describe the development of an interprofessional student course teaching communication and teamwork culminating in a team run cardiac arrest simulation exercise. This course was designed to use a blended learning model utilizing both pre-course online materials available to participants, a team training exercise utilizing high-fidelity simulation and team debrief with formative assessment. This blended model addressed the challenge of coordinating multiple learners from multiple colleges and schedules.
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