Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Objectives: To present a case series of novel CHD2 variants in patients presenting with genetic epileptic and developmental encephalopathy. Background: CHD2 gene encodes an ATP-dependent enzyme, chromodomain helicase DNA-binding protein 2, involved in chromatin remodeling. Pathogenic variants in CHD2 are linked to early-onset conditions such as developmental and epileptic encephalopathy, drug-resistant epilepsies, and neurodevelopmental disorders. Approximately 225 diagnosed patients from 28 countries exhibit various allelic variants in CHD2, including small intragenic deletions/insertions and missense, nonsense, and splice site variants. Results: We present the molecular and clinical characteristics of 17 unreported individuals from 17 families with novel pathogenic or likely pathogenic variants in CHD2. All individuals presented with severe global developmental delay, childhood-onset myoclonic epilepsy, and additional neuropsychiatric features, such as behavioral including autism, ADHD, and hyperactivity. Additional findings include abnormal reflexes, hypotonia and hypertonia, motor impairment, gastrointestinal problems, and kyphoscoliosis. Neuroimaging features included hippocampal signal alterations (4/10), with additional volume loss in 2 cases, inferior vermis hypoplasia (7/10), mild cerebellar atrophy (4/10), and cerebral atrophy (1/10). Discussion: Our study broadens the geographic scope of CHD2-related phenotypes, providing valuable insights into the prevalence and clinical characteristics of this genetic disorder in previously underrepresented populations.

Website Redesign: A Case Study.

A library website redesign is a complicated and at times arduous task, requiring many different steps including determining user needs, analyzing past user behavior, examining other websites, defining design preferences, testing, marketing, and launching the site. Many different types of expertise are required over the entire process. Lessons learned from the Norris Medical Library's experience with the redesign effort may be useful to others undertaking a similar project.

16p13.11 microdeletion in a patient with hemiconvulsion-hemiplegia-epilepsy syndrome: a case report.

We describe a patient with hemiconvulsion-hemiplegia-epilepsy syndrome. The pathophysiology of hemiconvulsion-hemiplegia-epilepsy syndrome remains uncertain and there are probably multiple potential contributing factors. Our patient had a chromosomal 16p13.11 microdeletion that confers susceptibility to various types of epilepsy. This is the first report detailing an association of hemiconvulsion-hemiplegia-epilepsy syndrome with a 16p13.11 deletion and identifies another potential causal factor for hemiconvulsion-hemiplegia-epilepsy syndrome.

Eye doses to staff in a nuclear medicine department.

OBJECTIVE: Occupational radiation doses to the Nuclear Medicine Department staff at Mount Vernon Hospital are routinely measured using optically stimulated luminescence dosemeters for whole-body effective dose and ring thermoluminescence dosemeters (TLDs) for finger dose. In 2002, a project was carried out using LiF:Mg,Cu,P Chinese TLDs to measure the dose to the lens of the eye received by staff during normal working procedures. METHODS: Separate pairs of TLDs were worn by staff on their forehead between their eyes while dispensing and releasing in the radiopharmacy, injecting, and when administering I-131 capsules to patients. The dose received was calculated using calibration data from identical TLDs irradiated with Tc-99m, I-131, and the Ir-192 source of a Gammamed High Dose Rate (HDR) treatment unit. Data were collected over a 5-month period and the mean dose to the eye was calculated for each procedure. RESULTS: Using a typical yearly workload, the annual dose to the eye for a single member of staff was calculated and found to be 4.5 mSv. CONCLUSION: The occupational eye dose limit was, at the time, 150 mSv; therefore, staff were well below the level (3/10th of this limit) that would have required them to be classified. However, there have been large increases in radiopharmacy production and I-131 therapies administered at Mount Vernon in subsequent years. It is therefore expected that the eye dose received by staff will have increased to be significantly higher than 4.5 mSv and will in fact be greater than 6 mSv, which is 3/10th of the proposed new dose limit and would require these staff to become classified workers.

Complementary and alternative therapies: survey of knowledge and attitudes of health professionals at a tertiary pediatric/women's care facility.

Nurses, physicians, and allied health professionals at the IWK Health Centre, Halifax, NS, Canada, a tertiary care, regional center for a population of 2.5 million were surveyed. We examined personal attitudes and professional practice in addressing the use of complementary and alternative medicine (CAM) use by patients. We also examined the availability of CAM-related information to health professionals. The findings suggest that health professionals: (1) are supportive of the use of selected CAM therapies by patients; (2) have almost no personal experience of CAM; (3) have limited knowledge about CAM and acquire that information mainly from the Internet, friends or family rather than professional journals; (4) are uncomfortable discussing CAM with patients and; (5) rarely or never ask patients about CAM use. We have identified barriers for health professionals to effective communication about CAM use by their patients and families. Improved access to existing policies and scientific publications, and specific continuing professional development opportunities focused on speaking openly and non-judgmentally with patients are likely to enhance accurate guidance of patients in the highly prevalent use of CAM.

Clinical outcomes after closed, staged, and open forefoot amputations.

BACKGROUND: Surgical approaches for forefoot osteomyelitis include amputation with immediate wound closure or resection followed by either staged re-resection and wound closure or local care of the open wound for secondary healing. This study evaluated the effectiveness of closed, staged, and open forefoot amputations in preventing major leg amputation and identified those variables that are associated with successful limb preservation. METHODS: From July 2002 to June 2004, 208 patients with forefoot osteomyelitis or gangrene underwent minor amputation according to a standard treatment algorithm. Wounds with limited cellulitis underwent immediate wound closure (CLOSED), wounds with marginally viable soft tissue underwent open amputation followed by wound closure at 2 to 7 days (STAGED), and wounds with tenosynovitis or extensive necrosis underwent débridement with no attempt at wound closure (OPEN). Patient demographics, need for further operative interventions, time to complete healing, and progression to major amputation were recorded. RESULTS: With four subjects lost to follow-up, 204 patients (98%) (94 CLOSED, 56 STAGED, and 54 OPEN) were monitored to complete healing, major amputation, or death. OPEN amputations had a significantly reduced initial healing rate (37%, P < .001) and a frequent need for repeat operative intervention (43%), although successful limb salvage was ultimately achieved in 70% of the cases. Initial healing in the CLOSED and STAGED amputation groups was similar (71% and 78%, respectively), leading to excellent early limb salvage (86% and 91%). The median time to healing for closed, staged, and open amputations was 1.2, 1.6, and 4.6 months, respectively (P < .001). Follow-up evaluation demonstrated the initial improvements in limb salvage with the CLOSED and STAGED groups were lost, resulting in similar amputation rates among the three groups of 30% to 35% over 36 months. CONCLUSIONS: Although open amputation of extensive forefoot infections frequently requires repeat operative interventions and a prolonged time to complete healing, this approach provides limb salvage rates approaching those observed for less invasive infections amenable to immediate closure. Staged closure offers an improved time to healing without negatively impacting the risk of major limb amputation. Independent of their initial operative approach, these patients frequently progress to early leg amputation.

How does surface modification aid in the dispersion of carbon nanofibers?

Small-angle light scattering is used to assess the dispersion behavior of vapor-grown carbon nanofibers suspended in water. These data provide the first insights into the mechanism by which surface treatment promotes dispersion. Both acid-treated and untreated nanofibers exhibit hierarchical morphology consisting of small-scale aggregates (small bundles) that agglomerate to form fractal clusters that eventually precipitate. Although the morphology of the aggregates and agglomerates is nearly independent of surface treatment, their time evolution is quite different. The time evolution of the small-scale bundles is studied by extracting the size distribution from the angle-dependence of the scattered intensity, using the maximum entropy method in conjunction with a simplified tube form factor. The bundles consist of multiple tubes possibly aggregated side-by-side. Acid oxidation has little effect on this bundle morphology. Rather acid treatment inhibits agglomeration of the bundles. The time evolution of agglomeration is followed by fitting the scattering data to a generalized fractal model. Agglomerates appear immediately after cessation of sonication for untreated fibers but only after hours for treated fibers. Eventually, however, both systems precipitate.

Integration of information literacy into a revised medical school curriculum.

The Keck School of Medicine of the University of Southern California's newly revised Year I-II curriculum integrates information literacy components based on the AAMC's medical informatics objectives throughout the two-year continuum. Students are required to participate in various components taught by librarians from the Norris Medical Library including (1) an information skills workshop, (2) a yearlong literature search project, and (3) an evidence-based medicine resources workshop. Critical appraisal of literature also is included in the curriculum to ensure that the students are familiar with the various research study designs. Librarians also provide resources to assist students in researching learning issues related to cases presented in the curriculum. To encourage the faculty mentors to serve as good models of information users, librarians offer brief training sessions on information resources to faculty.