Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic.

Identification of patients with cancer predisposition syndromes (CPSs) can provide vital information to guide care of an existing cancer, survey for future malignancy, and counsel families. The same underlying mutation responsible for a CPS may also result in other phenotypic abnormalities amenable to therapeutic intervention. The purpose of this study was to examine patients followed in our multidisciplinary CPS clinic to determine the prevalence and scope of medical and psychosocial needs. Data from a baseline evaluation of a single-center patient registry was reviewed. Eligible patients included those with a known or suspected CPS. Over 3 years, 73 patients consented and had successful follow-up. Utilization rate of special therapies, defined as speech therapy, occupational therapy, and/or physical therapy, in the CPS population was 50.7%, significantly higher than a representative sample of children with special needs. Prevalence of 504/IEP (Individualized Education Program) utilization was 20.5%. Patients with CPSs have a high prevalence of medical and psychosocial needs beyond their risk for cancer, for which early screening for necessary interventions should be offered to maximize the patient's developmental potential. Future research is needed to further define the developmental and cognitive phenotypes of these syndromes, and to evaluate the effectiveness of subsequent interventions.

Subclinical Peroneal Neuropathy: A Common, Unrecognized, and Preventable Finding Associated With a Recent History of Falling in Hospitalized Patients.

PURPOSE: Identification of modifiable risk factors for falling is paramount in reducing the incidence and morbidity of falling. Peroneal neuropathy with an overt foot drop is a known risk factor for falling, but research into subclinical peroneal neuropathy (SCPN) resulting from compression at the fibular head is lacking. The purpose of our study was to determine the prevalence of SCPN in hospitalized patients and establish whether it is associated with a recent history of falling. METHODS: We conducted a cross-sectional study of 100 medical inpatients at a large academic tertiary care hospital in St Louis, Missouri. General medical inpatients deemed at moderate to high risk for falling were enrolled in the summer of 2013. Patients were examined for findings that suggest peroneal neuropathy, fall risk, and a history of falling. Multivariate logistic regression was used to correlate SCPN with fall risk and a history of falls in the past year. RESULTS: The mean patient age was 53 years (SD = 13 years), and 59 patients (59%) were female. Thirty-one patients had examination findings consistent with SCPN. After accounting for various confounding variables within a multivariate logistic regression model, patients with SCPN were 4.7 times (95% CI, 1.4-15.9) more likely to report having fallen 1 or more times in the past year. CONCLUSIONS: Subclinical peroneal neuropathy is common in medical inpatients and is associated with a recent history of falling. Preventing or identifying SCPN in hospitalized patients provides an opportunity to modify activity and therapy, potentially reducing risk.

Probing the steric requirements of the γ-aminobutyric acid aminotransferase active site with fluorinated analogues of vigabatrin.

We have synthesized three analogues of 4-amino-5-fluorohexanoic acids as potential inactivators of γ-aminobutyric acid aminotransferase (GABA-AT), which were designed to combine the potency of their shorter chain analogue, 4-amino-5-fluoropentanoic acid (AFPA), with the greater enzyme selectivity of the antiepileptic vigabatrin (Sabril®). Unexpectedly, these compounds failed to inactivate or inhibit the enzyme, even at high concentrations. On the basis of molecular modeling studies, we propose that the GABA-AT active site has an accessory binding pocket that accommodates the vinyl group of vigabatrin and the fluoromethyl group of AFPA, but is too narrow to support the extra width of the distal methyl group in the synthesized analogues.

Cubital Tunnel Syndrome: Incidence and Demographics in a National Administrative Database.

Background: Compressive neuropathy of the ulnar nerve at the elbow, or cubital tunnel syndrome (CuTS), is the second most common entrapment neuropathy of the upper extremity after carpal tunnel syndrome. While several studies have reported risk factors and outcomes for select populations (mostly surgical), it is difficult to interpret these data without an accurate measure of CuTS disease burden in the general population. Objective: To estimate the incidence of CuTS among US health plan enrollees, using a large administrative health care claims database comprised of individuals from all 50 states. Methods: An administrative database of commercial insurance beneficiaries was queried for diagnosis and treatment of CuTS over a 6-yr period. We examined subsequent claims to determine frequency of subsequent surgical treatment. Descriptive statistics were used to determine the association of incident cases and surgical treatment with age and gender. Results: The estimated adjusted incidence rate of CuTS is 30.0 per 100 000 person-years. Of the 53 401 identified new cases within this cohort from 2006 to 2012, 41.3% were treated surgically. Incident cases were identified more frequently in men than in women (31.2 vs 28.8 cases per 100 000 person-years), though we observed more cases in women than in men below 50 yr of age (20.9 vs 19.5 cases per 100 000 person-years). Overall, incident cases increase with age in both men and women. In addition to incident cases being more common with increasing age, the percentage of cases treated surgically also increases with age (surgery in 34.4% of cases in the 18-30 yr group vs 48.8% of cases in the 60-65 yr group). Conclusion: The purpose of this study was to estimate the incidence of CuTS among US health plan enrollees. This is the largest published study on the incidence of CuTS, and the first to look at a US population. The overall adjusted incidence of CuTS was 30.0 per 100 000 person-years. Of patients who developed CuTS, 41.3% were treated surgically during the study period. Our results corroborate previously reported literature suggesting incidence increases significantly with age, with a slightly higher incidence in males. A high percentage of people who were diagnosed with CuTS and ended up receiving surgical intervention (41.3%) were older males. These results may aid practitioners in providing some basic prognostic information to patients who develop CuTS.

Acute management and outcomes of iatrogenic dissections during cerebral angiography.

BACKGROUND AND PURPOSE: Iatrogenic dissection is a known complication of cerebral angiography, but the clinical outcomes and optimal treatment of these patients is not well established. We sought to review our experience with cerebral angiography to determine the incidence of iatrogenic dissections along with clinical outcomes associated with a generally conservative treatment strategy. MATERIALS AND METHODS: We retrospectively reviewed clinical records for all patients that underwent cerebral angiography between March 2002 and May 2015. Demographic information, angiography reports, follow-up CT and MRI reports, and follow-up clinical notes were reviewed. RESULTS: 17 418 cerebral angiograms were performed during the review period, including 13 485 diagnostic angiograms and 3933 endovascular interventional procedures. 68 iatrogenic dissections were identified, for a per procedure incidence of 0.39%. The vertebral artery was the most commonly dissected vessel (49/68, 72%). 67 of 68 cases (98.5%) were managed conservatively with either no treatment or medical therapy alone. There were two adverse events potentially attributable to the dissections, only one of which was symptomatic. CONCLUSIONS: Iatrogenic dissections occur infrequently during cerebral angiography. When dissections do occur, most cases can be safely managed without further intervention in the acute setting.

Pneumococcal hemolytic uremic syndrome and steroid resistant nephrotic syndrome.

Pneumococcal-associated hemolytic uremic syndrome (pHUS) is a rare but severe complication of invasive Streptococcus pneumoniae infection. We report the case of a 12-year-old female with steroid-resistant nephrotic syndrome treated with adrenocorticotrophic hormone (H.P. Acthar(®) Gel), who developed pneumococcal pneumonia and subsequent pHUS. While nephrotic syndrome is a well-known risk factor for invasive pneumococcal disease, this is the first reported case of pHUS in an adolescent patient with nephrotic syndrome, and reveals novel challenges in the diagnosis, treatment and potential prevention of this complication.