Citations

SummaryMutations of the SCN1A subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (GEFS+) in multiplex families and accounts for 70–80% of Dravet syndrome (DS). DS cases without SCN1A mutation inherited have predicted SCN9A susceptibility variants, which may contribute to complex inheritance for these unexplained cases of DS. Compared with controls, DS cases were significantly enriched for rare SCN9A genetic variants. None of the multiplex febrile seizure or GEFS+ families could be explained by highly penetrant SCN9A mutations.

There is no conclusive evidence about the way to a promote behavior change in self-management programs for patients with chronic obstructive pulmonary disease (COPD). The latter is a significant knowledge gap as there is a need to promote a sustained effect in interventions like Pulmonary Rehabilitation or Supporting Programs. Embracing patient’s values seems to be a key ingredient to ignite genuine motivation for behavior change. This manuscript describes two pilot qualitative studies carried out in patients with severe COPD aimed to engage the patient inner experience and promote self-management: a trial testing motivational interviewing (MI) as one style of helping patients with severe COPD make changes in their behavior and second a trial testing a mindfulness-based intervention. The MI study consisted of a 3-month program of weekly coaching phone calls after one face-to-face visit. The following themes were outstanding: patients value the supportive communication with coach and believe the MI-based coaching created increased level of awareness and accountability. They perceived an increase in physical activity and reported “feeling better” or other benefits not directly related to exercise. The Mindfulness for Health Program was a mandatory 8-week program that consisted on 2-hour classes aimed to cultivate nonjudgmental attention in the moment (through different meditative practices and sharing) plus monthly face-to-face encounters aimed to sustain practice and sharing of life experiences for 1 year. The following themes (at 1 year) were outstanding: appreciating life by seeing hardships as opportunities, valuing the self through compassion and awareness, cultivating connectedness with others, acquiring joy, and adopting healthy behaviors. In the search for the “holy grail” for self-management programs that can promote a behavior change, mindfulness and MI seem promising for cultivating a way to live a life in which people are fully present and consciously agree with.

Fibrolamellar hepatocellular carcinoma (FLHCC) is a rare variant of hepatocellular carcinoma (HCC) that commonly affects young individuals without a prior history of liver disease. FLHCC commonly results in a better prognosis than HCC; however, the risk of recurrence and metastatic disease is high. FLHCC is typically treated by primary resection of the tumor with 50-75% cure rates. The use of radiation therapy in FLHCC has not been assessed on its own, and may show some success in a very few reported combination therapy cases. We report on the successful use of radiation therapy in a case of metastatic FLHCC to the lung following primary and secondary resections. Our treatment of the large, metastatic, pulmonary FLHCC tumor with 40 Gy in 10 fractions resulted in an 85.9% tumor volume decrease over six months. This suggests FLHCC may be a radiosensitive tumor and radiotherapy may be valuable in unresectable or metastatic tumors.

ABSTRACTIntroduction: Ten new features of motor unit potential (MUP) morphology and stability are proposed. These new features, along with 8 traditional features, are grouped into 5 aspects: size, shape, global complexity, local complexity, and stability. Methods: We used sequential forward and backward search strategies to select subsets of these 18 features to discriminate accurately between muscles whose MUPs are predominantly neurogenic, myopathic, or normal. Results and Conclusions: Results based on 8102 motor unit potential trains (MUPTs) extracted from 4 different limb muscles (n = 336 total muscles) demonstrate the usefulness of these newly introduced features and support an aspect‐based grouping of MUPT features. Muscle Nerve 49: 680–690, 2014

Papillary fibroelastomas (PFEs) are benign cardiac tumors arising from endocardium. They are commonly found on valvular surfaces and average 1.0–1.5 cm in size. Though often asymptomatic, PFEs can lead to potentially severe complications, primarily due to their embolic potential. Surgical resection is recommended for all symptomatic or large PFEs. We report the case of a patient presenting with cardiovascular symptoms who was found to have a very large aortic valve PFE, as diagnosed by histopathologic examination following surgical resection. Multimodality cardiovascular imaging demonstrates the classic morphologic findings, including a pedunculated appearance and oscillating “frond-like” surface projections.

AbstractPurposeThe aim of this retrospective study was to summarize practice‐based evidence associated with long‐term outcomes (>20 years) in the management of edentulous patients. The patient population was managed with implant‐supported prostheses, following the original osseointegration protocol, provided over the period from 1983 to 1991 in the group prosthodontics practice at the Mayo Clinic. The data are an example of practice quality assurance monitoring and are used to refine care delivery when needed and to provide information regarding expected outcomes in a shared decision‐making interaction with prospective patients.Materials and MethodsTwo hundred and sixty four patients with at least one edentulous jaw were identified. Of these, 255 completed their care and follow‐up at the Mayo Clinic (209 mandible only, 35 maxilla only, 11 mandible and maxilla). Prosthodontic outcomes categorized as anticipated or unanticipated prosthetic and biologic events and the respective interventions required for each were recorded to assess follow‐up event dynamics for this care modality.ResultsThe mean duration of follow‐up for 190 of the 255 patients (65 died at a mean follow‐up of 12.6 years) was 13.0 years (median 13.6; range 0.3 to 28). At least one prosthetic event was experienced by 148 patients (58%), and 81 (32%) experienced at least one biologic event. Overall, patients experienced 3.8 times more prosthetic events than biologic events. Twenty‐four (9%) patients experienced 35 implant failures. Overall survival rates at 20 years were 86% for prostheses, 15% survived free of any event, and 92% experienced survival free of implant failure (95% confidence interval).ConclusionAnticipated and unanticipated prosthetic events occur throughout the life of the hybrid prosthesis. Prosthetic events significantly surpass (four times more) biologic events and occur significantly later in the follow‐up. For this patient group, 8.6% (22/255) had implant‐supported prostheses remade during follow‐up in this patient population. These findings support the recommendation that prosthodontic care for missing teeth be thought of in a “chronic condition” context, recognizing that long‐term outcome monitoring to provide realistic care expectations is important for demonstrating care value in oral health promotion.