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Summary: The bendamustine–rituximab (BR) schedule is an efficient first‐line therapy in Waldenström macroglobulinaemia (WM). A previous analysis of 69 patients who received this treatment confirmed a high response rate and good progression‐free (PFS) and overall survival (OS). With a median follow‐up of 76.1 months (95% confidence interval [CI] 69.9–80.6), 5‐year outcome is still excellent at 66.63% (95% CI 56.09–79.17) for PFS and 80.01% (95% CI 70.82–90.41) for OS. The rate of secondary cancers is 17.66% (IQR 7.99–27.64) at 66 months. Relapsed patients who received ibrutinib as second‐line clearly benefited from this schedule. This confirms current recommendations suggesting BR long‐term efficacy as first‐line option in WM. [ABSTRACT FROM AUTHOR]

Introduction: The MARVEL study demonstrated at a single time point that accelerometer (ACC)‐based atrial sensing improves atrioventricular (AV) synchrony (AVS) in patients with AV block and a Micra pacemaker (Medtronic, Minneapolis, MN, USA). The purpose of the MARVEL Evolve substudy was to assess the performance over time. Methods: This prospective single‐center study compared AVS and ACC signals at two visits ≥6 months apart. Custom software was temporarily downloaded into the Micra at each visit and AVS was measured during 30 min at rest. Results: Nine patients from the MARVEL study were enrolled. The mean (±standard deviation) age was 82.3 ± 6.0 years old, 67% were male, and a Micra was implanted for 6.0 ± 6.4 months. High‐degree AV block was present in four patients, whereas five with predominantly intrinsic conduction required intermittent pacing for bradycardia. The mean interval between visits was 7.1 ± 0.6 months. Seven patients had normal sinus node function at both visits and were included in a paired analysis. Both ACC signal amplitude (visit 2‐visit 1 = 1.4 mG; 95% confidence interval [CI] [−25.8 to 28.4 mG]; P = 0.933) and AVS (visit 1: 90.8%, 95% CI [72.4, 97.4] and visit 2: 91.4%, 95% CI [63.8, 98.5]; P = 0.740) remained stable. Three patients had spontaneous atrial tachycardia. During atrial fibrillation, no atrial contraction was detected or tracked. During atrial flutter, intermittent tracking resulted in a ventricular rate of 60 ± 8 beats per minute (bpm); there was no ventricular pacing >100 bpm. Conclusion: ACC signals amplitude and performance of AVS pacing were stable over time. During atrial arrhythmias, the AV synchronous pacing mode behaved safely. [ABSTRACT FROM AUTHOR]

Background: Promotion of a healthy lifestyle for people with intellectual disabilities is important; however, the effectiveness of lifestyle change interventions is unclear. Aims: This research will examine the effectiveness of lifestyle change interventions for people with intellectual disabilities. Methods and Procedures: Randomized controlled trials (RCTs) of lifestyle change interventions for people with intellectual disabilities were included in a systematic review and meta‐analysis. Data on study and intervention characteristics were extracted, as well as data on outcome measures and results. Internal validity of the selected papers was assessed using the Cochrane Collaboration's risk bias tool. Outcomes and Results: Eight RCTs were included. Multiple outcome measures were used, whereby outcome measures targeting environmental factors and participation were lacking and personal outcome measures were mostly used by a single study. Risks of bias were found for all studies. Meta‐analysis showed some effectiveness for lifestyle change interventions, and a statistically significant decrease was found for waist circumference. Conclusion and Implications: Some effectiveness was found for lifestyle change interventions for people with intellectual disabilities. However, the effects were only statistically significant for waist circumference, so current lifestyle change interventions may not be optimally tailored to meet the needs of people with intellectual disabilities. [ABSTRACT FROM AUTHOR]

Background There is an ongoing debate about the value of (neo-)adjuvant chemotherapy in high- and intermediate-grade osteosarcoma of the head and neck. Methods All records of patients older than 16 years diagnosed with osteosarcoma of the head and neck in the Netherlands between 1993 and 2013 were reviewed. Results We identified a total of 77 patients with an osteosarcoma of the head and neck; the 5-year overall survival (OS) was 55%. In 50 patients with surgically resected high- or intermediate-grade osteosarcoma of the head and neck younger than 75 years, univariate and multivariable analysis, adjusting for age and resection margins, showed that patients who had not received chemotherapy had a significantly higher risk of local recurrence (hazard ratio [HR] = 3.78 and 3.66, respectively). Conclusion In patients younger than 75 years of age with surgically resected high- and intermediate-grade osteosarcoma of the head and neck, treatment with (neo-)adjuvant chemotherapy resulted in a significantly smaller risk of local recurrence. Therefore, we suggest (neo-)adjuvant chemotherapy in patients amenable to chemotherapy. © 2016 The Authors Head & Neck Published by Wiley Periodicals, Inc. Head Neck 39: 140-146, 2017 [ABSTRACT FROM AUTHOR]

Objective IQSEC2 is an X-linked gene associated with intellectual disability ( ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. Methods Forty-eight patients with IQSEC2 variants were identified worldwide through Medline search. Two patients were recruited from our early onset epileptic encephalopathy cohort and one patient from personal communication. The 18 patients who have epilepsy in addition to ID are the subject of this study. Information regarding the 18 patients was ascertained by questionnaire provided to the treating clinicians. Results Six affected individuals had an inherited IQSEC2 variant and 12 had a de novo one (male-to-female ratio, 12:6). The pathogenic variant types were as follows: missense (8), nonsense (5), frameshift (1), intragenic duplications (2), translocation (1), and insertion (1). An epileptic encephalopathy was diagnosed in 9 (50%) of 18 patients. Seizure onset ranged from 8 months to 4 years; seizure types included spasms, atonic, myoclonic, tonic, absence, focal seizures, and generalized tonic-clonic ( GTC) seizures. The electroclinical syndromes could be defined in five patients: late-onset epileptic spasms (three) and Lennox-Gastaut or Lennox-Gastaut-like syndrome (two). Seizures were pharmacoresistant in all affected individuals with epileptic encephalopathy. The epilepsy in the other nine patients had a variable age at onset from infancy to 18 years; seizure types included GTC and absence seizures in the hereditary cases and GTC and focal seizures in de novo cases. Seizures were responsive to medical treatment in most cases. All 18 patients had moderate to profound intellectual disability. Developmental regression, autistic features, hypotonia, strabismus, and white matter changes on brain magnetic resonance imaging ( MRI) were prominent features. Significance The phenotypic spectrum of IQSEC2 disorders includes epilepsy and epileptic encephalopathy. Epileptic encephalopathy is a main clinical feature in sporadic cases. IQSEC2 should be evaluated in both male and female patients with an epileptic encephalopathy. [ABSTRACT FROM AUTHOR]

Objective: To systematically and comprehensively document the effectiveness of nonpharmacologic interventions on physical functioning and psychological well-being in patients with systemic sclerosis (SSc).Methods: Multiple electronic databases were searched for studies on the effectiveness of nonpharmacologic interventions in SSc. Randomized clinical trials (RCTs), controlled clinical trials (CCTs), and observational designs (ODs) with ≥10 participants were included. Two reviewers independently assessed methodologic quality using the Downs and Black checklist.Results: Twenty-three studies (9 RCTs, 4 CCTs, and 10 ODs) were included. Studies assessing comparable interventions were grouped, resulting in data for 16 different interventions. The total number of patients included per study ranged from 10 to 53. Seventeen different outcome domains were assessed, with hand function, limitations in activities, and quality of life being assessed most frequently. Three studies, all RCTs, were rated as high quality. These RCTs reported that 1) a multifaceted oral health intervention improves mouth hygiene, and additional orofacial exercises did not improve mouth opening, 2) a multidisciplinary team-care program improves limitations in activities, mouth opening, and hand grip strength, and 3) manual lymph drainage improves hand function, limitations in activities, and quality of life.Conclusion: The body of knowledge regarding nonpharmacologic care in SSc is very limited due to the wide variety in studied interventions and outcomes in the relatively uncommon but highly disabling disease. To structure and focus future research, an international consensus should be established to prioritize primary targets for nonpharmacologic treatment and the content of interventions and to agree on a core set of outcome measures. [ABSTRACT FROM AUTHOR]

Background Dysgenetic polycystic salivary gland disease is a rare pathology. No case of minor salivary gland involvement has been reported in the literature. Methods A female patient presented with bilateral tumors of the parotid glands, bilateral submandibular gland enlargement, and multiple cystic lesions of the oral mucosa. MRI of the neck was performed along with fine-needle aspiration (FNA) of the parotid tumors and excisional biopsy of an oral lesion. Results Imaging and FNA findings of the parotid glands were suggestive of bilateral Warthin tumors. Excisional biopsy of the oral lesion revealed a minor salivary gland with histopathological features of dysgenetic polycystic salivary gland disease. Submandibular gland enlargement was also attributed to this rare entity based on the imaging characteristics. Conclusion This is the first report of dysgenetic polycystic salivary gland disease of the minor salivary glands, combined with involvement of the submandibular glands and bilateral Warthin tumors of the parotid gland. © 2016 Wiley Periodicals, Inc. Head Neck 38: E2437-E2439, 2016 [ABSTRACT FROM AUTHOR]