Objective. To examine patients' beliefs about systemic sclerosis (SSc) and to investigate the relationship between these beliefs, symptom report, and clinical and demographic variables. Methods. A total of 49 patients (7 male, 42 female) with SSc underwent clinical examination and completed the Revised Illness Perception Questionnaire. This measure assesses beliefs about symptoms, chronicity or recurrence of the condition, consequences, personal and treatment control, illness coherence, perceived causes of the condition, and patients' emotional response to their condition. Results. The symptoms patients most frequently associated with their SSc were stiff joints (79%), pain (75%), and fatigue (75%). The most commonly reported causes of SSc were stress (53%), altered immunity (49%), and chance or bad luck (46%). More than 96% of patients believed that their condition would be chronic and 78% believed that the condition had serious consequences on their lives. Patients with diffuse cutaneous SSc reported more significant consequences of the condition and less personal control of their SSc compared with patients with limited cutaneous disease. There were no significant differences in illness beliefs between patients with nonsevere and severe ischemia. Multiple regression analyses indicated that illness beliefs, in particular perceived consequences associated with the condition, accounted for a significant proportion of the variance in emotional response to the condition. Conclusions. The beliefs held and symptoms experienced by patients with SSc are not ruled by disease subtype, skin score, functional ability, or severity of digital ischemia. This suggests patients' beliefs and emotional response are associated with the meaning they ascribe to their condition rather than its severity.
There is a considerable unmet disease burden within rural districts of Nepal particularly for stomach pain, musculoskeletal pain and visual acuity problems. When planning similar rurally based health camps, we recommend recruiting GPs and ophthalmologists.
Onasemnogene abeparvovec (formerly AVXS-101), a one-time intravenous AAV9-based gene therapy, addresses the genetic root cause of spinal muscular atrophy type 1 (SMA1). We report preliminary data from the phase 3 STR1VE-EU (2017-000266-29/NCT03461289) study evaluating efficacy and safety of onasemnogene abeparvovec infusion. STR1VE-EU is an ongoing, multicenter, open-label, single-arm, single-dose study in SMA1 patients aged <6 months (biallelicSMN1mutations, 1–2xSMN2). Outcomes: independent sitting ≥10 seconds throughout 18 months; survival (no death/permanent ventilation) at 14 months. Enrollment is complete (31 May 2019; N=33, all 2xSMN2). Mean age at dosing: 4.1 (1.4–6) months. Mean baseline CHOP INTEND score: 28 (14–55). Mean time in study: 4.8 (0.4–9.2) months. At baseline, 9/33 (27%) patients required nutritional support and 7/33 (17%) required ventilatory support. Relative to baseline, mean CHOP INTEND score increased 6.4,10.6, and 12.3 points at 1, 3, and 5 months post-dosing, respectively. Overall, 32 patients were surviving without permanent ventilation, including 9/10 patients who reached 10.5 months of age or experienced an event. One patient died (age 6.8 months, hypoxic- ischemic brain injury secondary to respiratory tract infection due to SMA1). Interim data from the ongoing STR1VE-EU study shows that onasemnogene abeparvovec has therapeutic benefit in patients with SMA1.1ik4ausar078@avexis.com
was 1 per 614. One third of these children develops DRE and half have GDD. Aetiology can be identified in 54%. Identification of aetiology is associated with DRE and GDD.
A set of twin brothers with Klinefelter's syndrome were seen in community paediatric clinic following concern about severe learning disabilities requiring special educational needs school.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.