Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence <5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT-NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT-NMD. For the DMD registries within TREAT-NMD, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the TREAT-NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.
Abstract Objective The Global FKRP Registry is a database for individuals with conditions caused by mutations in the Fukutin‐Related Protein ( FKRP ) gene: limb girdle muscular dystrophy R9 (LGMDR9, formerly LGMD2I) and congenital muscular dystrophies MDC1C, Muscle–Eye–Brain Disease and Walker–Warburg Syndrome. The registry seeks to further understand the natural history and prevalence of FKRP‐related conditions; aid the rapid identification of eligible patients for clinical studies; and provide a source of information to clinical and academic communities. Methods Registration is patient‐initiated through a secure online portal. Data, reported by both patients and their clinicians, include: age of onset, presenting symptoms, family history, motor function and muscle strength, respiratory and cardiac function, medication, quality of life and pain. Results Of 663 registered participants, 305 were genetically confirmed LGMDR9 patients from 23 countries. A majority of LGMDR9 patients carried the common mutation c.826C > A on one or both alleles; 67.9% were homozygous and 28.5% were compound heterozygous for this mutation. The mean ages of symptom onset and disease diagnosis were higher in individuals homozygous for c.826C > A compared with individuals heterozygous for c.826C > A. This divergence was replicated in ages of loss of running ability, wheelchair‐dependence and ventilation assistance; consistent with the milder phenotype associated with individuals homozygous for c.826C > A. In LGMDR9 patients, 75.1% were currently ambulant and 24.6%, nonambulant (unreported in 0.3%). Cardiac impairment was reported in 23.2% (30/129). Interpretation The Global FKRP Registry enables the collection of patient natural history data, which informs academics, healthcare professionals and industry. It represents a trial‐ready cohort of individuals and is centrally placed to facilitate recruitment to clinical studies.
Summary The aim of this systematic review was to evaluate the efficacy of amino acid‐based formulas (AAF) in patients with cow's milk allergy (CMA). Studies were identified using electronic databases and bibliography searches. Subjects eligible for inclusion were patients of any age with CMA or symptoms suggestive of it. Comparisons of interest were AAF vs. extensively hydrolysed formula (eHF), AAF vs. soy‐based formula (SF) and AAF vs. cow's milk or cow's milk‐based formula. Outcomes of interest were gastrointestinal (GI), dermatological, respiratory and behavioural symptoms as well as growth. A total of 20 studies [three head‐to‐head randomized controlled trials (RCTs), three cross‐over challenge RCTs, seven clinical trials (CTs) and seven case reports (CRs)] were included in the review. In infants with confirmed or suspected CMA, the use of an AAF was shown to be safe and efficacious. Findings from RCT comparisons of AAF with eHF showed that both formulas are equally efficacious at relieving the symptoms of CMA in confirmed or suspected cases. However, infants in specific subgroups (e.g. non‐IgE mediated food‐induced gastro‐enterocolitis‐proctitis syndromes with failure to thrive, severe atopic eczema, or with symptoms during exclusive breastfeeding) were more likely overall to benefit from AAF, as intolerance to eHF may occur. In such cases, symptoms persisting despite eHF feeding usually remit on AAF, and catch‐up growth may be seen. Meta‐analysis of the findings was not possible due to lack of homogenous reporting of outcomes in the original trials. This systematic review shows clinical benefit from use of AAF in both symp̂toms and growth in infants and children with CMA who fail to tolerate eHF. Further studies are required to determine the relative medical or economic value of initial treatment with AAF in infants at high risk of eHF intolerance.
A fluorescent sensor has been synthesized that comprises a pyrene moiety tethered to a [2,2′:6′,2″]-terpyridyl ligand via a diethynylated thiophene linker. This multicomponent supermolecule is highly emissive in solution but addition of Zn2+ cations results in a drastic decrease in the fluorescence yield. Complexation between Zn2+ cations and the vacant terpyridyl ligand has been confirmed by NMR spectroscopy and by electrospray mass spectrometry. The ES-MS results provide strong support for the formation of both 1 ∶ 1 and 1 ∶ 2 (metal ∶ ligand) complexes in solution. Complexation is further evidenced by a pronounced shift in the absorption spectrum, by the appearance of a long-wavelength band in the fluorescence spectrum and by cyclic voltammetry. On the basis of UV-visible spectrophotometric titrations, overall binding constants of logβ1 ≈ 5.1 and logβ2 ≈ 9.9 were derived for the 1 ∶ 1 and 1 ∶ 2 complexes, respectively, in acetonitrile solution. The possible application of this system as a generic chemical sensor for cationic species is mentioned.
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Responsibility for self-care is the purview of the pregnant woman. Her self-care behaviors are influenced by her quest for a healthy pregnancy and by her health care providers and social network. Our purpose in this descriptive ex post facto study was to examine women's reported self-care behaviors during pregnancy. The 100 women in the study sample reported engaging in selfcare behaviors that were both positive and negative. More than half of the women reported activities to keep healthy that included walking or jogging, 48 changed their diets, 25 reported working out, exercising, and/or meditating. Of the 32 women experiencing a medical problem with their pregnancies, none reported engaging in behaviors to keep healthy. Assessing reported self-care behaviors early in pregnancy might help identify women who can benefit from advice about self-care strategies to increase their chances of healthy outcomes.
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