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1.
J Community Health Nurs ; 40(4): 266-272, 2023 Oct 02.
Article in English | MEDLINE | ID: mdl-37310163

ABSTRACT

PURPOSE: This study evaluated the effectiveness of a community-based, interdisciplinary, medication education intervention for rural older adults. METHODS: The research design was a quasi-experimental pretest/posttest design. Self-efficacy, adherence to refills and medication, and knowledge were examined. An educational intervention was conducted with each participant on their prescribed medications. FINDINGS: Mean scores for the adherence to refills and medication subscale decreased from 9.9 to 8.5 (p = .003) indicating improved adherence. Mean scores for the knowledge subscale increased from 21.8 to 22.4 (p = .192). CONCLUSIONS: Results suggest a community-based, interdisciplinary, individualized medication education intervention could increase medication adherence in rural older adults.


Subject(s)
Health Education , Medication Adherence , Humans , Aged , Educational Status , Rural Population
2.
J Contin Educ Nurs ; 52(10): 482-488, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34609251

ABSTRACT

BACKGROUND: An asynchronous online continuing education (CE) program was created to increase nurses' awareness and knowledge of occupationally related mental health issues among farmers. METHOD: The ADDIE (analysis, design, development, implementation, evaluation) model was followed to create the CE program. Articulate Storyline 3 (Articulate 360), a software tool, was used to build an interactive, e-learning, and virtual training module. RESULTS: The course was completed by 113 nurses. Eighty-two (72.5%) of these nurses completed the course evaluation. Of these, 69 (84.1%) reported that the course met their expectations. The majority of respondents indicated that the material was presented in a clear, organized manner (80.0%, n = 80) and that all course objectives were met, including being able to identify sources of stress among farmers (86.3%, n = 80), recognize manifestations of stress among farmers (86.4%, n = 81), understand farmers' mental health status (86.3%, n = 80), and identify mental health nursing practices (87.3%, n = 79). CONCLUSION: Nurses can provide more salient care to the farming population when they are equipped with an understanding of the culture and stress associated with farming. This online educational program has the potential to improve mental health care for farmers and their families. [J Contin Educ Nurs. 2021;52(10):482-488.].


Subject(s)
Education, Distance , Nurses , Education, Nursing, Continuing , Farmers , Humans , Mental Health
3.
J Gerontol Nurs ; 47(4): 7-12, 2021 Apr.
Article in English | MEDLINE | ID: mdl-34038247

ABSTRACT

This process evaluation of the Rural Elder Awareness of Medication Safety (REAMS) program provided identification of successful and unsuccessful elements along with barriers to and facilitators of this home-based pilot program. The REAMS program was developed to assist rural older adults aged >65 years and community health care organizations with strategies to improve health literacy related to medications. Recruitment of older adults, rurality of the program's setting, time constraints, and the onset of the COVID-19 pandemic were the greatest barriers. The collaborative relationship developed with community health care partners was the greatest facilitator. This relationship promoted shared ideas and adjustments in program design to achieve the outcome goals. The lessons learned from process evaluation may benefit future researchers or community health promotion planners with designing community-based programs for older adults in rural areas. Future research should focus on expanding recruitment opportunities in acute care, primary care, and home health with the inclusion of all established health care providers in the community. [Journal of Gerontological Nursing, 47(4), 7-12.].


Subject(s)
Frail Elderly , Health Literacy , Home Care Services/organization & administration , Patient Education as Topic/methods , Patient Medication Knowledge , Patient Safety , Rural Health Services/organization & administration , Aged , Aged, 80 and over , Female , Humans , Male , Pilot Projects , Rural Population , United States
4.
Dalton Trans ; 46(45): 15704-15709, 2017 Nov 21.
Article in English | MEDLINE | ID: mdl-29094739

ABSTRACT

A novel, facile and efficient method was developed for the activation of acetic acid modulated zirconium MOFs. The protocol involves briefly heating the material in water using microwave irradiation. MOF-808, DUT-84 and UiO-66 were all activated in this manner to remove the modulator and organic solvent from the framework post synthesis, with retention of MOF integrity post activation. The degree of activation was characterised by the use of TGA and NMR. The catalytic activity of the activated MOFs and their non-activated counterparts was investigated for chemical warfare agent (CWA) hydrolysis. Upon activation, an increase in the rate of hydrolysis was observed in the degradation of CWA simulant dimethyl 4-nitrophenyl phosphate (DMNP). MOF-808 and DUT-84 were also screened as catalysts for the hydrolysis of the V-series agent VM, with remarkable half-lives obtained for MOF-808 in the absence of any buffers. Currently employed MOF activation procedures involve the use of additional organic solvents post synthesis; we believe this method to be ideally efficacious for the organic desolvation of zirconium MOFs and removing modulator additives.

5.
Nurs Educ Perspect ; 38(4): 198-200, 2017.
Article in English | MEDLINE | ID: mdl-28628069

ABSTRACT

Prolonged sitting time (ST) is a distinct risk factor for early mortality and cardiovascular disease. The purpose of this descriptive correlational study was to examine ST and health of Kentucky nurse educators. The written survey included demographic items, general health items, and ST. Total average ST was 10.8 hours (workdays) and 8 hours (non-workdays). There was no relationship between body mass index and ST; however, the medication used to treat hypertension and hypercholesterolemia was associated with increased ST. Nurse educators are at risk for negative health effects of prolonged ST, and effective interventions are imperative.


Subject(s)
Faculty, Nursing , Sedentary Behavior , Humans , Risk Factors , Surveys and Questionnaires
6.
Neuromuscul Disord ; 24(8): 707-12, 2014 Aug.
Article in English | MEDLINE | ID: mdl-24951453

ABSTRACT

The spectrum of RYR1 mutation associated disease encompasses congenital myopathies, exercise induced rhabdomyolysis, malignant hyperthermia susceptibility and King-Denborough syndrome. We report the clinical phenotype of two siblings who presented in infancy with hypotonia and striking fatigable ptosis. Their response to pyridostigimine was striking, but genetic screening for congenital myasthenic syndromes was negative, prompting further evaluation. Muscle MRI was abnormal with a selective pattern of involvement evocative of RYR1-related myopathy. This directed sequencing of the RYR1 gene, which revealed two heterozygous c.6721C>T (p.Arg2241X) nonsense mutations and novel c.8888T>C (p.Leu2963Pro) mutations in both siblings. These cases broaden the RYR1-related disease spectrum to include a myasthenic-like phenotype, including partial response to pyridostigimine. RYR1-related myopathy should be considered in the presence of fatigable weakness especially if muscle imaging demonstrates structural abnormalities. Single fibre electromyography can also be helpful in cases like this.


Subject(s)
Cholinesterase Inhibitors/therapeutic use , Myotonia Congenita/drug therapy , Myotonia Congenita/genetics , Pyridostigmine Bromide/therapeutic use , Ryanodine Receptor Calcium Release Channel/genetics , Biopsy , Codon, Nonsense , Female , Humans , Infant , Magnetic Resonance Imaging , Male , Muscle Fatigue/drug effects , Muscle Fatigue/physiology , Muscles/drug effects , Muscles/pathology , Muscles/physiopathology , Myotonia Congenita/pathology , Myotonia Congenita/physiopathology , Siblings , Treatment Outcome
7.
Neuromuscul Disord ; 24(4): 347-52, 2014 Apr.
Article in English | MEDLINE | ID: mdl-24491485

ABSTRACT

The aim of this prospective longitudinal multi centric study was to evaluate the correlation between the Hammersmith Functional Motor Scale and the 20 item version of the Motor Function Measure in non ambulant SMA children and adults at baseline and over a 12 month period. Seventy-four non-ambulant patients performed both measures at baseline and 49 also had an assessment 12 month later. At baseline the scores ranged between 0 and 40 on the Hammersmith Motor function Scale and between 3 and 45 on the Motor Function Measure 20. The correlation between the two scales was 0.733. The 12 month changes ranged between -11 and 4 for the Hammersmith and between -11 and 7 for the Motor Function Measure 20. The correlation between changes was 0.48. Our results suggest that both scales provide useful information although they appeared to work differently at the two extremes of the spectrum of abilities. The Hammersmith Motor Function Scale appeared to be more suitable in strong non ambulant patients, while the Motor Function Measures appeared to be more sensitive to capture activities and possible changes in the very weak patients, including more items capturing axial and upper limb activities. The choice of these measures in clinical trials should therefore depend on inclusion criteria and magnitude of expected changes.


Subject(s)
Disability Evaluation , Motor Activity , Muscular Atrophy, Spinal/diagnosis , Adolescent , Adult , Child , Child, Preschool , Europe , Follow-Up Studies , Humans , Longitudinal Studies , Muscular Atrophy, Spinal/physiopathology , Prospective Studies , Reproducibility of Results , Sensitivity and Specificity , Young Adult
8.
Eur J Pain ; 18(6): 785-93, 2014 Jul.
Article in English | MEDLINE | ID: mdl-24218076

ABSTRACT

BACKGROUND: Both nerve growth factor (NGF) and ultraviolet-B (UV-B) irradiation sensitize nociceptive nerve endings and increase axonal excitability of nociceptors. Combining NGF and UV-B treatment is supra-additive for sensory sensitization and even caused spontaneous pain in about 70% of the subjects. METHODS: UV-B irradiation was performed at day 21 after intradermal NGF injection in 13 volunteers. Pain thresholds, electrically induced axon reflex erythema and pain (1.5-fold pain threshold, 5-100 Hz) was analysed at days 22, 24, 28, 35, 49 and 70 and correlated to hyperalgesia and spontaneous pain. RESULTS: Electrical pain threshold after combined NGF/UVB was reduced below single treatment at 24 h but not at 72 h post-UV-B irradiation. At the NGF/UV-B site, electrical pain was enhanced at all frequencies compared with single NGF and UV-B sites at 24 and 72 h with pain ratings exceeding control values about twofold to threefold [65 ± 7 vs. 25 ± 8 visual analogue scale (VAS) (24 h) and 55 ± 9 vs. 22 ± 5 VAS (72 h)]. Hyperalgesia to electrical stimulation correlated with hyperalgesia to pinprick (Spearman r = 0.44; p < 0.001, Bonferroni corr.) and supra-threshold heat (Spearman r = 0.55; p < 0.001) stimulation at 24 h only. Electrical pain thresholds at the NGF/UV-B site weakly correlated to spontaneous pain levels (Spearman r = 0.3; p = 0.025, without Bonferroni correction). In contrast, electrically induced pain or axon reflex erythema did not correlate to spontaneous pain levels. CONCLUSIONS: The combination of NGF and UV-B increases axonal excitability that contributes to hyperalgesia and might also facilitate ongoing spontaneous pain.


Subject(s)
Axons , Hyperalgesia/etiology , Nerve Growth Factor/pharmacology , Pain Threshold , Skin , Ultraviolet Rays , Adult , Axons/drug effects , Axons/physiology , Axons/radiation effects , Central Nervous System Sensitization/drug effects , Humans , Hyperalgesia/chemically induced , Inflammation/etiology , Male , Middle Aged , Nerve Growth Factor/administration & dosage , Pain Measurement/instrumentation , Pain Measurement/methods , Pain Threshold/drug effects , Pain Threshold/physiology , Pain Threshold/radiation effects , Skin/drug effects , Skin/physiopathology , Skin/radiation effects , Ultraviolet Rays/adverse effects
9.
Neuromuscul Disord ; 23(8): 624-8, 2013 Aug.
Article in English | MEDLINE | ID: mdl-23809874

ABSTRACT

The aim of our longitudinal multicentric study was to establish the changes on the 6min walk test (6MWT) in ambulant SMA type III children and adults over a 12month period. Thirty-eight ambulant type III patients performed the 6MWT at baseline and 12months after baseline. The distance covered in 6min ranged between 75 and 510m (mean 294.91, SD 127) at baseline and between 50 and 611m (mean 293.41m, SD 141) at 12months. The mean change in distance between baseline and 12months was -1.46 (SD 50.1; range: -183 to 131.8m). The changes were not correlated with age or baseline values (p>.05) even though younger patients reaching puberty, had a relatively higher risk of showing deterioration of more than 30m compared to older patients. Our findings provide the first longitudinal data using the 6MWT in ambulant SMA patients.


Subject(s)
Exercise Test , Exercise Therapy/methods , Spinal Muscular Atrophies of Childhood/rehabilitation , Adolescent , Adult , Analysis of Variance , Atrophy , Child , Child, Preschool , Female , Humans , International Cooperation , Longitudinal Studies , Male , Middle Aged , Outcome Assessment, Health Care , Spinal Muscular Atrophies of Childhood/etiology , Walking , Young Adult
10.
Animal ; 7(11): 1875-83, 2013 Nov.
Article in English | MEDLINE | ID: mdl-23896042

ABSTRACT

The effects of feeding total mixed ration (TMR) or pasture forage from a perennial sward under a management intensive grazing (MIG) regimen on grain intake and enteric methane (EM) emission were measured using chambers. Chamber measurement of EM was compared with that of SF6 employed both within chamber and when cows grazed in the field. The impacts of the diet on farm gate greenhouse gas (GHG) emission were also postulated using the results of existing life cycle assessments. Emission of EM was measured in gas collection chambers in Spring and Fall. In Spring, pasture forage fiber quality was higher than that of the silage used in the TMR (47.5% v. 56.3% NDF; 24.3% v. 37.9% ADF). Higher forage quality from MIG subsequently resulted in 25% less grain use relative to TMR (0.24 v. 0.32 kg dry matter/kg milk) for MIG compared with TMR. The Fall forage fiber quality was still better, but the higher quality of MIG pasture was not as pronounced as that in Spring. Neither yield of fat-corrected milk (FCM) which averaged 28.3 kg/day, nor EM emission which averaged 18.9 g/kg dry matter intake (DMI) were significantly affected by diet in Spring. However, in the Fall, FCM from MIG (21.3 kg/day) was significantly lower than that from TMR (23.4 kg/day). Despite the differences in FCM yield, in terms of EM emission that averaged 21.9 g/kg DMI was not significantly different between the diets. In this study, grain requirement, but not EM, was a distinguishing feature of pasture and confinement systems. Considering the increased predicted GHG emissions arising from the production and use of grain needed to boost milk yield in confinement systems, EM intensity alone is a poor predictor of the potential impact of a dairy system on climate forcing.


Subject(s)
Air Pollutants/metabolism , Cattle/physiology , Dairying/methods , Feeding Behavior , Methane/metabolism , Animal Feed/analysis , Animals , Diet/veterinary , Gases/metabolism , Greenhouse Effect , Nova Scotia
11.
Neurology ; 76(24): 2073-8, 2011 Jun 14.
Article in English | MEDLINE | ID: mdl-21670436

ABSTRACT

OBJECTIVE: To assess the clinical course and genotype-phenotype correlations in patients with selenoprotein-related myopathy (SEPN1-RM) due to selenoprotein N1 gene (SEPN1) mutations for a retrospective cross-sectional study. METHODS: Forty-one patients aged 1-60 years were included. Clinical data including scoliosis, respiratory function, and growth measurements were collected by case note review. RESULTS: Mean age at onset was 2.7 years, ranging from birth to the second decade of life. All but 2 remained independently ambulant: one lost ambulation at age 5 years and another in his late 50s. The mean age of starting nocturnal noninvasive ventilation (NIV) was 13.9 years. One child required full-time NIV at the age of 1 year while in 2 cases NIV was started at 33 years. Two patients died from respiratory failure at the age of 10 and 22 years, respectively. The mean age at scoliosis onset was 10 years, in most cases preceded by rigidity of the spine. Fourteen patients had successful spinal surgery (mean age 13.9 years). Twenty-one were underweight; however, overt feeding difficulties were not a feature. CONCLUSIONS: This study describes the largest population affected by SEPN1-RM reported so far. Our findings show that the spectrum of severity is wider than previously reported. Respiratory insufficiency generally develops by 14 years but may occur as early as in infancy or not until the fourth decade. Motor abilities remain essentially static over time even in patients with early presentation. Most adult patients remain ambulant and fully employed.


Subject(s)
Genetic Association Studies , Muscle Proteins/genetics , Muscular Diseases/genetics , Muscular Diseases/physiopathology , Selenoproteins/genetics , Severity of Illness Index , Adolescent , Adult , Child , Child, Preschool , Cohort Studies , Cross-Sectional Studies , Female , Humans , Infant , Male , Middle Aged , Muscular Diseases/pathology , Mutation , Young Adult
12.
Neuromuscul Disord ; 20(3): 155-61, 2010 Mar.
Article in English | MEDLINE | ID: mdl-20074952

ABSTRACT

The motor skills of patients with spinal muscular atrophy, type I (SMA-I) are very limited. It is difficult to quantify the motor abilities of these patients and as a result there is currently no validated measure of motor function that can be utilized as an outcome measure in clinical trials of SMA-I. We have developed the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders ("CHOP INTEND") to evaluate the motor skills of patients with SMA-I. The test was developed following the evaluation of 26 infants with SMA-I mean age 11.5 months (1.4-37.9 months) with the Test of Infant Motor Performance and The Children's Hospital of Philadelphia Test of Strength in SMA, a newly devised motor assessment for SMA. Items for the CHOP INTEND were selected by an expert panel based on item mean and standard deviation, item frequency distribution, and Chronbach's alpha. Intra-rater reliability of the resulting test was established by test-retest of 9 infants with SMA-I over a 2 month period; Intraclass correlation coefficient (ICC) (3,1)=0.96. Interrater reliability was by video analysis of a mixed group of infants with neuromuscular disease by 4 evaluators; ICC (3,4)=0.98 and in a group of 8 typically developing infants by 5 evaluators ICC (3,5)=0.93. The face validity of the CHOP INTEND is supported by the use of an expert panel in item selection; however, further validation is needed. The CHOP INTEND is a reliable measure of motor skills in patients with SMA-I and neuromuscular disorders presenting in infancy.


Subject(s)
Child Development/physiology , Motor Skills/physiology , Psychometrics/methods , Severity of Illness Index , Spinal Muscular Atrophies of Childhood/diagnosis , Spinal Muscular Atrophies of Childhood/physiopathology , Child, Preschool , Disability Evaluation , Female , Humans , Infant , Male , Outcome Assessment, Health Care , Reproducibility of Results , Surveys and Questionnaires
13.
Neurology ; 73(1): 25-31, 2009 Jul 07.
Article in English | MEDLINE | ID: mdl-19564581

ABSTRACT

OBJECTIVE: To describe the course, complications, and prognosis of Ullrich congenital muscular dystrophy (UCMD), with special reference to life-changing events, including loss of ambulation, respiratory insufficiency, and death. METHODS: Review of the case notes of 13 patients with UCMD, aged 15 years or older at last visit, followed up at a tertiary neuromuscular centre, London, UK, from 1977 to 2007. Data collected were age at onset of symptoms, presenting symptoms, mobility, contractures, scoliosis, skin abnormalities, respiratory function, and feeding difficulties. RESULTS: The mean age at onset of symptoms was 12 months (SD 14 months). Eight patients (61.5%) acquired independent ambulation at a mean age of 1.7 years (SD 0.8 years). Nine patients (69.2%) became constant wheelchair users at a mean age of 11.1 years (SD 4.8 years). Three patients continued to ambulate indoors with assistance. Forced vital capacity (FVC) values were abnormal in all patients from age 6 years. The mean FVC (% predicted) declined at a mean rate of 2.6% (SD 4.1%) yearly. Nine patients (69.2%) started noninvasive ventilation at a mean age of 14.3 years (SD 5.0 years). Two patients died of respiratory insufficiency. CONCLUSION: In Ullrich congenital muscular dystrophy (UCMD), the decline in motor and respiratory functions is more rapid in the first decade of life. The deterioration is invariable, but not always correlated with age or severity at presentation. This information should be of help to better anticipate the difficulties encountered by patients with UCMD and in planning future therapeutic trials in this condition.


Subject(s)
Muscle Weakness/diagnosis , Muscular Dystrophies/diagnosis , Respiratory Paralysis/diagnosis , Adolescent , Adult , Age Distribution , Age of Onset , Child , Cohort Studies , Collagen Type VI/genetics , Comorbidity , Contracture/etiology , Contracture/physiopathology , Disability Evaluation , Disease Progression , Humans , Longitudinal Studies , Mobility Limitation , Mortality , Muscle Weakness/mortality , Muscle, Skeletal/metabolism , Muscle, Skeletal/pathology , Muscle, Skeletal/physiopathology , Muscular Dystrophies/congenital , Muscular Dystrophies/mortality , Mutation/genetics , Respiratory Paralysis/mortality , Severity of Illness Index , Vital Capacity/genetics , Young Adult
14.
Neuromuscul Disord ; 19(7): 458-61, 2009 Jul.
Article in English | MEDLINE | ID: mdl-19553120

ABSTRACT

The aim of this study was to investigate the suitability of the North Star Ambulatory Assessment as a possible outcome measure in multicentric clinical trials. More specifically we wished to investigate the level of training needed for achieving a good interobserver reliability in a multicentric setting. The scale was specifically designed for ambulant children with Duchenne Muscular Dystrophy and includes 17 items that are relevant for this cohort. Thirteen Italian centers participated in the study. In the first phase of the study we provided two training videos and an example of the scale performed on a child. After the first session of training, all the 13 examiners were asked to send a video with an assessment performed in their centre and to score all the videos collected. There were no difficulties in performing the items and in obtaining adequate videos with a hand held camera but the results showed a poor interobserver reliability (<.5). After a second training session with review and discussion of the videos previously scored, the same examiners were asked to score three new videos. The results of this session had an excellent interobserver reliability (.995). The level of agreement was maintained even when the same videos were rescored after a month, showing a significant intra-observer reliability (.95). Our results suggest that the NSAA is a test that can be easily performed, completed in 10 min and can be used in a multicentric setting, providing that adequate training is administered.


Subject(s)
Disability Evaluation , Mobility Limitation , Muscular Dystrophy, Duchenne/diagnosis , Muscular Dystrophy, Duchenne/rehabilitation , Outcome Assessment, Health Care/methods , Walking/physiology , Child , Child, Preschool , Cohort Studies , Data Interpretation, Statistical , Exercise Therapy/methods , Exercise Tolerance/physiology , Humans , Italy , Leg/physiopathology , Male , Muscle, Skeletal/physiopathology , Observer Variation , Physical Therapy Modalities , Predictive Value of Tests , Reproducibility of Results , Video Recording
15.
Eur J Paediatr Neurol ; 11(3): 160-6, 2007 May.
Article in English | MEDLINE | ID: mdl-17257866

ABSTRACT

OBJECTIVE: Scoliosis is a frequent complication (68-90%) of Duchenne muscular dystrophy (DMD). Prevention of limb deformities, rehabilitation in knee-ankle-foot-orthoses (KAFOs) and glucocorticoids prolong walking and standing, and might reduce scoliosis. We evaluated possible predictive factors for scoliosis development in a large DMD population. METHODS: Case notes of 123 DMD boys, > or = 17 years, followed at our centre between 1992 and 2002 were reviewed. Univariate analysis was used to relate two outcome measures (age at onset of scoliosis and severity at 17 years) with (i) glucocorticoids treatment; (ii) ages at (a) loss of independent ambulation, (b) rehabilitation into KAFOs, (c) loss of standing, (iii) forced vital capacity (FVC) (%) between 11 and 12 years and (iv) lower limb contractures. RESULTS: In total, 37/123 boys (30%) received intermittent prednisolone (0.75 mg/kg/day, 10 day/month) for a median 1-year (2 months-9 years), starting between 7.7 and 12.4 years (mean 9.5). About 96/123 (78%) were rehabilitated into KAFOs at 10.2+/-1.6 years. Age at loss of ambulation in KAFOs was 12.3+/-1.9 years and at loss of standing 12.8+/-2.1 years. About 95/123 (77%) boys developed scoliosis (Cobb angle >30 degrees ). Mean age+/-S.D. at scoliosis onset was 12.7+/-1.6 years. Forty-three boys (35%) had scoliosis surgery by 15+/-1.2 years. Later age at loss of ambulation (p<0.0001) and longer duration of prednisolone treatment (p=0.01) related to later scoliosis onset. Ages at loss of ambulation and standing were inversely related to scoliosis severity at 17 years (p<0.005). Hip asymmetry and %FVC at 11-12 years were directly related to scoliosis severity (p=0.02). CONCLUSIONS: Our data indicate a significant association between prolonged ambulation and a reduced risk of scoliosis development. Glucocorticoid administration, in our series, appear to be associated with a later onset of scoliosis, but did not alter the severity at 17 years, probably reflecting the shorter overall glucocorticoid exposure in this population.


Subject(s)
Muscular Dystrophy, Duchenne/complications , Scoliosis/etiology , Adolescent , Age Factors , Age of Onset , Disease Progression , Humans , Logistic Models , Male , Muscular Dystrophy, Duchenne/therapy , Predictive Value of Tests , Prednisolone/therapeutic use , Retrospective Studies , Risk Factors , Scoliosis/prevention & control
16.
Neuromuscul Disord ; 16(2): 93-8, 2006 Feb.
Article in English | MEDLINE | ID: mdl-16427782

ABSTRACT

The aim of this study was to validate the Hammersmith functional motor scale for children with spinal muscular atrophy in a large cohort of 90 non-ambulant children with spinal muscular atrophy type 2 or 3. All had a baseline assessment (T0) and were reassessed either at 3 months (T1) (n = 66) or at 6 months (T2) (n = 24). Inter-observer reliability, tested on 13 children among 3 examiners, was > 95%. Of the 66 children examined after 3 months 4 had adverse effects in between assessments and were excluded from the analysis. Forty-two (68%) of the remaining 62 reassessed had no variation in scores between T0 and T1 and 13 (21%) were within +/- 1 point. 9 (37.5%) of the 24 children reassessed after 6 months had no variation in scores between T0 and T2 and another 9 (37.5%) had variations within +/- 1 point. Our study confirms previous observations of the reliability of the scale and helps to establish a baseline for assessing changes of functional ability over 3 and 6 month intervals. This information can be valuable in view of therapeutic trials.


Subject(s)
Motor Neurons/physiology , Psychomotor Performance , Spinal Muscular Atrophies of Childhood/physiopathology , Child , Child, Preschool , Cohort Studies , Data Interpretation, Statistical , Female , Humans , Italy , Male , Observer Variation , Prospective Studies , Regression Analysis , Reproducibility of Results , Time Factors , United Kingdom
17.
Genes Immun ; 6(1): 24-30, 2005 Feb.
Article in English | MEDLINE | ID: mdl-15592421

ABSTRACT

Asthma is a complex inherited disease. The study was undertaken to identify the association of RANTES promoter polymorphisms with atopy and asthma using family-based association tests (FBATs) and generation-specific case-control analyses. We identified 154 nuclear families (453 individuals) in whom we established RANTES promoter status using the RFLP-PCR method. Of the two known promoter polymorphisms -403G/A and -28C/G, only the former appeared with a clinically relevant frequency. A total of 61 families were eligible for assessment of transmission of the allele with asthma and atopy by the pedigree disequilibrium test (PDT). Overall, allele frequency for -403A was 38.3% and 84 of 89 (94.3%) alleles were transmitted with physician diagnosed asthma (PDA) (P=0.001). All 89 children with atopy received the mutant allele, which was more than expected following Mendelian Laws of transmission (P=0.0001). In 303 unrelated parents, significant associations of the mutant allele were for atopy with or without asthma (P=0.001). In 150 unrelated children, significant associations were for atopy alone (P=0.001) and asthma (P=0.001). No associations were found for bronchial hyper-responsiveness (BHR). The -403 G --> A is transmitted with atopy and atopic asthma, although its contribution appears to relate more to atopy than asthma and BHR.


Subject(s)
Asthma/genetics , Chemokine CCL5/genetics , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Promoter Regions, Genetic , Adolescent , Adult , Alleles , Case-Control Studies , Child , Female , Gene Frequency/genetics , Humans , Male , Middle Aged
18.
Neuropediatrics ; 35(5): 262-6, 2004 Oct.
Article in English | MEDLINE | ID: mdl-15534757

ABSTRACT

Several studies have documented positive effects of beta-adrenergic agonists on human skeletal muscle with regard to muscle mass and strength. The aim of this pilot study was to evaluate the effect of the beta2-agonist salbutamol (albuterol) in a group of children with central core disease and multi-minicore disease. Thirteen patients, 8 with central core disease (mean age 17.5 years) and 5 with minicore disease (mean age 13.6 years) received oral salbutamol at a dose of 2 mg four times a day. Measures of efficacy were the change from baseline at 3 and 6 months in muscle strength, assessed by MRC score, myometry, functional measures and forced vital capacity. Statistical analysis was performed using repeated measures ANOVA (significance level < 0.05). Two patients with central core disease stopped the medication after one month because they did not notice any improvement and another one with minicore disease after 4 months because of increased tremors and palpitations. The remaining ten (6 with central core and 4 with minicore disease) completed the course of salbutamol without any significant adverse effects. There were significant increases in myometry, MRC scores and forced vital capacity between baseline and the six-month assessments. For both myometry and MRC the difference was already significant at 3 months and this was associated with a significant increase in functional abilities assessed with a structured functional scale. Our results suggest that salbutamol was overall well tolerated and might be beneficial in both central core and minicore patients. Larger prospective randomised, double-blind, placebo-controlled trials with salbutamol will be needed to confirm these preliminary findings.


Subject(s)
Adrenergic beta-Agonists/administration & dosage , Albuterol/administration & dosage , Myopathy, Central Core/drug therapy , Adolescent , Adult , Child , Child, Preschool , Cohort Studies , Drug Administration Schedule , Female , Humans , Male , Middle Aged , Muscle, Skeletal/physiopathology , Myopathy, Central Core/physiopathology , Pilot Projects , Range of Motion, Articular/physiology , Recovery of Function/physiology
19.
Br J Cancer ; 91(1): 50-5, 2004 Jul 05.
Article in English | MEDLINE | ID: mdl-15187995

ABSTRACT

Polymeric cytotoxic conjugates are being developed with the aim of preferential delivery of the anticancer agent to tumour. MAG-CPT comprises the topoisomerase I inhibitor camptothecin linked to a water-soluble polymeric backbone methacryloylglycynamide (average molecular weight 18 kDa, 10% CPT by weight). It was administered as a 30-min infusion once every 4 weeks to patients with advanced solid malignancies. The objectives of our study were to determine the maximum tolerated dose, dose-limiting toxicities, and the plasma and urine pharmacokinetics of MAG-CPT, and to document responses to this treatment. The starting dose was 30 mg m(-2) (dose expressed as mg equivalent camptothecin). In total, 23 patients received 47 courses at six dose levels, with a maximum dose of 240 mg m(-2). Dose-limiting toxicities were myelosuppression, neutropaenic sepsis, and diarrhoea. One patient died after cycle 1 MAG-CPT at the maximum dose. The maximum tolerated dose and dose recommended for further clinical study was 200 mg m(-2). The half-lives of both MAG-CPT and released CPT were prolonged (>6 days) and measurable levels of MAG-CPT were retrieved from plasma and urine 4 weeks after treatment. However, subsequent pharmacodynamic studies of this agent have led to its withdrawal from clinical development.


Subject(s)
Acrylamides/pharmacokinetics , Camptothecin/analogs & derivatives , Neoplasms/drug therapy , Acrylamides/administration & dosage , Acrylamides/adverse effects , Adult , Aged , Antineoplastic Agents, Phytogenic/pharmacokinetics , Diarrhea/chemically induced , Female , Humans , Infusions, Intravenous , Male , Maximum Tolerated Dose , Middle Aged , Neoplasms/metabolism , Neutropenia/chemically induced , Sepsis/chemically induced , Thrombocytopenia/chemically induced
20.
Clin Exp Allergy ; 34(4): 555-8, 2004 Apr.
Article in English | MEDLINE | ID: mdl-15080807

ABSTRACT

BACKGROUND: It has been suggested that acute infantile bronchiolitis associated with respiratory syncytial virus (RSV) may share some pathogenic features with atopic asthma in that virus-specific IgE is produced and cysteinyl leukotrienes (cLTs) and eosinophil cationic protein (ECP) have been detected in airway secretions. ECP is a specific marker of eosinophil activation although leukotrienes can be released from a variety of cells including mast cells, eosinophils and monocytes. OBJECTIVE: To test the association between eosinophil activation and cysteinyl leukotriene production in the upper airway secretions of infants with RSV positive (RSV+ve) bronchiolitis. METHODS: Nasal lavage samples were performed in 78 infants (0.0-11.5 months) admitted to hospital with RSV+ve bronchiolitis soon after admission (0-48 h). Leukotriene C4 (LTC4) was assayed by enzyme immunoassay (EIA) and eosinophil cationic protein (ECP) by fluoroimmunoassay (FIA). RESULTS: LTC4 was detectable in 51 and ECP in 57 of 78 samples with a significant positive relationship between LTC4 and ECP (r=0.557, P<0.001). CONCLUSION: In the majority of our subjects with RSV+ve bronchiolitis ECP and LTC4 were detectable in upper airway secretions and were significantly associated with each other. In this clinical setting much of the detected LTC4 within upper airway secretions is likely to originate from the eosinophil, an observation that may have implications for clinical management and for delineation of the underlying mechanisms associated with this illness.


Subject(s)
Bronchiolitis, Viral/immunology , Cysteine/biosynthesis , Eosinophils/immunology , Leukotrienes/biosynthesis , Respiratory Syncytial Virus Infections/immunology , Respiratory Syncytial Virus, Human , Blood Proteins/biosynthesis , Eosinophil Granule Proteins , Female , Humans , Infant , Infant, Newborn , Leukotriene C4/biosynthesis , Male , Nasal Lavage Fluid/immunology , Ribonucleases/biosynthesis
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