Spinal muscular atrophy (SMA) is a progressive genetic disorder characterized by muscle weakness ultimately leading to pulmonary impairments that can be fatal. The recent approval of nusinersen, a disease-modifying therapy, substantially changed the prognosis for patients, particularly in children. However, real-world evidence about its long-term effectiveness in adults remains limited. This study aimed to document longitudinal data on motor function, pulmonary function and patient-reported outcome measures of Canadian adults with SMA type 2 and 3 treated with nusinersen.

Outcomes from 17 patients were collected at the Institut de réadaptation en déficience physique de Québec during routine clinical visits over 36 months post nusinersen treatment, using the Hammersmith Functional Motor Scale Expanded for SMA (HFMSE), Revised Upper Limb Module (RULM), 6-Minute Walk Test (6MWT), Children’s Hospital of Philadelphia Adult Test of Neuromuscular Disorders (CHOP-ATEND), SMA functional rating scale (SMAFRS), pulmonary function testing and subjective changes reported by patients.

After 36 months, 9 patients showed motor function improvement. Changes beyond the minimal clinically important difference were seen for four patients on the HFMSE, four patients on the RULM and five patients on the 6MWT. Pulmonary function remained stable for most subjects. Subjective positive changes were reported in 88% of patients and five patients showed improvement in the SMAFRS.

This real-world study demonstrates the positive effects of nusinersen in adults with SMA types 2 and 3. Although stabilizing the patient’s condition is considered therapeutic success, this study shows an improvement in motor function and subjective gains in several patients.

A transannular patch is often used in the contemporary surgical repair of tetralogy of Fallot. This can lead to significant pulmonary insufficiency and increased right ventricular volumes and ultimately pulmonary valve replacement. Cardiopulmonary exercise testing is used to assess exercise capacity in tetralogy of Fallot patients before pulmonary valve replacement. There is only few published literatures on how lung function affects functional capacity in tetralogy of Fallot patients repaired with a transannular patch.

A retrospective chart review was done from 2015 to 2017 on patients with tetralogy of Fallot who underwent maximal effort cardiopulmonary exercise testing with cycle ergometry and with concurrent pulmonary function testing. Tetralogy of Fallot patients repaired with a transannular patch without pulmonary valve replacement were compared with age, gender, and size-matched normal controls.

In the tetralogy of Fallot group, 24 out of 57 patients underwent primary repair with a transannular patch. When compared to the normal controls, they demonstrated abnormal predicted forced expiratory volume in one second (79 ± 23.1% versus 90.7 ± 14.1%, p<0.05), predicted maximal voluntary ventilation (74 ± 18% versus 90.5 ± 16.2%, p<0.05) while having low-normal predicted forced vital capacity (80.5 ± 17.2% versus 90.2 ± 12.4%, p<0.05) and normal breathing reserve percentage (50.3 ± 11.3% versus 47.5 ± 17.3%, p = 0.52). Cardiopulmonary exercise testing abnormalities included significantly lower percent predicted oxygen consumption (63.2 ± 12.2% versus 87 ± 12.1%, p<0.05), maximal heart rate (171.8 ± 18.9 versus 184.6 ± 13.6, p<0.05), and percent predicted maximum workload (61.7 ± 15.9% versus 88.3 ± 21.5%, p<0.05).

Tetralogy of Fallot patients repaired with a transannular patch can have abnormal pulmonary function testing with poor exercise capacity in addition to chronotropic incompetence and impaired muscular power.

To evaluate the association between weight gain in the first two years of life and the occurrence of wheezing, asthma, serum IgE, skin reactivity and pulmonary function.

Cohort study.

The metropolitan region of Salvador, Bahia, Brazil.

The association was studied between 1997 and 2005 in 669 children up to 11 years of age. Data were collected on asthma and risk factors, both current factors and those present in the first years of life. Weight gain was considered fast when the Z-score was >0·67. Poisson regression was used in the multivariate statistical analysis.

Wheezing was reported in 25·6 % of the children. Weight gain was considered fast (Z-score >0·67) in 29·6 % of the children and slow (Z-score <−0·67) in 13·9 %. Children in the slow weight gain group had 36 % fewer symptoms of asthma (prevalence ratio = 0·65; 95 % CI 0·42, 0·99).

Slower weight gain in the early years of life may constitute a protective factor against symptoms of asthma. The relevance of this finding for public health is not yet certain, since it is known that children with slow and fast weight gain may be more likely to develop adverse health consequences related to both these situations.

A limited but growing body of evidence supports a significant role of antioxidant and anti-inflammatory micronutrients in pulmonary health. We investigated the associations of dietary and supplemental intakes of vitamins A, C, E and D, Se and n-3 PUFA with pulmonary function in a population-based study.

Population-based, cross-sectional study and data analysis of fruits and vegetables, dairy products and fish, vitamins A, C, E and D, Se and n-3 PUFA supplemental intakes, pulmonary risk factors and spirometry.

Chinese older adults (n 2478) aged 55 years and above in the Singapore Longitudinal Ageing Studies.

In multiple regression models that controlled simultaneously for gender, age, height, smoking, occupational exposure and history of asthma/chronic obstructive pulmonary disease, BMI, physical activity, and in the presence of other nutrient variables, daily supplementary vitamins A/C/E (b = 0·044, se = 0·022, P = 0·04), dietary fish intake at least thrice weekly (b = 0·058, se = 0·016, P < 0·0001) and daily supplementary n-3 PUFA (b = 0·068, se = 0·032, P = 0·034) were individually associated with forced expiratory volume in the first second. Supplemental n-3 PUFA was also positively associated with forced vital capacity (b = 0·091, se = 0·045, P = 0·045). No significant association with daily dairy product intake, vitamin D or Se supplements was observed.

The findings support the roles of antioxidant vitamins and n-3 PUFA in the pulmonary health of older persons.

We studied symptomatic radiation pneumonitis (RP) and changes in pulmonary function tests (PFTs) after loco-regional radiotherapy (LRRT) with V20 lung constraints in breast cancer (BC).

Sixty-four women underwent PFTs before and 5 months after 3D planned LRRT for BC. The incidentally irradiated ipsilateral lung V20 was minimised to <30%. Patients were monitored for symptoms of RP 1, 4 and 7 months after radiotherapy (RT) and data on covariates were collected prospectively. The outcome was compared with previous treatment series.

Pneumonitis was less frequent with the applied constraint, that is, four mild and one moderate case, than in our previous report (p < 0·001). In multivariate analyses, neither dosimetric data nor covariates appeared to influence mean changes in vital capacity [−0·11L, standard error of the mean (SEM) 0·03] or diffusing capacity of the lung for carbon monoxide (DLCO) (−0·20 mmol/kPa/min, SEM 0·01), except for pre-RT chemotherapy, which diminished the change in DLCO 5 months post-RT.

The used constraint and 3D planning lowered the rate of RP and short-term changes in PFTs compared with our previous treatment series. Pre-RT chemotherapy affects DLCO baseline levels. Rates of side effects should be continuously studied when new target definitions or therapies are introduced in LRRT of BC.