BACKGROUND: LAMA2-related dystrophies (LAMA2-RD) are a rare group of neuromuscular disorders with a broad spectrum of phenotype severity, ranging from mild to severe. We performed a cross-sectional study of LAMA2-RD through motor function and pulmonary tests to establish the disease\'s natural history.
METHODS: Forty-four individuals with LAMA2-RD were included and evaluated once through functional outcome measures including Motor Function Measure 32 (MFM32), Revised Upper Limb Module (RULM), goniometry, and Forced Vital Capacity (FVC). Fixed Effect Regression Model (ERM) and Kaplan-Meier curve were used for calculating the rate of the disease progression RESULTS: Patients were between 2 and 25 years old (mean 11.4), the most frequent phenotype presentation was non-ambulant (N=36, 81.8%) while eight patients (18,2 %) were ambulant. The non-ambulant group presented a more severe progression of the disease. Non-ambulant patients had a 1.85 % decrease in FVC/year against 1.32 %/year among ambulant patients. In the non-ambulant group, there was a 4.2 % drop/year in the MFM32-D2 domain (p<0.00001), a 2.6 % drop/year in the D3 domain (p<0.0001), and a 2.7 % drop/year in the MFM32 global assessment (p<0.0001). However, the non-ambulant group\'s evaluation of upper limb function through the RULM scale did not show a statistically significant reduction. In the non-ambulant group, elbow and knee retractions worsened 3.22 degrees/year (p=0.00087) and 1.92 degrees/year, respectively. While in those patients who acquired gait, elbow and knee retractions worsened 2.45 degrees/year (p=0.0003) and 1.73 degrees/year (p=0.01), respectively.
CONCLUSIONS: This study confirmed the progressive nature of LAMA2-RD, both in ambulant and non-ambulant patients. MFM32, FVC, and goniometry were identified as promising outcome measures for natural history studies and clinical trials in LAMA2-RD.

OBJECTIVE: The aim of this study was to determine the disturbances in the concentration of parathyroid hormone (PTH) and 25-hydroxyvitamin D (vitamin D) in patients with stable chronic obstructive pulmonary disease (COPD) and its correlation with airflow obstruction.
METHODS: A prospective study included 200 patients with a confirmed diagnosis of COPD in the Department of Lung Diseases and Tuberculosis and Pulmonology Polyclinic of University Clinical Hospital Mostar in the period of three years, between May 2021 and May 2024. Inclusion criteria were a stable phase of COPD, hemodynamically stable patients older than 40 years, forced vital capacities in the first second (FEV1)/forced vital capacities (FVC) <0.7, and patients with PTH, vitamin D, calcium, and phosphate measurements. Exclusion criteria were acute exacerbation of COPD in the last month; current treatment with nutritional supplements, vitamins, and statins; lack of availability of lung function data; use of systemic corticosteroids in the previous three months; chronic renal insufficiency, respiratory diseases other than COPD (asthma, pneumonia, tuberculosis, and bronchiectasis), and other diseases (cancer and parathyroid disease). Medical records about demographic data (age and gender), pulmonary function test (FVC, FEV1, FEV1%FVC, mean expiratory flow (MEF)50), body mass index (BMI), COPD assessment test (CAT), Modified Medical Research Council (mMRC) Dyspnea Scale, and serum PTH, vitamin D, calcium, and phosphate levels were obtained.
RESULTS:  Patients with higher COPD stage had lower spirometry values, most significantly MEF50. The higher the COPD group (Global Initiative for Chronic Obstructive Lung Disease (GOLD) D), the lower vitamin D ​​and the higher PTH levels were. Calcium and phosphate values ​​were the same for all groups. Vitamin D and PTH levels significantly ​​correlated with MEF50 values. The lower MEF50 level, the higher PTH levels, ​​and lower vitamin D levels were found (P<0.05).
CONCLUSIONS: Our study showed that the patients in the higher COPD group have lower vitamin D levels ​​and higher PTH levels, indicating that they developed secondary hyperparathyroidism. The levels of vitamin D and PTH correlated the most with MEF50 values while other spirometry parameters did not significantly correlate with vitamin D and PTH levels.

OBJECTIVE: To investigate mean values of pulmonary function tests (PFT) at specific time points to assess long-term progression in patients with spinal cord injury (SCI).
METHODS: Retrospective cohort study from 1997-2022.
METHODS: National rehabilitation hospital, providing scheduled admission for potential SCI-related issues. Follow-up assessments are recommended annually, guiding the observation period into consecutive 1-year intervals.
METHODS: This study included 1394 adult patients who were admitted at least twice to the National Rehabilitation Center between 1997 and 2022, selected from an initial pool of 1510. Overall, 116 patients were excluded owing to the absence of any PFT results.
METHODS: Not applicable.
METHODS: Changes in PFT values over time, specifically assessing for a potential 2-phase pattern after injury. The hypothesis that PFT values would initially improve before declining was formulated based on existing literature.
RESULTS: Significant changes in pulmonary function were noted among 1394 adults with SCI. Forced vital capacity (FVC) and forced expiratory volume in one second (FEV1) initially increased within the first 1-2 years after injury but declined to below baseline levels after 6 years. Pronounced changes occurred between <1 year and 1-2 years after injury (FVC: Δ=4.89, SE=0.87, P<.001; FEV1: Δ=4.28, SE=1.09, P=.002) and 1-2 years to >6 years (FVC: Δ= -5.83, SE=0.94, P<.001; FEV1: Δ= -6.49, SE=1.18, P<.001). No significant changes in the FEV1/FVC ratio. Motor completeness was significantly associated with the increase and decline phase, showing a steeper increase and less decline compared with the motor-incomplete group.
CONCLUSIONS: Pulmonary function in SCI initially increases but declines over time, falling below initial levels by 6 years. Further evaluation with more complete datasets is warranted to elucidate the factors influencing these changes.

BACKGROUND: Baseline lung allograft dysfunction (BLAD) refers to a condition in which a lung transplant recipient does not achieve normal pulmonary function (i.e., forced expiratory volume in 1 s or forced vital capacity of <80% of predicted values). Although BLAD is reportedly associated with a poor prognosis, the condition has not been examined in Japanese patients.
METHODS: In this study, we retrospectively examined 38 Japanese adults who underwent bilateral lung transplantation from 2015 to 2022 in a single center.
RESULTS: Twenty-one (55%) patients met the criteria for BLAD. No significant differences were found in recipient or donor factors between the BLAD and non-BLAD groups, but the donor-recipient ratio of the predicted vital capacity was lower in the BLAD group (p = 0.009). The intensive care unit length of stay, ventilator duration, and blood loss during transplant surgery were significantly higher in the BLAD group (p < 0.05). No significant difference was found in survival. The median observation period was significantly shorter in the BLAD than non-BLAD group (744 vs.1192 days, respectively; p = 0.031). The time to reach the normal threshold of pulmonary function after lung transplantation varied among the patients, ranging from 6 months to 4 years.
CONCLUSIONS: The characteristics of these Japanese patients with BLAD were similar to those of other patients in previous reports. The effects of the observation period and donor-recipient age discrepancy on BLAD require further exploration.

Background and objective COVID-19 is a respiratory disease that is highly contagious and is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Symptoms vary from mild to severe, where most of the patients suffer from high fever, severe headaches, dry cough, and exhaustion, while the less common symptoms are diarrhea, loss of taste, sore throat, and loss of smell. Following recovery from COVID-19, some patients displayed a restricted pattern in the function of their lungs. As a result, documenting the effects of COVID-19 after infection is essential since it provides a better understanding of the long-term consequences of COVID-19. Hence, the objective of the present study was to assess pulmonary functions in post-convalescent COVID-19 patients. Methodology A cross-sectional comparative study was conducted among students and staff members of Gulf Medical University for a duration of one year from 2021 to 2022. Through a convenient sampling method, a total of 100 participants were recruited for the present study, in which pulmonary function tests (PFTs) were performed using a spirometer, and O2 levels were measured using a pulse oximeter. Additionally, respiratory rate and pulse rate were monitored. Results The present study highlighted the comparison of PFTs in post-convalescent COVID-19 patients and concluded that smoker and convalescent COVID-19 groups showed non-significant decrease (p>0.05) in forced vital capacity (FVC) prediction, forced expiratory volume in the first second (FEV1) prediction, FEV1/FVC%, forced mid-expiratory flow rate (FEF25-75%) prediction, peak expiratory flow rate (PEFR) prediction, respiratory rate, and pulse rate in comparison to the control group. In comparison to the convalescent COVID-19 group, convalescent COVID-19 smoking patients showed a significant increase in FEV1/FVC% (p=0.04). Additionally, in comparison to the convalescent COVID-19 group, a significant increase in PEFR prediction values was observed with a p-value of 0.045 and in comparison to the smoker group with a p-value of 0.006. Moreover, oxygen saturation (SpO2) levels demonstrated non-significant changes between the groups. Conclusion The study concluded that for FEV1/FVC% and PEFR prediction values among the convalescent COVID-19 smoking patient group, a significant increase was observed in comparison to the convalescent COVID-19 group. This aids healthcare professionals in amending strategies to prevent consequences resulting from post-COVID-19 infection.

Pirfenidone and Nintedanib are specific drugs used against idiopathic pulmonary fibrosis (IPF) that showed efficacy in non-IPF fibrosing interstitial lung diseases (ILD). Both drugs have side effects that affect patients in different ways and have different levels of severity, making treatment even more challenging for patients and clinicians. The present review aims to assess the effectiveness and potential complications of Pirfenidone and Nintedanib treatment regimens across various ILD diseases. A detailed search was performed in relevant articles published between 2018 and 2023 listed in PubMed, UpToDate, Google Scholar, and ResearchGate, supplemented with manual research. The following keywords were searched in the databases in all possible combinations: Nintedanib; Pirfenidone, interstitial lung disease, and idiopathic pulmonary fibrosis. The most widely accepted method for evaluating the progression of ILD is through the decline in forced vital capacity (FVC), as determined by respiratory function tests. Specifically, a decrease in FVC over a 6-12-month period correlates directly with increased mortality rates. Antifibrotic drugs Pirfenidone and Nintedanib have been extensively validated; however, some patients reported several side effects, predominantly gastrointestinal symptoms (such as diarrhea, dyspepsia, and vomiting), as well as photosensitivity and skin rashes, particularly associated with Pirfenidone. In cases where the side effects are extremely severe and are more threatening than the disease itself, the treatment has to be discontinued. However, further research is needed to optimize the use of antifibrotic agents in patients with PF-ILDs, which could slow disease progression and decrease all-cause mortality. Finally, other studies are requested to establish the treatments that can stop ILD progression.

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Diver training improves physical and mental fitness, which can also benefit other sports. This study investigates the effect of eight weeks of static apnea training on maximum apnea time, and on the physiological parameters of runners, swimmers, and sedentary participants, such as forced vital capacity (FVC), minimum heart rate (HR), and oxygen saturation (SpO2). The study followed 19 participants, including five runners, swimmers, sedentary participants, and four competitive divers for reference values. The minimum value of SpO2, HR, maximum duration of apnea, and FVC were measured. Apnea training occurred four times weekly, consisting of six apneas with 60 s breathing pauses. Apnea duration was gradually increased by 30 s. The measurement started with a 30 s apnea and ended with maximal apnea. There was a change in SpO2 decreased by 6.8%, maximum apnea length increased by 15.8%, HR decreased by 9.1%, and FVC increased by 12.4% for the groups (p < 0.05). There were intra-groups changes, but no significant inter-groups difference was observed. Eight weeks of apnea training improved the maximum duration of apnea, FVC values and reduced the minimum values of SpO2 and HR in all groups. No differences were noted between groups after training. This training may benefit cardiorespiratory parameters in the population.

BACKGROUND: Chronic respiratory insufficiency from progressive muscle weakness causes morbidity and mortality in late-onset Pompe disease (LOPD). Previous Pompe Registry (NCT00231400) analyses for ≤ 5 years\' alglucosidase alfa treatment showed a single linear time trend of stable forced vital capacity (FVC) % predicted.
METHODS: To assess longer term Pompe Registry data, piecewise linear mixed model regression analyses estimated FVC% predicted trajectories in invasive-ventilator-free patients with LOPD aged ≥ 5 years. We estimated annual FVC change 0-6 months, > 6 months-5 years, and > 5-13 years from treatment initiation, adjusting for baseline age, sex, and non-invasive ventilation.
RESULTS: Among 485 patients (4612 FVC measurements; 8.3 years median follow-up), median ages at symptom onset, diagnosis, and alglucosidase alfa initiation were 34.3, 41.1, and 44.9 years, respectively. FVC% increased during the first 6 months\' treatment (slope 1.83%/year; 95% confidence interval: 0.66, 3.01; P = 0.0023), then modestly declined -0.54%/year (-0.79, -0.30; P < 0.0001) during > 6 months-5 years, and -1.00%/year (-1.36, -0.63; P < 0.0001) during > 5-13 years. The latter two periods\' slopes were not significantly different from each other (Pdifference = 0.0654) and were less steep than published natural history slopes (-1% to -4.6%/year). Estimated individual slopes were ≥ 0%/year in 96.1%, 30.3%, and 13.2% of patients during the 0-6 month, > 6 month-5 year, and > 5-13 year periods, respectively.
CONCLUSIONS: These real-world data indicate an alglucosidase alfa benefit on FVC trajectory that persists at least 13 years compared with published natural history data. Nevertheless, unmet need remains since most individuals demonstrate lung function decline 5 years after initiating treatment. Whether altered FVC trajectory impacts respiratory failure incidence remains undetermined.
BACKGROUND: This study was registered (NCT00231400) on ClinicalTrials.gov on September 30, 2005, retrospectively registered.

UNASSIGNED: The relationship between obstructive sleep apnea syndrome (OSAS) and diabetic microangiopathy remains controversial.
UNASSIGNED: This study aimed to use bidirectional two-sample Mendelian Randomization (MR) to assess the causal relationship between OSAS and diabetic microangiopathy.
UNASSIGNED: First, we used the Linkage Disequilibrium Score Regression(LDSC) analysis to assess the genetic correlation. Then, the bidirectional two-sample MR study was conducted in two stages: OSAS and lung function-related indicators (forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1)) were investigated as exposures, with diabetic microangiopathy as the outcome in the first stage, and genetic tools were used as proxy variables for OSAS and lung function-related measures in the second step. Genome-wide association study data came from the open GWAS database. We used Inverse-Variance Weighted (IVW), MR-Egger regression, Weighted median, Simple mode, and Weighted mode for effect estimation and pleiotropy testing. We also performed sensitivity analyses to test the robustness of the results. Furthermore, we performed multivariate and mediation MR analyses.
UNASSIGNED: In the LDSC analysis, We found a genetic correlation between OSAS, FVC, FEV 1, and diabetic microangiopathy. In the MR analysis, based on IVW analysis, genetically predicted OSAS was positively correlated with the incidence of diabetic retinopathy (DR), diabetic kidney disease (DKD), and diabetic neuropathy (DN). In the subgroup analysis of DR, there was a significant causal relationship between OSAS and background diabetic retinopathy (BDR) and proliferative diabetic retinopathy (PDR). The reverse MR did not show a correlation between the incidence of diabetic microangiopathy and OSAS. Reduced FVC had a potential causal relationship with increased incidence of DR and PDR. Reduced FEV1 had a potential causal relationship with the increased incidence of BDR, PDR, and DKD. Multivariate MR analysis showed that the association between OSAS and diabetic microangiopathy remained significant after adjusting for confounding factors. However, we did not find the significant mediating factors.
UNASSIGNED: Our results suggest that OSAS may be a cause of the development of diabetic microangiopathy, and OSAS may also be associated with a high risk of diabetic microangiopathy, providing a reference for a better understanding of the prevention of diabetic microangiopathy.