Restrictive Respiratory Pattern Research Articles

Cardiorespiratory dynamics of type 2 diabetes mellitus: An extensive view of breathing and fitness challenges in a diabetes prevalent population.

Diabetes mellitus (DM) is well known for related micro and macrovascular complications. Uncontrolled hyperglycemia in diabetes mellitus leads to endothelial dysfunction, inflammation, microvascular impairment, myocardial dysfunction, and skeletal muscle changes which affect multiple organ systems. This study was designed to take an extensive view of cardiorespiratory dynamics in patients with type 2 DM. One hundred healthy controls (HC) and 100 DM patients were enrolled. We measured and compared the breathing patterns (spirometry), VO2 max levels (heart rate ratio method) and self-reported fitness level (international fitness scale) of individuals with and without diabetes. Data was analyzed in SPSS v.22 and GraphPad Prism v8.0. We observed restrictive spirometry patterns (FVC <80%) in 22% of DM as compared to 2% in HC (p = 0.021). There was low mean VO2 max in DM as compared to HC(32.03 ± 5.36 vs 41.91 ± 7.98 ml/kg/min; p value <0.001). When evaluating physical fitness on self-reported IFiS scale, 90% of the HC report average, good, or very good fitness levels. In contrast, only 45% of the DM shared this pattern, with a 53% proportion perceiving their fitness as poor or very poor (p = <0.05). Restrictive respiratory pattern, low VO2 max and fitness level were significantly associated with HbA1c and long-standing DM. This study shows decreased pulmonary functions, decreased cardiorespiratory fitness (VO2 max) and IFiS scale variables in diabetic population as compared to healthy controls which are also associated with glycemic levels and long-standing DM. Screening for pulmonary functions can aid optimum management in this population.

Diaphragmatic and Rectus Femoris Muscles Ultrasonography in Relation to Motor and Respiratory Functions in Ambulatory Boys with Duchenne Muscular Dystrophy

AbstractOur aim was to establish correlations between GSGC (Gait, Stairs, Gower, Chair) scores and ultrasonographic (US) findings of rectus femoris muscle (RF) and to study correlation between pulmonary function tests (PFT) and diaphragmatic muscles thickness in ambulatory boys with Duchenne muscular dystrophy (DMD). Twenty-four ambulatory boys with DMD were included. Their motor functions were assessed using GSGC scale. All the participants underwent PFT. US was used to assess RF quantitatively (gray scale analysis) and semiquantitatively (modified Heckmatt score) besides assessment of diaphragmatic muscle thickness. Patients with grade IV modified Heckmatt scale had the worst functional performance compared with grade III and II evidenced by having the highest total GSGC score (p &lt; 0.01), worst gait, stairs climbing, chair rising scores, and the longest time for rising from floor (p &lt; 0.05). A significant positive correlation was detected between forced expiratory volume in 1s/ forced vital capacity and right diaphragmatic muscle thickness. GSGC score positively correlated with RF US findings (quantitative gray scale analysis). GSGC score is a successful tool that could be used for clinical evaluation of patients with DMD. Diaphragmatic US introduces an option for screening and monitoring of restrictive respiratory pattern in patients with DMD after determining the reference values of diaphragmatic muscle thickness in different ages.

Functional outcomes and associated factors of individuals with unilateral traumatic lower limb amputation in Sri Lanka: An observational study.

Rehabilitation is important after an amputation surgery. This study was conducted to find the level of functional outcomes of individuals with unilateral traumatic lower limb amputation and the impact of sociodemographic, amputation, and rehabilitation characteristics on functional outcomes. An observational cross-sectional study was conducted with 48 participants (aged 20-60 years) who visited the Center for Handicapped from across the country. Functional outcomes were measured using the Locomotor Capabilities Index, Amputee Mobility Predictor with Prosthesis, 6-minute walk distance, and spirometry test and sociodemographic, amputation, and rehabilitation characteristics using a self-constructed questionnaire. Amputee Mobility Predictor with Prosthesis K levels showed 65% had the ability to ambulate in the community and could master environmental barriers. Locomotor Capabilities Index scores showed 96% could independently perform basic daily activities with or without using assistive devices and 83% could perform advanced daily activities. None of the individuals had achieved their predicted 6-minute walk distance, but 52% had "good and above" level of maximum oxygen consumption; restrictive respiratory pattern was indicated among 31%. Amputee Mobility Predictor with Prosthesis and Locomotor Capabilities Index scores were significantly ( p < 0.005) affected by mobility hours/day, amputation level, prosthesis usage, and satisfaction. Six-minute walk distance was significantly ( p < 0.005) related to income, time since amputation, duration of rehabilitation, mobility hours/day, sex, job engagement, previous job, amputation level, K levels, and satisfaction with prosthesis. Rehabilitation in Sri Lanka mainly focuses on basic walking training, not on long-term survival, distance walking, and cardiorespiratory endurance, which can lead to future comorbidities. Raising awareness in the society about rehabilitation services and more effective rehabilitation programs are recommended.

Respiratory function and sleep in children with myotonic dystrophy type 1

Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease in children causing sleep and respiratory disorders that are poorly described in the literature compared to adult forms.This retrospective observational study was performed at the Armand Trousseau University Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France. We retrospectively collected data from lung function tests, nocturnal gas exchange recordings, and polysomnography of 24 children with DM1. 39% of the children with DM1 reported respiratory symptoms indicative of sleep disordered breathing. Three patients (12%) presented with a restrictive respiratory pattern, 10 (42%) with a sleep apnoea syndrome, mainly of obstructive origin (2/10 with severe obstructive sleep apnea syndrome), and 11 (45%) with nocturnal alveolar hypoventilation. Non-invasive ventilation (NIV) was indicated in 9 (37.5%) children, although tolerance was poor. No significant deterioration in respiratory function or nocturnal gas exchange was observed during the NIV-free period.This study provides new and useful insights into DM1 disease evolution in children to better adapt for respiratory follow-up and management. This highlights the need for future research to better understand the origin of respiratory and sleep disorders in patients with DM1.

Obesity, immune system dysfunction and implications for Covid-19: a literature review

Obesity is a chronic low-grade inflammatory disease in which hypertrophy is followed by adipocyte apoptosis. These cells, which act as an endocrine organ, initiate increased secretion of pro-inflammatory cytokines and reduced anti-inflammatory cytokines, resulting in compromised immune system and advancement of infection to a systemic level. In addition, fat accumulation negatively affects the cardiovascular and respiratory systems. Thus, in the context of the pandemic COVID -19, the obese individual, who has an immune deficiency and a restrictive respiratory pattern, becomes more prone to a worse prognosis for the disease. Methodology is review was conducted on PubMed-indexed scientific literature database platforms with no time or language limits (update January 2021) Objective: elucidates the impact of obesity on the immune pattern and prognosis of COVID -19. Result: It was described on findings divided into Obesity vs Immune System; Obesity vs COVID -19. Conclusion; thus, knowledge of the impact of obesity on the immune system as well as implementation of therapeutic measures to reduce it are critical in the current coronavirus scenario.

After-effects of thixotropic conditionings on operational chest wall and compartmental volumes of patients with Parkinson's disease.

Individuals with Parkinson’s disease (PD) present respiratory dysfunctions, mainly due to decreased chest wall expansion, which worsens with the course of the disease. These findings contribute to the restrictive respiratory pattern and the reduction in chest wall volume. According to literature, inspiratory muscle thixotropic conditioning maneuvers may improve lung volumes in these patients. The study aimed to determine the after-effects of respiratory muscle thixotropic maneuvers on breathing patterns and chest wall volumes of PD. A crossover study was performed with twelve patients with PD (8 males; mean age 63.9±8.8 years, FVC%pred 89.7±13.9, FEV1%pred 91.2±15, FEV1/FVC%pred 83.7±5.7). Chest wall volumes were assessed using OEP during thixotropic maneuvers. Increases in EIVCW (mean of 126mL, p = 0.01) and EEVCW (mean of 150mL, p = 0.005) were observed after DITLC (deep inspiration from total lung capacity) due to increases in pulmonary (RCp) and abdominal (RCa) ribcage compartments. Changes in ICoTLC (inspiratory contraction from TLC) led to significant EIVCW (mean of 224mL, p = 0.001) and EEVCW (mean of 229mL, p = 0.02) increases that were mainly observed in the RCp. No significant changes were found when performing DERV (deep expiration from residual volume) and ICoRV (Inspiratory contraction from RV). Positive correlations were also observed between the degree of inspiratory contraction during ICoTLC and EEVRCp (rho = 0.613, p = 0.03) and EIVRCp (rho = 0.697, p = 0.01) changes. Thixotropy conditioning of inspiratory muscles at an inflated chest wall volume increases EIVCW and EEVCW in the ten subsequent breaths in PD patients. These maneuvers are easy to perform, free of equipment, low-cost, and may help patients improve chest wall volumes during rehabilitation.

Respiratory Function Correlates with Fat Mass Index and Blood Triglycerides in Institutionalized Older Individuals.

We investigated the relationship between respiratory function measured by spirometry analysis and anthropometric variables (skeletal and fat mass) and nutritional status in the institutionalized elderly, particularly at high-risk for adverse outcomes after respiratory infections and malnutrition. This is a multicenter cross-sectional study with a quantitative approach conducted among older people institutionalized living in nursing homes. Respiratory function was assessed by measuring the forced vital capacity, forced expiratory volume in the first second, the ratio between FEV1 and FVC (FEV1/FVC), and peak expiratory flow in percentage by means of spirometric analysis (values of the forced expiratory volume measured during the first second of the forced breath (FEV1) and forced vital capacity (FVC)). Nutritional assessment and anthropometry analyses were performed to evaluate under or over nutrition/weight. There was a significant (p<0.05) and positive correlation between FEV1 and skeletal muscle mass index, whereas fat mass index correlated significantly (p<0.01) with the FEV1/FVC index. FEV1/FVC values were both significantly (p<0.05) associated with high body mass index and triglyceride levels in the blood. The prevalence of individuals with ventilator restrictive pattern (FEV1/FVC>70% with FEV1 and FVC<80%) was 27.6% and 12 individuals (21.1%) received daily bronchodilators as part of the pharmacological treatment for respiratory disorders. Logistic regression was performed to identify predictors of restrictive respiratory patterns. The following variables were included in the model: age group, female gender, Charlson comorbidity index, body-mass index (BMI), fat mass index, skeletal muscle mass index, total cholesterol, and triglycerides concentration. The model was statistically significant (p < 0.05; R2 = 0.39), correctly classifying 70.0% of cases, with a sensitivity of 89.3% and a specificity of 50.0%. Area under curve was 0.71 (IC95% 0.54-0.88; p=0.023).The highest OR for the restrictive respiratory pattern was for BMI (OR=5.09) and triglycerides concentration in blood (>150 mg/dl) (OR=5.59). The relationship between a restrictive pattern of respiratory function and fat mass deserves future investigation to manage these parameters as a possible modifiable factor of altered respiratory function in overweight institutionalized older individuals.

Results of CPAP Titration and Short-Term Adherence Rates in Patients with Obesity Hypoventilation Syndrome and Mild/Moderate Obstructive Sleep Apnea

PurposeNo study has assessed the titration success of CPAP therapy in patients with obesity hypoventilation syndrome (OHS) and an apnea-hypopnea index (AHI) <30 event/h. This study aimed to assess the titration success of CPAP therapy under polysomnography and subsequent short-term adherence (1 month) in patients with OHS and an AHI <30 event/h.MethodsConsecutive OHS patients with an AHI <30 events/h between 2010 and 2019 were included (n=54). All OHS patients were first started on CPAP during the therapeutic sleep-study. If the therapeutic-study showed that the SpO2 remained < 90% for 20% of the total sleep time, a second therapeutic study was arranged with bi-level PAP (BPAP). Thirty patients agreed to participate in the 1-month follow-up adherence study. We applied the American-Thoracic-Society criteria for PAP adherence.ResultsThe mean age was 54.8±14.6 years, and the mean BMI was 45.9±12.2 kg/m2. Successful titration on CPAP was attained in 36 (66.7%) patients, and 18 (33.3%) required BPAP. Patients who failed the CPAP trial had a significantly higher PaCO2 and bicarbonate, a more restrictive respiratory pattern on spirometry, and a significantly higher time with SpO2<90% (mins) during sleep. The only independent correlate of CPAP-titration success on the multivariable regression analysis was the desaturation index (OR: 1.33 [1.033–1.712]). More than 80% of the participants were using CPAP therapy after one-month with no differences in adherence between the CPAP and BPAP groups.ConclusionsThe current results suggest that CPAP therapy could be an acceptable alternative therapy to BPAP in patients with OHS without severe OSA.

Pulmonary evaluation of post-COVID-19 patients: an Ecuadorian experience

BackgroundDespite the growing concerns related to the potential of long-term pulmonary sequelae due to COVID-19, data about intermediate and long-term changes in the respiratory function of patients who recover is relatively sparse, particularly in developing countries.ObjectivesTo assess the characteristics and pulmonary function at follow-up in a sample of Ecuadorian patients that recovered from the virus.MethodsWe conducted a cross-sectional study that included 43 patients after symptomatic COVID infection, who were evaluated by spirometry, single breath DLCO, and 6MWT. For statistical analysis we performed point biserial correlations, and chi squared tests.ResultsOverall, 30.3% of patients (n = 13) reported persistent symptoms, with fatigue being the most common (23.3%, n = 10). Around 34.9% (n = 15) of the sample had a restrictive spirometry pattern, 18.6% (n = 8) had an abnormally decreased adjusted DLCO. A restrictive spirometry pattern was associated with an abnormally low adjusted DLCO (χ2(2) = 11,979, p = 0.001).ConclusionWe found that a considerable proportion of patients presented with persistent symptoms and alterations in pulmonary function following COVID-19, mainly a restrictive respiratory pattern and abnormally low DLCO. Further studies are needed to determine which patients may benefit from the follow-up with specific pulmonary function tests.

OTHER NMDs: EP.349 GFPT1-related myopathy overlapping with autophagic vacuolar myopathy. A case report

Autophagic vacuolar myopathies are a heterogeneous group of muscle diseases with a common denominator of altered autophagy and defective protein quality control. Pathogenic variants in GFPT1 cause limb-girdle congenital myasthenic syndrome. Muscle biopsies from affected patients usually show characteristic tubular aggregates, fiber disproportion, and in limited reports, autophagic vacuoles. A 27-year-old female born to non-consanguineous parents, presented with a progressive axial and limb-girdle weakness from 22 months of age, without cognitive impairment. She developed a progressive dorsolumbar scoliosis and restrictive respiratory pattern from 4 years of age. CK levels were normal and EMG without RNS revealed a myopathic pattern. The muscle biopsy showed variable fiber size and large numbers of fibres containing single or multiple cytoplasmic vacuoles containing cellular debris. Oxidative activity was increased in those fibers. Muscle MRI revealed generalized atrophy predominantly in axial and limb-girdle muscles. Trio-WES analysis failed to find pathogenic variants in genes related to autophagic vacuolar myopathy, but research-based reanalysis identified a homozygous pathogenic variant in GFPT1 (NM_001244710.1 c.686-2A>G). RNS revealed a mild and inconstant area decrement at trapezius muscle and SFEMG a pathological jitter with blocks at extensor digitorum communis, consistent with the diagnosis of congenital myasthenic syndrome. Treatment with pyridostigmine and 2,4-diaminopyrimidine was initiated with mild improvement. She is now able to walk independently indoors holding her head, without respiratory or oropharyngeal concerns. The initial diagnosis of autophagic vacuolar myopathy based on the presence of autophagic vacuoles delayed the genetic diagnosis and treatment in this case. We propose the inclusion of GFPT1 under the umbrella of autophagic vacuolar myopathies and encourage a deeper study of the GFPT1 function in autophagy.

Right lung agenesis in a one-year-old Chihuahua

A one-year-old neutered male Chihuahua was referred for further investigations of spontaneous pneumothorax. Before referral, thoracocentesis and chest drain placement was performed. On presentation, the dog was dull and dyspnoeic...

Contribution of pulmonary function tests (PFTs) to the diagnosis and follow up of connective tissue diseases

Introduction: Connective Tissue Diseases (CTDs) are systemic autoimmune conditions characterized by frequent lung involvement. This usually takes the form of Interstitial Lung Disease (ILD), but Obstructive Lung Disease (OLD) and Pulmonary Artery Hypertension (PAH) can also occur. Lung involvement is often severe, representing the first cause of death in CTD. The aim of this study is to highlight the role of Pulmonary Function Tests (PFTs) in the diagnosis and follow up of CTD patients. Main body: Rheumatoid Arthritis (RA) showed mainly an ILD with a Usual Interstitial Pneumonia (UIP) pattern in High-Resolution Chest Tomography (HRCT). PFTs are able to highlight a RA-ILD before its clinical onset and to drive follow up of patients with Forced Vital Capacity (FVC) and Carbon Monoxide Diffusing Capacity (DLCO). In the course of Scleroderma Spectrum Disorders (SSDs) and Idiopathic Inflammatory Myopathies (IIMs), DLCO appears to be more sensitive than FVC in highlighting an ILD, but it can be compromised by the presence of PAH. A restrictive respiratory pattern can be present in IIMs and Systemic Lupus Erythematosus due to the inflammatory involvement of respiratory muscles, the presence of fatigue or diaphragm distress. Conclusions: The lung should be carefully studied during CTDs. PFTs can represent an important prognostic tool for diagnosis and follow up of RA-ILD, but, on their own, lack sufficient specificity or sensitivity to describe lung involvement in SSDs and IIMs. Several composite indexes potentially able to describe the evolution of lung damage and response to treatment in SSDs are under investigation. Considering the potential severity of these conditions, an HRCT jointly with PFTs should be performed in all new diagnoses of SSDs and IIMs. Moreover, follow up PFTs should be interpreted in the light of the risk factor for respiratory disease related to each disease.

All-Cause and Cause-Specific Mortality from Restrictive and Obstructive Respiratory Disorders with and Without Dyspnea in Chinese: Guangzhou Biobank Cohort Study

Objective: To study whether spirometry respiratory disorders with and without dyspnea were associated with mortality in older Chinese. Methods: Guangzhou Biobank Cohort Study participants were classified by respiratory patterns and presence of dyspnea into 6 groups: normal spirometry (NS), airflow obstruction (AO) and restrictive respiratory pattern (RRP) with and without dyspnea (dyspnea defined by British modified Medical Research Council scale ≥2). Adjusted hazard ratios (aHRs) were calculated using Cox models. Results: In all 16377 subjects, the increased mortality risk from AO was greater for all-cause (aHR 1.72 (95% confidence interval (CI) 1.49-2.00) vs. 1.46 (95% 1.29-1.65)) but lower for cardiovascular diseases (aHR 1.47 (95% CI 1.12-1.92) vs. 1.77 (95% CI 1.46-2.14)) than from RRP. Only AO was associated with lung cancer mortality (aHR 2.22 (95% CI 1.53-3.24)) (all P values 0.27), all the other aHRs were similar in those with and without dyspnea (aHRs ranged from 1.43 to 3.99, P values <0.05). The aHRs of all-cause mortality for dyspnea (aHR 1.37 (95% CI 1.17-1.60)) and cardiovascular mortality (aHR 1.45 (95% CI 1.13-1.86)) in all subjects varied by spirometry patterns. Conclusion: The increased risk from AO was greater for all-cause mortality but lower for cardiovascular mortality than from RRP. The associations of dyspnea and mortality varied by spirometry patterns. Spirometry and dyspnea questionnaires, which are seldom used in China and elsewhere, should be included in health examinations. Funding Statement: This work was supported by the Guangdong Provincial Medical Science Research Fundation, Guangdong, China (A2018141), and the National Key RD 2012J5100041; 201704030132). The GBCS was funded by the Guangzhou Science and Technology Bureau, Guangzhou (No. 2002Z2-E2051; No.2012J5100041); the University of Hong Kong Foundation for Educational Development and Research, Hong Kong (No. SN/1f/HKUF-DC;C20400.28505200); the Guangzhou Public Health Bureau, Guangzhou (No.201102A211004011), China; and the University of Birmingham, UK. Declaration of Interests: The authors declare no conflict of interests. Ethics Approval Statement: The study was approved by Guangzhou Medical Ethics Committee of the Chinese Medical Association. All participants gave written informed consent before participation.

Fibrose pulmonaire au cours de la poïkilodermie héréditaire sclérosante associée à la mutation du gène FAM111B : à propos d’un cas

Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) is a recently described, extremely rare, entity belonging to the spectrum of inherited poikilodermas. It is provoked by a mutation of the FAM111B gene. Respiratory involvement has never been fully described but usually involves a restrictive respiratory pattern. We present here a case of pulmonary fibrosis associated with POIKTMP and describe the clinical, functional, radiological and evolutionary characteristics. A 38 year-old patient with poikiloderma diagnosed in childhood was referred on account of dyspnoea. Initial evaluation showed a diffuse, fibrosing, interstitial pneumonitis with upper lobe predominance, associated with severe muscular involvement on imaging that remained sub-clinical during the evolution of the disease. Lung function impairment was severe and a rapid worsening of the pulmonary fibrosis and an acute exacerbation led to death after a follow-up of 21 months. This case illustrates the fibrosing pulmonary involvement associated with POIKTMP and confirms its extreme severity. It is found only in adults and is universally fatal after a variable time. It highlights the necessity for a systematic screening as soon as the diagnosis of POIKTMP is confirmed in order to establish specialised respiratory management.

Pneumotórax fechado em tamanduá mirim (Tamandua tetradactyla)

Background: Pneumothorax is characterized by the accumulation of air in the pleural space, either due to trauma or secondary to other conditions. Typically, pneumothorax is correlated with blunt trauma of the pulmonary parenchyma or penetrating trauma of the thoracic cavity, such as on being trampled upon or bitten, respectively. The therapeutic approach of this condition is rarely described in wild animals; therefore, the present study aims to describe the clinical manifestations, diagnostic method, and therapeutic aproach in a specimen of Tamandua tetradactyla with closed pneumothorax received for emergency care after being hit by a vehicle.Case: A southern tamandua (T. tetradactyla) was received in our hospital after being hit by a vehicle. The patient presented with a state of stupor, nystagmus, a restrictive respiratory pattern, and muffling on auscultation of respiratory and cardiac sounds in the left antimer. Simultaneously with the physical examination, venous access was established, pain control was intravenously performed and oxygen therapy was started. After stabilization, the patient underwent abdominal ultrasound (abdominal-focused assessment with sonography for trauma) and thoracic radiographs. The abdominal ultrasound confirmed the presence of a small amount of free fluid in the evaluated recesses, i.e., hepatodiaphragmatic, splenorenal, cystocholic, and hepatorenal, suggesting the need for periodic ultrasonographic monitoring associated with the clinical evaluation of the patient because of suspicion of active hemorrhage. The thoracic radiographic image (ventrodorsal recumbency) revealed increased pulmonary opacity due to lobar retraction, marked by an enlarged gap between the pulmonary lobes and thoracic wall, and the formation of a radiolucent area between both structures. The lateral recumbency evidenced the dorsal displacement of the cardiac apex in relation to the sternum. In addition to the thoracic alterations, a transverse fracture in the middle third of the diaphysis of the left fibula was identified by radiographic examination. After extensive hair clipping and skin antisepsis of the left hemithorax, thoracentesis (an adapted technique from that used in domestic animals) was performed with access via the 8th intercostal space in its most dorsal presentation using a 21-gauge Butterfly needle attached to a three-way medical valve and 20-mL syringe. The procedure allowed 100 mL air to be drained until the negative pressure of the cavity was restored. At the end of the drainage, the patient showed a remarkable improvement in the respiratory pattern, and follow control radiographs showed full pulmonary expansion and no recurrence. The possibility of active abdominal hemorrhage was disregarded because ultrasound monitoring after 6 h revealed no change in the amount of free fluid in the suppressed recess.Discussion: Pneumothorax is an important condition that can be detected in injured domestic and wild animals that are run over. The association between a detailed clinical evaluation and radiographic examination was essential for the diagnosis and initiation of the appropriate therapy, contributing to the prognosis of the patient. The adaptation of the thoracocentesis technique used in domestic animals proved to be suitable for the treatment of this Tamandua tetradactyla.

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders.

Respiratory muscles are classically involved in neuromuscular disorders, leading to a restrictive respiratory pattern. The diaphragm is the main respiratory muscle involved during inspiration. Ultrasound imaging is a noninvasive, radiation-free, accurate and safe technique allowing assessment of diaphragm anatomy and function. The authors review the pathophysiology of diaphragm in neuromuscular disorders, the methodology and indications of diaphragm ultrasound imaging as well as possible pitfalls in the interpretation of results.

P.226 - Late-onset limb-girdle myopathy with oculobulbar signs and rimmed vacuoles associated with a novel Pompe disease mutation

Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by acid alfa-glucosidase (GAA) deficiency. Late-onset phenotype is heterogeneous, and it may include ptosis and/or bulbar weakness. Since 2006 enzyme replacement therapy with alglucosidase alfa has become available with the best benefit depending on residual muscle function. Therefore, its prompt diagnosis has become more noteworthy. We describe a 50-year-old Portuguese woman, which presented with slowly progressive speech slurring and limb-girdle muscle weakness for the previous 25 years. In the last 10 years she also complained of progressive left eyelid drop. No diplopia or dysphagia was present. There was no fatigability or diurnal fluctuation in symptoms. Her medical and familial history was unremarkable. Neurological examination disclosed left ptosis, moderate tongue atrophy and weakness, slight dysarthria and severe limb-girdle muscle weakness. A mildly restrictive respiratory pattern was disclosed on pulmonary function tests. There was no heart involvement. Nerve conduction studies were normal. Needle electromyography disclosed myopathic potentials associated with fibrillation potentials and positive sharp waves. Repetitive nerve stimulation was unremarkable. Serum creatine kinase was mildly elevated (648–881 UI/L). Muscle biopsy showed myopathic changes with some rimmed vacuoles. There was no excessive glycogen accumulation seen with PAS and by electron microscopy (EM). There were no filament inclusions under EM. A reduced GAA enzyme activity (1.58 pmol/h/punction; normal >4.51) was disclosed on dried blood spot analysis. Sequence analysis of the GAA gene revealed a novel pathological mutation in compound heterozygosity [c.-32-13T > G/c.2319C > G(p.Y773*)]. Six months after enzyme replacement therapy, ptosis improved and respiratory function remained stable. This case highlights the need for a high index of suspicion for PD in adult patients with unexplained oculobulbar and limb-girdle muscle weakness, even if the muscle biopsy features are completely atypical.

Tricuspid valve dysplasia in a domestic feline: case report

Tricuspid valve dysplasia (TVD) is a congenital heart defect described in dogs and cats; however, in Brazil there are no reports of this condition in cats. Therefore, our goal was to report a case of TVD in a domestic cat. A four-year-old, female, domestic short hair cat that was seen at the Cardiology Service of the Veterinary Teaching Hospital, University of São Paulo, for apathy, appetite loss and dyspnea for five days. During physical examination, dyspnea with a restrictive respiratory pattern due to pleural effusion was observed. Thoracocentesis was performed and 450 mL of serosanguineous fluid was drained. Two-dimensional echocardiography in the right parasternal short-axis plane at the level of the papillary muscles showed right ventricular dilatation and paradoxical septal motion. On the left parasternal apical four-chamber view, significant dilatation of the right chambers, loss of mobility of the septal leaflet of the tricuspid valve and a thickened mural leaflet chordae with anomalous insertion were observed. Based on clinical and echocardiographic aspects, a diagnosis of TVD was given. Treatment was initiated with enalapril 0.5 mg/kg, furosemide 0.5 mg/kg and pimobendan 0.3 mg/kg every 12 hours, all per os. The patient experienced remission of clinical manifestations and survived for 50 days after diagnosis.

Obesity and lung function: a systematic review.

ABSTRACTObesity is a chronic disease characterized by the excessive accumulation of body fat that is harmful to the individuals. Respiratory disorders are among the comorbidities associated with obesity. This study had the objective of investigating the alterations in respiratory function that affect obese individuals. A systematic review was performed, by selecting publications in the science databases MEDLINE and LILACS, using PubMed and SciELO. The articles that assessed pulmonary function by plethysmography and/or spirometry in obese individuals aged under 18 years were included. The results demonstrated that the obese individuals presented with a reduction in lung volume and capacity as compared to healthy individuals. Reduction of total lung capacity and reduction of forced vital capacity, accompanied by reduction of the forced expiratory volume after one second were the most representative findings in the samples. The articles analyzed proved the presence of a restrictive respiratory pattern associated with obesity.

Extrinsic Bronchial Obstruction Caused by Scoliosis

A case report. To emphasize the importance of monitoring the breathing capacity in patients with moderate to severe scoliosis, even in adulthood. Diseases that disturb the structure of the chest wall affect the function of the respiratory pump. Restrictive respiratory pattern is caused by severe scoliosis. However, scoliosis may provoke obstructive changes due to compression of the airways. It can be a direct compression because of imprinting of vertebral bodies, or an indirect one, due to rotation forces. METHODS.: We have collected data from the patients' clinical history and have reviewed similar published cases. a white female, with frequent respiratory tract infections during her childhood. She was diagnosed as having 55° right T5-T11 scoliosis. At age of 26, an increase of her pulmonary symptoms appeared with difficulty to expel mucus and medium efforts dyspnea. A computed axial tomographic scan showed T8 vertebral body pushing against the right intermediate bronchus. A bronchoscopy found a decrease in the bronchial area, with near contact between the walls. Lung function test: 41% forced vital capacity (FVC), 43% forced expiratory volume in 1 second (FEV1), and 91 FEV1/FVC1. The patient underwent surgical correction using rods and pedicle screws; she had improvement of symptoms, image tests, and pulmonary function (70% FVC, 71% FEV1, and 101 FEV1/FVC). Increased frequency and severity of respiratory tract infections, difficulty in expelling mucus and dyspnea are warning signs of compromised airways. Spirometry tests and image tests such as computed axial tomography and bronchoscopy are essential for diagnosis. Surgical approach may be the treatment of choice.