Isolated left ventricular non-compaction: Clinical characterisation of a teenage male.

Isolated Left Ventricular Non-compaction (LVNC) is a type of cardiomyopathy that usually has a genetic origin. Its diagnosis is based on finding such as deep intertrabecular recesses or sinusoids and ventricular trabeculations communicating with the left ventricular cavity. LVNC was first clinically recognised almost four decades ago, yet its diagnostic and management challenges persist. In this report, we present the case of an 18-year-old boy, who presented at the National Institute of Cardiovascular Diseases, Karachi, in March 2023, with complaints of dizziness, pedal oedema, and shortness of breath. Echocardiography revealed signs suggestive of LVNC, which were confirmed conclusively on Cardiovascular Magnetic Resonance (CMR) (NC/C ratio>2.4). The patient underwent implantable cardioverter defibrillator (ICD) placement, was discharged after a smooth post-procedure recovery, and is doing well on follow-ups. Hence, ICD and guideline-directed medical therapy as a combination have turned out to have satisfactory outcomes in decreasing morbidity and providing mortality benefits for such patients.

Zinc fever in a painter and varnisher: a case report.

BACKGROUND: Zinc fever is well described in medical literature, particularly in workers after handling zinc-containing materials at high temperatures e.g., in the welding of hot-dip galvanized steel sheets. It is not known whether zinc fever also occurs at low temperatures. CASE PRESENTATION: We present the case of a 33-year-old Caucasian atopic painter and varnisher with work-related dyspnea, sweating, as well as multiple occurrences of fever. He was sent to Institute for Prevention and Occupational medicine of the German Social Accident Insurance, Institute of the Ruhr-Universität Bochum (IPA) for the evaluation of isocyanate asthma, but an inhalative challenge with hexamethylene diisocyanate was negative. Since symptoms were closely related to the use of zinc coatings at room temperature without adequate protective measures, the diagnosis of zinc fever was made. After exposure cessation the worker immediately became symptom-free. The work as painter and varnisher may be associated with various exposures to hazardous substances. Besides solvents, epoxy compounds and isocyanates, which can cause obstructive respiratory diseases; additionally, zinc-containing agents should be considered as health hazards. CONCLUSIONS: This case demonstrates that zinc fever may occur also after application of zinc coatings by spray painting at low temperatures.

Ventricular restoration in adults with huge congenital left ventricular aneurysm: report of two cases.

Congenital ventricular aneurysms (CVA) are rare cardiac anomalies that have been predominantly described in the Black population. They are characterized by an akinetic ventricular protrusion that is commonly located at the basal and apical segments. Although the diagnosis is often incidental and the majority of patients are asymptomatic, life-threatening events such as persistent ventricular arrhythmias, CVA rupture, and heart failure are not uncommon. However, no standardized therapy is currently available and good outcomes have been reported with both conservative and surgical management. We report the cases of two young Black African patients with huge symptomatic CVA lesions who underwent successful surgical repair with a ventricular restoration technique. Both cases were consulted for chest pain and dyspnea. Chest X-ray and transthoracic Doppler echocardiography suggested the diagnosis. Thoracic angioscanner and thoracic magnetic resonance imaging confirmed the diagnosis. Both patients underwent successful surgery. This case report aims to revisit the diagnostic and therapeutic approach to this rare pathology, in our professional environment.

Association between swallowing dynamics, tongue pressure and pulmonary function in patients with idiopathic pulmonary fibrosis.

BACKGROUND: Swallowing is a complex process that requires the coordination of muscles in the mouth, pharynx, larynx, and esophagus. Dysphagia occurs when a person has difficulty swallowing. In the case of subjects with respiratory diseases, the presence of oropharyngeal dysphagia potentially increases lung disease exacerbations, which can lead to a rapid decline in lung function. This study aimed to analyze the swallowing of patients with idiopathic pulmonary fibrosis (IPF). METHODS: Patients with IPF were evaluated using the Eating Assessment Tool (EAT-10), tongue pressure, the Timed Water Swallow Test (TWST), and the Test of Mastication and Swallowing Solids (TOMASS). The findings were related to dyspnea severity assessed by the modified Medical Research Counsil (mMRC) score; the nutritional status screened with Mini Nutritional Assessment (MNA) tool; and pulmonary function tests, specifically spirometry and measurement of the diffusing capacity for carbon monoxide (DLCO), the maximal inspiratory pressure (PImax), and the maximal expiratory pressure (PEmax). RESULTS: The sample consisted of 34 individuals with IPF. Those who exhibited swallowing modifications scored lower on the MNA than those who did not (9.6 ± 0.76 vs. 11.64 ± 0.41 points; mean difference 1.98 ± 0.81 points; p = 0.02). They also showed poorer lung function when considering the predicted force vital capacity (FVC; 81.5% ± 4.61% vs. 61.87% ± 8.48%; mean difference 19.63% ± 9.02%; p = 0.03). The speed of liquid swallowing was altered in 31of 34 of the evaluated subjects (91.1%). The number of liquid swallows correlated significantly with the forced expiratory volume in 1 s (FEV1)/FVC ratio (r = 0.3; p = 0.02). Solid eating and swallowing assessed with the TOMASS score correlated with lung function. The number of chewing cycles correlated negatively with PImax% predicted (r = -0.4; p = 0.0008) and PEmax% predicted (r = -0.3; p = 0.02). FVC% predicted correlated with increased solid swallowing time (r = -0.3; p = 0.02; power = 0.6). Swallowing solids was also impacted by dyspnea. CONCLUSION: Patients with mild-to-moderate IPF can present feeding adaptations, which can be related to the nutritional status, lung function, and the severity of dyspnea.

Dyspnea, the silent threat in Parkinson's: a mixed methods study.

BACKGROUND: Dyspnea is considered a silent threat to people diagnosed with Parkinson's disease and may be a common concern in patients, however, little is known about how it affects quality of life. This study explored the experiences of independently mobile people who are affected by dyspnea in daily life. METHODOLOGY: This was a cross-sectional mixed methods study that included an online questionnaire and semi-structured interviews. The participants were included if they were diagnosed with Parkinson's disease; had a self-reported Hoehn and Yahr Score I, II or III; were mobilizing independently; and were Arabic speakers. Participants were excluded if they had any other musculoskeletal, cardiac, respiratory, or neurological diseases; or were previous or current smokers; or had been previously hospitalized due to respiratory complications. RESULTS: A total of 117 participants completed the Arabic version of the Dyspnea-12 Questionnaire. Dyspnea was reported in all participants and that it had an adverse effect on their quality of life, especially during activities of daily living. Additionally, participants reported a lack of knowledge about pulmonary rehabilitation and were unaware of the availability and potential benefits of participation in programs. CONCLUSION: Dyspnea was reported in people in the early stages (Hoehn and Yahr Stages I, II, and III) of Parkinson's disease, and may benefit from routine assessment of lung function, dyspnea management and participation in pulmonary rehabilitation.

Clinical Significance of Long Non-Coding RNA SNHG5 in the Diagnosis and Prognosis of Chronic Obstructive Pulmonary Disease.

Chronic obstructive pulmonary disease (COPD) is preventable and requires early screening. The study aimed to examine the clinical values of long non-coding RNA (lncRNA) SNHG5 in COPD diagnosis and prognosis. Out of 160 COPD patients, 80 were in the stable stage and 80 were in the acute exacerbation of COPD stage (AECOPD). SNHG5 expression was detected via qRT-PCR. The survival analysis was conducted using Cox regression analysis and K-M curve. SNHG5 levels significantly reduced in both stable COPD and AECOPD groups compared with the control group, with AECOPD group recording the lowest values. SNHG5 levels were negatively correlated with GOLD stage. Serum SNHG5 can differentiate stable COPD patients from healthy individuals (AUC = 0.805), and can screen AECOPD from stable ones (AUC = 0.910). SNHG5 negatively influenced the release of inflammatory cytokines. For AECOPD patients, those with severe cough and wheezing dyspnea symptoms exhibited the lowest values of SNUG5. Among the 80 AECOPD patients, 16 cases died in the one-year follow-up, all of whom had low levels of SNHG5. SNHG5 levels independently influenced survival outcomes, patients with low SNHG5 levels had a poor prognosis. Thus, lncRNA SNHG5, which is downregulated in patients with COPD (especially AECOPD), can potentially protect against AECOPD and serve as a novel prognostic biomarker for AECOPD.

Analysis of events from sudden isolated dysarthria to diagnosis of myasthenic crisis: myasthenia gravis mimicking acute lacunar stroke-a case report.

BACKGROUND: Myasthenic crisis (MC) is a life-threatening complication of myasthenia gravis (MG), necessitating ventilation. Achieving a safe and timely diagnosis of myasthenic crisis with atypical, isolated presentation is a considerable challenge particularly in elderly patients, where myasthenia gravis can present with isolated dysarthria in rare instances, giving a clinical impression of lacunar stroke. CASE PRESENTATION: We present a compelling case of a 73-year-old Caucasian female presenting with abrupt onset of isolated dysarthria. Despite initial treatment for a presumed lacunar stroke, subsequent evaluations led to her diagnosis of a myasthenic crisis. Within 72 h of admission, the patient developed dysphagia and shortness of breath, requiring supplemental oxygen. The case highlights the sequential progression of events from the atypical presentation of isolated dysarthria and its course to the management of a myasthenic crisis. CONCLUSION: Our reported case focuses on the discussion of myasthenia that mimicked a lacunar stroke and was finally diagnosed at a critical time of medical crisis. This case highlights the imperative notion that isolated dysarthria in elderly individuals warrants vigilant monitoring for possible myasthenia gravis, given the low incidence of lacunar stroke presenting with only dysarthria.

Progressive Dyspnea in a Woman With Tracheal Stenosis and Rheumatoid Arthritis.

CASE PRESENTATION: An 82-year-old woman with a remote tracheostomy due to vocal cord paralysis and long-standing erosive, seropositive rheumatoid arthritis (RA) well controlled with methotrexate sought treatment at the ED with 1 month of dyspnea, chest tightness, and cough productive of blood-tinged sputum. She had been treated unsuccessfully as an outpatient with multiple courses of antibiotics. She did not smoke or drink alcohol and had no recent travel outside the country. Given concern for airway compromise, she was admitted to the hospital.

Interstitial Lung Disease in a 14-Year-Old Boy.

CASE PRESENTATION: A 14-year-old Chinese boy presented with a 7-year history of exertional dyspnea and reduced exercise tolerance. His perinatal and family histories were unremarkable. He was short and underweight for his age since childhood but had normal intellectual development. At 3 years of age, he was admitted to the ICU for severe pneumonia and anemia, and he received blood transfusion. He developed exertional dyspnea and reduced exercise tolerance at 7 years of age and became reluctant to run or jump, with poor appetite, abdominal distension, and refusal of protein-rich foods. At 13 years of age, he experienced a coma during school military training, and he was hospitalized for hyperammonemia (blood ammonia levels between 98 and 148 µmol/L; normal range, 18-72 µmol/L). Brain MRI showed no abnormalities. He improved after symptomatic treatment and was discharged, without taking any oral medication afterwards. However, his dyspnea and exercise tolerance worsened gradually. This patient was referred to Children's Hospital affiliated with Zhengzhou University for further investigation and management.

Electrocardiographic abnormalities and NT-proBNP levels at long-term follow-up of patients with dyspnea after pulmonary embolism.

OBJECTIVES: Electrocardiogram (ECG) and measurement of plasma brain natriuretic peptides (BNP) are established markers of right ventricular dysfunction (RVD) in the setting of acute pulmonary embolism (PE) but their value at long-term follow-up is largely unknown. The purpose of this prospective study was to determine the prevalence of ECG abnormalities, describe levels of N-terminal proBNP (NT-proBNP), and establish their association with dyspnea at long-term follow-up after PE. DESIGN: All Swedish patients diagnosed with acute PE in 2005 (n = 5793) were identified through the Swedish National Patient Registry. Surviving patients in 2007 (n = 3510) were invited to participate. Of these, 2105 subjects responded to a questionnaire about dyspnea and comorbidities. Subjects with dyspnea or risk factors for development of chronic thromboembolic pulmonary hypertension were included in the study in a secondary step, which involved collection of blood samples and ECG registration. RESULTS: Altogether 49.3% had a completely normal ECG. The remaining participants had a variety of abnormalities, 7.2% had atrial fibrillation/flutter (AF). ECG with any sign of RVD was found in 7.2% of subjects. Right bundle branch block was the most common RVD sign with a prevalence of 6.4%. An abnormal ECG was associated with dyspnea. AF was associated with dyspnea, whereas ECG signs of RVD were not. 61.2% of subjects had NT-proBNP levels above clinical cut-off (>125 ng/L). The degree of dyspnea did not associate independently with NT-proBNP levels. CONCLUSIONS: We conclude that the value of ECG and NT-proBNP in long term follow-up after PE lies mostly in differential diagnostics.

Diaphragmatic strengthening exercises for patients with post COVID-19 condition after mild-to-moderate acute COVID-19 infection: a randomized controlled study.

OBJECTIVE: To assess the clinical effects of incentive spirometry (IS) and diaphragmatic breathing (DB) in patients with post COVID-19 condition and diaphragmatic dysfunction as compared with the standard care alone. METHODS: The present longitudinal randomized study included 60 patients with post COVID-19 condition and diaphragmatic dysfunction. Patients were equally randomized to receive standard care plus IS (G1), standard care plus DB (G2) or standard care alone (G3) for 8 weeks. The primary outcome is clinical improvement as evaluated by the modified Medical Research Council (mMRC) dyspnoea scale. RESULTS: Comparison between the studied groups revealed significant improvement in G1 and G2 in all parameters at the end of follow-up. However, no significant improvement was found in G3. At the end of follow-up, 15 patients (75.0%) in G1, 11 patients (55.0%) in G2, and 3 patients (15.0%) in G3 showed improvement on the mMRC dyspnoea scale. Multivariate logistic regression analysis identified mild acute COVID-19 infection (p = 0.009), use of IS (p < 0.001), and use of DB (p = 0.023) as significant predictors of improvement on the mMRC dyspnoea scale. CONCLUSIONS: IS or DB training in addition to the standard care in post COVID-19 condition was associated with better clinical improvement as compared with the standard care alone.

Pulmonary metastatic gestational choriocarcinoma following an uncomplicated term pregnancy: a case report.

BACKGROUND: Choriocarcinoma is a highly malignant pregnancy-related trophoblastic neoplasm, characterized by early metastasis to the lungs. Therefore, patients may manifest nongynecological symptoms owing to distant metastases. The incidence of choriocarcinoma after a term pregnancy is really rare (1/160,000 pregnancies). CASE PRESENTATION: We report a case of a 20-year-old Iranian woman, gravida 2 para 1 live 1 abortion 1, who was referred to our gynecology department with sudden onset dyspnea and pain in the left hemithorax the day after her labor. The index pregnancy was without any complications. After the initial workup, the elevation of ß-human chorionic gonadotropin (HCG) levels (> 1,000,000) along with the identification of clinical (vaginal lesions) and radiological evidence of distant metastases (bilateral pulmonary nodes) directed us toward pulmonary metastatic choriocarcinoma diagnosis. After the oncology consult, the etoposide, methotrexate, actinomycin D, cyclophosphamide, and vincristine chemotherapy regimen was started for the patient. She responded well to the treatment and is currently continuing her chemotherapy process. CONCLUSION: The prognosis of choriocarcinoma is very good if the treatment is started on time. We suggest that clinicians should consider gestational trophoblastic neoplasia in their differential diagnosis of the post-natal period complications, especially after a term and nonmolar pregnancy.

Exploring the impact of cognitive dysfunction, fatigue, and shortness of breath on activities of daily life after COVID-19 infection, until 1-year follow-up.

OBJECTIVE: Despite expanding knowledge on COVID-19,  the long-term effects on daily-life activities remain unclear. The prevalence and changes in fatigue, cognitive dysfunction, and activity limitations in the first year after COVID-19 infection in hospitalized and non-hospitalized patients were explored. SUBJECTS: A total of 122 patients were recruited from hospital care and 90 from primary care. METHOD: Baseline data comprised the Montreal Cognitive Assessment and Trail Making Test. Participants were followed up at 3 and 12 months using these tests and a semi-structured interview to identify symptoms and how they affected participation in daily-life activities. Both within- and between-group analyses were performed to explore changes over time and compare groups. RESULT: High levels of fatigue and cognitive dysfunction were found in both groups, which persisted for 12 months. A significant impact on daily-life activities was also observed, with marginal change at the 12-month follow-up. The hospital care group performed worse than the primary care group in the cognitive tests, although the primary care group perceived a higher level of fatigue and cognitive dysfunction. Activity limitations were higher in the primary care group than in the hospital care group. CONCLUSION: These findings highlight the need for long-term follow-up and further investigation of the impact of persistent deficits on rehabilitation.

Factors associated with phenotypes of dyspnea in post-COVID-19 condition: a cross-sectional study.

Post-COVID-19 condition (PCC) is defined as the persistence of symptoms, like fatigue and dyspnea, at least 3 months post-COVID infection. As dyspnea is a common symptom, we attempted to further clinically phenotype those with PCC-associated dyspnea. 1642 adults (average age of 49.6y with 63% female-predominance and BMI of 31.2 kg/m2) with physician confirmed diagnosis of PCC from June 2020-April 2023 in Alberta, Canada were included. Those with dyspnea were more likely to be female (56.5%, p = 0.005) and have higher BMI (31.3 kg/m2 vs. 29.5 kg/m2; p = 0.0008), history of asthma (21.1% vs. 12.3%; p < 0.001), more persistent PCC symptoms (p = 0.0001), more functional limitations, as well as lower quality of life (p < 0.0001). Multivariable-adjusted logistic regression analysis demonstrated dyspnea was independently associated with fatigue (OR = 4.20; CI = 2.71,6.59) and inversely associated with hospitalization for COVID-19 (OR = 0.53; CI = 0.32,0.91), age (OR = 0.98 per one year of age; CI = 0.96,0.99) and 6-min-walk-distance per 10 m difference (OR = 0.98, CI = 0.96,1.0). Fatigue was a predictor of dyspnea, and was associated with milder infection, higher BMI, and reduced 6-min-walk-distance despite normal pulmonary function. Reduced TLC or DLCO was associated with more severe infection and reduced 6-min-walk-distance. Thus, we speculate there are at least two dyspnea-associated phenotypes: phenotype with pronounced fatigue (normal PFT) and phenotype with pronounced pulmonary abnormalities (abnormal PFT). Improved understanding of the dyspnea-associated phenotypes may allow for better targeted rehabilitation.