A complex unit for a complex disease: the HCM-Family Unit

Hypertrophic cardiomyopathy (HCM) is a group of heterogeneous disorders that are most commonly passed on in a heritable manner. It is a relatively rare disease around the globe, but due to increased rates of consanguinity within the Kingdom of Saudi Arabia, we speculate a high incidence of undiagnosed cases. The aim of this paper is to elucidate a systematic approach in dealing with HCM patients and since HCM has variable presentation, we have summarized differentials for diagnosis and how different subtypes and genes can have an impact on the clinical picture, management and prognosis. Moreover, we propose a referral multi-disciplinary team HCM-Family Unit in Saudi Arabia and an integrated role in a network between King Faisal Hospital and Inherited and Rare Cardiovascular Disease Unit-Monaldi Hospital, Italy (among the 24 excellence centers of the European Reference Network (ERN) GUARD-Heart). Graphical Abstract

IL1RL1 single nucleotide polymorphisms are associated with asthma in the Iranian population

Asthma is a chronic and multifactorial disease which is known to result from environmental and genetic factors. Interleukin 1 receptor-like 1 (IL1RL1) is a receptor, which promotes inflammatory responses after binding to its ligand IL-33. Several studies have shown that IL1RL1 gene polymorphisms are related to susceptibility or protection to asthma. The objective of this study was to evaluate the association between two IL1RL1 single nucleotide polymorphisms (rs10208293 and rs1041973) and the risk of asthma in the Iranian population. We performed genotyping of the IL1RL1 SNPs in 126 adult asthmatics and 300 healthy controls using TaqMan genotyping assay. Moreover, total serum IgE level, eosinophil count, and skin prick test were accomplished. The results indicated that the AA genotype of rs10208293 was positively associated with asthma susceptibility (p=0.028). We did not find any association between rs1041973 and asthma. Overall, our findings indicate that rs10208293 has a positive association with asthma in the Iranian population.

Respiratory rehabilitation for patients with COVID-19 infection and chronic respiratory failure: a real-life retrospective study by a Lombard network

The Lombardy region has been one of the areas most affected by the COVID-19 pandemic since the first months of 2020, providing real-life experiences in the acute phase. It is unclear how the respiratory rehabilitation network responded to this emergency. The aims of this retrospective study were: i) to analyze clinical, functional, and disability data at admission; ii) describe assessment tools and rehabilitative programs; iii) evaluate improvement after rehabilitation. The study was conducted on data collected from ten pulmonary rehabilitation centers in Lombardy, between the period of March 1st 2020 to March 1st 2021, in patients with respiratory failure recovering from COVID-19 both at admission and discharge. The study included demographics, comorbidities, nutritional status, risk of falls, disability status (Barthel index; Short Physical Performance Battery (SPPB); 6 minutes walking test (6MWT), symptoms (dyspnoea with Barthel Dyspnoea and MRC Dyspnoea Scale), length of stay, discharge destination, need for mechanical ventilation, respiratory function, assessment/outcomes indices, and prescribed rehabilitative programs. 413 patients were analyzed. Length of stay in acute and rehabilitative units was less than 30 days. Fifty % of patients used non-invasive ventilation during their stay. Functional status was mildly compromised for forced volumes and oxygenation, while severely compromised for diffusion capacity. Independency was low while physical performance status very low. At discharge, 318 (77%) patients were sent home, 83 (20.1%) were transferred to an acute unit and 12 (2.9%) passed away. Barthel Index and 6MWT were the most used, while MRC score was the least used outcome parameter. The 5 main rehabilitative activities were walking (90.8 %), transfer from bed to armchair (77.5%), limb mobilization in bed (76%), balance (71.2%), and cycle-ergometer or treadmill (43.1%). A huge difference was found in admission, discharge, and delta change among different rehabilitative centers. When available, all outcomes showed a significant improvement. With the limitation of a retrospective study with a clear amount of missing data, COVID-19 subjects admitted to rehabilitative centers presented a reduced physical performance, symptoms of dyspnoea, and severe disability. The 6MWT and Barthel index were the most used measurement.

Home-based unsupervised pulmonary rehabilitation program improves the respiratory disability in systemic sclerosis patients with dyspnea: an observational prospective study

Dyspnea is a common symptom in Systemic Sclerosis (SSc) that considerably decreases patients’ quality of life (QoL). Pulmonary Rehabilitation (PR) mitigates dyspnea impact on daily activities. The aim of this study is to evaluate the effect on respiratory disability of home-based PR in SSc patients with dyspnea. In this observational prospective monocentric study, we screened all dyspneic SSc consecutive patients attending the Rheumatological day hospital in the University hospital of Parma from January 2019 and June 2019. The aim of our study was to understand if a PR unsupervised home-based program could improve respiratory disability in this specific population. Dyspnea was evaluated with the self-administered questionnaires modified Medical Research Council (mMRC) and Saint George's Respiratory Questionnaire (SGRQ).Patients also filled in Short Form 36 (SF36) and the Modified-Health Assessment Questionnaire for SSc (HAQ-MOD). Health Professionals assessed and trained the patients and collected data before PR and at the end of the program. PR consisted in 5 weekly unsupervised sessions for 8 weeks. Wilcoxon test for paired data evaluated the changes after PR. p<0.05 was considered statistically significant. 46 SSc patients were included (43 female). Only 31 (29 female) performed PR as planned (Adherent Group-AG) while the others gave up within the first week (Non-Adherent Group-NAG). All SGRQ domains (Symptoms: from 30 to 18; p=0.0055; Activity: from 47 to 35, p=0.23; Impact from 29 to 25, p=0.044) and SGRQ total score (from 35 to 29; p=0.022) improved in AG. SGRQ scores did not change in NAG as well as SF36 and HAQ-MOD in both groups. The home-based PR program dramatically decreased the effect, frequency and severity of respiratory symptoms. Conversely, it slightly changed the activities causing breathlessness and dyspnea-related social functioning disturbances. PR appears to be a useful tool in treatment strategies aiming to achieve a QoL improvement in SSc patients.

Role of interluekin-6 and insulin resistance as screening markers for metabolic syndrome in patients of chronic obstructive pulmonary disease. A hospital based cross-sectional study

Chronic obstructive pulmonary disease (COPD) is usually associated with a variety of extra-pulmonary manifestations. Metabolic syndrome (MetS) is one such entity that has been scarcely studied in Indian patients. Availability of a good screening marker may help in timely detection of this co morbidity in COPD patients. We conducted a cross sectional study to evaluate the prevalence of MetS among COPD patients and to evaluate the role of Interleukin-6 and insulin resistance (as measured by HOMA-IR) as screening markers for MetS in COPD. A total of 100 stable COPD patients were evaluated for MetS using US National Cholesterol Education Program Adult Treatment Panel III (2005) guidelines. Interleukin-6 and HOMA-IR (for insulin resistance) were measured and compared between COPD patients with and without MetS. ROC analysis was done to find the best cut-off value and sensitivity and specificity of both the molecules in detecting MetS. In the results, the mean age of the study cohort was 59.9+8.7yrs (males=93). Forty five COPD patients (45%) fulfilled the criteria for MetS. Patients with MetS were comparatively younger (57.9+9.5 v/s 61.6+7.8 years; p=0.037) but had longer duration of preceding COPD (9.9+2.8 v/s 6.0+2.2 years; p<0.001) as compared to those without MetS. Both IL-6 and HOMA index were statistically higher (p<0.05) in COPD–MetS patients as compared to the other group. At cutoff value of 36.3 pg/ml for IL-6 and 1.61 for HOMA index, IL-6 and HOMA-IR had sensitivity 91.1% and 82.2% respectively in detecting MetS among COPD patients. To conclude, metabolic syndrome is a common comorbidity seen in COPD patients. Interleukin-6 has a better sensitivity than HOMA-IR in screening MetS among COPD patients.

Six minute walk test in Italian children with cystic fibrosis aged 6 and 11

Six Minute Walk Test (6MWT) is a field exercise test widely used in clinical practice, both in adults and in pediatric patients. The primary aim of the study is to evaluate the physical performance of the subjects and compare them with the predicted Italian values. The secondary aim is to verify the possible relationship between the 6MWT distance (6MWD) and the clinical variables of the sample. Italian children between 6-11 years affected by CF were recruited from 9 regional centres for CF. Short questionnaire assessments about their health state and physical activity routine was administered. Anthropometric characteristics were measured before the test and, peripheral oxygen saturation (SpO2), heart and respiratory rate were measured before and after a 6-minute walk test. The tests were performed according to the American Thoracic Society (ATS) guidelines. 6MWD was compared with the predicted distance calculated by the reference equation for healthy subjects of the same age.A total of 132 children were recruited (70 male) and completed the assessment. The mean (±SD) for 6MWD was 557.4(±69.9), male = 551.4(±80.0), female = 560.4(±63.3), however the predicted distance mean was 605m. A total of 101(76.5%) subjects practice regular physical activity. A total of 31(23%) had a FEV1 lower than their Lower Limits of Normal (LLN). Functional performance on the 6MWT was poorer among the CF patients than among the predicted distance estimated with Italian values. The correlation with the amount of physical activity and 6MWD has been verified.

A middle-aged lady with near-fatal respiratory failure

Tuberculosis is an uncommon cause of acute hypoxemic respiratory failure. We present a case of a middle-aged women with near-fatal respiratory failure due to underlying tuberculosis with favorable clinical recovery. Early diagnosis and treatment are imperative to prevent morbidity, mortality, and disease transmission.

Prevalence and patterns of coronary artery anomalies in 28,800 adult patients undergoing angiography in a large tertiary care centre in India

Coronary artery anomalies (CAAs) are a diverse group of disorders with varied clinical presentation and pathophysiological mechanisms. A majority of these anomalies are asymptomatic and often an incidental finding on coronary angiogram or autopsy. This retrospective study included 28,800 patients who underwent coronary angiography from 2016 to 2020. The coronary angiograms were reviewed by two independent reviewers and CAAs were documented. CAAs were classified into (a) anomalies of coronary artery connection, (b) anomalies of intrinsic coronary arterial anatomy and (c) anomalies of myocardial/coronary artery interaction as proposed by the European Society of Cardiology. Of the 28,800 coronary angiograms, CAAs were present in 4.12% with anomalies in the left coronary artery (LCA) being most common. Anomalies of coronary artery connection were most common (48.48%) followed by anomalies of myocardial/coronary artery interaction (34.49%) and anomalies of intrinsic coronary artery anatomy (17.03%). Among anomalies of coronary artery connection, absent left main trunk or split LCA with separate origins of left anterior descending coronary artery and left circumflex coronary artery from the left coronary sinus of Valsalva (22.59%) was most common. An intramural course or “myocardial bridge” had an incidence of 1.16% while incidence of coronary artery fistulae (CAF) was 0.115%.

Endobronchial hamartoma in a young COVID-19 symptomatic woman. Radical endoscopic treatment with a disposable bronchoscope. Case Report

Pulmonary hamartomas represent the most frequent family of benign lung tumors that typically involve the lung parenchyma and only rarely grow as endobronchial tumors. The elective treatment of endobronchial hamartoma is the bronchoscopic resection, and in those cases in which tumor extension and localization makes it not possible, surgical treatment must be evaluated. Patients with symptomatic COVID-19, hospitalized, frequently undergo a chest CT scan and in some cases, occasional findings may emerge, requiring diagnostic investigations such as bronchoscopy and interventional pulmonology procedures. Therefore, in such a delicate pathological condition, such as COVID-19, the need to perform bronchoscopy and interventional pulmonology procedures, minimizing the risk of viral transmission and ensuring necessary assistance, represents a great challenge for pulmonologists. In this article authors describe, for the first time in literature, a rare case of endobronchial hamartoma, radically resected using a single use bronchoscope, in a young female patient hospitalized for symptomatic COVID-19.

Association between neutrophil to lymphocyte ratio and mortality among community acquired pneumonia patients: a meta-analysis

The neutrophil to lymphocyte ratio (NLR)is an emerging biomarker used in the prognosis of many conditions. We aimed to conduct a meta-analysis to assess the prognostic accuracy of the NLR in determining mortality in patients with Community acquired pneumonia (CAP). The Pubmed, EBSCO, and Scopus databases were searched to find all relevant articles. 10 articles with 5220 patients were included. The pooled area under the curve (AUC) of NLR admission levels to predict 30-Day mortality of CAP patients was 0.706; 95% CI (0.631 to 0.781), while the pooled AUC of NLR levels taken at 3-5 days was 0.882; 95% CI (0.818 to 0.945). Meta analysis also showed a significant difference in the NLR between the Survivors and 30-Day non-survivors. This difference was greater when NLR levels were taken at 3-5 days; Standardized mean difference (SMD) = 1.646; 95% CI (0.451 to 2.840) compared to NLR levels at admission SMD = 1.139; 95% CI (0.514 to 1.764). These results show that the NLR has potential to be incorporated in the routine assessment and stratification of CAP patients, especially in the early-stage evolution (3-5 days), keeping in mind the availability and cost effectiveness of this test.