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BackgroundBirt-Hogg-Dubé syndrome (BHDS) is a rare monogenic condition mostly associated with germline mutations at FLCN. It is characterized by either one or more manifestations of primary spontaneous pneumothorax (PSP), skin fibrofolliculomas and renal carcinoma. Here, we comprehensively studied germline mutations in BHDS patients and asymptomatic members from 15 Indian families.MethodsTargeted amplicon NGS and Sanger sequencing was performed to detect germline mutations at FLCN in 31 clinically diagnosed patients and 74 asymptomatic family members. Functional effects and protein-protein interaction of FLCN variants were evaluated in-silico and molecular docking method. Family-based association study between pathogenic mutations and BHDS was also performed. Germline mutations at genes associated with phenotypically similar diseases were also addressed in few families.ResultsSix different types of pathogenic FLCN mutations were observed in the patients. Two of them: 11-nucleotide deletion (c.1150_1160delGTCCAGTCAGC) and splice acceptor mutation (c.1301-1G>A), were novel mutations. Two unreported Clinvar pathogenic mutations: stop-gain (c.634C>T) and 4-nucleotide duplication (c.1329_1332dupAGCC), and known mutations: hotspot mutation (c.1285delC) and splice donor mutations (c.1300+1G>A) were also detected. All these mutations greatly affected the protein stability and FLCN-FNIP2 protein interaction. Family-based association studies suggested pathogenic FLCN mutations are significantly associated with BHDS. Two pathogenic SNPs, rs1801133 and rs138189536, at MTHFR, associated with Homocystinuria, were found in one family.ConclusionPathogenic mutations at FLCN may play key roles in deregulating metabolic pathways leading to disease pathogenesis. Instead of FLCN mutations, MTHFR pathogenic SNPs were also detected in clinically diagnosed BHDS patients, therefore, genetic evaluation is necessary to avoid confounding diagnosis.

Post COVID-19 sequelae includes breathlessness, weakness, fatigue, decreased exercise tolerance and impaired quality of life. Physiotherapy based rehabilitation program is an essential component for post COVID-19 patients in facilitating maximum functional recovery. Expert consensus statements are available from the developed countries. There is a need for a guidelines to manage post COVID-19 sequelae in Indian context. The objective of this consensus statement is to provide evidence informed guidelines for post COVID-19 physiotherapy management as a component of pulmonary rehabilitation. This consensus statement was developed by expert panel across India. Published literatures were appraised and used to prepare the recommendations. This is the first of its kind of work providing preliminary guidelines for post COVID-19 physiotherapy.

Background: Burden of Asthma-COPD Overlap Syndrome (ACO) is evolving especially with smoke- or nonsmoking risk factors in developing countries. The proportion of ACO varies from 12.1 to 55.2% according to diagnostic criteria applied. Once daily Glycopyrronium, offers persistent bronchodilation for complimentary action in Severe COPD or ACO. Aim: To assess COPD & ACO management with Glycopyrronium (50 mcg) addition. Methods: A prospective, observational, drug utilization study was planned on 160 cases of COPD & ACO defined by GOLD and ATS criteria at four centres during Jan’ to Dec ‘18 with IRB approval. Sample size calculation with Interim analyses was planned for Intergroup differences in FEV1 with Glycopyrrolate addition. Results: Interim analyses for COPD (n=64) and ACO (n=64) on Glycopyrronium 50 mcg OD & Formoterol/Budesonide DPI inhalation with follow-up at 12 wks were analyzed. Baseline demographics, Male/Female (119/09); Age 59.92 y; Wt 59.12 kg; FEV1 49.8%; Reversibility 15.03%, Exacerbation (≥2/y; 64%; Conclusion: Glycopyrronium 50 mcg offers Therapeutic synergy for incremental bronchodilation that is meaningfully clinically significant (MCID) in Severe COPD or ACO

Interstitial Lung diseases (ILD) are group of disorders wherein due to varied etiologies, interstitium goes into progressive inflammation or fibrosis. Although, the awareness has improved but the therapy is still facing challenges. Pulmonary Rehabilitation (PR) is a worthy modality, which not only supports but also imparts evident benefits in these patients.The study is a retrospective observational study conducted over a period of 2 years at Pulmonary Rehabilitation center, a private clinic setup on patients with different restrictive lung diseases like interstitial lung diseases, neuromuscular disorders and post-surgical patients. A total of 100 patients were enrolled, out of which 21 patients were lost to follow up. The study population included 34% males and 66 % females with a mean age of 56.3 ± 14.2 years. 24 patients required oxygen support (where SpO290% at baseline). Outcome measures were assessed in these patients at the time of enrollment into the program (0 week) and at the end of the program (8 weeks). Effect of PR programme was then analyzed with appropriate statistical methods.Overall, statistically significant benefits were noted in 6 Minute walk distance (6MWD), muscle strength, dyspnea and Quality of life with 8 weeks. The mean 6 MWTD was 297.9 meters pre PR, which improved to 359.7 meters at the completion of 8 weeks post PR. Mean difference was 61.8 meters, which was found to be statistically significant (p value0.001) Improvement in muscle strength of different upper and lower limb muscle groups were noted. Also, significant improvement in comprehensive score of Chronic Respiratory Diseases Questionnaire (CRDQ) scores was documented. Statistically significant improvement was found in the dyspnea, fatigue and emotional components. However, mastery components did not show statistically significant change.PR has proven to be a very useful modality in the management of restrictive lung diseases, especially with the known limitations of pharmacological options to treat this disabling chronic lung diseases, even with those with evident type I respiratory failure at the beginning.

Isolated cardiac sarcoidosis (ICS) accounts for 5%–10% of patients with sarcoidosis. It can involve atrioventricular node causing heart block, as well as the basal septum, papillary muscles, focal regions in the free wall, and the myocardium being more commonly involved. The diagnosis is achieved on magnetic resonance imaging (MRI) and endomyocardial biopsy. Recently, Fluorine-18 fluorodeoxyglucose positron emission tomography and computed tomography (F-18 FDG PET) has been incorporated in the diagnosis as well as management algorithm. We describe an interesting case of ICS detected on F-18 FDG PET and MRI and discuss its role in the management of this rare presentation.

With improved imaging and early symptomatic diagnosis, a large number of patients are being diagnosed with interstitial lung diseases (ILD) in India. As ILD is a disease with limited response to conventional pharmacological treatment, pulmonary rehabilitation (PR) as a nonpharmacological approach is found to be promising in these patients. Despite the proven benefits of PR in patients with COPD, PR holds a weak recommendation for patients with ILD, with very few centers offering it to ILD patients in India. The study was aimed to assess the beneficial effects of an 8 week PR program in ILD patients at a private PR centre. A retrospective observational study analyzed over 2 years consisted of 100 patients (34% males and 66% females), 21 were lost to follow up. 24 patients required oxygen support (SpO2 We found significant improvement in 6MWTD, upper and lower limb muscle strength and CRDQ. Mean 6MWTD improved by 61.8 meters [p The 8 week PR program improved quality of life, muscle strength, functional capacity and proved beneficial in ILD patients.

Background: Cough is one of the most common symptoms for which medical treatment is sought in the outpatient setting. An increased awareness of treatment patterns for the management of cough among pharmacists and patients is essential for its effective management and improving patients' quality of life. Considering the paucity of data from India, present survey was conducted to assess the knowledge, attitude, and behaviour (KAB) regarding cough management among patients and pharmacists in Indian setting.Methods: Patients and pharmacists (≥18 years) were provided with a questionnaire-based survey with domains namely knowledge (patients: 11; pharmacists: 10 questions), attitude (patients: 7; pharmacists: 9 questions), and behaviour and experience (patients: 15; pharmacists: 13 questions).Results: 1000 patients (men: 75%; mean age: 33.85±10.77 years) and 50 pharmacists (men: 100%; mean age: 38.36±10.64 years) completed the survey. The mean knowledge domain scores were moderate for patients (5.66±2.94) and low for pharmacists (3.34 ±2.95). About 31% patients and 72% pharmacists had low knowledge level. The mean attitude domain scores were also low among both the groups (patients: 4.81±3.34; pharmacists: 5.10±4.16). Majority of patients (96%) purchased cough medicines multiple times in a year; ~60% purchased without consulting a physician. Most patients purchased medicines without a prescription (94%) or using an old prescription (88%); but only 12% patients received advice on dosing from the pharmacist. OTC medicines were dispensed to paediatric (up to 30%) and elderly patients (up to 16%) as well.Conclusions:Knowledge and attitude regarding cough and its management is not adequate among patients and pharmacists, which in turn had a negative impact on their behaviour. This study emphasizes the need for awareness programs and healthcare policies for the effective management of cough.

We report a case of 58 year old female diagnosed with Pulmonary Alveolar Proteinosis (PAP) with recurrence of PAP after 5 repeated whole lung lavage, responding to subcutaneous injections of Granulocyte Macrophage Colony Stimulating Factor therapy (GM-CSF). Thus indicating that GM-CSF therapy is a promising alternative in those requiring repeated whole lung lavage