Summary

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<sec><h3>Introduction</h3>
<p>Interstitial lung disease (ILD) includes more than 200 progressive conditions classified based on common clinical, imaging or pathophysiological factors.</p>
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<sec><h3>Case presentation</h3>
<p>A 37-year-old male, former smoker, with unknown exposure and a family history of incompletely identified ILD, underwent functional and imaging investigations that raise the suspicion of an ILD with a pattern of non-specific interstitial pneumonia (NSIP). High-resolution computer tomography (HRCT) imaging detects the progression of lesions. The severely altered functional status does not allow a lung biopsy to be performed to elucidate the aetiology and establish the optimal therapeutic approach. Bronchoscopy with bronchial aspirate sampling and bronchoalveolar lavage does not suggest a specific ILD aetiology. A diagnosis of diffuse fibrosing and progressive ILD – an unclassifiable phenotype – was established, and after a multidisciplinary discussion, antifibrotic treatment was initiated. A genetic test was performed for a possible familial ILD with a genetic component. The test identified the presence of an autosomal recessive combined immunodeficiency due to NF-κB inducing kinase (NIK) deficiency associated with the MAP3K14 gene leading to the suspicion of a familial ILD.</p>
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<sec><h3>Discussion</h3>
<p>Genetic testing is essential for diagnosis of ILD, especially in young patients with a family history. Antifibrotics are the only available option for such cases; if immunosuppressive therapy should be initiated still remains a question. Is a lung transplant a realistic solution in such cases?</p>
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<sec><h3>Conclusions</h3>
<p>Familial aggregation and genetic changes should be sought for in diffuse ILD diagnosis.</p>
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</abstract>

‘Victor Babes’ University of Medicine and Pharmacy

Victor Babes University of Medicine and Pharmacy, Center for Research and Innovation in Precision Medicine of Respiratory Diseases (CRIPMRD)

Interstitial lung disease with genetic susceptibility: case report

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<p>Sarcoidosis is a chronic systemic granulomatous disease that can show overlapping clinical features with various rheumatological entities. Even though it can be more commonly associated with Sjögren syndrome and systemic lupus erythematosus, only on rare occasions, it can concomitantly occur with rheumatoid arthritis. While lacking a gold standard diagnostic tool, sarcoidosis remains an exclusion diagnosis. Moreover, an atypical presentation of a rare disease on the background of another systemic disease can be challenging, even for an experienced physician. We present a rare case of a patient with a long-standing history of rheumatoid arthritis treated with methotrexate who developed sarcoidosis with an unusual presentation and possible cardiac involvement.</p>
</abstract>

The State University of Medicine and Pharmacy “Nicolae Testemitanu”

Diagnostic challenges of a rare disease with an unusual presentation

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<p>We describe a series of five cases of sporadic lymphangioleiomyomatosis (LAM) diagnosed in a 2-year period and followed for at least 6 months. All cases describe women aged between 37 years and 67 years (median at 44), mostly non-smokers, either with symptomatic presentations, complications at debut or incidental imagistic diagnosis. The cystic lesions were unanimous, but two cases had atypical patterns. Spirometric parameters were normal in two cases, the rest presenting obstruction with hyperinflation ± bronchodilator positive response. The diffusing capacity of lung for carbon monoxide (DLCO) varied between 79.8% and 29.5%. Two cases had histopathological confirmation, one of which was really unexpected considering its imagistic pattern. The therapeutic intervention consisted of sirolimus and/or bronchodilator. The evolution was stationary for four cases and unfavourable for one. This case series ranges from textbook to atypical LAM and has the aim to raise awareness regarding this rare disease.</p>
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“Carol Davila” University of Medicine and Pharmacy

Lymphangioleiomyomatosis – case series

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<p>Air pollution is increasing every year, especially due to the continuous process of industrialization and modernization. In this observational study, we included 38 COPD patients with frequent exacerbating phenotypes and we wanted to see if the values of microparticles with a size of 1.0, 2.5 and 10 μm, recorded in their homes, are above the values recommended by the World Health Organization (WHO). An air quality monitoring source was installed in each patient’s home for at least 24 hr and microparticles with a size of 1.0, 2.5 and 10 μm, temperature, pressure and humidity were measured. MEAN PM2.5 values were higher than the values recommended by the WHO, 25.33 µg/m<sup>3</sup> vs. 15 µg/m<sup>3</sup>. Our analysis showed that the levels of microparticles in the homes of patients with COPD, and frequently exacerbating phenotype, are above the limits recommended by the WHO.</p>
</abstract>

Department of Pulmonology, Center for Research and Innovation in Precision Medicine of Respiratory Diseases

“Victor Babes” University of Medicine and Pharmacy Timisoara

From pollution to exacerbation in chronic obstructive pulmonary disease

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<sec><h3>Introduction</h3>
<p>Tuberculosis (TB) can be located in any segment of the osteoarticular system, being the most common in the spine, with approximately 50% of cases. In only 10% of the cases of osteoarticular TB the location is multiple; generally, it is monoarticular or located at the level of a single segment of the spine. The diagnosis can be delayed in the early stages due to its varied and hidden presentation and the probability of being confused with other pathologies of the osteoarticular system. Delay in diagnosis can lead to chronic pain, joint destruction and progression to symptomatic bony ankylosis.</p>
</sec>
<sec><h3>Case Presentation</h3>
<p>A 64-year-old man presented with left lower limb, coccyx pain and peri-anal discharge. CT scan of the pelvis showed recto-integumentary perianal fistulous trajectory externalised on the left side of the anus and osteomyelitis. Left ankle CT: Cystic image of approximately 4.2/6/10 cm well-demarcated, with some central microcalcifications, located in the postero-tibial soft parts, communicating with the tibiotalar joint.</p>
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<sec><h3>Conclusion</h3>
<p>This case highlights the importance of considering TB as a diagnosis if unusual sites are involved.</p>
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</abstract>

Coexistence of multiple forms of tuberculosis – a delayed diagnosis

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<p>Duchenne muscular dystrophy (DMD) is a genetic neuromuscular disorder with X-linked inheritance, characterised by progressive motor deficit, causing loss of the ability to walk and multisystemic complications. Currently, there is no known aetiologic treatment for DMD which seeks to remove or correct its cause. Progressive respiratory muscle damage associates thoracic deformities, and ineffective cough, which leads to significant complications such as hypoventilation, nocturnal desaturation and chronic respiratory failure. Respiratory impairment represents the major cause of mortality in patients with muscular dystrophy. This highlights the importance of early and correct management of this illness. We present the case of a 17-year-old patient, genetically diagnosed with DMD at the age of 5 years that became non-ambulant at the age of 12. He had complications such as iatrogenic Cushing syndrome, anxiety, depressive disorder, mild cardiac dysfunction, severe restrictive respiratory dysfunction, nocturnal hypercapnia and sleep apnoea syndrome treated with BiLevel Positive Airway Pressure Spontaneous/Timed Therapy (BiPAP-ST). In evolution, it was decided to perform a tracheostomy and quasi-permanent ventilation. The clinical and paraclinical presentation of this patient is typical of that of an advanced stage of DMD, with progressive aggravation in the past years, despite the correct multidisciplinary management, following the international care standard of this disease. The particularity of the case is based on the complexity of all the comorbidities associated with the disease and the impact they have on the mental health of the patient, leading to the degradation of his general state. Having limited respiratory function, the patient died secondary to a tracheostomy tube complication. These complications represent a major cause of mortality in patients with neuromuscular disorders. An early and correct management of the respiratory tract pathology of these patients is essential for improving their quality of life and increasing their life span.</p>
</abstract>

Clinical Neurosciences Department, Peadiatric Neurology, Faculty of Medicine

Carol Davila University of Medicine and Pharmacy

Respiratory pathology in a patient with muscular dystrophy

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<p>Patients with lung cancer have an increased vulnerability to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus infection, and the association of the two diseases increases the severity of the infection. We present the case of a patient aged 72 years, a former 30 pack year (PA) smoker with 12 years withdrawal, and unvaccinated anti-SARS-CoV-2, with GOLD 2 COPD, hypertensive, recently diagnosed with left bronchopulmonary neoplasm and under immunotherapy. The patient had a fast-evolving SARS-COVID infection to a critical form, complicated with acute pulmonary embolism, nosocomial fungal infection, myelodysplastic syndrome, moderate multifactorial anaemic syndrome and heart disease. The unfavourable evolution of the patient’s condition led to the temporary suspension of oncological treatment throughout the critical period, but without the progression of neoplastic disease. Although bronchopulmonary neoplasm emphasises the severity of SARS-CoV-2 infection, it is not mandatory to develop a harmful oncologic outcome without proper treatment, especially immunotherapy.</p>
</abstract>

Universitatea de Medicină și Farmacie “Carol Davila”

Impact of SARS-CoV-2 on lung cancer patient under immunotherapy

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<p>The impact of COVID-19 on lung function is an indisputable reality that has posed major management problems to all categories of specialists who have treated patients with SARS-CoV-2 infection. This disease presents an impressive multisystemic feature, in correlation with clinical, paraclinical, imaging and functional heterogeneity. Although most COVID-19 cases have a complete resolution, the evolution of vulnerable patients (elderly or people with multiple comorbidities such as cardiovascular, metabolic, renal, neoplastic or respiratory problems) or those with moderate to severe forms of the disease can be slower or even unfavourable. Recent data in the literature have shown that many of these patients return to hospital due to symptoms and respiratory dysfunction more than 6–12 months after the acute viral episode, highlighting the need for rigorous evaluation and further pulmonary function testing among patients with a history of COVID-19 to anticipate the appearance of long-term respiratory functional sequelae.</p>
</abstract>

Department of Internal Medicine – Pneumology

“Grigore T. Popa” University of Medicine and Pharmacy

Lung function assessment following SARS-CoV-2 infection: past, present and future?

AHEAD OF PRINT

Volume 71 (2022): Issue 4 (December 2022)

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Volume 71 (2022): Issue 2 (September 2022)

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Volume 70 (2021): Issue 4 (December 2021)

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Volume 70 (2021): Issue 1 (June 2021)

Volume 69 (2020): Issue 4 (December 2020)

Volume 69 (2020): Issue 3 (December 2020)

Volume 69 (2020): Issue 2 (December 2020)

Volume 69 (2020): Issue 1 (June 2020)

Volume 68 (2019): Issue 4 (December 2019)

Volume 68 (2019): Issue 3 (December 2019)

Volume 68 (2019): Issue 2 (October 2019)

Volume 68 (2019): Issue 1 (June 2019)

Pneumologia

 Pneumologia is the journal of the Romanian Society of Pneumology, being continuously edited since 1951. Pneumologia is an open-access journal, edited in English, 4 issues per year and is included in international databases. It publishes clinical and experimental research articles in the field of respiratory medicine, paediatrics, thoracic surgery, allergology, respiratory intensive care and oncology.  Pneumologia aims to publish scientifically valid papers, related to the respiratory field, offering a good visibility of the published papers. It is also an educational platform for physicians, educators interested in this domain, and aims to promote research and good clinical practice.  Pneumologia publishes original articles in the field of respiratory medicine, paediatrics, thoracic surgery, allergology, respiratory intensive care, and oncology. The following types of submissions are accepted:   Original research papers  Case reports  Reviews  Letters to the editor  Educational materials: practice guidelines, new techniques description and use  News, chronicles   All submitted papers are confidentially peer-reviewed in a timely manner, by at least two independent reviewers selected according to the topic of the article. The peer-review process aims to check the originality, scientific validity, and coherence of the submission.  Pneumologia offers fast publication; the eligible submissions are typically published within 3 months. There is no publication fee, and the online version is available open access on the Journal’s web site. The printed journal is distributed to the members of the Romanian Society of Pneumology and several public libraries.  Romanian and international authors are welcome to submit papers to Pneumologia, which is one of the few journals specifically dedicated to respiratory medicine in the region.  Archiving  Sciendo archives the contents of this journal in Portico - digital long-term preservation service of scholarly books, journals and collections.  Plagiarism Policy  The editorial board is participating in a growing community of Similarity Check System's users in order to ensure that the content published is original and trustworthy. Similarity Check is a medium that allows for comprehensive manuscripts screening, aimed to eliminate plagiarism and provide a high standard and quality peer-review process.  Back issues www.pneumologia.eu/en/all-articles arhiva.pneumologia.eu/ 