CT score and correlation with lung function and microbiology of adult patients with cystic fibrosis with predominant I1234V genotype in Qatar.

Background: Computed tomography (CT) features of cystic fibrosis (CF) lung disease can be objectively quantified using current CT scoring systems to assess the extent and severity of the disease. The aims of this study were to calculate the Santamaria CT scores in adult patients with CF with the predominant CFTR I1234V genotype, determine its reliability, and correlate these parameters with lung function, microbial colonization, compliance to treatment, and exacerbations. Methodology: This retrospective observational study was conducted on adult patients with CF who were regularly followed up in the adult CF service at Qatar via CT scans that were taken not during an acute exacerbation. CT scans were scored using the Santamaria scoring system. Corresponding spirometry, microbiological data of sputum culture, and relevant clinical data were correlated with individual CT scores. Results: Only 23 of the 31 patients underwent CT when not in an acute exacerbation and were included in the study analysis. A total of 20 (87%) patients had the I1234V genotype. There was good agreement between the two radiologists on the Santamaria CT scores with an intraclass correlation coefficient (ICC) value of 0.991. Bronchiectasis was the most consistent finding, followed by interlobular and intralobular septal thickening. Patients with poor lung function and frequent exacerbations had significantly higher CT scores (p = 0.015). The CT scores of patients colonized with Pseudomonas aeruginosa were higher but nonsignificant (p = 0.20). The mean CT scores were significantly higher in patients who were noncompliant to regular treatment than in those who were compliant (p = 0.012). Conclusion: Santamaria CT scores comprise a reliable scoring system for adult patients with CF and can be used to determine the extent and severity of lung disease. P. aeruginosa colonization causes more structural lung damage than other common colonizing organisms. Noncompliance to treatment has a significant impact on the increasing severity of CF lung disease.

COVID-19-associated hypertriglyceridemia and impact of treatment.

Background: Coronavirus disease 2019 (COVID-19) associated hypertriglyceridemia was observed among patients admitted to intensive care units (ICU) in Qatar. This study aimed to describe COVID-19-associated-hypertriglyceridemia in ICU patients and the impact of treating hypertriglyceridemia on clinical outcomes. Methods: A retrospective observational cohort study of adult patients who were admitted to the ICU with a confirmed diagnosis of COVID-19 pneumonia according to the World Health Organization criteria. Hypertriglyceridemia was defined as triglyceride level of 1.7 mmol/L (≥150 mg/dL) and severe hypertriglyceridemia as fasting TG of ≥5.6 mmol/L (≥500 mg/dL). Results: Of 1,234 enrolled patients, 1,016 (82.3%) had hypertriglyceridemia. Median age was 50 years and 87.9% were males. Patients with hypertriglyceridemia showed significantly longer time to COVID-19 recovery, ICU and hospital stay, and time to death (29.3 vs. 16.9 days) without a difference in mortality between groups. Of patients with hypertriglyceridemia, 343 (33.8%) received treatment (i.e., fibrate and/or omega-3). Patients in treatment group showed longer time to COVID-19 recovery and hospital stay with no difference in death rates in comparison with those in no-treatment group. Relatively older patients were less likely to experience hypertriglyceridemia (odd ratio (OR) 0.976; 95% CI: 0.956, 0.995) or to receive treatment (OR 0.977; 95% CI: 0.960, 0.994). Whereas patients who received tocilizumab were more likely to experience high TG level (OR 3.508; 95% CI: 2.046, 6.015) and to receive treatment for it (OR 2.528; 95% CI: 1.628, 3.926). Conclusion: Hypertriglyceridemia associated with COVID-19 did not increase death rate, but prolonged time to death and length of stay. Treating hypertriglyceridemia did not translate into improvement in clinical outcomes including mortality.

Extensive Deep Vein Thrombosis With Intraabdominal Extension Triggered by Oral Contraceptive Use in a Young Patient With Interrupted Inferior Vena Cava With Azygos Continuation: A Case Report.

Congenital malformations of the inferior vena cava (IVC) are rare and often asymptomatic, typically discovered incidentally during imaging. However, these anomalies can result in circulatory stasis, impede venous return, and serve as predisposing factors for thrombus formation. Here, we present a unique case of a 28-year-old female patient who was found to have interrupted IVC with azygos continuation, an exceedingly rare IVC anomaly, during a work-up of extensive bilateral deep vein thrombosis (DVT) with an intraabdominal extension which was triggered by recent combined oral contraceptive pills (OCP) use. This case highlights the importance of considering vena cava malformations as an underlying cause for extensive DVT, even in the absence of conventional risk factors. Clinicians should be aware of the potential association between congenital vena cava anomalies and thrombotic events, as early recognition and appropriate management are crucial for preventing complications such as pulmonary embolism.

Primary intrapulmonary thymoma a case report.

Primary intrapulmonary thymoma (PIT), defined as the presence of thymoma tissue in the lung without an accompanying mediastinal component, is uncommon and so offers a diagnostic quandary. We describe the case of PIT in an 81-year-old man.

Etiology, diagnostic modalities, and short-term outcomes of hemoptysis-a retrospective cross-sectional study from a tertiary care center in Qatar.

Background: Hemoptysis is a concerning symptom characterized by the expectoration of blood from the respiratory tract, which can range from mild to life-threatening. It can be caused by various underlying conditions. Accurate diagnosis is critical for effective management. The causes of hemoptysis can vary depending on geographic location and the population's composition. In this study, we aimed to examine the etiology, diagnostic methods, and short-term outcomes of hemoptysis in Qatar, focusing on data from Hamad General Hospital (HGH), which serves as a major tertiary care center in the country. Qatar has a diverse and dynamic population, primarily composed of expatriate workers, especially from South Asia. Previous data on hemoptysis in Qatar was collected between 1997 and 2007, when the population was considerably smaller and less diverse. Given the substantial growth in population and diversity since then, this study sought to provide updated information on the causes and outcomes of hemoptysis in the region. Methods: This is a retrospective single center observational data review from the largest tertiary care center of Qatar, HGH. Patients who presented to HGH from 01/07/2015 to 30/06/2018 with hemoptysis were included in the study. Descriptive and summary statistics were described and analyzed using SPSS version 23. Results: A total of 172 patients met the inclusion criteria. Most of the patients were male (74.4%) with a mean age of 37.9±16.4 years. South Asians (43.6%) accounted for the majority followed by Qatari nationals (20.3%). Mild hemoptysis was recorded in 89.5% of patients while only 3.5% had severe hemoptysis. The mean duration of hemoptysis was 1.72±0.72 days. The most common etiology was respiratory infection in 72.6% of the patients followed by tuberculosis (TB) and bronchiectasis 7% each. All patients were managed with observation or antimicrobials except two of the patients with severe hemoptysis who required bronchial artery embolization (BAE). There were no reports of recurrence of hemoptysis or deaths until hospital discharge. Conclusions: Respiratory infection is the most common cause of hemoptysis at our center. Mild hemoptysis is the major presentation and the majority improved with conservative treatment.

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.

Background: Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the Palestinian PCD population. Methods: Individuals with symptoms suggestive of PCD were opportunistically considered for diagnostic testing: nasal nitric oxide (nNO) measurement, transmission electron microscopy (TEM) and/or PCD genetic panel or whole-exome testing. Clinical characteristics of those with a positive diagnosis were collected close to testing including forced expiratory volume in 1 s (FEV1) Global Lung Index z-scores and body mass index z-scores. Results: 68 individuals had a definite positive PCD diagnosis, 31 confirmed by genetic and TEM results, 23 by TEM results alone, and 14 by genetic variants alone. 45 individuals from 40 families had 17 clinically actionable variants and four had variants of unknown significance in 14 PCD genes. CCDC39, DNAH11 and DNAAF11 were the most commonly mutated genes. 100% of variants were homozygous. Patients had a median age of 10.0 years at diagnosis, were highly consanguineous (93%) and 100% were of Arabic descent. Clinical features included persistent wet cough (99%), neonatal respiratory distress (84%) and situs inversus (43%). Lung function at diagnosis was already impaired (FEV1 z-score median -1.90 (-5.0-1.32)) and growth was mostly within the normal range (z-score mean -0.36 (-3.03-2.57). 19% individuals had finger clubbing. Conclusions: Despite limited local resources in Palestine, detailed geno- and phenotyping forms the basis of one of the largest national PCD populations globally. There was notable familial homozygosity within the context of significant population heterogeneity.

Rapidly recurring massive pleural effusion as the initial presentation of sarcoidosis: A case report.

RATIONALE: Sarcoidosis is a multisystem granulomatous disease with unknown etiology. It affects mainly the lungs, but it can affect almost any other organ. Nevertheless, pleural involvement with the development of pleural effusion is relatively rare. It is usually mild and responsive to treatment with systemic steroids. Here we present a case of rapidly recurring massive unilateral pleural effusion caused by sarcoidosis that was resistant to systemic steroids. PATIENT CONCERNS: A 55-year-old lady presented with shortness of breath of 2-months duration. No other respiratory symptoms were reported. On physical examination, there were signs of left-sided pleural effusion, splenomegaly, and inguinal lymph nodes. These findings were confirmed by chest x-ray showing massive pleural effusion. Work up of the effusion revealed an exudative effusion with lymphocyte predominance. Pan-computed tomography scan revealed multiple thoracic, abdominal and inguinal lymphadenopathy; additionally, a left-sided pleural effusion and an enlarged spleen; that contained variable hypodense nodular lesions. Positron emission tomography-computed tomography showed intense uptake in the spleen and the lymph nodes. Inguinal lymph node biopsy showed non-necrotizing granulomatous inflammation. Due to suspicion of malignancy, left medical thoracoscopy was done, and biopsy of the parietal pleura showed nonspecific inflammation without evidence of malignancy or tuberculosis. DIAGNOSIS: Sarcoidosis was diagnosed based on the finding of the non-necrotizing granulomatous inflammation with no evidence of malignancy or infection on several microbiological and pathological samples. INTERVENTIONS: The patient was treated with repeated pleural fluid drainage. Steroids failed to prevent pleural effusion recurrence. Surgical left side pleurodesis was eventually performed. OUTCOMES: At more than 1 year follow up, the patient showed no recurrence of pleural effusion or development of any other symptoms. LESSONS: Sarcoidosis may rarely present with massive pleural effusion, as this presentation is rare; it is imperative to rule out other causes of massive pleural effusion. Massive pleural effusion in sarcoidosis may be steroid-resistant. Pleurodesis may have a role in such a scenario.

Recurrent chest pain as a rare presentation of extra-pelvic endometriosis.

Periodic chest pain, with bloody pleural effusion should raise the suspicion of pleural endometriosis as a well-known, but a rare condition in clinical practice.

A series of unfortunate events: Mind the windpipe.

Since we started seeing post-COVID pneumonia patients in our clinics, tracheo-laryngeal stenosis should be kept in mind as an important sequela of prolonged intubation (>7 days) particularly in those who are persistently symptomatic.

Massive Pulmonary Embolism as the Initial Presentation of Acromegaly: Is Acromegaly a Hypercoagulable Condition?

BACKGROUND The clinical presentation in acromegaly is usually insidious, with headaches or visual disturbances being the most common symptoms. Previous studies have shown higher fibrinogen levels, lower protein C and S activity values, and enhanced platelet function in patients with acromegaly compared to a normal population. Nevertheless, the link between hypercoagulability and acromegaly is often overlooked and rarely reported in the literature. CASE REPORT We report a case of a young man with a massive pulmonary embolism as the initial presentation of acromegaly. Extensive workup excluded other causes of thrombophilia. Furthermore, the diagnosis of acromegaly was confirmed by the patient's clinical features as well as laboratory and radiological testing. A literature review on the link between hypercoagulability and acromegaly was performed. CONCLUSIONS This case report shed light on hypercoagulability as an under-recognized serious complication of acromegaly and paves the road for future studies on this topic.