COVID-19-associated hypertriglyceridemia and impact of treatment

BackgroundCoronavirus 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.MethodsA 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).ResultsOf 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).ConclusionHypertriglyceridemia 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

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

Recurrent chest pain as a rare presentation of extra‐pelvic endometriosis

Abstract 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

Primary intrapulmonary thymoma a case report

Abstract 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

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

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

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.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 FEV1 GLI z-scores, and BMI z-scores.Sixty-eight 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. Forty-five individuals from 40 families had seventeen clinically actionable variants, and 4 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 median age of 11.2 years at diagnosis, were highly consanguineous (93%) and 100% 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 to 1.32)) and growth was mostly within the normal range (z-score mean= -0.36 (-3.03 to 2.57). 19% individuals had finger clubbing. Despite limited local resources, 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. <br/