scholarly journals Genetic variants of small airways and interstitial pulmonary disease in children

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mohammed T. Alsamri ◽  
Amnah Alabdouli ◽  
Alia M. Alkalbani ◽  
Durdana Iram ◽  
Mohamed I. Tawil ◽  
...  
Keyword(s):  
Pulmonary Disease ◽  
Respiratory Disease ◽  
Genetic Variants ◽  
Interstitial Fibrosis ◽  
Clinical Care ◽  
Foreign Body Giant Cell ◽  
Compound Heterozygous ◽  
Small Airways ◽  
Genetic Studies ◽  
Interstitial Pulmonary Disease

AbstractGenetic variants of small airways and interstitial pulmonary disease have not been comprehensively studied. This cluster of respiratory disorders usually manifests from early infancy (‘lung disease in utero’). In this study, 24 variants linked to these entities are described. The variants involved two genes associated with surfactant metabolism dysfunction (ABCA3 and CSF2RB), two with pulmonary fibrosis (MUC5B and SFTP), one with bronchiectasis (SCNN1B), and one with alpha-1-antitrypsin deficiency (SERPINA1). A nonsense variant, MUC5B:c.16861G > T, p.Glu5621*, was found in homozygous state in two siblings with severe respiratory disease from birth. One of the siblings also had heterozygous SFTPA1:c.675C > G, p.Asn225Lys, which resulted in a more severe respiratory disease. The sibling with only the homozygous MUC5B variant had lung biopsy, which showed alveolar simplification, interstitial fibrosis, intra-alveolar lipid-laden macrophages, and foci of foreign body giant cell reaction in distal airspaces. Two missense variants, MUC5B:c.14936 T > C, p.Ile4979Thr (rs201287218) and MUC5B:c.16738G > A, p.Gly5580Arg (rs776709402), were also found in compound heterozygous state in two siblings with severe respiratory disease from birth. Overall, the results emphasize the need for genetic studies for patients with complex respiratory problems. Identifying pathogenic variants, such as those presented here, assists in effective family counseling aimed at genetic prevention. In addition, results of genetic studies improve the clinical care and provide opportunities for participating in clinical trials, such as those involving molecularly-targeted therapies.

Small Airways and Interstitial Pulmonary Disease

CHEST Journal ◽  
1980 ◽  
Vol 77 (4) ◽  
pp. 470-473 ◽  
Author(s):  
Jack D. Fulmer ◽  
William C. Roberts
Keyword(s):  
Pulmonary Disease ◽  
Small Airways ◽  
Interstitial Pulmonary Disease

scholarly journals Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome

2021 ◽  
Vol 23 (3) ◽  
Author(s):  
Ania M. Fiksinski ◽  
Maude Schneider ◽  
Janneke Zinkstok ◽  
Danielle Baribeau ◽  
Samuel J. R. A. Chawner ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Clinical Care ◽  
Psychiatric Morbidity ◽  
Phenotypic Expression ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Lessons Learned ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Variable Expression

AbstractPurpose of ReviewThe 22q11.2 deletion syndrome (22q11DS) is associated with a broad spectrum of neurodevelopmental phenotypes and is the strongest known single genetic risk factor for schizophrenia. Compared to other rare structural pathogenic genetic variants, 22q11DS is relatively common and one of the most extensively studied. This review provides a state-of-the-art overview of current insights regarding associated neurodevelopmental phenotypes and potential implications for 22q11DS and beyond.Recent FindingsWe will first discuss recent findings with respect to neurodevelopmental phenotypic expression associated with 22q11DS, including psychotic disorders, intellectual functioning, autism spectrum disorders, as well as their interactions. Second, we will address considerations that are important in interpreting these data and propose potential implications for both the clinical care for and the empirical study of individuals with 22q11DS. Third, we will highlight variable penetrance and pleiotropy with respect to neurodevelopmental phenotypes in 22q11DS. We will discuss how these phenomena are consistently observed in the context of virtually all rare pathogenic variants and that they pose substantial challenges from both a clinical and a research perspective.SummaryWe outline how 22q11DS could be viewed as a genetic model for studying neurodevelopmental phenotypes. In addition, we propose that 22q11DS research can help elucidate mechanisms underlying variable expression and pleiotropy of neurodevelopmental phenotypes, insights that are likely relevant for 22q11DS and beyond, including for individuals with other rare pathogenic genetic variants and for individuals with idiopathic neurodevelopmental conditions.

scholarly journals Onset of Multiple Chronic Conditions and Depressive Symptoms: A Life Events Perspective

2017 ◽  
Vol 1 (2) ◽  
Author(s):  
Maureen Wilson-Genderson ◽  
Allison R Heid ◽  
Rachel Pruchno
Keyword(s):  
Heart Disease ◽  
Depressive Symptoms ◽  
Pulmonary Disease ◽  
Chronic Conditions ◽  
Clinical Care ◽  
Psychological Impact ◽  
Multiple Chronic Conditions ◽  
Care Providers ◽  
The Subject ◽  
Independent Effects

Abstract Background While the association between depressive symptoms and chronic illness has been the subject of many studies, little is known about whether depressive symptoms differ as a function of the illnesses people have as they transition to living with multiple chronic conditions. Methods Self-reports of five diagnosed chronic conditions (arthritis, diabetes, heart disease, hypertension, and pulmonary disease) and depressive symptoms were provided by 3,396 people participating in three waves of the ORANJ BOWLSM research panel. Longitudinal multilevel modeling was used to examine the effects that transitioning to having a diagnosis of multiple chronic conditions has on depressive symptoms. Results Between 2006 and 2014, controlling for age, gender, income, race, and a lifetime diagnosis of depression, people who transitioned to having a diagnosis of multiple chronic conditions had significantly higher levels of depressive symptoms than people who did not make this transition. The diagnosis of arthritis, diabetes, heart disease, and pulmonary disease, but not hypertension had independent effects, increasing depressive symptoms. Conclusions Having a diagnosis of multiple chronic conditions leads to increases in depressive symptoms, but not all illnesses have the same effect. Findings highlight the need for clinicians to be aware of mental health risks in patients diagnosed with multiple chronic conditions, particularly those with a diagnosis of arthritis, diabetes, heart disease, and pulmonary disease. Clinical care providers should take account of these findings, encouraging psychosocial supports for older adults who develop multiple chronic conditions to minimize the negative psychological impact of illness diagnosis.

Gastroesophageal Reflux and Pulmonary Disease

PEDIATRICS ◽  
1981 ◽  
Vol 68 (1) ◽  
pp. 132-134
Author(s):  
John J. Herbst
Keyword(s):  
Gastroesophageal Reflux ◽  
Pulmonary Disease ◽  
Respiratory Disease ◽  
Chronic Respiratory Disease ◽  
Chronic Asthma ◽  
Recurrent Pneumonia ◽  
Reliable Test ◽  
The Relationship ◽  
Complex Cases

Chronic respiratory disease is a well-established complication of gastroesophageal reflux (GER).1-3 The elucidation of the relationship between the two events is hampered by the lack of a reliable test that indicates the presence or absence of GER and the lack of a test that consistently demonstrates that the pulmonary symptoms are directly caused by GER.4 In addition, GER may only contribute to the severity of the pulmonary disease, as in chronic asthma.5 In this issue of Pediatrics, Berquist et al describe their experience in evaluating 82 patients for GER who also had recurrent pneumonia or asthma.6 This article is of great value to clinicians who must care for these complex cases.

Respiratory medicine

2014 ◽  
pp. 293-340
Author(s):  
Chantal Simon ◽  
Hazel Everitt ◽  
Françoise van Dorp ◽  
Matt Burkes
Keyword(s):  
Lung Cancer ◽  
Chronic Obstructive Pulmonary Disease ◽  
Drug Treatment ◽  
Pulmonary Disease ◽  
Respiratory Disease ◽  
Asthma Management ◽  
Respiratory Medicine ◽  
Chronic Obstructive ◽  
Obstructive Pulmonary Disease ◽  
Acute Exacerbations

Breathlessness Cough Chest signs Other signs of respiratory disease Respiratory investigations Bronchodilators and steroids Asthma in adults Asthma management in practice Drug treatment of asthma Chronic obstructive pulmonary disease Management of COPD Acute exacerbations of COPD Lung cancer Colds and influenza Pneumonia in adults Tuberculosis...

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