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Case Reflection of a Child With p.Phe312del/p.Phe508del Genotype Undetected on Newborn Screening and With No Clinical Features of Cystic Fibrosis Despite a Sweat Chloride Value in the Diagnostic Range.

This clinical overview reflects on a case of a nine-month-old boy presenting with mild bronchiolitis and persistently elevated transaminases. A total creatine kinase (CK) was requested to assess for dystrophinopathies, which was significantly elevated at 3000 U/L on repeat samples. Molecular testing confirmed the diagnosis of Becker's muscle dystrophy (BMD). During molecular testing, two cystic fibrosis (CF) mutations were incidentally detected, a p.Phe312del mutation and the classic CF-causing mutation p.Phe508del. Sweat chloride testing was repeatedly elevated in keeping with the diagnosis o…

Macronutrient and Micronutrient Intake in Children with Lung Disease.

This review article aims to summarize the literature findings regarding the role of micronutrients in children with lung disease. The nutrit … with better outcomes in children with lung diseases, including pneumonia, cystic fibrosis, asthma, bronchiolitis, and acute respiratory failure.

Simultaneous quantification of tiotropium bromide impurities G + H in capsule formulation by LC-MS/MS.

Tiotropium Bromide is a long-acting bronchodilator that is used in the treatment of chronic obstructive pulmonary disease (COPD) and asthma bronchodilator or bronchiolitis, which are substances that expand the bronchi and reduce resistance in the respiratory tract and increase airflow to the lungs. For Tiotropium Bromide found in inhaler capsules to treat COPD, determining the relevant impurities G and H, which are not UV active, is crucial. For this purpose, a new and sensitive liquid chromatography triple-quadrupole mass spectrometry (LC-MS/MS) detection with electrospray ionization by using…

Tomographic pleuropulmonary manifestations in rheumatoid arthritis: a pictorial essay.

Rheumatoid arthritis (RA) is an autoimmune inflammatory and heterogeneous disease that affects several systems, especially the joints. Among the extra-articular manifestations of RA, pleuropulmonary involvement occurs frequently, with different presentations, potentially in all anatomic thoracic compartments, and may determine high morbidity and mortality. The most common pleuropulmonary manifestations in patients with RA include interstitial lung disease (ILD), pleural disease, pulmonary arterial hypertension, rheumatoid lung nodules, airway disease (bronchiectasis and bronchiolitis), and lym…

COVID-19-associated pneumonia in Swyer-James-MacLeod syndrome: A case report.

Coronavirus disease 2019 (COVID-19) exerts differential effects on various individuals. The majority of infected individuals experience mild … Swyer-James-MacLeod syndrome is an uncommon clinical condition marked by post-infectious infantile bronchiolitis obliterans. Traditionally, the diagnosis is made in infancy following an investigation for reoccurring respiratory infections, although in rare cases, the diagnosis is made in adulthood. The present study describes the case of a 45-year-old patient …

Respiratory virus infections in hospitalized and non-hospitalized children: determinants of severe course of the disease.

INTRODUCTION: Viral respiratory disease constitutes a great burden worldwide mainly among children. OBJECTIVE: One pursued to compare disea … ratory distress had well defined characteristics: early age, respiratory syncytial virus infection, bronchiolitis and presence of comorbidity. Nevertheless, rapid respiratory syncytial virus identification among early age children may be of great value in order to avoid medical misconduct, such as unnecessary antibiotic prescription and preventive health care b …

Etiologies of outpatient medically attended acute respiratory infections among young Ecuadorian children prior to the start of the 2020 SARS-CoV-2 pandemic.

BACKGROUND: Implementation of respiratory virus prevention measures requires detailed understanding of regional epidemiology; however, data … (13%). Enterovirus D68 was the most common enterovirus detected and was among the leading causes of bronchiolitis. Seasonal RSV and influenza virus activity were different along the coast compared with the highlands. CONCLUSIONS: Ongoing regional surveillance studies are necessary to optimize available and emerging pathogen-specific preventative measures.

Инфекции аденовирусов у педиатрического населения - Обновленная информация о клинической-патологической корреляции.

Человеческие аденовирусы могут вызывать инфекции в любом возрасте, но чаще всего у педиатрического населения, особенно у маленьких детей и младенцев. К 10 годам у большинства детей был хотя бы один приступ аденовирусной инфекции. Аденовирусы могут вызывать множество симптомов, схожих с обычным холодом, включая носорогеррею, лихорадку, кашель и боль в горле. Низкие респираторные инфекции, такие как бронхит, бронхиолит и пневмония, могут быть тяжелыми и даже смертельными. Другие заболевания, такие, как конъюнктивит, гастроэнтерит, цитит, миокардит, кардиомиопатия и менингоэнцефалит, также могут

Совпадение в аннотации оригинала
Human adenoviruses can cause infections at any age but most commonly in pediatric population, especially in young children and infants. By t … cluding rhinorrhea, fever, cough, and sore throat. Lower respiratory infections such as bronchitis, bronchiolitis, and pneumonia can be severe and even fatal. Other diseases such as conjunctivitis, gastroenteritis, cystitis, myocarditis, cardiomyopathy, and meningoencephalitis can also be associated with adenovirus infections. A variety of recent advancement of …

Investigating into segmentation methods for diagnosis of respiratory diseases using adventitious respiratory sounds.

Respiratory condition has received a great amount of attention nowadays since respiratory diseases recently become the globally leading caus … i-classification task of identifying subjects in 6 respiratory conditions (healthy, bronchiectasis, bronchiolitis, COPD, pneumonia and URTI). Specifically, 14 combinations of respiratory sound segments were compared and we found segmentation plays an important role in classifying different respiratory conditions. The classifier with best performance (accuracy = …

Ruxolitinib salvage therapy is effective for steroid-refractory graft-versus-host disease in children: A single-center experience.

BACKGROUND: Despite the increasing performance of allogeneic hematopoietic cell transplantation over the last decades, graft-versus-host dis … of chronic GVHD (moderate-severe) patients had at least a partial response. Of seven patients with bronchiolitis obliterans, five had a partial response after ruxolitinib. Of 29 patients, 22 were administered steroids at any time in the first month of acute GVHD or the first three months of chronic GVHD during ruxolitinib usage, which was significantly tapered …

Risks of severe hyponatremia in children receiving hypotonic fluids.

Intravenous fluids are frequently used in hospitalized children. Hypotonic fluids have been the standard of care in pediatrics for many years. This might be explained by the empiricism of early recommendations favoring fluids with dextrose, but an insufficient amount of sodium. The risk of hyponatremia (<135mmol/L) might be increased by the occurrence of the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in the course of common acute diseases (e.g., bronchiolitis, acute gastroenteritis, encephalitis, meningitis) in children. Severe hyponatremia (<130mmol/L) is often associ…

Respiratory infections and coinfections: geographical and population patterns.

INTRODUCTION: Acute respiratory infections are the second cause of mortality in children younger than five years, with 150.7 million episodes per year. Human orthopneumovirus (hOPV) and metapneumovirus (hMPV) are the first and second causes of bronchiolitis; type 2 human orthorubulavirus (hORUV) has been associated with pneumonia in immunocompromised patients. OBJECTIVE: To define hOPV, hMPV and hORUV geographical distribution and circulation patterns. METHOD: An observational, prospective cross-sectional pilot study was carried out. Two-hundred viral strains obtained from pediatric patients…

Disseminated Histoplasmosis as an AIDS-Defining Illness Presenting as Fever of Unknown Origin in an 11-Year-Old Female.

A previously healthy 11-year-old female, who emigrated from Central America four years prior, was admitted with eight days of fever, night sweats, and anorexia. Past medical history included severe bronchiolitis, varicella, and hepatitis A as a child. Upon admission, her physical exam was significant for nontender cervical lymphadenopathy, intermittent erythematous papules on the upper extremities, and mild abdominal tenderness. Initial laboratory studies revealed leukopenia, anemia, elevated inflammatory markers, and antibodies to HIV-1 in the patient's serum and cerebrospinal fluid. Computed…

A fatal case associated with respiratory syncytial virus infection in a young child.

BACKGROUND: Respiratory syncytial virus (RSV) is the most common viral cause of pediatric bronchiolitis and pneumonia worldwide. Risk factors for high mortality and prolonged morbidity after RSV infection include premature birth, bronchopulmonary dysplasia, congenital heart disease, and Down syndrome. However, some previously healthy, full-term children who are infected with RSV also require hospitalization and even experience severe sequelae or death. CASE PRESENTATION: In this report, we present the case of an RSV-associated death of a child who was born at full-term and developed normally …

The CD8 T Cell Response to Respiratory Virus Infections.

Humans are highly susceptible to infection with respiratory viruses including respiratory syncytial virus (RSV), influenza virus, human metapneumovirus, rhinovirus, coronavirus, and parainfluenza virus. While some viruses simply cause symptoms of the common cold, many respiratory viruses induce severe bronchiolitis, pneumonia, and even death following infection. Despite the immense clinical burden, the majority of the most common pulmonary viruses lack long-lasting efficacious vaccines. Nearly all current vaccination strategies are designed to elicit broadly neutralizing antibodies, which prev…

A 46-Year-Old Man With Dyspnea, Hypoxemia, and Radiographic Asymmetry After Redo Bilateral Lung Transplantation.

A 46-year-old man underwent redo bilateral sequential lung transplantation for rapidly progressive bronchiolitis obliterans syndrome that developed 3.5 years after initial transplantation. In the operating room, he was sedated and intubated with a dual lumen endotracheal tube with subsequent single right-lung ventilation and left allograft implantation. His pulmonary arterial pressure became elevated with reperfusion of the newly implanted left lung, which required initiation of cardiopulmonary bypass to facilitate implantation of the right lung. After implantation and reperfusion of the right…

Changing diagnosis coding routines may confound the results of longitudinal childhood pneumonia studies.

AIM: This Swedish study compared the discharge diagnosis codes used for children up to the age of five hospitalised for acute lower respirat … ral infections and us changing the code for respiratory syncytial virus infection from pneumonia to bronchiolitis. The overall rate of acute lower respiratory tract infections was unchanged. CONCLUSION: We could not determine how much of the reduction in bacterial pneumonia in children under one was because of the introduction of the pneumococcal conjugate vac …

Current Concepts in Pathogenesis, Diagnosis, and Management of Smoking-Related Interstitial Lung Diseases.

Tobacco exposure results in various changes to the airways and lung parenchyma. Although emphysema represents the more common injury pattern … our recognition of the spectrum of smoking-related interstitial lung changes. Although respiratory bronchiolitis-interstitial lung disease, desquamative interstitial pneumonia, pulmonary Langerhans cell histiocytosis, and acute eosinophilic pneumonia have a well-established association with tobacco use, its role and impact on idiopathic pulmonary fibrosis, com …

Long-term outcomes and management of lung transplant recipients.

Lung transplantation is an established treatment for patients with end-stage lung disease. Improvements in immunosuppression and therapeutic management of infections have resulted in improved long-term survival and a decline in allograft rejection. Allograft rejection continues to be a serious complication following lung transplantation, thereby leading to acute graft failure and, subsequently, chronic lung allograft dysfunction (CLAD). Bronchiolitis obliterans syndrome (BOS), the most common phenotype of CLAD, is the leading cause of late mortality and morbidity in lung recipients, with 50% h…

High-resolution computed tomography and histopathological findings in hypersensitivity pneumonitis: a pictorial essay.

Hypersensitivity pneumonitis is a diffuse interstitial and granulomatous lung disease caused by the inhalation of any one of a number of ant … on computed tomography findings, whereas histopathology shows lymphocytic inflammatory infiltrates, bronchiolitis, variable degrees of organizing pneumonia, and giant cells. In the chronic form, high-resolution computed tomography shows traction bronchiectasis, honeycombing, and lung fibrosis, the last also being seen in the biopsy sample. A definitive diagnosi …