Congenital lung disorder

We present a unique case of a fetus with dextrocardia, asplenia and a right bilobed lung in a primigravida woman in her 20s at 21 weeks' gestation. Prenatal ultrasound examination revealed dextrocardia and other anomalies such as atrioventricular septal defect and situs ambiguous with the gallbladder on the left, leading to termination of the pregnancy. Fetal autopsy confirmed the diagnosis, detected additional findings such as asplenia and right bilobed lung missed on ultrasound and highlighted the importance of autopsy in prenatal diagnosis...

AIM: No studies have described long-term paediatric home respiratory support in Nordic countries. We examined the clinical characteristics and long-term outcomes of paediatric patients who received continuous positive airway pressure, non-invasive-positive-pressure ventilation and invasive ventilation from a multidisciplinary home respiratory support team. METHODS: Retrospective tertiary-level data were collected between 1 January 2010 and 31 December 2020 in Tampere University Hospital...

Background: SOX2 disorders are associated with anophthalmia-esophageal-genital syndrome or microphthalmia, syndromic 3 (MCOPS3- # 206900). Case Report: We describe a third fetal case with a de novo 3q26.32q26.33 deletion extending for 4.31 Mb, detected in a 15-week fetus. After legal interruption of pregnancy, at autopsy, the fetus presented bilateral microphthalmia, right cleft lip and palate, bilateral cerebral ventriculomegaly and dilated third ventricle, microcystic left lung, and intestinal malrotation...

Scimitar syndrome is a subtype of partial anomalous pulmonary venous connection, a rare congenital disorder associated with hypoplasia of the right lung. In addition to the difficulty of isolated lung ventilation, resection of the left lung is associated with the risk of developing right heart failure due to increased right-to-left shunts. We report a case of a left lung metastasis of a patient with scimitar syndrome. The patient, a 58-year-old male, was diagnosed with scimitar syndrome at the age of 26 but had never experienced any symptoms...

BACKGROUND: Congenital pulmonary malformations (CPMs) are rare in children. This study aimed to describe the clinical, imaging characteristics, and treatment of patients with this pathology. METHODS: We conducted a descriptive and retrospective study with data from patients with CPMs diagnosed at Instituto Nacional de Salud del Niño-Breña (Lima-Peru), from January 2010 to December 2020. We described CPM clinical and imaging characteristics, type and treatment...

Pulmonary sequestration is a rare congenital condition. It is a dysplastic lung tissue with a separate systemic blood supply and without a bronchial tree connection. The emergence of a superimposed infection can lead to its diagnosis, such as Staphylococcus aureus, Pseudomonas aeruginosa, Nocardia asteroids and Aspergillus sp pneumonia. Mycobacterium avium complex (MAC) superimposed disease is exceedingly rare. We report a case of a man in his third decade without known medical disorders presenting with a persistent cough...

CHARGE syndrome (CS) is a rare genetic disease that affects many areas of the body. The aim of the present systematic review was to evaluate the prevalence and types of congenital heart diseases (CHDs) in CS and their impact on clinical outcome. A systematic review from 1981 to September 2022 was conducted. Clinical studies that reported the association between CS and CHDs were identified, including a case report of a rare congenital anomaly of the aortic arch (AA) with persistent fifth aortic arch (PFAA). Demographic, clinical and outcome data were extracted and analyzed...

BACKGROUND: Hamartoma is a mass formed by the proliferation and disorder of two or more kinds of cells inherent in normal organs or anatomical parts, which can occur in any part of the body. The most common hamartoma are kidney hamartoma, spleen hamartoma, liver hamartoma, and lung hamartoma. Urethral hamartoma is extremely rare in clinical practice. CASE REPORT: Combined with literature review, the diagnosis and treatment process of a child with posterior urethral hamartoma and hypospadias in our hospital were analyzed...

Pulmonary hypertension (PH) is a group of pulmonary vascular disorders in which mean pulmonary arterial pressure (mPAP) becomes abnormally high because of various pathological conditions, including remodeling of the pulmonary arteries, lung and heart disorders, or congenital conditions. Various animal models, including mouse and rat models, have been used to recapitulate elevated mPAP observed in PH patients. However, the measurement and recording of mPAP and mean systemic arterial pressure (mSAP) in small animals require microsurgical procedures and a sophisticated data acquisition system...

Although pediatric pulmonary hypertension (PH) shares features and mechanisms with adult PH, there are also some significant differences between the two conditions. Segmental PH is a unique pediatric subtype of PH with unclear and/or multifactorial pathophysiological mechanisms, and is often associated with complex congenital heart disease (CHD), pulmonary atresia with ventricular septal defect, and aortopulmonary collateral arteries. Some cases of complex CHD, associated with a single ventricle after Fontan operation, show pathological changes in the small peripheral pulmonary arteries and pulmonary vascular resistance similar to those observed in pulmonary arterial hypertension (PAH)...

INTRODUCTION: De novo mutations contribute to a large proportion of sporadic psychiatric and developmental disorders, yet the potential role of environmental carcinogens as drivers of causal de novo mutations in neurodevelopmental disorders is poorly studied. METHODS: To explore environmental mutation vulnerability of disease-associated gene sets, we analyzed publicly available whole genome sequencing datasets of mutations in human induced pluripotent stem cell clonal lines exposed to 12 classes of environmental carcinogens, and human lung cancers from individuals living in highly polluted regions...

Endothelial cell dysfunction occurs in a variety of acute and chronic pulmonary diseases including pulmonary hypertension, viral and bacterial pneumonia, bronchopulmonary dysplasia, and congenital lung diseases such as alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). To correct endothelial dysfunction, there is a critical need for the development of nanoparticle systems that can deliver drugs and nucleic acids to endothelial cells with high efficiency and precision. While several nanoparticle delivery systems targeting endothelial cells have been recently developed, none of them are specific to lung endothelial cells without targeting other organs in the body...

Alveolar capillary dysplasia with misalignment of pulmonary Veins (ACDMPV) is a lethal congenital lung disorder that presents shortly after birth with respiratory failure and therapy-resistant pulmonary hypertension. It is associated with heterozygous point mutations and genomic deletions that involve the FOXF1 gene or its upstream regulatory region. Patients are unresponsive to the intensive treatment regiments and suffer unnecessarily, because ACDMPV is not always timely recognized and histological diagnosis is invasive and time-consuming...

PURPOSE: Advances in treatment enables most patients with congenital heart diseases (CHD) to survive into adulthood, implying the need to address comorbid conditions in this growing cohort of patients. The aim of this study was to evaluate the prevalence of sleep-disordered breathing (SDB) and lung function abnormalities in patients with adult congenital heart disease (ACHD). METHODS: Patients with ACHD underwent level 3 sleep testing (Embletta MPR polygraphy) and pulmonary function testing...

Carbohydrate sulfotransferases (CHST) catalyse the biosynthesis of proteoglycans that enable physical interactions and signalling between different neighbouring cells in physiological and pathological states. The study aim was to provide an overview of emerging diagnostic and prognostic applications of CHST. PubMed database search was conducted using the keywords "carbohydrate sulfotransferase" together with appropriate inclusion and exclusion criteria, whereby 41 publications were selected. Additionally, 40 records on CHST genetic and biochemical properties were hand-picked from UniProt, GeneCards, InterPro, and neXtProt databases...

The field of rare and diffuse pediatric lung disease continues to evolve and expand rapidly as clinicians and researchers make advancements in the diagnosis and treatment of children's interstitial and diffuse lung disease, non-cystic fibrosis bronchiectasis, and primary ciliary dyskinesia. Papers published on these topics in Pediatric Pulmonology and other journals in 2022 describe newly recognized disorders, elucidate disease mechanisms and courses, explore potential biomarkers, and assess novel treatments...

PURPOSE: The gastrointestinal system is the most commonly affected organ, followed by the lungs, in patients with primary immunodeficiency disease (PID). Hence, it is common for children with PIDs to present with gastrointestinal symptoms. We aimed to analyze the clinical and histopathological findings of patients who were initially admitted to pediatric gastroenterology/hepatology clinics and subsequently diagnosed with PIDs to identify the clinical clues for PIDs. METHODS: The demographic, laboratory, and histopathological findings, treatment modality, and outcomes of patients initially admitted to the pediatric gastroenterology/hepatology unit and subsequently diagnosed with PIDs were recorded...

Dolphins are marine mammals that often live in coastal habitats. Common causes of severe skeletal disorders among wild dolphins are congenital vertebral anomalities, collisions with sea vessels, trauma, hunting-related injury, infectious diseases, environmental pollution, and tumors. A free-ranging male, 3-year-old common dolphin ( Delphinus delphis ) was found dead in the coast of Asturias in northern Spain. Postmortem examination revealed lordosis in the caudal vertebral column, while X-ray imaging and computer tomography showed well-organized palisade-like periosteal proliferation, appearing as florid-like accretions, along the spinous apophysis of 26 lumbar-caudal vertebrae...

The incapacity to synthesize certain components of pulmonary surfactant causes a heterogeneous group of rare respiratory diseases called genetic disorders of surfactant dysfunction. We report a female full-term infant with neonatal respiratory distress of early onset due to inherited SP-B deficiency. The infant failed oxygen weaning at multiple trials. Chest computed tomography was performed on the 29th day of life revealing ground-glass opacities, regular interlobular septal thickening and fine interlobular reticulations...

Pericardial defects are rare congenital disorders. We report a case of left lower lobectomy in a patient with lung cancer, a congenital complete left-sided pericardial defect, and severe pleural adhesions. The pleural adhesions between the epicardium and lungs were carefully dissected, and left lower lobectomy with mediastinal nodal dissection was performed under complete video-assisted thoracoscopic surgery without pericardial reconstruction. The patient remained asymptomatic for 20 months postoperatively...