Obstructive sleep apnea (OSA) is a global public health concern characterized by repeated upper airway collapse during sleep. Research indicates that OSA is a risk factor for the development of various diseases, including cardiovascular disease, metabolic disorders, respiratory diseases, neurodegenerative diseases, and cancer. Exosomes, extracellular vesicles released by most cell types, play a key role in intercellular communication by transporting their contents-such as microRNA, messenger RNA, DNA, proteins, and lipids-to target cells. Intermittent hypoxia associated with OSA alters circulating exosomes and promotes a range of cellular structural and functional disturbances involved in the pathogenesis of OSA-related diseases. This review discusses the potential roles of exosomes and exosome-derived molecules in the onset and progression of OSA-associated diseases, explores the possible underlying mechanisms, and highlights novel strategies for developing exosome-based therapies for these conditions.
Humans ; Exosomes/physiology* ; Sleep Apnea, Obstructive/metabolism* ; Animals ; MicroRNAs/metabolism*

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare autosomal dominant hereditary disorder characterized by multisystem vascular malformations, including mucocutaneous telangiectasia and arteriovenous malformations. This paper reports a case of a male patient with HHT admitted to the Second Xiangya Hospital of Central South University who presented with hemoptysis, an uncommon manifestation in HHT. Imaging revealed bilateral bronchial artery dilatation and tortuosity, as well as bilateral pulmonary artery enlargement. Whole-exome sequencing for monogenic disorders ultimately identified an ACVRL1 gene mutation, confirming a diagnosis of HHT type 2. Diagnosis of HHT is primarily based on clinical manifestations, imaging findings, and family history, while genetic testing facilitates definitive diagnosis and subtyping. Anti-angiogenic therapy has proven to be an effective and safe treatment approach for controlling hemoptysis, epistaxis, and gastrointestinal bleeding in HHT patients. This case highlights the importance of early genetic screening in suspected cases to enable timely etiological clarification and intervention.
Humans ; Telangiectasia, Hereditary Hemorrhagic/diagnosis* ; Hemoptysis/etiology* ; Male ; Activin Receptors, Type II/genetics* ; Mutation

Obstructive sleep apnea (OSA) is a common condition that has considerable impacts on human health. Epigenetics has become a rapidly developing and exciting area in biology, and it is defined as heritable alterations in gene expression and has regulatory effects on disease progression. However, the published literature that is integrating both of them is not sufficient. The purpose of this article is to explore the relationship between OSA and epigenetics and to offer better diagnostic methods and treatment options. Epigenetic modifications mainly manifest as post-translational modifications in DNA and histone proteins and regulation of non-coding RNAs. Chronic intermittent hypoxia-mediated epigenetic alterations are involved in the progression of OSA and diverse multiorgan injuries, including cardiovascular disease, metabolic disorders, pulmonary hypertension, neural dysfunction, and even tumors. This article provides deeper insights into the disease mechanism of OSA and potential applications of targeted diagnosis, treatment, and prognosis in OSA complications.

OBJECTIVES: Pulmonary Langerhans cell histiocytosis (PLCH) is a clonal disease, characterized by proliferation of Langerhans cells that derived from bone marrow infiltrating the lungs and other organs. Due to the rarity of the disease, the current understanding of the disease is insufficient, often misdiagnosed or missed diagnosis. This study aims to raise clinicians' awareness for this disease via summarizing the clinical characteristics, imaging features, and treatment of PLCH. METHODS: We retrospectively analyzed clinical and follow-up data of 15 hospitalized cases of PLCH from September 2012 to June 2021 in the Second Xiangya Hospital of Central South University. RESULTS: The age of 15 patients (9 men and 6 women, with a sex ratio of 3 to 2) was 21-52 (median 33) years. Among them, 8 had a history of smoking and 5 suffered spontaneous pneumothorax during disease course. There were 3 patients with single system PLCH and 12 patients with multi-system PLCH, including 7 patients with pituitary involvement, 7 patients with lymph node involvement, 6 patients with bone involvement, 5 patients with liver involvement, 2 patients with skin involvement, 2 patients with thyroid involvement, and 1 patients with thymus involvement. The clinical manifestations were varied but non-specific. Respiratory symptoms mainly included dry cough, sputum expectoration, chest pain, etc. Constitutional symptoms included fever and weight loss. Patients with multi-system involvement experienced symptoms such as polyuria-polydipsia, bone pain, and skin rash. All patients were confirmed by pathology, including 6 by lung biopsy, 3 by bone biopsy, 2 by lymph node biopsy, and 4 by liver, skin, suprasternal fossa tumor, or pituitary stalk biopsy. The most common CT findings from this cohort of patients were nodules and/or cysts and nodular and cystic shadows were found in 7 patients. Three patients presented simple multiple cystic shadows, 3 patients presented multiple nodules, and 2 patients presented with single nodules and mass shadows. Pulmonary function tests were performed in 4 patients, ventilation dysfunction was showed in 2 patients at the first visit. Pulmonary diffusion function tests were performed in 4 patients and showed a decrease in 3 patients. Smoking cessation was recommended to PLCH patients with smoking history. Ten patients received chemotherapy while 2 patients received oral glucocorticoid therapy. Among the 11 patients with the long-term follow-up, 9 were in stable condition. CONCLUSIONS PLCH is a neoplastic disease closely related to smoking. The clinical manifestations and laboratory examination are not specific. Pneumothorax could be the first symptom which is very suggestive of the disease. Definitive diagnosis relies on histology. There is no unified treatment plan for PLCH, and individualized treatment should be carried out according to organ involvement. Early smoking cessation is essential. Chemotherapy is the main treatment for rapidly progressing PLCH involved multiple organs. All diagnosed patients can be considered for the detection of BRAF^V600E gene and relevant targeted therapies have been implemented recently.
Adult ; Cysts ; Female ; Histiocytosis, Langerhans-Cell/therapy* ; Humans ; Lung/pathology* ; Male ; Retrospective Studies ; Smoking/adverse effects* ; Smoking Cessation

OBJECTIVES: Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic vasculitis, which often starts with respiratory symptoms such as asthma, and it is difficult to make early clinical diagnosis.This study aims to improve the therapeutic level of EGPA with lung involvement via analyzing the clinical characteristics, diagnosis, and treatment . METHODS: We retrospectively analyzed the clinical data of 13 EGPA patients with lung involvement who were diagnosed from February 1, 2014 to July 31, 2021 in the Second Xiangya Hospital, Central South University. RESULTS: The ratio of male to female in 13 patients was 7꞉6. The patients were diagnosed at median age 52 (46-68) years old and 6 had been diagnosed as "bronchial asthma". Pulmonary clinical manifestations mainly included cough, expectoration, wheezing, and shortness of breath; while extra-pulmonary manifestations mainly included rash and subcutaneous mass, fever, limb numbness, muscle and joint pain, abdominal pain, etc. Peripheral blood tests of all patients showed that 11 patients had eosinophils ≥10%, 10 had elevated inflammatory indicators, and 3 were anti-neutrophil cytoplasmic antibody (ANCA) positive. The major lung imaging features were patches or strips of increased density, multiple nodules, bronchiectasis, bronchial wall thickening, exudation, mediastinal lymph nodes, and so on. Eight patients had sinusitis and 9 with abnormal electromyography. Extravascular eosinophil infiltration was found in 9 patients. Six patients with lung biopsy showed eosinophil, lymphocyte, and plasma cell infiltration, 3 patients were involved in small blood vessels, and 1 had granuloma. Pulmonary function tests were performed in 7 patients, 5 of them showed different degrees of pulmonary ventilation dysfunction, and 4 of them had diffusion dysfunction. Almost all patients respond well to glucocorticoid and immunosuppressant. CONCLUSIONS EGPA is rare in clinical, often involving multiple systems with great harm and may combine with asthmatic manifestations. Pulmonary involvement is relatively common. However, due to insufficient recognition of this disease and huge heterogeneity of pulmonary imaging manifestations, misdiagnosis and missed diagnosis are easy to occur. Relevant laboratory, imaging, and biopsy examination should be performed as early as possible with comprehensive consideration of extrapulmonary involvement. Early identification has great significance to improve the diagnosis rate and prognosis of diseases.
Humans ; Male ; Female ; Middle Aged ; Aged ; Churg-Strauss Syndrome/pathology* ; Granulomatosis with Polyangiitis/pathology* ; Retrospective Studies ; Lung/pathology* ; Asthma

OBJECTIVES: Pulmonary alveolar proteinosis (PAP) is a rare disease with non-specific and various clinical manifestations, often leading to misdiagnosis. This study aims to raise the awareness of this disease via summarizing the clinical characteristics, diagnosis, and therapy of PAP. METHODS: We retrospectively analyzed clinical data of 25 hospitalized cases of PAP during 2008 and 2019 in the Department of Respiratory and Critical Care Medicine of the Second Xiangya Hospital of Central South University. RESULTS: Cough with unkown reason and dyspnea were common clinical manifastations of PAP. Five patients had a history of occupational inhalational exposure. Sixteen patients had typical image features including ground-glass opacification of alveolar spaces and thickening of the interlobular and intralobular septa, in typical shapes called crazy-paving and geographic pattern. Fourteen patients underwent pulmonary function tests, revealing a reduction in the diffusing capacity for carbon monoxide. The positive rate of transbronchial biopsy was 95%. Five patients received the whole lung lavage and the symptoms and imaging fcauters significantly relieved after five-years follow-up. CONCLUSIONS PAP is characterized by radiographic pattern and pathology. Transbronchial lung biopsy is effective to make diagnosis of PAP. The whole lung lavage remains a efficient therapy.
Biopsy ; Bronchoalveolar Lavage ; Cough ; Dyspnea ; Humans ; Pulmonary Alveolar Proteinosis/therapy* ; Retrospective Studies

A patient with thymoma associated immunodeficiency syndrome (Good's syndrome) and bronchiectasis was retrospectively analyzed. Good's syndrome is a rare condition of immunodeficiency that is characterized by thymoma and hypogammaglobulinemia. It is important to bear in mind that Good's syndrome should be included in the differential diagnosis When patients repeatedly visited for bronchiectasis or infection, we should alert to their immune state and history of thymoma. Early screening of immunological status and aggressive correction of immune deficiency are beneficial to improving the prognosis to patients with Good's syndrome.
Agammaglobulinemia/complications* ; Bronchiectasis/complications* ; Humans ; Retrospective Studies ; Thymoma/complications* ; Thymus Neoplasms/complications*

Langerhans cell histiocytosis (LCH) is a rare and unexplained disease that can involve in any organ or system in the body and displays a variety of clinical manifestations. A 31-year-old man, who had a more than 10-year smoke history, initially presented dry cough, polydipsia and diuresis, with recurrent spontaneous pneumothorax. Pulmonary high-resolution computed tomography showed diffuse cystic and nodular lesions. Langerhans cell histiocytosis was confirmed by a transbronchial cryobiopsy. The disease is involved in the lung, pituitary, thyroid, liver, lymph node, and skin. Glucocorticoid or systemic chemotherapy is commonly used in the treatment for this disease. BRAF gene mutation inhibitor is a new direction for the treatment.
Adult ; Histiocytosis, Langerhans-Cell ; Humans ; Lung ; Male ; Skin ; Thyroid Gland ; Tomography, X-Ray Computed

Obstructive sleep apnea is often accompanied by functional changes in attention, alertness, long-term vision and language memory, visual space/structural competence, and executive function due to long-term intermittent hypoxia, high blood carbonate, and sleep structure disorders. In recent years, some scholars have found that the changes of brain structure, metabolism and function revealed by static functional magnetic resonance imaging (MRI) are closely related to the changes of cognitive function reflected in the cognitive function evaluation scale. In recent years, static functional magnetic resonance, especially voxel-based morphometry, diffusion tensor imaging, magnetic resonance spectroscopy and functional magnetic resonance imaging have confirmed significant changes in brain structure, metabolism and function in OSA patients, and the changes are closely related to the changes of cognitive function reflected in the cognitive function evaluation scale. It is great significance to study the mechanism of cognitive function change in OSA patients, and helpful to the early diagnosis and treatment as well as the evaluation of clinical efficacy.
Cognition ; Cognition Disorders ; Diffusion Tensor Imaging ; Humans ; Magnetic Resonance Spectroscopy ; Sleep Apnea, Obstructive ; diagnostic imaging

Objective:To investigate the clinical characteristics of a patient with motor neuron disease,which caused sleep-disordered breathing (SDB) and alveolar hypoventilation syndrome,and to improve the diagnosis rate for this disease.Methods:Retrospectively analyze the diagnosis and treatment process for a 52 year-old male patient,who was accepted by the Second Xiangya Hospital,Central South University because of dyspnea,shortness of breath and malaise for 4 months,and eventually was diagnosed as motor neuron disease associated with obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome.In addition,we searched CNKI,Wanfang and PubMed databases to review relevant literature with keywords (motor neuron disease or amyotrophic lateral sclerosis or progressive bulbar palsy or progressive muscular atrophy or primary lateral sclerosis) AND (sleep apnea or sleep disordered breathing) from January 1990 to May 2017.Results:The major clinical manifestation of motor neuron disease induded impaired upper and lower motor neuron displayed with proximal musde weakness,musde tremor,amyotrophy,bulbar symptoms and pyramidal sign.It was a chronic,progressive disease with worse prognosis,low survival and difficult in diagnosis.Electroneuromyography was a vital way for diagnosis.Furthermore,sleep disordered breathing was common in patients with motor neuron disease,which was featured as decreased rapid eye movement sleep,increased awaking time,apnea and hypopnea.The main mechanism for sleep disordered breathing in motor neuron disease might be due to the disturbed central nervous system and paralysis of diaphragm and respiratory muscle.Moreover,the patient suffered from restrictive ventilatory dysfunction,alveolar hypoventilation and subsequent partial pressure of carbon dioxide and hypoxernia.Therefore,respiratory failure was the most frequent cause of death for patients with motor neuron disease.Non-invasive positive pressure ventilation was suggested to apply to such patients,whose forced vital capability was less than 75 percent of predicted value.Conclusion:Sleep disordered breathing is common in patients with motor neuron disease.Hence,polysomnography is suggested as a routine examination to confirm the potential complications and give timely therapy.Treatment with non-invasive positive pressure ventilation is important for patients to improve life qualit,survival rate and prognosis.