Acid α-glucosidase (GAA) is the sole lysosomal enzyme responsible for degrading glycogen into glucose monomers. Deficiency of GAA leads to progressive lysosomal glycogen accumulation and cellular dysfunction, resulting in Pompe disease (PD), an autosomal recessive disorder. This case report described a 41-year-old woman who presented with progressive dyspnea and decreased exercise tolerance. The preliminary examination in the outpatient clinic showed that the patient suffered from pulmonary hypertension (PH). After the patient was admitted to the hospital and further relevant auxiliary examinations were completed, and finally a diagnosis of late-onset Pompe disease (LOPD) was confirmed. Protein structure prediction suggested that the double mutation might disrupt the hydrogen bond network, hydrophobic core, and aromatic interactions of the GAA enzyme, potentially reducing the stability of the protein (ΔΔG = -2.55 kcal/mol). Although these computational insights provide a theoretical basis for the clinical phenotype, they require further validation. This is a rare case of PD complicated with PH in the absence of childhood symptoms, suggesting that specific missense mutations may contribute to late-onset and milder phenotypes. This case underscores that clinicians should strengthen clinical discrimination when diagnosing respiratory failure and PH. Understanding the characteristics of infantile-onset Pompe disease (IOPD)-relatively mild enzymatic activity impairment and late onset-helps in the clinical management of genetic metabolic.

A 65-year-old male presented to the emergency department with acute dyspnea and critically low oxygen saturation (77%), which led to the discovery of an unusual pulmonary arteriovenous malformation (PAVM). Computed tomographic pulmonary angiography revealed a 2.5-cm vascular lesion connecting the right inferior pulmonary artery to the left cardiac atrium, resulting in significant right-to-left shunting. The patient's respiratory symptoms resolved completely after video-assisted thoracoscopic surgical resection, demonstrating the value of comprehensive imaging in diagnosing rare vascular anomalies. This case highlights the clinical significance of unexpected vascular malformations in older adults.

A retrospective analysis was conducted of the clinical data of 22 patients with refractory bronchopleural fistula admitted to the Department of Respiratory and Critical Care Medicine, Emergency General Hospital, from January 2024 to January 2025.All patients underwent bronchoscopic airway stent placement combined with petroleum jelly gauze packing. Of these, 18 cases (81.8%) had central-type fistulas (mean diameter:5.22±1.96 mm), and 4 cases (18.2%) had peripheral-type fistulas (mean diameter:1.38±0.75 mm).Twenty patients had a single fistula, and two had multiple fistulas; 14 patients (63.6%) had concomitant empyema. Dyspnea and Karnofsky Performance Status (KPS) scores were compared before and after treatment, and time to residual cavity closure, time to chest tube removal, and complications were recorded. During 6 to 12-month follow-up, 20 patients achieved residual cavity closure, with a median closure time of 2.5 months; the median time to chest tube removal was 3 months. Both dyspnea and KPS scores showed improved significantly compared to pre-treatment values. Treatment failed in two patients::one was converted to open-window drainage, and one died of an unrelated illness 9 months postoperatively. One patient developed severe granulation tissue hyperplasia postoperatively, which improved after stent removal. These preliminary findings suggest that bronchoscopic airway stent placement combined with Vaseline gauze packing is an effective and safe minimally invasive interventional treatment for refractory bronchopleural fistula.

Uterine leiomyomas are common benign smooth muscle tumors typically confined to the uterus and hormonally responsive to estrogen and progesterone, typically regressing after menopause. Rarely, they demonstrate metastatic behavior despite benign histology, a condition known as benign metastasizing leiomyoma (BML). BML is exceedingly rare and can mimic malignancy, posing diagnostic challenges. We report a rare case of a 53-year-old woman with a history of hysterectomy for leiomyomas who presented with dyspnea and chest pain. Imaging revealed numerous bilateral pulmonary nodules, later confirmed to be smooth muscle tumors. After being lost to follow-up, she returned 2 years later with new breast and forearm masses. Imaging and biopsy confirmed metastatic smooth muscle tumors consistent with BML. Breast lesions mimicked benign cysts on ultrasound, underscoring the importance of clinical and histological correlation. The patient responded well to treatment with symptom improvement. This case highlights the rare phenomenon of BML metastasizing to multiple extrauterine sites, including the breast and soft tissues, locations infrequently reported. Imaging findings, particularly in the breast, can mimic benign lesions such as simple cysts, underscoring the need for biopsy and correlation with clinical history. BML should be considered in women with a history of uterine fibroids and indolent-appearing metastases without fludeoxyglucose uptake on positron emission tomography, computed tomography, and cystic appearance on ultrasound of breast lesions. Early recognition is crucial to avoid misclassification as malignancy and to guide effective hormonal treatment.

Diaphragmatic eventration is a condition characterized by the abnormal elevation of a hemidiaphragm, resulting in significant respiratory symptoms such as dyspnea, exercise intolerance, and impaired ventilation, due to a mass effect by raised abdominal organs and to the inability of the diaphragm to promote adequate expansion of the chest and subsequent poor ventilation and impaired gas exchange. In symptomatic patients, diaphragmatic plication is a well-established surgical treatment aimed at improving respiratory function by reducing dysfunctional diaphragm excursion and promoting greater lung expansion. This study investigates the use of robot-assisted thoracic surgery (RATS) for diaphragmatic plication and application of absorbable mesh to reduce the risk and prevent recurrence of diaphragm re-elevation. The procedure is performed via a transthoracic approach using the Da Vinci Surgical System, which provides enhanced precision, meticulous tissue handling and accurate suture placement, allowing difficult maneuvers such as mesh placement and probably with improved early and long-term outcomes. The addition of a Vicryl mesh further supports the diaphragm and helps reduce the risk of postoperative complications such as recurrence of diaphragm elevation. This robot-assisted approach has been shown to reduce postoperative pain, shorten hospital stays, and significantly enhance patient quality of life by addressing symptoms like dyspnea and fatigue. This study highlights the safety, efficacy, and minimal invasiveness of robot-assisted diaphragmatic plication as a treatment option for diaphragmatic dysfunction.