Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation

Background: Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that has been reported in different ethnic populations which carry different common mutations of the acid alpha-glucosidase (GAA) gene. The GAA mutation pattern in mainland Chinese patients with late-onset Pompe disease is still not well understood. Methods: We presented the clinical and genetic characteristics of 27 mainland Chinese late-onset Pompe patients from 24 families. Results: GAA mutation analysis revealed 26 different mutations, including 10 that were novel. The allelic frequency of c.2238G > C (p.W746C) was found to be 27.08% in this patient group. Respiratory dysfunction was diagnosed in 10 of 11 patients who underwent pulmonary function evaluation, although only four required ventilator support at night. Conclusions: Our findings indicate that c.2238G > C (p.W746C) is the most common mutation in mainland Chinese late-onset Pompe patients, as observed in Taiwanese patients. The novel mutations identified in this study expand the genetic spectrum of late-onset Pompe disease, and the prevalence of respiratory dysfunction highlights the importance of monitoring pulmonary function in late-onset Pompe patients.Genetics & HereditySCI(E)[email protected]

Preliminary Study of CPET in Patients With Central Airway Obstruction

CPCI-S(ISTP)41116A-1116A15

A Case of Pulmonary Nocardiosis Presenting with Multiple Cavitary Nodules in a Patient with Thrombocytopenia

Nocardiosis is an infrequent opportunistic infection that deserves more attention because of its increasing morbidity and high rate of misdiagnosis. Clinical and radiological manifestations as well as antibiograms of pulmonary nocardiosis are diverse. Herein, we report a patient with idiopathic thrombocytopenia treated with glucocorticoids, which later presented with severe pulmonary infection with widely distributed nodules on chest computed tomography. Fungal infection or tuberculosis was under initial suspicion and microbiological tests of bronchoalveolar lavage fluid eventually yielded an affirmative result of Nocardia cyriacigeorgica. The patient responded in the beginning; however, therapeutic strategies had to be altered several times due to adverse events. The patient eventually ended up with radiographic resolution at the end of six months. We wish to share some experience in dealing with this disease especially recognizing pulmonary nocardiosis in computed tomography imaging.</jats:p

Pneumocystis jirovecii dihydropteroate synthase gene mutations in a group of HIV-negative immunocompromised patients with Pneumocystis pneumonia

The purpose of this study was to investigate dihydropteroate synthase (DHPS) mutations and their clinical context in non-HIV-infected patients with Pneumocystis pneumonia (PCP). DHPS genes in respiratory samples collected from HIV-negative patients with PCP presented between January 2008 and April 2011 were amplified by polymerase chain reaction (PCR) and sequenced. Basic clinical data from the medical records of the patients were also reviewed. The most common point mutations, which result in Thr55Ala and Pro57Ser amino acid Substitutions, were not detected in the Pneumocystis jirovecii sampled from the HIV-negative patients. Two other point mutations, which result in nonsynonymous mutation, Asp90Asn and Glu98Lys, were identified in P. jirovecii from two patients. Among the patients, the levels of lactate dehydrogenase (LDH), C-reactive protein (CRP) and plasma (1-3) beta-D-glucan were elevated in 75, 92.31 and 42.86% of patients, respectively. The percentage of circulating lymphocytes was significantly lower in non-survivors than in survivors [4.2%, interquartile range (IQR) 2.4-5.85 versus 10.1%, IQR 5.65-23.4; P=0.0191. The neutrophil proportion in bronchoalveolar lavage fluid (BALF) was significantly higher in non-survivors than in survivors (49.78 +/- 27.67 versus 21.33 +/- 15.03%; P=0.047). Thirteen patients had received adjunctive corticosteroids (1 mg/kg/day prednisone equivalent) and nine (69.23%) of them eventually experienced treatment failure. No common DHPS gene mutations of P. jirovecii were detected in the HIV-negative PCP patients. However, other mutations did exist, the significance of which remains to be further identified. The elevation of neutrophil counts in BALF and reduction of the number of lymphocytes in peripheral blood may be associated with poor outcome. The efficacy of adjunctive steroid therapy in HIV-negative patients with P. jirovecii infection requires further investigation.Medicine, Research &amp; ExperimentalSCI(E)[email protected]

A Case of Pulmonary Nocardiosis Presenting with Multiple Cavitary Nodules in a Patient with Thrombocytopenia

Nocardiosis is an infrequent opportunistic infection that deserves more attention because of its increasing morbidity and high rate of misdiagnosis. Clinical and radiological manifestations as well as antibiograms of pulmonary nocardiosis are diverse. Herein, we report a patient with idiopathic thrombocytopenia treated with glucocorticoids, which later presented with severe pulmonary infection with widely distributed nodules on chest computed tomography. Fungal infection or tuberculosis was under initial suspicion and microbiological tests of bronchoalveolar lavage fluid eventually yielded an affirmative result of Nocardia cyriacigeorgica. The patient responded in the beginning; however, therapeutic strategies had to be altered several times due to adverse events. The patient eventually ended up with radiographic resolution at the end of six months. We wish to share some experience in dealing with this disease especially recognizing pulmonary nocardiosis in computed tomography imaging

A Case of Pulmonary Nocardiosis Presenting with Multiple Cavitary Nodules in a Patient with Thrombocytopenia

Nocardiosis is an infrequent opportunistic infection that deserves more attention because of its increasing morbidity and high rate of misdiagnosis. Clinical and radiological manifestations as well as antibiograms of pulmonary nocardiosis are diverse. Herein, we report a patient with idiopathic thrombocytopenia treated with glucocorticoids, which later presented with severe pulmonary infection with widely distributed nodules on chest computed tomography. Fungal infection or tuberculosis was under initial suspicion and microbiological tests of bronchoalveolar lavage fluid eventually yielded an affirmative result of Nocardia cyriacigeorgica. The patient responded in the beginning; however, therapeutic strategies had to be altered several times due to adverse events. The patient eventually ended up with radiographic resolution at the end of six months. We wish to share some experience in dealing with this disease especially recognizing pulmonary nocardiosis in computed tomography imaging