[PDF] Top 20 Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

... BHD patients, except for 1 with hamartomas and 4 with renal cysts ...5). Patients enrolled in this study were mostly from a respiratory clinic, which could explain the low renal cell carcinoma ...of ... See full document

... Variants in the crystallin genes were the most frequent mutations found in this study, with nine patients pre- senting likely causative variants in crystallin genes, six in familial cases, and three in sporadic ... See full document

... the Chinese population, multicenter studies with large samples may help to clearly identify the characteristics of CTX in the ...Second, genetic background may be one of the major reasons for the ... See full document

... the Chinese CFTR variant spectrum, though not yet well-established, only four CF alleles with gross rearrangement events were observed, including one allele with △ E7-E11 ...CF patients enrolled in their ... See full document

... uncomplicated VATS procedure was performed. Although the thoracic CT showed multiple cysts mainly in the basal parts of the right lung, none were seen at operation. Total pleurectomy was performed. Two years later the ... See full document

... In the initial gene expression analysis the BHDS- derived tumors formed a distinct branch in the cluster- ing diagram (Figures 1A, B). These gene expression differences were not due to a sample batch effect since these ... See full document

... Our case report described a novel mutation in FLCN, and a new manifestation of PIT in lung lesions of BHD. Previous studies showed that FLCN serves as a tumor suppressor gene. The germline mutations in FLCN are related ... See full document

... four Chinese WFS patients and descried their ophthalmologic characteristics, as well as reported three novel WFS1 and CISD2 ...Most patients presented at least three clinical manifesta- ... See full document

... 33 patients, four had metastatic RCC, either at the time of diagnosis or ...and clinical progression has justified treatment with suni- tinib, axitinib, everolimus, bevacizumab and ...or clinical ... See full document

... on clinical manifestations and the outcome of DNA testing (4). Patients should fulfill one major or two minor criteria for diagnosis where the major criteria were as follows: 1- at least five ... See full document

... The diagnosis of BHDS was established according to the diagnostic criteria of the European BHD consortium [14], and genetic testing of FLCN was performed by a previously described method [15]. The following types ... See full document

... gene syndrome and its clinical similarities to that of BHD sug- gest that the FLCN and TSC proteins may function in a common cellular pathway ...in patients with TSC are linked to aberrant mTOR ... See full document

... predispose patients to different disease manifestations ...initial clinical presentations, surgical interventions and cancers experienced by PJS patients [15, ...confirmation. Genetic ... See full document

... main clinical manifestations of LAM [1–4, ...of patients) and the result of airflow obstruction and cystic destruction of the lung ...of patients have a history of pneumothorax in their ... See full document

... UFS patients from ...12 patients with lagophthal- mos, 6 was normal by ocular exam, while cor- neal staining and punctate keratopathy were characterized in the rest 6 patients ... See full document

... in patients with shoulder pain. However, in this study, patients with a PS labral tear were diagnosed with MRI and/ or arthrosonography, which were thus proved to be useful in the diagnosis of PS labral ... See full document

... younger patients, resulting in a higher incidence of patients with PD in the lower age ...younger patients (P = ...younger patients has already been confirmed in the studies by other ... See full document

... The conclusion must also be drawn that the cohort analyzed showed a very active, as well as incapacitating, disease, given that nearly 50% of the patients presented DAS-28 levels, which indicated activity between ... See full document

... 6 patients had abnormal proportion of T lymphocytes in BALF, which suggested the activity of lung impairment in these ...in patients of SS group. In addition, patients with increased ESR and CRP were ... See full document

... all patients with PMR were over 50 years (Table ...in patients with PMR before the treat- ment (Table ...ameliorate patients’ symptoms and serum CRP levels (Table ... See full document