BackgroundBirt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for BHD syndrome is the folliculin (FLCN) gene on chromosome 17p11.2. Studies of the FLCN mutation for BHD syndrome are less prevalent in Chinese populations than in Caucasian populations. Our study aims to investigate the genotype spectrum in a group of Chinese patients with BHD.MethodsWe enrolled 51 patients with symptoms highly suggestive of BHD from January 2014 to February 2017. The FLCN gene was examined using PCR and Sanger sequencing in every patient, for those whose Sanger sequencing showed negative mutation results, multiplex ligation-dependent probe amplification (MLPA) testing was conducted to detect any losses of large segments.Main resultsAmong the 51 patients, 27 had FLCN germline mutations. In total, 20 mutations were identified: 14 were novel mutations, including 3 splice acceptor site mutations, 2 different deletions, 6 nonsense mutations, 1 missense mutation, 1 small insertion, and 1 deletion of the whole exon 8.ConclusionsWe found a similar genotype spectrum but different mutant loci in Chinese patients with BHD compared with European and American patients, thus providing stronger evidence for the clinical molecular diagnosis of BHD in China. It suggests that mutation analysis of the FLCN gene should be systematically conducted in patients with cystic lung diseases.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0656-7) contains supplementary material, which is available to authorized users.

AimsTo investigate the efficacy of a bi-modality deep convolutional neural network (DCNN) framework to categorise age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) from colour fundus images and optical coherence tomography (OCT) images.MethodsA retrospective cross-sectional study was proposed of patients with AMD or PCV who came to Peking Union Medical College Hospital. Diagnoses of all patients were confirmed by two retinal experts based on diagnostic gold standard for AMD and PCV. Patients with concurrent retinal vascular diseases were excluded. Colour fundus images and spectral domain OCT images were taken from dilated eyes of patients and healthy controls, and anonymised. All images were pre-labelled into normal, dry or wet AMD or PCV. ResNet-50 models were used as the backbone and alternate machine learning models including random forest classifiers were constructed for further comparison. For human-machine comparison, the same testing data set was diagnosed by three retinal experts independently. All images from the same participant were presented only within a single partition subset.ResultsOn a test set of 143 fundus and OCT image pairs from 80 eyes (20 eyes per-group), the bi-modal DCNN demonstrated the best performance, with accuracy 87.4%, sensitivity 88.8% and specificity 95.6%, and a perfect agreement with diagnostic gold standard (Cohen’s κ 0.828), exceeds slightly over the best expert (Human1, Cohen’s κ 0.810). For recognising PCV, the model outperformed the best expert as well.ConclusionA bi-modal DCNN for automated classification of AMD and PCV is accurate and promising in the realm of public health.

This paper studies automated categorization of age-related macular degeneration (AMD) given a multi-modal input, which consists of a color fundus image and an optical coherence tomography (OCT) image from a specific eye. Previous work uses a traditional method, comprised of feature extraction and classifier training that cannot be optimized jointly. By contrast, we propose a two-stream convolutional neural network (CNN) that is end-to-end. The CNN's fusion layer is tailored to the need of fusing information from the fundus and OCT streams. For generating more multi-modal training instances, we introduce Loose Pair training, where a fundus image and an OCT image are paired based on class labels rather than eyes. Moreover, for a visual interpretation of how the individual modalities make contributions, we extend the class activation mapping technique to the multi-modal scenario. Experiments on a real-world dataset collected from an outpatient clinic justify the viability of our proposal for multi-modal AMD categorization.

Background and objective The purpose of this study was to create a practical CT-based algorithm to differentiate Birt-Hogg-Dubé (BHD) syndrome from other diffuse cystic lung diseases (DCLD). Methods The study was a retrospective review of the CT images of 33 patients with BHD syndrome, 33 patients with LAM, and 23 patients with NBNL (non-BHD and non-LAM) among DCLD patients. On the basis of the data collected, the CT images were reviewed again to evaluate the characteristics (size, number, distribution, and morphology) of pulmonary cysts. Results Lower lung-predominant cysts were more likely to be found in patients with BHD syndrome than in patients with LAM or in the NBNL DCLD group. In the axial distribution, 18 of 33 patients in BHD group had cysts that were predominantly near the mediastinum, and all the patients in the LAM and NBNL DCLD groups had diffuse cysts. The appearance of fusiform cysts was more easily observed in patients in the BHD group. In total, 58% patients in the BHD group had less than 50 lung cysts, while all patients in the non-BHD group had more than 50 lung cysts. The biggest cyst was located in the lower lobe in 28 of 33 patients in the BHD group, while 11 of 33 patients in LAM group and 10 patients in the NBNL DCLD group had the biggest cyst in the lower lobe. Conclusion The pulmonary cysts in patients with BHD tended to be fusiform, less numerous and located predominantly in the lower lobe and near the mediastinum. These radiologic pulmonary features could assist physicians in differentiating BHD from other DCLDs.

BackgroundLeakage from the pancreatic stump is a leading cause of morbidity following pancreatic surgery. It is essential to evaluate the effect of somatostatin analogues (SAs) following pancreatic surgery by analyzing all recent clinical trials.Data sourcesWe performed a literature search in the Medline, EMBASE, Cochrane Central Register of Controlled Trials and Web of Science databases up to May 29, 2016. Publication bias was assessed with Egger’s test. Study quality was assessed using the Jadad Composite Scale.ConclusionsTwelve clinical trials involving 1703 patients from Jan 1st, 2000 to May 29th, 2016 were included in the study. With improvements in surgical management and peri-operative patient care, prophylactic use of somatostatin and its analogues reduced the overall incidence of pancreatic fistulas (RR 0.72, 95% CI 0.55–0.94; p = 0.02) and decreased the post-operative hospital stay after pancreatic surgery (the weighted mean difference was -1.06, 95% CI-1/88 to -0.23; p = 0.01). Other post-operative outcomes did not change significantly with the use of somatostatin analogues.

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BackgroundIn view of the important function of nuclear receptor liver receptor homolog 1 (LRH 1) in various biological processes and the physiological changes accompanying unexplained recurrent spontaneous abortion (USRA), our study was carried out to investigate the potential roles of LRH-1 in USRA.Material/MethodsThirty patients with URSA at early the early state of pregnancy were selected, and 30 patients with normal early pregnancy were also selected from Aug 2015 to Sep 2016 as a control group. The expression of LRH-1 protein in decidua and villi were detected by immunohistochemistry and Western blot analysis, and the expression of LRH-1 mRNA was detected by RT-PCR. The expression levels of CYP19 and P450scc were detected by RT-PCR and Western blot analysis at mRNA and protein levels, respectively.ResultsThe levels of LRH-1, CYP19, and P450scc mRNA and protein in villi of the patients in the URSA group were significantly lower than in the control group. There were no significant differences between the URSA group and control group in the levels of LRH-1, CYP19, and P450scc mRNA and protein in villi in decidua.ConclusionsURSA was related to the reduced expression level of LRH-1 in villous tissues but not in decidua, and expression of LRH-1 may be related to the expression of CYP19 and P450scc. We believe that the expression level of LRH-1 can be used as a marker in the early diagnosis of URSA, and the regulation of LRH-1 expression many lead to new URSA treatments.

We retrospectively analyzed the relationship between normocalcemic parathormone elevation (NPE) and recurrence of primary hyperparathyroidism (pHPT) after surgery, as well as the risk factors of NPE. Out of 309 patients with pHPT that underwent parathyroidectomy. Six months after surgery, 75 patients exhibited NPE with high preoperative serum levels of alkaline phosphatase, calcium and intact parathyroid hormone (iPTH), postoperative day 1 iPTH, and large parathyroid volume. 15 exhibited NPE at 2 years after surgery with low serum vitamin D levels. Postoperative serum iPTH levels gradually normalized in most patients. Multivariate analysis showed that male patients were at greater risk for postoperative NPE (p<0.05). Only 3 of 309 patients showed recurrence during the follow-up period. NPE may not predict recurrent hyperparathyroidism or incomplete parathyroidectomy for benign parathyroid lesions. Postoperative NPE thus appears to be a response to severe hyperparathyroidism and vitamin D deficiency.