Parkinson’s disease is the second most common neurodegenerative disorder without effective treatment. It is generally sporadic with unknown etiology. However, genetic studies of rare familial forms have led to the identification of mutations in several genes, which are linked to typical Parkinson’s disease or parkinsonian disorders. The pathogenesis of Parkinson’s disease remain largely elusive. Here, we report a novel genetic locus for an autosomal dominant, clinically typical and Lewy body confirmed Parkinson’s disease on the short arm of chromosome 20 (20pter-p12) and TMEM230 as the disease-causing gene. We show that TMEM230 encodes a transmembrane protein of secretory/recycling vesicles, including synaptic vesicles in neurons. The disease-linked TMEM230 mutants impair synaptic vesicle trafficking. Our data provide the first genetic evidence that a mutant transmembrane protein of synaptic vesicles in neurons is etiologically linked to Parkinson’s disease, with novel implications in understanding the pathogenic mechanism of Parkinson’s disease and for developing rational therapies.

Humans and other vertebrates exhibit left-right (LR) asymmetric arrangement of the internal organs, and failure to establish normal LR asymmetry leads to internal laterality disorders, including situs inversus and heterotaxy. Situs inversus is complete mirror-imaged arrangement of the internal organs along LR axis, whereas heterotaxy is abnormal arrangement of the internal thoraco-abdominal organs across LR axis of the body, most of which are associated with complex cardiovascular malformations. Both disorders are genetically heterogeneous with reduced penetrance, presumably because of monogenic, polygenic or multifactorial causes. Research in genetics of LR asymmetry disorders has been extremely prolific over the past 17 years, and a series of loci and disease genes involved in situs inversus and heterotaxy have been described. The review highlights the classification, chromosomal abnormalities, pathogenic genes and the possible mechanism of human LR asymmetry disorders.

ObjectiveTo compare prospective ECG-gated multi-slice computed tomography (MSCT) and trans-thoracic echocardiography (TTE) in the diagnosis of complex congenital heart disease (CHD).MethodsThis was a prospective study of consecutive patients with complex CHD (age <7 years) treated at a tertiary hospital between May 2013 and May 2015. All patients were imaged with TTE and prospective ECG-gated 128-slice spiral CT in the week before surgery. Effective radiation dose (ED) was calculated from volume CT dose index (CTDIvol) and dose length product (DLP). Image quality (5-point scale) was assessed independently by two radiologists. Using surgical findings as the reference, the diagnostic capabilities of MSCT and TTE were compared.ResultsThirty-five patients (19 males) aged 1.59±1.58 years (range, 3 days to 74 months) were included. CTDIvol, DLP and ED were 0.90±0.24 mGy, 12.9±4.7 mGy∙cm and 0.64±0.21 mSv (range, 0.358–1.196 mSv), respectively. Image quality score was 4.3±0.5, and all images met the diagnostic requirements. The sensitivity, specificity, positive predictive value, and negative predictive value for diagnosing CHD were 97.2%, 99.8%, 99.0%, and 99.5%, respectively, for MSCT, and 90.6%, 99.8%, 99.0%, and 98.4%, respectively, for TTE. MSCT not only had a higher sensitivity than TTE overall (97.2% vs. 90.6%; P<0.05), but was much more sensitive for the diagnosis of extracardiac vascular abnormalities (92.0% vs. 68.0%; P<0.05).Conclusion128-slice low-dose prospective ECG-gated CT scanning has important clinical value in the diagnosis of complex CHD in children, complementing and extending the findings of TTE.

Major depressive disorder (MDD) is one of the most serious diseases and now becomes a major public health problem in the world. The pathogenesis of depression remains poorly understood. Fibroblast growth factors (FGFs) belong to a large family of growth factors that are involved in brain development during early periods as well as maintenance and repair throughout adulthood. In recent years, studies have found a correlation between the members of the FGF system and depression. These signaling molecules may be expected to be biomarkers for the diagnosis and prognosis of MDD, and may provide new drug targets for the treatment of depression. Here, we reviewed the correlation between some members of the FGF system and depression.