Turner syndrome (TS), also known as Congenital ovarian hypoplasia syndrome, occurs when the X chromosome is partially or completely missing in females. Its main clinical manifestations include growth disorders, reproductive system abnormalities, cardiovascular abnormalities, and autoimmune diseases. TS is highly prevalent in China. Timely diagnosis is crucial, and non-invasive prenatal DNA testing can identify TS and other diseases. Treatment of TS mainly involves administration of growth hormone combined with very low doses of estrogen to increase the patient's height. This article describes the incidence, complications, diagnosis, and treatment of TS.

Abstract:We report the neuropathological findings in a patient with Parkinson's disease (PD) associated with Basque R1441G-LRRK2/dardarin mutation. The patient was a man with disease onset at 68 years of age, with unilateral rest tremor; the Parkinsonism was well controlled with medication for 15 years. He died at the age of 86, after 18 years of evolution. The neuropathological examination disclosed mild neuronal loss in the substantia nigra pars compacta without a-synuclein, tau, LRRK2, or ubiquitin cytoplasmic inclusions. Lewy bodies and Lewy neurites were absent. This is the first neuropathological study of PD associated with brain with the R1441G mutation in LRRK2. Movement Disorder SocietyKey words: Parkinson's disease; LRRK2; dardarin; neuropathology Pathogenic mutations in the leucine-rich repeated kinase 2 (LRRK2-PARK 8) gene have been identified as the most common currently known cause of familial autosomal dominant Parkinson's disease (PD). 1,2 Patients with PD associated with the LRRK2 mutations have a clinical phenotype similar to other patients with PD without detected mutations. The R1441G-LRRK2/ dardarin mutation is frequent in the Basque country, representing 16% of the familial and 4% of apparently sporadic PD cases. 3 Patients with this mutation belonging to the same family have rather homogenous symptoms and clinical course, but differences are seen between patients with this mutation in different families.The neuropathological changes in patients with PD associated with LRRK2 mutations seem to be heterogeneous. 1 In some cases, the presence of neuronal loss in the substantia nigra (SN) and a-synuclein-positive Lewy bodies (LBs) is consistent with classic PD. In other cases, the neuropathological study shows the presence of nonspecific neuronal loss with ubiquitinreactive cytoplasmic and nuclear inclusions, tau pathology reminiscent of progressive supranuclear palsy, or pure nigral degeneration without specific a-synuclein, tau, or ubiquitin inclusions. 1 We report here a patient with the R1441G-LRRK2/ dardarin mutation with neurological symptoms consistent with classic PD. The neuropathological examination disclosed nonspecific nigral degeneration in the SN without a-synuclein, tau, LRRK2, or ubiquitin inclusions. CASE REPORTA 69-year-old man presented with a 1-year history of rest tremor in his right hand. Two years before, he had an angina episode and since then had been taking 100 mg aspirin daily. Although his family history for PD was negative, the sister of the patient explained that their mother, of Basque origin (Durango-Bizcay), had suffered from upper limb tremor and clumsiness at an older age. The mother did not know their origin because she had been brought up in an orphanage. The father of the patient was of Castilian origin. The patient had no children and had one sister and one Vol. 24, No. 13, 2009, pp. 1998-2019 2009 Movement Disorder Society brother without neurological symptoms at the age of 83 and 73 years, respectively, and so they were not tested for the mutation...

IntroductionDermal vascular smooth muscle cells (DVSMCs) are important for vascular wall fibrosis in microangiopathy of systemic sclerosis (SSc). T helper 17 cell-associated cytokines, particularly interleukin-17A (IL-17A), have been demonstrated to play a role in the pathogenesis of SSc. However, the effect of IL-17A on the DVSMCs in microangiopathy of SSc has not been established. In the present study, we investigated the effect of IL-17A on the SSc patient-derived DVSMCs.MethodsDVSMCs from patients with SSc and healthy subjects were incubated using IL-17A or serum derived from patients with SSc. Subsequently, the proliferation, collagen synthesis and secretion, and migration of DVSMCs were analysed using a cell counting kit-8 (CCK-8), dual-luciferase reporter assay, real-time reverse transcription-polymerase chain reaction (RT-PCR), Western blot, enzyme-linked immunosorbent assay (ELISA) and transwell assay. The protein phosphorylation of signalling pathways in the process of IL-17A-mediated DVSMC activation was investigated and validated by specific signalling pathway inhibitor.ResultsIL-17A and serum from patients with SSc could promote the proliferation, collagen synthesis and secretion, and migration of DVSMCs. IL-17A neutralising antibody could inhibit the IL-17A-induced activation of DVSMCs. Additionally, IL-17A induced the activation of extracellular-regulated protein kinases 1/2 (ERK1/2) in DVSMCs, and ERK1/2 inhibitor could block the IL-17A-elicited activation of DVSMCs.ConclusionsOur results suggested that IL-17A derived from patients with SSc might induce the proliferation, collagen synthesis and secretion, and migration of DVSMCs via ERK1/2 signalling pathway, raising the likelihood that IL-17A and ERK1/2 might be promising therapeutic targets for the treatment of SSc-related vasculopathy.Electronic supplementary materialThe online version of this article (doi:10.1186/s13075-014-0512-2) contains supplementary material, which is available to authorized users.

The growth of large single crystals of YBCO is a matter of significant importance in the study of superconductivity by neutron scattering experiments. For this reason, a well c-axis-oriented YBCO crystal with a size of 34 mm in diameter was successfully fabricated by modified melt-growth. First, our findings show that the thermal stability of the film-seed could be enhanced by introducing an intermediate mini-pellet between film and bulk. Furthermore, we present evidence to prove that the serious liquid loss could be suppressed by the CeO2 addition. Finally, the interesting question we addressed is the nature of the formation of distinctive growing macrostructures, such as ambiguous growth facet lines, and the corner-concaved a–b plane. Most importantly, apart from YBCO, our new approach strongly suggests the possibility of synthesizing large crystals for more attractive members in its family, i.e., chemically doped YBCO materials, being unsuccessful by the prior art crystal growth methods.