Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.

Background: Essential tremor (ET) is an autosomal dominant inheritance disorder. Mutations in fusion sarcoma (FUS), mitochondrial serine peptidase 2 (HTRA2), teneurin transmembrane protein 4 (TENM4), sortilin1 (SORT1), SCN11A, and notch2N-terminal-like (NOTCH2NLC) genes are associated with familial ET.

Methods: A proband with ET was tested using whole-exome sequencing and repeat-primed polymerase chain reaction.

Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency.

Background: Antithrombin (AT) is the main physiological anticoagulant involved in hemostasis. Hereditary AT deficiency is a rare autosomal dominant thrombotic disease mainly caused by mutations in SERPINC1, which was usually manifested as venous thrombosis and pulmonary embolism. In this study, we analyzed the clinical characteristics and screened for mutant genes in two pedigrees with hereditary AT deficiency, and the functional effects of the pathogenic mutations were evaluated.

Eucarbwenstols A-H, eight novel compounds from Eucalyptus robusta prevents MPC-5 injury via ROS modulation and regulation of mitochondrial membrane potential.

Background: The damage of podocytes is a primary hallmark of lupus nephritis (LN). Therefore, finding an effective way to inhibit the podocyte injury is important for improving the survival and development of patients with LN. Eucalyptus robusta exhibits anti-inflammatory properties.

Case report and analysis: Behçet's disease with lower extremity vein thrombosis and pseudoaneurysm.

Background: Behçet's disease (BD) is a unique autoimmune chronic systemic vasculitis that affects veins and arteries of all sizes. BD can lead to recurrent vascular events, especially venous thrombosis, with an incidence rate of 40%, or pseudoaneurysms formed under long-term inflammatory reaction or iatrogenic stimulation. BD-related risk factors promote endothelial dysfunction, platelet activation and overactivation of tissue factors leading to mural inflammatory thrombi.

Splenic Artery Embolization and Splenectomy for Spontaneous Rupture of Splenic Hemangioma and Its Imaging Features.

Background: Spontaneous splenic rupture (SSR) is a rare, often life-threatening, acute abdominal injury that requires immediate diagnosis and early treatment. SSR is mainly treated surgically or conservatively. A few cases of interventional embolization for SSRs have been reported.

A Primary Extraskeletal Osteosarcoma of the Spleen: Rare Case Report.

Extraskeletal osteosarcoma is a rare malignant soft-tissue sarcoma that is difficult to diagnose. Surgery is a common treatment, although chemotherapy and radiotherapy are also used. Patients at risk of bleeding can undergo embolization combined with resection.

Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A.

Background: Brugada syndrome is a hereditary cardiac disease associated with mutations in ion channel genes. The clinical features include ventricular fibrillation, syncope, and sudden cardiac death. A family with Brugada syndrome with sudden cardiac death was analyzed to locate the associated mutation in the gene.

Differences in gut microbiota structure in patients with stages 4-5 chronic kidney disease.

The gut microbiota can affect human metabolism, immunity, and other biologic pathways through the complex gut-kidney axis (GKA), and in turn participate in the occurrence and development of kidney disease. In this study, 39 patients with stage 4-5 chronic kidney disease (CKD) and 40 healthy individuals were recruited and 16S rDNA sequencing was performed to analyze the V3-V4 conserved regions of their microbiota. A total of 795 operational taxonomic units (OTUs) shared between groups or specific to each group were obtained, among which 255 OTUs with significant differences between the two groups were identified (<0.

Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene.

Hereditary distal renal tubular acidosis (dRTA) is a rare disease of H excretion defect of α-intercalated cells in renal collecting duct, caused by decreased V-ATPase function due to mutations in the ATP6V1B1 or ATP6V0A4 genes. In the present study, a genetic family with 5 members of the complete dRTA phenotype were found with distal tubule H secretion disorder, hypokalemia, osteoporosis, and kidney stones. A variant NM_020632.

Unexpected phosphodiesterase activity at low pH of a dinuclear copper-β-cyclodextrin complex.

A surprisingly low pK(a) (4.3) for a Cu(II) bridging water was found in the presented complex, Cu(2)L, resulting in 3 orders of magnitude higher phosphodiesterase activity on BNPP than Zn(2)L at typical lysosomal pH (~5.0).

Effect of hydrophobic interaction cooperating with double Lewis acid activation in a zinc(II) phosphodiesterase mimic.

The novel dinuclear Zn(ii) complex (1) containing a beta-CD dimer could accelerate BNPP (a DNA substitute) hydrolysis more efficiently than catalyze HPNP (a RNA substitute) transesterification with different mechanisms involved; the beta-CDs played remarkably different roles.