[Genetic analysis of a Chinese pedigree affected with Mucopolysaccharidosis type â ¢A].

OBJECTIVE: To explore the clinical and genetic characteristics of a patient with hypertrophic cardiomyopathy as the initial manifestation of Mucopolysaccharidosis type Ⅲ A (MPS Ⅲ A). METHODS: A female patient with MPS Ⅲ A who was admitted to the Affiliated Hospital of Jining Medical University in January 2022 and her family members (seven individuals from three generations) were selected as the study subjects. Clinical data of the proband were collected. Peripheral blood samples of the proband was collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. Heparan-N-sulfatase activity was determined for the disease associated with the variant site. RESULTS: The proband was a 49-year-old woman, for whom cardiac MRI has revealed significant thickening (up to 20 mm) of left ventricular wall and delayed gadolinium enhancement at the apical myocardium. Genetic testing revealed that she has harbored compound heterozygous variants in exon 17 of the SGSH gene, namely c.545G>A (p.Arg182His) and c.703G>A (p.Asp235Asn). Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PM2_Supporting +PM3+PP1Strong+PP3+PP4; PS3+PM1+PM2_Supporting +PM3+PP3+PP4). Sanger sequencing confirmed that her mother was heterozygous for the c.545G>A (p.Arg182His) variant, whilst her father, sisters and her son were heterozygous for the c.703G>A (p.Asp235Asn) variant. Determination of blood leukocyte heparan-N-sulfatase activity suggested that the patient had a low level of 1.6 nmol/(g·h), whilst that of her father, elder and younger sisters and son were all in the normal range. CONCLUSION: The compound heterozygous variants of the SGSH gene probably underlay the MPS ⅢA in this patient, for which hypertrophic cardiomyopathy is an associated phenotype.

Superior mesenteric veinous thrombosis with Bacteroides fragilis infection: a case report / 中国热带医学

@#Abstract: Superior mesenteric veinous thrombosis (SMVT) is a rare complication that often occurs in conjunction with intra-abdominal diseases such as diverticulitis, appendicitis, inflammatory bowel disease, etc. Its clinical symptoms are non-specific and include fevers, abdominal pain; it has no specific symptoms, and the diagnosis depends on clinical laboratory tests and imaging studies. The occurrence of superior mesenteric veinous thrombophlebitis is related to septic phlebitis caused by the sloughing of the embolus containing bacteria into the portal vein with blood flow. Due to the nonspecific clinical features of this disease, diagnosing it based on clinical characteristics and microbiological aspects is a challenge. A case of superior mesenteric veinous septic thrombophlebitis caused by Bacteroides fragilis infection is reported and to provide a reference for the diagnosis and treatment of such diseases. The patient was a 34-year-old man who was admitted the hospital with intermittent abdominal pain and fever. Computed tomography (CT) showed partial thrombosis of the superior mesenteric vein, colonoscopy revealed diverticulitis in the ileoceca, and the blood culture grew Bacteroides fragilis. The patient was treated with anti-infection (ceftazidime 2.0 g q12h intravenous infusion for 11 days; metronidazole 0.5 g, q8h intravenous infusion for 3 days) and anticoagulation (rivaroxaban 20 mg qd orally for 8 days. On the 11th day of hospitalization, the patient's condition improved, and he was discharged. In this case, for patients with fever and abdominal pain, superior mesenteric venous thrombophlebitis should be included in the differential diagnosis. Through auxiliary examination, blood sample culture and other technologies, clear diagnosis should be made in time to improve patient outcomes.

Facile Construction and Fabrication of a Superhydrophobic and Super Oleophilic Stainless Steel Mesh for Separation of Water and Oil.

The fluoride-free fabrication of superhydrophobic materials for the separation of oil/water mixtures has received widespread attention because of frequent offshore oil exploration and chemical leakage. In recent years, oil/water separation materials, based on metal meshes, have drawn much attention, with significant advantages in terms of their high mechanical strength, easy availability, and long durability. However, it is still challenging to prepare superhydrophobic metal meshes with high-separation capacity, low costs, and high recyclability for dealing with oil-water separation. In this work, a superhydrophobic and super oleophilic stainless steel mesh (SSM) was successfully prepared by anchoring Fe2O3 nanoclusters (Fe2O3-NCs) on SSM via the in-situ flame synthesis method and followed by further modification with octadecyltrimethoxysilane (OTS). The as-prepared SSM with Fe2O3-NCs and OTS (OTS@Fe2O3-NCs@SSM) was confirmed by a field emission scanning electron microscope (FESEM), transmission electron microscope (TEM), energy dispersive spectrometer (EDS), X-ray photoelectron spectrometer (XPS), and X-ray diffractometer (XRD). The oil-water separation capacity of the sample was also measured. The results show that the interlaced and dense Fe2O3-NCs, composed of Fe2O3 nanoparticles, were uniformly coated on the surface of the SSM after the immerging-burning process. Additionally, a compact self-assembled OTS layer with low surface energy is coated on the surface of Fe2O3-NCs@SSM, leading to the formation of OTS@Fe2O3-NCs@SSM. The prepared OTS@Fe2O3-NCs@SSM shows excellent superhydrophobicity, with a water static contact angle of 151.3°. The separation efficiencies of OTS@Fe2O3-NCs@SSM for the mixtures of oil/water are all above 98.5%, except for corn oil/water (97.5%) because of its high viscosity. Moreover, the modified SSM exhibits excellent stability and recyclability. This work provides a facile approach for the preparation of superhydrophobic and super oleophilic metal meshes, which will lead to advancements in their large-scale applications on separating oil/water mixtures.