Familial Hypercholesterolemia Presenting as Cerebral Ischemia and Xanthoma.

Familial hypercholesterolemia (FH) is one of the inherited metabolic diseases, demonstrating the low-density lipoprotein receptor (LDLR) abnormality and serum cholesterol level marked elevation. FH has become an extremely high incident cause of occlusive coronary heart disease. However, even though hemorheological disorder caused by hyperlipidemia is a risk factor of ischemic cerebrovascular disease, cerebral infarction caused by FH has not been given much attention. We present a 41-year-old man with a family history of hypercholesterolemia was admitted to our hospital with dizziness, vertigo, slurred speech, and weakness in his left limbs. Head CT scan showed multiple acute cerebral infarction in the right frontal and parietal lobes. He had arcus corneae and less obvious signs of cutaneous xanthomas in the hands and knees. Molecular analysis of the LDLR gene identified heterozygous and missense mutation in exon 12 of the LDLR gene. The final diagnosis was cerebral infarction caused by FH. It is worth noting that cerebral infarction may also occur in patients with FH. Even if the most patients do not have any sign or history of cerebral ischemia, they need more attention to precise examination of the brain.

Nitrogen-doped biochar as peroxymonosulfate activator to degrade 2,4-dichlorophenol: Preparation, properties and structure-activity relationship.

Nitrogen-doped biochar (NCMs) has shown great potential as metal-free catalysts for persulfates. To understand the evolution law of properties of NCMs with preparation conditions, eleven NCMs were prepared and characterized by EA, BET, Raman, XPS, and conductivity. Surface area and conductivity can be improved by higher pyrolysis temperature and longer retention time. Distribution of nitrogen species of NCMs was greatly influenced by pyrolysis temperature. Subsequently, these NCMs were applied to activate peroxymonosulfate to degrade 2,4-dichlorophenol. A linear correlation of the initial apparent degradation rate constant (kobs) of 2,4-dichlorophenol with conductivity and ratio of graphitic N was newly established, revealing that conductivity and graphitic N of NCMs would be the key property deciding degradation efficiency of 2,4-dichlorophenol. Positive effect of conductivity can be ascribed to the mediated electron-transfer mechanism. Electron-transfer mechanism is also proved by quenching experiments and solvent deuterium isotope effect experiment. Graphitic N would be the main active site for PMS activation. Understanding the evolvement rule of properties of NCMs with preparation conditions combined with the correlations between reactivity and properties of NCMs is meaningful for preparation of nitrogen-doped biochar as well as the development of carbonaceous materials with high performance in persulfates-based advanced oxidation processes.

Intraosseous schwannoma of the proximal humerus with pathologic fracture.

BACKGROUND: Intraosseous schwannomas are extremely rare in the humerus, and less than five cases have been reported previously in the literature. This is the first report of its origin in the proximal humerus with pathologic fracture. We herein present this case to discuss the reason for its rarity and share our experience of management. CASE PRESENTATION: A 55-year-old female patient presented with pain in the right shoulder, which was caused by tripping and falling over a board. Radiographs, computed tomography (CT) and magnetic resonance imaging (MRI) showed considerable tumor in proximal humerus, which connected with a fracture. For this suspected tumor, we performed two operations. Pathological examination demonstrated typical picture of a schwannoma, showing whorls and interlacing fascicles of schwannoma spindle cells. Immunohistochemistry, the tumor cells were diffusely positive for S-100 protein, SOX-10 and CD68, while they were completely negative for desmin, DOG-1, AE1/AE3 and P63. The Ki-67 index was about 10%. No mitoses or features of malignancy were identified. The final diagnosis of intraosseous schwannoma was made. The treatment for intraosseous schwannoma with pathologic fracture includes excisional biopsy, curettage, bone allograft, and fracture fixation. The patient recovered well. After the surgery, the patient gradually regained mobility and the pain subsided. There was no recurrence after 6 months of follow-up by X-ray. CONCLUSIONS: Although very rare, intraosseous schwannoma should be taken under consideration in the differential diagnosis of benign-appearing osseous tumor in the proximal humerus with pathologic fracture.