To analyze congenital sensorineural hearing loss combined with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). For the case of cochlear implantation to child with congenital sensorineural deafness combined BPES, accomplish routine examination and assessment, combining with literature to analyze the clinical diagnosis of this disease and its significance. Sensorineural hearing loss is a common congenital diseases with neonatal incidence of 1 per thousand - 3 per thousand, 50%-70% of deafness is associated with genetic factors, the incidence of congenital sensorineural hearing loss combined with eye disease is about 40%-60%, mainly reflected in ametropia and retinopathy. BPES's main clinical manifestations is blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES is a rare autosomal dominant disease caused by FOXL 2 gene mutation, sometimes associated with retarded growth, delayed development, congenital heart disease, and microcephaly. Suffering from both sensorineural hearing loss and BPES is rare in reported literature. This case is diagnosed by clinical examination, without visual impairment. Facial nerve dysplasia has been found during the surgery. For congenital deafness patients with eye disease or other diseases, timely and correct diagnosis has important clinical significance, which can improve the diagnostic rate and make it coming true to early intervention, and then, effectively improve the quality of the patients. There are few literature reports, of patients with two kinds of genetic diseases. Our inference is that the cases are rare or the patients has visited different departments and ignored the other systems' signs. Therefore, in such doubtful cases, we should do the professional comprehensive examination in daily clinical work in order to avoid missed diagnosis or delayed treatment and intervention. By analyzing this case, the patient may also suffer from facial nerve dysplasia. Preoperatively viewing CT scan and operatively facial nerve monitor being used can avoid the occurrence of surgical complications.
Blepharophimosis ; complications ; genetics ; Child ; Forkhead Transcription Factors ; Hearing Loss, Sensorineural ; congenital ; diagnosis ; Humans ; Mutation ; Skin Abnormalities ; complications ; genetics ; Urogenital Abnormalities ; complications ; genetics

Objective To study the apoptosis of human colorectal cancer HT-29 cells induced by Aralia elata Seem leaf total saponin (ETS) and its effects on the expression of relevant proteins. Methods MTT assay was used to detect the proliferation of human colorectal cancer HT-29 cells cultivated with different concentrations (6.25, 12.5, 25, 50, 100, 200 mg/kg) of ETS. Hoechst33258 staining and laser confocal imaging were used to detect the apoptotic cells. Morphological changes were observed. The expressions of Bcl-2 and Bax were detected by immuno-histochemistry. Results ETS could induce apoptosis of HT-29 cells and apoptosis was in a dose-dependent manner in a certain range. ETS could decrease the expression of Bcl-2 and increase the expression of Bax in HT-29 cells (P<0.05, P<0.01), showing a significant dose-effect relationship. Conclusion ETS can induce the apoptosis of HT-29 cells, and the mechanism may be related to reducing the expression of Bcl-2 and increasing the expression of Bax.

Objective:To investigate the clinical significance of detecting serum 25-hydroxyl-vitamin D [25(OH)D] level and albumin/fibrinogen ratio (AFR) in patients with rheumatoid arthritis (RA).Methods:This retrospective study included 131 patients (95 patients with RA and 36 with arthralgia excluding autoimmune diseases), who were treated in Bozhou People′s Hospital from May 2017 to January 2020. Forty healthy controls underwent health checkups during the same period served as healthy control. RA group was divided into high (>5.1, 25 cases), medium (3.2

BACKGROUND AND PURPOSE: Encephalitis caused by Listeria monocytogenes (L. monocytogenes) is rare but sometimes fatal. Early diagnosis is difficult using routine cerebrospinal fluid (CSF) tests, while next-generation sequencing (NGS) is increasingly being used for the detection and characterization of pathogens. METHODS: This study set up and applied unbiased NGS to detect L. monocytogenes in CSF collected from three cases of clinically suspected listeria meningoencephalitis. RESULTS: Three cases of patients with acute/subacute meningoencephalitis are reported. Magnetic resonance imaging and blood cultures led to a suspected diagnosis of L. monocytogenes, while the CSF cultures were negative. Unbiased NGS of CSF identified and sequenced reads corresponding to L. monocytogenes in all three cases. CONCLUSIONS: This is the first report highlighting the feasibility of applying NGS of CSF as a diagnostic method for central nervous system (CNS) L. monocytogenes infection. Routine application of this technology in clinical microbiology will significantly improve diagnostic methods for CNS infectious diseases.
Central Nervous System ; Cerebrospinal Fluid ; Communicable Diseases ; Diagnosis ; Early Diagnosis ; Encephalitis ; Humans ; Listeria monocytogenes* ; Listeria* ; Magnetic Resonance Imaging ; Meningitis, Listeria ; Meningoencephalitis* ; Methods