Objective: To explore the clinical features of hepatocerebral mitochondrial DNA depletion syndrome (MDS). Methods: The clinical data of 6 hepatocerebral MDS patients diagnosed in the Jinshan Hospital of Fudan University from January 2012 to December 2019 were retrospectively collected and analyzed. Related literature published before January 2020 were searched with the key words of "DGUOK""MPV17""POLG""C10orf2" in PubMed, China national knowledge infrastructure (CNKI) and Wanfang database. Results: All the 6 hepatocerebral MDS cases were male. The age of onset ranged from 3 days to 8 months. The most common initial symptoms were cholestasis and developmental retrogression. The main clinical manifestations included hepatomegaly (4 cases), hypotonia (3 cases), growth retardation (4 cases), cholestasis (5 cases), coagulopathy (5 cases), hypoalbuminemia (3 cases), hypoglycemia (4 cases), hyperlactacidemia (5 cases), and abnormal blood metabolism screening (6 cases). The isotope hepatobiliary imaging revealed no gallbladder and intestinal tract development within 24 hours in 2 patients. Regarding the cranial imaging examination, the head CT found widening of the extracranial space in 1 case, the brain magnetic resonance imaging (MRI) found ventricular enlargement in 2 cases, and the brain ultrasound found peripheral white matter injury in 1 case. Two cases were lost to follow-up, one died of liver failure, and three died of multiple organ failure due to aggravated infection. Among the 6 cases, there were 3 with MPV17 variation (c.182T>C and c.279G>C were novel), 1 with POLG variation (c.2993G>A was novel), 1 with DGUOK variation (c.679G>A homozygous mutation, parthenogenetic diploid of chromosome 2) and 1 with C10orf2 variation (c.1186C>T and c.1504C>T were novel). The literature review found that 129, 100, 51 and 12 cases of hepatocerebral MDS were caused by DGUOK, MPV17, POLG and C10orf2 gene variations, respectively. And the most common clinical manifestations were liver dysfunction presented with cholestasis and elevated transaminase, metabolic disorders including hypoglycemia and hyperlactacidemia, and diverse neurologic symptoms including developmental retardation, hypotonia, epilepsy and peripheral neuropathy. Besides, 1/3 of the patients with C10orf2 variation developed renal tubular injury. Conclusions: Hepatocerebral MDS mainly present with liver dysfunction, metabolic disorder and neuromuscular impairment. Different genotypes show specific clinical manifestations.
Cholestasis ; DNA, Mitochondrial/genetics* ; Female ; Humans ; Hypoglycemia/genetics* ; Infant ; Liver Diseases/genetics* ; Male ; Mitochondrial Diseases ; Muscle Hypotonia ; Retrospective Studies

OBJECTIVE: To evaluate the value of multi-slice CT angiography (MSCTA) in the diagnosis of super mesenteric artery (SMA) and super mesenteric vein (SMV), and discuss the 3D reconstruction method for detecting mesenteric vessel lesions. METHODS: Thirty-three patients suffering from mesenteric vessel diseases were analyzed. There were 14 SMA lesions, including 9 thromboses, 3 dissecting aneurysms, 1 pseudoaneurysm, and 1 malrotation. There were 19 SMV thromboses. The 3D reconstruction included volume rendering (VR), maximum intensity projection (MIP), and multi-planner reformation (MPR). RESULTS: The lesions appeared clear by MSCTA in the 33 patients. The SMA thrombosis was shown clear in the MIP in all 9 patients, and only 4 of them were detected in the VR. There was significant difference between MIP andVR in detecting SMA thrombosis (P=0.0294). Three dissecting aneurysms were best shown in the MPR; 1 pseudoaneurysm and 1 malrotation were clearly manifested in the VR. The thrombosis of SMV was clearly shown by both MIP and MPR in all 19 patients. Collateral vessels were clearly shown in the MIP in 12 patients; the collateral vessels were detected by VR only in 5, and the other 7 failed to show the collateral vessels. There was significant difference between the MIP and the VR in showing lateral collateral vessels (P=0.0046). CONCLUSION Both lesions of SMA and SMV can be detected by MSCTA. MIP is an ideal reconstruction method for SMA thrombosis and collateral vessels around the SMV.
Aneurysm, Dissecting ; diagnosis ; Angiography ; Humans ; Mesenteric Arteries ; pathology ; Mesenteric Veins ; pathology ; Thrombosis ; diagnosis ; Tomography, X-Ray Computed

OBJECTIVECr(VI) removal from industrial effluents and sediments has attracted the attention of environmental researchers. In the present study, we aimed to isolate bacteria for Cr(VI) bioremediation from sediment samples and to optimize parameters of biodegradation.

METHODSStrains with the ability to tolerate Cr(VI) were obtained by serial dilution and spread plate methods and characterized by morphology, 16S rDNA identification, and phylogenetic analysis. Cr(VI) was determined using the 1,5-diphenylcarbazide method, and the optimum pH and temperature for degradation were studied using a multiple-factor mixed experimental design. Statistical analysis methods were used to analyze the results.

RESULTSFifty-five strains were obtained, and one strain (Sporosarcina saromensis M52; patent application number: 201410819443.3) having the ability to tolerate 500 mg Cr(VI)/L was selected to optimize the degradation conditions. M52 was found be able to efficiently remove 50-200 mg Cr(VI)/L in 24 h, achieving the highest removal efficiency at pH 7.0-8.5 and 35 °C. Moreover, M52 could completely degrade 100 mg Cr(VI)/L at pH 8.0 and 35 °C in 24 h. The mechanism involved in the reduction of Cr(VI) was considered to be bioreduction rather than absorption.

CONCLUSIONThe strong degradation ability of S. saromensis M52 and its advantageous functional characteristics support the potential use of this organism for bioremediation of heavy metal pollution.

Biodegradation, Environmental ; China ; Chromium ; metabolism ; Geologic Sediments ; microbiology ; RNA, Ribosomal, 16S ; genetics ; Sporosarcina ; genetics ; isolation & purification ; metabolism

BACKGROUND: The efficacy of entecavir (ETV) add-on peg-interferon therapy compared with ETV monotherapy in treatment-naïve hepatitis B virus (HBV) patients remains controversial. We investigated whether adding peg-interferon to ongoing ETV treatment leads to a better curative effect or not. METHODS: All patients have been recruited between August 2013 and January 2015 from the Shanghai Public Health Clinical Center and Zhongshan Hospital (China). Eligible HBV patients (n = 144) were randomly divided (1:1) to receive either ETV monotherapy (n = 70) or peg-interferon add-on therapy from week 26 to 52 (n = 74). Patients were followed-up for at least 2 years. Indexes including hepatitis B surface antigen (HBsAg) and hepatitis B e antigen (HBeAg) seroconversion rate, sustained virologic response, transient elastography value, and histological scores were evaluated every 3 months until the end of the study. The rate of patients with HBsAg loss was defined as the primary endpoint criteria. RESULTS: At week 26, no patient achieved HBsAg seroconversion in either group. At week 52, one patient in the monotherapy group was HBsAg-negative but there was none in the combination therapy group. The monotherapy group showed significantly better liver function recovery results than the combination therapy group. At week 78, one patient in the combination group had HBsAg seroconverted. At week 104, only three patients in the combination therapy group were HBsAg-negative compared with one patient in monotherapy. The mean alanine aminotransferase and aspartate aminotransferase levels and transient elastography values decreased significantly compared with baseline. Both groups showed a favorable decrease in alpha-fetoprotein (monotherapy: 4.5 [2.8, 7.1] vs. 2.2 [1.8, 3.1] ng/mL, P < 0.001; combination therapy: 5.7 [3.0, 18.8] vs. 3.2 [2.0, 4.3] ng/mL, P < 0.001) and an improved result of liver biopsy examination scores. The combination group showed a better improvement in histology compared with the monotherapy group (mean transient elastography value 6.6 [4.9, 9.8] vs. 7.8 [5.4, 11.1] kPa, P = 0.028). But there was no significant difference in HBsAg conversion rate (1.8% [1/56] vs. 4.1% [3/73], P = 0.809) and HBeAg conversion rate (12.5% [7/56] vs. 11.0% [8/73], P = 0.787), as well as HBV-DNA, sustained virologic response (93.2% vs. 98.5%, P = 0.150) between the two groups. CONCLUSIONS: Both therapies supported liver function recovery and histology improvement. Combination therapy did not show better anti-viral efficacy in HBsAg or HBeAg seroconversion compared with monotherapy. However, combination therapy played a more positive role in reversing hepatic fibrosis compared with monotherapy. TRIAL REGISTRATION ClinicalTrials.gov: NCT02849132; https://clinicaltrials.gov/ct2/show/NCT02849132.