Adult ; Bone Marrow Transplantation ; Humans ; Male ; Pancreas ; pathology ; Pancreatic Neoplasms ; diagnosis ; secondary ; surgery ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; complications ; diagnosis ; physiopathology

OBJECTIVETo explore the effects of microcystin-LR (MCLR) on the expression of base excision repair genes and genes related to apoptosis.

METHODSThe BRL-3A cells were exposed to different concentrations of MCLR for various periods of time and the cell viability was measured by MTT. The mRNA expression was determined with the quantitative real-time polymerase chain reaction (QRT-PCR).

RESULTSThe viability of BRL-3A cells significantly reduced in a concentration- and time-dependent manner. In 30 µg/ml group, the mRNA expression level (1.327 ± 0.028) of p53 increased significantly at 24 h after exposure, as compared with the other groups (1.005 ± 0.117, 0.862 ± 0.154, 1.028 ± 0.056 and 1.015 ± 0.091) (P < 0.05). The mRNA expression levels (5.080 ± 0.729, 5.820 ± 0.373, 6.018 ± 0.359 and 6.183 ± 0.515) of Bax in all exposure groups were significantly higher than that (1.024 ± 0.277) in control group at 24 h after exposure. However, the Bax mRNA expression level (0.604 ± 0.146) in the 30 µg/ml group at 72 h after exposure was significantly lower than those (1.004 ± 0.107, 0.811 ± 0.142, 0.855 ± 0.101 and 0.814 ± 0.056) in other groups (P < 0.05). When compared with control group (1.006 ± 0.132) and 1 µg/ml group (1.034 ± 0.241), the mRNA expression level (0.488 ± 0.147) of PARP1 in 30 µg/ml group at 48 h after exposure decreased significantly (P < 0.05). Furthermore, the mRNA expression levels (0.594 ± 0.180, 0.491 ± 0.015 and 0.305 ± 0.091) of JWA, XRCC1 and PARP1 in 30 µg/ml group at 72 h after exposure decreased significantly, as compared with the other groups (P < 0.05).

CONCLUSIONThe induction of gene expression is a transient phenomenon that occurred at different times of exposure for different genes. Inhibition of MCLR on the base excision repair gene expression may play important role in the course of MCLR promoting liver tumor.

Animals ; Apoptosis ; Apoptosis Regulatory Proteins ; genetics ; Base Sequence ; Cell Line ; DNA Repair ; Gene Expression ; Microcystins ; toxicity ; RNA, Messenger ; genetics ; Rats

AIMTo study the chemical constituents of Selaginella tamariscina (Beauv.) Spring.

METHODSVarious chromatographic techniques were used to separate and purify the chemical constituents. Their physico-chemical properties and spectral data were used to elucidate the structures.

RESULTSFour compounds were isolated from the n-BuOH fraction of the water-extracts. Their structures were identified as 1-hydroxy-2-[2-hydroxy-3-methoxy-5-(1-hydroxyethyl)-phenyl]-3-(4-hydroxy-3,5-dimethoxy)-propane-1-O-beta-D-glucopyranoside (tamariscinoside B, I), adenosine (II), guanosine (III), arbutin (IV).

CONCLUSIONTamariscinoside B (I) is a new compound, while the others were isolated from Selaginella for the first time.

Adenosine ; chemistry ; isolation & purification ; Arbutin ; chemistry ; isolation & purification ; Glucosides ; chemistry ; isolation & purification ; Guanosine ; chemistry ; isolation & purification ; Molecular Conformation ; Molecular Structure ; Plants, Medicinal ; chemistry ; Selaginellaceae ; chemistry

AIMTo study the chemical constituents of Selaginella tamariscina (Beauv.) Spring.

METHODSThe compounds were isolated and purified by macroporous adsorption resin, Sephadex LH-20 and silica gel column chromatography and identified on the basis of their physicochemical and spectral data.

RESULTSFour compounds were obtained from the n-BuOH fraction of 70% acetone extracts. Their structures were elucidated as (7S, 8R)-7, 8-dihydro-7-(4-hydroxy-3,5-dimethoxyphenyl)-8-hydroxymethyl-[1'-( 7'-hydroxyethyl)-5' methoxyl] benzofuran-4-O-beta-D-glucopyranoside (tamariscinoside C, I), D-mannitol (II), tyrosine (II), shikimic acid (IV).

CONCLUSIONCompound I is a new compound, compounds II and III were obtained from the genius for the first time, compound IV was yielded from the plant for the first time.

Benzofurans ; chemistry ; isolation & purification ; Mannitol ; chemistry ; isolation & purification ; Molecular Conformation ; Molecular Structure ; Monosaccharides ; chemistry ; isolation & purification ; Plants, Medicinal ; chemistry ; Selaginellaceae ; chemistry ; Shikimic Acid ; chemistry ; isolation & purification ; Tyrosine ; chemistry ; isolation & purification

OBJECTIVETo observe therapeutic effect of colon purification on hepatic encephalopathy.

METHODS117 patients with hepatic encephalopathy treated in our hospital were randomly divided into the treatment group (59 cases) and the control group (58 cases). Routine anti-coma hepaticum treatments were carried out in both treatment and control groups, and colon purification treatment was performed in the treatment group on basis of routine anti-coma hepaticum. The changes in symptoms and signs were observed, the grading scores of hepatic encephalopathy were evaluated, liver function was tested and blood ammonia level was determined before and after treatment in the two groups. Time for regaining consciousness was recorded after treatment in the two groups.

RESULTSThe symptoms and signs were obviously improved, time for regaining consciousness was shortened, the grading scores decreased, and serum aminotransferase activity and bilirubin level and blood ammonia level significantly decreased in the treatment group as compared with those of the control group. Total effective rate in the treatment was significantly higher than that in the control group and death rate in the treatment group was significantly lower than that in the control group.

CONCLUSIONColon purification treatment is effective for hepatic encephalopathy due to cirrhosis.

Adult ; Aged ; Colon ; physiopathology ; Female ; Hepatic Encephalopathy ; therapy ; Humans ; Male ; Middle Aged ; Sorption Detoxification

OBJECTIVETo investigate the clinical features and mutations of the FAH gene.

METHODClinical records of two cases were collected, and diagnosis was made according to the diagnostic criteria of the International Organization for Rare Disorders (NORD). Genomic DNA was extracted from peripheral blood leukocytes with QIAamp DNA Mini Kit. The DNA extracts were subjected to direct sequencing for 14 exons together with adjacent fragments of FAH gene using ABI Prism 3730 Genetic Analyzer (Applied Biosystems, Foster City, CA) after PCR based on genomic DNA. The mutation source was verified by analyzing parents' exons corresponding to patients' mutation exons. The homology between human FAH enzyme and that of other species was surveyed using software Clustal X(European Bioinformatics Institute, Hinxton, Saffron Walde, UK). Polyphen (Polymorphism Phenotyping), available online, were used to predict possible impact of an amino acid substitution on structure and function of FAH enzyme. Polyphen calculates position-specific independent counts (PISC) scores for two amino acid variants in polymorphic position. A PISC scores that differ by > 2 were regarded as indicating the probability of damaging variants.

RESULTPatient 1 was a 5 months and 21 days-old boy who suffered from persistent diarrhea, hepatomegaly, ascites; Alpha-fetoprotein > 1210 µg/L, levels of tyrosine in blood and succinylacetone in urine were 110.8 µmol/L and 83.7 µmol/L. His sister suffered from tyrosinemia type 1. Direct sequencing showed a G to A transition in CDS position 455 and 1027. He was compound heterozygous for the mutation c.455G > A/c.1027G > A, which predicts a change from tryptophan to a stop codon (TGG > TAG) at position 152 (W152X) and a change from glycine to arginine (GGG > AGG) at position 343 respectively. Patient 2 was a 6 year and 1 month-old girl with late-onset rickets who had signs of hepatosplenomegaly, rachitic rosary, windswept knees. Hypophosphatemia and alkaline phosphatase 1620 IU/L were detected. Alpha-fetoprotein 412.8 µg/L, levels of tyrosine in blood and succinylacetone in urine were 835.8 µmol/L and 27.48 µmol/L. Rickets did not improve after administration of calcium and vitamine D3. She is homozygous for the mutation c.1027G > A/c.1027G > A, which predicts G343R. The parents were mutation carriers. Analysis by Clustal X on the alignment of amino acids residual reservation among different species showed that the locative amino acid was highly conserved. Polyphen software predicted G343R was probably damaging (PISC score 3.235).

CONCLUSIONChildren with tyrosinemia type 1 can have manifestations of persistent diarrhea or late-onset rickets. Physical examination can reveal hepatosplenomegaly, laboratory tests indicate markedly elevated serum concentration of alpha-fetoprotein and alkaline phosphatase in plasma and succinylacetone in urine, other members in family may have tyrosinemias or parents are consanguineous. Mutations c.455G > A and c.1027G > A can be detected in FAH gene of Chinese children.

Amino Acid Sequence ; Base Sequence ; Child ; Child, Preschool ; DNA Mutational Analysis ; Diarrhea ; etiology ; genetics ; Exons ; Female ; Heptanoates ; urine ; Humans ; Hydrolases ; genetics ; Infant ; Male ; Mutation ; Pedigree ; Polymerase Chain Reaction ; Rickets ; etiology ; genetics ; Tyrosine ; blood ; Tyrosinemias ; complications ; diagnosis ; genetics ; pathology ; alpha-Fetoproteins ; analysis

BACKGROUNDDuring the process of bone cement joint replacement, some patients show a series of complications, such as a sudden drop in blood pressure or dyspnea. The cause of the complication is considered to be due to emboli caused by the femur prosthesis insertion. The purpose of the present study was to detect the pulmonary embolism in rabbits after bone cement perfusion by radioimmunoimaging, and to explore its protective measures.

METHODSForty rabbits, 2.5 - 3.0 kg weight, were randomly assigned to four groups, with ten rabbits in each group. Group I (no intervention): Bone cement perfusion was done after medullary cavity reaming and pressurizing. Group II (epinephrine hydrochloride intervention): The medullary cavity was rinsed with a 1:10 000 normal saline-diluted epinephrine hydrochloride solution followed by bone cement perfusion after medullary cavity reaming and pressurizing. Group III (fibrin sealant intervention): The medullary cavity was precoated with fibrin sealant followed by bone cement perfusion after medullary cavity reaming and pressurizing. Group IV (blank control group): The medullary cavity was not perfused with bone cement after reaming. In each group, the rabbits underwent femoral head resection and medullary cavity reaming. Before bone cement perfusion, 2 ml of developing tracer was injected through the ear vein. Radionuclide imaging was performed at 60, 120, and 180 minutes after bone cement perfusion, and the pulmonary radioactivity in vivo was measured. The rabbits were immediately sacrificed, and the pulmonary tissue was removed and its radioactivity was measured in vitro. Pulmonary tissue was then fixed and the pulmonary embolism and the associated pathological changes were observed.

RESULTSThe pulmonary radioactivity in vivo was measured at 60, 120, and 180 minutes after bone cement perfusion. The radioactivities of the four groups were 11.67 ± 2.16, 14.59 ± 2.92 and 18.43 ± 4.83 in group I; 8.37 ± 3.05, 10.35 ± 2.24 and 11.48 ± 2.96 in group II; 3.91 ± 1.19, 5.53 ± 2.95 and 7.25 ± 1.26 in group III; 1.04 ± 0.35, 1.14 ± 0.87 and 1.43 ± 0.97 in group IV. The radioactivities of groups I, II, III at 60, 120 and 180 minutes were significantly higher than group IV (P < 0.05). The pulmonary embolism could be detected. Pretreatment with epinephrine hydrochloride and fibrin sealant significantly decreased the pulmonary radioactivity in group II and group III, but it was still higher than in the group IV.

CONCLUSIONSRadioimmunoimaging is an alternative method for the dynamic observation of rabbit pulmonary embolism after bone cement perfusion. Radioimmunoimaging is the optional way to evaluate the effect of pretreatment with epinephrine hydrochloride or fibrin sealant on pulmonary embolism after bone cement perfusion.

Animals ; Bone Cements ; Pulmonary Embolism ; diagnosis ; Rabbits ; Radioimmunodetection ; methods

Adult ; Cholecystectomy, Laparoscopic ; methods ; Cholecystitis ; complications ; surgery ; Female ; Gallstones ; complications ; surgery ; Humans ; Treatment Outcome

OBJECTIVE: To study the value of fast spin-echo diffusion weighted imaging (TSE-DWI) apparent diffusion coefficient (ADC) in children aged 2-12 years with intellectual disability (ID)/global developmental delay (GDD) who have normal conventional brain MRI findings. METHODS: A total of 578 children with normal conventional brain MRI findings who met the diagnostic criteria for ID/GDD and 375 normal children were enrolled. Their imaging and clinical data were collected. All children underwent scanning with brain TSE-DWI sequence and routine sequence. ADC values of each brain region were compared between normal children with different ages, as well as between children with different degrees of ID/GDD in each age group. The influence of Adaptive Behavior Assessment System-II (ABAS-II) score on ADC values of each brain region was analyzed. RESULTS: For the normal children, the ADC values of the frontal and temporal white matter, the corpus callosum, the inner capsule, the centrum semiovale, the cerebellar dentate nucleus, the optic radiation, the thalamus, the lenticular nucleus, and the caudate nucleus gradually decreased with age (P<0.05). ADC values of the deep white matter, the shallow white matter, the deep gray matter nuclei, and the shallow gray matter increased with the increase in the degree of ID/GDD in the ID/GDD children aged 4-6 years (P<0.05). In the children with ID/GDD, the ADC values of the deep white matter, the shallow white matter, and the deep gray matter nuclei decreased with age (P<0.05). The ADC values of the children with ID/GDD decreased with the increase in ABAS-II score (P<0.05). CONCLUSIONS ADC can reflect the subtle structural changes of brain regions in children with ID/GDD who have normal conventional brain MRI findings. It may be associated with social adaptation. It can provide an objective basis for the quantitative diagnosis of ID/GDD in children.
Brain ; Child ; Child, Preschool ; Diffusion Magnetic Resonance Imaging ; Humans ; Intellectual Disability ; diagnostic imaging ; Magnetic Resonance Imaging ; White Matter

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