Objective:To analyze the clinical features and genetic factors of neonatal 17β-hydroxysteroid dehydrogenase type10 (HSD10) deficiency.Methods:The clinical characteristics and genetic test results of a child with HSD10 deficiency coming from Children′s Hospital of Nanjing Medical University in April 2019 were retrospectively analyzed.The keywords" 17β-hydroxysteroid dehydrogenase type 10 deficiency" or " 2-Methyl3-Hydroxybutyryl-CoA dehydrogenase deficiency" or " HSD10" , etc.were searched in various databases, including CNKI, Wanfang, Weipu, Embase and PubMed to review the cases collected from all published data until May 31, 2020.Results:The patient was a newborn male who developed symptoms on the first day after birth.The main signs were metabolic acidosis, increased blood ammonia and lactate, and hypotonia.Trio whole exom sequencing in the patient and his parents identified hemizygous NM001037811: c.650G>A, p.R217Q in the HSD17B10 gene that is inherited from the mother.Since the child died on the third day after birth, no further central nervous system examination was performed.The mother of the child has intellectual disability, the sibling sister is normal and the HSD17B10 locus is wild type.By lite-rature reviewing, 5 newborn cases with clear medical records and genetic test results were listed.All patients were male, and had onset of HSD10 deficiency within 1 week after birth.The main phenotypes include metabolic acidosis (increased blood ammonia and lactate), hypoglycemia, hypotonia, and convulsions.All 6 children died in early infancy.The corresponsive HSD17B10 variants were c. 740A>G/p.N247S, c.677G>A/p.R226Q, c.257A>G/p.D86G and c. 650G>A/p.R217Q, which did not indicate the hot spots of mutation. Conclusions:HSD10 deficiency in the neonatal period is relatively rare.The clinical diagnosis is difficult due to the serious condition and short course of the disease.Severe metabolic acidosis, hypotonia, and convulsions in neonatal patients are the main reasons for the poor prognosis, which can be attributed to the hemizygous variation and heterogeneity of the mutation site in male patients.c.650G>A may be closely associated with severe neonatal HSD10 deficiency, but the molecular biological mechanism needs to be further clarified.HSD10 deficiency has a poor prognosis and lacks effective treatment.

Abstract?AlM:To analyze of the clinical features of acute retinal pigment epitheltis ( ARPE) .?METHODS: The clinical data of 36 ARPE patients ( 40 eyes) attending this center from January 2008 to January 2014 were reviewed retrospectively. Of them, 21 patients (58.3%) were male (male :female=1:0. 71). The mean age was 40. 92±7. 13 years old (range:17~60y). The mean best-corrected visual acuity (BCVA) was 0. 50±0. 26 with a range of 0. 3 ~ 1. 0. Thirty-two patients were unilateral cases. All the patients were examined for BCVA, funds photography, fluorescein fundus angiography ( FFA ) , optical coherence tomography ( OCT) . FFA was shown as three types: type ▏ to multiple black light or grape variety fluorescent spot; Type II for l lesions visible fluorescence leakage; Type Ⅲ lesions with choroid neovascularization ( CNV ) . OCT was the following three forms: multiple RPE lesions layer reflection intermittent, proliferation ( type ▏); pigment epithelial detachment with limitations neural epithelium ( typeII);types l and ll with CNV ( type Ⅲ) .?RESULTS: Ocular fundus showed that the lesions were multiple dark-gray spots with a dark circumscribed area at the macular or nearby in all 40 eyes. FFA showed:21 eyes were type ▏, 17 eyes were type II and 2 eyes were typeⅢ, BCVA between type ▏ and type II was statistically significant (P<0. 05), the same was between type 芋. BCVA between different cases in the same type and between type II, Ⅲ, was no statistical difference ( P>0. 05). OCT showed 21 eyes wwere type ▏, 17 eyes were type II and type Ⅲ 2 eyes. BCVA average between type▏ andIIwas statistically significant (P<0. 05). The mean BCVA was no statistically significant difference between type II and Ⅲ patients (P>0. 05).?CONCLUSlON:ARPE fundus demonstrated the multiple dark gray discrete lesions, the degree of visual impairment related with the presence of pigment epithelial barrier and lesion location. OCT and FFA characterized three types. FFA is shown asblack light orgrape variety fluorescent spot, and is the basis of diagnosis. OCT can display the lesions organization form of each layer clearly. lt plays a more and more important role in the diagnosis and differential diagnosis of ARPE.

Objective To investigate the occurrence of nocturnal myocardial ischemia and its relationship with sleep-disordered breathing (apneas and oxygen desaturations) in patients with angina pectoris undergoing coronary angiography.Methods Eighty-two men and 14 women referred for consideration of coronary intervention were randomly selected. Observation by an overnight sleep monitor and Holter recording were performed to study sleep-disordered breathing (oxyhemoglobin desaturations≥4％ and apnea-hypopneas),heart rates, and ST-segment depressions (≥ 1mm, ≥1 min).Results Nocturnal ST-segment depressions occurred in 37 ％ of the patients. ST-segment depression within 2 min after an apnea-hypopnea or desaturation occurred in 17％ of the patients. This temporal association was seen in 21％ of the patients with nocturnal ST-segment depressions, more frequently in men (P＜0.05) and more frequently in those with severe disordered breathing (P＜0.05).Most of these ST-segment depressions were preceded by a series of breathing events: repeated apnea-hypopneas or desaturations or both in 73％ of the patients. Conclusions Episodes of nocturnal myocardial ischemia are common in patients with angina pectoris. A temporal relationship between sleep-disordered breathing and myocardial ischemia was present in some of our patients, and occurs more frequently in men and in those with severely disordered breathing. (J Geriatr Cardiol 2004;1(2):90-94.)

Now organophosphorus pesticides (OPs) bioremediation mainly means microbial bioremediation. However, phytoremediation has an advantage over microbial bioremediation because phytoremediation is safer and costs less than microbial bioremediation. Nevertheless, phytoremediation has limitations yet such as plants need better growth conditions and the efficiency of phytoremediation is lower. All these have confined the application of phytoremediation. Progresses of microbial bioremediation and phytoremediation of OPs were reviewed and OPs degrading enzymes and their organism sources, which are known by now, were summarized. Moreover, there are five important ways to enhance the efficiency of phytoremediation of OPs. They are culling plants, studying the action between soil and OPs, studying the genes that can resist or get rid of OPs, setting up the combined system of microbial bioremediation and phytoremediation and using degrading enzymes secreted selectively by roots.

Adult ; Angiomyolipoma ; diagnostic imaging ; metabolism ; pathology ; surgery ; Antigens, Neoplasm ; metabolism ; Epithelioid Cells ; pathology ; Female ; Humans ; Kidney Neoplasms ; diagnostic imaging ; metabolism ; pathology ; surgery ; Lymphatic Metastasis ; Melanoma-Specific Antigens ; Neoplasm Proteins ; metabolism ; Nephrectomy ; Tomography, X-Ray Computed

OBJECTIVETo introduce the framework of evidence-based practice with a case of castration-resistant prostate cancer (CRPC) as an example.

METHODSA clinical question was formulated according the clinical scenario. A systematic search was conducted for the published literature in the databases of PubMed, EMBASE, Cochrane Library, Clinical Trial Registries, and Web of Knowledge up to Dec 2014. The identified literature was reviewed for quality appraisal before the evidence was applied to clinical practice.

RESULTSThe treatment was effective and the patient achieved disease remission.

CONCLUSIONEvidence-based practice should be integrated with clinical scenario, current evidence, and patients' willingness, and follow a systematic framework.

Since the polyjuice potion ingredient is complex, we need to develop an analysis method with well separation and high stability to perform qualitative analysis. After dividing chemical components of Mahuang Decoction into fat-soluble and water-soluble constituents by gradient extraction, GC-MS was used to analyze the chemical components of the ethyl acetate extraction. The results showed that forty compounds had been identified by NIST MS search 2.0 standard mass spectrometry Library and literatures. Next, UPLC-Q-TOF-MS was applied to idendify the chemical components of the water extraction. The results showed that thirty-nine compounds had been identified by MZmine-2.9.1, Isotope Pattern, fragmentation regularity of mass spectrometry and literatures. This experiment will provide evidences for elucidation of the effective substance in Mahuang decoction and can be used as a simple, shortcut method for analysis and identification for the polyjuice potion.
Chromatography, High Pressure Liquid ; methods ; Ephedra ; chemistry ; Ephedra sinica ; chemistry ; Gas Chromatography-Mass Spectrometry ; methods

How to identify active constituents of traditional Chinese medicines (TCMs) and study their interactions are key problems in the development of TCMs. The inhibitory effect of six alkaloids from Rhizoma Coptidis (RC) on Shigella dysenteriae (S. dysenteria) growth had been investigated by microcalorimetry in this study. Main active constituents of RC were confirmed by comparing their contributions to the bacteriostatic effect, and the interactions among active constituents were further researched. According to the result, in 0.8 mg-mL-1 extract of RC, the contributions of six active alkaloids including berberine, coptisine, epiberberine, palmatine and the combination of jatrorrhizine and columbamine were 52.83%, 36.31%, 2.49%, 4.27% and 3.21%, respectively. Therefore, berberine and coptisine were the main active constituents of RC that inhibited the growth of S. dysenteria. The study of interactions among the six alkaloids indicated that, 1 there were some contstituents antagonizing the inhibitory effect of RC, 2 there was a synergy effect between berberine and coptisine, 3 there were additive effects between other four alkaloids and the main active constituents. These results may provide some useful references for the establishment of the quality standard for RC and the development of multi-component TCMs.
Alkaloids ; analysis ; pharmacology ; Berberine ; analogs & derivatives ; analysis ; pharmacology ; Berberine Alkaloids ; analysis ; pharmacology ; Coptis ; chemistry ; Drug Interactions ; Drug Synergism ; Plants, Medicinal ; chemistry ; Quality Control ; Rhizome ; chemistry ; Shigella dysenteriae ; drug effects ; growth & development

Objective To explore the activation and function of Janus protein-tyrosine kinase (JAK)/ signal transducer and activator of transcription (STAT1) signal transduction pathway in kidney,lung and brain of MRL/lpr mice.Methods MRL/lpr mice with systemic lupus erythematosus (SLE) were studied at the age of 12 weeks up.Non-SLE MRL/lpr mice were used as controls.We used phosphospecific antibodies to detect STAT1 activation in kidney,lung and brain by immunohistochemistry and Western blots.Gene expression of the STAT induced feedback inhibitors of cytokine signaling 1 (SOCS-1) was investigated by SYBR green I real-time reverse transcriptase polymerase chain reaction (PCR).Results Phosphorylation of STAT1 protein was markedly activated in these three organs,although renal and pulmonary STAT1 activation were much more evidently activated.SOCS-1 gene expression increased in all three organs,while renal SOCS-1 gene expres- sion increased less than lung and brain.Conclusion The activation of JAK/STATI signal transduction path- way may be pathogenic in the organ involvement and progression of SLE.The pathogenesis of lupus nephritis may also be associated with the down-regulation of SOCS-1 feedback inhibition.

Objective To investigate the intima-media thickness and cardiac remodeling in patients with prehypertension and impaired glucose tolerance.Method Three-hundred patients were divided into four groups:normal control ( NC,n = 61 ),prehypertension ( PH,n = 83 ),impaired glucose tolerance ( IGT,n = 91 ),prehypertension and impaired glucose tolerance ( PH + IGT,n = 65 ).Intima-media thickness (IMT) was measured by doppler ultrasonography.Left ventricle mess (LVMI),midwall fractional shortening (mFS),peakE/peakA ( E/A ) were measured by echocardiography.Results ( 1 ) IMT was significantly increased in PH,IGT and PH + IGT groups than in NC group [ (0.7 ± 0.1 ) mm,(0.7 ± 0.1 )mm and( 1.0 ±0.1 ) mm vs.(0.6 ±0.1 ) mm,all P ＜0.01 ],which was significantly high in PH + IGT group than in PH or IGT group.Regression analysis demonstrated that high-sensitivity C-reactive protein (hsCRP),2-hour postprandial blood glucose (2hPBG),systolic pressure (SBP),diastolic blood pressure (DBP) were independent predictors to increased IMT.(2) LVMI was higher in PH and PH + IGT groups than in NC group [ (97.0 ± 3.3 ) g/m2,(97.1 ± 2.8 ) g/m2 vs.( 87.0 ± 2.0) g/m2,( 87.9 ± 1.5 ) g/m2,all P ＜ 0.01 ],and positively related with SBP,DBP.( 3 ) mFS was lower in PH and PH + IGT groups [(14.0±0.8)％,(14.0±0.8)％ vs.(18.3±1.0)％,(18.2±0.5)％,P＜0.01],negatively related with SBP and DBP.E/A was similar among groups and lower E/A was associated with higher SBP.Conclusion Vascular and left ventricular structure remodeling and systolic dysfunction could be detected in prehypertension patients.Impaired glucose tolerance could enhance vascular remodeling in prehypertension patients.