High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease

AIM： To investigate the prevalence of the ATP7B gene mutation in patients with hepatic presentation of Wilson＇s disease （WD） in Lithuania. METHODS： Eleven unrelated Lithuanian families, including 13 WD patients were tested. Clinically WD diagnosis was established in accordance to the Leipzig scoring system. Genomic DNA was extracted from whole venous blood using a salt precipitation method. Firstly, the semi-nested polymerase chain reaction （PCR） technique was used to detect the c.3207C〉A （p.H1069Q） mutation. Patients not homozygous for the c.3207C〉A （p.H1069Q） mutation were further analyzed. The 21 exons of the WD gene were amplified in a thermal cycler （Biometra T3 Thermocycler, G0ttingen, Germany）. Direct sequencing of the amplified PCR products was performed by cycle sequencing using fluorescent dye terminators in an automatic sequencer （Applied Biosystems, Darmstadt, Germany）. RESULTS： Total of 13 WD patients （mean age 26.4 years; range 17-40; male/female 3/10） presented with hepatic disorders and 16 their first degree relatives （including 12 siblings） were studied. Some of WD patients, in addition to hepatic symptoms, have had extrahepatic disorders （hemolytic anemia 3; Fanconi syndrome 1; neurophsychiatric and behavioural disorder 2）. Liver biopsy specimens were available in all of 13 WD patients （8 had cirrhosis; 1-chronic hepatitis; 3-acute liver failure, 1-1iver steatosis）. Twelve of 13 （92.3%） WD patients had the c.3207C〉A （p.HI069Q） mutation, 6 of them in both chromosomes, 6 were presented as compound heterozygotes with additional c.3472-82delGGTTTAACCAT, c.3402delC, c.3121C〉T （p.RI041W） or unknown mutations. For one patient with liver cirrhosis and psychiatric disorder （Leipzig score 6）, no mutations were found. Out of 16 first degree WD relatives, 11 （68.7%） were heterozygous for the c.3207C〉A （p.H1069Q） mutation. Two patients with fulminant WD died from acute liver failure and ii are in full remission under peniciilamine or zinc acetate treatment. Three women with WD successfully delivered healthy babies. CONCLUSION： The c.3207C〉A （p.HI069Q） missense mutation is the most characteristic mutation for Lithuanian patients with WD. Even 92.3% of WD patients with hepatic presentation of the disease are homozygous or compound heterozygotes for the p.H1069Q mutation.

Recovery prediction of copper oxide ore column leaching by hybrid neural genetic algorithm

The artificial neural network(ANN)and hybrid of artificial neural network and genetic algorithm(GANN)were appliedto predict the optimized conditions of column leaching of copper oxide ore with relations of input and output data.The leachingexperiments were performed in three columns with the heights of2,4and6m and in particle size of<25.4and<50.8mm.Theeffects of different operating parameters such as column height,particle size,acid flow rate and leaching time were studied tooptimize the conditions to achieve the maximum recovery of copper using column leaching in pilot scale.It was found that therecovery increased with increasing the acid flow rate and leaching time and decreasing particle size and column height.Theefficiency of GANN and ANN algorithms was compared with each other.The results showed that GANN is more efficient than ANNin predicting copper recovery.The proposed model can be used to predict the Cu recovery with a reasonable error.

西夏文《明堂灸经》版本新考——英藏、俄藏本的启示

对英藏《明堂灸经》残片进行释读,并与俄藏《明堂灸经》对译比较,加之与传世文献《太平圣惠方》卷一百《明堂灸经》及元窦桂芳《新刊〈黄帝明堂灸经〉》比对,可以判断英藏、俄藏本《明堂灸经》属同一版本的不同抄本,与《太平圣惠方》、元窦桂芳本一脉相承,而其真正价值则可能是佚失的王惟一《新铸铜人针灸图经》的西夏译本。

Mechanical properties and microstructure evolution of an Al-Cu-Li alloy subjected to rolling and aging

The mechanical properties and microstructure of Al-Cu-Li alloy sheets subjected to cryorolling(-100 ° C,-190 ℃) or hot rolling(400 ℃) and subsequent aging at 160 ℃ for different times were investigated. The dynamic precipitation and dislocation characterizations were examined via transmission electron microscopy and X-ray diffraction. The grain morphologies and the fracture-surface morphologies were studied via optical microscopy and scanning electron microscopy. Samples subjected to cryorolling followed by aging exhibited relatively high dislocation densities and a large number of precipitates compared with hot-rolled samples. The samples cryorolled at-190 ℃ and then aged for 15 h presented the highest ultimate tensile strength(586 MPa), while the alloy processed via hot rolling followed by 10 h aging exhibited the highest uniform elongation rate(11.5%). The size of precipitates increased with the aging time, which has significant effects on the interaction mechanism between dislocations and precipitates. Bowing is the main interaction method between the deformation-induced dislocations and coarsened precipitates during tensile tests, leading to the decline of the mechanical properties of the alloy during overaging. These interesting findings can provide significant insights into the development of materials possessing both excellent strength and high ductility.

Novel Thermally-Accessible Structural Changes of Chiral and Some Related Cu（ll） Complexes

A mononuclear chiral copper（ll） complex, [Cu（RRchxn）2（C（CN）3）2]＇H20 （RRchxn = （1R, 2R）-diaminocyclohexane） （RRchxnH）, and its deuterated compound, [Cu（RRchxn）2（C（CN）3）z].D20 （RRchxnD）, and their isomers, [Cu（trchxn）2（C（CN）3）2]＇H20 （trchxn = trans-l,2-diaminocyclohexane） （trchxnH） and [Cu（trchxn）2（C（CN）3）2]＇D20 （trchxnD） have been prepared and characterized by means of 1R （infrared）, electronic, and CD （circular dichroism） spectra, magnetic susceptibility, and variable-temperature X-ray crystallography as single crystals or powder. Interestingly, depending on grain size of samples, RRchxnH exhibits the monoclinic form and the orthorhombic form, which are distinguished by systematic absence and powder XRD （X-ray diffraction） patterns clearly. Although single crystals did not exhibit phase transition, powder XRD patterns of RRchxnH and weakly hydrogen bonded RRchxnD emerged low-temperature phase of monoclinic in the orthorhombic patterns only around 200-220 K. However, as a control, powder XRD patterns of both trchxnH and trchxnD did not exhibit such phase transition clearly.

Etymological Connections Between the Ancient People of laones and the Tacitean Suiones

According to Felice Vinci＇s revolutionary theory of the Nordic origins of the Homeric poems, the Achaeans who migrated to the Aegean Sea to found the Mycenaean civilization--whose language actually was an Ionian dialect, similar to that of Homer--were the laones, deriving their origin from Sweden. The Italian scholar offers significant analogies to prove his hypothesis, drawing them from several scientific disciplines, such as history （the movement appears similar to that of Varangians, who in the Middle Ages moved from Sweden to found the kingdom of Rus＇）, geography （the promontory of Cape Sounion, located 43 miles south-southeast of Athens, seems to be a souvenir of the same name）, archaeology （the spiral shape, one of the most popular ones in the volutes of the Ionic capitals, was a common decoration also during the Nordic Bronze Age）, and literature （especially a remarkable quotation taken from Plato, Critias 111e）. In the author＇s contribution, he tries to check Felice Vinci＇s interpretation through a careful survey in ancient literature and linguistics, in order to verify the etymological connections between the ancient people of laones and the Tacitean Suiones.