Organoid is one of the hottest areas of research in the field of stem cells, which is an organ in a dish with three-dimensional structure and physiological functions that are highly similar to organs in vivo.At present, the generation methods of lens organoids, namely the lentoid bodies, have been established and continuously developed.The double-convex transparent lentoid bodies, with refractive function and all microscopic components of natural lenses, act as reliable in vitro models of human lenses and provide convenience for studying the mechanism of lens development.Moreover, the establishment of age-related cataract and congenital cataract models based on the lentoid bodies also provides great convenience and reliability for the study of pathological mechanism of cataract and drug screening, showing broad prospects in basic research and even clinical transformation for cataract.

Objective To investigate the feasibility of low-c oncentration iso_osmolar contrast agent together with low tube voltage and iterative reconstruction algorithm in rabbit liver computed tonography (CT) perfusion imaging.Methods A total of 15 bealthy New Zealand rabbits were scanned twice of liver CT perfusion scans each with 24 hours interval.The first scan (routine group) was acquired at 100 kV and 100 mAs with ultravist (370 mg/ml),while the second (double low group) was acquired at 80 kV and 100 mAs with iodixanol (270 mg/ml) at 24 hours after the first scan.The obtained images were reconstructed with filtered back projection (FBP) and adaptive iterative dose reduction (AIDR-3D)algorithms in the controlled and experimental groups,respectively.The perfusion parameters including hepatic artery perfusion(HAP),portal vein perfasion(PVP),hepatic perfusion index(HPI),and total liver perfusion(TLP) and image quality as image quality score,average CT value of abdomen aorta,signalto-noise ratio(SNR),carrier-to-noise ratio(CNR),and figure of merit(FOM) were compared used pair ttest or Mann-Whitney U-test between the two groups wherever appropriate.The effective radiation dose and iodine intake were also recorded and compared.Results The image quality and perfusion parameters had no significantly different between the two groups except for FOM.The effective radiation dose and iodine intake were 38.79％ and 27.03％ lower in the double low group.Conclusions Low concentration iso _osmolar contrast agent (iodixanol,270 mg/ml) together with low tube voltage (80 kV) helps to reduce radiation dose and iodine intake without compromising perfusion parameters and image quality in liver CT perfusion imaging.

OBJECTIVETo analyze the detection rate and gene distribution characteristic of deletional α-thalassemia in Guangxi area, and to provide theoretic basis for thalassemia gene diagnosis and genetic counseling.

METHODSThe regular gene diagnosis of 3 types of α-thal (-- (SEA),- α(3.7),- α(4.2)) was performed by gap-PCR, multiple ligation probe and gene sequencing for globin α or β were used to detect those samples whose genotype and phenotype were not consistent. And the distribution characteristic of α-thalassemia gene in Guangxi area was then analyzed.

RESULTSOut of 51 191 suspected thalassemia patients, there were 19 853 cases of deletional a-thalassemia, accounted for 39.9% in total positive rate, including 19 780 cases of regular types(--(SEA), - α(3.7), - α(4.2)), 61 cases of Thailand-type deletion, 9 cases of triplet type (Hong Kong) (ααα(HK)), 1 case of 21.9 kb deletion type and 2 cases of 809 bp deletion type.

CONCLUSIONTypes of deletional a-thalassemia were complex and accounted for large proportion in Guangxi area. Special gene diagnoses were needed for those couples whose genotype and phenotype were not consistent, in order to provide reliable basis for genetic counseling and prenatal diagnosis.

China ; Genotype ; Humans ; Phenotype ; Polymerase Chain Reaction ; Sequence Deletion ; alpha-Thalassemia ; genetics

OBJECTIVETo analyze the status and genotypes of Hb H disease in GuangXi area.

METHODSHuman genomic DNA of 50 377 suspected thalassemia patients was extracted from blood, amniotic fluid and chorionic villi by beads. The deletion of α-thalassemia was detected by Gap-PCR, and the gene mutation of α or β-thalassemia was detected by PCR- RDB. Performing multiplex ligationdependent probe amplification detection and gene sequencing in α or β-globin for the specimens in question.

RESULTSThere were 1 571 Hb H disease patients in total from 2011 to 2013, and the detection rates were 2.82%, 3.54% and 3.00% respectively. The vast majority of patients had the Southeast Asian deletion (--(SEA)) on one allele. The - α³·⁷ (rightward) deletion was the most common on the other allele, followed by Hb Constant Spring (Hb CS), the -α(4.2) (leftward) deletion, Hb Westmead (Hb WS) and Hb Quong Sze (Hb QS) mutations. There were 33 Hb H disease patients which genotypes was α(CS)α/α (CS)α. Five patients had THAI deletion(--(THAI)) with deletion or point mutation of α-thalassemia. 95 patients had concomitant β-thalassemia (β-thal) heterozygosity. Tere was a novel genotype of --(SEA)/-α²¹·⁹ causing Hb H disease.

CONCLUSIONGuangXi area had a high accidence of Hb H disease, the results reflected the genetic diversity and genetic heterogeneity of Hb H disease, the latter may also occur new mutations or combined β-thalassemia, some effective measures should be taken to strengthen screening efforts to prevent underdiagnosis of Hb H disease.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; China ; Female ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Young Adult ; alpha-Thalassemia ; genetics