OBJECTIVE: To explore the pathogenesis of two siblings (including a fetus) from a pedigree affected with Joubert syndrome. METHODS: Peripheral blood samples of the proband and his parents as well as amniotic fluid and abortion tissues of the fetus were collected. Part of the samples were used for the extraction of DNA, and whole exome sequencing (WES) was carried out to screen potential variants in the proband and his parents. Suspected variants were subjected to bioinformatics analysis with consideration of the clinical phenotype, and were verified by Sanger sequencing of the proband, fetus and their parents.The remainders were used for the extraction of RNA, and the mechanism of splicing variant was validated by reverse transcription-PCR (RT-PCR). RESULTS: WES showed that both patients have carried c.175C>T (p.R59X) and c.553+1G>A compound heterozygous variants of the TMEM237 gene. Among these, c.175C>T was a nonsense mutation inherited from the asymptomatic mother, while c.553+1G>A was an alternative splicing mutation inherited from the asymptomatic father. RT-PCR showed that this variant has resulted in aberrant splicing by exon skipping. CONCLUSION The compound heterozygous variants of the TMEM237 gene probably underlay the etiology of Joubert syndrome in this pedigree. Above finding has enriched the phenotype and variant spectrum of the TMEM237 gene, and facilitated genetic counseling and prenatal diagnosis for the family.
Abnormalities, Multiple/genetics* ; Cerebellum/abnormalities* ; Eye Abnormalities ; Female ; Genotype ; Humans ; Kidney Diseases, Cystic ; Mutation ; Pedigree ; Phenotype ; Pregnancy ; Retina/abnormalities*

【Objective】 To retrospectively analyze the clinical use of low-dose blood components in Dongguan and the trend of clinical pediatric blood use, so as to provide reference for better preparation and inventory management of low-dose blood components in blood centers. 【Methods】 The clinical consumption of RBCs, platelets and plasma of Dongguan Blood Center from 2015 to 2020 was counted. The compositions and changes of low-dose blood components by specifications (0.25 U, 0.5 U), years and hospitals (public grade A general hospital, public grade A specialized hospital, private grade A hospital, private hospital equivalent to grade A, regional central hospital, public township hospital, small private hospital) were analyzed. 【Results】 The cumulative growth rates of low-dose RBCs, platelets, and plasma in 6 years were 10.78%, 1 098.55% and -29.41%, respectively, and the compound annual growth rates were 2.07%, 64.34% and -6.73%, respectively. The composition of low-dose blood components in RBCs, platelets and plasma was different (P<0.05) in different levels of hospitals, among which RBCs and plasma were the mostly used in public grade A specialized hospital, accounting for 45.08% (7 272 /16 133) and 53.18% (7 199/13 373) respectively, while platelets were the mostly used in private grade A management hospitals, accounting for 77.38% (3 393/4 385), dominated by apheresis platelets 53.84% (1 144/2 125) and irradiated apheresis platelets 99.51% (2 249/2 260). The composition ratios of 0.25 U and 0.5 U RBCs used in different hospitals were significantly different (P<0.05). The 0.25 U RBCs were used mostly in public grade A hospitals (62.60%, 3 502/5 594) and 0.5 U RBCs in public grade A specialized hospitals (62.09%, 6 544/10 539). 【Conclusion】 The total consumption of low-dose blood components in clinical pediatrics from 2015 to 2020 were as follows: platelets had increased significantly year by year, RBCs had increased steadily and with fluctuation, plasma had a downward trend year by year. The consumption volume and varieties used in different levels of hospitals were uneven, which may be related to the development of pediatrics departments in hospitals and their capabilities to conduct new business. Regular monitoring of the trend of low-dose blood component consumption is of great significance to guarantee the pediatric clinical blood supply.

【Objective】 To investigate the influence of different packaging methods on the volume of low-dose(0.5 U) suspended leucocyte depleted red blood cells(SLD RBC) and provide reference for accurate labeling. 【Methods】 Bags of SLD RBC in 1.5 U and 2 U were randomly sampled to measure the weight and specific gravity of each bag, so as to estimate the blood volume.The relationship between the weight and volume of 0.5 U blood, split from different parent bags, was analyzed and the linear regression equation was put forward.The regression equation was used to calculate and analyze the difference in the volume of 0.5 U SLD RBC prepared by three different packaging methods (A: manual multi-bag average packing; B: instrument multi-bag average packing; C: manual single-bag packing) in actual work. 【Results】 The specific gravity of 1.5 U (38 bags) and 2 U SLD RBC (39 bags) were (1.090±0.011) g/mL and (1.097±0.013) g/mL, respectively, and the difference was statistically significant (P<0.05). After the 0.5 U subsidiary bags were split from the parent bags(1.5 U or 2 U), the regression equations for the volume (Y) of 0.5 U and gross weight (X) of the whole bag were respectively: Y1.5 U packing=0.902 7X-12.52 (P<0.05) and Y2 U packing=0.905 6X-13.15(P<0.05). In actual blood packaging, the average blood volume of 0.5 U subsidiary bags split from 1.5 U bag, using method A and B, were smaller than those split from 2 U bag [(62.12±5.38) mL and (62.50±6.77) mL vs (67.72±3.81) mL and(68.39±6.44)mL] (P<0.05), with the deviation of low-dose blood volume from 5.593 mL to 5.887 mL.The volume deviation by method B (10.84% and 9.42%) were greater than that by method A (8.67% and 5.63%). The average volume of 0.5 U subsidiary bags split from 1.5 U and 2 U by method C were (65.49±1.72) mL and (64.99±1.91) mL (P>0.05), with volume deviation at 2.63% and 2.94%, respectively.The mean volume value of overall 0.5 U blood (n=483) was (65.35±5.34) mL. 【Conclusion】 For packaging 0.5 U subsidiary bags, the instrument multi-bag packaging showed the largest volume deviation, followed by the manual multi-bag packaging and the single-bag packaging.The volume labeling of low-dose SLD RBC should be established, according to the specifications of parent bags and specific gravity.