Objective To quantify the correlations between Elekta XVI cone beam CT dose and various scanning protocols,providing mathematical models to assess the protocol-dependency of imaging dose during imnage guided radiotherapy.Methods Based on standard protocols and various combinations of kVp and mA on an XVI mounted on an Elekta Versa HD accelerator,the air KERMA was measured at various positions in a standard PTW CTDI body phantom using calibrated PTW 30009 kV chamber and UNIDOS webline electrometer.Weighted CT dose index (CTDIw) was computed thereafter.SigmaPlot 10.0 was used to fit the measurements against mA and/or kVp yielding empirical functions.Results Under standard protocols,the CTDIw of Varian OBI was only 11.23％ (chest) and 9.15％ (pelvis) of Elekta XVI.Using the default and other 4 investigated kVp values,the central and peripheral KERMA were both proportional to mA,and vet the slope value a varied dramatically from 0.479 to 6.679.Major affecting factors included kVp settings,measurement locations,and dosimetric mnetrics,etc.None linear regressions were used to fit kVp against KERMA at various locations and CTDIw (R2 ＞ 0.997).The differences between all coefficients were statistically significant (P ＜ 0.05).The impact of changing both mA and kVp on the dose to phantom center can be described as mGy =(5.917-0.197 ×kVp+0.002 × kVp2-5.063 × 10-6 × kVp3) × mA.Conclusions Imaging dose of Elekta XVI is strongly dependent on scanning paraneters.The proposed mathematical models can be used as efficient and robust indicators of such dependency.

Objective To use thermoluminescense dosimeters (TLDs) to evaluate the radiation doses to various critical organs in the computerized imaging reference systems (CIRS) 5 years old pediatric anthropomorphic phantom result ing from Varian kilovohage cone beam CT (kV-CBCT) system based on the standard scanning protocols.Effective dose were also calculated based on dose measurement.Methods A batch of TLDs with consistency no larger than 2％ were selected and annealed.First,the doses in an anthropomorphic pelvic phantom were measured using a CT chamber and TLDs,respectively,based on the standard pelvic protocols.The ratio of the both measurements is the TLD conversion coefficient.Other TLDs from the same batch were placed between two tissue-equivalent inserts and placed into the pre-drilled organ cavities of the pediatric phantom.By using standard protocols,the organs dose were measured,based on which the corresponding effective doses were calculated.Results The TLD conversion coefficient was 3.91 mGy/per reading.By using the standard head,low-dose thorax,pelvis protocol,the whole body effective dose was 0.63,6.85 and 19.3 mSv,respectively.Conclusions It is feasible for using the CT chamber-calibrated TLDs to measure the radiation doses from kV-CBCT to pediatric anthropomorphic phantom.The effective dose in pelvic protocol was higher than in thorax and head protocol,indicating that the pelvic protocol has a penitential to lead to larger radiation damage and higher risk of secondary cancer.

Objective:To identify 3 the disease-causing genes and mutations of Leber congenital amaurosis (LCA), and to study the correlation of phenotype and genotype.Methods:A retrospective study. Four LCA patients and seven family members who were diagnosed by eye examination in Ning Xia Eye Hospital of People's Hospital of Ningxia Hui Autonomous Region from January to December 2021 were included in the study. Four patients were from 3 unrelated families. Detailed collection of medical history and family history were received. Related ophthalmologic examination were collected and genomic DNA was extracted from peripheral blood. Whole-exome sequencing method was used for genetic diagnosis. The identified variant was confirmed with Sanger sequencing. Potential pathogenic mutation was analyzed using software and conserved domain analysis and performed co-separated analysis between the family member and the proband.Results:Of the 4 patients, 1 patient was males and 3 patients were females; the age was from 4 to 18 years. Nystagmus were seen in 3 cases, finger pressing eyes and night blindness was seen in 1 cases; electroretinogram showed 4 cases of extinction or near extinction. The foveal reflection was visible in all eyes, and there was no obvious abnormality in the peripheral retina. One eye had strong reflection signal with raised ellipsoid in macular area; two eyes had weak reflection signal faintly visible between retinal layers; 1 eye had increased blood vessel branches, peripheral retinal non-perfusion area with capillary leakage; annular strong autofluorescence in macular area 4 eyes. No obvious abnormality was found in the phenotypes of family members. Genetic testing showed that the proband of pedigree 1 (Ⅱ-1) was found a homozygous missense mutation in c.640A>T (p.C214S) (M1) of PRPH2 gene. The proband of pedigree 2 (Ⅱ-2) was found compound heterozygous mutation in c.1256G>A(p.R419Q) (M2) and c.1A>C (p.M1L) (M3) of TULP1 gene. The proband 3 (Ⅱ-1) and her sister (Ⅱ-2) were both found compound heterozygous mutation in c.1943T>C (p.L648P) (M4) and c.380C>T (p.P127L) (M5) of GUCY2D gene. The parents and sister (Ⅱ-1) of the proband in family 2 and the parents of the proband in family 3 were all carriers of the corresponding heterozygous variant. M1, M3, M4, M5 were novel mutations and unreported. The genotype and disease phenotype were co-segregated within the family. According to the analysis of pedigree and genetic testing results, all 3 families were autosomal recessive inheritance. The amino acid conservation analysis found that M1, M2, M3, M4, and M5 were highly conserved among species. The results of bioinformatics analysis were all pathogenic variants. Conclusions:PRPH2 gene M1, TULP1 gene M3, and GUCY2D gene M4, M5 were novel mutations and not been reported in the literature and database. This research expanded the gene mutation spectrum of LCA. The patients with LCA have available characterristics, including onset age, varying ocular fundus and severe visual impairment.

Zn²⁺ is required for the activity of many mitochondrial proteins, which regulate mitochondrial dynamics, apoptosis and mitophagy. However, it is not understood how the proper mitochondrial Zn²⁺ level is achieved to maintain mitochondrial homeostasis. Using Caenorhabditis elegans, we reveal here that a pair of mitochondrion-localized transporters controls the mitochondrial level of Zn²⁺. We demonstrate that SLC-30A9/ZnT9 is a mitochondrial Zn²⁺ exporter. Loss of SLC-30A9 leads to mitochondrial Zn²⁺ accumulation, which damages mitochondria, impairs animal development and shortens the life span. We further identify SLC-25A25/SCaMC-2 as an important regulator of mitochondrial Zn²⁺ import. Loss of SLC-25A25 suppresses the abnormal mitochondrial Zn²⁺ accumulation and defective mitochondrial structure and functions caused by loss of SLC-30A9. Moreover, we reveal that the endoplasmic reticulum contains the Zn²⁺ pool from which mitochondrial Zn²⁺ is imported. These findings establish the molecular basis for controlling the correct mitochondrial Zn²⁺ levels for normal mitochondrial structure and functions.
Animals ; Caenorhabditis elegans/metabolism* ; Cation Transport Proteins/genetics* ; Homeostasis ; Mitochondria/metabolism* ; Zinc/metabolism*