Objective According to the clinical and gene mutation characteristics of ACADVL-related very long chain acyl-CoA dehydrogenase deficiency(VLCADD),the types that contribute to the gene mutation of ACADVL were summarized.Methods By analyzing clinical,laboratory and genetic data of 1 case with ACADVL-related very long chain acyl-CoA dehydrogenase deficiency diagnosed from Department of Pediatrics,the Affiliated Hospital of Inner Mongolia Medical University in August 2016,based on the agreement signed by both the litde patient's parents and the hospital,plus the high-throughput sequencing analysis and PCR sequencing test for the 2 generation genes,some presented mutation sites were analyzed and concluded,in addition to taking "ACADVL" as key words to search the databases from CNKI,Wanfang(updated in 2016) as well as PubMed and related documents from On-line Mendal Inheritant databases of Man (OMIM) and HGMD.Results Through physical examination,VLCADD was diagnosed.After being given Levocamitine and the diet likemedium-chain fatty acid food for a week,the metabolism returned to normal.Tracking him for 3 months,his hepatitis obviously rebounded,within the reach of 3 cm under the right rib and 1 cm under the xiphoid.The exome sequencing study (trios) was identified the novel heterozygous mutation according to the statistics below A CAD VL (N M_000018.3) Exon7:c.608 C ＞ T;p.(Pro203 Leu) (heterozygous) and A CAD VL (NM _000018.3) Exon18:c.1748C ＞ T;p.(Ser583Leu) (heterozygous) in ACADVL.Relevant literature reported suggest these two mutations from both the parents are pathogenic genes,which can account for the reason why the boy got ill.However,these two mutations had not been reported in ACADVL-related VLCADD so far.Up to now,73 types of mutations from documents index were related to the VLCADD,but the clinical case included 75 kinds of gene mutations.Conclusions The apparent symptoms of the boy with the gene mutation were reflected in abnormal heart rates,hepatomegaly and hypoglycemia.VLCADD was diagnosed through genetic testing,and systematic treatment can partly control the development of the disease.In conclusion,the findings (exon 7 and 18) show that according to the genetic tests,disease-causing genes from both parents are new mutations of ACADVL and they are pathogenic.

Objective:To investigate the prevalence of cataracts, the surgical coverage, and postoperative visual acuity of adults in Ningxia.Methods:A cross-sectional study using multistage cluster random sampling was conducted.Ten survey sites in Ningxia were selected and the population aged 18 years and over was surveyed with questionnaire, height and weight measurements, visual acuity, intraocular pressure, fundus photography and slit-lamp examinations.Cataract prevalence and its influencing factors were analyzed.Cataract prevalence, surgical coverage and presenting visual acuity (PVA) and best corrected visual acuity (BCVA) after surgery were investigated in different age groups of the examined population.The study adhered to the Declaration of Helsinki and was approved by the Ethics Committee of the People's Hospital of Ningxia Hui Autonomous Region (No.[2023]-LL-010).Participants signed informed consent prior to the examination.Results:A total of 6 145 people should be examined, and 5 721 people were actually examined, with an examination rate of 93.10%.The study population consisted of 2 558 males, accounting for 44.71%, and 3 163 females, accounting for 55.28%, with ages ranging from 18 to 93 years old and an average age of (64.27±13.48) years.Among them, 1 180 patients diagnosed with cataract, with a cataract prevalence of 20.62%.The prevalence of cataract increased with age and decreased with education level, showing statistically significant differences ( χ2=1 091.32, 581.92; both at P<0.01).The prevalence of cataract was significantly higher among people with hypertension, diabetes mellitus, hyperlipidemia, and coronary heart disease than those without these diseases ( χ2=274.65, 118.15, 78.05, 182.71; all at P<0.01).Cataract surgery was performed in 245 cases in the cataract patient population, with a surgical coverage rate of 20.76%.Of the 245 cases, 229 cases were implanted with IOLs, with an implantation rate of 93.40%.The social burden rate of cataract blindness was 2.29%, and increased with age.Of the 339 eyes that underwent cataract surgery, 241 had a PVA≥0.3, accounting for 71.09%, and 272 had a BCVA≥0.3, accounting for 80.24%. Conclusions:In Ningxia, cataracts are still the main cause of vision impairment and blindness in the elderly, and the social burden rate of cataract blindness is high.Moreover, the coverage rate of cataract surgery is low, so both the coverage and quality of surgery need improvement.