ABSTRACT
Purpose@#To identify the predictors of infectious disease-specific health literacy (IDSHL), and establish an easy-to-apply nomogram to predict the IDSHL of older adults. @*Methods@#This cross-sectional study included 380 older adults who completed the IDSHL, self-rated health, socio-demographic and other questionnaires. Logistic regression was used to identify the IDSHL predictors. Nomogram was used to construct a predictive model. @*Results@#Up to 70.1% of older adults had limited IDSHL. Age, education, place of residence, self-rated health, and Internet access were the important influencing factors of IDSHL. The established nomogram model showed high accuracy (receiver operating characteristic curve: 0.848). @*Conclusions@#The IDSHL of Chinese older adults was significantly deficient. The constructed nomogram is an intuitive tool for IDSHL prediction that can not only contribute toward rapid screening of high-risk older adults with limited IDSHL but also provide guidance for healthcare providers to develop prevention strategies for infectious diseases.
ABSTRACT
OBJECTIVE@#To analyze the clinical phenotype and results of genetic testing in three children with Cornelia de Lange syndrome (CdLS).@*METHODS@#Clinical data of the children and their parents were collected. Peripheral blood samples of the pedigrees were collected for next generation sequencing analysis.@*RESULTS@#The main clinical manifestations of the three children have included growth delay, mental retardation, peculiar facies and other accompanying symptoms. Based on the criteria proposed by the International Diagnostic Consensus, all three children were suspected for CdLS. As revealed by whole exome sequencing, child 1 has harbored NIPBL gene c.5567_5569delGAA insTAT missense variant, child 2 has harbored SMC1A gene c.607A>G missense variant, and child 3 has harbored HDAC8 gene c.628+1G>A splicing variant. All of the variants were de novo in origin.@*CONCLUSION@#All of the children were diagnosed with CdLS due to pathogenic variants of the associated genes, among which the variants of NIPBL and HDAC8 genes were unreported previously. Above finding has enriched the spectrum of pathogenic variants underlying CdLS.
Subject(s)
Humans , Cell Cycle Proteins/genetics , De Lange Syndrome/diagnosis , Genotype , Phenotype , Genetic Testing , Histone Deacetylases/genetics , Repressor Proteins/geneticsABSTRACT
OBJECTIVE@#To analyze the clinical phenotype and genetic basis for a child with acute form of tyrosinemia type I (TYRSN1).@*METHODS@#A child with TYRSN1 who presented at the Gansu Provincial Maternal and Child Health Care Hospital in October 2020 was selected as the subject. The child was subjected to tandem mass spectrometry (MS-MS) and urine gas chromatography-mass spectrometry (GC-MS) for the detection of inherited metabolic disorders, in addition with whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing.@*RESULTS@#The child's clinical features included abdominal distension, hepatomegaly, anemia and tendency of bleeding. By mass spectrometry analysis, her serum and urine tyrosine and succinylacetone levels have both exceeded the normal ranges. WES and Sanger sequencing revealed that she has harbored c.1062+5G>A and c.943T>C (p.Cys315Arg) compound heterozygous variants of the FAH gene, which were inherited from her father and mother, respectively. Among these, the c.943T>C was unreported previously.@*CONCLUSION@#Considering her clinical phenotype and result of genetic testing, the child was diagnosed with TYRSN1 (acute type). The compound heterozygous variants of the FAH gene probably underlay the disease in this child. Above finding has further expanded the spectrum of FAH gene variants, and provided a basis for accurate treatment, genetic counseling and prenatal diagnosis for her family.
Subject(s)
Female , Humans , Child , Gas Chromatography-Mass Spectrometry , Genetic Testing , Mutation , Phenotype , Prenatal Diagnosis , Tyrosinemias/geneticsABSTRACT
OBJECTIVE@#To explore the clinical features and genetic basis for a child with 3-methylglutaconic aciduria type VII.@*METHODS@#A child who was diagnosed at the Gansu Provincial Maternity and Child Health Care Hospital on August 9, 2019 was selected as the study subject. Clinical data of the child, including urine gas chromatography and mass spectrometry, were collected. The child and her parents were subjected to whole exome sequencing.@*RESULTS@#The child, a female neonate, had presented mainly with intermittent skin cyanosis, convulsions, hypomagnesemia, apnea, neutropenia after birth. Her urine 3-methylpentenedioic acid has increased to 17.53 μmol/L. DNA sequencing revealed that she has harbored compound heterozygous variants of the CLPB gene, namely c.1016delT (p.L339Rfs*5) and c.1087A>G (p.R363G), which were respectively inherited from her mother and father. Both variants were unreported previously. Based on the standards from the American College of Medical Genetics and Genomics (ACMG), the variants were respectively predicted to be pathogenic and likely pathogenic.@*CONCLUSION@#The child was diagnosed with 3-methylglutenedioic aciduria type VII. Discovery of the c.1016delT and c.1087A>G variants has enriched the mutational spectrum of the CLPB gene.
Subject(s)
Female , Humans , Infant, Newborn , Pregnancy , Base Sequence , Metabolism, Inborn Errors/diagnosis , Mutation , Neutropenia/genetics , Sequence Analysis, DNAABSTRACT
In recent years, the artificial intelligence machine learning and deep learning technology have made leap progress. Using clinical decision support system for auxiliary diagnosis and treatment is the inevitable developing trend of wisdom medical. Clinicians tend to ignore the interpretability of models while pursuing its high accuracy, which leads to the lack of trust of users and hamper the application of clinical decision support system. From the perspective of explainable artificial intelligence, the authors make some preliminary exploration on the construction of clinical decision support system in the field of liver disease. While pursuing high accuracy of the model, the data governance techniques, intrinsic interpretability models, post-hoc visualization of complex models, design of human-computer interactions, providing knowledge map based on clinical guidelines and data sources are used to endow the system with interpretability.
ABSTRACT
Objective:To observe and determine the gene mutation site and clinical phenotype of a NDP gene mutant family, and provide a basis for the prenatal diagnosis of offspring. Methods:A pedigree investigation study. Two patients and 6 family members of a third-generation Han family with NDP gene mutation who were admitted to the Maternal and Child Health Hospital of Gansu Province from July 2019 to December 2021 were included in the study. The patients and their parents underwent the examination of pupil light reflex, strip light imaging, visual acuity evaluation, fundus color photography, and wide-field fluorescein fundus angiography (FFA). Peripheral blood of all the subjects was collected, the pathogenic genes were screened by whole exome sequencing, and NDP genes were detected by amplification of multiple ligated probes. DNA prenatal diagnosis was performed by amniocentesis at 19th weeks of the mother's third gestation. Results:Proband (Ⅲ1), male, 4 years old, full term natural delivery. At about 40 days after birth, B-mode ultrasonography indicated total retinal detachment in both eyes. Normal hearing and intelligence. Fundus examination was not performed. First sibling of proband (Ⅲ2, big younger brother), ophthalmologic examination 30 days after birth, retinal detachment in both eyes. Proband's mother (Ⅱ2) had unvascularized peripheral temporal retina in both eyes. Wide-angle FFA examination showed no vascularization of the peripheral temporal retina in both eyes, and slight leakage of peripheral vascular fluorescein. The proband's second sibling (Ⅲ3, little younger brother) was screened for neonatal eye disease 1 day after birth. No abnormalities were observed outside both eyes. Cornea and lens transparent. No abnormalities were observed in the optic disc and macula in both eyes. No vascular curvature was observed in the peripheral retina. The results of gene detection showed that there was hemizygote deletion in exon 2 of NDP gene of the proband (Ⅲ1) and its big younger brother (Ⅲ2). His mother (Ⅱ2) had heterozygosity deletion in exon 2 of NDP gene. The phenotype and genetic test results of the proband's father (Ⅱ1), uncle (Ⅱ3), maternal grandfather (Ⅰ1) and maternal grandmother (Ⅰ2) were not abnormal. Conclusions:The hemizygote deletion in exon 2 of NDP gene is a pathogenic variation in the native family. The clinical phenotypes of different genders are different. Prenatal diagnosis is an effective way to block hereditary diseases in families.
ABSTRACT
Objective:To investigate the alterations of brain functional network related to disease progression in patients with temporal lobe epilepsy (TLE) and the potential neural mechanism of executive dysfunction.Methods:Nineteen temporal lobe epilepsy patients with a disease course of less than or equal to 5 years (TLE-SD group) and 24 temporal lobe epilepsy patients with a disease course of more than 5 years (TLE-LD group) were recruited from the Epilepsy Clinic of the First Affiliated Hospital of Guangxi Medical University from December 2019 to December 2021. At the same time, 21 healthy control individuals (healthy control group) were recruited from the society and matched with gender, age, and education level. All subjects were evaluated demographic and clinical data, and performed resting state functional magnetic resonance imaging (rs-fMRI) and attention network test (ANT). The topological properties of functional brain network of 3 groups of subjects were calculated using graph theory, and then the hubs were determined. Then the inter-group comparison of hubs properties was carried out, and the correlation analysis with executive control function was performed.Results:The distribution pattern of hub nodes in TLE-SD patients was changed. Compared with the TLE-LD and healthy control groups, the TLE-SD group significantly increased the nodal degree values in brain regions such as the ventrolateral area of the left middle frontal gyrus, the left anterior central gyrus (upper limb area), the cephalic and caudal areas of the left parietal lobule, as well as the inner parietal lobe area, the caudal side of the right parietal lobule, and the right lateral occipital cortex. The nodal values of the brain areas such as the lateral and parietal inner area, the caudal side of the right upper upper lobule, and the right lateral occipital cortex were significantly increased. TLE-SD patients had a significant increase in the middle of the right upper frontal gyrus and the head of the left upper upper lobule. The node efficiency was significantly lower than that of TLE-LD patients, and the node efficiency in the middle of the right upper frontal gyrus was significantly lower than that of the healthy control group. The node network attributes of the left upper lobe were positively correlated with the execution control efficiency, and negatively correlated with the orientation efficiency. No significant difference was detected between TLE-LD patients and healthy controls.Conclusions:In TLE patients, the hubs in the middle of the right superior frontal gyrus were first damaged, and new hubs appeared in the dorsal attention network, the left anterior central gyrus and the right occipital lobe and were overloaded. With the progression of the disease, hubs tended to be redistributed to normality. The left superior parietal lobule may play an important role in the impairment of executive control function in TLE patients.
ABSTRACT
【Objective】 To explore a RhD negative blood collection and supply mode suitable for Liaocheng area and improve the blood demand satisfaction rate of RhD negative patients. 【Methods】 Under different collection and supply modes (collection mode: in 2020, not advocate walk-in donation by RhD negative repeat blood donors, but in 2021 and 2022 were the opposite; supply mode: in 2020, type A, B, O and AB RBCs were frozen within 6 days of blood collection without inventory, but in 2021 and 2022, they were stored of 2-6 U and the remaining were frozen within 6 days of blood collection), RhD negative blood was divided into Type A, B, O and AB, appointment donation and walk-in donation, first donation and repeat donation, cold storage red blood cells(RBCs), frozen RBCs and frozen thawed deglycerolized RBCs, and the collection and supply data of each observation group from 2020 to 2022 were compared. Based on whether blood demand of RhD negative patients was met, the patients were divided into the group of going to other places for medical treatment, the group of RhD positive blood transfusion and the group of RhD negative blood transfusion to analyze the blood usage. 【Results】 From 2020 to 2022, the proportion of RhD negative blood donated by repeat appointment donors decreased year by year (P<0.05); the proportion of RhD negative blood donated by repeat walk-in donors increased year by year (P<0.05); the proportion of frozen thawed deglycerolized RBCs to RhD negative RBCs increased year by year (P<0.05); the proportion of cold storage RBCs distributed as RhD negative and RhD positive decreased year by year respectively (P<0.05); the proportion of the increase in frozen RBCs inventory to the current year's frozen RBCs inventory decreased year by year (P<0.05). The satisfaction rate of blood demand of RhD negative patients increased year by year (P<0.05), with the number of patients with RhD positive blood transfusion and going to other places for medical treatment decreased year by year respectively(P<0.05). 【Conclusion】 In Liaocheng area, it is appropriate to encourage RhD negative blood donors to donate blood randomly, and A, B, O and AB type cold storage RBCs kept in 2-6 U inventory respectively. When exceeding the inventory, frozen RBCs are prepared within 6 days, which can improve the blood demand satisfaction rate of RhD negative patients and avoid sending excessive RhD negative RBCs to clinical use as RhD positive RBCs.
ABSTRACT
OBJECTIVE@#To explore the genetic etiology for a fetus with Walker-Warburg syndrome(WWS).@*METHODS@#A fetus with WWS diagnosed at Gansu Provincial Maternity and Child Health Care Hospital in June 9, 2021 was selected as the study subject. Genomic DNA was extracted from amniotic fluid sample of the fetus and peripheral blood samples from its parents. Trio-Whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The fetus was found to harbor compound heterozygous variants of the POMT2 gene, namely c.471delC (p.F158Lfs*42) and c.1975C>T (p.R659W), which were respectively inherited from its father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), they were respectively rated as pathogenic (PVS1+PM2_Supporting+PP4) and likely pathogenic (PM2_Supporting+PM3+PP3_Moderate+PP4).@*CONCLUSION@#Trio-WES may be used for the prenatal diagnosis of WWS. The compound heterozygous variants of the POMT2 gene probably underlay the disorder in this fetus. Above finding has expanded the mutational spectrum of the POMT2 gene and enabled definite diagnosis and genetic counseling for the family.
Subject(s)
Pregnancy , Child , Female , Humans , Walker-Warburg Syndrome , Prenatal Diagnosis , Fetus , Genetic Counseling , Genomics , MutationABSTRACT
Bioinformatics is an interdisciplinary science that combines the tools of mathematics, computer science, and biology to clarify and explore the biological implications of large amounts of biological data. With the continuous development of genome sequencing technology, a large number of biological data has been generated, and mining of the biological significance contained in big data has become one of the main tasks that need to be solved urgently. This article summarizes the risk prediction models for hepatocellular carcinoma (HCC) based on feature genes, so as to provide new perspectives for early identification, prognosis, and treatment optimization of HCC.
ABSTRACT
Deep learning is a process in which machine learning obtains new knowledge and skills by simulating the learning behavior of human brain through massive data training and analysis. With the development of medical technology, a large amount of data has been accumulated in the medical field, and the research on data may help to understand the relationships and rules within data and predict the onset and prognosis of human diseases. Deep learning can find the hidden information in data and has been increasingly used in the medical field. Primary liver cancer is a malignant tumor with high incidence and mortality rates, poor prognosis, and a high recurrence rate, and early diagnosis, timely treatment, and prediction of recurrence have always been the research hotspots in recent years. This article reviews the advances in the application of deep learning in the diagnosis and recurrence of liver cancer from the aspects of risk prediction, postoperative recurrence, and survival risk prediction.
ABSTRACT
Alzheimer's disease (AD) is the most common cause of dementia. With population aging, AD has become one of the urgent public health problems worldwide. The retina as a " window" to the brain dysfunction. Studies based on optical coherence tomography/ optical coherence tomography angiography(OCT/OCTA) imaging technology have shown that retinal vascular and structure were significantly changed in patients with clinical and preclinical AD. The changes of retinal vascular and structure were also significantly correlated with cognitive scores, cerebral degeneration, and the decline of cognitive function. These findings suggest that ocular structure and vascular changes based on OCT/OCTA imaging can provide non-invasive, inexpensive and practical biomarkers for early diagnosis of AD. This article reviews the research status and limitations of retinal structure and vascular changes in AD based on OCT/OCTA, in order to provide new ideas and methods for early dingnosis of AD.
ABSTRACT
OBJECTIVE@#To carry out genetic analysis for 21 patients with methylmalonic acidemia (MMA) and provide genetic counseling for their families.@*METHODS@#Next generation sequencing (panel) was used to detect the pathogenic variants underlying the disease.@*RESULTS@#In total 29 variant sites of MMUT, MMAA, MMUT were identified in the 21 patients, with common variants including c.323G>A (10%), c.917C>T (10%), c.984delC (10%) of MMUT gene, and c.609G>A (45%), c.80A>G (10%) , c.567dupT (10%) of MMACHC gene. Among these, c.2000A>G of MMUT, c.298G>T of MMACHC and c.734-7A>G of MMAA gene were unreported previously.@*CONCLUSION@#Genetic testing for MMA patients can clarify the cause of the disease and provide a basis for the clinical diagnosis. Discovery of novel variants has enriched the mutational spectrum of MMA.
Subject(s)
Humans , Amino Acid Metabolism, Inborn Errors/genetics , Genetic Testing , High-Throughput Nucleotide Sequencing , Mutation , Oxidoreductases/geneticsABSTRACT
In recent years, cerebral small vessel disease (CSVD) has brought great challenges to society and family, and has attracted increasing attention. Early detection and prevention of CSVD is of great significance. Retinal microvasculature is the only terminal blood vessel that can be observed in vivo and can be used as a portal for observation of brain small vessel-related diseases. In this paper, pathophysiology, quantitative and qualitative analysis were used to review the correlation between fundus lesions and CSVD, and further explore the future research direction.
ABSTRACT
Objective:To summarize the clinical characteristics of patients with coronavirus disease 2019 (COVID-19) infected with Delta variant, so as to provide further references for clinical diagnosis and treatment.Methods:A real-world study was conducted to analyze the characteristics of 166 COVID-19 patients infected with Delta variant at Guangzhou Eighth People’s Hospital, Guangzhou Medical University.Results:The study enrolled 5 asymptomatic cases, 123 non-severe cases (mild and moderate type), and 38 severe cases (severe and critical type). Among these patients, 69 (41.6%) were male and 97 (58.4%) were female, with a mean age of 47.0±23.5 years. Thirty-nine cases (23.5%) had received 1 or 2 doses of inactivated vaccine. The incidence of severe COVID-19 cases was 7.7% in 2-doses vaccinated patients, which was lower than that of 11.5% in 1-dose and 26.8% in unvaccinated patients. The proportion of severe cases in 2 dose-vaccinated patients was 7.7%, which was lower than that of 11.5% in 1-dose vaccinated patients and 26.8% in unvaccinated patients, but the difference was not significant ( P>0.05). The most common clinical symptom was fever (134 cases, 83.2%), and 39.1% of cases presented with high-grade fever (≥39 °C); other symptoms were cough, sputum, fatigue, and xerostomia. The proportion of fever in severe cases was significantly higher than that of non-severe cases (97.4% vs. 76.4%, P<0.01). Similarly, the proportion of severe cases with high peak temperature (≥39 ℃) () was also higher than that of non-severe cases (65.8% vs. 30.9%, P<0.01). The median minimal Cycle threshold (Ct) values of viral nucleic acid N gene and ORFlab gene were 20.3 and 21.5, respectively, and the minimum Ct values were 11.9 and 13.5, respectively. Within 48 h of admission, 9.0% of cases presented with decreased white blood cell counts, and 52.4% with decreased lymphocyte counts. The proportions of increased C-reactive protein, serum amyloid A, interleukin 6, and interleukin 10 were 32.5%, 57.4%, 65.3%, and 35.7%, respectively. The proportions of elevated C-reactive protein, serum amyloid A and interleukin-6 in severe cases were significantly higher than those in non-severe cases ( P<0.01). Logistic regression analysis showed that older age and higher peak temperature were associated with a higher likelihood of severe cases ( OR>3, 95% CI: 2-7, P<0.01). In terms of treatment, traditional Chinese medicine (TCM) was used in 97.6% of non-severe cases and 100% in severe cases. Other treatments included respiratory and nutritional support, immunotherapy (such as neutralizing antibodies and plasma of recovered patients). The median times from admission to progression to severe cases, of fever clearance, and of nucleic acid conversion were 5 days, 6 days and 19 days, respectively. No deaths were reported within 28 days. Conclusions:The symptoms of Delta variant infection in Guangzhou are characterized by a high proportion of fever, high peak temperature, long duration of fever, high viral load, a long time to nucleic acid conversion, and a high incidence of severe cases. The severe cases exhibit a higher percentage of elderly patients, a longer duration of fever and have a higher fever rate and a higher hyperthermia rate than non-severe cases. Age and hyperthermia are independent risk factors for progression to severe disease. The combination of TCM and Western medicine can control the progression of the disease effectively.
ABSTRACT
Objective:To understand the status and association of health literacy and self-management ability of hypertensive patients in the community and to provide reference for further intervention research.Methods:From June 2019 to October 2019, a random number table method was used to randomly select multiple streets or towns/townships, and then 401 residents in the community or village aged above 18 years of age diagnosed as hypertension were selected as the subjects of this study. The general data questionnaire, high blood pressure-health literacy scale into Chinese(C-HBP-HLS) and hypertension patients self-management behavior rating scale(HPSMBRS)were used to conduct one-to-one field survey. SPSS 24.0 was used to analyze the scores of health literacy and self-management behavior of patients with hypertension. SAS 9.4 was used to analyze the canonical correlation between health literacy and self-management behavior of patients with hypertension.Results:The score of health literacy and self-management ability were (38.94±17.56) points and (129.45±16.53) points, respectively.The results of canonical correlation analysis showed that the canonical correlation coefficient between health literacy and self-management behavior reached 0.57, which was mainly reflected in the great correlation between " drug label" and " diet management" .Conclusion:Attention should be paid to the positive effect of health literacy on self-management ability, and further intervention research should take the " drug label" and " written health literacy" dimensions of health literacy as entry points to effectively improve the self-management ability of hypertension patients in the community.
ABSTRACT
Objective:To investigate the pathogenic gene locus and prenatal genetic diagnosis of 54 families with oculocutaneous albinism (OCA).Methods:This retrospective study enrolled 54 OCA probands and their families from Gansu Province Maternal and Child Health Care Hospital from May 2014 to May 2020. TYR gene variation screening was performed on the probands by Sanger sequencing. Those with negative results were analyzed by high-throughput sequencing, and further verification was performed on their parents by Sanger sequencing. Among the 54 families, 15 ml amniotic fluid were collected from 16 women at 18-21 gestational weeks in their subsequent pregnancy. Sanger sequencing combined with short tandem repeats sequence for linkage analysis were performed for genetic analysis. All data were analyzed using descriptive statistical analysis. Results:Out of the 54 OCA probands, 48 were diagnosed as OCA1, five were OCA2 and one was OCA4 based on the Sanger sequencing and high-throughput sequencing detection. A total of 26 different variation sites were involved in the 48 OCA1 probands, including 15 missense mutations, five nonsense mutations, three splicing mutations, and three frame-shift mutations, among which, c.929insC (29%, 28/96) was the most frequent mutation, followed by c.896G>A (11%, 11/96), c.832C>T (8%, 8/96) and c.703T>C (5%, 5/96). The diagnosis was confirmed in all 16 fetuses in the 16 families that underwent prenatal diagnosis. Five of them were affected and their mothers chose to terminate the pregnancies, the other 11 pregnancies continued to delivery, including seven heterozygous carriers and four fetuses without the same pathogenic allele as the proband. Maternal contamination was excluded in all prenatal samples using short tandem repeat for linkage analysis. All 11 children were in good health during telephone follow-up one month after birth. Postnatal validations were consistent with the prenatal tests.Conclusions:Genetic diagnosis could accurately identify various types of OCA and help to provide prenatal diagnosis and fertility consultation for subsequent pregnancies.
ABSTRACT
Objective:To explore the patterns and causes of occupational exposure to infectious diseases (OEID) among frontline medical staffs (FMS) in coronavirus disease 2019 (COVID-19) isolation wards (CIW), and the particularity of post-OEID management and the measures to prevent OEID.Methods:A total of 1 061 FMS of Wuhan Huoshenshan Hospital from February 4 to March 21, 2020 were enrolled. The OEID of FMS was investigated and analyzed from the perspectives of FMS physical and psychological conditions, protective equipment, infection-control related regulations and procedures, local air quality, exposure patterns, and the particularity of emergency treatment after exposure.Results:The incidence of OEID among FMS was 2.0%(21/1 061). The nurses and doctors accounted for 95.2%(20/21) and 4.8%(1/21), respectively. The incidences in 17 general wards and two intensive care units (ICU) were 71.4%(15/21) and 28.6%(6/21), respectively. Nearly 90.5%(19/21) and 9.5%(2/21) of the OEID events occurred in contaminated area and potential contaminated area, respectively. About 23.8%(5/21) of the OEID events were air exposure of oral-nasal skin, mucosa and respiratory tract, which was secondary to uncontrollable vomiting, and 76.2%(16/21) were pricking injuries. The inducement factors involved poor quality and inappropriate wearing of some goggles, atomization of the inside of goggles leading to blurring vision, chest distress and decreased sense of touch and operational flexibility related to level-3 protection equipment, poor air quality, FMS physical and psychological conditions, etc. Under the direction of "the Procedures for Handling OEID" , all incidents are properly handled and no FMS was infected by 2019 novel coronavirus and blood-borne pathogens. No new OEID event was found after the strict implement of set of preventive measures.Conclusions:The OEID among FMS in CIW is attributed to multiple causes. The optimized process that takes into account the specificity of OEID management for both COVID-19 and blood-borne infectious diseases can effectively prevent potential post-exposure infections. And reasonable precautions can fully reduce the risk of OEID of FMS in CIW.
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with concomitant spinal muscular atrophy (SMA) and Citrin protein deficiency.@*METHODS@#The child was subjected to whole exome sequencing by using target sequence capture high-throughput sequencing. Candidate variants were verified by Sanger sequencing. The SMN genes of the patient were also analyzed through multiplex ligation-dependent probe amplification (MLPA).@*RESULTS@#The patient was found to carry homozygous deletion of exons 7 and 8 of the SMN1 gene, for which his parents were both carriers. The patient also carried compound heterozygous variants c.1737G>A and IVS16ins3kbof the SLA25A13 gene, in addition with compound heterozygous variants c.948G>A and c.2693T>C of the POLG gene, for which his parents were carriers, too.@*CONCLUSION@#Variants of the SLC25A13 gene probably underlay the deficiency of Citrin protein, which may lead to neonatal intrahepatic cholestasis (NICCD). The patient also had SMA. The compound heterozygous variants c.948G>A and c.2693T>C of the POLG gene are likely to cause mitochondrial DNA deletion syndrome type 4A, though other types of mitochondrial disease cannot be excluded.
ABSTRACT
OBJECTIVE@#To identify mutation of the PAX6 gene in a patient with congenital aniridia.@*METHODS@#DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing.@*RESULTS@#The proband was found to harbor a heterozygous c.239T>A (p.Ile80Asn) mutation of the PAX6 gene. The same mutation was not found in his parents and 150 healthy controls.@*CONCLUSION@#A novel mutation of the PAX6 gene has been identified in a sporadic case with congenital aniridia.