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Health information sharing has become especially important during the COVID-19 (coronavirus disease 2019) pandemic because people need to learn about the disease and then act accordingly. This study examines the perceived trust of different COVID-19 information sources (health professionals, academic institutions, government agencies, news media, social media, family, and friends) and sharing of COVID-19 information in China. Specifically, it investigates how beliefs about sharing and emotions mediate the effects of perceived source trust on source-specific information sharing intentions. Results suggest that health professionals, academic institutions, and government agencies are trusted sources of information and that people share information from these sources because they think doing so will increase disease awareness and promote disease prevention. People may also choose to share COVID-19 information from news media, social media, and family as they cope with anxiety, anger, and fear. Taken together, a better understanding of the distinct psychological mechanisms underlying health information sharing from different sources can help contribute to more effective sharing of information about COVID-19 prevention and to manage negative emotion contagion during the pandemic.

Background: cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed. The purpose of this study is to investigate the clinical features of patients with late-onset cblC deficiency and explore diagnosis and management strategies around puberty.Results: This study included 56 patients (35 males and 21 females) with late-onset cblC deficiency who were admitted to our clinic between 2002 and September 2021. The diagnosis was confirmed by metabolic and genetic tests. The clinical and biochemical features, disease triggers, outcome, and associated genetic variants were examined. The onset age ranged from 10 to 20 years (median age, 12 years). Fifteen patients (26.8%) presented with symptoms after infection or sports training. Further, 46 patients (82.1%) had neuropsychiatric diseases; 11 patients (19.6%), cardiovascular diseases; and 6 patients (10.7%), pulmonary hypertension. Renal damage was observed in 6 cases (10.7%). Genetic analysis revealed 21 variants of the MMACHC gene in the 56 patients. The top five common variants detected in 112 alleles were c.482G > A (36.6%), c.609G > A (16.1%), c.658_660delAAG (9.8%), c.80A > G (8.0%), and c.567dupT (6.3%). Thirty-nine patients carried the c.482G > A variant. Among 13 patients who exhibited spastic paraplegia as the main manifestation, 11 patients carried c.482G > A variants. Six patients who presented with psychotic disorders and spastic paraplegia had compound heterozygotic c.482G > A and other variants. All the patients showed improvement after metabolic treatment with cobalamin, L-carnitine, and betaine, and 30 school-aged patients returned to school. Two female patients got married and had healthy babies.Conclusions: Patients with late-onset cblC deficiency present with a wide variety of neuropsychiatric symptoms and other presentations, including multiple organ damage. As a result, cb1C deficiency can easily be misdiagnosed as other conditions. Metabolic and genetic studies are important for accurate diagnosis, and metabolic treatment with cobalamin, L-carnitine, and betaine appears to be beneficial. [ABSTRACT FROM AUTHOR]

Background: Methylmalonic aciduria (MMA), a rare inherited disorder, is the most common organic aciduria in China, and prenatal diagnosis has contributed to its prevention. However, the prenatal diagnosis of MMA using cultured amniocytes or chorionic villi to detect gene mutations is exclusively applicable to families with a definite genetic diagnosis. To evaluate the reliability of mass spectrometry assays for the prenatal diagnosis of MMA, we conducted a retrospective study of our 10 years' experience. Materials and methods: This retrospective compare study reviewed the medical records for maternal and fetuses data for 287 mothers with a family history of MMA from June 2010 to December 2020. Methylmalonate and propionylcarnitine in cell-free amniotic fluid were measured using a stable isotope dilution method (GC/MS) and MS/MS-based method (LC/MS/MS). Total homocysteine (tHcy) was measured by fluorescence polarization immunoassay. Depending on the presence of disease-causing gene mutations in probands, gene studies on amniocytes from 222 pregnant women were performed. Results: For 222 fetuses of the families with definite genetic diagnosis, gene analyses were performed using cultured amniocytes. 52 fetuses were affected by MMA, whereas 170 were "unaffected". For GC/MS and LC/MS/MS, the specificity was 96.5% and 95.9%, sensitivity was 71.2% and 84.6%, respectively. The positive and negative predictive values were 86.0% and 91.6% and 86.3% and 95.3%, respectively. Propionylcarnitine/butyrylcarnitine ratio showed the highest accuracy and could thus serve as a sensitive indicator to identify those at a risk for MMA. When GC/MS and LC/MS/MS were performed in parallel, the specificity was 92.5% and sensitivity was 95.6%. When evaluating tHcy, the positive and negative predictive values were 95.0% and 96.1%, respectively. In 65 fetuses without family genetic diagnosis, 11 were finally confirmed to have MMA and 54 were "unaffected" by amniotic fluid biochemical assays. The 54 children showed normal urine organic acids and healthy development after birth. Conclusions: Amniotic fluid biochemical assays using GC/MS and LC/MS/MS in parallel increased the accuracy of prenatal diagnosis of MMA. Propionylcarnitine is a more reliable marker than methylmalonic acid in amniotic fluid. Further, tHcy is recommended for the prenatal diagnosis of combined MMA and homocysteinemia. [ABSTRACT FROM AUTHOR]

Objective: The attributes affecting happiness include endogenous material factors such as income and social comparison, and exogenous cultural factors like individual values and national ideology. And the latter is greatly affected by media in China. This study seeks to explore the influence path of media construction on happiness under cultural perspective in China. Methods: Using Chinese General Social Survey 2015 data, we apply the ordered logit model to calculate the influence of the usage of television and Internet on happiness conspicuously. Results: The use of television and Internet both have positive influence on happiness, and the influence path is that state media shapes collectivism and Internet shapes individualism. As the state‐controlled media in China, television continuously promotes nationalism and patriotism, thus strengthens audience's collectivistic value. Meanwhile, Internet which enjoys certain speech freedom in China boosts the user's individualistic value which makes a difference in promoting happiness. Conclusion: The U‐shaped effect of "collectivism‐individualism" on happiness found in this paper empirically illustrates that collectivistic and individualistic values can both facilitate happiness, and also further shows that television and Internet can enhance happiness by influencing cultural values. [ABSTRACT FROM AUTHOR]

Background: Methylmalonic aciduria (MMA) combined with homocystinuria, cobalamin(cbl)C deficiency type (OMIM 277400), is the most common autosomal recessive inherited disorder of intracellular cobalamin metabolism caused by mutations in the MMACHC gene (OMIM 609831), of which more than 100 mutations have been identified to date. In this study, we only identified a coding mutation in one allele at the MMACHC gene locus, and no large fragments deletion or duplication were found. Up to now, only three epimutation cblC cases were reported. We hypothesized whether the MMACHC was hypermethylated. Methods: To address this hypothesis, the entire coding region and adjacent splice sites of the panel genes involved in metabolic diseases were sequenced using the Illumina HiSeq X platform, followed by confirmation via Sanger sequencing in their parents and brothers. Methylation analysis of the MMACHC was performed using an EpiTect Bisulfite Kit and methylation‐specific PCR (MSP) to investigate the role of epimutations in cblC disease. Results: We identified a clearly pathogenic single heterozygous c.658_660del, p. (K220del) mutation, which was also identified in the mother. Analysis of the MMACHC indicated a heterozygous epimutation consisting of 34 hypermethylated CpG sites in a CpG island encompassing the promoter and first exon of the MMACHC, which was also identified in the father. Furthermore, we identified a single heterozygous c.*2C>T mutation in the sixth exon of the PRDX1 (OMIM 176763) in patients and their fathers, which was the only sequence variation that segregated with the MMACHC methylation. Neither c.658_660del and epimutation in MMACHC nor c.*2C>T in PRDX1 was discovered in her brother. Conclusion: We report compound heterozygotes in MMACHC for a genetic mutation and an epimutation in cblC cases. To our best knowledge, this is the first report of two cblC cases from China caused by compound heterozygous mutations with a coding mutation in one allele and an epimutation in the other at the MMACHC locus. [ABSTRACT FROM AUTHOR]

Background: Cobalamin C deficiency (cblC) caused by the MMACHC mutations is the most common type of the disorders of intracellular cobalamin metabolism. While the c.609G > A mutation is most frequent in Chinese cblC patients, its correlation with phenotype has not been delineated. Here we aim to investigate the factors affecting variable phenotypes and outcomes associated with the MMACHC c.609G > A homologous mutation in 149 Chinese cases to have implications for treatment and prevention.Methods: We assessed 149 cblC patients caused by MMACHC c.609G > A homozygous mutation. The clinical manifestations, complications, treatment, and outcomes were evaluated; 120 patients were followed-up till December 2019.Results: Two patients (1.3%) were prenatally diagnosed, treated after birth and consequently showed normal development. In 15 patients (10.1%) detected by newborn screening, 10 were treated at the age of 2 weeks and showed normal development, while the other 5 were treated after onset and showed neurologic disorders. All 132 clinically diagnosed patients (88.6%) developed symptoms at age from few minutes after birth to 72 months. Among them, 101 (76.5%) had early-onset (before the age of 12 months) and 31 (23.5%) had late-onset (after the age of 12 months). Totally 5 patients died and 24 were lost to follow-up. Of the 132 clinical diagnosed patients, 92 (69.7%) presented with developmental delay, 65 (49.2%) had seizures, 37 (28.0%) had anemia, 24 (18.2%) had feeding difficulty, 23 (17.4%) had ocular problems, and 22 (16.7%) had hydrocephalus. Compared with the non-developmental delay group, the onset age, the age at treatment initiation and the time from onset to treatment initiation were later in the developmental delay group. Seizure group showed significantly higher urinary methylmalonic acid concentration. During long-term follow-up, plasma total homocysteine (tHcy) levels were significantly higher in patients in the uncontrolled group than those in the seizure-free group.Conclusions: Most cblC patients caused by MMACHC c.609G > A homozygous mutation showed early-onset. The clinically diagnosed patients usually showed the presence of irreversible brain disorders. Patients treated from the pre-symptomatic stage showed favorable outcomes. Therefore, newborn screening, prenatal diagnosis and early treatment are crucial and the c.609G > A mutant allele should be listed in the pre-pregnancy carrier screening panel in China. [ABSTRACT FROM AUTHOR]

Regulating plant density is an important practice to improve winter wheat productivity under limited irrigation in North China Plain. Field experiments were carried out over two seasons (2014–15 and 2015–16) under three plant densities (Dh: 480–570, Dm: 360–390, Dl: 240–270 104 plants hm−2) and three irrigation levels (W0: no irrigation; W1: irrigated 80.0 mm only at the jointing stage, which also means limited irrigation; W2: irrigated 60.0 mm each at the jointing and the flowering stages). Results showed that higher numbers of spikes and higher yield were obtained at high density than that at low density under limited irrigation. Under the same irrigation, wheat culms at ripening stage and the proportion of main stem spikes increased with plant density increasing, along with the increasing of transportation amount, transportation rate, and contribution rate of pre-anthesis storage material to grain. But accumulation amount and contribution rate of post-anthesis dry matter, which was influenced by irrigation level, showed a declining trend with increasing plant density under W2 and W1. Therefore, (1) under limited water condition, yield loss could be compensated by increasing contribution rate of pre-anthesis storage material to grain with increasing plant density. (2) Meantime, under the same limited water condition, higher plant densities could promote nitrogen accumulation in grain and plant of wheat, which was significantly correlation to wheat yield. (3) Considering water and nitrogen use efficiency, medium plant density (Dm) is recommended in wet years, high plant density (Dh) may be considered to increase wheat yield in dry years. [ABSTRACT FROM AUTHOR]

The intensive use of groundwater and nitrogen fertilizer has led to serious negative impacts on the environment of the North China Plain (NCP). Water footprint is an emerging approach to assess the consumptive water use and the environmental impacts on winter wheat-summer maize systems. A seven-year rotation experiment was conducted to collect data on wheat and maize growth response to nitrogen rates and irrigation schedules and to explore how the water footprint was affected, using DSSAT 4.6 Wheat and Maize crop models. Results showed that the increase in farm inputs contributed greatly to the increase in water footprint, primarily through the grey water footprint. The water footprints of maize and wheat were more sensitive to the nitrogen rate and irrigation, respectively. An irrigation of 160 mm produced a minimum total water footprint and higher yield for wheat. The grey water footprint of maize increased linearly when the nitrogen rate applied to maize exceeded 60 kg ha−1. Water-saving irrigation with 300 kg ha−1 of nitrogen can maintain a higher grain yield and have little impact on the environment. The approach used and the results can help to develop management strategies to maintain high yields while minimizing the water footprint in NCP. [ABSTRACT FROM AUTHOR]

Objective: To explore the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A (SPG5A)., Methods: A pedigree suspected for Hereditary spastic paraplegia (HSP) at Henan Children's Hospital on August 15 2022 was selected as the study subject. Clinical data of the pedigree was collected. Peripheral blood samples were collected from members of the pedigree. Following extraction of genomic DNA, trio-WGS was carried out, and candidate variant was verified by Sanger sequencing., Results: The child, a 1-year-old boy, had presented with microcephaly, hairy face and dorsal side of distal extremities and trunk, intellectual and motor development delay, increased muscle tone of lower limbs, hyperreflexes of bilateral knee tendons, and positive pathological signs. His parents and sister both had normal phenotypes. Trio-WGS revealed that the child has harbored a homozygous c.1250G>A (p.Arg417His) variant of the CYP7B1 gene, for which his mother was heterozygous, the father and sister were of the wild type. The variant was determined to have originated from maternal uniparental disomy (UPD). The result of Sanger sequencing was in keeping with the that of trio-WGS. SPG5A due to maternal UPD of chromosome 8 was unreported previously., Conclusion: The child was diagnosed with SPG5A, a complex type of HSP, for which the homozygous c.1250G>A variant of the CYP7B1 gene derived from maternal UPD may be accountable.

Background: We aimed to evaluate the diagnostic capabilities of Chinese laboratories for inherited metabolic disorders (IMDs) using gas chromatography-mass spectrometry (GC-MS) on urine samples. Meanwhile, based on the result of the pilot external quality assessment (EQA) scheme, we hope to establish a standardized and reliable procedure for future EQA practice., Methods: We recruited laboratories that participated in the EQA of quantitative analysis of urinary organic acids with GC-MS before joining the surveys. In each survey, a set of five real urine samples was distributed to each participant. The participants should analyze the sample by GC-MS and report the "analytical result", "the most likely diagnosis", and "recommendation for further tests" to the NCCL before the deadline., Results: A total of 21 laboratories participated in the scheme. The pass rates were 94.4% in 2020 and 89.5% in 2021. For all eight IMDs tested, the analytical proficiency rates ranged from 84.7% - 100%, and the interpretational performance rate ranged from 88.2% - 97.0%. The performance on hyperphenylalaninemia (HPA), 3-methylcrotonyl-CoA carboxylase deficiency (MCCD), and ethylmalonic encephalopathy (EE) samples were not satisfactory., Conclusions: In general, the participants of this pilot EQA scheme are equipped with the basic capability for qualitative organic acid analysis and interpretation of the results. Limited by the small size of laboratories and samples involved, this activity could not fully reflect the state of clinical practice of Chinese laboratories. NCCL will improve the EQA scheme and implement more EQA activities in the future.

The threat of global climate change on wheat production may be underestimated by the limited capacity of many crop models to predict grain quality and protein composition. This study aimed to integrate a wheat quality module of protein components into the CROPSIM-CERES-Wheat model to investigate the impact of climate change on wheat grain yield and protein quality in the North China Region (NCR) using five Global Climate Models (GCMs) from CMIP6 under three shared socioeconomic pathways. The CERES-Wheat model with a quality module was developed and calibrated and validated using data from several sites in the NCR. The results of the calibration and validation showed that the modified CERES-Wheat model can accurately predict grain yield, protein content and its components in field experiments. Compared with the baseline period (1981-2010), the annual mean temperature and annual cumulative precipitation increased in the NCR in the 2030's, 2050's and 2080's. The radiation was higher under the SSP126 and SSP585 scenarios, and lower under the SSP370 scenario compared to the baseline period. The anthesis and maturity date occurred earlier under the three future scenarios. The average grain yield increased by 13.3-30.9 % under three future scenarios. However, the regional average grain protein content of winter wheat in the future decreased by 2.0 %- 3.5 %. The reduction in wheat grain protein at the regional was less pronounced under SSP370 than that under SSP126 and SSP585. The structural protein content of winter wheat decreased under future climate conditions compared with the baseline period, but the storage protein content showed the opposite tendency. The model provided a useful tool to study the effects of future climate on grain quality and protein composition. These findings are important for developing agricultural practices and strategies to mitigate the potential impacts of climate change on wheat production and wheat quality in the future., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Hui Ju reports financial support was provided by Ministry of Science and Technology of the People's Republic of China. Di Zhang reports financial support was provided by Yangling Vocational and Technical College. Dongxiao Li reports financial support was provided by Ministry of Science and Technology of the People's Republic of China., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Background: The natural history and genotype-phenotype correlation of Pelizaeus-Merzbacher disease (PMD) of Chinese patients has been rarely reported., Method: Patients who met the criteria for PMD were enrolled in our study. Genomic analysis was conducted by multiplex ligation probe amplification (MLPA) and Sanger or whole-exome sequencing (WES). Natural history differences and genotype-phenotype correlations were analyzed., Result: A total of 111 patients were enrolled in our follow-up study. The median follow-up interval was 53 m (1185). Among PMD patients, developmental delay was the most common sign, and nystagmus and hypotonia were the most common initial symptoms observed. A total of 78.4% of the patients were able to control their head, and 72.1% could speak words. However, few of the patients could stand (9.0%) or walk (4.5%) by themselves. Nystagmus improved in more than half of the patients, and hypotonia sometimes deteriorated to movement disorders. More PLP1 point mutations patients were categorized into severe group, while more patients with PLP1 duplications were categorized into mild group (p < 0.001). Compared to patients in mild groups, those in the severe group had earlier disease onset and had acquired fewer skills at a later age., Conclusion: PMD patients have early disease onset with nystagmus and hypotonia followed by decreased nystagmus and movement disorders, such as spasticit. Patients with PLP1 duplication were more likely to be categorized into the mild group, whereas patients with point mutations were more likely to be categorized into the severe group., (© 2022. The Author(s).)

Background: Propionic acidemia is a severe inherited metabolic disorder, caused by the deficiency of propionyl-CoA carboxylase which encoded by the PCCA and PCCB genes. The aim of the study was to investigate the clinical features and outcomes, molecular epidemiology and phenotype-genotype relationship in Chinese population., Methods: We conducted a retrospective study of 60 Chinese patients diagnosed at Peking University First Hospital from 2007 to 2020. Their clinical and laboratory data were reviewed. The next-generation sequencing was conducted on blood samples from 58 patients., Results: Only 5 (8.3%) patients were identified by newborn screening. In the rest 55 patients, 25 had early-onset (≤ 3 months) disease and 30 had late-onset (> 3 months) disease. Neurological abnormalities were the most frequent complications. Five cases detected by newborn screening had basically normal development. Nine (15%) cases died in our cohort. 24 patients (41.4%) harbored PCCA variants, and 34 (58.6%) harbored PCCB variants. 30 (11 reported and 19 novel) variants in PCCA and 28 (18 reported and 10 novel) variants in PCCB mere identified. c.2002G>A and c.937C>T in PCCA, and c.838dupC in PCCB were the most common variants in this cohort, with the frequency of 13.9% (6/44 alleles), 13.9% (6/44 alleles) and 12.5% (8/64 alleles), respectively. There was no difference in clinical features and outcomes between patients with PCCA and PCCB variants. Certain variants with high frequencies and homozygotes may be associated with early-onset or late-onset propionic acidemia., Conclusions: Although the genotype-phenotype correlation is still unclear, certain variants seemed to be related to early-onset or late-onset propionic acidemia. Our study further delineated the complex clinical manifestations of propionic acidemia and expanded the spectrum of gene variants associated with propionic acidemia., (© 2022. The Author(s).)

Health information sharing has become especially important during the COVID-19 (coronavirus disease 2019) pandemic because people need to learn about the disease and then act accordingly. This study examines the perceived trust of different COVID-19 information sources (health professionals, academic institutions, government agencies, news media, social media, family, and friends) and sharing of COVID-19 information in China. Specifically, it investigates how beliefs about sharing and emotions mediate the effects of perceived source trust on source-specific information sharing intentions. Results suggest that health professionals, academic institutions, and government agencies are trusted sources of information and that people share information from these sources because they think doing so will increase disease awareness and promote disease prevention. People may also choose to share COVID-19 information from news media, social media, and family as they cope with anxiety, anger, and fear. Taken together, a better understanding of the distinct psychological mechanisms underlying health information sharing from different sources can help contribute to more effective sharing of information about COVID-19 prevention and to manage negative emotion contagion during the pandemic.

The rapid worldwide spread of Coronavirus Disease 2019 (COVID-19) has resulted in a global pandemic. Correct facemask wearing is valuable for infectious disease control, but the effectiveness of facemasks has been diminished, mostly due to improper wearing. However, there have not been any published reports on the automatic identification of facemask-wearing conditions. In this study, we develop a new facemask-wearing condition identification method by combining image super-resolution and classification networks (SRCNet), which quantifies a three-category classification problem based on unconstrained 2D facial images. The proposed algorithm contains four main steps: Image pre-processing, facial detection and cropping, image super-resolution, and facemask-wearing condition identification. Our method was trained and evaluated on the public dataset Medical Masks Dataset containing 3835 images with 671 images of no facemask-wearing, 134 images of incorrect facemask-wearing, and 3030 images of correct facemask-wearing. Finally, the proposed SRCNet achieved 98.70% accuracy and outperformed traditional end-to-end image classification methods using deep learning without image super-resolution by over 1.5% in kappa. Our findings indicate that the proposed SRCNet can achieve high-accuracy identification of facemask-wearing conditions, thus having potential applications in epidemic prevention involving COVID-19.

Methylmalonic acidemia (MMA) is the most common organic acidemia in China. This study aimed to characterise the genotypic and phenotypic variabilities, and the molecular epidemiology of Chinese patients with isolated MMA. Patients (n = 301) with isolated MMA were diagnosed by clinical examination, biochemical assays, and genetic analysis. Fifty-eight patients (19.3%) were detected by newborn screening and 243 patients (80.7%) were clinically diagnosed after onset. Clinical onset ranged from the age of 3 days to 23 years (mean age = 1.01 ± 0.15 years). Among 234 MMA patients whose detailed clinical data were available, 170 (72.6%) had early onset disease (before the age of 1 year), and 64 (27.4%) had late-onset disease. The 234 MMA patients manifested with neuropsychiatric impairment (65.4%), haematological abnormality (31.6%), renal damage (8.5%), and metabolic crises (67.1%). Haematological abnormality was significantly more common in early-onset patients than that in late-onset patients. The incidence of metabolic crises was significantly high (P < 0.001) in patients with mut type than those with other types of isolated MMA. Variations (n = 122) were identified in MMUT, MMAA, MMAB, MMADHC, SUCLG1, and SUCLA2, of which 45 were novel. c.729&#95;730insTT was the most frequent MMUT mutation, with a significantly higher frequency in our patients than that in 151 reported European patients. The frequency of c.914T>C in MMUT in our cohort was also higher than that in 151 European patients. MMUT mutations c.729&#95;730insTT and c.914T>C are specific for the Chinese population. Our study expanded the spectrum of phenotypes and genotypes in isolated MMA., (© 2019 SSIEM.)

Cobalamin G (cblG) and cobalamin J (cblJ) defects are rare disorders of cbl metabolism caused by MTR and ABCD4 mutations, respectively. Patients with atypical biochemical features can be missed by current newborn screening using tandem mass spectrometry (MS/MS), in which total homocysteine (tHCY) in dried blood spots (DBS) is not a primary biomarker. Two Chinese patients suspected of cbl defect but missed by newborn screening were studied. Using comprehensive metabolic analyses including MS/MS assay for tHCY in DBS, slightly low methionine in Patient 1, methymalonic aciduria in Patient 2, and homocysteinemia in both patients were detected, and DBS tHCY of two patients were obviously elevated (59.22 μmol/L, 17.75 μmol/L) compared to 140 healthy controls (2.5th-97.5th percentile, 1.05-8.22 μmol/L). Utilizing whole-exome sequencing, we found two novel MTR variants c.871C>T (p.Pro291Ser) and c.1771C>T (p.Arg591*) in Patient 1, and a ABCD4 homozygous variant c.423C>G (p.Asn141Lys) in Patient 2. Our study identified the first cblG patient and cblJ patient in mainland China, and highlighted comprehensive metabolic analyses and genetic tests in patients suspected of cbl defects. It also indicated that supplementary MS/MS assay for tHCY in DBS may be practical for early diagnosis of homocysteinemia, without repeated blood sampling.

Background: Cystinuria is a rare inherited renal stone disease caused by mutations in the SLC3A1 and SLC7A9 genes. The Chinese cystinuria phenotype and genotype have rarely been reported in the literature., Methods: For this research, the clinical features and genetic etiology were analyzed in seven children, and the clinical characteristics were summarized. The blood and urine amino acids and acylcarnitine were analyzed. Additionally, the whole coding sequence and exon-intron junctions of the SLC3A1 and SLC7A9 genes were analyzed., Results: These seven patients with cystinuria were from seven unrelated Chinese families, and they were diagnosed between the ages of 1 month and 16 years old. The urinary amino acids, including ornithine, arginine, and threonine, were elevated in these patients. A homozygous c.325G>A mutation in SLC7A9 was identified in two patients, and six SLC3A1 mutations were found in five patients., Conclusions: The core pedigree analysis showed that most of the parents carried mutations; however, there was no association between the clinical course and the genotype.

Purpose: Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive hypomyelination disorder characterized by nystagmus, ataxia, impaired motor development, and progressive spasticity. Identification of proteolipid protein 1 (PLP1) mutations in Chinese patients with Pelizaeus-Merzbacher disease (PMD) and confirmation of the biological impacts of the identified mutations are the aims of this study., Methods: An analysis of clinical materials and a follow-up study were conducted for the patients with PMD. Sequencing and immunofluorescence were applied for molecular analysis of the causative gene PLP1., Results: We identified PLP1 mutations in seven male patients with PMD. Three novel missense mutations (c.353C>G, p.T118R; c.623G>T, p.G208V; c.709T>G, p.F237V) and three reported missense mutations (c.467C>T, p.T156I; c.517C>T, p.P173S; c.646C>T, p.P216S) of PLP1 were identified from seven Chinese PMD patients. The three mutations (F237V in patient 2, P216S in patient 5 and T156I in patient 6) were de novo. Mutant proteins were trapped in the lumen of endoplasmic reticulum., Conclusion: We have identified six pathogenic mutations, enriching the specific spectrum of missense mutations in the patients with PMD. The six PLP1 mutations are probably pathogenic. By reviewing the known PLP1 mutations, we have preliminarily revealed the position of missense mutation may be associated with the severity of PMD., (Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)