Study on correlation between perioperative cognitive function and nutritional status in elderly patients with gastric cancer.

OBJECTIVE: To investigate the cognitive function and nutritional status of elderly patients with gastric cancer during perioperative period, and to analyze their correlation. METHODS: Aged patients undergoing gastric cancer surgery in The Affiliated Cancer Hospital of Shandong First Medical University from March to October 2021 were selected as the subjects of this study. The monitoring data of cognitive function and nutritional status were retrospectively analyzed from 1 to 3 days before surgery, 1 and 3 days after surgery, 7 days after surgery (before discharge) and 30 days after surgery to analyze the correlation between cognitive function and nutritional status in elderly patients with gastric cancer. RESULTS: the incidence of mild cognitive impairment in elderly patients with gastric cancer was 52.43 %, the visual space of the two groups' (mild cognitive impairment) ability of execution, name, attention, language, abstract thinking, delayed memory and cognitive function scores were lower than 1 set of directional force (cognitive function in normal group), statistically significant difference (P < 0.05). The nutritional status of elderly patients with gastric cancer was lower than that of healthy elderly group at the same period (P < 0.05). The scores of visual spatial executive function, name, attention, delayed memory, orientation and total score of cognitive function in elderly gastric cancer patients were positively correlated with nutritional status (P < 0.05). CONCLUSIONS: The cognitive function and nutritional status of elderly patients with gastric cancer are both in a low state during treatment and a higher level of cognitive function can help patients maintain a more correct nutritional cognition, and the nutritional status of patients will be relatively better. There is a positive correlation between cognitive function and nutritional status in elderly patients with gastric cancer, which should be paid attention to in the treatment.

A rare ACAN non-canonical splicing-site intron variant results in familial short stature.

OBJECTIVE: ACAN gene variants, prevalent monogenic defects linked to short stature, are characterized by impaired cartilage generation in growth plates. We aimed to unravel the genetic basis of short stature in a specific pedigree by investigating the role of a novel non-canonical splicing-site variant, c.630-13G > A, within the ACAN gene. METHOD: Sanger sequencing was used for pedigree verification, and the effects of this variant on mRNA splicing were analyzed through minigene assay. RESULTS: The study revealed that this variant led to the creation of a previously unreported splice site in the fourth intron, resulting in the incorporation of an 11 bp sequence from the intron into the final transcript. This alteration led to a frameshift and formation of a premature termination codon, impacting the structure of the aggrecan protein. CONCLUSIONS: We document the pathogenicity of an ACAN non-canonical splicing-site variant, emphasizing the significance of considering intronic variants during genetic testing.

A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype.

Objectives: Methylmalonic acidemia (MMA) is a rare inborn genetic disorder that is characterized by increased levels of methylmalonic acid in blood plasma and urine. Isolated methylmalonic acidemia is one of the most common types of MMA and is caused by mutations in the gene encoding methyl-malonyl coenzyme A mutase (MMUT). In this study, we investigated the possible mechanisms underlying the symptoms of isolated MMA in a patient by molecular analysis. Methods: PCR amplification and Sanger sequencing analysis was performed to identify variants in the MMUT gene in the proband and his family. Furthermore, minigene constructs were generated to validate the splicing defects in the MMUT gene variant identified in the proband. Results: The 3-year-old patient was admitted to the hospital with symptoms of MMA, including fever, convulsions, and vomiting. He showed metabolic acidosis, high levels of methylmalonic acid in blood and urine, and normal blood homocysteine levels. Genetic analysis demonstrated that the patient was a compound heterozygous carrier of two variants in the MMUT gene: a missense c.278G > A variant that has already been reported in a patient with the severe mut° phenotype; and a novel splice site variant c.2125-2A > G. RT-PCR analysis showed that, while the novel variant clearly alters splicing, a minor amount of a full-length transcript is generated, suggesting that a wild-type protein may be produced although at a lower quantitative level. The patient's condition improved after treatment with vitamin B12. Serious complications were not reported during follow-up at age 5. Conclusions: We identified a novel splice site variant that partially disrupts normal splicing of the MMUT pre-mRNA. Production of a reduced amount of full-length transcript is responsible for the mild clinical phenotype observed in this patient. Functional studies have proven useful in exploring the genotype-phenotype association and in providing guidance for the genetic diagnosis of MMA.

The effect of mindfulness and psychological capital on mental health of breast cancer patients: Based on polynomial regression and response surface analysis.

OBJECTIVE: To explore the combined effects of mindfulness and psychological capital on mental health of breast cancer patients and to examine the mediating effect of positive emotions in their relationship. METHODS: A convenient sampling method was used in this study, and 522 breast cancer patients aged 18 to 59 who received chemotherapy in a tertiary cancer hospital were enrolled. Polynomial regression with response surface analysis was mainly employed to explore the relationship between mindfulness, psychological capital, and mental health. A block-variable approach was used to verify the mediating effect of positive emotions. RESULTS: In cases of congruence, mental health was better when mindfulness and psychological capital were both high instead of being both low (the slope of the congruence was 0.540, p < 0.001); In cases of incongruence, poorer mental health was found in breast cancer patients with low psychological capital and high mindfulness compared with those who had high psychological capital and low mindfulness (the slope of the incongruence was -0.338, p < 0.001), and the combined effects were a positive curve (positive U-shaped) related to mental health (ß = 0.102, p = 0.040). In addition, positive emotions played a mediating role in the relationship between the block variable (mindfulness and psychological capital) and mental health, and the indirect effect was 0.131. CONCLUSIONS: This study expanded the research on the effects of mindfulness and psychological capital in improving mental health as well as the conflict between the two variables related to mental health by employing a new analytical technique among breast cancer patients.

Treatment-induced menopause symptoms among women with breast cancer undergoing chemotherapy in China: a comparison to age- and menopause status-matched controls.

OBJECTIVE: Whether women with breast cancer experience more severe menopause symptoms than comparison women without a history of breast cancer diagnosis remains unclear. We aimed to investigate whether women with breast cancer undergoing chemotherapy experience more severe menopause symptoms than comparison women and explore various factors influencing menopause symptoms in women with breast cancer undergoing chemotherapy. METHODS: This cross-sectional observational study recruited 423 women with breast cancer undergoing chemotherapy and 1,829 community women without breast cancer. All participants completed a questionnaire assessing menopause symptoms using the Menopause Rating Scale and general characteristics (eg, sociodemographic and clinical data). Propensity score matching was used to reduce the confounders between the two groups. Student's t test or Mann-Whitney U test and chi-square tests were used to compare the differences in menopause symptoms between the two groups. Multivariate linear regression analysis was performed to explore various factors influencing menopause symptoms in women with breast cancer undergoing chemotherapy. RESULTS: After propensity score matching, 808 participants were included. The mean ages of women with breast cancer undergoing chemotherapy and comparison women were 49.58 and 49.10 years, respectively. Women with breast cancer undergoing chemotherapy experienced significantly more severe vasomotor symptoms than comparison women. However, comparison women had higher Menopause Rating Scale scores and more severe menopause symptoms than women with breast cancer undergoing chemotherapy. Age, occupational status, chemotherapy-induced amenorrhea, family history of cancer, chemotherapy stage, mindfulness, resiliency, and illness perception were associated with menopause symptoms in women with breast cancer undergoing chemotherapy. CONCLUSIONS: Vasomotor symptoms are prominent among women with breast cancer undergoing chemotherapy. Understanding the factors contributing to menopause symptoms is crucial for healthcare practitioners to develop supportive guidelines for the well-being of women with breast cancer undergoing chemotherapy.

Effect of Nutritional Intervention on Energy Intake in Head and Neck Cancer Patients After Radiotherapy.

Objective: This study aimed to analyze the impact of nutritional intervention during radiotherapy for head and neck tumors and its effects on energy intake, consumption, and nutritional status. Methods: A comparative or observational study was conducted, and a total of 103 head and neck tumor patients undergoing radiotherapy were selected for this study and divided into two groups. The control group (n = 51) received routine nursing intervention, while the observation group (n = 52) received additional nutritional intervention. We compared the nutritional status, energy intake and consumption, and emotional well-being between the two groups. Results: After the intervention, the observation group exhibited significantly higher levels of BMI, serum prealbumin, hemoglobin, and albumin compared to the control group (P < .05). Energy intake during radiotherapy was significantly higher in the observation group than in the control group. Furthermore, the energy consumption in the observation group was significantly lower than in the control group (P < .05). After the intervention, the observation group reported lower scores on the Self-rating Anxiety Scale and Self-rating Depression Scale compared to the control group (P < .05). In a three-month follow-up after radiotherapy, the observation group's EORTC Cancer Quality of Life Scale score was also significantly higher than that of the control group (P < .05). Conclusions: Nutritional intervention proved effective in increasing energy intake and reducing energy consumption in patients undergoing radiotherapy for head and neck tumors. This improvement positively impacted the nutritional status and quality of life of the patients, emphasizing its significant research value.

Incidence and risk factors of intimate partner violence among patients with gynaecological cancer in China.

AIM: The aim of this study is to examine the incidence and risk factors for intimate partner violence (IPV) among patients with gynaecological cancer. DESIGN: A cross-sectional study design was employed. METHODS: Patients with gynaecological cancer were recruited from a tertiary hospital in Shandong, China. Eligible patients completed a survey including questions regarding their demographic and cancer-related characteristics, IPV experience and dyadic coping. RESULTS: A total of 429 patients were surveyed, 31% of them reported previous experiences with IPV, and negotiation was the most common type reported. The following variables were associated with IPV: a husband, wife and child/children family structure; a husband, wife, child/children and parent-in-law family structure; an annual household income ≥¥50,000 ($7207); and a similar or greater income earned by the patient than by her partner. PATIENT OR PUBLIC CONTRIBUTION: IPV in patients with gynaecological cancer is investigated in this study.

Effect of Multimodal Exercise on Cancer-Related Fatigue in Patients Undergoing Simultaneous Radiotherapy and Chemotherapy: A Randomized Trial in Patients with Breast Cancer.

Background and Objective: Breast cancer as well as the main treatments for breast cancer, including radiotherapy and chemotherapy, cause cancer-related fatigue in up to 90% of patients, seriously reducing the quality of life of patients. So, the study aimed to explore the intervention effect of multimodal exercise on cancer-related fatigue in patients with breast cancer. Methods: One hundred and eighty-four breast cancer patients who were receiving simultaneous radiotherapy and chemotherapy in a grade 3A specialist hospital in Shandong Province were randomly divided into an experimental group (n = 92) and a control group (n = 92). The experimental group received routine radiotherapy and chemotherapy nursing and additional multimodal exercise training, whereas the control group received only routine radiotherapy and chemotherapy nursing. The evaluation tools used were the general information questionnaire, cancer-related fatigue scale, hospital anxiety and depression scale, and quality of life scale for cancer patients. The scores for cancer-related fatigue, anxiety, depression, and quality of life were measured before and 1, 3, and 5 weeks after intervention. Results: The total score for cancer-related fatigue was significantly lower in the experimental group than in the control group (P < .05). Conclusion: Multimodal exercise can effectively relieve the fatigue symptoms of patients with breast cancer during radiotherapy and chemotherapy, reduce depression, and improve the quality of life.

Correlations between the severity of radiation-induced oral mucositis and salivary epidermal growth factor as well as inflammatory cytokines in patients with head and neck cancer.

BACKGROUND: This study aimed to investigate correlations of the severity of radiation-induced oral mucositis (RIOM) with epidermal growth factor (EGF) and inflammatory cytokines in patients with head and neck cancer (HNC). METHODS: Levels of inflammatory cytokines and EGF in saliva of HNC patients were measured. Correlations of inflammatory cytokines and EGF levels with RIOM severity and pain degree, and their diagnostic values on RIOM severity were determined. RESULTS: Elevated IFN-γ, TNF-α, IL-2, and IL-6 levels, and reduced IL-4, IL-10, and EGF levels were found in patients with severe RIOM. IFN-γ, TNF-α, IL-2, and IL-6 were positively correlated with RIOM severity, while IL-10, IL-4, and EGF were negatively correlated with it. All factors were effective in predicting the severity of RIOM. CONCLUSION: IFN-γ, TNF-α, IL-2, and IL-6 in saliva of patients with HNC are positively correlated with the severity of RIOM, and IL-4, IL-10, and EGF were negatively correlated with it.

Dyadic coping in young and middle-aged women with gynecological cancer: a latent class analysis.

PURPOSE: Cancer is a shared stress that can cause psychosocial and emotional burdens for both patients and their partners. This study aimed to identify patterns of dyadic coping (DC) among young and middle-aged women with gynecological cancer and to assess between-group differences. METHODS: Between June 2021 and November 2021, patients with gynecological cancer who received therapy in a tertiary-grade hospital in Shandong, China, completed questionnaires including a demographic questionnaire, the Dyadic Coping Inventory, the PROMIS-Anxiety Short Form, the PROMIS-Depression Short Form, and the revised Conflict Tactics Scale and were classified into subtypes by latent class analysis. RESULTS: The sample consisted of 339 patients. Approximately one-third of the patients, especially cervical cancer patients, were exposed to varying degrees of DC issues. Three patterns were identified: class 1, middle-DC group (33.6%); class 2, low-DC group (32.2%); and class 3, high-DC group (34.2%). Postmenopausal patients were more likely to be included in class 1, while patients with cervical cancer were more likely to be included in class 2 (p < 0.05). Additionally, patients in class 2 were more likely to report insufficient emotional support (p < 0.05). A positive correlation was found for social relationship domains, and a negative correlation was found for anxiety and depression (p < 0.05). CONCLUSION: The findings indicated a high prevalence of DC in young and middle-aged women with gynecological cancer. Overall, participants scored in the low-to-middle range in terms of DC levels, and patients with cervical cancer and those with insufficient emotional support were more likely to report DC issues and require additional attention.

Study on the Changes of Intestinal Microflora Structure in Long-Term Night Shift Nurses.

Objective: To investigate the influence of long-term night shift nurses on the composition. Methods: The feces of 30 night shift nurses (test group) and 30 day shift nurses (control group) over 1 year were collected, and double-end sequencing based on bacterial 16S rDNA V3 + V4 and fungal 18S rDNA V3 + V4 was used to determine the differences by OTU clustering, diversity, flora abundance, and differential analysis. The results of 60 samples were sequenced for a total of 3, 052. There were 418 high-quality sequences, each sample produced an average of 50, 874 high-quality sequences. The OTU cluster analysis revealed that the number of OTUs was 365. The number of day-shift shift OTUs was 362. There was no significant difference (p < 0.05). There was no significant statistical difference in the Chao, Ace, Shan'non, and Simpson index between the 2 groups (P > 0.05). Differential analysis of gut microflora between 2 groups showed that at the phylum level, the relative abundance of firmicutes in long-term night shift nurses was higher than in day shift nurses. However, the relative abundance of bacteroidetes was lower than that of white shift nurses (all p < 0.05). At the genus level, long-term night shift nurses' Bacteroides, Faecacterium, and Bifidobacterial were lower than that of white shift nurses (p < 0.05). However, the relative abundance of Prevotella and Megomonas was higher than that of white shift nurses (all p < 0.05). Conclusion: There are differences between night shift nurses, which lead to a decrease in intestinal probiotic flora and increased conditional pathogenic flora. Nursing managers should improve the intestinal flora change of night shift nurses through reasonable scheduling and dietary regulation.

Effect of HCH Nutrition Management Combined with Early Exercise Nursing on Nutrition Status and Postoperative Rehabilitation of Patients after Gastric Cancer Surgery.

Objective: The study aimed to analyze the effect of hospital-community-family (HCH) nutrition management combined with early exercise nursing on nutrition status and postoperative rehabilitation of patients after gastric cancer surgery. Methods: A total of 80 patients with gastric cancer admitted from January 2019 to June 2021 were selected and divided by the odd-even grouping method into two groups, i.e., 40 cases in the control group adopting routine nursing combined with early exercise nursing and 40 cases in the study group adopting HCH nutrition management; the nutrition status and postoperative rehabilitation of the two groups were compared. Results: The times of feeding, bowel sound, anal exhaust, and defecation in the study group after surgery were shorter than those in the control group, with a difference of statistical significance (P < 0.05). 3 months after discharge, the scores of Patient-Generated Subjective Global Assessment (PG-SAG) in the study group were lower than those in the control group, while the body mass index (BMI), prealbumin, albumin, hemoglobin, and the score of the Gastrointestinal Quality of Life Index (GIQLI) were higher than those of the control group (P < 0.05). Conclusion: Hospital-community-family nutrition management combined with early exercise nursing can improve the postoperative nutrition status of patients undergoing gastric cancer surgery and advance the time of postoperative exhaust and defecation.

Dosimetric Evaluation of Incidental Irradiation to the Internal Mammary Chain After Surgery in Breast Cancer Patients.

Background and Purpose: The low rate of internal mammary node (IMN) recurrence was attributed to systemic therapy and internal mammary chain (IMC) coverage by the tangential fields of irradiation. This study aimed to evaluate the incidental irradiation dose to the IMC in breast cancer patients after surgery and to estimate the clinical predictive parameters affecting the magnitude of the IMC. Materials and Methods: A total of 138 patients treated with postmastectomy radiotherapy and 210 patients undergoing radiotherapy after breast-conserving surgery (BCS) in our hospital were retrospectively analyzed. The mean dose (Dmean) to the IMC and the first to third intercostal spaces of IMC levels (ICS1-3) were evaluated. We evaluated the IMC coverage according to the type of surgery and whether the ipsilateral supraclavicular fossa (SCF) was included in the irradiation field. Results: The incidental radiation dose to the IMC was 29.69 Gy, and the dose delivered to the IMC, ICS1, and ICS2 showed a greater coverage in the modified radical mastectomy (MRM) group when compared with the BCS group (32.85 vs. 27.1 Gy, 26.6 vs. 12.5 Gy, 34.63 vs. 30.42 Gy). The dose delivered to ICS3 showed no difference between the MRM and BCS groups (37.41 vs. 36.24 Gy). Furthermore, 131 patients (37.64%) received radiotherapy to the chest wall and ipsilateral SCF. In the univariate analysis, both surgery type and SCF irradiation were parameters affecting the Dmean of incidental radiation to the IMC (r = -0.179, P = 0.001; r = -0.175, P = 0.001). In the multivariate analysis, surgery type was the only correlative factor that affected incidental radiation dose to the IMC (r = -3.534, P = 0.000). Conclusion: The real influencing factor of incidental dose to the IMC was the surgery form rather than the accession of SCF irradiation.

Case Report: Bronchial artery embolization and chemoradiotherapy for central squamous cell lung carcinoma with rapid regression.

Background: Interventional embolization is a common treatment for hemoptysis, one of the complications of lung cancer. However, there are no official guidelines for the use of this method in antitumor therapy. Case Description: Herein, we describe a case of a patient who was pathologically diagnosed as central squamous cell lung cancer. The patient received chemotherapy, interventional embolization and radiotherapy successively. The tumor regressed rapidly within 48 hours of receipt of interventional embolization. Furthermore, the tumor decreased by more than 50% in size within 7 days during radiotherapy. Unfortunately, the patient has since developed lymph node metastases and remains under treatment. Conclusions: Thus, finding the suitable blood vessel embolized may be a suitable option to reduce the local tumor load and can be considered as antitumor therapy in combination with other treatments. The patient's theoretical hypoxia state after interventional therapy still produced a good tumor regression after radiotherapy. However, so far, no related studies have reported the changes of tumor immune microenvironment in human body after intervention and radiotherapy.

The voltage-depolarization performance vs the free energy cost of a single nACh receptor.

The depolarization of the postsynaptic membrane potential in neuromuscular junction, which is conducted by the (stochastic) opening of nicotinic acetylcholine (nACh) receptors distributed in postsynaptic folds, is an inevitable stage in transmitting the electric signals from neural ends to muscle fibers. To perform this work, free energy must be dissipated. Being the first step in understanding the speech-accuracy-energy trade-off, we calculate the energy dissipation of a tiny membrane system that contains a single nACh receptor, i which firstly the stationary distribution of voltage is calculated based on our new method on solving the high-dimensional ODEs with variable coefficients. The ratio of the extent of depolarized-potential to the dissipated power is used to characterize the energy consuming efficiency of the system.

PET/CT metabolic patterns in systemic immune activation: A new perspective on the assessment of immunotherapy response and efficacy.

Despite advances in immunotherapy, extensive challenges remain in its clinical application. Positron emission tomography (PET)/computed tomography (CT) is widely used in the diagnosis and follow-up of malignant tumors and in the prediction of treatment outcomes. Successful cancer immunotherapy requires systemic immune activation. In addition to local immune responses, a systemic antitumor response involving primary and secondary lymphoid organs is required for tumor eradication. Immune-related adverse events (IRAEs) are considered to be a manifestation of excessive immune activation. PET/CT can monitor the metabolic changes in peripheral lymphoid organs and related organs. Thus, it can identify patients with effective immune activation and predict the efficacy and outcomes of immunotherapy. This review aimed to investigate the theoretical basis and feasibility of applying PET/CT for monitoring the immune activation status of peripheral lymphoid organs after immunotherapy and predict its effectiveness. Towards this goal, we reviewed the cellular components and structural composition of peripheral lymphoid organs, as well as their functions in the systemic immune response. We analyzed the theoretical basis and feasibility of applying PET/CT to monitor the immune activation status of peripheral lymphoid organs after immunotherapy to predict the effectiveness of immunotherapy.

The power spectrum of the membrane voltage driven by a single nACh receptor.

Being the primary mean of translating the chemical signal into the electric signal in neuromuscular junction, the nACh receptor is the first kind of ligand-gated channel that its kinetic structure has been known clearly. The next problem is to know quantitatively how it works in a living system. In this paper, we construct a piece-wise deterministic process to mimic the membrane voltage fluctuation driven by a single nACh receptor. The power spectrum of the voltage fluctuation is solved analytically, which reveals the 1/ω4-type noise.

High-throughput screening reveals novel mutations in spinal muscular atrophy patients.

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease associated with severe muscle atrophy and weakness in the limbs and trunk. The discovery of mutated genes is helpful in diagnosis and treatment for SMA. METHODS: Eighty-three whole blood samples were collected from 28 core families of clinically suspected SMA, and multiplex ligation probe amplification (MLPA) was performed. Afterwards, the complete gene sequence of SMN1 gene was detected. Furthermore, 20 SMA patients were selected from the 28 probands, and 5 non SMA children as controls. The Life Technologies SOLiD™ technology with mate-pair chemistry was utilized to conduct the whole exome high-throughput sequencing. RESULTS: Twenty-two probands were SMA patients, 3 probands carriers, and 3 probands normal individuals. Moreover, 2 parents from 2 SMA families were with 3 SMN1 exon7 copies. Six SMN1 single nucleotide variants (SNVs) were identified in the 83 samples, and c.[84C > T], c.[271C > T], c.[-39A > G] and g.[70240639G > C] were novel. Compared with control group, 9102 mutation were selected out in SMA patients. SPTA1 mutation c.[-41_-40insCTCT], FUT5 SNV c.[1001A > G], and MCCC2 SNV c.[-117A > G] were the 3 most frequent mutations in SMA group (95, 85 and 75%, respectively). CONCLUSIONS: We identified some mutations in both SMN1 and other genes, and c.[271C > T], c.[-41_-40insCTCT], c.[1001A > G] and c.[-117A > G] might be associated with the onset of SMA.

Clinical and genetic analysis of 7 Chinese patients with ß-ureidopropionase deficiency.

ß-Ureidopropionase (ßUP) deficiency is an autosomal recessive disease caused by abnormal changes in the pyrimidine-degradation pathway. This study aimed to investigate the mutation of ß-ureidopropionase gene (UPB1) gene and clinical features of 7 Chinese patients with ßUP deficiency.We reported 7 Chinese patients with ßUP deficiency who were admitted at Tianjin Children's Hospital. Urine metabolomics was detected by gas chromatography-mass spectrometry (GC-MS). Then genetic testing of UPB1 was conducted by polymerase chain reaction (PCR) method.The patients presented with developmental delay, seizures, autism, abnormal magnetic resonance imaging, and significantly elevated levels of N-carbamyl-ß-alanine and N-carbamyl-ß-aminoisobutyric acid in urine. Subsequent analysis of UPB1 mutation revealed 2 novel missense mutations (c.851G>T and c.853G>A), 3 previously reported mutations including 2 missense mutations (c.977G>A and c.91G>A) and 1 splice site mutation (c.917-1 G>A).The results suggested that the UPB1 mutation may contribute to ßUP deficiency. The c.977G>A is the most common mutation in Chinese population.

[Identification of a novel mutation of UPB1 gene in a Chinese family affected with beta-ureidopropinoase deficiency].

OBJECTIVE: To explore the molecular etiology for a Chinese family affected with beta-ureidopropinoase deficiency. METHODS: Genomic DNA was extracted from the peripheral blood samples of family members. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing. The pathogenicity of identified mutation was analyzed using Polyphen2 and SIFT software. RESULTS: Compound heterozygous mutations of the UPB1 gene, including c.853G>A (p.A285T) and c.917-1G>A, were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that this novel mutation was damaging. CONCLUSION: The compound heterozygous mutations of the UPB1 gene probably underlie the beta-ureidopropinoase deficiency in the infant. Discovery of c.853G>A also enriched the mutation spectrum of the UPB1 gene.