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Objective:To explore the clinical characteristics and medical nutritional therapy of 6 patients with late-onset ornithine transcarbamylase (OTC) deficiency.Methods:The clinical features, biochemical data, gene variations and treatment outcomes of 6 children with late-onset OTC deficiency admitted to the Department of Clinical Nutrition, Children′s Hospital of Nanjing Medical University from January 2020 to April 2022 were retrospectively analyzed.The 6 patients were all intervened by a long-term medical nutrition management.Results:Liver dysfunction and hyperammonemia (172.1-348.0 μmol/L) were found in all the 6 children with late-onset OTC deficiency.Serum citrulline decreased in 3 patients (3.95-5.43 μmol/L). Three patients showed increased urine orotic acid (123.48-342.60 mmol/mol Cr). Urine uracil increased in 4 patients (106.77-1 207.26 mmol/mol Cr). Variations of the OTC gene [c.364G>C p. (E122Q), c.1028C>G p. (T343R), c.664-2(IVS6)A>C, c.635G>T p. (G212V), c.929_c.931delAAG p. (E310del), c.829C>T p. (R277W)] were identified in all patients.The 6 children were all managed by individualized medical nutrition program and followed up for a long time.During the follow-up period, 3 cases developed hypoproteinemia, acute metabolic crisis and growth retardation, 3 cases had normal growth and laboratory indicators, and 1 case received liver transplantation after 3 months of nutritional management. Conclusions:The clinical manifestations of OTC deficiency are non-specific.Blood amino acids, urine organic acids and genetic tests are important for the diagnosis.Long-term regular medical nutrition management is helpful to improve the prognosis and quality of life of children.
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Objective To analyze the clinical,radiological features and risk factors of diplopia in patients with acute lacunar infarction (ALI).Methods Retrospectively retrieved patients of ALI (lesion diameter was less than 1.5 cm in DWI sequence)diagnosed by MR and clinical.We further summarized 13 ALI patients with diplopia and randomly selected 13 ALI patients without diplopia as the control group. SPSS22.0 statistical software was used for statistical analysis.The general clinical data such as sex and age was compared by Ch-i square test and t-test.The risk factors were primarily analyzed by one-way ANOVA and then the risk factors with statistical significance were brought into the logistic regression model for multivariate analysis.Results The incidence of diplopia in ALI patients was about 2.7%(13/489). The infarct sites were all located in the brain stem of the oculomotor-related brain nucleus and the dorsolateral medulla oblongata.Hypertension and hematocrit were negatively correlated with diplopia after infarction (P＜0.05 ).Conclusion The incidence of diplopia is low in ALI patients.The medial longitudinal tract of the dorsolateral medulla is an important area causing diplopia.Hypertension and hematocrit are non-risk factors for diplopia after ALI.
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Objective To investigate the nutritional risk of hospitalized infants with severe pneumonia and its relationship with clinical outcome. Methods Totally 113 infants with severe pneumonia admitted to pediatric intensive care unit (PICU)were enrolled in the study. Nutritional risks were screened by STRONGkids, and the nutritional were assessment with WHO Anthro. Clinical outcomes were recorded and analyzed, including mechanical ventilation, length of PICU stay, total hospital expenses, prognosis, and biochemical test index. Results A total of 44 infants (38.9％) had high nutritional risk, 49 (43.4％) had medium nutritional risk, 20 (17.7％) had low nutritional risk when they admitted to PICU. A total of 59 (52.2％) infants were malnourished when they admitted to PICU. There was a significant correlation between the degree of malnutrition and nutritional risk (r =0.574, P<0.01).The incidence of high nutritional risk was significantly higher in 28d～1year-old group than in 1～3 year-old group (χ2=20.46, P<0.01). Nearly 42.5％(48/113) of the children had congenital disease and had higher incidence of high nutritional risk (χ2=11.375, P=0.003) and higher incidence of malnutrition (χ2=10.083, P=0.001) than those without congenital disease. The rate of mechanical ventilation (P=0.028), the duration of mechanical ventilation (P<0.01), total hospital expenses (P=0.002) and the incidence of poor prognosis(P=0.014) were significantly higher in high nutritional risk group than the low nutritional risk group. The retinol binding protein in the high nutrition risk group was significantly lower than the low nutrition risk group (χ2=6.333, P=0.021). Conclusions High nutritional risk and malnutrition are common in infants with severe pneumonia. Malnutrition and nutritional risk are increased in patients less than 1 year old or suffering from congenital disease. Patients with high nutritional risk are more likely to have worse clinical outcomes. STRONGkids is a valid tool for nutritional risk screening in hospitalized children, and early nutrition support is recommended.
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Objective To investigate the nutritional status and the clinical outcome of the critically ill chil-dren,and to provide scientific evidence for further clinical nutrition management. Methods Nutritional risk screening was performed on 1183 critically ill children hospitalized at the Intensive Care Unit (ICU),Children′s Hospital of Nanjing Medical University from October 2016 to October 2017 by using the Screening Tool for Risk on Nutritional Sta-tus and Growth (STRONGkids),the ICU including of Pediatric Intensive Care Unit (PICU),Surgical Intensive Care Unit (SICU)and Coronary Care Unit (CCU). Median age of the children was (2. 6 ± 2. 4)years (29 d - 12. 9 years). Nutritional status was estimated,and scores of anthropometric parameters such as weight - for - age Z - score (WAZ)(< 5 years)or body mass index - for - age Z - score (BAZ)(≥5 years)were calculated. The data on inci-dence of infectious complications,duration of ICU stay and mechanical ventilation,the total hospital expenses and in -hospital mortality were recorded. Results Of the 1183 cases,134 children(11. 3％)had low nutritional risk,746 children(63. 1％)had moderate nutritional risk and 303 children(25. 6％)high nutritional risk. The prevalence of se-vere malnutrition,moderate malnutrition and mild malnutrition was 8. 1％ (96 / 1183 cases),8. 2％ (97 / 1183 ca-ses),and 12. 8％ (151 / 1183 cases)respectively. The severe malnutrition group had a higher incidence of high nutri-tional risk than other groups [74. 0％(71 / 96 cases)vs. 67. 0％(65 / 97 cases),40. 4％(61/ 151 cases),12. 6％(106/839 cases)],and the differe-nce was statistically significant (P < 0. 001). The incidence of high nutritional risk in the CCU was higher than that than that in the PICU and SICU,and the difference was statistically significant [36. 5％(96 /263 cases),23. 8％(125 / 524 cases)and 20. 7％(82 / 396 cases)respectively,P < 0. 01]. And the incidence of high nutritional risk was higher in infants[37. 6％(198 / 527 cases)]than those in the other age groups[18. 4％(52 / 282 cases),12. 0％(21 / 175 cases),16. 0％(32 / 199 cases)],and the difference was statistically significant (χ2 = 68. 90, P < 0. 0001). Children with a high nutritional risk had increased incidence of infectious complications [8. 6％(26 / 303 cases)vs. 4. 7％ (35 / 746 cases),3. 7％ (5 / 134 cases)],incidence of mechanical ventilation [66. 0％ (200 / 303 cases)vs. 41. 4％(309 / 746 cases),38. 8％(52 / 134 cases)]and total hospital expenses (￥ 52500 vs. ￥ 39700 and￥ 48700 RMB)compared with those with the moderate or the low nutritional risk,and the differences were statistically significant(all P < 0. 05). There were 16 deaths and 8 deaths (2. 7％)in the high nutrition risk group,which was sig-nificantly higher than those in the moderate nutrition risk group [8 cases (1. 1％)]and the low nutrition risk group [0 case(0)](χ2 = 7. 60,P = 0. 02). Conclusions Moderate or high nutritional risk is seen in the critically ill chil-dren,especially in infants and the children with congenital heart disease. Nutritional risk score is correlated with clinical outcomes. Nutritional risk screening and standard nutritional support are recommended so as to improve clinical treat-ment outcomes.
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Objective To explore the diagnostic value of ultrasonic elastography and fine flow imaging in differential diagnosis of cervical lymph nodes.Methods Totally 87 lymph nodes were examined with ultrasonic elastography,fine flow and conventional ultrasonography.The results were confirmed with postoperative pathology or fine-needle biopsy as well as follow-up.Using consistency check of Kappa and ROC curve to analyse the accuracy of three types of ultrasonic examination.Results Taking the results of postoperative pathology or fine-needle biopsy as well as follow-up as golden standards,the Kappa value of conventional ultrasonography was poor (Kappa =0.153,P =0.078),fine flow was moderate (Kappa =0.526,P ＜0.01) and ultrasonic elastography was better (Kappa =0.741,P ＜0.01).The area under ROC of ultrasonic elastography,fine flow and conventional ultrasonography was 0.899 (P ＜0.01),0.787 (P ＜0.01) and 0.568 (P =0.241),respectively.Conclusions Ultrasonic elastography is more valuable to differentiate malignant from benign lymph nodes.