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06 October 2022, Volume 37 Issue 10 Previous Issue   

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Dietary therapy in the treatment of rare diseases: Opportunities and challenges FENG Yi, ZHANG Hui-wen, CAI Wei 2022, 37(10): 721-723.  DOI: 10.19538/j.ek2022100601 Abstract ( )   With the rapid development of medical technology，great progress has been made in the diagnosis and treatment of rare diseases in recent years. Eighty percent of rare diseases are genetic disorders，involving synthesis and catabolism of different nutrients. Dietary therapy，including the use of foods and food for special medical purpose，is the cornerstone of the treatment for rare diseases. However，there are various obstacles in the supply of food for special medical purpose and in dietitians' participation in dietary treatment of rare diseases currently in China. Breakthroughs in these bottlenecks will improve clinical outcomes of patients with rare diseases.

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Nutritional management of inherited metabolic diseases in hospitalized children JIA Xue-qi, HONG Li 2022, 37(10): 724-727.  DOI: 10.19538/j.ek2022100602 Abstract ( )   The clinical manifestations of inherited metabolic diseases are nonspecific，which depends on the early diagnosis by genetic or biochemical methods. Diet therapy plays a significant role. Timely clinical treatment and appropriate individualized nutritional intervention are of great significance for the disease outcome and prognosis of children with IEM.However，there are still many problems in the long-term nutritional management of IEM patients.

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Nutritional strategies for short bowel syndrome CHEN Jie 2022, 37(10): 728-732.  DOI: 10.19538/j.ek2022100603 Abstract ( )   Short bowel syndrome，as the leading cause of pediatric intestinal failure，is due to surgical resection， congenital defects or disease-related loss of absorption，and normal routine diet can not maintain the balance among protein-energy，body fluid，electrolyte and micronutrient. Nutritional management is required to promote intestinal adaptation to achieve gut autonomy while maintaining normal  growth and development. Nutritional strategies are heterogeneous and complicated，and must be tailored，and there are no evidence-based recommendations for the type and duration of parenteral nutrition， enteral nutrition or oral feeding. Parenteral nutrition is critical for the survival of infants and children with short bowel syndrome， and a prudent nutritional strategy is essential to reduciing the duration of parenteral nutrition and decreasubg the risk of parenteral nutrition-related complications. To facilitate intestinal adaptation， start minimal enteral feeding at the early stage and gradually increase the amount of enteral nutrition according to intestinal tolerance. Oral feeding and a varied and balanced diet are necessary. Breast milk and blended diet are good choices.

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Nutritional management of pancreatitis in children LOU Jin-gan 2022, 37(10): 732-736.  DOI: 10.19538/j.ek2022100604 Abstract ( )   In recent decades，the incidence of pancreatitis in children has been increasing year by year.However，due to the limited published researches related to pediatric pancreatitis，the nutritional management guidelines for children with pancreatitis are mostly based on adult researches. At present，multiple studies in the adult population have resulted in significant changes with regard to nutritional management.Nutritional management of pancreatitis in children lags significantly behind that in adults. The objective of this review is to discuss the nutritional management of pancreatitis in children by reviewing the adult literature regarding the nutritional management of pancreatitis and through combination with limited researches in children.

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Dietary and nutritional intervention in glycogen storage disease CHEN Yong-xing, LU Xiang-peng, YANG Yan-ling, et al 2022, 37(10): 736-739.  DOI: 10.19538/j.ek2022100605 Abstract ( )   Glycogen storage diseases（GSD）is a group of abnormal glycogen metabolism caused by congenital enzyme defects，and glycogen accumulation in the liver，muscle，myocardial tissue leads to a variety of diseases. Most of them lack specific treatment.Diet and nutritional intervention can improve the metabolic disorders of patients with glycogen storage diseases，ensure the growth and development of patients，and improve the quality of life.Attention should be paid to the long-term nutritional management of glycogen storage diseases.

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Dietary and nutritional intervention in mitochondrial fatty acid oxidation disorders LU Mei, LIU Deng-li 2022, 37(10): 739-743.  DOI: 10.19538/j.ek2022100606 Abstract ( )   Mitochondrial fatty acid oxidation disorders（FAODs）are a series of rare autosomal recessive inherited metabolic disorders which will cause multi-system damage of brain，liver，heart，skeletal muscle and even sudden death without timely and effective intervention. Vitamins support and dietary intervention are effective for FAODs.Avoidance of long time fasting，low fat and high carbohydrate diets，and active management of metabolic crises are basic treatment principles.The individual dietary strategies and nutrient support should be considered according to metabolic defect and individual condition. Supplement ation with L-carnitine，medium-chain triglycerides，and raw corn starch are recommended if necessary. Lifelong treatment and intensive monitoring of nutritional metabolic condition and organ function are important to reduce the metabolic crisis，disability and death caused by FAODs.

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Nutritional intervention in mitochondrial diseases YANG Wen-li, YAN Jie, FANG Fang 2022, 37(10): 743-748.  DOI: 10.19538/j.ek2022100607 Abstract ( )   Mitochondrial diseases are a group of rare multisys-tem disorders. There are no effective therapies and multidisciplinary symptomatic support is necessary.Patients with mitochondrial diseases have an inadequate nutrition intake，and malnutrition may cause secondary mitochondrial dysfunction and aggravate the disease. Evaluating the nutritional status and providing an adequate nutrition should be at the basis of any medical interventions. Moreover，nutritional supplements，ketogenic diet，etc. may improve，or stabilize，disease signs and symptoms. For this reason，medical experts in mitochondrial diseases and clinical nutritionists should work together to improve the quality of life of the patients.

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Nutritional management in patients with spinal muscular atrophy DOU Pan, XIONG Hui, LI Rong-rong, et al 2022, 37(10): 748-754.  DOI: 10.19538/j.ek2022100608 Abstract ( )   Spinal muscular atrophy（SMA）is a severe autosomal recessive inherited disease. Active nutritional th-erapy can improve nutritional metabolism and body composition of SMA patients，improve drug efficacy，protect bone and organ functions，and improve the quality of life and survival rate. In this study，based on the experience at home and abroad，the common nutrition-related complications of SMA patients were analyzed，such as abnormal weight and body composition，dysphagia，delayed gastric emptying，gastroesophageal reflux，constipation，decreased bone density，vitamin and mineral deficiencies，and disorders of carbohydrate or lipid metabolism. Nutritional diagnosis and intervention strategies were studied and it is hoped that the nutritional management of SMA patients can obtain more attention from doctors，patients and their families.

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Application of L-carnitine in various diseases in children ZHANG Hui -feng, ZHAO Wan -qing 2022, 37(10): 754-758.  DOI: 10.19538/j.ek2022100609 Abstract ( )   As an indispensable component in the human body，L-carnitine has important physiological functions and plays an important role in mitochondrial processes，fatty acid metabolism and ATP production. In the state of deficiency，mitochondrial function is damaged，cell metabolism is changed，and the functions of multiple systems in the body are affected，which in turn leads to the emergence of its various diseases. Exogenous L-carnitine supplementation can not only relieve metabolic disorders and disease state related to carnitine deficiency，but also help the body restore carnitine balance and maintain metabolism，energy balance and health. This article summarizes the use of L-carnitine in various diseases by reviewing the previous literature，in order to improve clinicians' understanding of L-carnitine.

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Lactose intolerance and dietary nutrition management LI Dong-dan, YAN Jie, YANG Yan-ling 2022, 37(10): 758-763.  DOI: 10.19538/j.ek2022100610 Abstract ( )   Lactose intolerance is a common gastrointestinal disorder. It usually occurs in children. Lactose intolerance is mainly divided into congenital，secondary，primary and developmental according to etiology. Clinical classification is closely related to treatment and prognosis. The severity of the clinical manifestations of lactose intolerance varies greatly among individuals，and is affected by various factors such as lactase expression and activity，and gastrointestinal sensitivity.Severe lactose intolerance can affect the growth of children.Restriction of lactose intake is the main treatment measure，and supplementation of exogenous lactase and β-galactosidase active probiotics can effectively relieve clinical symptoms. The symptoms of most children can be significantly alleviated through dietary adjustment. To avoid nutrient deficiencies，children should be encouraged to limit lactose and dairy products rather than completely avoid them.Children with congenital lactase deficiency need a lifelong lactose-free diet. Most people with lactose intolerance have a good prognosis.

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Clinical value of medium-chain fatty acids in abnormal fat metabolism LU Wen-yi, TANG Qing-ya 2022, 37(10): 764-766.  DOI: 10.19538/j.ek2022100611 Abstract ( )   Medium-chain fatty acids（MCFA）are fatty acids composed of 6-10 carbons. Compared with long-chain fatty acids（LCFA），MCFA show substantial metabolic differences. In the presence of deficiency of pancreatic lipase or bile salt，MCFA can still be absorbed，and can be deliuered to the liver to have rapid metabolism through portal uein，with out being incorporated into chylomicrons in the enterooytes to enter blood circulation through lymphatic system. Thus，the diet or formula containing MCFA can be used for dietary control to alleviate the disease related to abnormal fat metabolism，such as long-chain fatty acid oxidation disorders，congenital generalized lipodystrophy and impaired lymphatic chylomicron transport.

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Advances in the diagnosis and treatment of carbamoyl phosphate synthetase 1 deficiency  DONG Hui, YANG Yan-ling 2022, 37(10): 766-770.  DOI: 10.19538/j.ek2022100612 Abstract ( )   Carbamoyl phosphate synthetase 1 （CPS1）deficiency is a rare type of urea cycle disorders，resulting in varied metabolic encephalopathy and liver dysfunctions due to hyperammonemia. If not timely and correct treatment，the prognosis is poor. The rates of disability and mortality of the patients are high. This study aims to review the advances in the research on pathogenesis，clinical characteristics，diagnosis，dietary intervention，pharmaceutic treatment and liver transplantation of CPS1 deficiency，in order to further improve the understanding of the disorder.

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Clinical phenotypes and gene mutation features of TH gene-related dopa-responsive dystonia ZHANG Dong-yan, YANG Ying, NIU Xue-yang, et al 2022, 37(10): 771-775.  DOI: 10.19538/j.ek2022100613 Abstract ( )   Objective　To summarize the phenotypes and genotypes of dopa-responsive dystonia（DRD）associated with TH gene. Methods　The clinical data of children with TH gene-related DRD from January 2014 to July 2021 were collected retrospectively，and the clinical manifestations and gene detection results were analyzed. Results　A total of 10 DRD children with compound heterozygous variants of TH gene were collected.There were 13 different variants，9 of which were reported previously（p.Arg233His，p.Arg169Stop，p.Arg318X，p.Arg202His，p.Arg153*，p.Thr404Met，p.Gly247Ser，p.Gly284Ser and p.Gly216Ser），4 were novel variants，including c.738-2A>G，exon 3-8（del），p.Thr399Thr and c.580+1G>C. The onset age of 10 cases was 3 months to 10 months（median age was 4 months）. The onset symptom was paroxysmal binocular strabismus in one patient，abnormal posture in one patient，paroxysmal limb stiffness in one patient，and motor developmental delay in 7 patients. All 10 patients had motor developmental delay，7 patients had delayed language development，5 patients had paroxysmal binocular strabismus，3 patients had paroxysmal limb stiffness，2 patients had toe walking，2 patients had difficulty in stretching tongue，2 patients had salivation，2 patients had myoclonus，and one patient had valgus，one patient had paroxysmal wrist incurve.All 10 patients were treated with levodopa and benserazide hydrochloride. After the treatment，the symptoms of paroxysmal binocular strabismus，limb stiffness，difficulty in stretching tongue，salivation，non-epileptic myoclonus and paroxysmal wrist incurve in the patients disappeared.Motor development became normal in 7 patients and improved in 3 patients. Language development became normal in 2 patients and improved in 5 patients.Toe walking was disappeared in one patient，the other patient was improved.Valgus improved in one patient. Conclusion　The clinical features of TH gene-related DRD include the symptom onset in infancy，and the main manifestations are motor and language developmental delay，paroxysmal binocular strabismus and limb stiffness.Oral administration of Tevodopa & benserazide is effective.Some patients still have language or motor dysfunction and valgus.

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Prediction model of tic disorder in children based on multiple vitamin level and analysis of its clinical value DUAN Zhu-yan, WANG Jun, HUANG Gui-min, et al 2022, 37(10): 776-781.  DOI: 10.19538/j.ek2022100614 Abstract ( )   Objective　To explore the correlation between serum multivitamin concentration and TD，in order to provide a more systematic and comprehensive evidence-based evidence for clinical practice. Methods　The clinical data of 1，089 children with TD diagnosed in Children's Hospital of Capital Institute of Pediatrics from July 2018 to June 2021 were retrospectively collected （TD group）；753 patients who received health examination during the same period were selected as the control group.The serum multivitamin levels of the two groups were analyzed. The caret package of R software was used to randomly divide the two groups of children into training set and verification set in a ratio of 7：3.The levels of vitamin A（VA），vitamin B1（VB1），vitamin B2（VB2），vitamin B6（VB6），vitamin B9（VB9），vitamin B12（VB12），vitamin C（VC），vitamin D（VD）and vitamin E（VE）were compared in the training set. Construct the prediction model and verify its reliability. Results　The logistic regression risk model for children in the training set suggested that the levels of serum VA，VB1，VB2，VB6，VB12 and VD in children，male and age were independent risk factors for the occurrence of TD. Combined with the Logistic regression risk model，a visual Nomogram  was drawn. Visual nomogram suggested that age between 4-10 years old，male，and deficiency in VA，VB1，VB2，VB6 and VD had the high scores.In the training set of children's data，the C-index was 0.761（95% CI：0.708- 0.813）. It is was confirmed that the nomogram model had achieved middle and upper distinction and had clinical value. The results of Receiver Operating Characteristic curve（ROC）in the training set showed that Area Under Curve（AUC） was 0.737. Calibration Curve and Decision Curve Analysis（DCA） showed that the model had good reliability，and the ROC results in the verification set showed AUC was 0.726，indicating that the model had certain clinical reference value. Conclusion　Serum levels of VA，VB1，VB2，VB6，VB12 and VD in the children，male and age are independent risk factors for TD. It can be seen from the nomogram that male children aged 4 to 10 years old was more prone to tic disorders with insufficient or lack of VA，VB1，VB2，VB6 and VD. Therefore，the levels of  the VA，VB1，VB2，VB6 and VD in TD children are significantly related to TD；vitamin levels should should be assessed routinely in TD children in order to lay the foundation for the treatment of TD.

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First case of cardio-facio-cutaneous syndrome with intestinal malrotation in China and literature review GUO Jing, WU Jie 2022, 37(10): 782-786.  DOI: 10.19538/j.ek2022100615 Abstract ( )   Objective　To raise awareness of cardio-facio-cutaneous syndrome（CFC）. Methods　Summarize the clinical data of a case of CFC diagnosed in Beijing Children's Hospital，Capital Medical University in January 2022，and review the relevant literature. Results　CFC was rare.Its clinical manifestations included special facial features，congenital heart disease，cutaneous diseases，growth and development disorders，gastrointestinal dysfunction，neurocognitive delay and seizures，etc.Homozygous or complex heterozygous mutations in genes such as BRAF were helpful in diagnosis. At present，there was no effective treatment for this disease.Multi-disciplinary symptomatic treatment for clinical symptoms and long term follow-up are needed. Conclusion　CFC should be recognized timely.We should identify CFC by clinical manifestations，and then take a genetic test to holp diagnose CFC.Treatment for CFC is still difficult and challenging.For CFC children with feeding difficulties，assisted feeding is very important.

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Clinical characteristics of Williams-Beuren syndrome in one case and analysis of gene phenotypes LI Xiao-meng, HAN Lin, WANG Lei, et al 2022, 37(10): 787-790.  DOI: 10.19538/j.ek2022100616 Abstract ( )

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One case of rare immunodeficiency with centromeric instability and facial anomalies syndrome type I and literature review LIU Ling-ling, ZHOU Hua 2022, 37(10): 791-794.  DOI: 10.19538/j.ek2022100617 Abstract ( )

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One case of APLAID in children caused by novel mutation of PLCG2 gene YAN Shu-ting, XIE Guo-qiang, LI Jia-nan, et al 2022, 37(10): 795-797.  DOI: 10.19538/j.ek2022100618 Abstract ( )

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One case of Snyder-Robinson syndrome and literature review LI Shuai, WANG Li-ling, LI Jia-hui, et al 2022, 37(10): 798-800.  DOI: 10.19538/j.ek2022100619 Abstract ( )