Genetic analysis of PYGL gene variants for a child with Glycogen storage disease VI / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic basis of a patient with glycogen storage disease type VI (GSD-VI).@*METHODS@#Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples of the proband and his parents. Genetic variants were detected by using whole exome sequencing. Candidate variants were verified by Sanger sequencing followed by bioinformatics analysis.@*RESULTS@#The proband presented fasting hypoglycemia, hepatomegaly, growth retardation, transaminitis, metabolic acidosis and hyperlactatemia. Liver biopsy indicated GSD. Novel compound heterozygous PYGL gene variants (c.2089A>G/c.158_160delACT) were detected in the proband. Compound heterozygosity was confirmed by Sanger sequencing of the patient's genomic DNA. Provean and MutationTaster predicted the two variants as deleterious and the variant sites are highly conserved.@*CONCLUSION@#The compound heterozygous variants (c.2089A>G/c.158_160delACT) of PYGL gene probably underlay the GSD in the patient. The two novel variants have expanded the spectrum of PYGL gene variants and provided the basis for genetic counseling of the family.

Follow-up of nutrition support and treatment in an infant with severe malnutrition secondary to Tricho-hepato-enteric syndrome / 中华实用儿科临床杂志

Clinical data, nutrition support and 6-year follow-up results of a patient with Tricho-hepato-enteric syndrome (THES) diagnosed in the Children′s Hospital of Nanjing Medical University in December 2013 were analyzed.The patient suffered severe malnutrition, growth retardation, hypophosphatemia, hypoglobulinemia, high nutritional risk status and significant intestinal dysfunction.The genetic testing revealed SKIV2 L gene variation in this case of THES.During the acute exacerbation of diarrhea, enteral nutrition and periodical short-term parenteral nutrition were given as nutrition support.Deep-hydrolyzed formula by oral and low-fat, low-residue, high-quality-protein diet was given during the remission phase.At last, the diarrhea and nutritional status of the patient improved gradually.The growth and development, including neuromotor development of the case also caught up to children with the same age, and he was capable of schooling.It is suggested that rational individualized nutrition support can significantly improve intestinal function and nutritional status of children with THES, which overcome the dangerous period, improve the quality of life and prolong the survival time.

A case of hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis caused by a mutation in the FAM111B gene / 中华皮肤科杂志

A 2-year- and 2-month-old girl developed recurrent eczema-like rashes 7 days after birth, followed by the occurrence of poikiloderma and hair loss. Cholestasis occurred at the age of 1 month and 10 days, which was improved but serum transaminase levels were elevated after 4 months. The patient usually presented with slight sweating, heat intolerance, and delayed gross motor development. Skin examination showed generalized mottled hypo- and hyper-pigmented patches, especially in the exposed areas, and sparse hair and eyebrows. Her parents had no similar clinical manifestations. Whole-exome sequencing showed a mutation c.1883G>A (p.Ser628Asn) in the FAM111B gene in the child, which was not found in her parents. According to the typical skin lesions, abnormal liver function and genetic testing results, this patient was diagnosed with hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis, and the mutation c.1883G>A in the FAM111B gene may be the cause of the patient′s clinical manifestations. The patient received hepatoprotective therapy, sun screen intervention, rehabilitation training, etc. After 10-month follow-up, the patient still presented with skin lesions and elevated transaminases, but without other discomforts.

Clinical analysis of endoscopic treatment of non-variceal upper gastrointestinal bleeding in children / 中华实用儿科临床杂志

Objective:To analyze the clinical and endoscopic findings of non-variceal upper gastrointestinal bleeding (NVUGIB) in children and to evaluate the efficacy of endoscopic treatment.Methods:A total of 56 children with NVUGIB admitted to Children′s Hospital Affiliated to Nanjing Medical University from May 2013 to April 2018 were enrolled.After admission, they were treated with endoscopic hemostasis, and they were divided into hematemesis group(8 cases), melena group(31 cases), and hematemesis + melena group(17 cases). In every group, hemoglobin level, blood transfusion rate, helicobacter pylori infection rate, source of hemorrhage, microscopic grading, hemostasis and results were statistically analyzed which they were compared with domestic and foreign studies.Results:In terms of hemoglobin level, hematemesis group was (92.00±25.66) g/L, melena group was (70.29±19.08) g/L, hematemesis + melena group (65.12±12.62) g/L.The differences among the 3 groups were statistically significant ( F=363.301, P<0.01). For blood transfusion rate, 25.00%(2/8 cases) was in hematemesis group, 74.19%(23/31 cases) was in melena group, and 94.12%(16/17 cases) was in hematemesis + melena group.There were significant differences among the 3 groups ( χ2=13.286, P=0.002). Totally, 50 cases (89.28%) were infected with Helicobacter pylori, and there were no significant differences among the 3 groups ( χ2=2.315, P=0.314). About bleeding source, 45 cases (80.35%) suffered from duodenal bulbar ulcer, 8 cases(14.28%) experienced gastric ulcer, 3/56 cases (5.35%) had gastric duodenal compound ulcer, and there were 25 cases(44.64%) with severe digestive tract bleeding.Forrest grade Ⅰa 2/56 cases [3.57%, 2/2 cases of rebleeding (100%)], Ⅰb 10/56 cases [17.85%, 2/10 cases of rebleeding (20%)], Ⅱa 3/56 cases (5.35%), Ⅱb 4/56 cases (7.14%), Ⅱc 2/56 cases (3.57%), and Ⅲ 35/56 cases (62.5%). Forty-eight cases (85.71%) accepted injection hemostasis, 2 cases (3.57%) obtained titanium clip hemostasis, 2 cases (3.57%) had injection + titanium clip hemostasis, 2 cases (3.57%) performed injection + titanium clip + electricity hemostasis, and 2 cases (3.57%) were given injection and surgical hemostasis.Totally, 52 cases (92.85%) achieved successful endoscopic hemostasis, 2 cases (3.57%) had successful second hemostasis, and 2 cases performed surgical operation (3.57%). Conclusions:In children with NVUGIB who need endoscopic hemostasis, duodenal ulcer is the main resource, Helicobacter pylori is the main cause.Children with melena are more likely to have severe bleeding and higher transfusion rate.Endoscopy is the preferred method for diagnosis and treatment.For Forrest Ⅰa and Ⅰb, the conbination of hemostasis under endoscope is more effective.

13C-methacetin breath test for evaluating of children's liver disorder / 中华实用儿科临床杂志

Objective To explore the clinical value of 13C-methacetin breath test for the assessment of liver disorder and to analyze its predictive value to the severity of liver function injury in children.Methods Eighteen healthy children served as healthy control group,and 40 patients with different etiology and severity served as experimental group,and then the latter were divided into 2 subgroups,28 patients in Child-Pugh classification A,and 12 cases in below B(11 cases in B and 1 case in C).An oral dose of 2 mg/kg tracer 13C-methacetin was administered to each subject for the 13 C-methacetin breath test.At the same time,serum liver function markers including serum transaminase,bilirubin,albumin and prothrombin time were measured.The acquired data were analyzed by SPSS 17.0 software.Results (1) Metabolisation velocity (MV) max30 and cumulated dose (CUM) 120 in experimental group (46.64 ± 27.93,59.29 ± 30.73) were much lower than those of the healthy control group(73.56 ± 26.03,102.97 ± 41.80) (t =2.450,3.165,all P ＜0.05);(2) MVmax30 and CUM120 were closely correlated with the liver function markers of albumin,total bilirubin,direct bilirubin,prothrombin time (P ＜ 0.05);(3) MVmax30 and CUM120 could predict liver diseases in children,especially the CUM120.With CUM120 =85.80 as a cut-off value to predict liver diseases,the Youden index was 0.578 at its maximum,and the sensitivity and specificity were 77.8％ and 80.0％;(4) Compared with the Child-Pugh classification A,the CUM120 in Child-Pugh classification B and lower B was significantly lower(P ＜ 0.001);(5) CUM120 could predict the severity of liver diseases.With CUM120 =56.15 as a cut off value to predict the severity of liver diseases,the Youden index was 0.857 at its maximum,and the sensitivity and specificity were 85.7％ and 100.0％.Conclusion 13C-methacetin breath test index of CUM120 could predict liver diseases in children and the severity of liver function.

The role of esophageal multichannel intraluminal impedance monitoring for 24 hours in diagnosis of aerophagia / 中华实用儿科临床杂志

Objective To investigate the clinical characteristics of aerophagia in children,and to evaluate the effect of 24 hours esophageal multichannel intraluminal impedance monitoring in diagnosis of aerophagia.Methods The clinical data of 30 children with aerophagia hospitalized in Department of Digestive Disease,Nanjing Children's Hospital Affiliated to Nanjing Medical University from July 2005 to June 2013 were reviewed.The 24 hours esophageal multichannel intraluminal impedance monitoring was performed in 8 cases of aerophagia.The treatment of these patients normally included psychological counseling,dietary adjustment,Iactulose,Domperidone and vitamins,while Simethicone was given to the patients if normal treatment was invalid.Results Of the 30 patients,aged 2 to 13 years,averaged (8.6 ± 4.5) years,the chief complaints were abdominal distention in 30 cases (100.00％),visible or audible air swallowing in 28 cases (93.33％),repetitive belching in 27 cases (90.00％),reduced appetite in 25 cases (83.33％),constipation in 22 cases (73.33％),psychological stresses in 15 cases (50.00％),recurrent abdominal pain syndrome in 10 cases(33.33％),chronic diarrhea in 3 cases(10.00％) and acute abdominal pain in 3 cases(10.00％).Among the 30 patients,24 hours esophageal multichannel intraluminal impedance monitoring was performed in 8 cases,averaging 149.63 (47-553)times of air swallowing were recorded.In the 30 patients,24 cases (80.00％) were relieved after being treated with psychological counseling,dietary adjustment,lactulose,domperidone and vitamins,and only 6 cases(20.00％) were invalid for normal treatment but well responeded to Simethicone.Conclusions Aerophagia is a kind of functional gastrointestinal disorders in children.Abdominal distention,air swallowing,repetitive belching,reduced appetite,constipation and pain are common symptoms.It can be cured through psychological counseling management,diet modification,laxatives,propulsives and vitamins.24 hours esophageal multichannel intraluminal impedance monitoring is a useful technology in the diagnosis of aerophagia children.

Aerophagia in children / 国际儿科学杂志

Children aerophagia is a relatively rare functional gastrointestinal disease.Its main clinical manifestations are swallowing air,chronic bloating,belching and increased anal exhaust.Since lack of understanding of children aerophagia in pediatricians,it can be very easily missed or misdiagnosed in clinic.Understanding of the research status about children aerophagia means to pediatric clinical guidance.This review summarizes the causes,clinical manifestation,diagnosis and treatment of children aerophagia.