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To report a case of fructose-1, 6-bisphosphatase deficiency child with delayed diagnosis for seven years, and review the literature. A 13-year-old boy presented with recurrent episodes of hypoglycemia after infection since 6 years old, he also had convulsion and short stature. The laboratory finding revealed ketotic hypoglycemia, lactic acidosis, transient elevated ALT and UA. The genetic analysis showed compound heterozygous mutations of c. 960-961insG and c. 355G> A in FBP1 gene. Among eighteen patients reported in China, 88.9% had convulsion, 16.7% had growth retardation, the average delayed diagnosis spent 2.8 years, which could result in permanent brain damage and high death risk. The most common mutation was c. 960-961insG, followed by c. 355G>A and c. 490G>A, these mutations maybe hot spot sites of FBPl gene in China.
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OBJECTIVE@#To explore the genetic basis for a juvenile with maturity-onset diabetes of the young type 12(MODY12).@*METHODS@#High-throughput sequencing was carried out to screen for the variants. Candidate variant was verified by Sanger sequencing. Pathogenity of the variant was predicted by searching the genetic databases and analysis by using bioinformatic software.@*RESULTS@#Genetic testing indicated that the patient and his mother have both carried a heterozygous c.3976G>A variant (p.Glu1326Lys) in exon 32 of the ABCC8 gene. Prediction of the protein structure suggested the variant to be deleterious. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be uncertain significance.@*CONCLUSION@#Whether the c.3976G>A variant of the ABCC8 gene is the cause of the disease in this patient or not depends on the functional studies and more case data. Above finding has enriched the spectrum of ABCC8 gene variants.
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Humans , Diabetes Mellitus, Type 2/genetics , Genetic Testing , Genomics , High-Throughput Nucleotide Sequencing , MutationABSTRACT
Objective To explore the correlation of serum thyroid hormones with glucose and lipid metabolism in children with type 1 diabetes (T1DM) whose thyroid functions with normal.Methods 50 T1DM and 71 healthy children were enrolled in our study.Their blood glucose,lipid,HbA1c and thyroid functions were determined.Results Compared with the control group,patients with T1DM had higher low density lipoproteincholesterol (LDL-C),triglyceride(TG),fasting blood glucose (FBG) and HbA1c while with lower high density lipoprotein-cholesterol (HDL-C),thyroid Stimulating Hormone (TSH),and free triiodothyronine (FT3) (P＜0.05).In children with T1DM,TSH was positively correlated with LDL-C (r=0.175,P=0.034),total cholesterol (TC)(r=0.187,P=0.009) and TG(r=0.206,P=0.005) while negatively correlated with FBG(r=-0.187,P=O.018) and HbA1c (r=-0.264,P＜0.001).FT3 was negatively correlated with TG (r=-0.185,P=O.012),FBG (r=-0.193,P=O.O07) and HbA1c 0=-0215,P=0.002).But there were no correlations of FT4 with glucose or lipid metabolism.Conclusion TSH and FT3 are significantly correlated with glucose and lipid metabolism in children with T1DM.
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Status epilepticus(SE)is one of the most common medical emergencies in children.There has been some recent understanding of this fife-threatening condition with reference to the definition,forms of ignorable seizure,drug treatment and role of EEG monitoring.This review discusses the current information regarding the definition,diagnosis,treatment of status epilepticus and the latest advance on management of refractory SE in children.
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Objective To provide the practical basis for clinical diagnosis and treatment of patients who were admitted by green channel because of vomiting and abdominal pain. Method 268 cases with vomiting andabdominal pain ( from January 2007 to December 2008 ) who were admitted into the emergency observation unit through green channel were retrospectively analyzed, and various risk factors were considered with logistic regression model. Result Among 268 cases, 34 kinds of different diseases were found,while gastrointestinal diseases were the greatest proportion [60. 1% (161/268)] and gastroenteritis was most common reason 77.6%( 125/161 ). Between different age groups ( ≤ 3-year-old group and>3-yearold group), the overall incidence of various diseases and the profile of disease was different (P<0.05).The incidence of diseases in the digestive tract, infectious diseases and surgical between two groups was statistically different (P<0.05). Between inpatient admission and non-inpatient admission patients, single logistic regression showed that there was significantly different between the nine events (age, fever, shock,duration of symptoms, blood routine test( BRT), liver function, blood Na+, blood / urine amylase, electrocardiogram) ( P <0.05). In the regression model, all showed significant difference except BRT. Conclusion Most of patients with vomiting and abdominal pain were digestive system diseases. Patients ≤ 3years old had a higher incidence of infectious and surgical diseases. The patients who accompanied by fever,shock and laboratory tests such asliver function, blood Na +, blood / urine amylase, electrocardiogram were abnormal would have higher hospitalize rate.
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Objective To evaluatethefunctions of an emergency pediatric observation unit(OU).Method The OU located in the Second Affdiated Hospital ＆Yuying Children'Hospital of Wenzhou Medical CoHege.a pediatric tertiary care teaching hospital.The records of all patients admitted to OU and the discharge diagnoses of all patients ofinpatient unit(IU)from January to December 2006 were retrospectively analyzed.[)d(Is ratios(OR) witll 95%C1 was used to show the advantages ofOU in SOme pedian4c diSOrders.Results There were45 beds in the OU,and 348 beds in tlle IU.111e number ofthe patients in OU per year WaS 42.5%compared to IU f5471 Vs.12 881).The average number of patients in OU per bed in one year WaS 122.which was 3 times as much as the average number of patients in IU admission per bed(122 vs.37).Totally 3879(70.9%)patients in OU were discharged and 1592(29.1%)were transferred.For the olmervation patie.ts,the IIIeaIl age Was 7 years old.with 65.6%under or equal to 2 years old.The 111ean le,ch of stay(IDS)in OU was95.7 hours.Respiratory disorders(2204/5471,40.3%)and gastrointestinal problems(960/5471,17.5%)were the most common disease in OU.Of the total admission(IU and ou),diagnoses with high OU utilization were croup(73/75,97.3%),poiflonin(277/,97.2%),flsthma(128/133,96.2%),fleiZl.1lwith high fever(274/365,75.1%),enteritis/dehydration(618/726,85.1%),seizure with 110 fever(274/365,75.1%)and acute respiratory infection(486/624.77.9%).The likelihood of an OU admifor these illness vells IU addlission(adjusted for subsequent need for IU admission)was poisonings OR 43.21(26.1,71.6),P<0.001;croup 15.7(8.3,29.7),P<0.001:asthma 0R 10.5(7.0,15.8),P<0.001;seizure with high fever OR 8.5(6.5,11.1),P<0.001;seizure with no fever2.6(2.2,3.1),P<0.001;acute respiratory infection 0R 1.0(0.9,1.1),P=O.591;enteritis/dehydration 1.0(0.9 1.1),P=0.919.Conclusions The emergency OU,characterized by large ac.commodation,fast circulation and high utilization rate of bed,plays an important role in observation,treatment and hospital admission of children,esoeeially infants and young children for common pediatric diseases.The emergency observation unit is also an alternative disposition for certain pediatric diseases.The extending construefion of OU in a childrenS hospital with big population of out-/in-patients is an effective way to the hospital resources.
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Objective To evaluate the role of an emergency observation unit(OU) in pediatric care.Methods A retrospective study was conducted to evaluate the medical service of the OU for 12 months.Results During 12 months,5?471 children were admitted to the OU,which was 0.78% of all visits to the outpatient department(OD) and emergency department(ED).Of OU patients,70.9% children were discharged home and 34.6% children were discharged under 48 hours.Of OU patients,65.6% children were under 2 years old.Median length of stay was 95.7 hours.The average admission rate was 15 children per day.The patient volume per month of OU was in positive relation with the visits volume per month of OD and ED (r=0.835,P=0.001).The commonest causes for children admitted to the observation unit were pneumonia(22.2%),enteritis(13.3%) and acute upper airway infection(11.4%).Conclusion The emergency pediatric OU should be set to assess and treat young children with a variety of conditions.It is effective in relieving the problems of limited inpatient hospital bed spaces and high-volume patient visits,and helpful for limiting inappropriate hospitalization.
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OBJECTIVE To determine the pathogenic distribution and antimicrobial resistance of community acquired bacteremia in 105 children patients.METHODS Clinical profile,results of blood culture and antibiotic susceptibility test of 105 patients with community-acquired bacteremia treated from Jan 2003 to Dec 2006 were studied retrospectively.RESULTS The Gram-positive bacteria were from 58 cases which accounted for 55.2%.Most of them were Staphylococcus epidermidis,S.haemolyticus and S.hominis.The positive rate was 19.0%,15.5% and 10.3%,respectively.The Gram-negative bacilli were seen from 47 cases which accounted for 44.8%.Escherichia coli,Stenotrophomonas maltophilia and Klebsiella pneumoniae were the main microrganism in Gram-negative bacilli,the positive rate was 19.1%,14.9% and 10.6%,respectively.The resistant rate of Staphylococcus to penicillin was 100%.Their resistant rate to erythromycin was 94.7%.100% Gram-positive bacteria were susceptible to vancomycin,most of them were susceptible to ciprofloxacin,rifampicin and nitrofurantoin.The resistant rate of Gram-negative bacilli to ampicillin was 91.7%.Most of Gram-negative bacilli were susceptible to the third generation cephlosporin plus enzyme inhibitor,ciprofloxacin and imipenem.Resistance of the isolated pathogens to several commonly used antibiotics in pediatrics was observed.CONCLUSIONS We must focus on children aged under 3 years who are at risk of developing bacteremia.Empirical treatment with antibiotics is recommended only in life-threatening sepsis cases in pediatric emergency department.