Short-term efficacy of empagliflozin in children with glycogen storage disease type Ⅰb / 中华儿科杂志

Objective: To analyze the short-time efficacy of empagliflozin in the treatment of glycogen storage disease type Ⅰb (GSD Ⅰb). Methods: In this prospective open-label single-arm study, the data of 4 patients were collected from the pediatric department in Peking Union Medical College Hospital from December 2020 to December 2022. All of them were diagnosed by gene sequencing and had neutropenia. These patients received empagliflozin treatment. Their clinical symptoms such as height and weight increase, abdominal pain, diarrhea, oral ulcer, infection times, and drug applications were recorded at 2 weeks, 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, and 15 months after treatment to assess the therapeutic effect. The liquid chromatography-tandem mass spectrometry method was used to monitor the changes in 1, 5-anhydroglucitol (1, 5AG) concentration in plasma. At the same time, adverse reactions such as hypoglycemia and urinary tract infection were closely followed up and monitored. Results: The 4 patients with GSD Ⅰb were 15, 14, 4 and 14 years old, respectively at the beginning of empagliflozin treatment, and were followed up for 15, 15, 12 and 6 months, respectively. Maintenance dose range of empagliflozin was 0.24-0.39 mg/(kg·d). The frequency of diarrhea and abdominal pain decreased in cases 2, 3, and 4 at 1, 2 and 3 months of treatment, respectively. Their height and weight increased at different degrees.The absolute count of neutrophils increased from 0.84×109, 0.50×109, 0.48×109, 0.48×109/L to 1.48×109, 3.04×109, 1.10×109, 0.73×109/L, respectively. Granulocyte colony-stimulating factor was gradually reduced in 1 patients and stopped in 3 patient. Plasma 1, 5 AG levels in 2 children were significantly decreased after administration of empagliflozin (from 46.3 mg/L to 9.6 mg/L in case 2, and from 56.1 mg/L to 15.0 mg/L in case 3). All 4 patients had no adverse reactions such as hypoglycemia, abnormal liver or kidney function, or urinary system infection. Conclusion: In short-term observation, empagliflozin can improve the symptoms of GSD Ⅰb oral ulcers, abdominal pain, diarrhea, and recurrent infection, also can alleviate neutropenia and decrease 1, 5AG concentration in plasma, with favorable safety.

Therapeutic effect analysis of skeletal class Ⅲ malocclusion treatment by transmission straight wire technique / 华西口腔医学杂志

OBJECTIVE@#This study aimed to investigate the therapeutic effects and advantages of skeletal class Ⅲ malocclusion treatment by transmission straight wire technique.@*METHODS@#Ninety-seven patients who received treatment for skeletal class Ⅲ malocclusion at the Department of Stomatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2012 to January 2017 were selected for this retrospective study. All these patients refused surgery. They were divided into two groups in accordance with the type of skeletal malocclusion: mild-to-moderate skeletal malocclusion group (-4°≤ANB <0°) and severe skeletal malocclusion group (-8°≤ANB<-4°). Each of the two groups was divided further into two small groups in accordance with the technique used: T group (transmission straight wire technique) and M group (MBT technique).@*RESULTS@#The crossbite of all 59 patients in the mild-to-moderate skeletal malocclusion group was successfully treated. The molars were classified as classⅠrelationship, and the facial profile improved. Significant differences were found in the values of U1/SN angle, L1/MP angle, and Lip-Diff between the T and M groups before and after the treatment (P<0.05). The extent of incisor root resorption was lighter in the T group than in the M group (P<0.05). In the severe skeletal malocclusion group, the crossbite of all 38 patients was cured or partially cured. Fourteen patients showed severe lower anterior teeth inclination (five in the T group and nine in the M group), and the profiles did not significantly improve. Significant differences were observed in the values of U1-NA value, U1/SN angle, L1-NB value, L1/MP angle, LLP, and Lip-Diff between the T and M groups before and after the treatment (P<0.05). The extent of incisor root resorption was lighter in the T group than in the M group (P<0.05).@*CONCLUSIONS@#Relative to the MBT technique, the transmission straight wire technique has great advantages in improving facial profile, reducing the compensatory inclination of the upper and lower anterior teeth, and reducing the risk of root resorption in the treatment of skeletal class Ⅲ malocclusion.

Clinical features and TTC21B genotype of a child with nephronophthisis type 12 / 中国当代儿科杂志

Nephronophthisis (NPHP) is a group of autosomal recessive tubulointerstitial cystic kidney disorders. This article reports a case of NPHP type 12 caused by TTC21B mutations. The girl had an insidious onset, with moderate proteinuria, renal dysfunction, stage 2 hypertension, situs inversus, and short phalanges when she visited the hospital for the first time at the age of 3 years and 6 months. The renal lesions progressed to end-stage renal disease (ESRD) before she was 4 years old. Urine protein electrophoresis showed glomerular proteinuria. There were significant increases in urinary β2-microglobulin and α1-microglobulin. Gene detection revealed two compound heterozygous mutations, c.1552T>C (p.C518R) and c.752T>G (p.M251R), in the TTC21B gene, which came from her father and mother respectively. The c.752T>G mutation was a novel mutation. It is concluded that besides typical tubular changes of NPHP, marked glomerular damage is also observed in patients with TTC21B gene mutations.

Clinical and genetic analysis of Dent disease in 4 Chinese children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the clinical features and gene mutations of 4 Chinese children with Dent disease.</p><p><b>METHODS</b>The clinical and laboratory data of 4 children with Dent disease were analyzed retrospectively. Genetic testing of the 4 cases was carried out.</p><p><b>RESULTS</b>All of 4 cases were boys. The first impression of Cases 1-3 was Fanconi syndrome. Proteinuria was presented as the first impression in Case 4. All 4 boys presented with low-molecular weight proteinuria (LMWP) and hypercalciuria, including 3 cases with hematuria, 1 case with kidney stones, 2 cases with nephrocalcinosis, 3 cases with hypophosphatemia, and 3 cases with rickets. Mutations of the CLCN5 gene were revealed in three patients (Cases 1, 2 and 4), including exon 6-7del, c.785_787de l(p.263del Leu) and c.1039 C>T (p.Arg347Term). The first two gene mutations had never reported before.</p><p><b>CONCLUSIONS</b>Urine protein electrophoresis should be carried out for patients with proteinuria. Dent disease should be taken into consideration when patients with Fanconi syndrome have hypercalciuria, nephrocalcinosis or kindey stones. Genetic analyses are needed for a definite diagnosis.</p>

Treatment for juvenile systemic sclerosis of children / 中国小儿急救医学

Juvenile systemic sclerosis (SSc) is a chronic connective tissue disease characterized by symmetrical thickening and hardening of the skin,associated with fibrous changes in internal organs.In the last years,several therapies have showed promising beneficial effects in the treatment of SSc.We summarized the recent advances in the anti-inflammation and immunosuppressive therapy,treatment of SSc related vascular diseases,anti-fibrosis therapy as well as prospective treatments.

Survey of salt iodine content and analysis of its appropriate level for the general population in Enshi Autonomous prefecture, Hubei province / 中国地方病学杂志

Objective To work out the suitable iodine content in iodized salt among general population in Enshi Autonomous prefecture,Hubei province by determination of the iodine content in salt.Methods The method of direct titration was used to determine the iodine content in salt samples collected from residents in natural villages sampled from four directions of east,west,south and north in each township which was sampled from five directions of east,west,south,north and center in each city(county) in Enshi Autonomous prefecture,and salt samples were collected in Hubei Salt Industry Group Co.,Limited.Enshi Branch in 2011.The method of three-days weighing was used to estimate the resident's daily per capita intake of iodized salt.The appropriate iodine content for general population in salt was worked out according to the iodine content in salt from households and enterprises in Enshi Autonomous prefecture,the amount of iodine loss in iodized salt,the amount of per capita daily intake of iodized salt and the national iodine nutrition monitoring results.Results The median of iodine content in salt from residents and the production enterprises in 2011 was 33.5 mg/kg and 34.7 mg/kg,respectively.The residents' per capita salt intake was 10.9 g,actual intake of iodine wss 335.0 μg/d.Iodine content in iodized salt was 20 mg/kg ±30％ for the general population,actual intake of iodine was 149.4-250.4 μg/d.Conclusions The residents iodine intake is higher in Enshi Autonomous prefecture.Considering the comprehensive factors,including food iodine,water iodine,and iodine cooking loss,that affect the intake of salt iodine,the appropriate iodine content in iodized salt is 20 mg/kg ± 30％ for the general population.

Study on the pharmacolinetics,tissue distridution and excretion of nerve growsth factof in mice / 第二军医大学学报

Objective:To study the pharmacokinetics,thissue distribution and secretion of nerve growth factor(NGF)in mice.Methods:The conecntration of NGF in various body fluids and tissue were determined by isotope tracer combined SDSPAGE method.Results:The plasma concenmtration-time curve was in accordance with the two-compartment pharmacokinetic model.The elimation half-life(t1/2β)was 3.1.The half-life of distribution(t1/2ka)was 5min.Tpeak was 25 min.AUC was 72.4 mg·kg-1·h-1.The concentrations of NGF were high in thyroid,blood,submaxillary glands,superior cervical ganglion,adrenasl and kidneys.Conclusion:NGF has a wide distribution,high tissue concentrationa nd excrtet mainly through the urine.

Study on the pharmacolinetics,tissue distridution and excretion of nerve growsth factof in mice / 第二军医大学学报

Objective:To study the pharmacokinetics,thissue distribution and secretion of nerve growth factor(NGF)in mice.Methods:The conecntration of NGF in various body fluids and tissue were determined by isotope tracer combined SDSPAGE method.Results:The plasma concenmtration-time curve was in accordance with the two-compartment pharmacokinetic model.The elimation half-life(t1/2β)was 3.1.The half-life of distribution(t1/2ka)was 5min.Tpeak was 25 min.AUC was 72.4 mg·kg-1·h-1.The concentrations of NGF were high in thyroid,blood,submaxillary glands,superior cervical ganglion,adrenasl and kidneys.Conclusion:NGF has a wide distribution,high tissue concentrationa nd excrtet mainly through the urine.