Objective To assess the safety, effectiveness and predictive factors of endoscopic balloon dilatation for the treatment of esophageal stricture and esophageal achalasia in children. Methods 28 patients with esophageal stricture and esophageal achalasia treated by endoscopic balloon dilatation from January 2012 to November 2014 were included. All the patients were divided into two groups, 22 in group A (esophageal stricture) and 6 in group B (esophageal achalasia). All procedures were performed under tracheal intubation and intravenous anesthesia using the 3rd grade controlled radial expansion (CRE) balloon with gastroscope. Outcomes, including success, complications and recurrence data were recorded, and predictors for outcomes were analyzed. Results A total of EBD 57 sessions (1 to 5 per patient, 2.00 ± 1.15) were performed on 28 patients in this study. 22 patients were diagnosed with esophageal stricture (78.57%) and 6 with esophageal achalasia (21.43%). The median age was 25 months (range 0 ~ 150), and female/ male ratio was 12/16. EBD was successful in all the 28 cases. The total success rate was 100.00%. Complications occurred in 6 patients during the dilatation, and no complication in 22 patients. Completely remission of symptoms was seen in 82.14% cases (n = 23), relief in 14.28% (n = 4), non-response in 3.57% (n = 1), and recurrence in 3.57% (n = 1). The stricture diameter before EBD was (6.28 ± 1.77) mm (range 3.0 ~ 10.0 mm), and it was (10.85 ± 2.51) (range 6 ~ 15 mm) after the last EBD. The difference was significant (P < 0.01). There was no significant difference in success, effectiveness, complications and recurrence among the two groups (P > 0.05). The effectiveness of EBD was significantly associated with the diameter and number of strictures (P < 0.05), more complications were seen in the patients with multiple and/or smaller strictures (P < 0.05). In group A, the longer interval between surgery and the first EBD was related to more dilatation in the patients with anastomotic esophageal strictures (P < 0.05). The age and the interval between symptom onset and the first EBD were not the predicting factors for treatment in group B (P > 0.05). Conclusions The results of this study indicated that EBD under general anesthesia was an effective primary treatment in children with esophageal stricture and esophageal achalasia. The diameter and number of stricture were the most important predictive factors for successful clinical outcomes, while the interval between surgery and the first EBD was the most risk factor for EBD sessions in the patients with anastomotic esophageal strictures.

OBJECTIVE: To explore the clinical phenotype, genetic variant, treatment and prognosis of a child with mosaic variegated aneuploidy syndrome (MVAS). METHODS: Immunological marker screening, chromosomal karyotyping and whole exome sequencing were carried out. RESULTS: The 1-year-11-month old girl has featured severe growth retardation, feeding difficulty, short stature, microcephaly, facial anomalies, scoliosis, visual impairment, hypotonia, chylothorax, and renal lesions. Karyotype analysis of peripheral blood lymphocytes has discovered variegated aneuploidy cells (6/11). DNA sequencing has identified compound heterozygous c.826delG (p.Asp276Metfs*21) and c.2441G>A (p.Arg814His) variants in the BUB1B gene, which were inherited from her father and mother, respectively. CONCLUSION The compound heterozygous variants of the BUB1B gene probably underlie the pathogenesis in this patient.
Aneuploidy ; Chromosome Disorders ; diagnosis ; genetics ; DNA Mutational Analysis ; Female ; Genetic Testing ; Humans ; Infant ; Mosaicism

OBJECTIVETo explore the clinical characteristics of a patient with Sensenbrenner syndrome (also called cranioectodermal dysplasia type 3) caused by mutation of intraflagellar transport (IFT) 43 gene.

METHODSThe clinical data of the patient was retrospectively analyzed. The target genes was the patient were captured and subjected to next generation sequencing. Suspected mutations were verified through Sanger sequencing.

RESULTSThe patient, a-13 year-and-5-month-old girl, was admitted for anemia and renal dysfunction for 8 months. Clinically, she has featured short stature, short limbs, brachydactylia, tooth agenesis, and retinal dystrophy, high-degree myopia, and chronic renal failure. Gene sequencing showed that she has carried a homozygous c.1A>G (p.M1V) mutation of the IFT43 gene, for which both of her parents were heterozygous carriers.

CONCLUSIONc.1A>G (p.M1V) mutation of the C14ORF179/IFT43 gene is the cause for praecox chronic renal failure in children. Genetic testing can facilitate the diagnosis of this rare disorder. For affected families, prenatal diagnosis should be provided.

Objective To explore the clinical features and genetic characteristics of primary immunodeficiency disease (PIDs) with skin symptoms in children. Methods The clinical data of PIDs with skin symptoms in 15 children from January 2014 to March 2017 were analyzed retrospectively. Results The median age at onset in 15 children was 4 months (neonatal period to 11 years 8 months). All of them showed obvious skin symptoms, including eczema or chilblain rash, pustular psoriasis, skin infections, subcutaneous hemorrhage or skin ecchymosis, ichthyosiform erythroderma, progeroid appearance, or other cutaneous vasculitis. The accompanying manifeslations included recurrent infections, auto inflammation, autoimmunity, growth retardation, or lymphoid proliferation, and impairment of brain, lung, kidney and other important organs. Eosinophil counts were increased in 5 children, IgE levels were elevated in 5 children, and 4 children were abnormal in both indicators. Gene detection showed WAS, RNASEH2C, NLRP12, IL36RN, NRAS, PIK3CD, STAT1, FOXP3, STAT3, DOCK8, TYK2, SPINK5, NBAS or ITGB2 gene mutations, respectively. Two children died from multiple organ dysfunction syndrome, 1 child was lost for follow up, the remaining 12 children survived and were under the individualized treatment. Conclusions A variety of PIDs can have skin symptoms. When accompanied by recurrent infections, auto inflammation, autoimmune, growth retardation, or lymph proliferation, PIDs should be considered, and gene detection is helpful for the diagnosis.

Objective Establishment and evaluation of a mouse model of aldosterone-induced multi-organ damage.Methods Twenty mice were randomly divided into four groups,with five mice in each group:a blank control group(0 μg/(kg·d)),a low-dose aldosterone group(150 μg/(kg·d))),a medium-dose aldosterone group(300 μg/(kg d)),and a high-dose aldosterone group(450 pug/(kg·d)).Aldosterone-containing osmotic minipumps were surgically implanted under the skin,and aldosterone was infused for 4 weeks to establish the aldosterone-induced damage model.The body weight and blood pressure of the mice were recorded weekly.After the 4 week modeling period,the mice were euthanized,and their tissues were collected for observation and analysis of blood pressure and histological morphology of various organs.Results(1)After 4 weeks of aldosterone infusion,the serum aldosterone levels were significantly increased in the medium-dose and high-dose aldosterone groups,but not in the low-dose aldosterone group.(2)After the implantation of osmotic minipumps,the systolic blood pressure was significantly increased in the low-dose,medium-dose,and high-dose aldosterone groups during the second and third weeks,but decreased in all these groups during the fourth week.(3)The kidney and heart in the low-dose,medium-dose,and high-dose aldosterone groups showed varying degrees of damage,interstitial edema,collagen deposition,and fibrotic lesions.The liver in the low-dose aldosterone group showed a small amount of collagen deposition,while the medium-dose and high-dose aldosterone groups showed varying degrees of hepatocyte damage,collagen deposition,and fibrotic lesions.Conclusions Aldosterone can induce multi-organ damage in mice.Under this modeling method,organ damage is mainly manifested as edema,collagen deposition,and fibrotic lesions.

Objective:To explore the clinical characteristics and risk factors of pediatric patients with Wiskott-Aldrich syndrome (WAS).Methods:This was a case-control study. Clinical data of 165 cases of pediatric patients with WAS, who visited the Department of Rheumatology, Children′s Hospital of Chongqing Medical University between January 2007 and August 2020 were retrospectively analyzed and divided into death group and survival group (control group) according to the prognosis in the follow-up. Two independent samples t-test, Welch approximate t-test, Mann-Whitney U test, Pearson χ2 test, Yates corrected χ2 test, or Fisher exact probability test were used for comparison between groups. Risk factors were analyzed by multivariate Logistic regression analysis. Results:A total of 165 patients with Wiskott-Aldrich syndrome were enrolled in this study, including 40 cases in the death group and 125 cases in the survival group. The WAS score was (4.1±0.8) score in the death group and (3.1±1.2) score in the survival group. The age was 19 (9, 28) months in the death group and 60 (36,86) in the survival group. The episode rates of recurrent infection and (or) severe infection, intracranial hemorrhage and eczema in the death group were significantly higher than those in the survival group (95.0% (38/40) vs.32.0% (40/125),25.0% (10/40) vs. 2.4% (3/125), 90.0% (36/40) vs. 72.0% (90/125), χ2=48.253, 18.325, 5.440, all P<0.05). Infection (22 cases, 55.0%) and intracerebral hemorrhage (15 cases, 37.5%) were the main causes of death, 3 cases (7.5%) died of severe graft-versus-host disease after transplantation. The Logistic regression model indicated that repeated infection and (or) severe infection and non-use of intravenous immunoglobulin (IVIG) replacement therapy were risk factors for death in Chinese WAS patients ( OR values were 8.999 and 2.860, 95% CI were (2.041-39.667) and (1.375-5.950), respectively, all P<0.05). Conclusions:Recurrent and (or) severe infection is the main risk factor of death for WAS patietns. Regular IVIG treatment can improve the survival rate of patients with WAS.