OBJECTIVES: To evaluate the effectiveness of single-balloon and double-balloon enteroscopy in diagnosing pediatric small bowel diseases and assess the diagnostic efficacy of computed tomography enterography (CTE) for small bowel diseases using enteroscopy as the reference standard. METHODS: Clinical data from 576 children who underwent enteroscopy at Hunan Children's Hospital between January 2017 and December 2023 were retrospectively collected. The children were categorized based on enteroscopy type into the single-balloon enteroscopy (SBE) group (n=457) and double-balloon enteroscopy (DBE) group (n=119), and the clinical data were compared between the two groups. The sensitivity and specificity of CTE for diagnosing small bowel diseases were evaluated using enteroscopy results as the standard. RESULTS: Among the 576 children, small bowel lesions were detected by enteroscopy in 274 children (47.6%).There was no significant difference in lesion detection rates or complication rates between the SBE and DBE groups (P>0.05), but the DBE group had deeper insertion, longer procedure time, and higher complete small bowel examination rate (P<0.05). The complication rate during enteroscopy was 4.3% (25/576), with 18 cases (3.1%) of mild complications and 7 cases (1.2%) of severe complications, which improved with symptomatic treatment, surgical, or endoscopic intervention. Among the 412 children who underwent CTE, the sensitivity and specificity for diagnosing small bowel diseases were 44.4% and 71.3%, respectively. CONCLUSIONS SBE and DBE have similar diagnostic efficacy for pediatric small bowel diseases, but DBE is preferred for suspected deep small bowel lesions and comprehensive small bowel examination. Enteroscopy in children demonstrates relatively good overall safety. CTE demonstrates relatively low sensitivity but comparatively high specificity for diagnosing small bowel diseases.
Retrospective Studies ; Treatment Outcome ; Double-Balloon Enteroscopy/statistics & numerical data* ; Single-Balloon Enteroscopy/statistics & numerical data* ; Humans ; Male ; Female ; Child ; Operative Time ; Tomography, X-Ray Computed/statistics & numerical data* ; Sensitivity and Specificity ; Intestine, Small/surgery* ; Intestinal Diseases/surgery*

AIM: To compare the efficacy of Jensen and augmented Hummelsheim procedures in the treatment of complete paralytic esotropia.METHOD: A total of 35 patients(44 eyes)who were diagnosed with complete paralytic esotropia from October 2016 to October 2020 were retrospectively analyzed, of which 15 cases(21 eyes)underwent Jensen procedure combined with recession of antagonist muscle(Jensen procedure group), and 20 cases(23 eyes)received augmented Hummelsheim procedure combined with recession of antagonist muscle(Hummelsheim procedure group). The operation time, preoperative and postoperative esotropia deviation, degree of abduction paralysis, recession of medial rectus muscle and cure rate were observed.RESULTS: Clinical data and operation time of the patients in two groups were not statistically significant(P >0.05). During the last follow-up, the esotropia deviation of Jensen procedure group decreased from 102.33±41.70PD to 3.93±4.82PD(P<0.001), and it decreased from 94.75±33.03PD to 2.85±5.96PD in Hummelsheim procedure group(P<0.001), while the degree of abduction paralysis were significantly improved from -4.81±0.40 to -1.57±0.51 in the Jensen procedure group(P<0.001)and from -4.91±0.29 to -1.22±0.42 in Hummelsheim procedure group(P<0.001). Besides, there was no statistical difference in postoperative esotropia deviation between the two groups(P>0.05), but the degree of postoperative abduction paralysis in the Hummelsheim procedure group was significantly better than that of Jensen procedure group(P<0.05). The recession of medial rectus muscle of the two groups were 7.16±2.07 and 6.37±2.34 mm, respectively(P>0.05). During the last follow-up, in the Jensen procedure group, 2 patients were undercorrection(+10PD and +12PD respectively)and 13 cases(87%)were cured. In the Hummelsheim procedure group, 1 patient was undercorrection(+25PD)and 19 patients were cured(95%), and there was no statistical significance in cure rates of the two groups(P=0.565).CONCLUSIONS: Both Jensen procedure and augmented Hummelsheim procedure can effectively treat complete paralytic esotropia, and the latter is more effective in improving the abduction paralysis.

AIM: To analyze the clinical characteristics and treatment of patients with acute acquired concomitant esotropia(AACE)in different refractive status.METHODS: A retrospective analysis was conducted on 110 patients with non-type I AACE treated from January 2020 to January 2022. The non-myopic group(30 cases, spherical equivalent>-0.5D)and the myopic group(80 cases, spherical equivalent≤-0.5D)were divided according to the refractive status. The degree of deviation, accommodative convergence and accommodation ratio(AC/A), visual function, and surgical methods were observed. RESULTS: The non-myopic group had no difference in the degree of near deviation [(47.13±23.54)△] and the degree of distant deviation [(48.90±22.59)△](P>0.05); near deviation [(40.49±26.09)△] of myopic group was less than distant deviation [(50.09±25.41)△](P<0.001); and there was no difference in the same distance between the two groups(P>0.05). AC/A in the non-myopic group(5.40±2.23)was higher than that in the myopic group(3.14±3.10; P<0.05). Patients in the myopic group had better near stereopsis than the non-myopic group(P<0.05). The non-myopic group had a variety of surgical methods, while the myopic group mostly used lateral rectus resection or/and medial rectus recession.CONCLUSION: AACE can occur in different refractive status. Non-myopic patients have the same degree of distant and near strabismus, high AC/A, and varied surgical methods. However, myopic patients have less degree of near deviation than distant deviation and have normal AC/A and better near stereopsis, and lateral rectus resection or/and medial rectus recession are commonly used.

AIM: To compare the consistency and feasibility of objective ocular torsion measured with GMPE module-based optical coherence tomography(OCT)and fundus color photography(FCP).METHODS: Patients were enrolled in our strabismus clinic from December 2020 to March 2021, and the objective ocular torsion of the eyes was measured by both GMPE module-based OCT and FCP on the same day. FCP was used to measure the fovea-disc angle(FDA)manually by using the Adobe Photoshop software, while the GMPE module-based OCT software positioned automatically the macula and the center of the optic disc to measure the FDA.RESULTS: Fifty-five patients were included, the FDA measured by OCT was -6.6°±4.5° in the right eye and -8.8°±4.7° in the left eye, respectively; The FDA measured by FCP was -6.6°±4.7° in the right eye and -8.4°±4.1° in the left eye, respectively, with no statistically significant difference between the results of the two methods(Pright eye=0.90, Pleft eye=0.08). In patients with exotropia, the FDA measured by OCT was -5.8°±4.9° in the right eye and -9.1°±4.5° in the left eye, respectively, the FDA measured by FCP was -5.7°±5.0° in the right eye and -8.6°±4.3° in the left eye, respectively,(Pright eye=0.75, Pleft eye=0.15). Similarly, the patients with esotropia, the FDA measured by OCT was -9.0°±7.3° in the right eye and -11.3°±3.5° in the left eye, respectively, while the FDA measured by FCP was -10.0°±7.0° in the right and -10.1°±2.8° in the left eye(Pright eye=0.21, Pleft eye=0.10), respectively. There were no significant differences between the two methods in patients with esotropia or exotropia(P>0.05). The results of both Pearson test and Bland-Altman analysis were highly correlated(rright eye=0.93, rleft eye=0.94, P<0.01). CONCLUSION: GMPE module-based OCT can be used for objective ocular torsion measurement with high reliability and reproducibility, and is a promising clinical alternative to the fundus color photographic method.

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Child ; China/epidemiology* ; Cryptorchidism/genetics* ; Disorders of Sex Development/genetics* ; Female ; Genital Diseases, Male ; Genotype ; Humans ; Hypospadias/genetics* ; Male ; Membrane Proteins/genetics* ; Penis/abnormalities* ; Phenotype ; Retrospective Studies ; Steroid 21-Hydroxylase/genetics*

The article was to study the effect of local photodynamics therapy combined with carbon dioxide lattice laser - "light needles" for the treatment of basal cell carcinoma (BCC). 5-Aminolevulinic acid (5-ALA) cubic liquid crystal using glyceryl monostearate (GMO) as the substrate was prepared. The cytotoxicity of 5-ALA cubic liquid crystal combined with light needles in vitro were evaluated. The pharmacodynamics study of 5-ALA cubic liquid crystal combined with light needles of high or low energy for BCC was carried out based on the pathological changes, tumor volume, vascular endothelial growth factor (VEGF) expression and the recurrence rate, which has been approved by the Ethics Committee of Beijing Institute of Radiation Medicine. The cubic liquid crystal was isotropic with the lattice of PN3M. The cytotoxicity of 5-ALA cubic liquid crystal combined with light needles was much higher than that of 5-ALA or light needles alone. Compared with light needles or photodynamic therapy alone, 5-ALA cubic liquid crystal combined with light needles of high energy could prevent the BCC metastasis and of low energy could inhibit BCC growth. It demonstrated the obvious therapeutical effects for BCC. 5-ALA cubic liquid crystal combined with light needles can effectively treat BCC, which provides a new choice for clinical BCC treatment.

The adenosine triphosphate (ATP) liposome, prepared with the methods of film dispersion and ion-pairing was evaluated for its therapeutic effect on hypoxic brain damage. The appropriate formulation is adenosine disodium triphosphate, hexadecyl trimethyl ammonium bromide, soybean phospholipid, cholesterol with mass ratio of 1∶1.98∶8∶3. The encapsulation efficiency of ATP liposome was (81.50 ± 0.82) % and the loading efficiency was (6.79 ± 0.07) %. In vitro release test and rheology test were conducted to investigate the physicochemical properties of ATP liposomes and empty gels respectively. The blank methylcellulose gel, followed with ATP liposome and ATP aqueous solution added to the methycellulose gel, were used for nasal administration in mice respectively. All experiments were approved by the Ethics Committee for Experimental Research in Academy of Military Medical Sciences. After 9 days of continuous administration, ATP liposome hydrogel increased the values of red blood cells and hemoglobin (P<0.01) compared to ATP hydrogel and blank gel. And the ATP liposome hydrogel significantly increased the standard hypoxia tolerance time in mice compared to ATP hydrogel and blank gel after 13 days of nasal administration (P<0.05). The immunohistochemical staining of mice hippocampus for the proapoptotic gene p53 showed that ATP liposome hydrogel was capable of protecting brain tissue in hypoxia. It is indicated that the prophylactic administration of ATP liposome nasal gel can significantly improve the hypoxia tolerance of mice, and the ATP liposome nasal gel was proved to be a promising anti-hypoxia preparation.

【Objective】 The purpose of this study was to investigate puberty development in β-TM patients and to analyze its clinical characteristics and influencing factors. 【Methods】 A total of 42 β-TM patients aged ≥10 years old were evaluated for their stages of puberty development by reviewing follow-up data(using the REDCAP system, the thalassemia follow-up database), questionnaire, physical examination and laboratory tests. To investigate The correlations between multiple factors, such as age, beginning age of iron chelation, iron overload and so on, and abnormal puberty development in β-TM patients, were investigated. 【Results】 Twenty-four cases of β-TM patients were diagnosed as abnormal puberty development, including 11 girls and 13 boys. The common clinical manifestations of β-TM patients with abnormal puberty development were delayed puberty development and primary amenorrhea for girls and short penis and small testicles for boys. The prevalence rate of abnormal puberty development was significantly higher in β-TM patients who had older beginning age of iron chelation, β0β0 genotype, a history of splenectomy, vitamin D deficiency and diabetes(χ² = 3.966, 5.196, 5.567, 4.714, P = 0.046, 0.023, 0.018, 0.030). The result of logistic regression analysis indicated that cardiac MRT2* < 20 ms was an independent risk factor for abnormal puberty development in β-TM patients. 【Conclusions】 Abnormal puberty development in β-TM patients is very common. Influencing factors include beginning age of iron chelation, β0β0 genotype, vitamin D deficiency, diabetes and cardiac iron deposition. Moreover, hypogonadotropic hypogonadism may be an important pathogenesis of abnormal puberty development in β-TM patients.

Objective To investigate the co-occurrence incidence,clinical features and risk predictors of autism and intellectual disability in patients with Lennox-Gastaut syndrome (LGS).Methods Sixty-four patients with LGS were recruited in our Epilepsy Center from June 2012 to June 2018.Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS) were performed to evaluate autism,while Chinese Wechsler Intelligence Scale for Children (C-WISC) and Gesell Developmental Scale were applied to estimate intelligence.The influences of different clinical factors in autism and intellectual disability were analyzed in patients with LGS.Results Among 64 patients with LGS,only three (4.7％) were diagnosed as having autism,and their average ABC and CARS scores were 80.0 and 40.0,respectively.The average ABC and CARS scores were 40.9±26.7 and 26.0±8.9 in thepatients with onset age＜one year,which were significantly higher than those in other two groups,respectively (P＜0.05).The average ABC and CARS scores in the patients accepted antiepileptic drugs (AEDs) ≥ 3 were 27.8±22.8 and 22.2±8.7,which were significantly higher than those in the patients accepted one or two kinds ofAEDs (P＜0.05).In addition,the ABC and CARS scores showed significant differences in the groups with different seizure frequency and in the groups with or without symptomatic etiologies (P＜0.05).Fifty patients (78.1％) presented different levels of intellectual disability;severe intellectual disability was the leading type,which accounted for 31.3％ (20/64);12(18.8％),7(10.9％),and 11 (17.2％) patients were with mild,moderate or profound intellectual disability,respectively.As compared with patients without intellectual disability,patients with intellectual disability had younger onset age,higher proportion of slow background activity on EEG and higher proportion of symptomatic etiologies,with significant differences (P＜0.05).Conclusion Patients are in higher risk of autism when they have earlier epilepsy onset age,higher frequency of epilepsy seizure attack,administration of AEDs ≥3 and symptomatic etiologies;early onset age is an independent risk predictor for intellectual disability of patients with LGS.

Objective To investigate the value of bacterial artificial chromosome-on-beads(BoBs) technology in the genetic analysis of early missed abortion chorionic villi. Methods Early missed abortion chorionic villi were detected with both conventional karyotyping method and BoBs technology in Peking Union Medical Hospital from July 2014 to March 2015. Compared the results of BoBs with conventional karyotyping analysis to evaluate the sensitivity, specificity and accuracy of this new method. Results (1) A total of 161 samples were tested successfully in the technology of BoBs, 131 samples were tested successfully in the method of conventional karyotyping.(2)All of the cases obtained from BoBs results in(2.7 ± 0.6) days and obtained from conventional karyotyping results in (22.5 ± 1.9) days. There was significant statistical difference between the two groups(t=123.315, P<0.01).(3)Out of 161 cases tested in BoBs, 85(52.8%, 85/161)cases had the abnormal chromosomes, including 79 cases chromosome number abnormality, 4 cases were chromosome segment deletion, 2 cases mosaic. Out of 131 cases tested successfully in conventional karyotyping, 79(60.3%, 79/131)cases had the abnormal chromosomes including 62 cases chromosome number abnormality, 17 cases other chromosome number abnormality, and the rate of chromosome abnormality between two methods was no significant differences(P=0.198).(4)Conventional karyotyping results were served as the gold standard, the accuracy of BoBs for abnormal chromosomes was 82.4%(108/131), analysed the normal chromosomes (52 cases) and chromosome number abnormality (62 cases)tested in conventional karyotyping, the accuracy of BoBs for chromosome number abnormality was 94.7%(108/114). Conclusion BoBs is a rapid reliable and easily operated method to test early missed abortion chorionic villi chromosomal abnormalities.