Objective:To analyze the incidence and clinical phenotype of the concomitant extragenital malformations in the patients with female reproductive tract anomalies.Methods:A retrospective study was conducted using clinical data of hospitalized patients diagnosed with uterine, cervical, or vaginal malformations from January 2003 to December 2022 in Peking Union Medical College Hospital. The malformations were classified according to American Society for Reproductive Medicine müllerian anomalies classification 2021, and in each type, the incidence and specific manifestations of concomitant extragnital malformations were analyzed.Results:A total of 444 patients were included. The overall incidence of concomitant extragenital malformations was 43.5% (193/444), including urinary system, skeletal system, and other system malformations. Renal malformations on the obstructed side were present in all patients with oblique vaginal septum syndrome (100.0%, 78/78). The total incidence of concomitant extragnital malformations was as high as 8/11 in uterus didelphys, 43.5% (10/23) in unicornuate uterus, 33.6% (79/235) in Mayer-Rokitansky-Küster-Hauser syndrome, 18.8% (6/32) in septate uterus and 18.5% (12/65) in cervical agenesis. Urinary system malformations (30.6%, 136/444) and skeletal system malformations (13.5%, 60/444) were the most common concomitant malformations in all types, in which, unilateral renal agenesis and scoliosis were the most common.Conclusions:Urinary and skeletal system malformations are important features of female reproductive tract anomalies. Urologic ultrasonography and spinal roentgenogram are recommended for all patients with female reproductive tract anomalies.

With the acceleration of aging process and the increase of average life in China, the number of disabled elderly in China is also growing rapidly, which undoubtedly brings a heavy care burden and pressure to families and society.Facing the great challenges brought by aging, the increasing evidences show that only by reducing the incidence of disease and disability from the source, improving the health level of the elderly, prolonging their healthy life and realizing healthy aging, we can fundamentally alleviate the great pressure brought by the aging society.The concept of motor function maintenance and health promotion of the elderly has become an important link and breakthrough to realize healthy aging and active health.Facing the requirements of active health medicine and the development trend of science and technology in the future, it is imperative to deeply study the motion characteristics and function maintenance of the elderly, and promote the development of sports medicine with innovative technologies such as internet, big data and artificial intelligence.In the future, we will continue to improve the assessment and maintenance system for motor function of the elderly, develop and optimize functional maintenance products that meet the exercise needs of the elderly, and actively build an elderly-friendly sports environment support system, thereby promoting the healthy China strategy and realize healthy aging to the greatest extent.

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) to verify a fetus with partial 18p deletion signaled by non-invasive prenatal testing. METHODS: G-banding chromosomal karyotyping analysis was carried out on amniotic fluid sample of the fetus and peripheral blood samples from the parents. Amniotic DNA was also subjected to CMA analysis. The fetus was also subjected to systematic ultrasound scan. RESULTS: The fetus was found to have a karyotype of 46,XX,18p+. CMA has revealed a 5 Mb deletion at 18p11.32-p11.31, a 2.9 Mb duplication at 18p11.31-p11.23, and a 2.5 Mb duplication at 18p11.23-p11.22. No chromosomal aberration or microdeletion/microduplication was detected in either parent. CONCLUSION Non-invasive prenatal testing and CMA are both sensitive for the detection of chromosomal microdeletions and microduplications. CMA can help with clarification of genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.
Chromosome Deletion ; Chromosomes ; Female ; Fetus ; Humans ; Karyotyping ; Pregnancy ; Prenatal Diagnosis

Adaptation, Psychological ; Adolescent ; COVID-19 ; Child ; China ; Cross-Sectional Studies ; Female ; Humans ; Male ; SARS-CoV-2

Objective:To investigate the characteristics of consonant among children with speech sound disorder (SSD) and to provide an empirical basis for the subsequent clinical evaluation and evidence-based intervention.Methods:In this retrospective research a total of 1 395 children diagnosed with SSD from the Language-Speech Clinic of the Department of Children Health Care, Children′s Hospital, Capital Institute of Pediatrics from January 2007 to December 2018 were enrolled and underwent the phonological examination on the lexical level with picture naming, according to phoneme development in Chinese mandarin. The Chi-square trend test was applied to analyze the differences and trends of the proportion of consonant error subtypes in children of different age groups. The Chi-square test was conducted to compare the proportion of consonant error subtypes in different gender.Results:The 1 395 children diagnosed with SSD included 1 044 boys and 351 girls, with an age of (5.1±0.8) years. The occurrence of consonant errors in different locations of articulation was the highest for blade-alveolar /l/ (71.8%, 1 002/1 395) and the lowest for labial/b/(9.3%, 130/1 395). The occurrence of consonant errors of labial/p/f/, supra-dental/z/c/s/, blade-alveolar/t/l/, blade-palatal/ch/r/, velar/k/h/, and lingua-palatal/q/decreased with age (all P<0.05). The occurrence of consonant errors of labial/b/m/, supra-dental/z/c/, blade-alveolar/n/l/, blade-palatal/sh/, velar/h/, and lingua-palatal/x/were higher in boys than those in girls (10.3% (108/1 044) vs. 6.3% (22/351), 11.4% (119/1 044) vs. 6.0% (21/351), 64.8% (676/1 044) vs. 51.9% (182/351), 67.8% (708/1 044) vs. 59.8% (210/351), 16.7% (174/1 044) vs. 8.8% (31/351), 73.7% (769/1 044) vs. 66.1% (232/351), 58.0% (606/1 044) vs. 47.6% (167/351), 24.0% (251/1 044) vs. 14.2% (50/351), and 39.9% (417/1 044) vs. 27.6% (97/351); χ2 =5.167, 8.533, 16.889, 7.447, 12.863, 7.412, 11.650, 14.900, and 17.099, all P<0.05). The error types of consonant were substitution, omission, and distortion. Omission was the main error type of blade-alveolar/l/(53.3%, 743/1 395), distortion was the main error type of velar/h/(11.8%, 165/1 395), and substitution was the main error type of all other consonants. Substitution with blade-palatal/ch/having the highest occurrence of error (60.2%, 840/1 395). Conclusions:The occurrence of the blade-alveolar/l/error is the highest in children with SSD, with boys demonstrating more serious articulation problems. The main error type of consonant is substitution, with blade-palatal/ch/having the highest occurrence of error. These results suggest the necessity of attending to preschoolers′ articulation development. Phonological training targeting blade-alveolar/l/and blade-palatal/ch/should be carried out as early as possible.

Objective:To investigate the time and characteristics of screen exposure, to analyze the risk factors affecting screen exposure in children aged 3 years and younger, and to provide scientific basis for the intervention of screen exposure in children.Methods:The data were collected by convenience sampling from 317 children for routine examination aged 0-36 months who visited the Department of Child Healthcare, Children′s Hospital, Capital Institute of Pediatrics from December 2019 to December 2020. Self-designed questionnaires of the screen exposure were completed by the parents. The basic information, home nurture environment and screen exposure conditions were investigated. Children <18 months of age who used electronic devices and 18-36 months of age who spent more than 1 h/d on electronic devices were defined as with screen exposure. The differences between <18 and 18-36 months of age were compared by rank sum test. Chi-square test and multivariate Logistic regression were used to analyze the association between screen exposure and potential influential factors.Results:Among 317 children, 209 were boys and 108 girls, aged (28±10) months. There were 117 patients aged <18 months and 200 patients aged 18-36 months. Screen exposure time was 0.3 (0, 1.0) h/d and 1.2 (0.6, 2.0) h/d in children aged <18 months and aged 18-36 months, respectively ( Z=-6.770, P<0.01). The proportion of screen exposure was 25.6% (30/117) and 49.0% (98/200) in two age groups, respectively. Logistic regression analysis disclosed that not being the first child ( OR=3.81, 95% CI: 1.13-12.77, P=0.030), caregivers spending >1 h/d on electronic devices in front of their children ( OR=7.39, 95% CI: 2.24-24.46, P=0.001), caregivers believing that screen exposure can promote early childhood development ( OR=4.14, 95% CI: 1.26-13.52, P=0.019) were risk factors for children′s screen exposure in <18 months of age. Caregivers spending >1 h/d on electronic devices in front of their children ( OR=3.29, 95% CI: 1.78-6.08, P<0.01) was risk factor for children′s screen exposure in 18-36 months of age. Mothers with bachelor′s or higher degree ( OR=0.19, 95% CI: 0.05-0.66, P=0.009; OR=0.35, 95% CI: 0.19-0.66, P=0.001), no television in living room ( OR=0.11, 95% CI: 0.03-0.42, P=0.001; OR=0.45, 95% CI: 0.21-0.98, P=0.045) were protective factors for children′s screen exposure in children <18 months and 18-36 months of age. Conclusions:Excessive screen exposure is common among children aged 3 years and younger. The exposure time increases with age, and is affected by several factors.

Objective:To investigate the features and trends of functional speech sound disorder and related erroneous consonants in children, so as to provide evidence for clinical evaluation and rational intervention.Methods:Clinical data of 1 562 children diagnosed with functional speech sound disorder in the language-speech clinic of the Department of Child Health Care, Children′s Hospital, Capital Institute of Pediatrics from January 2007 to December 2018 were analyzed retrospectively. By using the mandarin phonetic test table, the picture-naming method was adopted to test the word-level pronunciation. The Chi-square test was conducted to analyze the incidence of consonant errors in different age groups, gender and different places of articulation. The trend in incidence of the consonant errors in different age groups and during the last 12 years were analyzed by chi-square trend test. Results:A total of 1 562 cases were diagnosed with functional speech sound disorder, including 1 171 males and 391 females, the age was 4-17 years. The incidence of consonant errors in different places of articulation was 43.0% (672/1 562) for labial, 47.0% (734/1 562) for lingua-palatal, 63.7% (995/1 562) for velar, 77.7% (1 213/1 562) for linguo-alveolar, 78.9% (1 233/1 562) for apico-dental and 81.6% (1 274/1 562) for palatal. The incidence of consonant errors in males on labial, lingua-palatal, linguo-alveolar and palatal was higher than that in females (44.7% (523/1 171) vs. 38.1% (149/391), 49.1% (575/1 171) vs.40.7% (159/391), 80.1% (938/1 171) vs.70.3% (275/391), 82.8% (970/1 171) vs.77.7% (304/391), χ2 =5.138, 8.379, 16.126 and 5.042,all P<0.05). The incidence of consonant errors on labial, lingua-palatal, velar, linguo-alveolar, apico-dental and palatal decreased with age (χ2 =27.023, 13.230, 20.579, 29.718, 26.390, and 17.887, all P<0.01). The incidence of consonant errors on labial, linguo-alveolar, apico-dental increased with years (χ2 =9.030, 51.894 and 18.507, all P<0.01). Conclusions:The incidence of palatal errors is the highest in children with functional speech sound disorder. As part of the palatal errors could not be completely self-healing with growing, the phonological therapy for palatal errors should be carried out as early as possible. The incidence of consonant errors on labial, linguo-alveolar, and apico-dental presents an upward tendency with years, more attention should be paid to the factors related to the acquisition of these consonants.

Objective: To analyze diagnosis rate of chronic kidney disease (CKD) in hospitalized pediatric patients in a single center and understand pediatricians′ awareness of CKD. Methods: This was a cross-sectional study. Children who were admitted to the Division of Pediatric Nephrology, Peking University First Hospital from January 1, 2008 to December 31, 2017 and met the diagnostic criteria of CKD (kidney disease: improving global outcomes 2012 guideline) were recruited. A total of 4 472 cases were enrolled. Original CKD diagnosis was collected from the home page of medical records. Actual CKD diagnosis was validated and corrected by reviewing medical records and recalculating glomerular filtration rate. The diagnosis rate and influencing factors of pediatric CKD, the distribution and etiology of actual CKD were analyzed. The comparison between groups were performed with χ² test. Results: In 4 472 cases, there were 3 470 cases in actual CKD stage 1, among which only 24 cases were in original CKD stage 1. There were 543 cases in actual CKD stage 2-3, among which only 181 cases were in original CKD stage 2-3. Three hundred and one cases were in actual CKD stage 4-5, including 290 cases in original CKD stage 4-5. In addition, there were 43 cases with unknown CKD stage and 115 cases with acute kidney injury. Compared to original CKD diagnosis, the diagnosis rates of CKD stage 1-5 were 0.7% (24/3 470), 16.7% (58/348), 63.1% (123/195), 90.7% (78/86) and 98.6% (212/215), respectively. The proportions of actual CKD stage 1-5 were 80.4% (3 470/4 314), 8.1% (348/4 314), 4.5% (195/4 314), 2.0% (86/4 314) and 5.0% (215/4 314). The etiology of actual CKD included primary glomerular disease (62.2%, 2 686/4 314), secondary glomerular disease (19.7%, 849/4 314), hereditary kidney disease (9.1%, 391/4 314), congenital abnormalities of the kidney and urinary tract (CAKUT) (3.1%, 135/4 314), tubulointerstitial disease (2.2%, 94/4 314) and etiology uncertain (2.1%, 89/4 314). The leading cause of end stage renal disease was etiology uncertain (31.1%, 67/215), followed by hereditary kidney disease (24.2%, 52/215), CAKUT (16.3%, 35/215) and primary glomerular disease (16.3%, 35/215). Conclusions Among actual CKD hospitalized pediatric patients, the diagnosis rate of CKD given by physicians at discharge was relatively low, especially patients in earlier CKD stages, which reflected serious lack of physicians′ awareness of CKD.

Objective To preliminary formulated 2017 Chinese rare disease survey list by experts consensus.Methods By using checklist methods,we selected studied diseases from five available rare disease data sources in China.By summarizing,proofreading,removing of duplicate data,the primary survey list with 344 diseases was formulated.By organizing two rounds of consensus conferences,experts voted and revised the survey list,then ultimately formulated 2017 Chinese rare disease survey list.Results According to the poll,in selected 344 rare diseases which were discussed in consensus conferences,54 diseases were suggested to be deleted,9 pairs of diseases were suggested to be incorporated.For Chinese and English names of these rare diseases,306/344 diseases conform to nomenclature by discussion.According to the experts' tips and advice,we revised the primary survey list and ultimately formulated 2017 Chinese rare disease survey list including 281 diseases.Conclusions Experts consensus combines the scientificity of methodology and clinical experience of experts.In the background of medical big data and targeted poverty alleviation,the early stage of study is in accordance with the main stream of thought for the national survey of rate disease in China.