A method for the pretreatment and qualitative detection of 26 trace cathinone new psychoactive substances in wastewater was established and applied in actual wastewater cases. The effluent samples were eluted on the Oasis PRiME HLB solid phase extraction column by ultra-pure water drenching and methanol solution, then dried with nitrogen at 40 ℃, and finally re-dissolved with 0.1% formic acid-acetonitrile solution (95∶5), and detected by liquid chromatography-tandem mass spectrometry, The effluent sample was determined by high-performance liquid chromatography-Tandem mass spectrometry (HPLC-MS/MS) using selected reaction monitoring (SRM) mode and separated on chromatographic column UPLC BEH C18(100 mm×2.1 mm, 1.7 μm） at 35 ℃ with a mobile phase consisting of acetonitrile-0.1% formic acid in aqueous solution gradient elution. After methodological validation, the lower quantification of 26 cathinone new psychoactive substances could reach 1.50−3.00 ng/L. Among these, 21 analytes fell within the concentration range of 1.50−375.0 ng/L, while 5 were detected in the range of 3.00−750.0 ng/L, the correlation coefficient was 0.99, within-and between-batch precision was less than 7.71% and 13.91%, respectively, and the extraction recoveries were higher than 92.64% . The method is simple, accurate, and sensitive, and can be used for cathinone detection and abuse monitoring.

Objective To explore the clinical characteristics of pediatric patients with cerebral palsy(CP)who also have comorbid epilepsy.Methods A retrospective analysis was conducted on the clinical data of 155 pediatric patients with CP and comorbid epilepsy admitted to the Third Affiliated Hospital of Zhengzhou University from January 2019 to December 2022.Patients were divided into 4 groups based on CP subtype:spastic diplegia group(n=29),spastic hemiplegia group(n=33),spastic quadriplegia group(n=73),and non-spastic group(n=20).Differences in sex,season of birth,birth weight,gestational age,and the relationship between gestational age and weight were compared among the groups.Additionally,the relationships between perinatal risk factors,MRI classification system(MRICS),gross motor function classification system(GMFCS),and the age of the first onset of epilepsy with respect to CP subtype were analyzed.Results Among the 155 patients,101 were male and 54 were female.A lower proportion of patients with spastic hemiplegia was observed with a gestational age of 28-31+6 weeks compared with those with spastic diplegia and spastic quadriplegia(P=0.009).The proportion of patients with a history of asphyxia in spastic hemiplegia group was significantly lower than that in the other 3 groups,and the proportion of patients with hypoxic-ischemic encephalopathy(HIE)in spastic hemiplegia group was significantly lower than in that both spastic quadriplegia group and non-spastic group(P<0.05).The proportion of patients in spastic quadriplegia group who had their first seizure at an age of<1 year was significantly higher than that in spastic diplegic group(P=0.041).The spastic diplegia group exhibited a higher percentage of white matter damage compared with the other 3 groups,and had a lower percentage of gray matter damage compared with both spastic hemiplegic group and non-spastic group(P=0.001).The proportion of patients with GMFCS levels Ⅳ-Ⅴ in spastic quadriplegia group was higher than those in the other 3 groups(P<0.001),and the proportion of patients with levels Ⅰ-Ⅲ in spastic hemiplegia group was significantly higher than those in spastic quadriplegia group and non-spastic group(P<0.001).Conclusion Significant differences were observed among pediatric patients with different subtypes of CP and comorbid epilepsy in factors such as gestational age,history of asphyxia,HIE history,age of first seizure,MRICS classification and GMFCS levels.

Objectives:To report the sexual functional outcomes of vaginal dilation therapy in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients.Methods:From March 2020 to February 2023, 97 MRKH syndrome patients performed vaginal dilation therapy with guidance from Peking Union Medical College Hospital, and 45 of them engaged in penetrative intercourse and were included in this prospective cohort study. The Chinese version of female sexual function index (FSFI) was used to assess sexual function. Functional success was defined as FSFI>23.45. Forty age-matched healthy women were selected as controls. Kaplan-Meier survival analysis was used to calculate the median time to success. Pearson correlation analysis was used to explore the relationship between neovagina length and sexual function. Complications were collected using follow-up questionnaires.Results:The functional success rate of vaginal dilation therapy was 89% (40/45) with a median time to success of 4.3 months (95% CI: 3.0-6.1 months). Compared to controls, MRKH syndrome patients had significantly lower scores in the orgasm domain (4.72±1.01 vs 4.09±1.20; P=0.013) and pain domain (5.03±0.96 vs 4.26±0.83; P<0.001). However, there were no significant differences in the FSFI total score (26.77±2.70 vs 26.70±2.33; P=0.912), arousal domain (4.43±0.77 vs 4.56±0.63; P=0.422) and satisfaction domain (4.88±0.98 vs 4.65±0.86; P=0.269) between MRKH syndrome patients and controls. MRKH syndrome patients had significantly higher scores in the desire domain (3.33±0.85 vs 3.95±0.73; P<0.001) and lubrication domain (4.37±0.56 vs 5.20±0.67; P<0.001). The prevalence of sexual dysfunction in MRKH patients was non-inferior to controls: low desire [3% (1/40) vs 23% (9/40); P=0.007], arousal disorder [3% (1/40) vs 3% (1/40); P>0.999], lubrication disorder [5% (2/40) vs 25% (10/40); P=0.012], orgasm disorder [40% (16/40) vs 20% (8/40); P=0.051], sexual pain [30% (12/40) vs 15% (6/40); P=0.108]. Conclusions:MRKH syndrome patients undergoing non-invasive vaginal dilation therapy could achieve satisfactory sexual life. Given its high functional success rate and slight complication, vaginal dilation therapy should be recommended as the first-line option, reducing the need for unnecessary surgeries.

Objective:To summarize the clinical characteristics of 4 cases of mixed pituitary adenomas involving growth hormone(GH), prolactin(PRL), and thyroid stimulating hormone(TSH), and explore the standardized management approaches.Methods:The clinical data of four GH/PRL/TSH mixed pituitary adenoma patients diagnosed by Peking Union Medical College Hospital were retrospectively analyzed, including clinical manifestations, biochemical parameters, radiographic characteristics, as well as treatment and prognosis. Then literature review was conducted.Results:Among the 4 patients, 3 were male, with onset ages ranging from 15 to 38 years. All patients presented with coarse facial features as initial symptom. Three patients had visual impairment or visual field defects. All 4 patients had significantly elevated levels of GH and insulin-like growth factor-Ⅰ(IGF-Ⅰ). GH was not inhibited by oral glucose tolerance test. PRL concentration was over 100 ng/mL. Triiodothyronine(T 3)and thyroxine(T 4)were also elevated, while TSH was not inhibited. All pituitary adenomas in four cases were macroadenomas or giant adenomas, all of which were invasive growth, and one case developed pituitary stroke. Except for one patient who did not receive treatment in our hospital due to medical expenses, the remaining three patients underwent a combined treatment of medication and transnasal transsphenoidal pituitary adenoma resection. Among them, one patient had relief of central hyperthyroidism and hyperprolactinemia, but GH/IGF-Ⅰ did not meet the remission criteria. The other two patients had persistent non-resolution of at least 2 hormone axes. Conclusions:Patients with GH/PRL/TSH mixed pituitary adenoma were mainly characterized by coarse facial features, GH/PRL/TSH hyperfunction, large adenoma volume, low biochemical remission after surgery combined with drug treatment, and poor clinical prognosis.

Objective: To explore the clinical and genetic characteristics of children with dopa-responsive dystonia (DRD) caused by tyrosine hydroxylase (TH) gene variations. Methods: Clinical data of 9 children with DRD caused by TH gene variations diagnosed in the Department of Children Rehabilitation, the Third Affiliated Hospital of Zhengzhou University from January 2017 to August 2022 were retrospectively collected and analyzed, including the general conditions, clinical manifestations, laboratory tests, gene variations and follow-up data. Results: Of the 9 children with DRD caused by TH gene variations, 3 were males and 6 were females. The age at diagnosis was 12.0 (8.0, 15.0) months. The initial symptoms of the 8 severe patients were motor delay or degression. Clinical symptoms of the severe patients included motor delay (8 cases), truncal hypotonia (8 cases), limb muscle hypotonia (7 cases), hypokinesia (6 cases), decreased facial expression (4 cases), tremor (3 cases), limb dystonia (3 cases), diurnal fluctuation (2 cases), ptosis (2 cases), limb muscle hypertonia (1 case) and drooling (1 case). The initial symptom of the very severe patient was motor delay. Clinical symptoms of the very severe patient included motor delay, truncal hypotonia, oculogyric crises, status dystonicus, hypokinesia, decreased facial expression, and decreased sleep. Eleven TH gene variants were found, including 5 missense variants, 3 splice site variants, 2 nonsense variants, and 1 insertion variant, as well as 2 novel variants (c.941C>A (p.T314K), c.316_317insCGT (p.F106delinsSF)). Nine patients were followed up for 40 (29, 43) months, and no one was lost to follow-up. Seven of the 8 severe patients were treated by levodopa and benserazide hydrochloride tablets and 1 severe patient was treated by levodopa tablets. All the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets. Although the weight of the patients increased and the drug dosage was not increased, the curative effect remained stable and there was no obvious adverse reaction. One severe patient developed dyskinesia in the early stage of treatment with levodopa and benserazide hydrochloride tablets and it disappeared after oral administration of benzhexol hydrochloride tablets. Until the last follow-up, motor development of 7 severe patients returned to normal and 1 severe patient still had motor delay due to receiving levodopa and benserazide hydrochloride tablets for only 2 months. The very severe patient was extremely sensitive to levodopa and benserazide hydrochloride tablets and no improvement was observed in this patient. Conclusions: Most of the DRD caused by TH gene variations are severe form. The clinical manifestations are varied and easily misdiagnosed. Patients of the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets, and it takes a long time before full effects of treatment become established. Long-term effect is stable without increasing the drug dosage, and no obvious side effect is observed.
Female ; Humans ; Infant ; Male ; Benserazide/therapeutic use* ; Dystonia/genetics* ; Hypokinesia/drug therapy* ; Levodopa/pharmacology* ; Muscle Hypotonia ; Retrospective Studies ; Tyrosine 3-Monooxygenase/genetics*

OBJECTIVES: To study the clinical and genetic features of Joubert syndrome (JS) in children. METHODS: A retrospective analysis was performed on the clinical data, genetic data, and follow-up data of 20 children who were diagnosed with JS in the Department of Children's Rehabilitation, the Third Affiliated Hospital of Zhengzhou University, from January 2017 to July 2022. RESULTS: Among the 20 children with JS, there were 11 boys and 9 girls. The common clinical manifestations were developmental delay (20 children, 100%), abnormal eye movement (19 children, 95%), and hypotonia (16 children, 80%), followed by abnormal respiratory rhythm in 5 children (25%) and unusual facies (including prominent forehead, low-set ears, and triangular mouth) in 3 children (15%), and no limb deformity was observed. All 20 children (100%) had the typical "molar tooth sign" and "midline cleft syndrome" on head images, and 6 children (30%) had abnormal eye examination results. Genetic testing was performed on 7 children and revealed 6 pathogenic genes, i.e., the CPLANE1, RPGRIP1L, MKS1, CC2D2A, CEP120, and AHI1 genes. CONCLUSIONS For children with developmental delay, especially those with abnormal eye movement and hypotonia, it is recommended to perform a head imaging examination to determine the presence or absence of "molar tooth sign" and "midline cleft syndrome", so as to screen for JS to avoid missed diagnosis and misdiagnosis. There are many pathogenic genes for JS, and whole-exome sequencing can assist in the diagnosis of JS.
Male ; Female ; Humans ; Child ; Cerebellum ; Abnormalities, Multiple/genetics* ; Kidney Diseases, Cystic/genetics* ; Eye Abnormalities/genetics* ; Retina ; Retrospective Studies ; Muscle Hypotonia/genetics*

OBJECTIVE: To study the effect of rehabilitation treatment based on the International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY) Core Sets on activities of daily living in children with cerebral palsy. METHODS: The children with cerebral palsy were divided into an observation group ( RESULTS: There was no significant difference in the scores of the WeeFIM and Social-Life Abilities scales between the two groups before treatment ( CONCLUSIONS The rehabilitation treatment regimen for cerebral palsy based on the CF-CY Core Sets pays more attention to the influence of environmental factors in the process of rehabilitation and can effectively improve the activities of daily living of children with cerebral palsy.
Activities of Daily Living ; Adolescent ; Cerebral Palsy ; Child ; Child, Preschool ; Disability Evaluation ; Humans ; International Classification of Functioning, Disability and Health ; Prospective Studies

BACKGROUND: Although congenital hypothyroidism (CH) has been widely studied in Western countries, CH incidence at different administrative levels in China during the past decade remains unknown. This study aimed to update the incidence and revealed the spatial pattern of CH incidence in the mainland of China, which could be helpful in the planning and implementation of preventative measures. METHODS: The data used in our study were derived from 245 newborns screening centers that cover 30 provinces of the Chinese Newborn Screening Information System. Spatial auto-correlation was analyzed by Global Moran I and Getis-Ord Gi statistics at the provincial level. Kriging interpolation methods were applied to estimate a further detailed spatial distribution of CH incidence at city level throughout the mainland of China, and Kulldorff space scanning statistical methods were used to identify the spatial clusters of CH cases at the city level. RESULTS: A total of 91,921,334 neonates were screened from 2013 to 2018 and 42,861 cases of primary CH were identified, yielding an incidence of 4.66 per 10,000 newborns screened (95% confidence interval [CI]: 4.62-4.71). Neonates in central (risk ratio [RR] = 0.84, 95% CI: 0.82-0.85) and western districts (RR = 0.71, 95% CI: 0.69-0.73) had lower probability of CH cases compared with the eastern region. The CH incidence indicated a moderate positive global spatial autocorrelation (Global Moran I value = 0.394, P  < 0.05), and the CH cases were significantly clustered in spatial distribution. A most likely city-cluster (log-likelihood ratio [LLR] = 588.82, RR = 2.36, P  < 0.01) and 25 secondary city-clusters of high incidence were scanned. The incidence of each province and each city in the mainland of China was estimated by kriging interpolation, revealing the most affected province and city to be Zhejiang Province and Hangzhou city, respectively. CONCLUSION This study offers an insight into the space clustering of CH incidence at provincial and city scales. Future work on environmental factors need to focus on the effects of CH occurrence.
China/epidemiology* ; Cluster Analysis ; Congenital Hypothyroidism/epidemiology* ; Humans ; Incidence ; Infant, Newborn ; Retrospective Studies ; Spatial Analysis

Objective:To summarize the relationship between the clinicopathological features and prognosis of immunoglobulin A nephropathy (IgAN) after renal transplantation.Methods:A total of 34 patients with IgAN after renal transplantation confirmed by renal biopsy were enrolled. And another 34 patients with primary IgAN confirmed by initial renal biopsy were adopted as controls. Clinical and pathological features of two groups were compared to explore the relationship between clinicopathological features and prognosis of allograft IgAN.Results:As compared with primary IgAN group, renal function in allograft IgAN group included serum creatinine [(158.5±75.9) vs (84.8±26.8) umol/L], urea nitrogen [(9.7±6.1) vs (5.2±1.4) mmol/L], uric acid [(406.7±87.8) vs (359.0±92.6) umol/L], estimated glomerular filtration rate {(57.4±25.4) vs (91.2±28.6) [ml/(min·1.73m 2)]}. All were statistically significantly higher ( P<0.05) while other parameters showed no differences. Pathologically, the proportion of T1 type (50.0% vs 17.6%) of renal tubular atrophy/interstitial fibrosis was significantly higher in allograft IgAN group than control group ( P<0.05). Furthermore, univariate and multivariate Logistic regression analyses were performed between various pathological parameters and prognosis in allograft IgAN patients. It indicated that the degree of mesangial hyperplasia of patients with transplanted IgAN had a significantly negative impact on the prognosis. Conclusions:The clinicopathological features of patients with allograft IgAN show no difference from those of patients with primary IgAN. And among patients with allograft IgAN, those with severe mesangial hyperplasia often have a worse prognosis.

OBJECTIVE: To investigate the nutritional status of children with cerebral palsy (CP) and the clinical effectiveness of Subjective Global Nutritional Assessment (SGNA) in nutritional assessment of hospitalized children with CP. METHODS: A total of 208 children with CP, aged 1-5 years, who were hospitalized from April to October 2019 were enrolled as subjects. SGNA was used to investigate nutritional status, and the Z-score method recommended by the World Health Organization was used as a reference standard to validate the clinical effectiveness of SGNA. RESULTS: The detection rate of malnutrition in children with CP was 42.3% by SGNA and 39.4% by the Z-score method (P>0.05). The application of SGNA showed high consistency between different evaluators (κ=0.621, P<0.001). With the Z-score method as the reference standard, SGNA had a sensitivity of 80.5%, a specificity of 82.5%, a positive predictive value of 75.0%, and a negative predictive value of 86.7%, and high consistency was observed between the two evaluation methods (κ=0.622, P<0.001). SGNA was moderately consistent with weight-for-age Z-score and height-for-age Z-score (κ=0.495 and 0.478 respectively, P<0.001) and was poorly consistent with weight-for-height Z-score (κ=0.197, P<0.05). CONCLUSIONS There is a relatively high incidence rate of malnutrition in children with CP. SGNA can be used as a tool to assess the nutritional status of children with CP.
Cerebral Palsy ; Child ; Child, Hospitalized ; Child, Preschool ; Humans ; Infant ; Malnutrition ; Nutrition Assessment ; Nutritional Status ; Treatment Outcome