1.Summary of International Classification of Functioning, Disability and Health core sets for individuals with attention deficit hyperactivity disorder
Yanping TIAN ; Wei LI ; Qinghong LI ; Haofan XU ; Shunbo YANG ; Yanmei LAI ; Jia′na WU ; Jindi YANG ; Sufen HU ; Zhihai LYU ; Zhimei JIANG
Chinese Journal of Applied Clinical Pediatrics 2024;39(11):831-836
Attention deficit hyperactivity disorder is a common neurodevelopmental disorder characterized by persistent attention deficit, hyperactivity, and impulsive behaviors that are not consistent with developmental age.Academic and vocational difficulties, social exclusion, and delinquent behaviors are manifested in daily life.It is also commonly accompanied by psychiatric problems.At the same time, mental problems are common, and the overall quality of life is greatly affected, placing a heavy burden on society as well as the family.International attention deficit hyperactivity disorder experts have developed a common and comprehensive International Classification of Functioning, Disability and Health core set of classifications for assessing individual functioning in attention deficit hyperactivity disorder.
2.Irregular Menstruation-Hirsutism-Infertility: Clinical Management of Non-Classic Congenital Adrenal Hyperplasia
Zhimei NIE ; Jianxin DOU ; Jin DU ; Weijun GU ; Zhaohui LYU ; Jingtao DOU ; Yiming MU
JOURNAL OF RARE DISEASES 2023;2(3):420-426
A 38-year-old female presented with irregular menstruation and hirsutism that started at age of 16 and diagnosed with polycystic ovary syndrome at age of 29 with elevated testosterone. When treated with ethinestradiol cyproterone tablets, her menstruation returned to normal and androgen levels was not changed. At age of 38 she was referred to the hospital with infertility, a diagnosis of nonclassical 21-hydroxylase deficiency was confirmed using 17-hydroxyprogesterone, dehydroepiandrosterone-sulfate, a cosyntropin-stimulation test and genetic test. This case suggested that nonclassical congenital adrenal hyperplasia should be considered when a patient is presented with oligomenorrhea, hirsutism with hyperandrogenemia and infertility.
3.Paroxysmal kinesigenic dyskinesia secondary to pseudohypoparathyroidism: a report of 2 cases and literature review
Qiulei CHEN ; Shiwen WENG ; Na WANG ; Zhimei LI ; Xiaoqiu SHAO ; Qun WANG ; Ruijuan LYU
Chinese Journal of Neurology 2023;56(10):1119-1127
Objective:To explore the clinical characteristics of paroxysmal kinesigenic dyskinesia (PKD) secondary to pseudohypoparathyroidism (PHP), so as to improve the clinicians′ understanding of the disease.Methods:The clinical data of 2 cases of PKD secondary to PHP in Beijing Tiantan Hospital, Capital Medical University from June 2022 to October 2022 were summarized, and the related literature was reviewed to analyze the pathogenesis, clinical manifestations, laboratory examination and imaging characteristics of the disease, as well as its treatment and prognosis.Results:Ten cases of PKD secondary to PHP were previously reported. A total of 12 cases (including these 2 cases) were included in the study, of which 7 were males (7/12) and 5 were females (5/12). The onset age was 8-23 years. The clinical manifestations of the disease included paroxysmal limb torsion, limb stiffness, limb tremor, throwing movements, and dance like movements. There were 3 cases (3/12) who had seizure at the same time. Ten cases (10/12) were induced by exercise, while 2 cases (2/12) were not mentioned the inducing factor. Eleven cases (11/12) with paroxysmal symptoms lasting less than 2 minutes can be relieved automatically. Only 1 case had a family history. Laboratory examination of all patients showed low calcium, high phosphorus and significant elevation of parathyroid hormone. The head CT scans of 10 cases (10/12) showed multiple intracranial calcifications. There were 9 cases (9/12) alone received the supplementation of calcium and active vitamin D, while 3 cases (3/12) were additionally treated with antiepileptic drugs. All cases had good prognosis.Conclusions:PHP is a rare cause of secondary PKD. A small number of patients can have seizures at the same time. Most patients have a good prognosis after receiving calcium and active vitamin D supplementation.
4.Absence status epilepsy: a case report and literature review
Na WANG ; Hongru WANG ; Xiaoqiu SHAO ; Zhimei LI ; Qun WANG ; Ruijuan LYU
Chinese Journal of Neurology 2023;56(10):1166-1173
Objective:To improve the knowledge of clinicians about absence status epilepsy (ASE).Methods:The ictal clinical manifestations, the interictal and ictal phase electroencephalogram (EEG) characteristics of 1 patient with ASE in the Department of Epilepsy, Beijing Tiantan Hospital, Capital Medical University on November 20, 2022 were analyzed, and the pathogenesis, clinical and EEG characteristics, differential diagnosis, treatment experience of ASE were summarized by retrospective analysis combined with previous literature review.Results:The patient was a 38-year female, with onset age of 18 years. The main clinical manifestations were repeated prolonged decline of consciousness with generalized tonic-clonic seizures. The long-range video EEG showed generalized spike-slow wave and slow wave sporadic in the interictal period, and continuous or sub-continuous 2.5-3.0 Hz generalized spike-slow wave discharge in the ictal period, and the laboratory and imaging findings were normal. A total of 17 patients consistent with ASE diagnosis were reported in 7 English literatures, and there were totally 18 cases (including this patient) analyzed in this paper. ASE is a specific subtype of idiopathic generalized epilepsy (IGE). The ratio of male to female was 1∶1. The onset age of 16/18 patients was in youth to middle age, and the average onset age was 25.3 years. Absence status epilepticus was the representative or main seizure type, and 15/18 patients presented with infrequent generalized tonic-clonic seizures, no independent myoclonic seizures were found. The interictal EEG showed generalized or incomplete generalized spike-wave or poly spike-wave discharges around 3.0 Hz under normal background, and may have focal non-localizing discharges. The ictal EEG presented as continuous or sub-continuous rhythmical or non-rhythmical≥2.5 Hz (mainly 2-4 Hz) generalized spike or poly spike-wave discharges. ASE mainly needed to be distinguished from de novo late-onset absence status epilepticus, adult IGE with phantom absences. The first choice of drugs included valproate sodium and lamotrigine. The correct drug selection resulted in better prognosis. Conclusions:ASE is clinically rare. By far, its pathogenesis is not well understood. ASE can easily be misdiagnosed as non-epileptic or focal seizure. For patients with late onset, infrequent generalized tonic-clonic seizures who are clinically consistent with IGE, ASE is necessary to be vigilant when there are long-term changes in consciousness, response ability and behavior. Long-term video EEG monitoring should be perfected in time to avoid misdiagnosis and mistreatment.
5.Analysis of the occurrence and influencing factors of immune checkpoint inhibitor-related kidney injury
Nan GUO ; Ping GAO ; Haobin JIN ; Jia SHENG ; Yaru SHI ; Yunyan BI ; Zhimei LYU ; Wen ZHANG
Adverse Drug Reactions Journal 2023;25(4):197-203
Objective:To explore the characteristics and factors affecting the occurrence of renal injury in patients with abnormal biochemical indexes of renal function after the use of immune checkpoint inhibitors (ICIs), and to provide reference for selection of clinical treatment regimen.Methods:Patients who were treated with immune checkpoint inhibitors researched and developed independently in China including camrelizumab, sintilimab, tislelizumab, and toripalimab from March 1, 2021 to February 28, 2022 and showed estimated glomerular filtration rate (eGFR) <90 ml/(min·1.73 m 2) and/or serum creatinine (Scr)>105 μmol/L were retrieved from the China Hospital Pharmacovigilance System. The clinical data including general information, anti-tumor treatment regimen, laboratory test results, and concomitant medications were collected. Patients were divided into kidney injury group and non-kidney injury group, and all the clinical characteristics were compared between the 2 groups, the influencing factors of kidney injury were analyzed using a binary logistic regression model, the odds ratio ( OR) and its 95% confidence interval ( CI) were calculated. Results:A total of 222 patients were entered in the analysis, including 170 males and 52 females, with a median age of 67 (36, 85) years. Of them, 144 patients were treated with carrilizumab, 38 with sindilizumab, 31 with tirelizumab, and 9 with treprolizumab; 29 patients (13.1%) developed kidney injury, including 26 cases of grade 1 and 3 cases of grade 2 renal injuries; the time of renal injury occurrence was 19-355 days after the first application of ICIs, and the median time was 108 days. After diagnosed of kidney injury, 13 out of 29 patients stopped ICIs, of which 6 had recovered kidney function and 7 had no improvement; 16 patients continued the ICIs treatment, of which 10 patients had recovered or improved kidney function and 6 had no improvement. The clinical characteristics of patients in the 2 groups were compared, and 10 variables including age, gender, baseline renal function, previous use of carboplatin, previous radiotherapy, combined chemotherapy containing cisplatin, combined paclitaxel chemotherapy, combined tyrosine kinase inhibitor (TKI) anti-vascular therapy, combined proton pump inhibitors, and combined radiotherapy were screened for the binary logistic regression analysis. The results showed that female ( OR=3.046, 95% CI: 1.149-8.077), ≤65 years ( OR=3.649, 95% CI: 1.435-9.274), combined TKI anti-vascular therapy ( OR=4.773, 95% CI: 1.496-15.227), and combined radiotherapy ( OR=8.655, 95% CI: 1.268-59.076) were independent risk factors for the development of kidney injury. Conclusions:The incidence of kidney injury in patients with eGFR <90 ml/(min·1.73 m 2) and/or Scr >105 μmol/L after using ICIs is 13.1%. In these patients, female, ≤65 years, combined TKI anti-vascular therapy, and combined radiotherapy may be risk factors for the development of ICI-associated kidney injury.
6.Analysis of the occurrence and influencing factors of immune checkpoint inhibitor-related kidney injury
Nan GUO ; Ping GAO ; Haobin JIN ; Jia SHENG ; Yaru SHI ; Yunyan BI ; Zhimei LYU ; Wen ZHANG
Adverse Drug Reactions Journal 2023;25(4):197-203
Objective:To explore the characteristics and factors affecting the occurrence of renal injury in patients with abnormal biochemical indexes of renal function after the use of immune checkpoint inhibitors (ICIs), and to provide reference for selection of clinical treatment regimen.Methods:Patients who were treated with immune checkpoint inhibitors researched and developed independently in China including camrelizumab, sintilimab, tislelizumab, and toripalimab from March 1, 2021 to February 28, 2022 and showed estimated glomerular filtration rate (eGFR) <90 ml/(min·1.73 m 2) and/or serum creatinine (Scr)>105 μmol/L were retrieved from the China Hospital Pharmacovigilance System. The clinical data including general information, anti-tumor treatment regimen, laboratory test results, and concomitant medications were collected. Patients were divided into kidney injury group and non-kidney injury group, and all the clinical characteristics were compared between the 2 groups, the influencing factors of kidney injury were analyzed using a binary logistic regression model, the odds ratio ( OR) and its 95% confidence interval ( CI) were calculated. Results:A total of 222 patients were entered in the analysis, including 170 males and 52 females, with a median age of 67 (36, 85) years. Of them, 144 patients were treated with carrilizumab, 38 with sindilizumab, 31 with tirelizumab, and 9 with treprolizumab; 29 patients (13.1%) developed kidney injury, including 26 cases of grade 1 and 3 cases of grade 2 renal injuries; the time of renal injury occurrence was 19-355 days after the first application of ICIs, and the median time was 108 days. After diagnosed of kidney injury, 13 out of 29 patients stopped ICIs, of which 6 had recovered kidney function and 7 had no improvement; 16 patients continued the ICIs treatment, of which 10 patients had recovered or improved kidney function and 6 had no improvement. The clinical characteristics of patients in the 2 groups were compared, and 10 variables including age, gender, baseline renal function, previous use of carboplatin, previous radiotherapy, combined chemotherapy containing cisplatin, combined paclitaxel chemotherapy, combined tyrosine kinase inhibitor (TKI) anti-vascular therapy, combined proton pump inhibitors, and combined radiotherapy were screened for the binary logistic regression analysis. The results showed that female ( OR=3.046, 95% CI: 1.149-8.077), ≤65 years ( OR=3.649, 95% CI: 1.435-9.274), combined TKI anti-vascular therapy ( OR=4.773, 95% CI: 1.496-15.227), and combined radiotherapy ( OR=8.655, 95% CI: 1.268-59.076) were independent risk factors for the development of kidney injury. Conclusions:The incidence of kidney injury in patients with eGFR <90 ml/(min·1.73 m 2) and/or Scr >105 μmol/L after using ICIs is 13.1%. In these patients, female, ≤65 years, combined TKI anti-vascular therapy, and combined radiotherapy may be risk factors for the development of ICI-associated kidney injury.
7.Interpretation on physical therapy management of children with developmental coordination disorder: an evidence-based clinical practice guideline from the Academy of Pediatric Physical Therapy of the American Physical Therapy Association in 2020
Zhen LYU ; Meihuan HUANG ; Beibei KANG ; Yanping FAN ; Peifu ZOU ; Jianguo CAO ; Zhimei JIANG ; Xiaoyan SHEN ; Qian ZHANG ; Jiaqin WANG
Chinese Journal of Applied Clinical Pediatrics 2021;36(22):1710-1715
Developmental coordination disorder (DCD) is a childhood-onset condition that primarily affects physical co-ordination.In China, DCD is not well recognized and is under-treated.Knowledge of the evaluation and intervention of DCD among physiotherapists (PT) is limited.In 2020, the Academy of Pediatric Physical Therapy of the American Physical Therapy Association published the Physical Therapy Management of Children with Developmental Coordination Disorder: An Evidence-Based Clinical Practice Guideline.From the perspective of PT, this review aims to make a comprehensive interpretation of the recommendations in the guideline regarding the physical examination and evaluation, physiotherapy planning and implementation, and family education of children at risk or diagnosed with DCD.This article aims to make DCD get more attention from domestic PT through the interpretation of the latest guidelines, and strengthen the knowledge of physiotherapy assessment and management in children with DCD to guide the clinical practice.
8.Relationship among undergraduate nursing students' attitudes towards the aged, family intimacy and sense of meaning in life
Kaixuan WANG ; Bohan LYU ; Xiaohan SHI ; Zhimei LIU
Chinese Journal of Modern Nursing 2021;27(16):2120-2126
Objective:To explore the correlation among undergraduate nursing students' attitudes towards the aged, family intimacy and sense of meaning in life, so as to provide a reference for improving undergraduate nursing students' attitudes towards the aged.Methods:This study was a cross-sectional study. Convenience sampling was used to select 385 undergraduate nursing students from 3 universities in Shandong Province as the research objects. The survey was conducted using the General Information Questionnaire, Kogan's Attitudes toward Older People Scale (KAOPS) , Family Intimacy Subscale and Meaning in Life Questionnaire (MLQ) . The correlation among undergraduate nursing students' attitudes towards the aged, family intimacy and sense of meaning in life was analyzed by Pearson correlation. The influencing factors of undergraduate nursing students' attitudes towards the aged were analyzed by multiple linear regression. In this study, a total of 385 questionnaires were distributed and 348 valid questionnaires were returned with an effective response rate of 90.39%.Results:Among those undergraduate nursing students, the KAOPS total score was (165.58±23.24) , and the Family Intimacy Subscale score was (70.16±9.75) , and the MLQ total score was (52.84±9.58) . The score of Family Intimacy Subscale, the total score and the dimension scores of MLQ were positively correlated with the KAOPS total score and dimension scores of undergraduate nursing students ( r=0.190-0.450; P<0.01) . The results of multiple linear regression analysis showed that gender, experience in geriatric nursing practice, willingness to engage in geriatric nursing work, relationship with the aged, family intimacy, and sense of meaning in life were the influencing factors of undergraduate nursing students' attitudes towards the aged ( P<0.05) , explaining 30.1% of the total variation. Conclusions:Undergraduate nursing students generally have a positive attitude towards the aged, but there is still room for improvement. In the future, the intervention research on family intimacy and sense of meaning in life of undergraduate nursing students should be strengthened, so as to guide undergraduate nursing students to have a more positive attitude towards the aged and improve the quality of geriatric nursing services.
9. Large-single scale mitochondrial DNA deletions in different tissues in Kearns-Sayre syndrome
Yuqing SHI ; Fang FANG ; Zhimei LIU ; Weihua ZHANG ; Jiuwei LI ; Guohong CHEN ; Junlan LYU ; Changhong DING ; Xiaotun REN
Chinese Journal of Applied Clinical Pediatrics 2019;34(20):1550-1554
Objective:
To investigate the clinical significance of different samples (the peripheral blood, urine and skeletal muscle) that could be detected the large-scale single deletions directly by using next-generation sequencing in the diagnosis of Kearns-Sayre syndrome (KSS) by concluding the clinical and genetic features of KSS, in order to explore a non-invasive method for diagnosis.
Methods:
The clinical data, skeletal muscle′s pathology and enzymology and genetic results of individuals with KSS, who were hospitalized from October 2016 to October 2017 in Department of Neurology, Beijing Children′s Hospital, Capital Medical University, were collected.The gene tests were performed by using next generation sequencing technology and long-PCR technology of mitochondrial DNA(mtDNA) and the whole exon in the peripheral blood, urine and skeletal muscle.
Results:
Four patients were all consistent with the diagnosis criteria of KSS, among whom the age of onset was 8.2 years old on average, and the initial symptoms were statue, ptosis, headache and vomiting, and visual impairment.The common symptoms of the 4 cases were ophthalmoplegia, exercise intolerance, development delay, loss of appetite, hypotonia, muscle weakness, with cerebrospinal fluid protein concentration over 1 000 mg/L, the cerebral magnetic resonance imaging showed that abnormal signals in the brainstem, in addition, white matter, thalamus, basal ganglia, cerebrum and cerebellum atrophy could be found.Moreover, 3 cases had cardiac conduction block.Two cases had maternal family history.Molecular analysis of the 4 cases revealed the large-scale single deletions of mtDNA from the peripheral blood, the urine, the skeletal muscle through the next-generation sequencing, which were m. 6460-15590(9 131 bp del), m.8482-13446(4 964 bp del), m.6831-14981(8 151 bp del), m.7983-15495(7 513 bp del), respectively.Among 3 cases who did pedigree analysis, only the mother of case 4 was detected with the same variation of the proband.
Conclusions
KSS is a rare mitochondrial disease, which could be detected with the single large scale mtDNA deletions in the peripheral blood, urine and skeletal muscle.With the development of the methodology, the diagnosis of KSS maybe no longer than depends on the muscle biopsy with the next-generation sequencing.And the possibility to get the positive results in the peripheral blood and urine by the non-invasive method could improve the molecular diagnosis of KSS.
10.Clinical analysis of 42 autoimmune epilepsy patients with autoantibody
Ruijuan LYU ; Xiaoqiu SHAO ; Tao CUI ; Maomao LIU ; Zhimei LI ; Weixiong SHI ; Chao CHEN ; Qun WANG
Chinese Journal of Neurology 2018;51(6):444-450
Objective To analyze the characteristics of clinical manifestation, brain magnetic resonance imaging ( MRI ) and 18 F-fluoro-deoxy-glucose positron emission tomography ( FDG-PET ) , inflammatory cerebrospinal fluid ( CSF ) , electroencephalography ( EEG ) , and associated tumour in autoimmune epilepsy ( AE) patients with different autoantibodies. Methods Forty-two patients diagnosed as AE with different autoantibodies in Beijing Tiantan Hospital, Capital Medical University between May 2014 and May 2017 were recruited. The clinical manifestation, brain MRI and PET, CSF findings, EEG and biochemical examination of these patients were analyzed. Results Specific autoimmune antibodies were detected in 42 patients, including anti-amphiphysin in one patient, anti-contactin-associated protein 2 in two, anti-γ-aminobutyric acid-B receptor in six, anti-leucine-rich glioma inactivated 1(LGI1) in 24, anti-N-methyl-D-aspartate receptor ( NMDAR ) in nine. The case series of 42 patients had an average age of (49. 9 ± 14. 5) years with a male to female ratio of 5:1. Except anti-NMDAR associated AE, most patients (21/33) presented with the symptoms of limbic encephalitis including temporal lobe seizures, memory decline, personality and neuropsychiatric changes, mesial temporal lobe abnormality in MRI or FDG-PET, and CSF inflammation. The seizure semiologic characteristics included frequent seizure, short seizure duration and common secondarily generalized tonic-clonic seizures during sleeping. Faciobrachial dystonic seizures and hyponatremia were the special clinical manifestation of AE with anti-LGI1. AE patients with all kinds of antibodies presented as initial resistance to anti-epilepsy drugs ( AEDs) and favorable outcome of immunosuppressive treatment in combination with AEDs. Conclusions AE patients with each type of antibody have the special clinical manifestation. Except anti-NMDAR associated AE, the seizure semiologic characteristics often present as frequent and short seizures. All AE patients present as drug refractory epilepsy initially. Seizures in AE patients can be well controlled by immunotherapy combined with AEDs.

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