Objective:To evaluate the feasibility of using an automatic iodine detector to detect urinary iodine.Methods:Using an automatic iodine detector to determine urinary iodine, within the range of the 50 - 1 000 μg/L standard curve, methodological evaluations on the linear relationship of the standard curve, precision, and accuracy (determination of urinary iodine standard substances GBW09108x, GBW09110c, GBW09111b, GBW09112b, and spiked recovery experiments) were conducted. Method comparison experiments with the arsenic cerium catalytic spectrophotometry recommended by the National Reference Laboratory for Iodine Deficiency Disorders (NRL) was conducted.Results:The method has a good linear relationship within the range of 50 - 1 000 μg/L standard curve, │ r│ > 0.999 0. The coefficient variations for measuring iodine levels in urine samples with low, medium, and high iodine concentrations were 2.4%, 0.8%, and 1.1%, respectively. The recovery rates of urine samples with low, medium, and high iodine concentrations ranged from 93.0% to 104.1%, with a total average recovery rate of 98.9%. The determination results of standard substances GBW09108x, GBW09110c, GBW09111b, and GBW09112b were all within the given standard value ± uncertainty range [(80.8 ± 9.0), (227.0 ± 15.0), (525.0 ± 17.0), (794.0 ± 28.0) μg/L]. There was no statistically significant difference between the results obtained by using the iodine automatic detector and the NRL recommended standard method ( t = - 1.94, P = 0.062). Conclusions:The iodine automatic detector has a high degree of automation, strong environmental adaptability, and excellent detection efficiency in determining urinary iodine. The experimental results of methodological characteristics are good and can be used for the detection of urinary iodine samples.

Background and purpose:Human epidermal growth factor receptor 2(HER2)is closely associated with drug efficacy and prognosis in urothelial carcinoma(UC).HER2 is a significant biomarker and therapeutic target in various tumors.In recent years,anti-HER2 antibody-drug conjugates have shown significant clinical efficacy in UC patients with HER2 overexpression.Therefore,an in-depth understanding of HER2 expression and its characteristics in Chinese UC patients is crucial to guide treatment decision-making,optimize treatment strategies and achieve personalized therapy.This study aimed to thoroughly investigate correlation of HER2 expression and clinicopathological characteristics in Chinese patients with UC.Methods:This study was a multicenter study that retrospectively included UC patients from urology departments of 8 tertiary hospitals in 5 geographical regions of China(North China,East China,South China,Central China and Northwest)whose tissue samples were collected from January 2023 to March 2024.Inclusion criteria:① age above 18 years;② UC diagnosed by histopathological or cytological examination;③ complete results of HER2 expression detection using immunohistochemistry(IHC)in the primary tumor site were required.Exclusion criteria:① diagnosed patients with tumors in other parts of the body;② physicians evaluated other situations that were not suitable for inclusion in this study.IHC results for HER2 expression and clinicopathological data were collected.HER2 expression was determined according to the criteria outlined in"Clinical pathological expert consensus on HER2 testing in urothelial carcinoma in China",with HER2 2+and 3+defined as HER2 overexpression.The HER2 expression and clinicopathological features were analyzed.This study was approved by the medical ethics committee of Fudan University Shanghai Cancer Center(ethical number:2301268-12)and was registered at China Clinical Trial Registry(registration number:ChiCTR2300069746).Results:A total of 1054 patients with UC were included.Most of the tumors were bladder UC(n=807,76.6%).The mean age of patients was(66.8±10.5)years,and the majority were male(78.5%).The HER2 overexpression rate was 58.4%(n=616),with an additional 23%of patients having HER2 1+expression(n=242),and a small proportion exhibiting negative HER2 expression(n=196,18.6%).HER2 expression was significantly associated with various clinical and pathological characteristics such as Eastern Cooperative Oncology Group(ECOG)performance status,history of cardiovascular disease,history of metabolic disorders,smoking,UC disease location,differentiation grade,pathological type,and tumor stage.Conclusion:Retrospective analysis of multi-center data shows that HER2 expression is frequently observed in Chinese UC patients,with an overexpression rate of up to 58.4%.Furthermore,HER2 expression is closely associated with various clinical and pathological features of UC patients.This study underscores the critical importance of accurately assessing HER2 expression in UC patient to guide personalized therapies.

Objective:To analyze the clinical diagnosis,treatment,and prognosis of the patients with pyridoxine-dependent epilepsy(PDE)characterized by infantile epileptic spasm syndrome(IESS).Methods:A total of 75 PDE patients with ALDH7A1 variants were diagnosed at the Department of Pediat-rics of Peking University First Hospital and Peking University People's Hospital from July 2012 to June 2024,and five PDE patients with the phenotype of IESS were selected.The clinical manifestations,treat-ment,blood biochemistry,metabolic screening,electroencephalogram(EEG),brain magnetic resonance imaging(MRI),and gene testing results of the five PDE patients were analyzed.Results:Among the five patients diagnosed with PDE,three were female and two were male,and the phenotype was consistent with IESS.The age at the last follow-up was from one year and 3 months to 11 years and 9 months.All the five cases were delivered at term.Two cases had anoxia and asphyxia at birth,and three cases had normal birth history.The onset age of seizure ranged from one day to 4 months after birth.One case presented with epileptic spasms(ES),and three cases presented with focal seizure and ES.The other patient was started with ES,followed by multiple seizure types,including focal seizure and generalized tonic-clonic seizure,and developed epileptic status which caused secondary brain injury.The interictal EEG results showed hypsarrhythmia in three cases,generalized and multifocal discharges in one cases,and multifocal discharges in one case.No abnormalities were found in brain MRI in three cases,and secondary cerebral atrophy and hydrocephalus were observed in two cases during the course of the disease.Gene analysis confirmed that the five patients carried compound heterozygous variants of ALDH7A1,and two of them carried exon deletion variants.High dose pyridoxine treatment started at the end of 2 days,4 years,3 years,4 days.and 2 months after the onset of the disease.Up to the last follow-up,seizures of four cases were controlled,followed by normal EEG.One patient with brain atrophy had uncontrolled seizures and EEG remained abnormal.The neurodevelopment of the three patients were se-verely delayed,and two were mildly delayed.Conclusion:IESS could be a rare phenotype of PDE.High doses of pyridoxine can control or reduce the frequency of seizures.Delayed diagnosis and treatment,secondary brain injury,and the genotype,especially deletions variants,were associated with poor prognosis.

Objective:To summarize the electroclinical characteristics of patients with epilepsy with myoclonic absence（EMA）and analyze the relationship with prognosis.Methods:Clinical data of 25 patients with EMA monitored at the pediatric EEG monitoring centers of Peking University People's Hospital and Peking University First Hospital between January 2012 and December 2022 were retrospectively analyzed and divided into three groups according to development before and after the onset of the disease to analyze the electroclinical characteristics and the relationship with prognosis.Results:There were 14 males and 11 females in 25 cases，and the median age of epilepy onset was 48（26，74）months.Sixteen cases in the group with normal development before and after the onset of epilepsy（group A），5 cases in the group with normal development before the onset of epilepsy but retarded development after the onset of epilepsy（group B），and 4 cases in the group with retarded development before and after the onset of epilepsy（group C）.The median age at onset was 62（36，82）months，34（21，66）months，and 26（20，32）months in the three groups，with 3，3，and 4 cases of early onset in each group，respectively.The EEG background activity slowed down in 10 cases，with 6，1 and 3 cases in the three groups，respectively.Interictal EEG was normal in 1 and abnormal in 24 cases，which showed generalized discharges，of which 11 cases showed coexisting focal discharges and generalized discharges.Among the focal discharges，there were cases in all three groups，involving the anterior-posterior，temporal and Rolandic regions.Fifteen cases had myoclonic absence（MA）induced by hyperventilation，with 10 cases in group A，4 cases in group B and 1 case in group C.The most prevalent concomitant seizure was myoclonic seizure（MS），with 9，3 and 2 cases in each group respectively.Statistically significant differences were seen in early onset and refractory EMA among the three groups（both P<0.05）.In further two by two comparisons，the proportion of early onset and drug refractory cases was greater in children in group C than in group A，with statistically significant differences（both P<0.017），and the difference in concomitant MS among the three groups was not statistically significant（ P>0.05）. Conclusions:The MA seizures in children with EMA are sensitive to hyperventilation.The common accompanying seizure is MS.Some children with EMA present with early onset and refractory epilepsy，with a tendency towards developmental epileptic encephalopathy.

Objective:To investigate the clinical and electroencephalogram (EEG) characteristics of pattern-sensitive epilepsy (PSE).Methods:This retrospective case summary study enrolled 4 pediatric patients with PSE treated at the Peking University People′s Hospital from January 2015 to September 2023.The clinical data, EEG findings, treatments, and prognosis were retrospectively analyzed.Results:Among the 4 patients, 3 were female, and 2 had developmental delays before the onset of the disease.Spontaneous seizures occurred in 3 cases, including spasticity and tonic seizures in case 1, atypical absence seizures, myoclonic seizures, and general tonic-clonic seizures in case 3, and eyelid myoclonic seizures in case 4.All 4 cases exhibited pattern-induced reflex seizures, and pattern-induced seizures with photosensitivity were monitored by EEG in 3 cases.Of the 3 cases, 1 had myoclonic seizures, 1 had eyelid myoclonic seizures, and 1 had both myoclonic seizures and focal to bilateral tonic-clonic seizures.Two out of the 4 patients were diagnosed with epilepsy syndromes: Lennox-Gastaut syndrome and epilepsy with eyelid myoclonia.All 4 patients had interictal discharges, including 2 cases of generalized discharges, 1 case of multifocal discharges combined with generalized discharges, and 1 case of anterior head discharges.Three cases underwent the detection of whole exon gene and copy number variation, and 1 case showed a novel heterozygous mutation c. 73T>C(p.W25R) in the MBD5 gene on chromosome 2.Three patients were treated with antiseizure medication (ASM), while 1 did not receive ASM treatment because the seizures were all induced.However, none of the 4 had seizures under control after 5 to 10 years of follow-up. Conclusions:PSE is more common in female children and may co-occur with developmental delays and intellectual disabilities.In PSE children, the EEG shows mostly generalized discharges, spontaneous seizures, induced seizures, and predominantly generalized seizures coexist.Reflex seizures in PSE patients are more difficult to control with ASM treatment.

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder.Primarily involving the skin and central nervous system, it also impacts the heart, lungs, kidneys, and other organs.The vast majority of TSC patients may experience neuropsychiatric symptoms during their lifetime, including behavioral, mental, intellectual, academic, neuropsychological, and psychosocial disorders, which are collectively referred to as TSC-associated neuropsychiatric disorders(TAND).The TAND Checklist is a screening tool designed to identify potential neuropsychiatric disorders by facilitating dialogues between TSC patients, their families, and clinicians.This article focuses on the concept and research history of TAND and the application of the TAND Checklist, contributing to the comprehensive and systematic clinical evaluation and understanding of the prognosis of children with TAND.

Background: Data on the efficacy and incidence of adverse effects associated with dexmedetomidine (DEX) as a local anesthetic adjuvant for patient-controlled epidural analgesia (PCEA) are inconclusive. This meta-analysis assessed the efficacy and risks of DEX for PCEA using opioids as a reference. Methods: Two researchers independently searched PubMed, Embase, Cochrane Library, and China Biology Medicine for randomized controlled trials comparing DEX and opioids as local anesthetic adjuvants in PCEA. Results: In total, 636 patients from seven studies were included in this meta-analysis. Postoperative patients who received DEX had lower visual analog scale (VAS) scores than those who received opioids at 4–8 h (mean difference [MD]: 0.61, 95% CI [0.45, 0.76], P < 0.001, I2 = 0%), 12 h (MD: 0.85, 95% CI [0.61, 1.09], P < 0.001, I2 = 0%), 24 h (MD: 0.59, 95% CI [0.06, 1.12], P = 0.030, I2 = 82%), and 48 h (MD: 0.54, 95% CI [0.05, 1.02], P = 0.030, I2 = 91%). Additionally, patients who received DEX had a lower incidence of itching (odds ratio [OR]: 2.86, 95% CI [1.18, 6.95], P = 0.020, I2 = 0%) and nausea and vomiting (OR: 6.83, 95% CI [3.63, 12.84], P < 0.001, I2 = 24%). In labor analgesia, no significant differences in neonatal (pH and PaO2 of cord blood, fetal heart rate) or maternal outcomes (duration of labor stage, mode of delivery) were found between the DEX and opioid groups. Conclusions Compared with opioids, using DEX as a local anesthetic adjuvant in PCEA improved postoperative analgesia and reduced the incidence of itching and nausea and vomiting without increasing the incidence of adverse events.

Objective:To investigate the clinical and electroencephalographic characteristics of photosensitive occipital lobe epilepsy (POLE) in children.Methods:The clinical data, electroencephalogram (EEG), treatment and prognosis of 22 children with POLE in the Department of Pediatrics, Peking University First Hospital from January 2006 to December 2019 were retrospectively analyzed.Results:Among the 22 patients, 12 cases were female and 10 cases were male.There were 3 cases combined with mild mental retardation.Classified by seizure symptoms, only 3 patients complained of subjective symptoms of visual aura, and the common symptoms were eye movement in 11 patients, headache in 3 patients, vomiting in 6 patients and dizziness in 3 patients.All patients had focal seizures during the course of disease.Twenty patients had secondary bilateral tonic-clonic seizures, and 5 patients also had generalized myoclonic seizures.Interictal epileptiform discharges were monitored in EEG of all children, including pure focal discharges in 6 patients, pure generalized discharges in 10 patients, and coexistence of generalized and focal discharges in 6 patients.Photoparoxysmal responses were induced in 19 patients, including pure focal discharges in 4 patients, pure generalized discharges in 6 patients, and coexisting focal and generalized discharges in 9 patients.Photoconvulsive responses were induced in 16 patients, including focal seizures with occipital lobe onset or focal secondary to bilateral tonic-clonic seizures in 15 patients, and myoclonic seizures in 1 patient.Eighteen patients were treated with anti-seizure medications (ASMs) and followed up.The top 3 commonly used drugs were Valproic acid (12 patients), Levetiracetam (8 patients), and Lamotrigine (4 patients), and 13 cases had controlled seizures.Conclusions:The visual aura of POLE is not obvious, and the relationship between epilepticseizures and light stimuli in daily life should be actively inquired to avoid misdiagnosis or underdiagnosis of the syndrome.The EEG of POLE often visualizes the coexistence of focal and generalized discharges, which may be accompanied by generalized seizures.The coexistence phenomenon should be considered when ASMs are medicated during treatment, and odium channel blockers should be selected carefully.

Idiopathic pulmonary fibrosis (IPF) is a chronic progressive lung disease characterized by progressive lung fibrogenesis and histological features of usual interstitial pneumonia. IPF has a poor prognosis and presents a spectrum of disease courses ranging from slow evolving disease to rapid deterioration; thus, a differential diagnosis remains challenging. Several biomarkers have been identified to achieve a differential diagnosis; however, comprehensive reviews are lacking. This review summarizes over 100 biomarkers which can be divided into six categories according to their functions: differentially expressed biomarkers in the IPF compared to healthy controls; biomarkers distinguishing IPF from other types of interstitial lung disease; biomarkers differentiating acute exacerbation of IPF from stable disease; biomarkers predicting disease progression; biomarkers related to disease severity; and biomarkers related to treatment. Specimen used for the diagnosis of IPF included serum, bronchoalveolar lavage fluid, lung tissue, and sputum. IPF-specific biomarkers are of great clinical value for the differential diagnosis of IPF. Currently, the physiological measurements used to evaluate the occurrence of acute exacerbation, disease progression, and disease severity have limitations. Combining physiological measurements with biomarkers may increase the accuracy and sensitivity of diagnosis and disease evaluation of IPF. Most biomarkers described in this review are not routinely used in clinical practice. Future large-scale multicenter studies are required to design and validate suitable biomarker panels that have diagnostic utility for IPF.
Humans ; Idiopathic Pulmonary Fibrosis/diagnosis* ; Biomarkers ; Lung Diseases, Interstitial ; Lung ; Bronchoalveolar Lavage Fluid ; Disease Progression ; Prognosis

Objective:To analyze the difference of clinical characteristics and outcomes of infants with moderate and severe pediatric acute respiratory distress syndrome(PARDS)diagnosed according to baseline oxygenation index(OI) in pediatric intensive care unit(PICU).Methods:Second analysis of the data collected from the "Efficacy of pulmonary surfactant (PS) in the treatment of children with moderate and severe ARDS" program.Retrospectively compare of the differences in clinical data such as general condition, underlying diseases, OI, mechanical ventilation, PS administration and outcomes among infants with moderate and severe PARDS divided by baseline OI who admitted to PICUs at 14 participating tertiary hospitals from 2016 to December 2021.Results:Among the 101 cases, 55 cases (54.5%) were moderate and 46 cases (45.5%) were severe PARDS.The proportion of male in the severe group (50.0% vs.72.7%, P=0.019) and the pediatric critical illness score(PCIS)[72 (68, 78) vs.76 (70, 80), P=0.019] were significantly lower than those in the moderate group, while there was no significant difference regarding age, body weight, etiology of PARDS and underlying diseases.The utilization rate of high-frequency ventilator in the severe group was significantly higher than that in the moderate group (34.8% vs.10.9%, P=0.004), but there was no significant difference in PS use, fluid load and pulmonary complications.The 24 h OI improvement (0.26±0.33 vs.0.04±0.34, P=0.001) and the 72 h OI improvement[0.34 (-0.04, 0.62) vs.0.15 (-0.14, 0.42), P=0.029)]in the severe group were significantly better than those in the moderate group, but there was no significant difference regarding mortality, length of hospital stay and intubation duration after diagnosis of PARDS between the two groups. Conclusion:In moderate and severe(divided by baseline OI) PARDS infants with invasive mechanical ventilation, children in severe group have better oxygenation improvement in the early stage after PARDS identified and are more likely to receive high frequency ventilation compared to those in moderate group.Baseline OI can not sensitively distinguish the outcomes and is not an ideal index for PARDS grading of this kind of patient.