Cornelia de Lange syndrome is a rare congenital malformation disease,and its typical features include growth restriction,mental retardation,craniofacial abnormality and hirsutism.This study reported 2 cases of CdLS patients,summarized their clinical manifestations and gene mutation characteristics,and the relevant literatures were reviewed.Patient 1,a 5-year-old girl,was admitted to the hospital due to growth retardation.Physical examination revealed hirsutism,monobrow,small and sparse teeth,hemangiomas(approximately 2 cm×2 cm)on the chest and back,delayed language development,and intellectual disability.The height was 98 cm[≤-2 standard deviation(SD)],the weight was 15 kg(-2SD--1SD),the head circumference was 46 cm(-3SD--2SD).Brain magnetic resonance imaging(MRI)plain scan showed slightly enlarged left lateral ventricle and bilateral lateral ventricle triangles,slightly thickened bilateral maxillary sinus and ethmoid sinus mucosa.Echocardiography revealed mild regurgitation of the mitral and tricuspid valves.Patient 2,a 1-month-old girl,was admitted to the hospital due to postpartum shortness of breath.The physical examination highlighted hirsutism,short nose,soft cleft palate,dysphagia,positive three-concave sign,audible throat sound,small hands,palm penetration in the left hand,short fifth finger of the right hand,limited right hip abduction,foot varus,and a white spot at the bottom of the right eye.Ultrasonography at 1 month showed mild regurgitation of the tricuspid valve and an open foramen ovale.Brain MRI at 2 d showed a few patchy low-signal shadows in the longitudinal fissure cistern and tentorium,a small amount of subarachnoid hemorrhage,and a small amount of fluid in the bilateral maxillary sinus,ethmoid sinus,and middle ear mastoid.No obvious structural or numerical abnormalities were observed in the chromosome karyotypes.Whole-exome sequencing detected a heterozygous variation of c.6653_6655del in the NIPBL gene in patient 1 and a heterozygous variation of c.337C＞T in the NIPBL gene in patient 2.These variations were not found in their parents.The study revealed that NIPBL gene variation could be the genetic cause of the two patients with CdLS.The identification of the variation c.337C＞T may expand the variation spectrum of the NIPBL gene,providing valuable insights into the pathogenic genetic basis of CdLS.

BACKGROUND:The assessment of asymmetric gait quality plays a pivotal role in guiding rehabilitation training;however,the link between gait quality and kinematic-kinetic gait parameters remains ambiguous. OBJECTIVE:To formulate a machine-learning model for evaluating gait quality based on gait parameters,identify factors sensitive to gait quality from asymmetric gait parameters,investigate the relationship between gait indicators and gait quality,and provide guidance for asymmetric gait training and rehabilitation. METHODS:An asymmetric gait database was established through the creation of asymmetric conditions.Kinematic and kinetic data were collected from 8 young and 8 elderly subjects(all male,right dominant population)during gait tests.Gait quality for each test data set was assessed using symmetry indices,resulting in the creation of a gait parameter-gait quality dataset.Utilizing the Random Forest algorithm,a gait quality evaluation model was developed and key quality parameter factors were identified through differential analysis.This model was iteratively refined.The model's performance was evaluated through 10-fold cross-validation,and its effectiveness was verified using the cross-validation dataset. RESULTS AND CONCLUSION:(1)A gradient test was designed to categorize gait quality into optimal,suboptimal,intermediate,and poor groups,with 759,329,133,and 125 instances,respectively.(2)The application of the Random Forest algorithm in gait quality assessment was explored.A relationship model was established between gait indicators and gait quality,yielding a predictive model accuracy of 95.99%.(3)The 13 main parameters significantly influencing asymmetric gait quality were identified through the Random Forest model's feature importance ranking.(4)An analysis of gait quality sensitivity factors using the 13 important parameters led to the identification of five key sensitivity indexes.The Random Forest model utilizing these sensitivity factors achieved a predictive accuracy of 94.20%.

Objective To observe the clinical efficacy and safety of external application of Piyan Formula in treating epidermal growth factor receptor tyrosine kinase inhibitor(EGFR-TKIs)-related rashes.Methods Sixty cases of EGFR-TKIs-related rash patients were randomly allocated into either a treatment group or a control group.The treatment group received external application of Piyan Formula to the rash area twice daily for 14 days.The control group received external application of fucidic acid cream to the rash area twice daily for 14 days.Changes in rash grading,itching grading,quality of life scores and adverse event were observed and recorded in both groups.At the same time,levels of hypersensitive C-reactive protein,interleukin(IL)-6,and IL-1β were measured before treatment and 24 hours after treatment.Results After treatment,the rash severity,itching severity,and quality of life scores were notably lower in the treatment group compared to the control group(P<0.05).The levels of hypersensitive C-reactive protein,IL-6,and IL-1β exhibited a significant decrease compared to their pre-treatment values.(P<0.05).Compared with the control group,the levels of hypersensitive C-reactive protein,IL-6,and IL-1β decreased in the treatment group,with statistically significant differences(P<0.05).No adverse events related to Piyan Formula or fucidic acid cream occurred during the treatment process.Conclusion External application of Piyan Formula in treating EGFR-TKIs-related rashes shows significant clinical efficacy,can effectively reduce the levels of inflammatory factors,and has high safety,thus warranting clinical promotion.

ObjectiveTo observe the effect of Dahuang Xiezhuo prescription on the clinical symptoms， blood uric acid， and renal tubular function of patients with immunoglobulin A （IgA） nephropathy in stages 1-2 of chronic kidney disease （CKD） complicated with hyperuricemia （HUA）. MethodSixty patients with IgA nephropathy in stages 1-2 of CKD complicated with HUA of spleen and kidney deficiency and combined turbidity and blood stasis syndromes were randomly divided into an observation group and a control group， with 30 cases in each group. The patients in the control group received basic treatment， i.e.， losartan potassium tablets 50-100 mg/time， once per day， and sodium bicarbonate tablets 0.5 g/time， three times per day by oral administration， combined with low-salt， low-fat， and low-purine diet. The patients in the observation group received Dahuang Xiezhuo prescription on the basis of basic treatment， one dose per day， twice a day in the morning and evening with warm water. Both groups were treated for two months. The total scores of traditional Chinese medicine（TCM）syndrome， blood pressure， 24 h urinary protein （24 h UTP）， blood urea nitrogen （BUN）， serum creatinine （SCr） ［glomerular filtration rate （eGFR） was calculated by CKD-epidemiology collaboration （CKD-EPI） formula］， serum uric acid （SUA）， and renal tubular function indexes ［urinary α₁-microglobulin （α₁-MG）， urinary β₂-microglobulin （β₂-MG）， urinary kidney injury molecule-1 （KIM-1）， and neutrophil gelatinase-associated lipocalin （NGAL）］ of the two groups before treatment and two months after treatment were recorded. The clinical efficacy of the two groups was evaluated two months after treatment. ResultAfter 2 months of treatment，the total effective rate in the observation group was 81.48%（22/27），higher than 50.00%（14/28） in the control group（χ² =6.661，P<0.05）. The total scores of TCM syndrome， 24 h UTP， and SUA in the observation group and the observation group were lower than those before treatment （P<0.05）， and compared with the control group after treatment， the observation group decreased more significantly （P<0.05）. After treatment， the blood pressure in the observation group and the observation group was lower than that before treatment （P<0.05）， and there was no significant difference in blood pressure between the two groups after treatment. After treatment， the levels of urinary α₁-MG， β₂-MG， KIM-1， and NGAL in the two groups were lower than those before treatment （P<0.05）， and the observation group was lower than the control group after treatment （P<0.05）. There were no significant inter-group and intra-group differences in BUN， SCr， and eGFR levels before and after treatment. There were no obvious abnormalities in blood routine， liver function， and electrolytes before and after treatment in the two groups， and no adverse reactions such as allergies occurred. ConclusionDahuang Xiezhuo prescription can effectively improve the clinical symptoms of IgA nephropathy with HUA （CKD1-2） patients with spleen and kidney deficiency and combined turbidity and blood stasis syndromes， reduce blood uric acid level， alleviate renal tubular injury， and protect the kidney. The curative effect is better than that of basic treatment.

Dental erosion is characterized by progressively destroyed teeth, which has no relation to bacteria but to chemicals. Some internal factors, such as gastroesophageal reflux induced by bulimia, anorexia, gastrointestinal diseases, or drugs, and external factors, such as diet, drugs, and occupational acid exposure, are considered promotive factors for this disease. This article presents a patient suffering from severe dental erosion in the whole dentition, especially in the maxillary teeth, due to gastroesophageal reflux induced by glucocorticoid therapy for optic neuritis. This article discusses the mechanism between optic neuritis glucocorticoid therapy and dental erosion.
Humans ; Glucocorticoids/therapeutic use* ; Tooth Erosion/therapy* ; Gastroesophageal Reflux/complications*

Zn²⁺ is required for the activity of many mitochondrial proteins, which regulate mitochondrial dynamics, apoptosis and mitophagy. However, it is not understood how the proper mitochondrial Zn²⁺ level is achieved to maintain mitochondrial homeostasis. Using Caenorhabditis elegans, we reveal here that a pair of mitochondrion-localized transporters controls the mitochondrial level of Zn²⁺. We demonstrate that SLC-30A9/ZnT9 is a mitochondrial Zn²⁺ exporter. Loss of SLC-30A9 leads to mitochondrial Zn²⁺ accumulation, which damages mitochondria, impairs animal development and shortens the life span. We further identify SLC-25A25/SCaMC-2 as an important regulator of mitochondrial Zn²⁺ import. Loss of SLC-25A25 suppresses the abnormal mitochondrial Zn²⁺ accumulation and defective mitochondrial structure and functions caused by loss of SLC-30A9. Moreover, we reveal that the endoplasmic reticulum contains the Zn²⁺ pool from which mitochondrial Zn²⁺ is imported. These findings establish the molecular basis for controlling the correct mitochondrial Zn²⁺ levels for normal mitochondrial structure and functions.
Animals ; Caenorhabditis elegans/metabolism* ; Cation Transport Proteins/genetics* ; Homeostasis ; Mitochondria/metabolism* ; Zinc/metabolism*

Traditional Chinese Medicine (TCM) has certain advantages in the treatment of precancerous lesions of gastric cancer (PLGC) based on the holistic concept and the thought of syndrome differentiation. Currently, it is generally divided into 6 kinds of syndromes: liver and stomach qi stagnation syndrome, liver and stomach heat stagnation syndrome, spleen and stomach weakness syndrome (including spleen and stomach qi deficiency syndrome with coldness), spleen and stomach damp heat syndrome, stomach yin deficiency syndrome and blood stasis in stomach collateral syndrome. Clinically, the doctor should treat PLGC patients according to different syndrome types by using Chinese medicine prescription, which could improve the gastric mucosal pathological state, gastroscopy and clinical symptoms, to rehibit the development of precancerous lesions, reduce the incidence rate of gastric cancer. In the future, the doctors shouldreach the consensus of treating PLGC with TCM diagnosis, and focus on the research of TCM compounds or monomers with obvious curative effect, increase the times of follow-up, and evaluate the long-term curative effect.

To analyze the clinical characteristic and diagnosis of patients with acute middle cerebellar peduncles lesions，explore etiology and related mechanism，and improve the cognition of related diseases involving the middle cerebellar peduncles.Methods82 inpatients with middle cerebellar peduncles high signal on DWI in our hospital were analyzed retrospectively from January 2010 to December 2020.The clinical characteristic and diagnosis were summarized，and the etiology and related mechanism were further discussed.Results①All the patients had acute onset，with dizziness/vertigo as the main symptom and ataxia as the main physical sign，accompanied by limb weakness or numbness，arrhythmia，walking instability，etc.②68 cases（82.9%）had unilateral middle cerebellar peduncles lesions，14 cases（17.1%）had bilateral middle cerebellar peduncles lesions，③72 cases（87.8%）were diagnosed with acute cerebral infarction；7 cases（8.5%）were diagnosed with Wallerian degeneration；1 case（1.2%）had high probability of diagnosis of immune-related demyelinating disease of central nervous system；1 case（1.2%）had high probability of diagnosis of primary lymphoma of the central nervous system and 1 case（1.2%）was diagnosed MOG antibody disease. ④Among 72 patients with acute cerebral infarction，20 cases（27.8%）were isolated unilateral middle cerebellar peduncles infarction，11 cases（55.0%）were aortic large large-artery atherosclerosis，5 cases（25.0%）were smallartery occlusion，and 4 cases（20.0%）were undetermined etiology. 45 patients（62.5%）had unilateral middle cerebellar peduncles accompanied by infarctions in other sites，of which 33 cases（73.3%）were largeartery atherosclerosis，4 cases（8.9%）were Cardioembolism，and 9 cases（20.0%）were undetermined etiology. The etiology of 2 cases of isolated bilateral middle cerebellar peduncles infarction and 5 cases of bilateral middle cerebellar peduncles combined by infarction in other sites is large-artery atherosclerosis. Conclusion（1）The most common clinical symptom of acute middle cerebellar peduncles lesions is dizziness/vertigo，and the most common etiology is cerebral infarction.（2）Middle cerebellar peduncles infarction is often combined by infarction in other parts，isolated middle cerebellar peduncles infarction and bilateral middle cerebellar peduncles infarction are relatively rare，and the main etiological is large-artery atherosclerosis.（3）Involvement of the middle cerebellar peduncles may also occur with Wallerian degeneration，immune-related demyelinating disease of central nervous system，MOG antibody disease，and central nervous lymphoma may also be involved.

Objective:To understand the components, performance, acceptance test and quality assurance (QA) protocols of the new Varian Halcyon accelerator through the procedures of installation product acceptance (IPA).Methods:Per Varian IPA protocol, TG-142 for LINAC and TG-148 for tomotherapy QA protocols, the software license, safety interlock, mechanical accuracy, dosimetric performance and imager system were checked thoroughly. Some parameters were benchmarked to the conventional TrueBeam system.Results:The system has been fully licensed. Safety interlock was normal. Mechanical accuracy: The maximum deviation of beam stability per gantry rotation was 1.13%. The size of isocenter was>0.59mm. The offsets of MV imager, collimation rotation and absolute gantry rotation were 0.09mm, -0.21° and 0.11°, respectively. The maximum offsets of couch, virtual-to-isocenter were 0.15mm (vertical) and -0.04mm (vertical), respectively. Beam performance: The depth deviation of maximum dose was 0.1cm. The offset of percentage depth dose at 10cm was 0.5%. The maximum deviations of off-axis-intensity, symmetry, and repeatability were 0.9%, 0.94% and -0.44%, respectively. MV imager: The dark field mean pixel value, noise, corrected pixels, defective lines, sensitivity and linearity disparity of dose were 614, 4.4, 3626, 0, 19177, and 0.47%, respectively. All values were within the range of tolerance. Visual check of contrast resolution and small object detection was all satisfactory.Conclusions:Without Halcyon-specific TG report or guidelines, manufacture-provided IPA manual can be helpful with the installation of acceptance and QA protocols. IPA has been successfully performed for Halcyon at Peking University Cancer Hospital. The automated workflow improves the clinical efficiency by simplifying the operations.

Objective:To explore the investigation level of individual monitoring for medical radiation workers.Methods:Monitoring and analysis of individual doses to the medical radiation workers in Guangdong province were performed, from 2016 to 2019, by the Individual Dose Monitoring Department of Guangdong Provincial Hospital for Occupational Disease Prevention and Control.Results:The numbers of monitored workers were diagnostic radiology 53 674, dental radiology 2 563, nuclear medicine 5 001, radiotherapy 16 687, interventional radiology 22 272 and others 2 087 from 2016 to 2019, of which the number of individuals with doses in excess of investigation level 1.25 mSv, were 76, 6, 18, 28, 133 and 2 respectively. The non-real doses made up 67.1 %, 100 %, 55.6 %, 82.1 %, 76.7 % and 100 % of their respective totals. Their 99th percentile doses P99 were 0.37, 0.39, 0.67, 0.35, 0.54 and 0.30 mSv, and the average periodic dose equivalent were 0.07, 0.06, 0.11, 0.06, 0.07 and 0.05 mSv respectively, indicating a statistically significant difference existing in the average annual effective dose between groups ( Z=-26.139--2.681, P<0.001). Conclusions:Due to non-reality of doses in excess of investigation levels and high labor cost, it is suggested to currently use 0.40 mSv per 3 months as investigation level for diagnostic radiology, dental radiology, radiotherapy and others, and 0.70 mSv per 3 months as for nuclear medicine and interventional radiology.