¿Qué puede esconder el retraso global del desarrollo? A propósito de un caso de causa genética / What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause

Se presenta un niño de 6 años con antecedente de retraso del lenguaje que llevó a sus padres a realizar múltiples consultas. En un primer momento, su cuadro fue interpretado como parte de un retraso global del desarrollo. Posteriormente, el paciente presentó convulsiones y episodios de descompensación metabólica, comenzando desde entonces su seguimiento por los Servicios de neurología, genética y metabolismo. Finalmente, tras varios estudios complementarios, por medio de un exoma trío se arribó al diagnóstico de síndrome de microduplicación del cromosoma 7q11.23, lo que justifica tanto el retraso global de desarrollo del paciente como su clínica neurológica. (AU)

A six-year-old boy presents with a history of language delay that led his parents to make multiple consultations. At first, we interpreted his condition as part of a global developmental delay. Subsequently, the patient presented seizures and episodes of metabolic decompensation, and since then, he had to be followed up by neurology, genetics, and metabolism services. Finally, after several complementary studies, following a trio exome analysis, we diagnosed chromosome 7q11.23 microduplication syndrome, which explains his global developmental delay and neurological symptoms. (AU)

Determinants of patients’ delay with disability in the diagnosed leprosy cases in the three major states of India: A case-control study

Background: Skin lesions are the most common early symptoms of leprosy, often ignored by patients at an early stage and misdiagnosed as other dermatological diseases by healthcare personnel, leading to delay in diagnosis and treatment of leprosy precipitating permanent neurological deficit, deformities and serious disabilities. Aims: The objective is to evaluate the duration of delay and factors responsible for the delay in reporting of patients, among the newly detected leprosy cases (Grade 1 and Grade 2 disability patients). Methods: A case-control study was conducted during 2014–2016 in three major states of India (Delhi, Gujarat and West Bengal) in 140 randomly recruited newly registered adult leprosy patients (aged 18 years and above) with Grade 2/1 disabilities (cases) and 140 Grade 0 disability patients (controls) in each of these Indian states. Results: It is established that the major contributors for the delay in the early diagnosis of leprosy have been patient-related factors. The median patient delay in the three states of Delhi, Gujarat and West Bengal were five months (0.7–1.8), 2.8 months (2–14) and 12 months (2–24), respectively. Limitations: The study design is case-control and has an inbuilt reporting bias due to the retrospective nature of data collection but the data collection was carried with caution to reduce the recall bias. As the study is carried out in three states, generalisation of interpretation was cautiously executed. The matching ratio of cases and controls was 1:1 in this study, but we could not increase the controls due to operational feasibility during the conduct of the study. Conclusion: Patient delay is a crucial factor responsible for the disability among new leprosy cases. A higher patient delay in these three states reflects that the community is not aware about the signs and symptoms of leprosy. Reducing patient delay is very important for reducing disabilities in the newly diagnosed cases.

A-case-report-of-zellweger-syndrome-with-global-deveopmental-delay

Peroxisome biogenesis disorder are related to spectrum of genetic diseases that range from severe Zellweger syndrome to milder infantile Refsum disease. Zellweger syndrome is characterized by dysmorphic features, severe hypotonia, seizures, failure to thrive, liver dysfunction and skeletal defects. We report a case of Zellweger syndrome, confirmed by clinical, biochemical and molecular findings, diagnosed in context of dysmorphism, and seizures.

Evolução do atraso diagnóstico na doença inflamatória intestinal em idade pediátrica e o impacto da pandemia COVID-19 / Evolution of diagnostic delay in pediatric inflammatory bowel disease and the impact of the covid-19 pandemic

ABSTRACT Background: Pediatric inflammatory bowel disease (IBD) is increasingly prevalent, but diagnosis can still be challenging. Diagnostic delay is particularly deleterious in this age group. Objective This study explores the evolution of diagnostic delay in pediatric IBD and the influence of the COVID-19 pandemic. Methods Retrospective study including all pediatric IBD patients diagnosed during 2014, 2019 and 2020 in a tertiary hospital. Diagnostic delay, time to first medical visit, time to pediatric gastroenterologist (PG) visit and time to diagnosis were calculated and compared within a gap of five years (2019 and 2014) and with the year of onset of the pandemic (2020 and 2019). Results A total of 93 participants were included (2014: 32, 2019: 30, 2020: 31). No significant differences were observed in diagnostic delay, time to first medical visit in Crohn's disease (CD), time to PG visit and time to diagnosis when comparing 2019-2014 and 2020-2019. Time to first visit in ulcerative colitis (UC) and Undetermined-IBD increased in 2019 (P=0.03), with new decrease in 2020 (P=0.04). Diagnostic delay was longer in DC compared to UC plus Undetermined-IBD. Conclusion Diagnostic delay is still an important matter in pediatric IBD, with no significant change over the last years. The time to the first PG visit and the time for diagnosis seem to have the greatest impact on diagnostic delay. Thus, strategies to enhance recognition of IBD symptoms among first-line physicians and to improve communication, facilitating referral, are of utmost importance. Despite the restraints in the health care system caused by the pandemic, time to diagnosis in pediatric IBD was not impaired during 2020 in our center.

RESUMO Contexto Apesar da prevalência crescente da doença inflamatória intestinal (DII) em idade pediátrica, o seu diagnóstico pode ser desafiante. Um atraso no diagnóstico é particularmente deletério nesta faixa etária. Objetivo Este estudo investiga a evolução do atraso diagnóstico na DII pediátrica e o impacto da pandemia COVID-19 no mesmo. Métodos Estudo retrospetivo que incluiu todos os doentes em idade pediátrica diagnosticados com DII durante 2014, 2019 e 2020 num hospital terciário. O atraso diagnóstico, o tempo para a primeira visita médica, o tempo para a primeira visita ao gastroenterologista pediátrico (GP) e o tempo para o diagnóstico foram calculados e comparados num intervalo de cinco anos (2019 e 2014) e com o ano marcado pelo surgimento da pandemia COVID-19 (2020 e 2019). Resultados Foram incluídos 93 participantes (2014: 32, 2019: 30, 2020: 31). Não se observou diferença significativa no atraso diagnóstico, no tempo para a primeira visita médica na doença de Crohn (DC), no tempo para a primeira visita ao GP e no tempo para o diagnóstico após comparação entre 2019-2014 e 2020-2019. Na colite ulcerosa e colite indeterminada, o tempo para a primeira visita médica aumentou em 2019 (P=0,03), com nova diminuição em 2020 (P=0,04). O atraso diagnóstico foi superior na DC comparativamente com a colite ulcerosa e colite indeterminada. Conclusão O atraso diagnóstico na DII pediátrica continua a ser um tema importante, que não sofreu alteração significativa ao longo dos últimos anos. O tempo para a primeira visita ao GP e o tempo para o diagnóstico parecem ter maior impacto no atraso diagnóstico, pelo que são necessárias estratégias para aumentar o reconhecimento dos sintomas da DII entre os médicos de primeira linha, bem como melhorar a comunicação e a referenciação. Apesar das restrições causadas pela pandemia no sistema de saúde, o tempo para o diagnóstico na DII pediátrica não foi comprometido no nosso centro em 2020.

Renal-limited systemic lupus erythematosus: Avoiding delay in diagnosis

Nephrotic syndrome (NS) and glomerulonephritis (GN) are disorders of varied etiologies. Systemic lupus erythematosus (SLE) is one of the multisystemic diseases causing NS and GN. SLE is often suspected whenever NS/GN is associated with extrarenal manifestations. However, it presents solely as NS or GN without extrarenal features in a handful of cases. This affects the prognosis adversely as negligent delay in diagnosis of SLE and initiation of immunosuppressive therapy is associated with poorer response. We present a series of five women who presented solely with renal manifestations. The diagnosis of SLE was delayed, as the women did not have any extrarenal features. We started immunosuppressive therapy after a diagnosis of lupus nephritis was made in retrospect after a kidney biopsy. This case series highlights the importance of performing serology tests for SLE in all young female patients who present with NS/GN to avoid delay in diagnosis.

Epidemiological characteristics of pulmonary tuberculosis among the elderly population at ages of 65 years and older in Yangzhou City / 预防医学

Objective@#To investigate the epidemiological characteristics of pulmonary tuberculosis (PTB) among the elderly at ages of 65 years and older in Yangzhou City, Jiangsu Province from 2017 to 2021, so as to provide the evidence for the development of PTB prevention and control measures in the elderly. @*Methods@#Data of PTB cases at ages of 65 years and older in Yangzhou City from 2017 to 2021 were collected from the Tuberculosis Management Information System of the Chinese Disease Control and Prevention Information System, including age, gender, current address, population classification and diagnosis classification. Descriptive epidemiological methods were used to analyze the temporal distribution, regional distribution, population distribution and delay in healthcare-seeking of PTB cases.@*Results@#A total of 3 283 PTB patients at ages of 65 years and older were registered in Yangzhou City from 2017 to 2021, accounting for 41.12% of the total number of PTB cases. The incidence decreased from 112.10/105 to 66.03/105 (P<0.05), with an average annual incidence of 80.43/105. There were 1 236 cases of PTB cases from April to July, accounting for 37.65%. Guangling District had the highest annual incidence of 96.45/105, followed by Hanjiang District (89.29/105) and Jiangdu district (87.05/105). The average annual incidence of PTB in males was 134.07/105, which was higher than that in females (30.55/105, P<0.05). There were 1 070 cases of PTB cases at ages of 65-69 years, accounting for 32.59%. The highest incidence was seen in men at ages of 85 years and older (200.39/105) and in women at ages of 80-84 years (38.34/105). Farmers were the predominant occupation of PTB cases (2 488 cases, 75.78%). There were 2 365 cases of PTB with delay in healthcare-seeking, accounting for 72.04%.@* Conclusions @#The incidence of PTB in the elderly at ages of 65 years and older in Yangzhou City showed an overall downward trend from 2017 to 2021, peaked from April to July, and was higher in Guangling District, Hanjiang District and Jiangdu District. Males and farmers had higher risks of PTB.

Delayed medical visit among tuberculosis patients and risk factors in Huaibei City， Anhui Province from 2017 to 2021 / 上海预防医学

ObjectiveTo understand the situation about time interval between the onset and medical visit among tuberculosis patients in Huaibei City， Anhui Province from 2017 to 2021， and to determine the delayed medical visit and its risk factors， as to provide evidence for tuberculosis prevention and control. MethodsCase information of confirmed tuberculosis patients in Huaibei City in 2017‒2021 was collected from the tuberculosis management information system. Factors associated with time interval between the onset and medical visit were analyzed using rank sum test and multivariate linear regression. Furthermore， factors associated with the delayed medical visit were determined by Chi-square test， Chi-square Cocharan⁃Mantel⁃Haensze test and logistic regression. ResultsThe median time interval between the onset of tuberculosis and medical visit were 22 days among the tuberculosis patients in Huaibei City from 2017‒2021， and the proportion of delayed medical visit was 68.57%. There was an overall decreasing trend in the proportion of delayed medical visit over years （χtrend2=17.342， P=0.002）. Using the multivariate linear regression， positive for Mycobacterium Tuberculosis in the pathogenic diagnosis， and presence of comorbidities were determined to be the risk factors associated with increased time interval between the onset and medical visit. Furthermore， logistic regression analysis showed that patients aged ≤24 years （OR=0.596， 95%CI：0.503‒0.706， P<0.05）， 25‒ years （OR=0.667， 95%CI：0.559‒0.796， P<0.05）， 35‒ years （OR=0.762， 95%CI：0.613‒0.947， P<0.05）， and 45‒54 years （OR=0.838， 95%CI：0.711‒0.987， P<0.05） had significantly lower risk of delayed medical visit than those aged ≥ 55 years old group. Regarding the household registration status， non-local residents had lower risk of delayed medical visit than local residents （OR=0.838， 95%CI：0.732‒0.960， P<0.05）. ConclusionPositive for Mycobacterium tuberculosis in the pathogenic diagnosis， and presence of comorbidities were risk factors associated with increased time interval between the onset and medical visit. The proportion of delayed medical visit among tuberculosis patients in Huaibei City from 2017 to 2021 showed a decreasing trend over 5 years， and age ≥55 years old and local residents were risk factors associated with delayed medical visit.

Clinical phenotype and genetic characteristics of patients with typical 16p11.2 microdeletion syndrome / 中华神经科杂志

Objective:To analyze the clinical phenotype, copy number variation, treatment and follow-up characteristics of children with typical 16p11.2 deletion syndrome.Methods:The clinical data of 10 children with typical 16p11.2 deletion syndrome who were treated in the Department of Neurology, Children′s Hospital of Fudan University from August 2011 to December 2021 were retrospectively collected, and their clinical phenotype, copy number variation, treatment and follow-up were summarized.Results:Among the 10 children, 4 are female and 6 are male, all with epilepsy. Nine patients had epilepsy in infancy, and the age of onset was 6.0 (4.0, 8.5) months. Four cases had focal seizures (1 with fever), 4 had generalized tonic-clonic seizures, and 2 had focal seizures with generalized tonic-clonic seizures. Eight cases had cluster seizures (more than 2 to 10 seizures within 24 hours), and 1 case had 1 status epilepticus. Nine children did not show obvious developmental delay at the onset of epilepsy, and 1 child had developmental delay at the onset of epilepsy at 14 months of age. One child had parallel toes at left foot, and 1 had macrocephaly and low limb muscle tone. Genetic testing found that 10 children carried typical 16p11.2 heterozygous deletion, the starting position of the deletion fragment was Chr16:29478119-29675016, the ending position was Chr16:30125670-30206112, and the deletion length was 525-712 kb, all of which were considered pathogenic variants. In the antiepileptic drug treatment, 4 children were treated with oxcarbazepine, 2 with sodium valproate, 2 was switched to oxcarbazepine after levetiracetam was ineffective, 1 with levetiracetam combined with sodium valproate, and 1 with levetiracetam in combination with sodium valproate and ketogenic diet, and all 10 children had no seizures. One patient developed episodic exercise-induced dyskinesia at school age, and the seizures decreased after treatment with oxcarbazepine. Follow-up of 10 children found that 9 children had different degrees of developmental delay (language was significantly affected), 3 cases were combined with autism-like manifestations, and 1 case had poor comprehension, learning difficulties, and repeated grades after entering regular primary schools.Conclusion:The typical 16p11.2 microdeletion syndrome has the deletion of gene fragments in the proximal region of 16p11.2, characterized by drug-responsive cluster seizures with onset in infancy, which may be accompanied by language delay, autism spectrum disorder and nonspecific malformations.

A case report of mitochondrial enoyl-CoA hydratase short chain 1 deficiency caused by enoyl-CoA hydratase short chain 1 gene mutation / 中华神经科杂志

Objective:To summarize the clinical features and gene mutation characteristics of a child with mitochondrial enoyl-CoA hydratase short chain 1 deficiency (ECHS1D) caused by enoyl-CoA hydratase short chain 1 ( ECHS1) gene mutation. Methods:The clinical characteristics and genetic test results of a child with ECHS1D who visited the Department of Neurology of Xuzhou Children′s Hospital in January 2021 were retrospectively analyzed, and the clinical features of the disease were also reviewed by searching relevant domestic and foreign literature.Results:The child was a 6 months and 4 days old male, with acute onset, the main clinical manifestation being limb movement disorder after admission. The child had slow motor development, his head was still upright and cannot turn over, the child also cannot sit alone, follow up and make a laugh, and the muscle tension of limbs was increased. The child′s blood lactate was increased to 6.2 mmol/L, which suggested metabolic acidosis, and magnetic resonance imaging (MRI) of the head showed abnormal signals in the basal ganglia on both sides, abnormal enhancement of the meninges of the left cerebral hemisphere. Whole exome sequencing revealed that the child had compound heterozygous mutations in ECHS1 gene, c.563C>T (p.A188V) and c.5C>T (p.A2V), respectively. The child′s father carried c.563C>T mutation, the mother carried c.5C>T mutation, all of which were missense mutations. Conclusions:ECHS1 gene mainly has missense mutations, most of which are compound heterozygous mutations, and a few are homozygous mutations. The ECHS1D caused by ECHS1 gene mutation often affects infants and young children. MRI suggests abnormal signals in the basal ganglia; for cases with the above clinical manifestations and abnormal signals in the basal ganglia on MRI, genetic testing should be considered to confirm the diagnosis.

Clinical characteristics and gene analysis of SMC1A gene related disorders / 中华神经科杂志

Objective:To analyze the clinical characteristics and genetic features of SMC1A gene related disorders. Methods:The data of 5 children with SMC1A gene variants were collected from Children′s Hospital of Fudan University from February 2018 to January 2022. The clinical features, electroencephalogram (EEG), brain imaging and gene testing results were summarized. Results:Among the 5 patients, 4 are females and 1 is male. Two female cases are siblings. One boy had dysmorphic features, consisting of bilateral ptosis, synophrys, a short nose and upturned nasal tip. He also had patent foramen ovale plus atrial septal defect, unilateral cryptorchidism and microcephaly. Three cases had microcephaly. Two girls had patent foramen ovale, and 2 girls had microcephaly. Four cases had epilepsy, and age at seizure onset ranged from 2 to 52 months. Multiple seizure types were observed, including bilateral tonic clonic seizures in 2 patients, and focal seizures in 3 patients. The seizures in 3 cases were in cluster. All patients had developmental delay, including 1 patient with mild and 4 patients with moderate to severe developmental delay. Three patients had slow background activity in EEG. Interictal EEG showed abnormal discharges in 4 patients, including focal discharges in 3 cases and generalized discharges in 1 case. Brain magnetic resonance imaging was normal in 3 patients and showed mild cortical thickening in 1 case. All cases harbored 4 SMC1A gene variants, including 2 missense variants and 2 frameshift variants (c.580_587del, c.2699delG, c.3362G>A, c.1486C>T). Three cases harbored heterozygous SMC1A variants and 2 cases carried somatic mosaic SMC1A variants with 17.5% and 88.1% mosaicism in peripheral blood. The follow-up lasted for 3 months to 4 years. The epilepsy was refractory in 2 cases. During the follow-up, all cases had very slow developmental progress or developmental retardation. All cases had different levels of growth retardation. The scores of Cornelia de Lange syndrome (CdLS) phenotypes in 5 cases were 2-6. One case had the combined phenotypes of atypical CdLS and developmental epileptic encephalopathy (DEE). The phenotype was atypical CdLS in 1 case and DEE in 1 case. The phenotypes of 2 cases with SMC1A missense variants were mild, manifesting as non-refractory epilepsy and moderate to severe developmental delay. Conclusions:All of cases with SMC1A gene variants have developmental delay. Most of the patients have clusters of seizures and some dysmorphisms. The phenotypes of SMC1A gene related disorders are diverse. Except CdLS and DEE, there are some patients with mild phenotype due to missense variants of SMC1A gene.

Contrasting effects of DOM and lisuride on impul-sive decision-making in delay discounting task / 中国药理学与毒理学杂志

OBJECTIVE The 5-HT2A receptor is the major target of classic hallucinogens.Both DOM(2,5-dimethoxy-4-methylamphetamine)and lisuride act at 5-HT2A receptors,and lisuride shares comparable affinity with DOM and acts as a partial agonist at 5-HT2A recep-tors.However,not like DOM,lisuride lacks hallucinogenic properties.Impulsive decision-making refers to the prefer-ence for an immediate small reinforcer(SR)over a delayed large reinforcer(LR).The current study aims to compare the effects of DOM and lisuride on impulsive decision-making and further to investigate the possible receptor mechanisms responsible for the actions of the two drugs.METHODS Impulsive decision-making was evaluated in male Sprague-Dawley rats by the percent-age of choice for the LR in delay discounting task(DDT).Delay to the LR changed in an ascending order(0,4,8,16,and 32 s)across one session.RESULTS DOM(0.3 and 0.5 mg·kg-1)increased impulsive decision-making,and the effects of DOM(0.5 mg·kg-1)was blocked by the 5-HT2A receptor antagonist ketanserin(1.0 mg·kg-1)rather than the 5-HT2C receptor antagonist SB-242084(1.0 mg·kg-1).Contrarily,lisuride(0.1,0.3 and 0.5 mg·kg-1)decreased impulsive decision-making.The effects of lisu-ride(0.3 mg·kg-1)were not antagonized by ketanserin(1.0 mg·kg-1),selective 5-HT1A antagonist WAY-100635(1.0 mg·kg-1)or selective dopamine D4 receptor antagonist L-745870(1.0 mg·kg-1),but were attenuated by the selec-tive dopamine D2/D3 receptor antagonist tiapride(40 mg·kg-1).CONCLUSION DOM and lisuride have contrasting effects on impulsive decision-making via distinct recep-tors.DOM-induced increase of impulsivity is mediated by the 5-HT2A receptor,while lisuride-induced inhibition of impulsivity is regulated by the dopamine D2/D3 receptor.

Executive function characteristics of preschool children with high functioning autism and children with global developmental delay / 中华行为医学与脑科学杂志

Objective:To investigate the characteristics of executive function of preschool children with high functioning autism spectrum disorder (HFA) and with global developmental delay (GDD), and the differences among HFA, GDD and typically developmental (TD) children.Methods:From January 2020 to January 2021, 20 male HFA, 20 male GDD and 20 male TD children aged 4-6 years who visited the Psychological Behavior Clinic of the Child Health Department of Guiyang Maternal and Child Health Hospital and the Developmental Behavior Clinic of the Children Health Department of the Ninth People's Hospital in Chongqing were selected for comparative study.The executive function of HFA, GDD and TD children was assessed with the behavior rating scale of executive function-preschool version(BRIEF-P) and the executive function task program (EF-TOUCH). SPSS 26.0 software was used for statistical analysis, including variance test, independent sample t-test, χ2 test, Kruskal Wallis test and Mann-Whitney U test. Results:In the EF-TOUCH program task, the accuracy of the three groups of children's performance in the pig task (Pig), the silly sounds game (SSG), the working memory task (pick the picture, PTP) and the task of cognitive flexibility (something's the same, STS) were statistically different(Pig: HFA group: 0.87(0.76, 0.99), GDD group: 0.97(0.85, 0.99), TD group: 1.00(0.98, 1.00), χ2=15.646, P<0.001; SSG: HFA group: 0.76(0.53, 0.91), GDD group: 0.76(0.65, 0.99), TD group: 0.94(0.76, 1.00), χ2=6.448, P=0.040; PTP: HFA group: 0.66±0.18, GDD group: 0.66±0.19, TD group: 0.78±0.11; F=3.221, P=0.048; STS: HFA group: 0.67(0.63, 0.70), GDD group: 0.72(0.46, 0.78), TD group: 0.87(0.83, 0.90), χ2=26.898, P<0.001). The accuracies of Pig, SSG, PTP and STS in HFA group were significantly lower than those in TD group(all P<0.05), and the accuracies of Pig and STS in GDD group were significantly lower than those in TD group(both P<0.05). In inhibition control, there were statistically differences in response time of Pig and SSG among the three groups (Pig: HFA group: (1 694.36±222.83)ms, GDD group: (1 513.46±244.91)ms, TD group: (1 444.84±197.95)ms, F=5.810, P=0.005; SSG: HFA group: (2 202.42±195.58)ms, GDD group: (2 116.52±323.27)ms, TD group: (1 937.17±252.74)ms, Z=4.610, P=0.014). There were no significant differences in the reaction time of Arrows task ( P>0.05). There were significant differences in BRIEF-P inhibition control, organizational planning, inhibition self-regulation, cognitive flexibility and total scores among the three groups ( P<0.05), while there were no significant differences in the scores of other factors and dimensions ( P>0.05). Conclusion:The executive function of pre-school children with high functioning autism spectrum disorder and children with global developmental delay is impaired.The executive function of children with high functioning autism spectrum disorder and children with global developmental delay is significantly different from that of typically developmental children of the same age.Moreover, the executive function of children with HFA is more severely damaged from all components than that of children with GDD.

Diagnostic value of cardiac magnetic resonance contrast medium perfusion and delayed contrast enhancement for early myocardial ischemia / 中国基层医药

Objective:To investigate the diagnostic value of cardiac magnetic resonance (CMR) contrast medium perfusion and delayed contrast enhancement for early myocardial ischemia.Methods:Ninety-one patients with coronary artery stenosis diagnosed by coronary angiography (CAG) between March 2020 and March 2022 in Yiwu Central Hospital were included in this study. These patients underwent first-pass perfusion cardiac magnetic resonance imaging and delayed enhancement examination. Arrival time ( t0), accumulative signal intensity (ASI), relative peak enhancement rate (SI%), maximum intensity of signal enhancement (SIp), and maximum curve slope (α) were statistically analyzed in the CMR contrast agent normal-dose perfusion and low-dose perfusion segments. The diagnostic value of CMR contrast agent perfusion versus CAG for early myocardial ischemia was determined. The signal intensity was compared between enhanced and non-enhanced areas of CMR contrast agent perfusion. Results:There were significant differences in ASI, SI%, SIp, and Slope (α) between normal perfusion and low perfusion segments ( t = 9.62, 10.65, 8.67, 6.93, all P < 0.05). There was no significant difference in the detection rate of lesioned vessels in early myocardial ischemia between CMR contrast agent perfusion and CAG [50.42% (120/238) vs. 51.68% (123/238), χ2 = 1.32, P = 0.163). There was a significant difference in the detection rate of lesioned vessels in myocardial ischemia between CMR contrast agent perfusion and CAG ( χ2 = 15.31, P < 0.001, r = 0.71). The signal intensity value in the delayed enhancement segment was significantly higher than that in the non-delayed enhancement segment [(598.43 ± 40.19) vs. (298.64 ± 70.58), t =19.85, P = 0.001). Conclusion:CMR contrast agent perfusion can effectively evaluate the severity of early myocardial ischemia and locate the diseased blood vessels. Delayed enhancement can determine the location and area of early myocardial ischemia, and can objectively reflect the severity of myocardial ischemia.

Qualitative study on delayed experience of seeking medical treatment in patients with advanced lung cancer / 中国实用护理杂志

Objective:To explore the causes and feelings of delayed experience of seeking medical treatment in patients with advanced lung cancer, and to provide new insights for more targeted health education and medical care services.Methods:A semi-structured in depth interview based on the theory of planned behavior was conducted among 30 patients with advanced lung cancer who experienced medical delay from November to December in 2021 admitted to First Affiliated Hospital of Guangxi Medical University. The interview content was analyzed and abstracted by using Colaizzi phenomenological analysis method and Nvivo11.0 software.Results:The delay duration of 30 patients with advanced lung cancer ranged from 90 to 213 days. Four subject groups were extracted by generic analysis: the cause of delay, the cause to seek medical help, the worry about the disease, and solutions.Conclusions:The delay behavior of patients with advanced lung cancer is affected by external situational factors such as symptom severity, family economic capacity, social support, accessibility of health services, prevalence of novel coronavirus, and subjective psychological factors such as sense of stigma and burden of disease, it is necessary to reduce the occurrence of medical delay in patients with advanced lung cancer through the comprehensive management strategy of multiple channels.

Effects of Delay in Tumor-Immune System on Stability / 医用生物力学

Objective To study stability of the deterministic tumor-immune system with time delay by means of linear stability analysis method. Methods In tumor-immune system, since it took some time for immune cells to recognize tumor cells and respond appropriately, time delay was considered in this process, then the model was simplified by using Taylor expansion of small delay, and the equilibrium points were solved out. By linear stability analysis method, the stability of these equilibrium points was studied. Finally, the trajectory of the system and that around each equilibrium point were simulated by numerical calculation method, so as to verify the result of theoretical analysis. Results The system had four meaningful equilibrium points with small delay, including a stable focus, a stable node, and two saddles. Moreover, the type and stability of these equilibrium points were not affected by the delay. Numerical simulation demonstrated the conclusion from theoretical analysis. Conclusions Under the condition of small delay, the type and stability of equilibrium points in the system are notaffected by the delay. The results are helpful to further understand dynamic mechanisms of tumor immune response, and provide references for tumor growth and treatment

Delay in identification, healthcare-seeking, and definitive diagnosis of tuberculosis among students in Urumqi City from 2010 to 2019 / 预防医学

Objective@#To investigate the delay in identification, healthcare-seeking, and definitive diagnosis of tuberculosis among students in Urumqi City from 2010 to 2019, and to identify the influencing factors, so as to provide insights into tuberculosis control among students.@*Methods@#The demographic and diagnosis data of tuberculosis patients in Urumqi City from 2010 to 2019 were captured from the Tuberculosis Information Management System of Chinese Disease Control and Prevention Information System. The delay in identification, healthcare-seeking and definitive diagnosis of tuberculosis was analyzed among students, and the factors affecting the delay in identification, healthcare-seeking and definitive diagnosis of tuberculosis were identified using a multivariable logistic regression model. @*Results@#A total of 996 tuberculosis cases were identified among students in Urumqi City from 2010 to 2019. There were 702 students with delay in identification of tuberculosis (70.48%), 500 students with delay in healthcare-seeking (55.22%) and 534 students with delay in definitive diagnosis (53.61%). Multivariable logistic regression analysis identified active identification (OR=0.116, 95%CI: 0.032-0.420) as a factor affecting delay in identification of tuberculosis, women (OR=1.424, 95%CI: 1.104-1.836), non-local household registration (OR=1.311, 95%CI: 1.016-1.694) and active identification (OR=0.232, 95%CI: 0.064-0.848) as factors affecting delay in healthcare-seeking, and active identification (OR=0.143, 95%CI: 0.032-0.644) as a factor affecting delay in definitive diagnosis of tuberculosis among students.@*Conclusions@#There is a high proportion of delay in identification, healthcare-seeking and definitive diagnosis of tuberculosis among students in Urumqi City from 2010 to 2019, and female and non-locally household-registered students were at a high risk of delay in healthcare-seeking for tuberculosis. Active detection and screening of tuberculosis should be reinforced.

Practical Optimization and Application of Time-delay Exposure System for Mobile Digital Radiography Equipment / 中国医疗器械杂志

This study introduced a time-delay exposure system independent of the mobile digital radiography equipment. The system consisted of lithium battery, delay control circuit, micro electric motor and related auxiliary facilities. When the starting time was reached through the delay circuit, the motor pushed out the rod to squeeze the exposure button and completed the exposure. The accessories used in this system were easy to purchase and cheap. At the same time, the technology was mature and had good compatibility. The exposure success rate was high and the exposure effect was satisfactory. This time-delay exposure system had good practicability and popularization value.

Diagnostic Methods of Global Developmental Delay Caused by 10q24.3 Heterozygous Loss： A Case Discussion / 中山大学学报(医学科学版)

ObjectiveTo discuss the diagnostic methods of global developmental delay caused by 10q24.3 heterozygous loss. MethodsA retrospective analysis was conducted on the clinical data of one child with global developmental delay， and the results of low depth whole-genome copy number variation sequencing （CNVseq） and family whole exome sequencing （WES） of the child and his parents. ResultsThe patient was a 10-month-old male with developmental retardation in four areas， with some special features （ocular hypertelorism， strabismus， flat nose bridge， protruding forehead， cleft palate， high palatal arch， etc.） and hypotonia of limbs. The CNVseq and WES test showed that the patient had new 10q24.3 heterozygosis loss. Because this region contains the gene SUFU associated with basal cell nevus syndrome and the gene CNNM2 associated with hypomagnesemia， seizures， and mental retardation， and the gene TRIM8 associated of Focal segmental glomerulosclerosis with neurodevelopmental syndrome， we speculated that the cause of the disease in the child was highly related to the heterozygosity deletion of SUFU gene and CNNM2 gene and TRIM8 gene. ConclusionGenetic testing should be improved as soon as possible for children with global developmental delay and special facial manifestations， so as to make clear diagnosis and to judge prognosis.

Current Situation and Influencing Factors of Delay in Seeking Medical Treatment Among Residents in Rural Areas of Sichuan Province / 中国医学科学院学报

Objective To understand the current situation and explore the influencing factors of delay in seeking medical treatment for common symptoms of residents in the rural areas of Sichuan province. Methods In July 2019,multi-stage random sampling was carried out in Zigong city,Sichuan province,and the data were collected by face-to-face questionnaire interview.The residents who had lived at hometown for more than half a year in the past year and had seen a doctor in the most recent month were surveyed.Logistic regression was adopted to predict the influencing factors of delay in seeking medical treatment. Results A total of 342 subjects were enrolled,and the incidence of delay in seeking medical treatment was 13.45%(46/342).Compared with the young and middle-aged(<65 years)people,the elderly(≥65 years)people were more likely to have delay in seeking medical treatment (OR=2.187,95%CI=1.074-4.457,P=0.031).The rural residents who gave higher score of the overall quality of township health centers were less likely to have delay in seeking medical treatment (OR=0.854,95%CI=0.735-0.992,P=0.039). Conclusions The occurrence of delay in seeking medical treatment for common symptoms of rural residents in Sichuan province is low.Age and the overall quality evaluation of township health centers affect the occurrence of delay in medical treatment among the rural residents in Sichuan province.Efforts should be made to improve the awareness of disease prevention among the elderly in rural areas.The investment in health resources in township health centers should be increased to strengthen the introduction and training of talents.These measures can improve the health services in township health centers,guide residents to make timely use of health resources,and reduce the occurrence of delay in seeking medical treatment.