Fatores que aumentam o tempo do processo judicial no Brasil / Factores que aumentan el tiempo del proceso judicial en Brasil / Factors increasing case disposition time in Brazil

Resumo A morosidade judicial no Brasil é um problema grave e persistente. Este trabalho ajuda a compreender as causas desse problema, na medida em que identifica e discute 12 fatores que aumentam o tempo do processo judicial no país, os quais foram identificados com base na análise de conteúdo de entrevistas com 15 atores-chave do sistema brasileiro de Justiça, entre juízes, promotores e advogados. Cada um dos fatores foi discutido segundo a literatura acadêmica, relatórios oficiais e indicadores de desempenho. Os achados da pesquisa mostram que fatores como o baixo custo do ajuizamento, a ausência de punição a litigantes repetitivos e o ajuizamento de execuções fiscais promovem uma sobrecarga de processos nos tribunais. O Judiciário também parece sobrecarregado por atribuições que extrapolam a função jurisdicional, como coletar evidências e localizar devedores e bens. O excesso de disputas e atribuições teria tornado a máquina judiciária brasileira grande e lenta, além de cara. Políticas públicas de redução da morosidade judicial no país são sugeridas.

Resumen Las demoras judiciales en Brasil son un problema grave y persistente. Este trabajo ayuda a comprender las causas de este problema, ya que identifica y discute 12 factores que aumentan la duración del proceso judicial en el país. Los factores fueron identificados a partir del análisis de contenido de entrevistas con 15 actores clave del sistema de justicia brasileño, entre jueces, fiscales y abogados. Cada factor fue discutido con base en la literatura académica, informes oficiales e indicadores de desempeño. Los hallazgos de la investigación muestran que factores como el bajo costo de presentación, la ausencia de sanción para los litigantes reincidentes y la presentación de ejecuciones fiscales promueven una sobrecarga de procesos en los tribunales. El Poder Judicial también parece estar cargado de atribuciones que van más allá de la función jurisdiccional, como reunir pruebas y localizar deudores y bienes. El exceso de disputas y asignaciones habría hecho grande y lenta la máquina judicial brasileña, además de costosa. Se sugieren políticas públicas para reducir las demoras judiciales en el país.

Abstract Judicial delay in Brazil is a severe and persistent problem. This work helps to understand the causes of this issue, by identifying and discussing 12 factors that increase the length of the judicial process in the country. These factors were identified through content analysis of interviews with 15 key players in the Brazilian justice system, including judges, prosecutors, and lawyers. Each factor was discussed based on academic literature, official reports, and performance indicators. The research findings show that factors such as the low cost of filling, the absence of punishment for repetitive litigants, and tax foreclosures promote an overload of processes in the courts. The Judiciary also seems to be burdened with attributions beyond the jurisdictional function, such as collecting evidence and locating debtors and assets. The excess of disputes and assignments has made the Brazilian judicial machine large, slow, and expensive. Public policies to reduce judicial delays in the country are suggested.

¿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)

Descuento sexual y conductas sexuales arriesgadas en una muestra de adultos jóvenes de Colombia / Sexual Discounting and Sexual Risk Behavior in a Sample of Young Adults from Colombia / Desconto sexual e comportamento sexual de risco em uma amostra de jovens adultos da Colômbia

El objetivo del presente trabajo fue describir la tasa de descuento sexual y evaluar la relación entre el autorreporte de conductas sexuales arriesgadas (csa) y el descuento sexual en una muestra de adultos jóvenes en Colombia. Para esto, se realizó una investigación no experimental de corte transversal y correlacional. Ciento treinta y seis participantes fueron sometidos a un cuestionario de autorreporte de conductas de riesgo sexual, a la tarea de descuento sexual (sddt) y al cuestionario de elección monetaria (mcq). Los análisis de la curva de descuento sexual demuestran que el valor de la opción de tener sexo seguro disminuye con el in-cremento en la demora en la obtención de un condón (i. e., descuento sexual). Adicionalmente, se observa que el grado de descuento sexual está asociado con csa, como el número de parejas sexuales y el número de relaciones sexuales en los últimos tres meses, y que hay una diferencia en el patrón de descuento sexual entre hombres y mujeres.

The goal of this study was to describe the rate of sexual discounting and its relation with the self-report of sexual risk behavior in a sample of young adults from Colombia. To achieve this goal, a correlational cross-sectional non-experimental study was done. One hundred thirty six young adult participants responded to a sexual risk behavior self-report questionnaire, a sexual delay discounting task (sddt), and a monetary choice questionnaire (mcq). The results suggest that the value of the safe sex option decreases with the delay to obtain a condom (i. e., sexual discounting). Additionally, it was observed that the sexual discounting rate was associated with the self-report of sexual risk behavior, like, the number of sexual partners and sexual encounters in the last three months. It was also observed a different pattern of sexual discounting between men and women

O objetivo deste estudo foi descrever a taxa de desconto sexual e avaliar a relação entre o autorrelato de com-portamentos sexuais de risco (csr) e o desconto sexual em uma amostra de jovens adultos na Colômbia. Para isso, foi realizada uma investigação não experimental, transversal e correlacional. 136 participantes foram submetidos a um questionário de comportamentos se-xuais de risco autorreferidos, à tarefa de desconto sexual (sddt) e ao questionário de escolha monetária (mcq). As análises da curva de desconto sexual mostram que o valor da opção de praticar sexo mais seguro diminui com o aumento do atraso na obtenção do preservativo (ou seja, desconto sexual). Adicionalmente, observa-se que o grau de desconto sexual está associado à csr, assim como o número de parceiros sexuais e o número de relações sexuais nos últimos 3 meses, e que existe uma diferença no padrão de desconto sexual entre homens e mulheres.

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.

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.

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.

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.

Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients / 浙江大学学报·医学版

OBJECTIVES@#To analyze the clinical and genetic characteristics of children with autosomal dominant neurodevelopmental disorders caused by kinesin family member 1A (KIF1A) gene variation.@*METHODS@#Clinical and genetic testing data of 6 children with KIF1A gene de novo heterozygous variation diagnosed in Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine from the year 2018 to 2020 were retrospectively analyzed. Pathogenic variants were identified based on whole exome sequencing, and verified by Sanger sequencing. Moreover, the effect of variants on three-dimensional structure and stability of protein was analyzed by bioinformatics.@*RESULTS@#Among 6 patients there were 4 males and 2 females, and the age of consultation varied from 7 months to 18 years. All cases had varying degrees of motor developmental delay since childhood, and 4 of them had gait abnormalities or fell easily. In addition, 2 children were accompanied by delayed mental development, epilepsy and abnormal eye development. Genetic tests showed that all 6 cases had heterozygous de novo variations of KIF1A gene, including 4 missense mutations c.296C>T (p.T99M), c.761G>A (p.R254Q), c.326G>T (p.G109V), c.745C>G (p.L249V) and one splicing mutation c.798+1G>A, among which the last three variants have not been previously reported. Bioinformatics analysis showed that G109V and L249V may impair their interaction with the neighboring amino acid residues, thereby impacting protein function and reducing protein stability, and were assessed as "likely pathogenic". Meanwhile, c.798+1G>A may damage an alpha helix in the motor domain of the KIF1A protein, and was assessed as "likely pathogenic".@*CONCLUSIONS@#KIF1A-associated neurological diseases are clinically heterogeneous, with motor developmental delay and abnormal gait often being the most common clinical features. The clinical symptoms in T99M carriers are more severe, while those in R254Q carriers are relatively mild.

Differential diagnosis of autism spectrum disorder and global developmental delay based on machine learning and Children Neuropsychological and Behavioral Scale / 中国当代儿科杂志

OBJECTIVES@#To investigate the efficacy and required indicators of Children Neuropsychological and Behavioral Scale-Revision 2016 (CNBS-R2016) in the differential diagnosis of autism spectrum disorder (ASD) and global developmental delay (GDD).@*METHODS@#A total of 277 children with ASD and 415 children with GDD, aged 18-48 months, were enrolled as subjects. CNBS-R2016 was used to assess the developmental levels of six domains, i.e., gross motor, fine motor, adaptive ability, language, social behavior, and warning behavior, and a total of 13 indicators on intelligence age and developmental quotient (DQ) were obtained as the input features. Five commonly used machine learning classifiers were used for training to calculate the classification accuracy, sensitivity, and specificity of each classifier.@*RESULTS@#DQ of warning behavior was selected as the first feature in all five classifiers, and the use of this indicator alone had a classification accuracy of 78.90%. When the DQ of warning behavior was used in combination with the intelligence age of warning behavior, gross motor, and language, it had the highest classification accuracy of 86.71%.@*CONCLUSIONS@#Machine learning combined with CNBS-R2016 can effectively distinguish children with ASD from those with GDD. The DQ of warning behavior plays an important role in machine learning, and its combination with other features can improve classification accuracy, providing a basis for the efficient and accurate differential diagnosis of ASD and GDD in clinical practice.

Börjeson -Forssman -Lehmann syndrome: A case report / 中南大学学报(医学版)

Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of PHF6 gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodactylia, and linear skin hyperpigmentation. The gene results of the second-generation sequencing technology showed that there was a novel heterozygous mutation site c.346C>T (p.Arg116*) of the PHF6 (NM032458.3), variation rating as pathogenic variation. During the follow-up, the patient developed astigmatism, strabismus, awake bruxism, and stereotyped behavior, and the linear skin hyperpigmentation became gradually more evident. The disease is lack of effective therapy so far.

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.

Nutritional status and its influencing factors in children with newly diagnosed inflammatory bowel disease / 中国当代儿科杂志

OBJECTIVES@#To investigate the nutritional status and its influencing factors in children with newly diagnosed inflammatory bowel disease (IBD).@*METHODS@#A retrospective analysis was conducted on the clinical data of children who were diagnosed with IBD for the first time in Hunan Children's Hospital from January 2015 to December 2021. Diagnostic delay was defined as the time from the symptom onset to IBD diagnosis being in the upper quartile (P76-P100) of all IBD children in the study. Multivariate logistic regression analysis was used to explore the risk factors for emaciation and growth retardation.@*RESULTS@#A total of 125 children with newly diagnosed IBD were included, with Crohn's disease being the main type (91.2%). The rates of emaciation and growth retardation were 42.4% (53 cases) and 7.2% (9 cases), respectively, and the rate of anemia was 77.6% (97 cases). Diagnostic delay was noted in 31 children (24.8%), with the time from the symptom onset to IBD diagnosis of 366 to 7 211 days. Multivariate logistic regression analysis showed that diagnostic delay was a risk factor for emaciation and growth retardation (OR=2.73 and OR=4.42, respectively; P<0.05) and that age was positively associated with emaciation (OR=1.30, P<0.05).@*CONCLUSIONS@#Children with newly diagnosed IBD have poor nutritional status, and the rates of anemia, emaciation, and growth retardation are high. Diagnostic delay is associated with malnutrition in children with IBD.

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.

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.