Neoplasia endócrina múltiple y enfermedad inflamatoria intestinal de inicio muy temprano. Una asociación inesperada / Multiple endocrine neoplasia and very early onset in flammatory bowel disease. An unexpected association

Resumen La enfermedad inflamatoria intestinal de inicio muy temprano (VEOIBD) es una entidad rara en pediatría. Es conocida su asociación con inmunodeficiencias prima rias de origen monogénico. Presentamos el caso de una paciente con diagnóstico de VEOIBD a quien se le realizó una secuenciación masiva del exoma. El resultado del estudio permitió identificar una variante patogénica en el proto oncogen RET, asociada con enfermedad neoplasia endocrina múltiple tipo 2A. No hay reportes de asociación de variantes en el proto oncogen RET con VEOIBD. No se puede adjudicar la presencia de estas dos entidades clínicas a una única causa genética.

Abstract Very early onset inflammatory bowel disease (VEOI BD) is a rare entity in pediatrics. Its association with pri mary immunodeficiencies of monogenic origin is known. We present the case of a patient diagnosed with VEOIBD who underwent massive paralleled exome sequencing. The result of the study showed a pathogenic variant in the RET proto-oncogene, associated with multiple endo crine neoplasia type 2A disease. There are no previous reports of association of RET proto-oncogene variants with VEOIBD. The presence of these two clinical entities cannot be attributed to a single genetic cause.

Establishment of a Chinese neonatal model of early-onset sepsis based on the Kaiser Permanente sepsis risk calculator / 中华实用儿科临床杂志

Objective:To construct a Chinese neonatal model of early-onset sepsis (EOS) using the Kaiser Permanente sepsis risk calculator and laboratory indicators and validate its clinical prediction potential.Methods:Newborns with a gestational age of ≥34 weeks, who were hospitalized in the Department of Neonatology, the First Affiliated Hospital of Zhengzhou University from January 2020 to June 2022 were retrospectively recruited.Their clinical data were collected.Predictors were screened via the multivariate regression analysis, and the Nomogram model was constructed using R software and RStudio software.Hosmer-Lemeshow test, receiver operating characteristic curve, the decision curve analysis (DCA) were used to evaluate the prediction potential of the Nomogram.Results:A total of 769 patients were enrolled, including 107 patients in the EOS group (5 culture-confirmed cases and 102 clinically diagnosed cases), and 662 cases in the non-EOS group.Ten variables were screened and introduced into the Nomogram, including the gestational age, birth weight, body temperature, white blood cell count, C-reactive protein, procalcitonin, premature rupture of membranes≥18 h, infection of Group B Streptococcus, ventilator application, and prenatal antibiotics.The predictive model showed good discrimination and consistency, with the area under the curve of 0.834 (95% CI: 0.771-0.896). The DCA of the prediction model showed that it was effective in clinical application within the effective threshold of 6%-95%, with a net benefit following the application of corresponding treatment measures. Conclusions:A Chinese neonatal model of EOS was created by using the Kaiser Permanente sepsis risk calculator and laboratory indicators, which has been validated effective.It provides references for clinical management and the guidance for the use of antibiotics.

Progress in the pathogenesis and treatment of very early-onset inflammatory bowel disease caused by deficiency of interleukin-10 signaling pathway / 中华实用儿科临床杂志

Very early onset inflammatory bowel disease (VEO-IBD) in children refers to an IBD with the onset age of less than 6 years old, clinically characterized by recurrent colitis, perianal lesions, and nutrient absorption disorders.Different from adults, single gene mutation plays an important role in the pathogenesis of VEO-IBD.To date, about 70 single gene defects have been identified involving the pathogenesis of VEO-IBD, including epithelial barrier, neutrophil and phagocyte function, immune cell selection and activation, immunosuppressive mechanism, or apoptosis.Interleukin-10 (IL-10) is an anti-inflammatory cytokine that regulates innate and adaptive immunity, influences the expression of pro-inflammatory molecules and the function of multiple immune cells, and plays a vital role in the development and progression of IBD.Patients with defects in the IL-10 signaling pathway (IL-10 or IL-10 receptor deficiency) may develop life-threatening colitis as early as childhood.This article reviews the progress in the pathogenesis and treatment of VEO-IBD caused by IL-10 signaling pathway defects.

SIM1 gene mutation-associated early onset obesity: a case report and literature review / 中华实用儿科临床杂志

Clinical data of a child with SIM1 gene mutation-related obesity who visited Beijing Children′s Hospital, Capital Medical University in February 2022 was retrospectively analyzed.This 5-year-and-4-month-old girl was admitted for early onset obesity.She showed obesity at 29 months old, accompanied by severe obstructive sleep apnea syndrome.The patient and her mother had heterozygous variations in the SIM1 gene.Literature has reported a total of 42 patients with obesity caused by SIM1 gene mutations from different families in the world, and nearly 1/3 of patients had clinical manifestations beyond obesity, such as developmental delay, cognitive and behavioral problems, mild dysmorphic appearance, and neuroendocrine abnormalities.The patient in this study was mainly characterized by early onset obesity.At present, 58 SIM1 gene mutations are found to be related to obesity, which are mostly concentrated in the C-terminal domain.The allele frequency of p. T46R and p. D707H has reached 9.5%; therefore, p.T46R and p. D707H are considered hot spot variations, suggesting that SIM1 gene analysis should be improved for patients with early onset obesity.

Visualization analysis of magnetically controlled growing rod in treatment of spinal deformities / 中国组织工程研究

BACKGROUND:With the continuous improvement and progress of the magnetically controlled growing rod technology in the field of the treatment of spinal deformities,numerous studies have been put into this field,but the main research status,hot spots,and development trends are not clear enough. OBJECTIVE:Based on bibliometrics,this paper discusses the quality and quantity of articles in the field of using magnetically controlled growing rods to treat spinal deformities from different countries,aiming to clarify the global development trend of magnetically controlled growing rods and evaluate the research productivity,research trends,and research hotspots in the world. METHODS:The articles published from 1998 to 2023 were retrieved mainly based on the Web of Science database.CiteSpace 5.8 and VOSviewer 1.6.19 software were used to analyze the data and generate a visual knowledge map.The following parameters were evaluated for all studies:the total number of published papers,centrality,h index,the contribution of countries,authors,and journals,and the trend and hot spots were explored through the analysis of co-citation,highly cited literature,and literature keyword explosion. RESULTS AND CONCLUSION:(1)Finally,138 articles were included.From 2009 to 2020,the number of published articles in this field gradually increased.The United States has the largest number of articles(53,37.32%),and the United States has the highest h index and centrality of articles.(2)The results of keyword analysis showed that:the top ten keywords,such as early-onset scoliosis,surgery,complications,and so on,objectively and truly reflected the current situation and hot spots of magnetically controlled growing rod in the field of spinal deformity treatment.In recent years,the research focus in this field is the treatment failure caused by risk factors such as the pull-out of the magnetically controlled growing rod,implantation failure,and rod fracture,the accurate use of the corresponding medical classification,the monitoring and treatment of complications such as quality of life and cerebral palsy.(3)The co-citation results showed that:combined with the innovative and effective research of the magnetically controlled growing rod technology,the classification application of spinal deformity and the monitoring and treatment of related complications may be the research trend in this field.(4)Many highly cited articles further emphasized the therapeutic effect of magnetically controlled growing rod technology,providing an effective new idea and technical support for the field of spinal deformity correction.(5)The results of literature keyword explosion analysis demonstrate that the risk factors,medical classification,quality of life,and cerebral palsy of the application of magnetically controlled growing rods may become the research frontier in this field.(6)It can be seen that the application of magnetically controlled growing rod technology in the classification of spinal deformities and the in-depth study of related complications are the development trend in this field,but to further understand the effectiveness and safety of magnetically controlled growing rod technology in the treatment of spinal deformities,we still need long-term follow-up evidence.The overall research level of this field has steadily improved in recent years,but there are also problems such as the small number of high-quality articles and the unbalanced development of research in various regions.

Factors Affecting Early-onset Sepsis in Preterm Infants and Construction of Nomogram Model / 医学研究杂志

Objective To analyze the factors influencing early-onset sepsis in preterm infants and construct nomogram model.Methods A total of 124 neonates with premature sepsis admitted to Shanxi Children's Hospital(Shanxi Maternal and Child Health Hos-pital)from January 2020 to December 2021 were collected.According to gestational age,the neonates were divided into premature group(n=33)and full-term group(n=91),and the clinical characteristics of the two groups were compared,and nomogram model was es-tablished to internally validate the predictiveness and accuracy of the model.Results Compared with the full-term group,the proportion of females in premature group was higher(x2=7.147,P＜0.05),the 1min Apgarscore in premature group was lower(x2=-3.398,P＜0.05),the proportion of perinatal mothers with pregnancy complications in premature group was higher(x2=7.846,P＜0.05),the incidence of pneumonia and poor response in preterm infants of premature group were higher(x2=18.210,P＜0.05;x2=14.814,P＜0.05),but the incidence of jaundice in premature group was lower(x2=10.400,P＜0.05).Multivariate Logistic regression analysis showed that female and pneumonia were risk factors for early-onset sepsis in preterm infants(P＜0.05).The results of the nomogram model showed that the C-index of the model was 0.886.The predicted incidence was generally consistent with the actual incidence,the area under the receiver operator characteristic curve was 0.886,and the decision curve showed a high net benefit value at threshold proba-bilities of 4％-100％.Conclusion Female,preterm infants with pneumonia have a higher risk of early-onset sepsis.The nomogram model of premature sepsis constructed in this study has high clinical value and can provide a reference basis for clinical prevention of early-onset sepsis in preterm infants.

Improved efficiency in the management of newborns with infectious risk factors by the sepsis risk calculator and clinical observation

Abstract Objective To evaluate the efficiency of the sepsis risk calculator and the serial clinical observation in the management of late preterm and term newborns with infectious risk factors. Method Single-center, observational, two-phase cohort study comparing the rates of neonates born ≥35 weeks' gestation, ≥2000 g birthweight, and without major congenital anomalies, who were screened and/or received antibiotics for early-onset neonatal sepsis risk at our center during two periods, before (January/2018-June/2019) and after (July/2019-December/2020) the implementation of the sepsis risk calculator. Results A total of 1796 (Period 1) and 1867 (Period 2) patients with infectious risk factors were included. During the second period, tests to rule out sepsis were reduced by 34.0 % (RR, 95 %CI): 0.66 (0.61, 0.71), blood cultures by 13.1 %: 0.87 (0.77, 0.98), hospital admissions by 13.5 %: 0.86 (0.76, 0.98) and antibiotic administration by 45.9 %: 0.54 (0.47, 0.63). Three cases of early-onset neonatal sepsis occurred in the first period and two in the second. Clinical serial evaluation would have detected all true cases. Conclusions The implementation of a sepsis risk calculator in the management of newborns ≥35 weeks GA, ≥2000 g birthweight, without major congenital anomalies, with infectious risk factors is safe and adequate to reduce laboratory tests, blood cultures, hospital admissions, and antibiotics administration. Serial clinical observation, in addition, could be instrumental to achieve or even improve this goal.

Relationship between age and the histopathological features to chemotherapy response in colorectal cancer patients: a prospective observational study

Introduction: Chemotherapy response in early age-onset colorectal cancer patients is still controversial, and the results of chemotherapy response are unknown. Therefore, the purpose of this study is to determine the relationship between the age of colorectal cancer patients and histopathological features and chemotherapy response. Methods: This is a prospective observational study. The subjects in this study were colorectal cancer patients in the Digestive Surgery division at Tertiary Hospital in West Java from September 2021 to September 2022. Results: There were 86 subjects who underwent chemotherapy in accordance with the inclusion and exclusion criteria. Consisting of 39 patients of early age onset and 44 female patients. The most common histopathological feature in early age onset (EAO) and late age onset (LAO) was adenocarcinoma (25% and 46%, respectively). Stage III colorectal cancer affected 38 patients, while stage IV affected 48 patients. There was a significant relationship between early age onset and late age onset with histological features (p < 0.001). The patients with the highest chemotherapy response had stable diseases in EAO (17 patients) and LAO (20 patients). There was no statistically significant relationship between age, histological features, and stage of colorectal cancer and chemotherapy response (p > 0.05). The results of the ordinal logistic regression test showed no systematic relationship between chemotherapy response and age, histopathological features, gender, or cancer stage (p > 0.05). Conclusion: There was no association between age and histopathologic features with chemotherapy response and there is no difference in chemotherapy response between early and late age onset. (AU)

Câncer colorretal de início precoce: uma análise de onze anos das características clinicopatológicas em um centro de saúde terciário / Early-onset colorectal cancer: an eleven-year analysis of clinicopathological characteristics at a tertiary healthcare center

ABSTRACT Background: Early-onset colorectal cancer (EO-CRC) incidence has increased significantly worldwide in recent years, and these individuals frequently have advanced disease at the time of diagnosis. This study examines the clinicopathological characteristics of EO-CRC cases diagnosed at an academic healthcare center in Spain. Methods: A retrospective record review study of patients diagnosed with EO-CRC from 2010 to 2021 was performed. Clinical and pathological data were collected. Results: A total of 101 patients were included. The majority of cases (75.3%) were diagnosed in the age group between 40 and 49 years, specifically within the subgroup of 46-49 years. A family history of colorectal cancer was found in 23% of patients. Left-sided tumors were more common (43.6%), and most patients were diagnosed at advanced stages (34.7% at stage III and 32.7% at stage IV). The majority of patients (94.1%) were symptomatic, with rectal bleeding being the most prevalent clinical presentation. The most frequent histological type was moderately differentiated adenocarcinoma (44.6%). KRAS mutant tumors were found in 18.8% and BRAF mutant tumors in 11.9%. 67.3% had microsatellite stability. Tumor recurrence occurred in 24.8% of the patients, while 27.7% of the patients died. Conclusion: From 2010 to 2021, EO-CRC accounted for 3% of all colorectal cancer cases. To improve early diagnosis and treatment, physicians should maintain a high suspicion of red flag symptoms in young patients. To decrease EO-CRC morbidity and mortality, starting diagnostic screening tests at age 45 should be considered.

RESUMO Contexto: A incidência de câncer colorretal de início precoce (CCR-IP) tem aumentado significativamente em todo o mundo nos últimos anos, e esses indivíduos frequentemente apresentam doença avançada no momento do diagnóstico. Este estudo examina as características clinicopatológicas dos casos de CCR-IP diagnosticados em um centro de saúde acadêmico na Espanha. Métodos: Realizado um estudo retrospectivo de revisão de prontuários de pacientes diagnosticados com CCR-IP de 2010 a 2021. Dados clínicos e patológicos foram coletados. Resultados: Foram incluídos um total de 101 pacientes. A maioria dos casos (75,3%) foi diagnosticada na faixa etária entre 40 e 49 anos, especificamente dentro do subgrupo de 46 a 49 anos. Histórico familiar de câncer colorretal foi encontrado em 23% dos pacientes. Tumores do lado esquerdo foram mais comuns (43,6%), e a maioria dos pacientes foi diagnosticada em estágios avançados (34,7% no estágio III e 32,7% no estágio IV). A maioria dos pacientes (94,1%) apresentava sintomas, sendo o sangramento retal a apresentação clínica mais prevalente. O tipo histológico mais frequente foi adenocarcinoma moderadamente diferenciado (44,6%). Tumores com mutação KRAS foram encontrados em 18,8% e tumores com mutação BRAF em 11,9%. 67,3% apresentavam estabilidade de microssatélites. A recorrência do tumor ocorreu em 24,8% dos pacientes, enquanto 27,7% dos pacientes morreram. Conclusão: De 2010 a 2021, o CCR-IP representou 3% de todos os casos de câncer colorretal. Para melhorar o diagnóstico precoce e o tratamento, os médicos devem manter uma alta suspeita de sintomas de alerta em pacientes jovens. Para diminuir a morbidade e a mortalidade do CCR-IP, a consideração de iniciar exames de triagem diagnóstica aos 45 anos deve ser considerada.

Clinical and metabolic characteristics of males with early-onset androgenetic alopecia

Background: Men with early-onset androgenetic alopecia (AGA) often have an abnormal hormonal milieu. Objective: To ascertain the clinico-phenotypic characteristics and the prevalence of hormonal and metabolic changes in men with early-onset AGA. Methods: Consecutive male patients less than 30 years of age with a Norwood-Hamilton grade ?3 AGA were recruited in this comparative cross-sectional study. After endocrine evaluation they were classified into two groups, that is, Group A consisting of subjects with an altered hormonal profile and Group B with normal hormonal profiles. The groups were assessed for differences in disease phenotype and severity (Norwood-Hamilton grade), insulin resistance and parameters of metabolic syndrome (ATP III guidelines). Results: Altered hormonal profiles were seen in 34 of the 100 subjects with AGA, while insulin resistance and metabolic syndrome were noted in 44 and 26 respectively. Altered hormonal profiles were significantly associated with insulin resistance and severe alopecia (grade 4 and above Hamilton-Norwood Scale). Insulin resistant Group A patients had a significantly higher prevalence of severe alopecia (>grade 4) (P = 0.0036). The prevalence of metabolic syndrome was similar in both groups. Limitation: The cross sectional study design was a drawback of this study. Further, a control arm without AGA was not included and the sample size of 100 was selected arbitrarily. Conclusion: An altered hormonal profile and insulin resistance was noted in a third of the males with early-onset AGA. Subjects with altered hormonal profiles had a higher prevalence of insulin resistance and were likely to have severe grades of AGA

Prevalencia de sepsis neonatal confirmada microbiológicamente en una maternidad de la Ciudad Autó noma de Buenos Aires / Prevalence of microbiologically confirmed neonatal sepsis at a maternity center in the City of Buenos Aires

Introducción. En neonatos internados es frecuente sospechar sepsis neonatal, pero solo en el 25 % al 30 % se confirma con cultivos positivos. La selección del esquema antibiótico basándose en la epidemiología local favorece el uso racional y minimiza sus efectos colaterales. Objetivo primario. Describir la prevalencia de sepsis precoz y tardía con rescate microbiológico y sus características clínicas. Población y método. Estudio transversal retrospectivo, realizado del 1 de enero de 2013 al 31 de diciembre de 2017, en una maternidad pública de Argentina, que incluyó todos los recién nacidos internados en la unidad con diagnóstico de sepsis precoz y tardía con rescate microbiológico, y aquellos reingresados dentro del mes de vida. Resultados. Ingresaron 3322 recién nacidos, 1296 evaluados por sospecha de sepsis precoz, cultivos positivos en 25 (1,9 %; tasa: 0,86 ‰). El 52 % eran menores de 33 semanas de edad gestacional. Microorganismos: Escherichia coli 5, Listeria monocytogenes 4, Streptococcus agalactiae (SGB) 3, Streptococcus pneumoniae 3. Sepsis tardía (tasa 8,73 ‰), el 68 % ocurridas en menores de 33 semanas. Microorganismos intrahospitalarios: Staphylococcus coagulasa negativos 115, Staphylococcus aureus 47, Escherichia coli 30, Cándida spp. 16, Enterococcus faecalis 13, Klebsiella pneumoniae 11 y Streptococcus agalactiae 10. En los reingresos: E. coli 11, S. aureus 12, SGB 3 y Haemophilus influenzae 3. Conclusiones. Se observa en el período estudiado una frecuencia de sepsis precoz similar a los reportes internacionales, con predominio de E. coli y L. monocytogenes. La tasa de sepsis tardía presentó una tendencia descendente en los años analizados, con predominio de los cocos grampositivos

Introduction. Neonatal sepsis is often suspected in hospitalized newborn infants, but only in 25­30% of cases it is confirmed via a positive culture. Selecting the antibiotics based on local epidemiology favors their rational use and minimizes their side effects. Primary objective. To describe the prevalence of early- and late-onset sepsis with microorganism isolation and their clinical characteristics. Population and method. Retrospective, cross-sectional study conducted between 01-01-2013 and 12-31-2017 in a public maternity center of Argentina in all hospitalized newborn infants with a diagnosis of early- and late-onset sepsis with microorganism isolation, and those re-admitted in their first month of life. Results. A total of 3322 newborn infants were admitted; 1296 were assessed for suspected early- onset sepsis; 25 had a positive culture (1.9%; rate: 0.86‰). Of these, 52% were born before 33 weeks of gestation. Microorganisms: Escherichia coli 5, Listeria monocytogenes 4, Streptococcus agalactiae (SGB) 3, Streptococcus pneumoniae 3. Also, 68% of late-onset sepsis cases (rate: 8.73‰) occurred in infants born before 33 weeks of gestation. Hospital-acquired microorganisms: coagulase-negative Staphylococcus 115, Staphylococcus aureus 47, Escherichia coli 30, Candida spp. 16, Enterococcus faecalis 13, Klebsiella pneumoniae 11, and Streptococcus agalactiae 10. In re-admissions: E. coli 11, S. aureus 12, SGB 3, and Haemophilus influenzae 3. Conclusions. During the study period, the frequency of early-onset sepsis was similar to international reports, with a predominance of E. coli and L. monocytogenes. The rate of late-onset sepsis showed a downward trend in the analyzed years, with a predominance of Gram-positive cocci.

Guía práctica para el uso de clozapina en niños/as y adolescentes / Practical guidelines for the use of clozapine in children and adolescents

El uso de clozapina (CZP) en niños/as y adolescentes ha estado históricamente limitado, debido a los efectos adversos y riesgos médicos asociados al fármaco, a pesar de ser una herramienta farmacológica de gran efectividad en la psiquiatría general. A continuación, se presenta una guía clínica con los siguientes objetivos: 1) identificar los criterios de indicación de CZP en niños, niñas y adolescentes (NNA) según la evidencia disponible; 2) entregar algunas directrices a los clínicos y profesionales de salud respecto a la prescripción de CZP y precauciones a tener en consideración en esta población y; 3) entregar algunos datos comparativos del uso de CZP entre población infantojuvenil y población adulta. Todo lo anterior tiene como finalidad poder entregar la información necesaria para que los clínicos no limiten el uso de este fármaco y puedan prescribirlo de acuerdo con la evidencia científica disponible.

The use of clozapine (CZP) in children and adolescents has historically been limited due to the adverse effects and medical risks commonly associated with the drug, despite being a highly effective pharmacological tool in general psychiatry. Below we developed a clinical guideline with the following objectives: 1) identify the indication criteria for CZP in children and adolescents (NNA) according to the available evidence; 2) provide some guidelines to clinicians and health professionals regarding the prescription of CZP and precautions to be taken into account in this population and; 3) provide some comparative data on the use of CZP between the pediatric and adult population. The purpose of the guideline is to provide the necessary information so that clinicians do not limit the use of CLZ when needed and can prescribe it safely and according to the available scientific evidence.

Determination of the ideal timing of delivery among growth- restricted fetuses at less than 32 weeks age of gestation using a stage-based doppler protocol for admitted patients at the Philippine Children’s Medical Center

OBJECTIVES@#Early onset fetal growth restriction substantially contributes to neonatal mor-bidities and mortalities. The main dilemma lies on the timing of delivery, especially for pre- and peri-viable fetuses, due to the challenge in creating an ideal balance of minimized in-utero hy- poxia-induced fetal injury or death versus the risks of iatrogenic preterm delivery. We wished to determine the ideal timing of delivery among growth-restricted fetuses <32 weeks gestation us- ing a stage-based doppler protocol.@*MATERIALS AND METHODS@#A retrospective-cohort study of 67 singleton-pregnant wom- en with growth restriction at <32 weeks gestation and hospitalized from January 2010 to Sep- tember 2021 was conducted. Medical records were reviewed, and the outcomes were extracted. The primary outcomes were arterial pH at birth and mortality, while secondary outcomes includ- ed neonatal morbidities.@*RESULTS@#Fetal growth restriction progressed by an average of 3 stages (41.79%) within a 2- to 3.5-week period. More than half had arterial pH <7.20, which was lowest at Stage II FGR (50.00%). The prevalence of neonatal mortality was 16.42% and was lowest at Stage I (8.70%) and Stage II FGR (18.75%).@*CONCLUSION@#Doppler studies may be conducted weekly for Stage I, biweekly for Stage II, every 1-2 days for Stage III and every 12 hours for Stage IV. Delivery is ideal at Stage II as this resulted in the least number of acidosis and neonatal mortalities.

Research Progress of Congenital Scoliosis / 罕见病研究

Congenital scoliosis is an early-onset spinal deformity cauded by somitogenesis abnormalities. This disease is characterized by rapidly progressing in deformities, often accompanied by concurrent organ malformations. Current treatments include conservative treatment and surgical treatment. Various imaging technology-X-ray, CT, and MRI are used in the diagnosis of the disease. The majority of congential scoliosis deformities has a progressive nature so that close observation is vital and effective at the beginning. In cases of moderate congential scoliosis, non-invasive interventions, such as bracing and traction are effective. In surgery, factors such as age, growth potential and the specific location and type of deformity of individual patients are the basis for using such surgical procedures as epiphysiodesis, hemivertebra resection, growth-friendly techniques, and hybrid techniques in treatment. This paper makes a summery of the etiology pathogenesis, diagnosis and treatment of the congential scoliosis.

Perioperative Nursing of Early-Onset Scoliosis / 罕见病研究

Early-onset scoliosis(EOS) refers to scoliosis diagnosed under 10 years old, and early intervention should be carried out for progressive EOS. Surgery is one of the main treatments. Due to the physiological and psychological characteristics of children such as organ structure and function are still in the stage of growth and development, young age and poor compliance, perioperative nursing strategies are different from adults, this article focuses on 13 aspects, including admission and preoperative assessment, safety management, vital signs observation, neurological function monitoring, fluid and electrolyte balance, general anesthesia awakening delirium, pain management, nutrition management, tubing management, position and early mobilization, surgical site infection prevention, identification and treatment of hemopneumothorax, and discharge-related nursing.

The Performance of Graduation from Traditional Growing Rods with Apical Control Technique in Patients with Congenital Early-Onset Scoliosis / 罕见病研究

  Objective  Different from other etiologies of early-onset scoliosis (EOS), congenital early-onset scoliosis (CEOS) is mainly linked to vertebral anomalies, such as formation failures and segmentation failures at the apex segments. So far, there is little research on CEOS patients who have completed traditional growing rods (TGR) treatment, and the initial outcomes of TGR with or without apical control technique (ACT) are different. Therefore, we compared the "final" results of CEOS patients who completed TGR treatment with or without ACT.  Methods  We conducted a retrospective study of CEOS patients who completed TGR treatment from 2007—2020. They either had final fusion or were followed up after reaching skeletal maturity. We split the patients into two groups based on whether they had ACT with TGR or not. The ACT-TGR group had apical vertebrectomy/hemivertebrectomy with short fusion and TGR. The TGR-only group had only TGR. We looked at their demographic features, radiographic measurements, and complications.  Results  This study enrolled 46 CEOS patients, of which 13 patients were in the ACT-TGR group and 33 patients in the TGR group. The ACT-TGR group had a longer distraction interval (1.17 years vs. 0.75 years). The ACT-TGR group had a larger preoperative main curve [87.00(63.50, 98.00)], but the residual curve degrees were comparable between the two groups at the last follow-up (P=0.354). At the last follow-up, the T1-12 and T1-S1 heights were similar between the two groups. The ACT-TGR group had a lower number of implant-related complications per patient (0.77 vs. 1.48). Three patients in the ACT-TGR group underwent final fusion, while 17 patients in the TGR group underwent final fusion (P=0.060).  Conclusions  Both ACT-TGR and traditional TGR coud effectively correct deformity and preserve spinal growth in CEOS patients. ACT-TGR had a better corrective effect on patients with severe deformity and did not have a significant impact on spinal height. For patients with acceptable correction, spontaneous fusion and without implant failure, retaining the implant and continuing observation could be a strategy for graduating from growing rod treatment.

Analysis of 8 Cases of Blau Syndrome/Early-onset Sarcoidosis——Clinical Manifestations, Histopathology Features and Gene Mutation Diversity / 罕见病研究

  Objective  To summarize the clinical manifestations, pathological features and gene mutation diversity of Blau syndrome/early-onset sarcoidosis.  Methods  We collected general data, clinical manifestations, and auxiliary examination results from 8 patients who were diagnosed of Blau syndrome/early-onset sarcoidosis and treated in our hospital from January 2011 to December 2022, and then summarized and analyzed their characteristics and diversity.  Results  Among the 8 patients, 4 were males and 4 were females. The onset age was 3 to 8 months old. Rash was the first symptom in 7 patients(87.5%). 6 patients(75.0%) had papules and erythema.3 cases(37.5%) had arthritis. 2 cases(25.0%) had uveitis and other eye inflammation. 4 cases (50.0%) also showed intermittent fever. 3 cases (37.5%) showed symptoms in nerve and respiratory system, and hypertension respectively. The skin histopathology of 8 patients showed non-caseous granuloma formation. In laboratory detection, CRP and TNF-α were significantly increased before treatment, while IL-6, IL-8, TNF-α and IL-2 receptor(IL-2R) were significantly decreased in 5 patients after glucocorticoid therapy. The results of genetic testing showed that 4 of the 7 patients had p.R334W(c.1000C > T) mutation, 1 had p.H313R(c.938A > G) and p.R471C(c.1411C > T)double mutation, and 1 had p.476_477del (c.1427_1429delcct).  Conclusions  Blau syndrome/early-onset sarcoidosis has significant features in clinical manifestations, histopathology and gene mutation, but it also has diversity.

Lived experience and inner needs of patients with young-onset dementia: a qualitative Meta-synthesis / 中国实用护理杂志

Objective:To systematically evaluate the lived experience and inner needs of patients with young-onset dementia and to provide a basis for developing targeted interventions in clinical practice.Methods:Qualitative studies on the lived experience and inner needs of patients with young-onset dementia were retrieved from PubMed, Embase, Web of Science, Cochrane Library, PsycINFO, China National Knowledge Internet, VIP, Wanfang Database, and China Biology Medicine disc from the start to September 2022.Two investigators trained in evidence-based knowledge screened the literature inclusion and exclusion criteria independently and rigorously, and used an aggregative synthesis to integrate and categorize the results.Results:A total of 11 articles were included, 33 results were extracted. These results were clustered into 8 categories, and 3 integrated results were synthesized: patients faced difficulties and challenges in daily life, social activities and work,experienced severe psychological burden and stigma; there were differences in coping styles among patients with different emotional experiences, manifesting as avoidance, confrontation, and adoption of positive coping styles; patients had unmet needs in multiple dimensions such as poor communication between doctors and patients, lack of peer support, lack of age-appropriate services, and desired to obtain support from multiple sources.Conclusions:The community, hospital, and society should be fully connected to provide support for patients with young-onset dementia to reduce stigma, improve the diagnostic process, and encourage positive coping. More research is needed in the future to help healthcare professionals understand the experience and needs of patients with young-onset dementia, with the aim of improving the quality of life of patients.

Clinical characteristics of early-onset colorectal cancer / 中华消化外科杂志

Objective:To investigate the clinicopathological characteristics of early-onset colorectal cancer.Methods:The retrospective and descriptive study was conducted. The clincopatholo-gical data of 59 206 patients with colorectal cancer in the Surveillance, Epidemiology, and End Results Program of the United States of America From January 1,2010 to December 31,2019 were collected. There were 33 213 males, 25 993 males, aged (50±7)years. Observation indicators: (1) demographic and oncological characteristics of colorectal cancer patients; (2) comparison of clinico-pathological characteristics between early-onset and late-onset colorectal cancer. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was conducted using the t test. Measurement data with skewed distribution were represented as M( Q1, Q3), and comparison among groups was conducted using the Kruskal-Wallis H test. Count data were described as absolute numbers, and comparison among groups was conducted using the chi-square test. Comparison of ordinal data was conducted using the non-parameter H test. Patients with early-onset colorectal cancer were segmented by age, and missing data for categorical variables is set as unknown. Results:(1) Demographic and oncological characteristics of colorectal cancer patients. Of 59 206 patients, there were 23 104 cases with early-onset colorectal cancer and 36 102 cases with late-onset colorectal cancer, and cases aged 13-29 years, cases aged 30-34 years, cases aged 35-39 years, cases aged 40-44 years, cases aged 45-49 years, cases aged 55-59 years were 1 041, 1 740, 3 288, 6 050, 10 985, 15 303,20 799, respectively. (2) Comparison of clinicopathological charac-teristics between early-onset and late-onset colorectal cancer. ① There were significant differences in gender, tumor location, degree of tumor differentiation, tumor histological type, tumor TNM staging, tumor T staging, tumor N staging, tumor M staging, preoperative carcinoembryonic antigen (CEA), perineural invasion, cancer nodule, tumor diameter between patients with early-onset and late-onset colorectal cancer ( P<0.01). Results of further analysis showed that cases with tumor located in ileocecal region, ascending colon, colon liver region, transverse colon were 2 329, 2 139, 579, 1 303 in the 6 350 patients with early-onset right colon cancer. The above indicators were 4 563, 3 945, 902, 1 951 in the 11 361 patients with late-onset right colon cancer. There was a significant difference in the above indicators between the two groups of patients ( χ2=114.27, P<0.01). Cases with tumor located in splenic region of the colon, descending colon, sigmoid colon, rectum sigmoid junction were 553, 1 354, 6 404, 2 431 in the 10 742 patients with early-onset left colon cancer. The above indicators were 865, 1 798, 9 668, 3 610 in the 15 941 patients with late-onset left colon cancer. There was a significant difference in the above indicators between the two groups of patients ( χ2=35.60, P<0.01). ②Of 23 104 patients with early-onset colorectal cancer, cases aged 13-29 years, cases aged 30-34 years, cases aged 35-39 years, cases aged 40-44 years, cases aged 45-49 years were 1 041, 1 740, 3 288, 6 050, 10 985, respectively. There were significant differences in gender, degree of tumor differentiation, tumor histological type, tumor TNM staging, tumor T staging, tumor N staging, pre-operative CEA, perineural invasion, cancer nodule, tumor diameter among patients of different age groups ( P<0.01). Results of further analysis showed that cases with tumor located in ileocecal region, ascending colon, colon liver region, and transverse colon were 91, 117, 45, 69 in the 6 350 early-onset right colorectal cancer patients aged 13-29 years. The above indicators were 165, 136, 47, 115, 304, 313, 93,201, 614, 535, 151, 330, 1 155, 1 038, 243, 588 in early-onset right colorectal cancer patients aged 30-34, 35-39, 40-44, 45-49 years, respectively. There was a significant difference in the above indicators among the five groups of patients ( H=36.63, P<0.01). Cases with tumor located in splenic region of the colon, descending colon, sigmoid colon, rectum sigmoid junction were 32, 83, 260, 95 in the 10 742 early-onset left colorectal cancer patients aged 13-29 years. The above indica-tors were 53, 112, 452, 171, 95, 230, 867, 342, 149, 337, 1 702, 665, 224, 592, 3 123, 1 158 in the 10 742 early-onset left colorectal cancer patients aged 30-34, 35-39, 40-44, 45-49 years, respectively. There was a significant difference in the above indicators among the five groups of patients ( H=47.84, P<0.01). Conclusions:Compared with late-onset colorectal cancer, early-onset colorectal cancer are more likely to occur in the left colon and rectum, with poorly differentiated and undifferentiated tumors, histological type of mucinous adenocarcinoma, TNM staging of stage Ⅲ and Ⅳ, higher proportion of nerve infiltration and cancer nodules, and larger tumor diameter. There are significant differences in clinicopathological characteristics of tumors among patients with early-onset colorectal cancer of different age groups.

Relationship between serum matrix metalloproteinase-3 and cystatin C levels and pregnancy outcome in pregnant women with early-onset preeclampsia / 新乡医学院学报

Objective To investigate the predictive value of serum matrix metalloproteinase-3(MMP-3)and cystatin C(Cys C)levels and their combination for adverse pregnancy outcomes in patients with early-onset preeclampsia.Methods Thirty-one patients with early-onset preeclampsia admitted to the Department of Obstetrics in the First Affiliated Hospital of Bengbu Medical College from November 2021 to August 2022 were selected as the early-onset preeclampsia group,and 44 pregnant women with normal pregnancies who came to our hospital for labor and delivery during the same period were selected as the normal pregnancy group.Patients in the early-onset preeclampsia group were categorized into good pregnancy outcome group(n=13)and poor pregnancy outcome group(n=18)based on whether the pregnancy outcome was accompanied by a neonatal Apgar score of ≤ 7,intrauterine distress,fetal growth restriction,eclampsia seizures,and placental abruption.The levels of serum MMP-3 and cystatin C were detected by enzyme linked immunosorbent assay.The relationship between serum MMP-3,Cys C level and early-onset preeclampsia and pregnancy outcome were analyzed.The value of seurm MMP-3,cystatin C level and their combination in predicting adverse pregnancy outcomes in patients with early-onset preeclampsia were evaluated by using receiver operating characteristic.Results The levels of serum MMP3 and Cys C in the early-onset preeclampsia group were higher than those in the normal pregnancy group(P＜0.05).The levels of serum MMP-3 and Cys C in the poor pregnancy outcome group were higher than those in the good pregnancy outcome group(P＜0.05).The area unde the curve(AUC),sensitivity,specificity,Youden index of serum MMP-3 in predicting adverse pregnancy outcome in patients with early-onset preeclampsia were 0.885,83.3％,84.6％,0.679,respectively.The AUC,sensitivity,specificity,Youden index of serum Cys C in predicting adverse pregnancy outcome in patients with early-onset preeclampsia were 0.859,83.3％,76.9％,0.603,respectively.The AUC,sensitivity,specificity,Youden index of combined detection of serum MMP-3 and Cys C in predicting adverse pregnancy outcome in patients with early-onset preeclampsia were 0.923,72.2％,100％,0.722,respectively.Conclusion The serum MMP-3 and Cys C levels are overloaded in patients with early-onset preeclampsia,and the serum MMP-3 and serum Cys C levels are related to the pregnancy outcome of patients with early-onset preeclampsia.The combined detection of the two indexes can predict the adverse pregnancy outcome of early-onset preeclampsia to some extent.