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.

Clinical observation of early-onset antinuclear antibody-positive juvenile idiopathic arthritis / 中华微生物学和免疫学杂志

Objective:To investigate the clinical features, treatment and follow-up of children with early-onset antinuclear antibody (ANA)-positive juvenile idiopathic arthritis (JIA).Methods:Eighty-six oligoarticular JIA patients with early-onset arthritis (≤6 years old) admitted to the Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2017 to December 2019 were included in this study. According to ANA titer, these patients were divided into two groups: ANA-positive group (44 cases) and ANA-negative group (42 cases). Clinical data including demographic data, clinical features, laboratory testing results, treatment and follow-up data were statistically analyzed.Results:The ratio of male to female was 7∶37 in the ANA-positive group and 15∶27 in the ANA-negative group and there was significant difference between the two groups ( P=0.035). The proportions of patients with increased C-reactive protein and erythrocyte sedimentation rate were higher in the ANA-positive group than in the ANA-negative group [18.18% (8/44) vs 16.67% (7/42) and 29.55% (13/44) vs 19.05% (8/42), both P>0.05]. The most commonly involved joints in the ANA-positive group were knee (95.45%, 42/44), ankle (20.45%, 9/44) and wrist (18.18%, 8/44), and unilateral asymmetric joint involvement accounted for 81.8% (36/44). In the ANA-negative group, the involved joints were knee (85.71%, 36/42), ankle (14.29%, 6/42), wrist (14.29%, 6/42) and hip (11.90%, 5/42), and 27 out of the 42 cases (64.29%) had unilateral asymmetric joint involvement. There was no significant difference in the above indexes between the two groups (all P>0.05). There were seven cases (15.91%) with uveitis in the ANA-positive group and two cases (4.76%) in the ANA-negative group, and the difference between the two groups was significant ( P=0.045). Before treatment, the ANA-positive group had a significantly higher disease activity score (JADAS27) than the ANA-negative group (14.43±2.87 vs 12.09±3.32, P=0.002). After treatment, the JADAS27 score in both groups decreased (both P<0.05). After six months of treatment, the two groups had similar clinical remission rates [70.45% (31/44) vs 76.19% (32/42), P>0.05]. Conclusions:Early-onset ANA-positive JIA was more common in female children, and asymmetric knee joint involvement was the most common clinical manifestation. The incidence of ophthalmic complications was high, and ophthalmological examination should be performed more frequently during follow-up. The prognosis of early-onset ANA-positive JIA was good with early treatment. Positive ANA was not a risk factor for poor prognosis.

A case of Liddle syndrome and review of literature / 中华内分泌代谢杂志

The clinical data, laboratory test, and gene mutations were collected from a family with Liddle syndrome. Literatures on Liddle syndrome published in domestic and abroad since 1994 were reviewed and the types of gene mutations were summarized. The proband was diagnosed with hypertension at the age of 24. Laboratory test showed that serum potassium was 3.65 mmol/L, plasma renin was <0.5 mU/L, and plasma aldosterone was 1.5 ng/dL. Proband′s father was diagnosed with hypertension at the age of 34 with the serum potassium 3.34 mmol/L, plasma renin 3.72 mU/L, and plasma aldosterone 6.04 ng/dL. A nonsense mutation(1724G>A, p.Trp575*) in exon 13 of SCNN1G gene was detected in the proband and his father. In 288 cases from 107 families reported in the review of domestic and foreign literature, the incidence of hypertension, hypokalemia, and low renin/low aldosterone were 95.1%, 55.2%, and 49.6%, respectively. This case suggests that the clinical phenotype of Liddle syndrome is heterogeneous. Patients with early-onset hypertension, regardless of whether they are accompanied by hypokalemia, should be screened for renin-angiotensin-aldosterone and genetic testing related to Liddle syndrome should be further detected in patients with low plasma renin/aldosterone.

Differences of resting-state brain functional connectivity in patients with early-onset and late-onset obsessive compulsive disorder and their correlation with cognitive flexibility / 中华行为医学与脑科学杂志

Objective:To explore the differences of the resting-state functional connectivity(FC) between goal-directed network and habituation networks in patients with early- and late-onset obsessive compulsive disorder (OCD) and the correlation between the strength of FC in the differential brain regions and cognitive flexibility.Methods:From October 2019 to April 2021, 40 patients with OCD were included in this study, including 22 patients with early-onset OCD and 18 patients with late-onset OCD.The cognitive flexibility of all subjects was assessed using the Wisconsin card sorting test (WCST), the Stroop task and the trail making test (TMT). The brain regions which were associated with goal-directed network(caudate, orbitofrontal cortex, ventromedial prefrontal cortex, and anterior cingulate cortex) and the brain regions which were associated with habituation network(putamen, supplementary motor area and insula) were selected as FC regions of interest (ROI). The DPABI and SPM12 plug-ins in the matlab2011a platform were used for whole brain FC analysis to compare the difference of FC between patients with early-onset OCD and patients with late-onset OCD on the two networks.The data were analyzed by SPSS 25.0 with χ2 test, independent samples t-test, and Pearson correlation analysis. Results:Compared with patients with early-onset OCD, patients with late-onset OCD had significantly enhanced FC of the left supplementary motor area with the left putamen and left insula.The total number of persistent errors of WCST in patients with late-onset OCD was greater than that in patients with early-onset OCD ((20.61±11.30), (14.95±8.94), P<0.05). The FC of the left putamen-left supplementary motor area was significantly and positively correlated with the total number of sustained responses ( r=0.678, P=0.003) and the total number of incorrect responses ( r=0.590, P=0.013) in patients with late-onset OCD.The FC of the left supplementary motor area-left insula was significantly positively correlated with the number of responses required to complete the first classification in patients with late-onset OCD ( r=0.485, P=0.049). Conclusion:Patients with late-onset OCD have stronger habituation network FC than patients with early-onset OCD, and the enhanced FC correlates with patients' cognitive flexibility performance, while late-onset OCD has more impaired cognitive flexibility than early-onset OCD.

Genotypes and phenotypes of hereditary eye diseases associated with early-onset high myopia / 中华实验眼科杂志

Objective:To analyze the genotype of hereditary eye diseases with early-onset high myopia (eoHM) and its relationship with phenotype.Methods:The families with eoHM were collected in Ningxia Eye Hospital from January 2019 to June 2020.The medical records of the probands and their family members were inquired and recorded in detail, and the relevant ocular examinations were performed.Peripheral venous blood samples were collected from patients and their family members, and whole-genome DNA was extracted.Sequence capture sequencing technology was applied to screen for disease-causing gene mutations in probands.The detected suspected pathogenic variants were verified by Sanger sequencing and were analyzed by family cosegregation analysis.According to ACMG guidelines, the pathogenicity of novel variants was evaluated.The original literature about hereditary eye diseases with eoHM was searched to analyze the relationship between mutated genes and clinical phenotype.This study protocol adhered to the Declaration of Helsinki.All subjects or their guardians were informed of the purpose and procedure of the study and signed the informed consent form.The study protocol was approved by the Ethics Committee of the People's Hospital of Ningxia Hui Autonomous Region (No.2016018).Results:A total of 20 eoHM families were collected, among which pathogenic variants associated with inherited eye diseases were detected in 8 families.Of the 8 probands, two were diagnosed with familial exudative vitreoretinopathy, one with X-linked retinitis pigmentosa, one with congenital stationary nightblindness, one with Stickler syndrome, one with achromatopsia, one with Leber congenital amaurosis, and one with gyrate atrophy of the choroid and retina.The first diagnosis age of the 8 probands was 4-7 years old, and they were all diagnosed as high myopia, with a refractive status ≤-6.00 DS.Genetic tests showed that the 8 probands carried a heterozygous variant c. 313A>G (p.M105Val) in FZD4 gene, a heterozygous variant c. 14_15insAAGA (p.Asp5fs *) in TSPAN12 gene, a heterozygous frameshift variant c. 2234_2237del (p.Arg745fs) in RPGR gene, a compound heterozygous variant of c. 481C>T (p.Gln161Ter *) and c. 355>T (p.Arg119Cys *) in GPR179 gene, a frameshift variant c. 1659_1660insACGGTGACCCTGGCCGTCCTGG (p.Pro554fs *) in COL2A1 gene, a compound heterozygous variant of c. 1811C>T (p.Thr604Ile *) and c. 967G>A (p.Gly323Ser) in PDE6B gene, a compound heterozygous variant of c. 604_619delTCCACGGCACTCAGGG (p.Ser202fs *) and c. 995G>C (p.Arg332Pro) in GUCY2D gene, a homozygous variant c. 772C>T (p.Pro241Leu) in OAT gene.Seven of them were novel variants.Compared with the previous literature, the clinical and gene phenotypes of the 8 families were analyzed in detail in this study, which provided the basis for the diagnosis of hereditary eye diseases with eoHM. Conclusions:EoHM is closely related to some hereditary eye diseases, which may be the reason for the early diagnosis of children and an important clue for clinicians to detect potential hereditary eye diseases.Further clinical evaluations of ocular structure and function as well as genetic screening in children with eoHM are recommended.

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.

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.

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.

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.

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.

Early Onset Pulmonary Events and Management Strategies during the Treatment of ALK Positive NSCLC Patients with Brigatinib / 中国肺癌杂志

Anaplastic lymphoma kinase (ALK) is a receptor tyrosine kinase and its rearrangements occur in non-small cell lung cancer (NSCLC), resulting in signal dysregulation in kinase domain. As a new generation of potent ALK tyrosine kinase inhibitors (TKIs), Brigatinib was approved in China in March 2022 as a treatment for locally advanced or metastatic NSCLC patients with ALK rearrangement positive. Brigatinib significantly improved the survival, cranial efficacy and quality of life compared to Crizotinib in clinical trials. Brigatinib is generally well tolerated. Brigatinib has been one of the preferred treatments and an addition of options in ALK-rearranged NSCLC. Pulmonary toxicity is one of the adverse effects observed during the treatment of TKIs and deserves the intense attention of clinicians, despite of its low incidence rate. Pulmonary toxicity reported during the treatment of Brigatinib has shown distinct clinical presentations, such as early-onset (median time to onset, 2 days) and rapid tolerance and reversibility of symptoms. In view of this, the concept of early-onset pulmonary events (EOPEs) was proposed and established during the submission for regulatory review and approval. We focused on clinical characteristics, potential mechanism of etiology, and management strategies of EOPEs to provide clinicians evidence for better clinical decision support.
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Experience of ZHANG Boli in Staged Treating Very Early Onset Inflammatory Bowel Disease Based on the Theory of “Similar Diseases and Syndromes of Damp-Turbidity-Phlegm-Rheum” / 中医杂志

This article summarizes the experience of Professor ZHANG Boli in the staged treatment of very early onset inflammatory bowel disease （VEO-IBD）. Grounded in the theory of “similar diseases and syndromes of damp-turbidity-phlegm-rheum”， it is believed that dampness and turbidity are crucial pathogenic factors in VEO-IBD. During the acute phase， the core pathogenesis centers on the accumulation of turbid toxins in the intestines. The treatment focuses on dispelling dampness and clearing turbidity to eliminate turbid toxins， while also regulating the flow of qi and nourishing the spleen and kidney. During the remission phase， the core pathogenesis involves spleen and kidney deficiency， which is treated by invigorating the spleen and warming the kidney to strengthen the body resistance. Additionally， promoting blood circulation and eliminating stasis is integrated throughout the treatment process. Medications are chosen to be mild and gentle， emphasizing balance and harmony， and attention is given to the methods of administration and psychological well-being， ensuring comprehensive care for both body and mind.

Clinical characteristics and influencing factors of onset age in inpatients with early- and late-onset obsessive-compulsive disorder inpatients / 四川精神卫生

BackgroundThe obsessive-compulsive disorder （OCD） features complexity in etiological factors and high heterogeneity in clinical manifestations. OCD patients with different ages of onset vary in clinical symptoms and etiology. However， current studies on inpatients with early- and late-onset OCD are limited. ObjectiveTo explore the differences in clinical characteristics between early- and late-onset OCD inpatients as well as the factors affecting the onset age of OCD， so as to provide references for early screening and treatment of OCD patients. MethodsThis study was based on collected medical records of 540 patients with OCD who received inpatient treatments at the Affiliated Brain Hospital of Nanjing Medical University between March 2012 and March 2023. Patients with onset age above 18 were placed into early-onset group （n=310） and the others into late-onset group （n=230）. Then differences in demographic data and clinical symptoms between two groups of patients were compared. Binary logistic regression was used to analyze the factors that affect the onset age of OCD. ResultsObserving the demographic data， there were significant differences between the two groups in the results in gender， marital status， family history of mental illness， ratio of comorbidities with other mental illnesses， occupational composition， education level and types of obsessive-compulsive symptoms （χ2=22.302、170.556， 9.224， 13.624， 242.277， 59.791， 7.231， P<0.05 or 0.01）. Also， the results in ages of onset and hospitalization between two groups were significantly different （Z=-19.915， 16.831， P<0.01）. In terms of clinical symptoms， the early onset group had a higher proportion of symptoms including obsessive thinking （χ2=11.998， P<0.05）， ordering （χ2=7.731， P<0.05） and rituals （χ2=7.714， P<0.05）， while the proportion of obsessive checking （χ2=8.204， P<0.05） and washing （χ2=7.506， P<0.05） symptoms were relatively low. In terms of risk factors， there were several independent risk factors that influence the onset age of OCD inpatients， including comorbid neurodevelopmental disorder， comorbid affective disorder， family history of schizophrenia and family history of affective disorder （OR=19.587， 1.830， 3.065， 4.431， P<0.05）. Among them， comorbid neurodevelopmental disorder was the core influencing factor， and female gender was a protective factor for early-onset patients （OR=0.417， P<0.01）. ConclusionThere are differences in demographic data and clinical symptom characteristics between early- and late-onset OCD inpatients， and comorbid neurodevelopmental disorder plays as a core risk factor affecting the onset age of OCD inpatients. ［Funded by Jiangsu Province Key Research and Development Plan for Social Development Special Project（number， BE2021616） ； Jiangsu Province Social Development General Project （number， BE2022678）； Key Project of Nanjing Medical Science and Technology Development Fund （number， ZKX20029）］

When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?

ABSTRACT Objetivo: Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2 diabetes(T2DM). The aim of this study is to evaluate MODY mutations in adult T2DM patients suspicious in terms of MODY, and to show clinical and laboratory differences between these two situations. Subjects and methods: In this study, we analyzed 72 type 2 diabetic patients and their relatives (35F/37M) who had been suspected for MODY and referred to genetic department for mutation analysis. The gene mutations for MODY have been assessed in the laboratory of Marmara University genetics. Totally 67 (32F/35M; median age 36.1) diabetic patients were analyzed for 7 MODY mutations. Twelve patients who have uncertain mutation (VUS) were excluded from study for further evaluation. MODY(+) (n:30) patients and T2DM patients (n:25) were compared for clinical and laboratory parameters. Results: In MODY(+) subjects, mutations in GCK (MODY 2) (n:12; 40%) were the most common followed by HNF4A (MODY 1) (n:4; 13.3%). Diabetes diagnosis age was younger in MODY(+) group but not statistically significant. Sixty-six percent of MODY(+) subjects had diabetes history at 3-consecutive generations in their family compared with 28% of T2DM patients statistically significant (p:0.006). Gender, BMI, C-peptide, HbA1c, lipid parameters, creatinine, GFR, microalbuminuria, vitamin D and calcium were not statistically different between the groups. Conclusion: According to present study results, MODY mutation positivity is most probable in young autoantibody (-) diabetic patients diagnosed before 30 years of age, who have first degree family history of diabetes.

A cross-sectional study of early-onset epilepsy of intracerebral hemorrhage and construction of a risk prediction model / 中华危重病急救医学

Objective:To study the early-onset epilepsy of intracerebral hemorrhage and build a prediction model to evaluate its prediction efficiency.Methods:A cross-sectional investigation was conducted to construct a specialized optimized prediction model. The prediction model was converted into a visual optimized scoring scale, so as to quantify the probability of secondary epilepsy after intracerebral hemorrhage. Based on the current prediction model of acute cerebral infraction and post-stroke seizure (AIS-PSS), the evaluation efficacy of optimized score for secondary epilepsy after hemorrhagic stroke was explored.Results:① After sample size calculation and sufficient inclusion and exclusion, 159 patients with cerebral hemorrhage were continuously selected as the model group of this cross-sectional study. A total of 29 patients with early-onset epilepsy and 130 patients without secondary epilepsy were enrolled. The time span was from January 2021 to August 2021. In addition, 77 patients with acute cerebral hemorrhage from August 2021 to February 2022 were selected as the verification group, among which 12 patients had early-onset epilepsy and 65 patients had not any secondary epilepsy. ② There were significant differences in demographic characteristics such as diabetes history, cerebral infarction history, smoking history, National Institutes of Health Stroke Scale (NIHSS) score, intracerebral hemorrhage hematoma volume, serum creatinine (SCr), neuron-specific enolase (NSE), S-100 protein and intracerebral hemorrhage site between the two model groups with different prognosis (all P < 0.05). ③ The above indexes were included in univariate and multivariate Poisson regression analysis, and the results showed that the duration of diabetes [relative risk ( RR) = 1.229, 95% confidence interval (95% CI) was 1.065-1.896, P = 0.036], smoking history ( RR = 1.419, 95% CI was 1.133-2.160, P = 0.030), history of cerebral infarction ( RR = 1.634, 95% CI was 1.128-2.548, P = 0.041), hematoma volume of cerebral hemorrhage ( RR = 1.222, 95% CI was 1.024-2.052, P = 0.041), NES content ( RR = 1.146, 95% CI was 1.041-1.704, P = 0.032), were independent influencing factors to constitute the prediction model. The prediction model was converted into a visual optimized scoring scale in the form of a line diagram to obtain the prediction probability corresponding to the corresponding score. ④ Receiver operator characteristic curve (ROC curve) was used to test the evaluation efficiency of optimized score and AIS-PSS score for early-onset cerebral hemorrhage epilepsy. Relevant data of patients in the verification group were extracted according to the information of two scores, and the final score of each patient in the verification group was obtained. The score and prognosis were put into the ROC curve to evaluate the predictive ability of different prediction models. The results showed that the cut-off value of the optimized score and the AIS-PSS score were 144 points and 7 points, respectively, and the area under the ROC curve (AUC) and the Yoden index of the optimized score were slightly lower than the AIS-PSS score. However, compared with AIS-PSS score, there was no significant difference in the evaluation efficiency of optimized score for early-onset epilepsy ( Z = 1.874, P > 0.05). Conclusion:This study constructed a specific early-onset epilepsy prediction model for patients with hemorrhagic stroke, and transformed it into an optimized score that is easy for clinical use, and its evaluation efficiency is reliable.