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Precision medicine in inflammatory bowel disease

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Precision Clinical Medicine 2024年第1期7卷 54-80页

作者： Zhen Zeng Mingshan Jiang Xi Li Jing Yuan Hu Zhang Department of Gastroenterology West China HospitalSichuan UniversityChengdu 610041China Centrefor Inflammatory Bowel Disease West China HospitalSichuan UniversityChengdu 610041China Lab of Inflammatory Bowel Disease Frontiers Science Center for Disease-Related Molecular NetworkWest China HospitalSichuan UniversityChengdu 610041China general practice ward/international medical center ward General Practice Medical CenterWest China HospitalSichuan UniversityChengdu 610041China

Inflammatory bowel disease(IBD)is an incurable disease characterized by remission-relapse cycles throughout its *** Crohn's disease(CD)and ulcerative colitis(UC),the two main forms of IBD,exhibit tendency to develop complications and substantial heterogeneity in terms of frequency and severity of relapse,thus posing great challenges to the clinical management for *** treatment strategies are effective in different ways in induction and maintenance therapies for *** advances in studies of genetics,pharmacogenetics,proteomics and microbiome provide a strong driving force for identifying molecular markers of prognosis and treatment response,which should help clinicians manage IBD patients more effectively,and then,improve clinical outcomes and reduce treatment costs of *** this review,we summarize and discuss precision medicine in IBD,focusing on predictive markers of disease course and treatment response,and monitoring indices during therapeutic drug monitoring.

关键词： disease course inflammatory bowel disease precision treatment precision monitoring treatment response

Application of artificial intelligence in diagnosis of pulmonary tuberculosis

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Chinese medical Journal 2024年第5期137卷 559-561页

作者： Jingli Du Yue Su Juan Qiao Shang Gao Enjun Dong Ruilan Wang Yanhui Nie Jing Ji Zhendong Wang Jianqin Liang Wenping Gong Tuberculosis Control Team Senior Department of TuberculosisThe Eighth Medical Center of PLA General HospitalBeijing 100091China Department of Computer Science and Technology College of Management Science and EngineeringCapital University of Economics and BusinessBeijing 100071China The Second ward of Tuberculosis Department Senior Department of TuberculosisThe Eighth Medical Center of PLA General HospitalBeijing 100091China Beijing Key Laboratory of New Techniques of Tuberculosis Diagnosis and Treatment Senior Department of TuberculosisThe Eighth Medical Center of PLA General HospitalBeijing 100091China

Tuberculosis(TB)is an infectious disease caused by Mycobacterium *** the diagnostic technology of pulmonary tuberculosis(PTB)has advanced,accurate and differential diagnoses of PTB are still *** recent years,the rapid development of artificial intelligence(AI)and its wide application in the medical field have provided new opportunities for diagnosing and treating TB and *** machine learning model of AI has not only helped physicians improve diagnostic accuracy,but also enabled them to make early preventive diagnoses for individuals at increased risk of ***,AI can guide physicians to formulate targeted treatment strategies for PTB patients with different conditions.

关键词： tuberculosis diagnosis artificial

Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations:a single-center single-arm retrospective study

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World Journal of Pediatrics 2024年第5期20卷 517-524页

作者： Ying-Yan Wang Yun-Qing Zhou Li-Juan Luo Cui-Jin Wang Nan Shen Hao Li Ji-Wen Wang Department of Neurology Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina Department of Infectious Diseases Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina Clinical Research ward Clinical Research CenterShanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina

Background This retrospective study assessed the efficacy and safety of ketogenic diet therapies in children with epilepsy caused by SLC2A1 genetic mutations and glucose transporter type 1 deficiency *** Pediatric patients with epilepsy symptoms admitted to our medical center between January 2017 and October 2021 were included if they presented with an SLC2A1 genetic mutation on whole-exome *** analyzed the patients’convulsions and treatment with antiepileptic *** patients were followed up at different time periods after ketogenic diet *** Six patients with SLC2A1 mutations were included in this *** patients had seizures of different types and frequencies,and they took antiepileptic drugs to relieve their *** were then treated with a ketogenic diet for at least four *** analyzed epilepsy control rates at 1,2,3,6,and 12 months after ketogenic diet *** patients were seizure-free within a month of receiving the diet *** patients were followed up for six months,three were followed up for 12 months after the treatment,and there was no recurrence of epilepsy during this *** antiepileptic drug withdrawal,none of the patients experienced seizure relapse when receiving ketogenic diet treatment *** severe adverse events occurred during the *** Ketogenic diet therapy is very effective and safe for the treatment of epilepsy caused by SLC2A1 ***,patients with glucose transporter type 1 deficiency syndrome caused by SLC2A1 mutations should begin ketogenic diet treatment as soon as possible.

关键词： Epilepsy Glucose transporter type 1 Ketogenic diet SLC2A1

Juvenile Systemic Sclerosis: About 9 Cases

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Open Journal of Pediatrics 2024年第2期14卷 320-326页

作者： Kaoutar Danaoui Houda Nassih Khadija Oujennane Rabiy El Qadiry Aicha Bourrahouat Said Amal Imane Ait Sab B Pediatric ward Mohammed VI University Hospital Center Marrakesh Morocco Dermatology ward Mohammed VI University Hospital Center Marrakesh Morocco

Scleroderma is a rare disease with two primary forms: localized scleroderma (LS) and systemic sclerosis (SSc). Both are chronic conditions that can manifest in various patterns (subtypes) and are linked to extracutaneous involvement in pediatric patients. Juvenile SSc poses a higher risk of morbidity and mortality, with patients facing life-threatening complications such as lung, heart, and visceral organ fibrosis, and vasculopathy. In contrast, mortality is extremely rare in juvenile LS, but patients are susceptible to significant morbidity, leading to severe disfigurement and functional impairment. Treatment for scleroderma aims to control inflammation and address specific issues. An early diagnosis significantly enhances the overall outcome. This study conducts a retrospective descriptive analysis aiming to document the clinical manifestations, management approaches, and outcomes of systemic sclerosis in a cohort of nine children receiving treatment for juvenile systemic sclerosis at Pediatric B department of Mohammed VI University, Hospital center in Marrakech, Morocco.

关键词： Scleroderma Systemic Sclerosis Children Pediatric

Relationship between plasma risperidone concentrations and clinical features in chronic schizophrenic patients in China

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World Journal of Psychiatry 2024年第4期14卷 523-532页

作者： Jing-Wen Xu Xiao-Bo Guan Xue-Ying Wang Yang Feng Qi Zhang Jun-Juan Zhu Jian-Hua Chen Department of Medicine Shanghai No.3 Mental Health Center of Civil AdministrationShanghai 200435China The Fourth Sick ward Shanghai No.3 Mental Health Center of Civil AdministrationShanghai 200435China Shanghai Mental Health center Shanghai Jiao Tong University School of MedicineShanghai Key Laboratory of Psychotic DisordersShanghai 200030China The First Sick ward Shanghai No.3 Mental Health Center of Civil AdministrationShanghai 200435China

BACKGROUND Prior studies have noted great variability in the plasma levels of risperidone(RIS).Plasma concentrations of RIS and its active moiety are highly variable and depend on absorption,metabolism,and other predictors of metabolic dysregulation;however,these factors are poorly understood and the association between metabolic change and change in psychopathology is *** To ascertain the characteristics of chronic schizophrenic patients treated with RIS,and to assess their relationship with plasma RIS *** This was a descriptive cross-sectional study of 50 patients with a diagnosis of schizophrenic psychosis treated with RIS in a psychiatric *** plasma concentrations of RIS and its metabolite 9-hydroxyrisperidone were determined by high performance liquid *** patients’demographic and clinical characteristics,and psychopathologies were assessed,and the associations between clinical variables and plasma levels of RIS were *** Male patients received higher doses of RIS than female ones,but plasma concentrations of RIS and risperidone+9-hydroxyrisperidone(active moiety)were higher in female *** and the mean scores of the general psychopathology subscale of the Positive and Negative Syndrome Scale(PANSS)were significantly positively correlated with plasma concentrations of risperidone+9-hydroxyrisperidone adjusted for weight and dose in all 50 *** male subjects,we found a statistically significant positive correlation between the concentrations of risperidone+9-hydroxyrisperidone in plasma/(dose×kg)and age,mean PANSS negative subscale scores,mean PANSS general psychopathology subscale scores,and mean PANSS total *** Long-term use of RIS should be closely monitored in older patients and females to minimize the risk of high concentrations which could induce side effects.

关键词： Antipsychotics Risperidone 9-hydroxyrisperidone Plasma drug concentration monitoring Chronic schizophrenia

Epidemiology of insertional and midportion Achilles tendinopathy in runners:A prospective cohort study

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Journal of Sport and Health Science 2024年第2期13卷 256-263页

作者： Wenbo Chen Kyra L.A.Cloosterman Sita M.A.Bierma-Zeinstra Marienke van Middelkoop Robert-Jan de Vos Department of Orthopaedic Surgery and Sports Medicine Erasmus MC University Medical CenterRotterdam 3015GDthe Netherlands Department of general practice Erasmus MC University Medical CenterRotterdam 3015GDthe Netherlands Department of Sports Medicine Huashan HospitalFudan UniversityShanghai 200040China

Background:Achilles tendinopathy(AT)is a common problem among *** is only limited evidence for risk factors for AT,and most studies have not defined the AT *** study has compared the incidence and risk factors between insertional AT and midportion AT,though they are considered *** study aimed to assess incidence and risk factors of AT based on data from a large prospective *** secondary aim was to explore differences in risk factors between insertional and midportion ***:Participants were recruited from among registered runners at registration for running *** were completed at baseline,1 month before the event,1 week before the event,and 1 month after the *** concerning demographics,training load,registered events,and running-related injuries were collected at *** follow-up questionnaires collected information about new injuries.A pain map was used to diagnose midportion and insertional *** primary outcome was the incidence of *** logistic regression analysis was applied to identify risk factors for the ***:We included 3379 participants with a mean follow-up of 20.4 *** incidence of AT was 4.2%.The proportion of insertional AT was 27.7%and of midportion AT was 63.8%;the remaining proportion was a combined type of insertional and midportion *** had a significantly higher incidence(5%,95%confidence interval(95%CI):4.1%-6.0%)than women(2.8%,95%CI:2.0%-3.8%).AT in the past12 months was the most predominant risk factor for new-onset AT(odds ratio(OR)=6.47,95%CI:4.27-9.81).This was similar for both subcategories of AT(insertional:OR=5.45,95%CI:2.51-11.81;midportion:OR=6.96,95%CI:4.24-11.40).Participants registering for an event with a distance of 10/10.55 km were less likely to develop a new-onset AT(OR=0.59,95%CI:0.36-0.97)or midportion AT(OR=0.47,95%CI:0.23-0.93).Higher age had a significant negative association with insertional AT(OR=0.97,95%CI:0.9

关键词： Achilles tendon injury Incidence Risk factor Running-related injury

Morbidity and Mortality Related to Infectious Diseases in the Roi Boudouin Paediatric ward in Senegal

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Open Journal of Pediatrics 2024年第4期14卷 727-737页

作者： Guillaye Diagne Aliou Abdoulaye Ndongo Djeneba Fafa Cissé Sidy Lamine Mbaye Jean Baptiste Niokhor Diouf Fatou Ly Pediatrics ward of Pikine Hospital Pikine Sngal Pediatrics ward of Roi Boudouin Hospital Dakar Sngal

Introduction: Infant and child morbidity and mortality linked to infections remain a major concern in both developed and developing countries. The general objective was to determine the characteristics of hospital morbidity and mortality linked to infectious pathologies in the pediatric department of the King Baudouin hospital center in Dakar. Methods: This was a retrospective, descriptive and analytical study focusing on children hospitalized from January 1, 2018 to December 31, 2021 in the pediatric department of the King Baudouin hospital center in Dakar. Results: During the study period, 1474 children were hospitalized for an infectious pathology in the pediatric department. The sex ratio was 1.48. Children aged between one and twelve months represented 34.12%. Morbidity due to respiratory and digestive infections was 42.33% and 33.45%, respectively. Pediatric hospital mortality was 0.75% with a predominance noted in infants between 1 and 12 months (55.86%). Respiratory, digestive infections, sepsis and neurological infections were the main causes of death. Factors associated with mortality were age (1 to 12 months) with p Conclusion: Reducing infant and child mortality linked to infectious diseases remains a crucial challenge to address for improving children’s health. Early detection of related signs, prevention of infections, and adequate care and monitoring of infants and children can contribute to this reduction.

关键词： Morbidity Mortality Infections Children

Infantile Spinal Muscular Atrophy at the Albert Royer National Children’s Hospital center in Dakar

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Open Journal of Pediatrics 2024年第3期14卷 514-521页

作者： Guillaye Diagne Khadim Bop Sofiatou Dieye Arame Faye Fatou Ly Amadou Lamine Fall Pediatrics ward of Pikine Hospital Pikine Senegal Pé diatrics Ward of Albert Royer National Hospital Dakar Senegal

Introduction: Infantile spinal muscular atrophy (ISA) is an autosomal recessive disease caused by primary degeneration of cells in the anterior horn of the spinal cord, leading to muscle weakness and hypotonia. Its incidence is estimated at 1 in 6000 births worldwide. In Africa, particularly in Senegal, there are few studies interested on this pathology. We therefore deemed this study necessary, which set itself the objective of describing the diagnostic, therapeutic and progressive aspects of infantile spinal muscular atrophy at the Albert Royer National Children’s Hospital center in Dakar (CHNEAR). Methodology: We conducted a retrospective descriptive study over a period of two (2) years from December 2020 to December 2022. Included were all hospitalized patients in whom the diagnosis of spinal muscular atrophy was made with or without genetic confirmation. The data were collected on a pre-established form then entered and analyzed with the following software: Excel 2013 and R version 4.1.3. Results: During our study period, 2100 children were hospitalized, the annual incidence was 0.76%. The average age of our patients was 9 ± 9 months with a range of 3 months to 32 months and the median was 6.5 months. The sex ratio was 7. The notion of family consanguinity was found in 62.5% of cases and the notion of ISA in the family in 25% of cases. Hypotonia and respiratory distress were found at the forefront in equal proportions (50% of cases). Electromyogram (EMG) was performed in 3 patients (37.5%). Symptomatic medical treatment was administered in 100% of patients, 04 patients had benefited from respiratory physiotherapy, i.e. 50% of cases, and genetic counseling was carried out in one patient (12.5%). The evolution was immediately favorable in 2 patients or 25% of cases, unfavorable in 75% of cases with a death rate of 50% and the average age of death was 5.5 months ± 1 with extremes ranging from 3 to 7 months. Conclusion: The number of Infantile spinal muscular atrop

关键词： Spinal Muscular Atrophy Child Hypotonia Dakar

Duphaston as a suitable medication for women taking intracytoplasmic sperm injection to treat infertility

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Reproductive and Developmental Medicine 2024年第2期8卷 89-92页

作者： Leila Naserpour Katayon Berjis Sanaz Soleymani Moud Rahil Jannatifar Department of Reproductive Biology Academic Center for EducationCultureand Research(ACECR)Qom BranchQomIran Infertility Treatment center Academic Center for EducationCultureand Research(ACECR)Qom BranchQomIran Cellular and Molecular Research center Qom University of Medical SciencesQomIran Midwifery ward Infertility Treatment CenterAcademic Center for EducationCultureand Research(ACECR)Qom BranchQomIran

Objective:Duphaston is used as an alternative to gonadotropin-releasing hormone(GnRH)antagonists for suppressing premature luteinizing hormone(LH)*** study aimed to compare the efficacy of Duphaston protocols with that of Cetrotide in suppressing the LH ***:In this retrospective cross-sectional study,669 infertile women(aged 25-40 years)were administered recombinant follicle-stimulating hormone(rFSH)from the third day of their menstrual *** the follicular diameter reached 13 to 14 mm,Cetrotide was prescribed orally to the control subjects,also case subjects took Duphaston *** retrieved oocytes were fertilized by an intracytoplasmic sperm injection(ICSI).Results:The levels of FSH,LH,and estradiol did not differ significantly between the groups(P>0.05).However,the findings indicated that Duphaston led to greater oocyte retrieval than Cetrotide(P=0.006).However,the number of mature oocytes and viable embryos in the case subjects did not reach a significant difference compared to that in the control subjects(P>0.05).The number of good-quality embryos(stage 1)was significantly higher in the case subjects(P=0.04).In addition,there is no significant difference in the chemical,clinical pregnancy,implantation rate,and miscarriage rate between both groups(P>0.05).Conclusion:Duphaston could be utilized as a suitable medication rather than a GnRH antagonist in women subjected to controlled ovarian hyperstimulation.

关键词： Duphaston Cetrotide Progesterone protocol Ovarian hyperstimulation GnRH antagonist