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Function and dysfunction of GEMIN5:understanding a novel neurodevelopmental disorder

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Neural Regeneration Research 2024年第11期19卷 2377-2386页

作者： Charles H.Nelson Udai B.Pandey Department of pediatrics Division of Child NeurologyChildren’s Hospital of PittsburghUniversity of Pittsburgh Medical CenterPittsburghPAUSA Children’s neuroscience Institute Children’s Hospital of PittsburghUniversity of Pittsburgh Medical CenterPittsburghPAUSA

The recent identification of a neurodevelopmental disorder with cerebellar atrophy and motor dysfunction(NEDCAM)has resulted in an increased interest in GEMIN5,a multifunction RNA-binding *** the largest member of the survival motor neuron complex,GEMIN5 plays a key role in the biogenesis of small nuclear ribonucleoproteins while also exhibiting translational regulatory functions as an independent *** many questions remain regarding both the pathogenesis and pathophysiology of this new disorder,considerable progress has been made in the brief time since its *** this review,we examine GEMIN5 within the context of NEDCAM,focusing on the structure,function,and expression of the protein specifically in regard to the disorder ***,we explore the current animal models of NEDCAM,as well as potential molecular pathways for treatment and future directions of *** review provides a comprehensive overview of recent advances in our understanding of this unique member of the survival motor neuron complex.

关键词： cerebellar atrophy GEMIN5 neurodevelopmental disorder neurological disease SMN complex

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Respiratory complications of propofol, sevoflurane, and dexmedetomidine anesthesia for fiberoptic bronchoscopy in children aged 1 month to 3 years: a randomized trial

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南方医科大学学报 2024年

作者： Amir Shafa Mohammad Montasery Sedighe Shahhosseini Majid Keivanfar Asieh Maghami Mehr Mahtab Ebrahim Babaei Mohammad Jafari Department of Anesthesiology Anesthesiology and Critical Care Research Center Department of pediatrics Isfahan University of Medical Sciences Department of Statistics Yazd University departments of Obstetrics and Gynecology Shahrekord University of Medical Sciences

Objective To evaluate the effect of propofol, sevoflurane, and dexmedetomidine on respiratory complications in children undergoing fiberoptic bronchoscopy(FOB). Methods This double-blind randomized clinical trial was conducted among 120 children aged 1 month to 3 years undergoing FOB. The patients were randomized into 3 groups(n=40) for anesthesia induction with sevoflurane inhalation, 1 mg/kg propofol, or 1 μg/kg dexmedetomidine before bronchoscopy, and the changes in hemodynamic parameters, sedation level, and respiratory complications during and after the procedure were assessed. Results The patients' heart rate during bronchoscopy was significantly lower and the mean arterial blood pressure significantly higher in dexmedetomidine group than in sevoflurane and propofol groups(P<0.05). Cough during bronchoscopy did not occur in any of the cases in propofol group, while the highest frequency of cough was recorded in dexmedetomidine group. The incidence of laryngospasm in the propofol group(12.5%) was significantly lower than those in sevoflurane and dexmedetomidine groups(30% and 32.5%, respectively)(P<0.05). Conclusion Sevoflurane and propofol are safe and suitable for anesthesia induction in children below 3 years of age undergoing diagnostic FOB and can achieve better sedative effect and lower the incidences of cough and respiratory complications as compared with dexmedetomidine.

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Respiratory complications of propofol,sevoflurane,and dexmedetomidine anesthesia for fiberoptic bronchoscopy in children aged 1 month to 3 years:a randomized trial

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南方医科大学学报 2024年第9期44卷 1631-1636页

作者： Amir Shafa Mohammad Montasery Sedighe Shahhosseini Majid Keivanfar Asieh Maghami Mehr Mahtab Ebrahim Babaei Mohammad Jafari Department of Anesthesiology Anesthesiology and Critical Care Research Center Department of pediatrics Isfahan University of Medical SciencesIsfahanIran Department of Statistics Yazd UniversityYazdIran departments of Obstetrics and Gynecology Shahrekord University of Medical SciencesShahrekordIran

Objective To evaluate the effect of propofol,sevoflurane,and dexmedetomidine on respiratory complications inchildren undergoing fiberoptic bronchoscopy(FOB).Methods This double-blind randomized clinical trial was conductedamong 120 children aged 1 month to 3 years undergoing *** patients were randomized into 3 groups(n=40)foranesthesia induction with sevoflurane inhalation,1 mg/kg propofol,or 1μg/kg dexmedetomidine before bronchoscopy,andthe changes in hemodynamic parameters,sedation level,and respiratory complications during and after the procedure *** The patients'heart rate during bronchoscopy was significantly lower and the mean arterial blood pressuresignificantly higher in dexmedetomidine group than in sevoflurane and propofol groups(P<0.05).Cough duringbronchoscopy did not occur in any of the cases in propofol group,while the highest frequency of cough was recorded indexmedetomidine *** incidence of laryngospasm in the propofol group(12.5%)was significantly lower than those insevoflurane and dexmedetomidine groups(30%and 32.5%,respectively)(P<0.05).Conclusion Sevoflurane and propofol aresafe and suitable for anesthesia induction in children below 3 years of age undergoing diagnostic FOB and can achieve bettersedative effect and lower the incidences of cough and respiratory complications as compared with dexmedetomidine.

关键词： fiberoptic bronchoscopy propofol sevoflurane dexmedetomidine children

Alzheimer's disease and low-dose radiation therapy:A new hope

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Radiation Medicine and Protection 2024年第1期5卷 1-6页

作者： Neal E.Dunlap Robert P.Friedland Lu Cai Department of Radiation Oncology University of Louisville School of MedicineLouisvilleKY40202USA Department of Neurology The University of Louisville School of MedicineLouisvilleKY40202USA Pediatric Research Institute Departments of PediatricsPharmacology and ToxicologyUniversity of Louisville School of MedicineLouisvilleKY40202USA

The concept of low-dose radiation(LDR)-induced hormetic responses was initially observed approximately 70 years ago and systematically reviewed along with the discovery of LDR-induced adaptive responses in a cytogenetic in vitro study in *** the end of the 1990s,discussions regarding the potential applications of LDRinduced hormesis and adaptive responses for preventing or treating chronic diseases,such as Alzheimer’s disease(AD)had taken *** 2016,reports on radiotherapy for the subjects with AD and for genetic AD model mice were ***,several preclinical studies with animal models of AD and clinical studies in AD subjects were conducted.A significant milestone was achieved with the online availability of a new Systematic Review based on qualified publications from these preclinical and clinical *** mini-review provides a concise historical introduction to LDR-induced hormesis and adaptive responses with discussion of AD radiotherapy with either LDR or relatively high dose *** of this Systematic Review cover promising outcomes,challenges,and new questions,followed by discussion of potential mechanisms.

关键词： Alzheimer’s disease Low-dose radiation Radiation adaptive response Radiation hormesis

A Case of Fahr’s Disease with Epilepsy as the First Symptom in Infancy

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Case Reports in Clinical Medicine 2024年第4期13卷 101-107页

作者： Qicheng Qiao Xinlu Tan Qiubo Li Clinical Medicine College Jining Medical University Jining China departments of pediatrics Affiliated Hospital of Jining Medical University Jining China

Background: Fahr’s disease, also recognized as Idiopathic Basal Ganglia Calcification (IBGC) or Primary Familial Brain Calcification (PFBC), was first identified by the German neurologist Karl Theodor Fahr in 1930. This rare condition, which involves the calcification of the basal ganglia and presents significant treatment challenges, is most commonly diagnosed in middle-aged adults and is notably uncommon in children. Purpose: We report a case of a younger patient and review this disease as an aid to early detection and diagnosis of the disease. Case Introduction: In this report, we present a unique case of Fahr’s disease in a child, where epilepsy manifested as the initial symptom during infancy. In this report, we present a case of Fahr’s disease in a child who presented with epilepsy as the first symptom in infancy. The child had no imaging abnormalities at the onset of the seizure, and subsequent antiepileptic drugs were reduced and discontinued, and when the seizure recurred 3 years later, a perfect cranial CT revealed symmetrical calcifications in the brain, which gradually worsened, and subsequently the child was unable to take care of himself and had regression of his psychomotor development, and the family requested discharge from the hospital, and then the child died during the follow-up visit. Conclusion: The disease is currently associated with a number of disorders for which there is no specific treatment, and half of all patients currently have a well-defined gene, emphasizing more importantly the importance of genetic counseling for parents known to be at risk prior to conception.

关键词： Fahr Primary Familial Brain Calcification Epilepsy

Transplantation of human placental chorionic plate-derived mesenchymal stem cells for repair of neurological damage in neonatal hypoxic-ischemic encephalopathy

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Neural Regeneration Research 2024年第9期19卷 2027-2035页

作者： Lulu Xue Ruolan Du Ning Bi Qiuxia Xiao Yifei Sun Ruize Niu Yaxin Tan Li Chen Jia Liu Tinghua Wang Liulin Xiong Transformation Research Laboratory The Affiliated Hospital of Zunyi Medical UniversityZunyiGuizhou ProvinceChina State Key Laboratory of Biotherapy Sichuan UniversityChengduSichuan ProvinceChina Institute of Neurological Disease Translational Neuroscience CenterWest China HospitalSichuan UniversityChengduSichuan ProvinceChina Department of Animal Zoology Institute of NeuroscienceKunming Medical UniversityKunmingYunnan ProvinceChina Department of Anesthesiology The Affiliated Hospital of Zunyi Medical UniversityZunyiGuizhou ProvinceChina Department of pediatrics the People’s Liberation Army Rocket Force Characteristic Medical CenterBeijingChina

Neonatal hypoxic-ischemic encephalopathy is often associated with permanent cerebral palsy,neurosensory impairments,and cognitive deficits,and there is no effective treatment for complications related to hypoxic-ischemic *** therapeutic potential of human placental chorionic plate-derived mesenchymal stem cells for various diseases has been ***,the potential use of human placental chorionic plate-derived mesenchymal stem cells for the treatment of neonatal hypoxic-ischemic encephalopathy has not yet been *** this study,we injected human placental chorionic plate-derived mesenchymal stem cells into the lateral ventricle of a neonatal hypoxic-ischemic encephalopathy rat model and observed significant improvements in both cognitive and motor *** chip analysis showed that interleukin-3 expression was significantly elevated in neonatal hypoxic-ischemic encephalopathy model *** transplantation of human placental chorionic plate-derived mesenchymal stem cells,interleukin-3 expression was *** further investigate the role of interleukin-3 in neonatal hypoxic-ischemic encephalopathy,we established an in vitro SH-SY5Y cell model of hypoxic-ischemic injury through oxygen-glucose deprivation and silenced interleukin-3 expression using small interfering *** found that the activity and proliferation of SH-SY5Y cells subjected to oxygen-glucose deprivation were further suppressed by interleukin-3 ***,interleukin-3 knockout exacerbated neuronal damage and cognitive and motor function impairment in rat models of hypoxic-ischemic *** findings suggest that transplantation of hpcMSCs ameliorated behavioral impairments in a rat model of hypoxic-ischemic encephalopathy,and this effect was mediated by interleukin-3-dependent neurological function.

关键词： behavioral evaluations gene knockout human neuroblastoma cells(SH-SY5Y) human placental chorionic derived mesenchymal stem cells interleukin-3 neonatal hypoxic-ischemic encephalopathy nerve injury oxygen-glucose deprivation protein chip small interfering RNA

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PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes

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World Journal of pediatrics 2024年第1期20卷 82-91页

作者： Han Zhang Kai Gao Shuang Wang Yue-Hua Zhang Zhi-Xian Yang Ye Wu Yu-Wu Jiang Department of pediatrics Peking University First Hospital.No.1 Xi'an Men StreetWest DistrictBeijing 100034China Bejing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases BeijingChina Children Epilepsy Center Peking University First HospitalBeijingChina Key Laboratory for neuroscience Ministry of Education/National Health and Family Planning CommissionPeking UniversityBeijingChina Center of Epilepsy Beijing Institute for Brain DisordersBeijingChina

Background The PACS gene family has been demonstrated to be related to intracellular vesicular *** phenotypic manifestations caused by the pathogenic variants of PACS include epilepsy,intellectual disability/developmental delay,and malformations,such as facial *** We identified seven new cases with pathogenic or likely pathogenic PACS variants using next-generation *** information obtained from these patients was analyzed along with that obtained from previously reported *** With the inclusion of the newly diagnosed cases in this study,103 cases with PACS gene family-related neurological diseases were reported,of which 43 were PACS2-related cases and the remaining were PACSI-related *** patients had seizures,which have been reported to be effectively controlled by several types of anti-seizure medications(ASMs).The most efficacious and frequently prescribed ASMs included sodium valproate(43.3%,13/30),oxcarbazepine/carbamazepine(26.7%,8/30),and levetiracetam(20%,6/30).Almost all patients had intellectual disability/developmental *** most common pathogenic missense variants were PACSI ***203Trp and PACS2 *** addition,we report a patient carrying a likely pathogenic copy number variation(CNV)(de novo heterozygous deletion of chr14:105821380-106107443,286 kilobase,destroyed part of the furin-binding region domain and the protein structure after it)with more severe and refractory late-onset *** The clinical phenotypes of the different PACS heterozygous missense variants were *** pathogenic variant sites of PACSI and PACS2 were quite limited but located in different regions.A CNV destroying part of the PACS2 gene might also be *** findings may provide an important clue for further functional studies on the pathogenic mechanism of neurological disorders related to the PACS gene family.

关键词： Developmental delay Epilepsy Intellectual disability PACSI PACS2

Diabetic cardiomyopathy:Importance of direct evidence to support the roles of NOD-like receptor protein 3 inflammasome and pyroptosis

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World Journal of Diabetes 2024年第8期15卷 1659-1662页

作者： Lu Cai Yi Tan Md Shahidul Islam Michael Horowitz Kupper A Wintergerst Pediatric Research Institute Departments of PediatricsRadiation OncologyPharmacology and ToxicologyUniversity of LouisvilleWendy Novak Diabetes InstituteNorton Children’s HospitalLouisvilleKY 40202United States Department of Biochemistry School of Life SciencesUniversity of KwaZulu-NatalDurban 4000KwaZulu-NatalSouth Africa Department of Medicine University of AdelaideAdelaide 5005Australia Pediatric Research Institute Division of EndocrinologyDepartment of PediatricsWendy Novak Diabetes InstituteNorton Children’s HospitalUniversity of LouisvilleLouisvilleKY 40202United States

Recently,the roles of pyroptosis,a form of cell death induced by activated NODlike receptor protein 3(NLRP3)inflammasome,in the pathogenesis of diabetic cardiomyopathy(DCM)have been extensively ***,most studies have focused mainly on whether diabetes increases the NLRP3 inflammasome and associated pyroptosis in the heart of type 1 or type 2 diabetic rodent models,and whether various medications and natural products prevent the development of DCM,associated with decreased levels of cardiac NLRP3 inflammasome and *** direct link of NLRP3 inflammasome and associated pyroptosis to the pathogenesis of DCM remains unclear based on the limited evidence derived from the available studies,with the approaches of NLRP3 gene silencing or pharmaceutical application of NLRP3 specific *** thus emphasize the requirement for more systematic studies that are designed to provide direct evidence to support the link,given that several studies have provided both direct and indirect evidence under specific *** editorial emphasizes that the current investigation should be circumspect in its conclusion,i.e.,not overemphasizing its role in the pathogenesis of DCM with the fact of only significantly increased expression or activation of NLRP3 inflammasome and pyroptosis in the heart of diabetic rodent *** clear-cut evidence-based causative roles of NLRP3 inflammasome and pyroptosis in the pathogenesis of DCM can help to develop effective and safe medications for the clinical management of DCM,targeting these biomarkers.

关键词： Diabetic cardiomyopathy Nucleotide oligomerization domain NOD-like receptor protein 3 inflammasome Cardiac cell death Pyroptosis

Low-dose immune tolerance induction for severe hemophilia A inhibitor patients:Immunosuppressants are generally not necessary for inhibitor-titer below 200 BU/mL

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Pediatric Investigation 2024年第2期8卷 91-100页

作者： Zhengping Li Jie Sun Zekun Li Zhenping Chen Guoqing Liu Wanru Yao Xiaoling Cheng Gang Li Yingzi Zhen Di Ai Yaohan Zhou Qianqian Mao Man-Chiu Poon Runhui Wu Hemophilia Comprehensive Care Center Hematology DepartmentHematology CenterBeijing Key Laboratory of Pediatric Hematology-OncologyKey Laboratory of Major Diseases in ChildrenNational Key Discipline of Pediatrics(Capital Medical University)Ministry of EducationBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Hematologic Disease Laboratory Hematology DepartmentHematology CenterBeijing Key Laboratory of Pediatric Hematology-OncologyKey Laboratory of Major Diseases in ChildrenNational Key Discipline of Pediatrics(Capital Medical University)Ministry of EducationBeijing Pediatric Research InstituteBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Department of Pharmacy Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina departments of Medicine Pediatrics and OncologyUniversity of Calgary Cumming School of MedicineCalgaryCanada

Importance:It remained unclear that the efficacy comparison between low-dose immune tolerance induction(LD-ITI)incorporating immunosuppressants(IS)when severe hemophilia A(SHA)patients had inhibitor-titer≥200 Bethesda Units(BU)/mL(LD-ITI-IS^(200) regimen)and LD-ITI combining with IS when SHA patients had inhibitor-titer≥40 BU/mL(LD-ITI-IS^(40) regimen).Objective:To compare the efficacy of the LD-ITI-IS^(200) regimen with that of the LD-ITI-IS^(40) regimen for SHA patients with high-titer ***:A prospective cohort study on patients receiving LD-ITI-IS^(200) compared to those receiving LD-ITI-IS^(40) from January 2021 to December *** received LD-ITI[FVIII 50 IU/kg every other day].IS(rituximab+prednisone)was added when peak inhibitor tier≥200 BU/mL in the LD-ITI-IS^(200) regimen and≥40 BU/mL in the LD-ITI-IS^(40) *** is defined as a negative inhibitor plus FVIII recovery≥66%of the ***:We enrolled 30 patients on LD-ITI-IS^(200) and 64 patients on LD-ITI-IS^(40),with similar baseline clinical characteristics.A lower IS-use rate was discovered in the LD-ITI-IS^(200) regimen compared to the LD-ITI-IS^(40) regimen(30.0%vs.62.5%).The two regimens(LD-ITI-IS^(200) ***-ITI-IS^(40))had similar success rate(70.0%vs.79.7%),median time to success(9.4 vs.10.6 months),and annualized bleeding rate during ITI(3.7 vs.2.8).The cost to success was lower for LD-ITI-IS^(200) than for LD-ITI-IS^(40)(2107 vs.3256 US Dollar/kg).Among patients with peak inhibitor-titer 40-199 BU/mL,10 non-IS-using(on LD-ITI-IS^(200) regimen)and 28 IS-using(on LD-ITI-IS^(40) regimen)had similar success rates(70.0%vs.78.6%)and time to success(9.0 vs.8.8 months).Interpretation:In LD-ITI,IS are not necessary for inhibitor titer<200 BU/mL.

关键词： Hemophilia A High-titer inhibitor Immune tolerance induction Immunosuppressant Low-dose

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