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Malonylcarnitine in Newborns with Non-syndromic Cleft Lip with or without Cleft Palate

International Journal of Oral Science 2010年第3期2卷 136-141页

作者： Kamil Konrad Hozyasz Mariusz Oltarzewski Zofia Dudkiewicz Pediatric Department Institute of Mother and Child Neonatal Screening Laboratory Institute of Mother and Child Department of Pediatric Surgery Institute of Mother and Child

Aim Malonyl-CoA is regarded as a key signaling molecule in mammalian ceils. It is converted to acetyl-CoA, and to a lesser extent, to malonyl acid and malonylcamitine （C3DC）. Availability of carnitine has been reported to be essential for the developing fetus. The objectives of the present study were to analyze associations of malonylcarnitine, acetylcarnitine （C2）, and free carnitine （CO） in subjects with orofacial clefts. Methodology We performed a retrospective analysis of carnitine concentration obtained from a newborn screening program carried out in our institution. Concentrations of whole blood malonylcarnitine, acetylcarnitine, and free carnitine were measured using tandem mass spectrometry. The study group consisted of 51 children with nonsyndromic cleft lip with or without cleft palate. In total, 106 healthy children without congenital anomalies served as controls. Cut-off points were established using likeli-hood ratio values. Results The mean concentration of malonylcarnitine in the cleft group was lower than that of the control group, 0.048 μmol.L^1 vs. 0.058 μmol.L^-1, respectively （P=-0.009）. In patients with orofacial cleft, low malonylcarnitine levels （〈0.047 μmol.L-1） were 1.7 times more predominant than in healthy individuals （P=-0.03）. The mean concentration of acetylcarnitine was also lower in affected newborns in comparison to controls, 33.8 μol.L^-1 vs. 37.8 μmol·L^-1, respectively （P=-0.026）. After analysis of acetylearnitine and free carnitine concentrations, the likelihood ratio test did not indicate valuable cut-offpoints. Conclusion The study provides initial data indicating a potential association between decreased malonylcarnitine and abnormal palatogenesis.

关键词： cleft palate malonyl-CoA carnitines fatty acids biotin

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Spatial transcriptomics combined with single-nucleus RNA sequencing reveals glial cell heterogeneity in the human spinal cord

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Neural Regeneration Research 2025年第11期20卷 3302-3316页

作者： Yali Chen Yiyong Wei Jin Liu Tao Zhu Cheng Zhou Donghang Zhang Department of Anesthesiology West China HospitalSichuan UniversityChengduSichuan ProvinceChina Laboratory of Anesthesia and Critical care Medicine National-Local Joint Engineering Research Center of Translational Medicine of AnesthesiologyWest China HospitalSichuan UniversityChengduSichuan ProvinceChina Department of Anesthesiology Longgang District Maternity&Child Healthcare Hospital of Shenzhen City(Longgang Maternity and Child Institute of Shantou University Medical College)ShenzhenGuangdong ProvinceChina Department of Anesthesiology Affiliated Hospital of Zunyi Medical UniversityZunyiGuizhou ProvinceChina

Glial cells play crucial roles in regulating physiological and pathological functions,including sensation,the response to infection and acute injury,and chronic neurodegenerative *** cells include astrocytes,microglia,and oligodendrocytes in the central nervous system,and satellite glial cells and Schwann cells in the peripheral nervous *** the greater understanding of glial cell types and functional heterogeneity achieved through single-cell and single-nucleus RNA sequencing in animal models,few studies have investigated the transcriptomic profiles of glial cells in the human spinal ***,we used high-throughput single-nucleus RNA sequencing and spatial transcriptomics to map the cellular and molecular heterogeneity of astrocytes,microglia,and oligodendrocytes in the human spinal *** explore the conservation and divergence across species,we compared these findings with those from *** the human spinal cord,astrocytes,microglia,and oligodendrocytes were each divided into six distinct transcriptomic *** the mouse spinal cord,astrocytes,microglia,and oligodendrocytes were divided into five,four,and five distinct transcriptomic subclusters,*** comparative results revealed substantial heterogeneity in all glial cell types between humans and ***,we detected sex differences in gene expression in human spinal cord glial ***,in all astrocyte subtypes,the levels of NEAT1 and CHI3L1 were higher in males than in females,whereas the levels of CST3 were lower in males than in *** all microglial subtypes,all differentially expressed genes were located on the sex *** addition to sex-specific gene differences,the levels of MT-ND4,MT2A,MT-ATP6,MT-CO3,MT-ND2,MT-ND3,and MT-CO_(2) in all spinal cord oligodendrocyte subtypes were higher in females than in ***,the present dataset extensively characterizes glial cell heterogeneity and offers a valuable resource for explo

关键词： astrocyte glial cell human microglia oligodendrocyte sex differentiation single-nucleus RNA sequencing spatial transcriptomics species variation spinal cord

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Age-specific causes of upper gastrointestinal bleeding in children

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World Journal of Gastroenterology 2023年第47期29卷 6095-6110页

作者： Marija Kocic Petar Rasic Vuk Marusic Dragan Prokic Djordje Savic Maja Milickovic Ivana Kitic Tanja Mijovic Adrijan Sarajlija Department of Gastroenterology Hepatology and NutritionMother and Child Health Care Institute of Serbia“Dr.Vukan Cupic”Belgrade 11000Serbia Department of Abdominal Surgery Mother and Child Health Care Institute of Serbia“Dr.Vukan Cupic”Belgrade 11000Serbia institute of Epidemiology Faculty of MedicineUniversity of BelgradeBelgrade 11000Serbia Faculty of Medicine University of BelgradeBelgrade 11000Serbia Pediatric Day care Hospital Department Mother and Child Health Care Institute of Serbia“Dr.Vukan Cupic”Belgrade 11000Serbia Department of Abdominal Surgery Mother and Child Health Care Institute of Serbia“Dr.Vukan Cupic”Radoja Dakica 6-8Belgrade 11000Serbia

The etiology of upper gastrointestinal bleeding(UGIB)varies by age,from newborns to adolescents,with some of the causes overlapping between age *** particular causes such as vitamin K deficiency and cow’s milk protein allergy are limited to specific age groups,occurring only in neonates and infants,others such as erosive esophagitis and gastritis may be identified at all ***,the incidence of UGIB is variable throughout the world and in different hospital *** North America and Europe,most UGIBs are nonvariceal,associated with erosive esophagitis,gastritis,and gastric and duodenal *** recent years,the most common causes in some Middle Eastern and Far Eastern countries are becoming similar to those in Western ***,variceal bleeding still predominates in certain parts of the world,especially in South *** most severe hemorrhage arises from variceal bleeding,peptic ulceration,and disseminated intravascular *** is a credible indicator of a UGI source of bleeding in the majority of *** familiar with the most likely UGIB causes in specific ages and geographic areas is especially important for adequate orientation in clinical settings,the use of proper diagnostic tests, and rapid initiation of the therapy. The fundamental approach to the management of UGIBincludes an immediate assessment of severity, detecting possible causes, and providing hemodynamic stability,followed by early endoscopy. Unusual UGIB causes must always be considered when establishing a diagnosis inthe pediatric population because some of them are unique to children. Endoscopic techniques are of significantdiagnostic value, and combined with medicaments, may be used for the management of acute bleeding. Finally,surgical treatment is reserved for the most severe bleeding.

关键词： Upper gastrointestinal bleeding Age-specific Epidemiology Pediatric Unusual cause

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Enhanced autophagic clearance of amyloid-βvia histone deacetylase 6-mediated V-ATPase assembly and lysosomal acidification protects against Alzheimer's disease in vitro and in vivo

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Neural Regeneration Research 2025年第9期20卷 2633-2644页

作者： Zhimin Long Chuanhua Ge Yueyang Zhao Yuanjie Liu Qinghua Zeng Qing Tang Zhifang Dong Guiqiong He institute of Neuroscience School of Basic Medical SciencesChongqing Medical UniversityChongqingChina Department of Anatomy Chongqing Medical UniversityChongqingChina Department of Physiology Chongqing Medical UniversityChongqingChina Pediatric Research institute Children’s Hospital of Chongqing Medical UniversityChongqingChina Ministry of Education Key Laboratory of child Development and Disorders Children’s Hospital of Chongqing Medical UniversityChongqingChina National Clinical Research Center for child Health and Disorders Children’s Hospital of Chongqing Medical UniversityChongqingChina Chongqing Key Laboratory of child Neurodevelopment and Cognitive Disorders Children’s Hospital of Chongqing Medical UniversityChongqingChina

Recent studies have suggested that abnormal acidification of lysosomes induces autophagic accumulation of amyloid-βin neurons,which is a key step in senile plaque ***,resto ring normal lysosomal function and rebalancing lysosomal acidification in neurons in the brain may be a new treatment strategy for Alzheimer's *** acetylation/deacetylation plays a central role in lysosomal ***,we show that inhibiting the classic microtubule deacetylase histone deacetylase 6 with an histone deacetylase 6 shRNA or thehistone deacetylase 6 inhibitor valproic acid promoted lysosomal reacidification by modulating V-ATPase assembly in Alzheimer's *** rthermore,we found that treatment with valproic acid markedly enhanced *** clearance of amyloid-βaggregates,and ameliorated cognitive deficits in a mouse model of Alzheimer's *** findings demonstrate a previously unknown neuroprotective mechanism in Alzheimer's disease,in which histone deacetylase 6 inhibition by valproic acid increases V-ATPase assembly and lysosomal acidification.

关键词： Alzheimer's disease amyloid-β APP/PS1 mice autophagy cognitive impairment histone deacetylase 6 lysosomal acidification microtubule acetylation valproic acid V-ATPase

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Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures

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Neural Regeneration Research 2025年第1期20卷 265-276页

作者： Yao Yuan Lingqi Yu Xudong Zhuang Dongjing Wen Jin He Jingmei Hong Jiayu Xie Shengan Ling Xiaoyue Du Wenfeng Chen Xinrui Wang institute of Life Sciences College of Biological Science and EngineeringFuzhou UniversityFuzhouFujian ProvinceChina NHC Key Laboratory of Technical Evaluation of Fertility Regulation for Non-human Primate(Fujian Maternity and child Health Hospital) FuzhouFujian ProvinceChina Medical Research Center Fujian Maternity and Child Health HospitalCollege of Clinical Medicine for Obstetrics&Gynecology and PediatricsFujian Medical UniversityFuzhouFujian ProvinceChina Department of Neurology and institute of Neurology of The First Affiliated Hospital Institute of Neuroscienceand Fujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhouFujian ProvinceChina

Certain amino acids changes in the human Na^(+)/K^(+)-ATPase pump,ATPase Na^(+)/K^(+)transporting subunit alpha 1(ATP1A1),cause Charcot-Marie-Tooth disease type 2(CMT2)disease and refractory *** develop in vivo models to study the role of Na^(+)/K^(+)-ATPase in these diseases,we modified the Drosophila gene homolog,Atpα,to mimic the human ATP1A1 gene mutations that cause *** located within the helical linker region of human ATP1A1(I592T,A597T,P600T,and D601F)were simultaneously introduced into endogenous Drosophila Atpαby CRISPR/Cas9-mediated genome editing,generating the Atpα^(TTTF)*** addition,the same strategy was used to generate the corresponding single point mutations in flies(Atpα^(I571T),Atpα^(A576T),Atpα^(P579T),and Atpα^(D580F)).Moreover,a deletion mutation(Atpα^(mut))that causes premature termination of translation was generated as a positive *** these alleles,we found two that could be maintained as homozygotes(Atpα^(I571T)and Atpα^(P579T)).Three alleles(Atpα^(A576T),Atpα^(P579)and Atpα^(D580F))can form heterozygotes with the Atpαmut *** found that the Atpαallele carrying these CMT2-associated mutations showed differential phenotypes in *** heterozygous for Atpα^(TTTF)mutations have motor performance defects,a reduced lifespan,seizures,and an abnormal neuronal *** Drosophila models will provide a new platform for studying the function and regulation of the sodium-potassium pump.

关键词： ATP1A1 Atpα bang-sensitive paralysis Charcot-Marie-Tooth disease type 2 CRISPR/Cas9 homology-directed repair Na^(+)/K^(+)-ATPase point mutation seizures sodium pump

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B7 homologue 3 as a prognostic biomarker and potential therapeutic target in gastrointestinal tumors

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World Journal of Gastrointestinal Oncology 2021年第8期13卷 799-821页

作者： Petar Rasic Maja Jovanovic-Tucovic Marija Jeremic Slavisa M Djuricic Zorica V Vasiljevic Maja Milickovic Djordje Savic Department of Abdominal Surgery Mother and Child Health Care Institute of Serbia“Dr.Vukan Cupic”Belgrade 11000Serbia institute of Medical and Clinical Biochemistry School of MedicineUniversity of BelgradeBelgrade 11000Serbia Department of Clinical Pathology Mother and Child Health Care Institute of Serbia“Dr.Vukan Cupic”Belgrade 11000Serbia Faculty of Medicine University of Banja LukaBanja Luka 78000Bosnia and Herzegovina Department of Clinical Microbiology Mother and Child Health Care Institute of Serbia“Dr.Vukan Cupic”Belgrade 11000Serbia School of Medicine University of BelgradeBelgrade 11000Serbia

The most common digestive system(DS)cancers,including tumors of the gastrointestinal tract(GIT)such as colorectal cancer(CRC),gastric cancer(GC)and esophageal cancer(EC)as well as tumors of DS accessory organs such as pancreatic and liver cancer,are responsible for more than one-third of all cancerrelated deaths worldwide,despite the progress that has been achieved in anticancer *** to these limitations in treatment strategies,oncological research has taken outstanding steps towards a better understanding of cancer cell biological complexity and *** studies led to new molecular target-driven therapeutic *** in vivo and in vitro studies have revealed significant expression of B7 homologue 3(B7-H3)among the most common cancers of the GIT,including CRC,GC,and EC,whereas B7-H3 expression in normal healthy tissue of these organs was shown to be absent or *** molecule is able to influence the biological behavior of GIT tumors through the various immunological and nonimmunological molecular mechanisms,and some of them are shown to be the result of B7-H3-related induction of signal transduction pathways,such as Janus kinase 2/signal transducer and activator of transcription 3,phosphatidylinositol 3-kinase/protein kinase B,extracellular signal-regulated kinase,and nuclear factor-κB.B7-H3 exerts an important role in progression,metastasis and resistance to anticancer therapy in these *** addition,the results of many studies suggest that B7-H3 stimulates immune evasion in GIT tumors by suppressing antitumor immune ***,it was observed that experimental depletion or inhibition of B7-H3 in gastrointestinal cancers improved antitumor immune response,impaired tumor progression,invasion,angiogenesis,and metastasis and decreased resistance to anticancer ***,the high expression of B7-H3 in most common cancers of the GIT was shown to be associated with poor *** this review,we summarize the est

关键词： B7 homologue 3 Gastrointestinal tumors Colorectal cancer Gastric cancer Esophageal cancer Targeted therapy

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Acute acalculous cholecystitis in children

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World Journal of Gastroenterology 2018年第43期24卷 4870-4879页

作者： Dimitri Poddighe Vitaliy Sazonov Department of Medicine School of MedicineNazarbayev University Pediatric Intensive care Unit UMC National Research Center for Mother and Child Health

Acute acalculous cholecystitis(AAC) is the inflammatory disease of the gallbladder in the absence of gallstones. AAC is estimated to represent at least 50% to 70% of all cases of acute cholecystitis during childhood. Although this pathology was originally described in critically ill or post-surgical patients, most pediatric cases have been observed during several infectious diseases. In addition to cases caused by bacterial and parasitic infections, most pediatric reports after 2000 described children developing AAC during viral illnesses(such as Epstein-Barr virus and hepatitis A virus infections). Moreover, some pediatric cases have been associated with several underlying chronic diseases and, in particular, with immune-mediated disorders. Here, we review the epidemiological aspects of pediatric AAC, and we discuss etiology, pathophysiology and clinical management, according to the cases reported in the medical literature.

关键词： Acute acalculous cholecystitis children Viral biliary disorders

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Ages of celiac disease: From changing environment to improved diagnostics

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World Journal of Gastroenterology 2011年第32期17卷 3665-3671页

作者： Alberto Tommasini Tarcisio Not Alessandro Ventura Laboratory of Immunopathology Institute for Maternal and Child Health Scientific Institute for Research and Care Burlo Garofolo and University of Trieste Department of Pediatrics Institute for Maternal and Child Health Scientific Institute for Research and Care Burlo Garofolo and University of Trieste

From the time of Gee's landmark writings, the recent history of celiac disease (CD) can be divided into many ages, each driven by a diagnostic advance and a deeper knowledge of disease pathogenesis. At the same time, these advances were paralleled by the identification of new clinical patterns associated with CD and by a continuous redefinition of the prevalence of the disease in population. In the beginning, CD was considered a chronic indigestion, even if the causative food was not known; later, the disease was proven to depend on an intolerance to wheat gliadin, leading to typical mucosal changes in the gut and to a malabsorption syndrome. This knowledge led to curing the disease with a gluten-free diet. After the identification of antibodies to gluten (AGA) in the serum of patients and the identification of gluten-specific lymphocytes in the mucosa, CD was described as an immune disorder, resembling a chronic "gluten infection". The use of serological testing for AGA allowed identification of the higher prevalence of this disorder, revealing atypical patterns of presentation. More recently, the characterization of autoantibodies to endomysium and to transglutaminase shifted the attention to a complex autoimmune pathogenesis and to the increased risk of developing autoimmune disorders in untreated CD. New diagnostic assays, based on molecular technologies, will introduce new changes, with the promise of better defining the spectrum of gluten reactivity and the real burden of gluten related-disorders in the population. Herein, we describe the different periods of CD experience, and further developments for the next celiac age will be proposed.

关键词： Antibodies Autoimmunity Celiac disease Diagnostics History Intestinal mucosa

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Intrauterine Insemination—Our Results between the Years 2008-2012

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Advances in Reproductive Sciences 2015年第2期3卷 34-40页

作者： Vilma Lánská Blanka Koubková Jitka Rezácová Michal Krcmár Pavel Darebny Lucie Melicharová Katerina Dohnalová Alena Vaverková Jaroslav Feyereisl institute for the care of mother and child PragueCzech Republic

The purpose of this retrospective study was to determine whether or not there was a significant relationship between women’s age as a cause of sterility and pregnancy after IUI. Furthermore, we evaluated the effect of stimulation of antiestrogens and time of hCG administration on the success of IUI in relation to the age of women. During the period between 2008 and 2012, we performed a total number of 793 IUI. Patients were prepared for IUI in the natural cycle and stimulation with antiestrogens (clomiphene citrate-CC). Ovulation was induced by hCG (Ovitrelle) 40 hours before IUI or immediately after the procedure. Sperm was processed through density gradients. The average success rate of IUI was 10.2% of pregnant women per cycle. Significantly the highest number of pregnant women 16.3% was women with a diagnosis of anovulation. Significantly the lowest success rate of IUI was at the immunological cause of infertility and endometriosis. There was no evidence of age dependence for women on the success of IUI. Stimulation of CC did not significantly increase the chance of becoming pregnant. There was also no statistically significant difference in hCG before and after IUI pregnancy success. The most important group of women for whom IUI is a suitable form of assisted reproduction consists of patients of 35 years old with anovulation cause of sterility. Those patients with an immunological cause of infertility and endometriosis have significantly lower chances of conceiving after IUI and it is preferable for them to choose other techniques of assisted reproduction and embryo transfer.

关键词： Intrauterine Insemination Pregnancy Rate Woman’s Age Cause of Infertility Administration of Clomiphene Citrate and Ovitrelle

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Machine learning applications in stroke medicine:advancements,challenges,and future prospectives

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Neural Regeneration Research 2024年第4期19卷 769-773页

作者： Mario Daidone Sergio Ferrantelli Antonino Tuttolomondo Internal Medicine and Stroke care Ward Department of Health PromotionMother and Child CareInternal Medicine and Medical SpecialtiesUniversity of Palermo Molecular and Clinical Medicine PhD Program University of Palermo

Stroke is a leading cause of disability and mortality worldwide,necessitating the development of advanced technologies to improve its diagnosis,treatment,and patient *** recent years,machine learning techniques have emerged as promising tools in stroke medicine,enabling efficient analysis of large-scale datasets and facilitating personalized and precision medicine *** abstract provides a comprehensive overview of machine learning’s applications,challenges,and future directions in stroke *** introduced machine learning algorithms have been extensively employed in all the fields of stroke *** learning models have demonstrated remarkable accuracy in imaging analysis,diagnosing stroke subtypes,risk stratifications,guiding medical treatment,and predicting patient *** the tremendous potential of machine learning in stroke medicine,several challenges must be *** include the need for standardized and interoperable data collection,robust model validation and generalization,and the ethical considerations surrounding privacy and *** addition,integrating machine learning models into clinical workflows and establishing regulatory frameworks are critical for ensuring their widespread adoption and impact in routine stroke *** learning promises to revolutionize stroke medicine by enabling precise diagnosis,tailored treatment selection,and improved *** research and collaboration among clinicians,researchers,and technologists are essential for overcoming challenges and realizing the full potential of machine learning in stroke care,ultimately leading to enhanced patient outcomes and quality of *** review aims to summarize all the current implications of machine learning in stroke diagnosis,treatment,and prognostic *** the same time,another purpose of this paper is to explore all the future perspectives these techniques can provide in combating this disabling dis

关键词： cerebrovascular disease deep learning machine learning reinforcement learning stroke stroke therapy supervised learning unsupervised learning

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