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A Comparison between Late Preterm and Term Infants with Respiratory Distress Syndrome, Early-Onset Sepsis, and Neonatal Jaundice in Ecuadorian Newborns
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作者 Teresa Altamirano Molina 《Open Journal of Pediatrics》 2024年第1期22-35,共14页
Background: To examine the differences in prevalence of respiratory distress syndrome, early-onset sepsis and jaundice, between late preterm infants versus term infants in Ecuadorian newborns. Methods: Study design: E... Background: To examine the differences in prevalence of respiratory distress syndrome, early-onset sepsis and jaundice, between late preterm infants versus term infants in Ecuadorian newborns. Methods: Study design: Epidemiological, observational, and cross-sectional, with two cohorts of patients. Settings: IESS Quito Sur Hospital at Quito, Ecuador, from February to April of 2020. Participants: This study included 204 newborns, 102 preterm infants, 102 term infants. Results: There are significant differences between late preterm infants and term infants, with a p-value of 0.000 in the prevalence of early sepsis, 70.59% vs. 35.29%. In respiratory distress syndrome between late and term premature infants, significant differences were observed with a p-value of 0.000, the proportion being 55.58% vs. 24.51% respectively. The prevalence of jaundice is higher in term infants with a p value of 0.002, 72.55%, versus 51.96% in late preterm infants, and the mean value of bilirubins in mg/dL was higher in term infants 14.32 versus 12.33 in late preterm infants;this difference is statistically significant with a p value of 0.004. Admission to the NICU is more frequent in late preterm infants with a p-value of 0.000, being 42.16% for late preterm infants vs. 7.84% in term infants;the mean of the hospital days with p-value 0.005, was higher in late preterm infants 4.97 days vs. 3.55 days for term newborns. Conclusion: Due to the conditions of their immaturity, late preterm infants are 2.86 times more likely to present early sepsis than full-term newborns. It is shown that late preterm infants are 2.69 times more likely to have respiratory distress syndrome compared to term infants, therefore, late preterm infants have a longer hospital stay of 4.97 days versus 3.55 days in term infants. Jaundice and mean bilirubin levels are higher in term infants due to blood group incompatibility and insufficient breastfeeding. 展开更多
关键词 Late Preterm Term Newborn Respiratory Distress Syndrome Early onset Sepsis JAUNDICE
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Clinical characteristics of patients with early-and late-onset optic neuromyelitis optica spectrum disease
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作者 LI Fei LIU Ting +5 位作者 Yang Yi-hao LIN Hui-xia TONG jing-yi LI Zong-jun LIANG Bin-ji LI Qi-fu 《Journal of Hainan Medical University》 CAS 2024年第2期14-19,共6页
Objective:To analyze the different clinical features of patients with early-onset(EO-NMOSDs)and late-onset neuromyelitis optica spectrum diseases(LO-NMOSDs).Methods:A total of 51patients with neuromyelitis optica spec... Objective:To analyze the different clinical features of patients with early-onset(EO-NMOSDs)and late-onset neuromyelitis optica spectrum diseases(LO-NMOSDs).Methods:A total of 51patients with neuromyelitis optica spectrum disease who were diagnosed in our hospital for the first time from January 2015 to December 2022 were included in the First Affiliated Hospital of Hainan Medical College and divided into 22 cases in the EO-NMOSDs group and 29 cases in the LO-NMOSDs group according to whether the age of onset was 50 years old.The basic data,Extended Disability Status Scale(EDSS)score,blood and cerebrospinal fluid test indicators of the two groups were statistically analyzed.Results:There were no significant differences in demographic characteristics,clinical features and serum AQP-4 antibody positivity rate between the two groups(all P>0.05),and there were significant differences in triglycerides(TG),low-density lipoprotein(LDL),apolipoprotein A(APOA),apolipoprotein B(APOB)and lipoprotein a(P=0.010,P=0.048,P=0.014,P=0.061,P=0.001,respectively),and cerebrospinal fluid LDH,There were significant differences between microprotein quantification and EDSS score(P=0.018,P=0.034,P=0.025,respectively),and the level of microprotein quantification in cerebrospinal fluid of LO-NMOSDs had a certain correlation with the degree of disability(r=0.52,P<0.03).Conclusion:LO-NMOSDs and EO-NMOSDs group patients have similar demographic characteristics,serum AQP-4 antibody positive rate and clinical features,but compared with EO-NMOSDs,patients in LO-NMOSDs group are prone to abnormal lipid metabolism,higher trace proteins in cerebrospinal fluid and more likely to be disabled,and among LO-NMOSDs,the higher the trace protein in the cerebrospinal fluid,the more severe the disability status of patients. 展开更多
关键词 Optic neuromyelitis optica spectrum DISORDERS Late onset Cerebrospinal fluid microprotein quantification EDSS score
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Approach to early-onset colorectal cancer:Clinicopathological,familial,molecular and immunohistochemical characteristics 被引量:3
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作者 Jose Perea Edurne Alvaro +8 位作者 Yolanda Rodríguez Cristina Gravalos Eva Sánchez-Tomé Barbara Rivera Francisco Colina Pablo Carbonell Rogelio González-Sarmiento Manuel Hidalgo Miguel Urioste 《World Journal of Gastroenterology》 SCIE CAS CSCD 2010年第29期3697-3703,共7页
AIM:To characterize clinicopathological and familial features of early-onset colorectal cancer(CRC) and compare features of tumors with and without microsatellite instability(MSI).METHODS:Forty-five patients with CRC ... AIM:To characterize clinicopathological and familial features of early-onset colorectal cancer(CRC) and compare features of tumors with and without microsatellite instability(MSI).METHODS:Forty-five patients with CRC aged 45 or younger were included in the study.Clinical information,a three-generation family history,and tumor samples were obtained.MSI status was analyzed and mismatch repair genes were examined in the MSI families.Tumors were included in a tissue microarray and an immunohistochemical study was carried out with a panel of selected antibodies.RESULTS:Early onset CRC is characterized by advanced stage at diagnosis,right colon location,low-grade of differentiation,mucin production,and presence of polyps.Hereditary forms represent at least 21% of cases.Eighty-one percent of patients who died during followup showed a lack of expression of cyclin E,which could be a marker of poor prognosis.β-catenin expression was normal in a high percentage of tumors.CONCLUSION:Early-onset CRC has an important familial component,with a high proportion of tumors showing microsatellite stable.Cyclin E might be a poor prognosis factor. 展开更多
关键词 Early onset colorectal cancer Microsatellite instability Lynch syndrome Microsatellite stable colorectal cancer
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Early-onset colorectal cancer:A sporadic or inherited disease? 被引量:13
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作者 Vittoria Stigliano Lupe Sanchez-Mete +1 位作者 Aline Martayan Marcello Anti 《World Journal of Gastroenterology》 SCIE CAS 2014年第35期12420-12430,共11页
Colorectal cancer is the third most common cancer diagnosed worldwide. Although epidemiology data show a marked variability around the world, its overall incidence rate shows a slow but steady decrease, mainly in deve... Colorectal cancer is the third most common cancer diagnosed worldwide. Although epidemiology data show a marked variability around the world, its overall incidence rate shows a slow but steady decrease, mainly in developed countries. Conversely, early-onset colorectal cancer appears to display an opposite trend with an overall prevalence in United States and European Union ranging from 3.0% and 8.6%. Colorectal cancer has a substantial proportion of familial cases. In particular, early age at onset is especially suggestive of hereditary predisposition. The clinicopathological and molecular features of colorectal cancer cases show a marked heterogeneity not only between early- and late-onset cases but also within the early-onset group. Two distinct subtypes of early-onset colorectal cancers can be identified: a &#x0201c;sporadic&#x0201d; subtype, usually without family history, and an inherited subtype arising in the context of well defined hereditary syndromes. The pathogenesis of the early-onset disease is substantially well characterized in the inherited subtype, which is mainly associated to the Lynch syndrome and occasionally to other rare mendelian diseases, whereas in the &#x0201c;sporadic&#x0201d; subtype the origin of the disease may be attributed to the presence of various common/rare genetic variants, so far largely unidentified, displaying variable penetrance. These variants are thought to act cumulatively to increase the risk of colorectal cancer, and presumably to also anticipate its onset. Efforts are ongoing in the attempt to unravel the intricate genetic basis of this &#x0201c;sporadic&#x0201d; early-onset disease. A better knowledge of molecular entities and pathways may impact on family-tailored prevention and clinical management strategies. 展开更多
关键词 early-onset colorectal cancer Epidemiology Hereditary syndrome Lynch syndrome MUTYH-associated polyposis
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Circulating MicroRNAs as Novel Diagnostic Biomarkers for Very Early-onset(≤40 years) Coronary Artery Disease 被引量:5
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作者 DU Ying YANG Sheng Hua +10 位作者 LI Sha CUI Chuan Jue ZHANG Yan ZHU Cheng Gang GUO Yuan Lin WU Na Qiong GAO Ying SUN Jing DONG Qian LIU Geng LI Jian Jun 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2016年第8期545-554,共10页
Objective Very early-onset coronary artery disease (CAD) is a great challenge in cardiovascular medicine throughout the world, especially regarding its early diagnosis. This study explored whether circulating microR... Objective Very early-onset coronary artery disease (CAD) is a great challenge in cardiovascular medicine throughout the world, especially regarding its early diagnosis. This study explored whether circulating microRNAs (miRNAs) could be used as potential biomarkers for patients with very early-onset CAD. Methods We performed an initial screening of miRNA expression using RNA isolated from 20 patients with angiographically documented very early-onset CAD and 20 age- and sex-matched normal controls. For further confirmation, we prospectively examined the miRNAs selected from 40 patients with very early-onset CAD and 40 angiography-normal controls. Results A total of 22 overexpressed miRNAs and 22 underexpressed miRNAs were detected in the initial screening. RT-qPCR analysis of the miRNAs obtained from the initial screening revealed that four miRNAs including miR-196-5p, miR-3163-3p, miR-145-3p, and miR-190a-5p exhibited significantly decreased expression in patients compared with that in controls (P〈0.05). The areas under the receiver operating characteristic curve for these miRNAs were 0.824 (95% CI, 0.731-0.917; P〈0.001), 0.758 (95% CI, 0.651-0.864; P〈0.001), 0.753 (95% CI, 0.643-0.863; P〈0.001), and 0.782 (95% CI, 0.680-0.884; P〈0.001), respectively, in the validation set. Conclusion To our knowledge, this is an advanced study to report about four serum miRNAs (miR-196-5p, miR-3163-3p, miR-145-3p, and miR-190a-5p) that could be used as novel biomarkers for the diagnosis of very early-onset CAD. 展开更多
关键词 MICRORNA BIOMARKER early-onset coronary artery disease
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Molecular alterations in gastric cancer with special reference to the early-onset subtype 被引量:6
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作者 Malgorzata Skierucha Anya NA Milne +3 位作者 G Johan A Offerhaus Wojciech P Polkowski Ryszard Maciejewski Robert Sitarz 《World Journal of Gastroenterology》 SCIE CAS 2016年第8期2460-2474,共15页
Currently, gastric cancer(GC) is one of the most frequently diagnosed neoplasms, with a global burden of 723000 deaths in 2012. It is the third leading cause of cancer-related death worldwide. There are numerous possi... Currently, gastric cancer(GC) is one of the most frequently diagnosed neoplasms, with a global burden of 723000 deaths in 2012. It is the third leading cause of cancer-related death worldwide. There are numerous possible factors that stimulate the procarcinogenic activity of important genes. These factors include genetic susceptibility expressed in a singlenucleotide polymorphism, various acquired mutations(chromosomal instability, microsatellite instability, somatic gene mutations, epigenetic alterations) and environmental circumstances(e.g., helicobcter pylori infection, EBV infection, diet, and smoking). Most of the aforementioned pathways overlap, and authors agree that a clear-cut pathway for GC may not exist. Thus, the categorization of carcinogenic events is complicated. Lately, it has been claimed that research on early-onset gastric carcinoma(EOGC) and hereditary GC may contribute towards unravelling some part of the mystery of the GC molecular pattern because young patients are less exposed to environmental carcinogens and because carcinogenesis in this setting may be more dependent on genetic factors. The comparison of various aspects that differ and coexist in EOGCs and conventional GCs might enable scientists to: distinguish which features in the pathway of gastric carcinogenesisare modifiable, discover specific GC markers and identify a specific target. This review provides a summary of the data published thus far concerning the molecular characteristics of GC and highlights the outstanding features of EOGC. 展开更多
关键词 Gastric cancer early-onset gastric cancer Molecular alterations Chromosomal instability Single-nucleotide polymorphism Microsatellite instability Epigenetic alterations Loss of heterozygosity
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Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer 被引量:5
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作者 gulcin tezcan berrin tunca +2 位作者 secil ak gulsah cecener unal egeli 《World Journal of Gastrointestinal Oncology》 SCIE CAS 2016年第1期83-98,共16页
Colorectal cancer(CRC) is the third most frequent cancer type and the incidence of this disease is increasing gradually per year in individuals younger than 50 years old. The current knowledge is that early-onset CRC(... Colorectal cancer(CRC) is the third most frequent cancer type and the incidence of this disease is increasing gradually per year in individuals younger than 50 years old. The current knowledge is that early-onset CRC(EOCRC) cases are heterogeneous population that includes both hereditary and sporadic forms of the CRC. Although EOCRC cases have some distinguishing clinical and pathological features than elder age CRC, the molecular mechanism underlying the EOCRC is poorly clarified. Given the significance of CRC in the world of medicine, the present review will focus on the recent knowledge in the molecular basis of genetic and epigenetic mechanism of the hereditary forms of EOCRC, which includes Lynch syndrome, Familial CRC type X, Familial adenomatous polyposis, Mut YH-associated polyposis, Juvenile polyposis syndrome, Peutz-Jeghers Syndrome and sporadic forms of EOCRC. Recent findings about molecular genetics and epigenetic basis of EOCRC gave rise to new alternative therapy protocols. Although exact diagnosis of these cases still remains complicated, the present review paves way for better predictions and contributes to more accurate diagnostic and therapeutic strategies into clinical approach. 展开更多
关键词 early-onset COLORECTAL cancer Epigeneticmechanism GENETIC mechanism Clinical OUTCOME
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Early-onset gastric cancer:Learning lessons from the young 被引量:3
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作者 Anya N Milne G Johan A Offerhaus 《World Journal of Gastrointestinal Oncology》 SCIE CAS 2010年第2期59-64,共6页
There is by no means a clear-cut pattern of mutations contributing to gastric cancers,and gastric cancer research can be hampered by the diversity of factors that can induce gastric cancer,such as Helicobacter pylori ... There is by no means a clear-cut pattern of mutations contributing to gastric cancers,and gastric cancer research can be hampered by the diversity of factors that can induce gastric cancer,such as Helicobacter pylori infection,diet,ageing and other environmental factors.Tumours are unquestionably riddled with genetic changes yet we are faced with an unsolvable puzzle with respect to a temporal relationship.It is postulated that inherited genetic factors may be more important in early-onset gastric cancer (EOGC) than in gastric cancers found in older patients as they have less exposure to environmental carcinogens.EOGC,therefore,could provide a key to unravelling the genetic changes in gastric carcinogenesis.Gastric cancers occurring in young patients provide an ideal background on which to try and uncover the initiating stages of gastric carcinogenesis.This review summarizes the literature regarding EOGC and also presents evidence that these cancers have a unique molecular-genetic phenotype,distinct from conventional gastric cancer. 展开更多
关键词 GASTRIC CANCER early-onset GASTRIC CANCER HELICOBACTER PYLORI
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Role of DYT1 gene in early-onset primary torsion dystonia 被引量:1
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作者 Xiaohui Hu Xueping Chen Rui Huang Huifang Shang 《Neural Regeneration Research》 SCIE CAS CSCD 2010年第18期1429-1434,共6页
Mutation of the DYT1 gene has been reported to cause early-onset primary torsion dystonia (DYT1) Due to DYT1 gene mutation, defective wild torsinA and the accumulation of mutant torsinA (GAG-deleted DYT1 gene encod... Mutation of the DYT1 gene has been reported to cause early-onset primary torsion dystonia (DYT1) Due to DYT1 gene mutation, defective wild torsinA and the accumulation of mutant torsinA (GAG-deleted DYT1 gene encoded the mutant torsinA, torsinA&E) play an important role in DYT1 pathogenesis. Intracellular inclusion bodies are formed, and dopamine transport and release are disturbed by interfering functions of endoplasmic reticulum, nuclear membrane, and cytoskeleton of neural cells, resulting in DYT1 onset. Small interfering RNA could serve as a potential therapy for DYT1. However, the exact function of wild torsinA and the pathological effects of torsinAAE require further studies. 展开更多
关键词 early-onset primary torsion dystonia TORSINA DYT1 RNA interference
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Serial elongation-derotation-flexion casting for children with early-onset scoliosis 被引量:2
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作者 Federico Canavese Antoine Samba +2 位作者 Alain Dimeglio Mounira Mansour Marie Rousset 《World Journal of Orthopedics》 2015年第11期935-943,共9页
Various early-onset spinal deformities, particularly infantile and juvenile scoliosis(JS), still pose challenges to pediatric orthopedic surgeons. The ideal treatment of these deformities has yet to emerge, as both cl... Various early-onset spinal deformities, particularly infantile and juvenile scoliosis(JS), still pose challenges to pediatric orthopedic surgeons. The ideal treatment of these deformities has yet to emerge, as both clinicians and surgeons still face multiple challenges including preservation of thoracic motion, spine and cage, and protection of cardiac and lung growth and function. Elongation-derotation-flexion(EDF) casting is a technique that uses a custom-made thoracolumbar cast based on a three-dimensional correction concept. EDF can control progression of the deformity and- in some cases-coax the initially-curved spine to grow straighter by acting simultaneously in the frontal, sagittal and coronal planes. Here we provide a comprehensive review of how infantile and JS can affect normal spine and thorax and how serial EDF casting can be used to manage these spinal deformities. A fresh review of the literature helps fully understand the principles of the serial EDF casting technique and the effectiveness of conservative treatment in patients with early-onset spinal deformities, particularly infantile and juvenile scolisois. 展开更多
关键词 early-onset SCOLIOSIS Infantile SCOLIOSIS Juvenile SCOLIOSIS Elongation-derotation-flexion CASTING Conservative
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Different Fetal and Neonatal Growth between Early- and Late-Onset Preeclampsia
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作者 Takashi Mitsui Hisashi Masuyama +3 位作者 Eriko Eto Etsuko Nobumoto Kei Hayata Yuji Hiramatsu 《Open Journal of Obstetrics and Gynecology》 2015年第9期516-521,共6页
Preeclampsia is a heterogeneous disease, and there are major differences in severity, fetal growth and poor placentation between early- and late-onset preeclampsia. Here, we examined the effect of onset period on feta... Preeclampsia is a heterogeneous disease, and there are major differences in severity, fetal growth and poor placentation between early- and late-onset preeclampsia. Here, we examined the effect of onset period on fetal and neonatal growth in preeclampsia with a cross-sectional study including 102 pregnant women with preeclampsia visited Okayama University Hospital from 2009 to 2013. The subjects were retrospectively compared in terms of body mass index (BMI), weight gain during pregnancy, complications, weeks of delivery, neonatal body weight and BMI at birth, fetal growth restriction (FGR), small for gestational age (SGA), pathological findings in the placenta, and infant’s weight at 1 month after birth. Neonatal body weight and BMI at birth were significantly lower and the extent of FGR and the frequency of SGA were higher in early-onset group compared with late-onset group. Mean daily weight gain during the neonatal period was significantly lower in the early-onset group compared with the late-onset group, however the weight gain rate during the neonatal period in the early-onset group was higher than that in late-onset group. In conclusions, there are significant differences in fetal and neonatal growth between early- and late-onset preeclampsia and the catch up for growth might start during neonatal period. 展开更多
关键词 Body Mass Index FETAL GROWTH RESTRICTION onset Period PREECLAMPSIA
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Molecular Analyses of Early-Onset Gastric Cancer in Brazilian Patients: <i>TP</i>53 Mutations, Cadherin-Catenin and Mucins Proteins Expression 被引量:1
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作者 Edaise Maria da Silva J. H. T. G. Fregnani +5 位作者 Ghyslaine Martel Wilson Luiz Costa Jr. Felipe José Fernández Coimbra Maria Isabel Waddington Achatz Pierre Hainaut Fernando Augusto Soares 《Journal of Cancer Therapy》 2013年第1期33-42,共10页
Early gastric carcinomas may develop with a molecular profile differing from sporadic carcinomas occurring at a later age. In this study, we analyzed a retrospective series of 88 patients with gastric adenocarcinoma d... Early gastric carcinomas may develop with a molecular profile differing from sporadic carcinomas occurring at a later age. In this study, we analyzed a retrospective series of 88 patients with gastric adenocarcinoma diagnosed before the age of 45 years for the presence of TP53 mutations, clinicopathological features and immunohistochemistry to evaluate the expression of markers considered to be important in gastric carcinogenesis (E-cadherin, β-catenin, MUC1, MUC2, MUC5AC, MUC6 and p53). The majority of proportion of tumors were diffuse-type (70%) and advanced stage (56%). Familial history of cancer was positive in 21% of the cases. There was a significant association between altered expression of E-cadherin and β-catenin, and between p53 expression and perineural invasion. TP53 mutations were detected in 14.5% of evaluated cases, including a germline mutation (p.R337H) in a 12-year old patient. Overall survival analysis showed significant differences in relation with tumor stage and histopathology. The evaluated biomarkers did not present prognostic value in non-exploratory multivariate analyses. The low frequency of TP53 mutations in this series suggests these alterations are not a major molecular event in gastric cancer occurring at early age, although the identification of a case with germline p.R337H mutation is consistent with the hypothesis that a small proportion of early, apparently sporadic gastric cancer, may be associated with widespread Brazilian founder mutations. Further studies are needed to evaluate the prognostic significance of markers for specific groups of patients according to tumor histology and familial history. 展开更多
关键词 early-onset Gastric Cancer Young PATIENTS Cellular Adhesion TP53 MUTATIONS
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Early-Onset Alzheimer’s Disease and Metabolic Dysfunction, a Comparative Review
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作者 Julie Anne Griffith Marie Kelly-Worden 《Advances in Alzheimer's Disease》 2018年第1期1-11,共11页
Alzheimer’s disease is quickly becoming one of the most known diseases in the country due to its devastating effects and lack of treatment options. Within this lethal disease, there is a smaller group, those individu... Alzheimer’s disease is quickly becoming one of the most known diseases in the country due to its devastating effects and lack of treatment options. Within this lethal disease, there is a smaller group, those individuals that are diagnosed with early-onset Alzheimer’s disease. It is understood that these individuals see faster effects of the disease and die considerably sooner, but it is not understood why. This review compares the early-onset (EOAD) and late-onset (LOAD) types to try and determine some of the most blaring differences between the two. The genetic basis linking EOAD and LOAD has been the apolipoprotein E gene (APOE) to indicate metabolic alteration with the &#949;4 allele specifically. The topographical atrophy disparities between EOAD and LOAD supported the more noticeable cognitive differences between the two Alzheimer’s disease categories. The faster and wider spread atrophy of EOAD patients correlates with the difficulty they experience with attention, language, visuo-spatial, and executive functions. Finally, brain metabolism differs between both AD subtypes as well, where EOAD indicates the wide spread damage and metabolic breakdown across more diverse regions of the brain. 展开更多
关键词 Alzheimer’s Disease early-onset LATE-onset Glucose Metabolism
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Mutation analysis of ATP13A2 in early-onset parkinsonism patients
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作者 Yuping Ning Hiroyuki Tomiyama +5 位作者 Yuanzhe Li Manabu Funayama Hiroyo Yoshino Shigeto Sato Yoshikuni Mizuno Nobutaka Hattori 《Neural Regeneration Research》 SCIE CAS CSCD 2008年第4期418-421,共4页
BACKGROUND: A recent study has found that ATP13A2 is the causative gene for PARK9-linked autosomal recessive early-onset parkinsonism, described previously in Jordanian and Chilean families (Kufor-Rakeb syndrome). ... BACKGROUND: A recent study has found that ATP13A2 is the causative gene for PARK9-linked autosomal recessive early-onset parkinsonism, described previously in Jordanian and Chilean families (Kufor-Rakeb syndrome). OBJECTIVE: To screen eastern Asian patients with early-onset parkinsonism for mutations in ATP13A2 and to describe positron emission tomography (PET) findings of PARK9-linked parkinsonism. DESIGN, TIME AND SETTING: In total, 117 patients were selected from the Department of Neurology, Juntendo University, from February 2003 to October 2006, for this molecular genetics and case-control study. PARTICIPANTS: The patients with parkinsonism consist of two cohorts. Ninety four patients with onset age of less than 30 years were selected for the first cohort. They included 49 males and 44 females, comprising 73 Japanese, 9 Korean, 8 Taiwan Residents, and 4 Mainland Chinese. Eleven patients had parkinsonism complicated with dementia, 15 patients had family histories of parkinsonism (including 2 families), and 5 patients were from consanguineous parents (including one family). The second cohort of 23 patients was composed of patients with consanguineous parents (n = 15) or who had affected siblings (n = 6) or both (n = 2), but the age at onset ranged from 30 to 50 years. METHODS: In 117 patients with parkinsonism, direct sequencing of ATP13A2 exons 13, 16, and 26, in which mutations had been reported previously, were performed. Sequencing was also performed in all 29 exons, including splice sites, in 28 probands who showed homozygosity at the PARK9 locus by haplotype analysis. Mutation analysis was also performed in 150 normal people. Linkage analysis was performed on all 3 parkinsonism families using short tandem repeat markers flanking the PARK9 locus. For patients who had ATP13A2 mutation, we performed brain MRI and ^18F-dopa PET scans. MAIN OUTCOME MEASURES: ATP13A2 DNA sequence, ^18F-dopa PET scan and brain MRI findings. RESULTS: A novel F182L mutation in a consanguineous Japanese family was identified. The patient was homozygous for the F182L mutation and her unaffected parents and two unaffected siblings were heterozygous for the F182L mutation. The patient developed early-onset atypical parkinsonism, which resembled the originally reported Kufor-Rakeb syndrome. MRI examination showed spinal cord atrophy and ^18F-dopa PET scan findings were similar to those of Parkinson's disease. CONCLUSION: Detection of the new PARK9 mutation, together with the previously reported cases of PARK9-linked parkinsonism, expand the clinical phenotypic spectrum of levodopa-responsive parkinsonism. 展开更多
关键词 early-onset parkinsonism MUTATION ATP13A2
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Elderly patients with very late-onset schizophrenia-like psychosis and early-onset schizophrenia: Cross-sectional and retrospective clinical findings
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作者 Caroline Girard Martine Simard 《Open Journal of Psychiatry》 2012年第4期305-316,共12页
Objectives: The aim of this study was to characterize the symptoms at onset/past and current symptoms of patients with Very Late-Onset Schizophrenia-Like Psychosis (VLOSLP;first onset of psychotic symptoms at/or after... Objectives: The aim of this study was to characterize the symptoms at onset/past and current symptoms of patients with Very Late-Onset Schizophrenia-Like Psychosis (VLOSLP;first onset of psychotic symptoms at/or after 60 years old) with those of elderly patients diagnosed with schizophrenia before the age of 40 years old (Early-Onset Schizophrenia—EOS) in order to validate the clinical nosology proposed by the International Late-Onset Schizophrenia Group. Methods: This is a between-patient comparison study with retrospective and current data taken from an historical cohort that was conducted from May/2005 to August/2008. Seventeen VLOSLP and 17 EOS were included. Schizophrenia and schizophrenia-like psychotic disorders were initially diagnosed by board-certified psychiatrists with the Diagnostic and Statistical Manual Criteria at use at onset of the disorders. Patients’ symptoms were assessed with the Scale for the Assessment of Positive Symptoms (SAPS) and the Scale for the Assessment of Negative Symptoms (SANS). The general scores on the SAPS/SANS were the primary outcomes. Results: Both groups had hallucinations and delusions at onset of the disease, but the following symptoms were more present and severe in EOS than in VLOSLP: hallucinations (p = 0.001);assiduity loss (p p = 0.001), reference (p p = 0.001) delusions. VLOSLP had mostly persecutory delusions. At current evaluation (follow-up of cohort), most patients in the two groups presented residual symptoms of anhedonia and apathy, but EOS, presented more symptoms of friendship poverty (d = 1.42, large effect size) than VLOSLP. The neuroimaging studies (when available) at follow-up demonstrated greater vascular cerebral lesions/vulnerability in VLOSLP than in EOS patients. Conclusion: This study showed that both VLOSLP and EOS had positive and negative symptoms in the past/at onset of the disease, but they were more severe in EOS than in VLOSLP. However, the positive symptoms of both groups at follow-up of the cohort (current evaluation) responded relatively well to neuroleptics. 展开更多
关键词 PSYCHOSIS Negative SYMPTOMS SCHIZOPHRENIA Very-Late-onset
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Differences in Precipitation and Related Wind Dynamics and Moisture and Heat Features in Separate Areas of the South China Sea before and after Summer Monsoon Onset
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作者 Chunyan ZHANG Donghai WANG +3 位作者 Kaifeng ZHANG Wanwen HE Yanping ZHENG Yan XU 《Advances in Atmospheric Sciences》 SCIE CAS CSCD 2024年第8期1643-1660,共18页
Using surface and balloon-sounding measurements, satellite retrievals, and ERA5 reanalysis during 2011–20, this study compares the precipitation and related wind dynamics, moisture and heat features in different area... Using surface and balloon-sounding measurements, satellite retrievals, and ERA5 reanalysis during 2011–20, this study compares the precipitation and related wind dynamics, moisture and heat features in different areas of the South China Sea(SCS) before and after SCS summer monsoon onset(SCSSMO). The rainy sea around Dongsha(hereafter simply referred to as Dongsha) near the north coast, and the rainless sea around Xisha(hereafter simply referred to as Xisha) in the western SCS, are selected as two typical research subregions. It is found that Dongsha, rather than Xisha, has an earlier and greater increase in precipitation after SCSSMO under the combined effect of strong low-level southwesterly winds, coastal terrain blocking and lifting, and northern cold air. When the 950-h Pa southwesterly winds enhance and advance northward, accompanied by strengthened moisture flux, there is a strong convergence of wind and moisture in Dongsha due to a sudden deceleration and rear-end collision of wind by coastal terrain blocking. Moist and warm advection over Dongsha enhances early and deepens up to 200 h Pa in association with the strengthened upward motion after SCSSMO, thereby providing ample moisture and heat to form strong precipitation. However, when the 950-h Pa southwesterly winds weaken and retreat southward, Xisha is located in a wind-break area where strong convergence and upward motion centers move in. The vertical moistening and heating by advection in Xisha enhance later and appear far weaker compared to that in Dongsha, consistent with later and weaker precipitation. 展开更多
关键词 Dongsha Xisha South China Sea summer monsoon onset PRECIPITATION wind dynamics MOISTURE HEAT
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C677T and A1298C gene polymorphisms and sporadic early-onset Alzheimer’s disease
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作者 Leila Mansouri Sarra Klai +2 位作者 Najiba Fekih-Mrissa Nasreddine Gritli Ridha Mrissa 《Advances in Alzheimer's Disease》 2013年第4期132-134,共3页
Alzheimer’s disease (AD) is a genetically complex and heterogeneous disorder. Although the clinical manifestations and the pathological features have been well elucidated, a clear etiology of AD is still unknown to t... Alzheimer’s disease (AD) is a genetically complex and heterogeneous disorder. Although the clinical manifestations and the pathological features have been well elucidated, a clear etiology of AD is still unknown to this day. In the past few decades, investigations have elucidated that both the genetic and the environmental factors are capable of causing the development of AD. We report a patient with clinically diagnosed earlyonset Alzheimer's disease, age of onset 45 years. Genetic analysis revealed two MTHFR heterozygous polymorphisms C677T and A1298C. 展开更多
关键词 A1298C MTHFR MUTATION C677T MTHFR MUTATION early-onset Alzheimer
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Caring for Individuals with Early-Onset Dementia and Their Family Caregivers: The Perspective of Health Care Professionals
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作者 Francine Ducharme Marie-Jeanne Kergoat +2 位作者 Pascal Antoine Florence Pasquier Renée Coulombe 《Advances in Alzheimer's Disease》 2014年第1期33-43,共11页
The phenomenon of early-onset dementia remains an under-researched subject from the perspective of health care professionals. The aim of this qualitative study was to document the experiences and service needs of pati... The phenomenon of early-onset dementia remains an under-researched subject from the perspective of health care professionals. The aim of this qualitative study was to document the experiences and service needs of patients and their family caregivers for optimal clinical management of early-onset dementia from the perspective of health care professionals. A sample of 13 health care professionals from various disciplines, who worked with individuals who suffered from Alzheimer’s disease or related disorders and their family caregivers, took part in focus groups or semi-structured individual interviews, based on a life course perspective. Three recurrent themes emerged from the data collected from health care professionals and are related to: 1) identification with the difficult experiences of caregivers and powerlessness in view of the lack of services;2) gaps in the care and services offered, including the lack of clinical tools to ensure that patients under age 65 were diagnosed and received follow-up care, and 3) solutions for care and services that were tailored to the needs of the caregiver-patient dyads and health care professionals, the most important being that the residual abilities of younger patients be taken into account, that flexible forms of respite be offered to family caregivers and that training be provided to health care professionals. The results of this study provided some innovative guidelines for optimal clinical management of early-onset dementia in terms of the caregiver-patient dyad. 展开更多
关键词 early-onset DEMENTIA Family CAREGIVERS PERSPECTIVE of Health Care PROFESSIONALS Service Needs
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The way early-onset chronically depressed patients are treated today makes me sad
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作者 James P. McCullough 《Open Journal of Psychiatry》 2012年第1期9-11,共3页
The author has treated almost 400 chronically depressed outpatients during his career. He has also participated as a Field Trial Coordinator in the Unipolar Field Trials of DSM-IV and consulted with the DSM-V Mood Dis... The author has treated almost 400 chronically depressed outpatients during his career. He has also participated as a Field Trial Coordinator in the Unipolar Field Trials of DSM-IV and consulted with the DSM-V Mood Disorders Workgroup concerning his research for the new diagnostic nomenclature for the chronic depressions, Chronic Depression Disorder. In addition, he has served as Principal Investigator in several large clinical trials involving 2200 chronically depressed outpatients. The current paper is a Brief Report describing his negative reactions to the way 40 of his chronically depressed patients have been treated today by both Psychologists and Psychiatrists. All the patients are his patients and have been seen by him in psychotherapy over the past decade. Several reasons are proposed for the inadequate treatment and specific proposals are made for the improvement of treatment for the early-onset chronically depressed patient. 展开更多
关键词 CBASP PSYCHOTHERAPY DSM-V CHRONIC DEPRESSION Disorder Combination Treatment early-onset CHRONIC DEPRESSION
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CBASP Adapted to Child Play Therapy Structure to Prevent Early-Onset Persistent Depressive Disorder
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作者 James P. McCullough Jr. Kara Elizabeth Burr 《Open Journal of Psychiatry》 2022年第1期53-72,共20页
The current paper is a <em>theoretical proposal</em> that interfaces the Cognitive Behavioral Analysis System of Psychotherapy (CBASP) and its emphasis on interpersonal consequences with the structured ord... The current paper is a <em>theoretical proposal</em> that interfaces the Cognitive Behavioral Analysis System of Psychotherapy (CBASP) and its emphasis on interpersonal consequences with the structured order of a Play Therapy Model for troubled 3 - 8-year-old children. This proposal is not a research paper or a review of literature;instead, it is a treatment proposal that is novel and untested. CBASP psychotherapy, an empirically validated treatment, was developed originally to treat the persistently depressed adult. CBASP’s major focus of interpersonal consequation will be interfaced with a Play Therapy structured model to rectify the maladaptive preoperational functioning of five interpersonal types of problem-children. The types are classified interpersonally using D.J. Kiesler’s Interpersonal Message Inventory (IMI). Kiesler’s IMI is employed in this proposal as an ongoing assessment modality, a source of information to make treatment strategy consequation decisions, and thirdly as an evaluative outcome variable. The troubled child types described herein frequently become candidates for early-onset Persistent Depressive Disorder (PDD) unless rescued by successful treatment. The origins of early-onset PDD arise in dysfunctional households where toxic interpersonal relationships predominate: where “survival from abuse,” not growth, describes the child’s modal developmental experiences. These children are often exposed to either <em>serious traumas</em> (e.g., sexual abuse, loss of a parent, physical abuse, physical or emotional neglect) or <em>psychological insults</em> (e.g., continuous, and chronic verbal and nonverbal abuse). The result, in the most serious cases, is a maturational stunting at the preoperational stage of development which, as noted above, if not successfully resolved, thrusts the child into early-onset PDD. 展开更多
关键词 Play Therapy early-onset Persistent Depressive Disorder CBASP Psychotherapy Preoperational Functioning Impact Message Inventory Interpersonal Circle
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