Clinical case reports and reviews最新文献_第3页

Study of new energy-based noninvasive therapies for nonalcoholic fatty liver disease 基于能量的非酒精性脂肪肝无创治疗新方法的研究

Clinical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/CCRR.1000500

Miachon, Chavantes Mc

引用次数: 0

Clinical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/ccrr.1000509

H. Matsuno

引用次数: 0

Progressive cavitational leukoencephalopathy: An enigma 进行性空泡性脑白质病:一个谜

Clinical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/CCRR.1000497

García Divahia, Martínez-Lizaga Natalia, Lanau Sara, Espinosa Eugenia

{"title":"Progressive cavitational leukoencephalopathy: An enigma","authors":"García Divahia, Martínez-Lizaga Natalia, Lanau Sara, Espinosa Eugenia","doi":"10.15761/CCRR.1000497","DOIUrl":"https://doi.org/10.15761/CCRR.1000497","url":null,"abstract":"from rapidly progressive deterioration to long periods of clinical stability; in newborns it causes severe neurological and systemic alterations, including seizures, hypotonia, growth retardation, lactic acidosis and respiratory failure [4]. Given the non-specific neurological symptoms and neuroimaging features, a differential diagnosis with infections or immunological conditions that involve the CNS is essential, an important finding Abstract Introduction: Progressive cavitational leukoencephalopathy (PCL) is a recently described pathology, with few cases reported in the world literature. It is characterized by progressive neurological deterioration and characteristic neuroimaging findings, which distinguish this disorder as a unique entity given the massive cystic degeneration . Patients and methods: A case of a female infant with regression of motor skills and speech is described at 27 months, followed by progressive neurological deterioration during the following year. Results: In cranial MR findings, white matter compromise and cystic degeneration with contrast enhancement were observed, along with a brain MRS with double negative lactate spikes. Enzymatic study of leukodystrophies, genetic panel for leukodystrophies, and negative mitochondrial exome. Conclusions: Due to the progressive form of the disease and paraclinical criteria, it is concluded that the patient meets the diagnostic criteria for PCL. This entity does not have treatment; only supportive care is available. The prognosis is fatal, with an average life of up to 14 years in the case studies described.","PeriodicalId":72607,"journal":{"name":"Clinical case reports and reviews","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67448885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An Infant with Sandhoff disease: A case report 婴儿桑德霍夫病1例

Clinical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/ccrr.1000506

Z. Sabzi, N. Abkari, Seraj aldin Arefnia

引用次数: 0

Enterocolitis with fulminate sepsis in a newborn with tricho-hepato-enteric syndrome: A case report 新生儿肠结肠炎伴暴发性败血症合并tricho-肝-肠综合征1例报告

Clinical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/CCRR.1000498

D. Lorant, K. Kua

{"title":"Enterocolitis with fulminate sepsis in a newborn with tricho-hepato-enteric syndrome: A case report","authors":"D. Lorant, K. Kua","doi":"10.15761/CCRR.1000498","DOIUrl":"https://doi.org/10.15761/CCRR.1000498","url":null,"abstract":"Tricho-hepato-enteric syndrome is a rare autosomal recessive enteropathy that first presents as intractable diarrhea in neonates. Diarrhea persists throughout life and patients are dependent on parenteral nutrition for growth. Additional features include facial dysmorphism, trichorrhexis nodosa (woolly hair), intra-uterine growth restriction, hepatic disease, skin anomalies and a depressed immune system. Tricho-hepato-enteric syndrome is a life limiting disease with variability in its manifestations and severity. Mutations in two different genes, TTC37 or SKIV2L , cause the disorder. In this case report we present a neonate with a novel mutation in TTC37 that resulted in a severe phenotype associated with fulminate sepsis. The infant presented at one week of age with sudden onset of diarrhea and dehydration. Tricho-hepato-enteric syndrome was diagnosed by whole exome sequencing but was not initially considered because the infant lacked many of the diagnostic clinical features. Soon after presentation, the infant developed pneumoperitoneum and necrosis of entire bowel. The blood culture was positive for Clostridium perfringens. Autopsy showed bacteria in the parenchyma and vasculature of all major internal organs as well as within the bone marrow, connective tissue and skeletal muscle but there was minimal inflammatory response. The lack of migration of white blood cells to the sites of infection is likely due to the combined immunodeficiency reported in patients with tricho-hepato-enteric","PeriodicalId":72607,"journal":{"name":"Clinical case reports and reviews","volume":"26 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67449035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Biomarkers in early colorectal, esophageal, and gastric cancer 早期结直肠癌、食管癌和胃癌的生物标志物

Clinical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/ccrr.1000508

P. García-Alfonso, G. T. Pérez-Solero, J. Soto Alsar, A. M. Muñoz Martín, J. Parrondo

引用次数: 1

An antioxidant approach directed to non-healing wounds activation - A case report study 一种针对未愈合伤口激活的抗氧化剂方法-一个病例报告研究

Clinical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/CCRR.1000499

J. F. Jiménez-García, G. Aguilera-Manrique, Laura Parra-Anguita, J. Torra-Bou, Irene Villegas-Tripiana, F. P. García-Fernández

{"title":"An antioxidant approach directed to non-healing wounds activation - A case report study","authors":"J. F. Jiménez-García, G. Aguilera-Manrique, Laura Parra-Anguita, J. Torra-Bou, Irene Villegas-Tripiana, F. P. García-Fernández","doi":"10.15761/CCRR.1000499","DOIUrl":"https://doi.org/10.15761/CCRR.1000499","url":null,"abstract":"It is well known that oxidative stress is a pathologic condition that compromises wound evolution, contributing to inflammatory environment maintaining and wound healing stagnation. This condition specially affects to aged people and to patients with important comorbidities, whereby healing capabilities are significantly impaired. In this work, a new therapeutic approach through a new antioxidant technology with natural components has been applied, in order to manage the oxidative stress, in 31 patients with complex chronic wounds of different etiologies, attended to the Sanitary West District in Almería (Spain). Wound assessments were performed at 4, 8 and 12 weeks and main endpoints included the evolution of wound healing (% of healing rate and Resvech 2.0 score) and pain relief. The treatment with antioxidant dressing produced a significant decrease of RESVECH 2.0 of 37.28%, 58.52% and 67.8% at 4, 8 and 12 weeks respectively and during the 12 week follow-up, 16/31 wounds totally healed (50%). In addition, a decrease in pain and biofilm presence in wounds were observed. In conclusion, the analyzed antioxidant approach could be a new therapeutic strategy directed to overcome the inflammatory phase in complex wounds and allow the progression over the healing process.","PeriodicalId":72607,"journal":{"name":"Clinical case reports and reviews","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67449265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Gastrointestinal symptom and stress recall survey in frontline healthcare workers after consumption of a combined quebracho/conker tree/M. balsamea willd extract during the COVID-19 pandemic 一线医护人员食用桂树/椰子树/枇杷膏后胃肠道症状及应激回忆调查在COVID-19大流行期间，凤仙花将提取

Clinical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/CCRR.1000502

K. Brown, Brandi Scott-Hoy, B. Burnett

引用次数: 0

A rare cause of agranulocytosis 粒细胞缺乏症的罕见病因

Clinical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/CCRR.1000501

H. Luís, C. Barros, M. Fernandes, S. Granito

引用次数: 0

Management of knotted ureteral stent: A case report and comprehensive review of literature 输尿管支架打结的处理:1例报告及文献综合复习

Clinical case reports and reviews Pub Date : 2021-01-01 DOI: 10.15761/ccrr.1000507

Z. Choo, Seok Kwan Felicia Hong, Yee Mun Lee

引用次数: 1