首页 > 最新文献

Medicina-buenos Aires最新文献

英文 中文
[Falls in hospitalized elderly people: characterization and incumbency of polypharmacy and inappropriate prescription of medications]. [住院老年人跌倒:多药和不当用药的特征和现状]。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01
Ana Fajreldines, Marcelo Pellizzari

Introduction: Falls in the elderly are a frequent phenomenon during hospitalization and are preventable adverse events. Falls could cause serious injuries in this vulnerable patient population and also lead to poor health outcomes such as increased morbidity, mortality and healthcare costs. The objective of this study is to characterize falls in hospitalized elderly people and analyze the implication of polypharmacy and inappropriate prescription of medications in a University Hospital in Argentina.

Materials and methods: Descriptive, observational, retrospective study.

Results: A sampling 226 patients was taken, the mean age was 74.7 SD: 12.9, range 69-91. The total number of falls was 237 (9 patients suffered more than one fall). Falls are associated with several factors including polypharmacy, cognitive status, advanced age, female sex, and inappropriate prescription of medications.

Discussion: Incidents of falls are frequent, preventable and multi-causal. Some factors such as polypharmacy, cognitive impairment, among others, would be associated with its occurrence; the published literature confirms these concepts.

老年人跌倒是住院期间的常见现象,是可预防的不良事件。跌倒可能会对这一脆弱的患者群体造成严重伤害,还会导致不良的健康结果,如发病率、死亡率和医疗费用的增加。本研究的目的是表征住院老年人跌倒,并分析阿根廷一所大学医院的多药和不适当的药物处方的含义。材料与方法:描述性、观察性、回顾性研究。结果:本组226例患者,平均年龄74.7岁,SD: 12.9,范围69 ~ 91岁。共跌倒237次(9例跌倒以上)。跌倒与多种因素有关,包括多种药物、认知状况、高龄、女性和不适当的药物处方。讨论:跌倒事件是经常发生的、可预防的和多原因的。一些因素,如多药、认知障碍等,可能与其发生有关;已发表的文献证实了这些概念。
{"title":"[Falls in hospitalized elderly people: characterization and incumbency of polypharmacy and inappropriate prescription of medications].","authors":"Ana Fajreldines, Marcelo Pellizzari","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Falls in the elderly are a frequent phenomenon during hospitalization and are preventable adverse events. Falls could cause serious injuries in this vulnerable patient population and also lead to poor health outcomes such as increased morbidity, mortality and healthcare costs. The objective of this study is to characterize falls in hospitalized elderly people and analyze the implication of polypharmacy and inappropriate prescription of medications in a University Hospital in Argentina.</p><p><strong>Materials and methods: </strong>Descriptive, observational, retrospective study.</p><p><strong>Results: </strong>A sampling 226 patients was taken, the mean age was 74.7 SD: 12.9, range 69-91. The total number of falls was 237 (9 patients suffered more than one fall). Falls are associated with several factors including polypharmacy, cognitive status, advanced age, female sex, and inappropriate prescription of medications.</p><p><strong>Discussion: </strong>Incidents of falls are frequent, preventable and multi-causal. Some factors such as polypharmacy, cognitive impairment, among others, would be associated with its occurrence; the published literature confirms these concepts.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 3","pages":"543-549"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Are patient registries necessary? The example of the Argentine Bronchiectasis Registry]. 病人登记是必要的吗?阿根廷支气管扩张登记的例子]。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01
Miguel Penizzotto, Carlos S Wustten, Ana M López, Vanesa Abrate, Sergio Arias, Miguel Ángel Martínez-García
{"title":"[Are patient registries necessary? The example of the Argentine Bronchiectasis Registry].","authors":"Miguel Penizzotto, Carlos S Wustten, Ana M López, Vanesa Abrate, Sergio Arias, Miguel Ángel Martínez-García","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 4","pages":"885-887"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144821960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Mild autonomic cortisol secretion: comorbidities and surgical treatment outcomes]. 轻度自主皮质醇分泌:合并症和手术治疗结果。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01
M Soledad Capalbo, Natalia Deligiannis, Karina Danilowicz

"Mild autonomous cortisol secretion" is present in up to one-third of patients with adrenal incidentalomas and is characterized by excessive cortisol production without the typical clinical signs of Cushing's syndrome. Due to the lack of typical symptoms, biochemical evaluation is essential for diagnosis, as chronic cortisol secretion has been linked to multiple comorbidities (hypertension, diabetes, metabolic syndrome, dyslipidemia and osteoporosis) as well as increased mortality. While numerous studies address the comorbidities associated with autonomous cortisol secretion and its clinical impact, the indication for surgery remains uncertain and controversial; currently, no guidelines provide precise recommendations for surgical treatment in these patients. However, the few studies reported in the literature suggest an improvement in the cardiometabolic profile after adrenalectomy.

多达三分之一的肾上腺偶发瘤患者存在“轻度自主皮质醇分泌”,其特征是皮质醇分泌过多,没有库欣综合征的典型临床症状。由于缺乏典型症状,生化评估对诊断至关重要,因为慢性皮质醇分泌与多种合并症(高血压、糖尿病、代谢综合征、血脂异常和骨质疏松症)以及死亡率增加有关。虽然许多研究解决了与自主皮质醇分泌相关的合并症及其临床影响,但手术指征仍然不确定和有争议;目前,尚无指南对此类患者的手术治疗提供精确的建议。然而,文献中报道的少数研究表明肾上腺切除术后心脏代谢谱有所改善。
{"title":"[Mild autonomic cortisol secretion: comorbidities and surgical treatment outcomes].","authors":"M Soledad Capalbo, Natalia Deligiannis, Karina Danilowicz","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>\"Mild autonomous cortisol secretion\" is present in up to one-third of patients with adrenal incidentalomas and is characterized by excessive cortisol production without the typical clinical signs of Cushing's syndrome. Due to the lack of typical symptoms, biochemical evaluation is essential for diagnosis, as chronic cortisol secretion has been linked to multiple comorbidities (hypertension, diabetes, metabolic syndrome, dyslipidemia and osteoporosis) as well as increased mortality. While numerous studies address the comorbidities associated with autonomous cortisol secretion and its clinical impact, the indication for surgery remains uncertain and controversial; currently, no guidelines provide precise recommendations for surgical treatment in these patients. However, the few studies reported in the literature suggest an improvement in the cardiometabolic profile after adrenalectomy.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 6","pages":"1326-1336"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145635553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Extensive cerebral venous sinus thrombosis. 广泛脑静脉窦血栓形成。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01
Tomás González Mintrone, Gastón Ejdin, Micaela Czikk, M Dolores Silveyra, Silvia Hernández, Paola Finocchietto
{"title":"Extensive cerebral venous sinus thrombosis.","authors":"Tomás González Mintrone, Gastón Ejdin, Micaela Czikk, M Dolores Silveyra, Silvia Hernández, Paola Finocchietto","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 6","pages":"1424"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145635547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Pneumococcal disease without apparent pulmonary involvement]. [无明显肺部受累的肺炎球菌病]。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01
Sofía Solano, Ayelen Arcangeli, Belén Murillo Echegaray, Paola Huerta, Verónica Falabella, Andrés Vilela, Clara Ramírez, Estela Gómez, Fernando Ross

Spinal epidural abscess (SEA) is a classically monomicrobial infection most commonly caused by Staphylococcus aureus (∼65%), followed by Gram-negative bacilli (∼16%), and less frequently by Gram-positive diplococci such as Streptococcus pneumoniae (∼7%), which typically reach the epidural space hematogenously from another focus, mainly respiratory. SEA can originate from hematogenous seeding or direct inoculation, and in approximately one-third of cases, the source of infection cannot be identified. We present a clinical case of SEA associated with pneumococcal bacteremia. A 65-year-old woman with no relevant medical history presented with a 48-hour history of right-sided lower back pain, rendering her unable to sit or stand, with radiation to the thigh and associated fever. A contrast-enhanced magnetic resonance imaging of the spine revealed 5 and 6 mm collections in the posterior epidural space at the L4 and L5 levels. Blood cultures grew multi-sensitive S. pneumoniae, prompting initiation of antibiotic therapy with good clinical response. The traumatology team assessed the patient and obtained a sample from the larger collection, which also yielded the same pathogen. Isolated pneumococcal spinal infection is a rare but extremely serious condition, with a mortality rate exceeding 20%, and can lead to significant neurological consequences if not managed through a multidisciplinary approach involving broad-spectrum antibiotics and, in some cases, surgical intervention.

脊髓硬膜外脓肿(SEA)是一种典型的单菌感染,最常由金黄色葡萄球菌(~ 65%)引起,其次是革兰氏阴性杆菌(~ 16%),较少由革兰氏阳性双球菌(如肺炎链球菌)引起(~ 7%),通常从另一个部位(主要是呼吸道)出血到达硬膜外间隙。SEA可起源于血液播种或直接接种,在大约三分之一的病例中,无法确定感染源。我们报告一例与肺炎球菌菌血症相关的SEA临床病例。65岁女性,无相关病史,48小时右侧下背部疼痛,无法坐下或站立,大腿放射并伴有发热。脊柱磁共振造影显示在L4和L5水平的硬膜外后间隙有5和6毫米的收藏品。血培养培养出多敏感肺炎链球菌,促使开始抗生素治疗,临床反应良好。创伤学小组对患者进行了评估,并从更大的收集中获得了样本,也产生了相同的病原体。孤立性肺炎球菌脊柱感染是一种罕见但极其严重的疾病,死亡率超过20%,如果不通过包括广谱抗生素在内的多学科方法进行治疗,并在某些情况下进行手术干预,可能导致严重的神经系统后果。
{"title":"[Pneumococcal disease without apparent pulmonary involvement].","authors":"Sofía Solano, Ayelen Arcangeli, Belén Murillo Echegaray, Paola Huerta, Verónica Falabella, Andrés Vilela, Clara Ramírez, Estela Gómez, Fernando Ross","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Spinal epidural abscess (SEA) is a classically monomicrobial infection most commonly caused by Staphylococcus aureus (∼65%), followed by Gram-negative bacilli (∼16%), and less frequently by Gram-positive diplococci such as Streptococcus pneumoniae (∼7%), which typically reach the epidural space hematogenously from another focus, mainly respiratory. SEA can originate from hematogenous seeding or direct inoculation, and in approximately one-third of cases, the source of infection cannot be identified. We present a clinical case of SEA associated with pneumococcal bacteremia. A 65-year-old woman with no relevant medical history presented with a 48-hour history of right-sided lower back pain, rendering her unable to sit or stand, with radiation to the thigh and associated fever. A contrast-enhanced magnetic resonance imaging of the spine revealed 5 and 6 mm collections in the posterior epidural space at the L4 and L5 levels. Blood cultures grew multi-sensitive S. pneumoniae, prompting initiation of antibiotic therapy with good clinical response. The traumatology team assessed the patient and obtained a sample from the larger collection, which also yielded the same pathogen. Isolated pneumococcal spinal infection is a rare but extremely serious condition, with a mortality rate exceeding 20%, and can lead to significant neurological consequences if not managed through a multidisciplinary approach involving broad-spectrum antibiotics and, in some cases, surgical intervention.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 6","pages":"1386-1390"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145635569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Regional and sex variations in mortality from chronic kidney disease in Argentina (2017-2019)]. [阿根廷慢性肾病死亡率的地区和性别差异(2017-2019年)]。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01
María Lourdes Aparicio, Marcela Canale, Mariana N Carrillo, María Del Pilar Diaz, Mariana Butinof

Introduction: Chronic kidney disease (CKD) represents a growing health burden, with insufficient epidemiological evidence. The objective was to characterize the spatial distribution of CKD mortality in Argentina by sex, age group, and regions.

Materials and methods: Crude mortality rates (CMR), age-standardized mortality rates (ASMR), and age-specific mortality rates for CKD (ICD-10: N18) were calculated per 100 000 inhabitants for Argentina's 511 departments, grouped by geographic regions and stratified by sex; period 2017-2019. Mortality rates (MR) were represented in choropleth maps at the departmental level. Rates were compared by sex, and regional effects were evaluated by fitting a generalized Poisson regression model. Spatial autocorrelation was assessed using Moran's global index. A ratio between departmental ASMR and the national average was calculated, categorizing departments by percentiles (=P25, P25-average, average-P90, =P90), sex, and total population.

Results: A total of 10 850 CKD deaths were registered in Argentina (54% among males), with CMR and ASMR of 8.4 (95% CI: 7.8-9.1) and 9.2 (95% CI: 8.5-10.0) per 100 000 inhabitants, respectively. At the regional level, significantly different patterns were observed, with higher MR in males and a marked increase in mortality after the age of 60. Mortality rates showed spatial autocorrelation, with high mortality burdens in the northwest and southern regions of the country.

Discussion: Spatial clustering patterns in CKD mortality were identified in Argentina. The findings highlight the need for health policies that integrate sex- and region-specific approaches to reduce the burden of this disease with equity-based criteria.

慢性肾脏疾病(CKD)是一种日益严重的健康负担,但流行病学证据不足。目的是描述阿根廷按性别、年龄组和地区划分的CKD死亡率的空间分布。材料和方法:计算阿根廷511个省每10万居民的CKD粗死亡率(CMR)、年龄标准化死亡率(ASMR)和年龄特异性死亡率(ICD-10: N18),按地理区域分组,按性别分层;2017 - 2019年期间。死亡率(MR)在省一级的地形图中表示。按性别比较发病率,并通过拟合广义泊松回归模型评估区域效应。使用Moran’s global index评估空间自相关性。计算各部门ASMR与全国平均水平的比值,按百分位数(=P25, P25-average, average-P90, =P90)、性别和总人口对各部门进行分类。结果:阿根廷共登记了10850例CKD死亡(54%为男性),CMR和ASMR分别为每10万居民8.4例(95% CI: 7.8-9.1)和9.2例(95% CI: 8.5-10.0)。在区域一级,观察到明显不同的模式,男性的MR较高,60岁以后的死亡率显著增加。死亡率呈空间自相关,西北和南部地区死亡率负担较高。讨论:在阿根廷确定了CKD死亡率的空间聚类模式。研究结果强调需要制定卫生政策,将针对特定性别和区域的方法与基于公平的标准结合起来,以减轻这种疾病的负担。
{"title":"[Regional and sex variations in mortality from chronic kidney disease in Argentina (2017-2019)].","authors":"María Lourdes Aparicio, Marcela Canale, Mariana N Carrillo, María Del Pilar Diaz, Mariana Butinof","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Chronic kidney disease (CKD) represents a growing health burden, with insufficient epidemiological evidence. The objective was to characterize the spatial distribution of CKD mortality in Argentina by sex, age group, and regions.</p><p><strong>Materials and methods: </strong>Crude mortality rates (CMR), age-standardized mortality rates (ASMR), and age-specific mortality rates for CKD (ICD-10: N18) were calculated per 100 000 inhabitants for Argentina's 511 departments, grouped by geographic regions and stratified by sex; period 2017-2019. Mortality rates (MR) were represented in choropleth maps at the departmental level. Rates were compared by sex, and regional effects were evaluated by fitting a generalized Poisson regression model. Spatial autocorrelation was assessed using Moran's global index. A ratio between departmental ASMR and the national average was calculated, categorizing departments by percentiles (=P25, P25-average, average-P90, =P90), sex, and total population.</p><p><strong>Results: </strong>A total of 10 850 CKD deaths were registered in Argentina (54% among males), with CMR and ASMR of 8.4 (95% CI: 7.8-9.1) and 9.2 (95% CI: 8.5-10.0) per 100 000 inhabitants, respectively. At the regional level, significantly different patterns were observed, with higher MR in males and a marked increase in mortality after the age of 60. Mortality rates showed spatial autocorrelation, with high mortality burdens in the northwest and southern regions of the country.</p><p><strong>Discussion: </strong>Spatial clustering patterns in CKD mortality were identified in Argentina. The findings highlight the need for health policies that integrate sex- and region-specific approaches to reduce the burden of this disease with equity-based criteria.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 5","pages":"948-959"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145318547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Marr and Albus, half a century of the artificial cerebellum]. [马尔和阿不思,人造小脑的半个世纪]。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01
Basilio A Kotsias
{"title":"[Marr and Albus, half a century of the artificial cerebellum].","authors":"Basilio A Kotsias","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 5","pages":"1171-1173"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145318542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tuberculosis: an open wound in Argentinian public health. 结核病:阿根廷公共卫生的开放性伤口。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01
Domingo Palmero, Isabel N Kantor
{"title":"Tuberculosis: an open wound in Argentinian public health.","authors":"Domingo Palmero, Isabel N Kantor","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 5","pages":"1108-1109"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145318563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Can narrative medicine help us?] 叙事医学能帮助我们吗?]
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01
Carlos Tajer, Gustavo Kusminsky
{"title":"[Can narrative medicine help us?]","authors":"Carlos Tajer, Gustavo Kusminsky","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 1","pages":"260"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Lesch-Nyhan syndrome in dizygotic twins]. [异卵双胞胎的Lesch-Nyhan综合征]。
IF 0.6 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2025-01-01
Rocío V García, Norma Specola, Paula Ivarola, Roberto Caraballo

Lesch-Nyhan syndrome is an inborn error of purine metabolism caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase, with X-linked inheritance. At present, there are a few cases available in the international literature of twins with this condition. The object of this publication is to report the case of two twins with Lesch-Nyhan syndrome and to describe the clinical and therapeutic management. We present two dizygotic 10-year-old twins, with global developmental delay and nephrolithiasis, who developed dystonia and self-mutilation. The diagnosis was suspected due to the developmental delay associated with dystonia and hyperuricemia in two male patients, as in most of these patients. It was confirmed with the measurement of enzymatic activity, being undetectable. They required multiple therapeutic schemes, including extraction of teeth and restraint measures to avoid major injuries.

Lesch-Nyhan综合征是一种由次黄嘌呤-鸟嘌呤磷酸核糖基转移酶缺乏引起的先天性嘌呤代谢错误,具有x连锁遗传。目前,在国际文献中有少数双胞胎患有这种疾病的病例。本出版物的目的是报告两例双胞胎Lesch-Nyhan综合征,并描述临床和治疗管理。我们提出了两个10岁的异卵双胞胎,整体发育迟缓和肾结石,发展成肌张力障碍和自残。由于两名男性患者与大多数患者一样,与肌张力障碍和高尿酸血症相关的发育迟缓,因此怀疑诊断。用酶活性的测量证实了这一点,但检测不到。他们需要多种治疗方案,包括拔牙和约束措施,以避免严重伤害。
{"title":"[Lesch-Nyhan syndrome in dizygotic twins].","authors":"Rocío V García, Norma Specola, Paula Ivarola, Roberto Caraballo","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Lesch-Nyhan syndrome is an inborn error of purine metabolism caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase, with X-linked inheritance. At present, there are a few cases available in the international literature of twins with this condition. The object of this publication is to report the case of two twins with Lesch-Nyhan syndrome and to describe the clinical and therapeutic management. We present two dizygotic 10-year-old twins, with global developmental delay and nephrolithiasis, who developed dystonia and self-mutilation. The diagnosis was suspected due to the developmental delay associated with dystonia and hyperuricemia in two male patients, as in most of these patients. It was confirmed with the measurement of enzymatic activity, being undetectable. They required multiple therapeutic schemes, including extraction of teeth and restraint measures to avoid major injuries.</p>","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"85 2","pages":"445-448"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Medicina-buenos Aires
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1