Medicina-buenos Aires最新文献_第6页

[Autism spectrum disorder: a functional approach to development]. [自闭症谱系障碍：发展的功能性方法]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-01-01

Silvana B Napoli, María P Vitale, María G Urinovsky, Juan J López Luro, Bárbara Gouguenheim, María P Fassero, Juan P Molina, Lucía Bujan, Paula Pedernera Bradichansky, Celina Lejarraga, Emanuel Bellantonio, Anabella Escalante, María B Micheletti, Laura Rodriguez, Fernando Russo, José Argento, Nadia Wieczorko, Pablo Cafiero

{"title":"[Autism spectrum disorder: a functional approach to development].","authors":"Silvana B Napoli, María P Vitale, María G Urinovsky, Juan J López Luro, Bárbara Gouguenheim, María P Fassero, Juan P Molina, Lucía Bujan, Paula Pedernera Bradichansky, Celina Lejarraga, Emanuel Bellantonio, Anabella Escalante, María B Micheletti, Laura Rodriguez, Fernando Russo, José Argento, Nadia Wieczorko, Pablo Cafiero","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Children and adolescents with autism spectrum disorder (ASD) exhibit diverse functioning and share challenges in social communication and repetitive behaviors. Diagnostic classifications do not fully capture their daily strengths and limitations, making functional assessments essential. The International Classification of Functioning, Disability and Health (ICF) highlights activities and participation as fundamental aspects to describe health conditions. TEA-CIFunciona, an ICF based tool, standardizes functional assessment and defines intervention goals for children with ASD in Argentina. This study aims to: 1) describe the functioning of children with ASD across age-based groups and 2) compare functional needs and intervention goals within each subgroup.Materials and methods: TEA-CIFunciona was administered in follow-up consultations of children under 16 years of age with a confirmed ASD diagnosis, from 2019 to October 2024.Results: The functional profile of a sample of 497 children and adolescents was established. Functional categories (activities, participation and contextual factors) were compared between two age subgroups.Discussion: TEA-CIFunciona facilitated the functional assessment, the systematization of data collection necessary to adapt the follow-up of children and adolescents with ASD at national level. It also enabled the identification of individual and group intervention objectives.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 1","pages":"44-59"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146125198","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

[Analysis of a population of patients with hip fracture in Argentina]. [阿根廷髋部骨折患者人群分析]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-01-01

María Cecilia Tibaldo, Mariana González Pernas, Vanesa Longobardi, Sergio Giordano, Emanuel J Saad, María Belén Zanchetta

{"title":"[Analysis of a population of patients with hip fracture in Argentina].","authors":"María Cecilia Tibaldo, Mariana González Pernas, Vanesa Longobardi, Sergio Giordano, Emanuel J Saad, María Belén Zanchetta","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: In older adults, hip fracture (HF) is one of the main clinical consequences of osteoporosis. The objective of this study was to describe the clinical characteristics, biochemical parameters of bone metabolism, and densitometric findings in patients with fragilityrelated HF evaluated in a specialized center.Materials and methods: We conducted a retrospective descriptive study of patients over 18 years old diagnosed with fragility-related HF and evaluated at the Metabolic Research Institute in Buenos Aires between 2012 and 2022. Patients with fractures secondary to neoplasms, traffic accidents, or atypical femoral fractures were excluded.Results: Eighty patients were included, of whom 77 (96.3%) were women. The median age was 73 years (IQR 66-80). The most frequent fracture site was the femoral neck (74/80; 92.5%). Thirty-one patients (38.8%) had a history of previous fractures, and 20/31 (64.5%) had more than one. Bone densitometry was performed in 62/80 patients (77.5%) at trabecular sites, showing osteoporosis in 26/62 (41.9%) and osteopenia in 23/62 (37.1%), and in 54/80 (67.5%) at cortical sites, showing osteoporosis in 27/54 (50%) and osteopenia in 26/54 (48.1%). Forty-four patients (55%) had previously received osteoporosis treatment, and 17/80 (21.3%) were on active treatment at the time of the fracture. The median duration of prior bisphosphonate use was 44.7 months (IQR 13.5-60).Conclusion: Most patients with HF were older women. Among those who had undergone prior bone densitometry, half had osteoporosis, and approximately one-third were receiving active pharmacological treatment at the time of the fracture.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 2","pages":"360-369"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147654405","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

[Pulmonary cryptococcosis in a non-HIV patient]. [非hiv患者的肺隐球菌病]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-01-01

Alejandro Avilés-Salas, Manuel A Gonzalez-Adame, Irene González-Nava, Carolina Pérez-Jiménez, Oscar Arrieta

{"title":"[Pulmonary cryptococcosis in a non-HIV patient].","authors":"Alejandro Avilés-Salas, Manuel A Gonzalez-Adame, Irene González-Nava, Carolina Pérez-Jiménez, Oscar Arrieta","doi":"","DOIUrl":"","url":null,"abstract":"Cryptococcosis is an opportunistic and conditional disease. The lungs and central nervous system are common organs invaded by Cryptococcus. Most patients with pulmonary cryptococcosis are immunocompromised, such as acquired immune deficiency síndrome, subjects with immunosupressive drugs and hematological malignancies. We present an immunocompetent 46-year-old man with diabetes mellitus, who had cough, chest pain and weight loss. Computed tomography of thorax demonstrated a pulmonary nodule in the right upper lobe, measuring 8.5 cm. To confirm the diagnosis, the patient underwent CT-guided biopsy of the nodule. Pathology revealed round structures with asymmetric budding on Periodic acid-Schiff-diastase, Grocott methenamine silver and mucicarmine stains, morphologically compatible with Cryptococcus sp. Serum cryptococcal antigen was positive. Once the diagnosis of isolated pulmonary cryptococcosis was confirmed, the patient was treated with oral fluconazole 400 mg daily for 6 months. The treatment response was categorized as partial resolution, and the patient underwent a right upper lobectomy. Pulmonary cryptococcosis in non-HIV patients is a relatively common, and in some of them is difficult to differentiate from lung cancer.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 2","pages":"529-533"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147654417","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

Comparative analysis of procalcitonin kinetics between the first and second infectious events in the intensive care unit. 重症监护病房第一次和第二次感染事件降钙素原动力学的比较分析。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-01-01

Eduardo M Prado, Jorge F Sinner, Joaquín Cantos, Nicolás Contrera Rolón, Indalecio Carboni Bisso, Ignacio Fernandez Ceballos, Mariana Vaena, Verónica Monzon, Iván A Huespe

{"title":"Comparative analysis of procalcitonin kinetics between the first and second infectious events in the intensive care unit.","authors":"Eduardo M Prado, Jorge F Sinner, Joaquín Cantos, Nicolás Contrera Rolón, Indalecio Carboni Bisso, Ignacio Fernandez Ceballos, Mariana Vaena, Verónica Monzon, Iván A Huespe","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Sepsis arises from a dysregulated host response to infection. After the initial hyperinflammatory phase, some patients may develop sepsis-induced immunosuppression, predisposing them to new infectious episodes whose immunological behavior remains poorly understood. Procalcitonin (PCT) is a widely used biomarker in sepsis management, but its kinetics during recurrent infections have not been systematically evaluated.Materials and methods: Retrospective cohort study at a tertiary university hospital in Argentina, including adult intensive care unit patients who experienced two infectious events separated by 7 to 30 days. PCT levels and SOFA scores were analyzed using mixed-effects models, adjusting for infection source, bacterial isolation, and renal function.Results: 55 patients met inclusion criteria. During the first infectious event, PCT levels were significantly higher: 42.13 pg/mL (95% CI 33.59-50.67) and showed a rapid daily decline of 5 pg/mL (95% CI -5.9 to -4; p<0.01). In contrast, the second event showed lower PCT peaks: 32.47 pg/mL (-9.66 pg/mL difference; p<0.01) and a slower decline (interaction coefficient 1.45; p=0.04). Organ dysfunction was greater during the first event, with higher delta SOFA scores compared to the second median 5 vs. 2 (coefficient -2.53; p<0.01).Conclusion: These findings show distinct PCT kinetics between initial and subsequent infectious episodes, suggesting attenuated inflammatory responses and reduced organ dysfunction during the second event. The observed alteration in PCT values could reflect a change in the dynamics of the immune response secondary to the first infectious event.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 2","pages":"415-424"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147654182","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

[Post-hysterectomy chyloascites: A rare complication]. 子宫切除术后乳糜腹水：一种罕见的并发症。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-01-01

Sofia Montiel, Cristina Pasaca, Melina Lopepe, Fernando Gorosito, Agustina Rubiño, Pedro Wainer

引用次数: 0

[Rhino-orbito-cerebral mucormycosis in a critically ill patient, mimicking meningoencephalitis on admission]. [1例危重病人鼻-眶-脑毛霉菌病，入院时模拟脑膜脑炎]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-01-01

Pablo Saúl, Lorena González, Natalia Campagnucci, Cecilia Domínguez, Viviana Chediack, Eleonora Cunto

引用次数: 0

[Hereditary sensory and autonomic neuropathy type IV]. 遗传性感觉和自主神经病变IV型。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-01-01

Gisela Zanga, Lucía Schottlaender, Fernando Ingallina, Florencia Giliberto, Ernesto Fulgenzi

{"title":"[Hereditary sensory and autonomic neuropathy type IV].","authors":"Gisela Zanga, Lucía Schottlaender, Fernando Ingallina, Florencia Giliberto, Ernesto Fulgenzi","doi":"","DOIUrl":"","url":null,"abstract":"Hereditary sensory and autonomic neuropathy type IV (HSAN IV), also known as congenital insensitivity to pain with anhidrosis (CIPA), is a very rare autosomal recessive neurological disorder caused by pathogenic variants in the NTRK1 gene. It is clinically characterized by insensitivity to pain, anhidrosis with recurrent febrile episodes, orthopedic complications secondary to repeated trauma, and, in some cases, intellectual disability. We report the case of a 43-year-old female patient with insensitivity to pain since the neonatal period, mild developmental delay, lingual self-mutilation, recurrent fever without infectious focus, Charcot-like joint deformities, and severe orthostatic hypotension. Neurological examination revealed generalized hypoalgesia and distal weakness in the lower limbs, corroborated by electrophysiological studies. Lumbar spine magnetic resonance demonstrated severe structural involvement, and Ewing's test documented both sympathetic and parasympathetic autonomic dysfunction. Genetic analysis identified the pathogenic NTRK1 variant (NM_002529.4): c.2311C>T; p.(Arg771Cys) in homozygosity, previously reported in individuals with CIPA. This finding was confirmed by intrafamilial segregation analysis, which demonstrated the homozygous status of the patient and heterozygous carrier status in her siblings. We present this case because of its rarity, its molecular confirmation, and its remarkable clinical manifestations, highlighting the importance of genetic diagnosis in rare neurological diseases.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 4","pages":"1028-1032"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148761793","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

[Scurvy in children with selectivity in foods: experience in a pediatric hospital]. [食物选择性儿童坏血病：儿科医院的经验]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-01-01

Irina A Ramirez, Natalia Moreno, Sofia Chiaramonte, Carola Saure

{"title":"[Scurvy in children with selectivity in foods: experience in a pediatric hospital].","authors":"Irina A Ramirez, Natalia Moreno, Sofia Chiaramonte, Carola Saure","doi":"","DOIUrl":"","url":null,"abstract":"Introduction: Scurvy is a disease caused by vitamin C deficiency, historically rare but reemerging in children with restrictive diets. Diagnosis is often delayed due to nonspecific symptoms and low clinical suspicion. The aim of this study was to describe the clinical and nutritional characteristics of patients with scurvy treated at a high-complexity pediatric hospital, in order to raise awareness about its reappearance as a severe manifestation of food selectivity and its strong association with neurodevelopmental disorders.Materials and methods: A retrospective descriptive study was conducted at a high-complexity pediatric hospital between June 2018 and April 2024. Patients with a diagnosis of scurvy confirmed by clinical response to treatment were included. Demographic, anthropometric, dietary, biochemical, and radiological data were collected.Results: Twenty-one patients were evaluated (median age: 4.4 years; 86% male), all with food selectivity; 80% had autism spectrum disorder. Nutritional status varied. Eighty percent required hospitalization. The most frequent symptoms were lower limb pain, difficulty walking, petechiae, and gingivitis. Fifty percent had positive acute-phase reactants, and 80% had compatible radiological findings. The average symptom duration before diagnosis was 38 days. Treatment with 1 g/day of oral vitamin C led to symptom resolution within 48-96 hours.Conclusion: Scurvy should be considered in children with restrictive diets, even in those with normal or excessive weight. Early clinical suspicion allows unnecessary studies to be avoided and enables rapid recovery through appropriate treatment.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 4","pages":"885-892"},"PeriodicalIF":0.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148765241","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

[The phenomenon of the "political author": an ethical limit in scientific publishing]. “政治作者”现象：科学出版的伦理限制。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-01-01

Eduardo L De Vito

引用次数: 0

[Propensity score and valid inferences]. [倾向得分和有效推论]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-01-01

Gabriela Carro, Guillermo Semeniuk, Hugo N Catalano

引用次数: 0