Medicina-buenos Aires最新文献_第2页

[Paroxysmal dyskinesias in pediatrics: diagnostic route and treatment]. 小儿阵发性运动障碍：诊断途径与治疗

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Federico Baltar Yanes, Maria Josefina Garcia, Helena Deutsch

引用次数: 0

[When Guillain-Barré syndrome is not monophasic: Distinguishing recurrent Guillain-Barré syndrome from acuteonset chronic inflammatory demyelinating polyneuropathy and nodopathies]. 当格林-巴利综合征不是单相时：区分复发性格林-巴利综合征与急性发作的慢性炎症性脱髓鞘性多神经病变和结节病。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Emanuel Mostofi, Carolina Tesi Rocha

{"title":"[When Guillain-Barré syndrome is not monophasic: Distinguishing recurrent Guillain-Barré syndrome from acuteonset chronic inflammatory demyelinating polyneuropathy and nodopathies].","authors":"Emanuel Mostofi, Carolina Tesi Rocha","doi":"","DOIUrl":"","url":null,"abstract":"Guillain-Barré syndrome (GBS) is an acute inflammatory polyradiculoneuropathy typically characterized by a monophasic course and rapid progression of weakness. However, in a subset of patients, the clinical evolution may deviate from this expected pattern, creating important diagnostic challenges. Recurrence of symptoms, progression beyond eight weeks, or an atypical treatment response may suggest alternative diagnoses such as acute-onset chronic inflammatory demyelinating polyneuropathy or autoimmune nodopathies. Distinguishing these entities is essential because they differ in pathophysiology, clinical course, prognosis, and therapeutic strategies. Whereas GBS usually responds well to short-course immunotherapy, chronic inflammatory demyelinating polyneuropathy (CIDP), often requires maintenance immunomodulatory treatment, and IgG4 antibody-associated nodopathies may show limited response to intravenous immunoglobulin. In this manuscript, we review the clinical, electrophysiological, and temporal features that help distinguish recurrent GBS, acute-onset CIDP, and autoimmune nodopathies. We also discuss the importance of longitudinal clinical follow-up and serial electrophysiological studies for establishing an accurate diagnosis and guiding appropriate therapeutic management.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"14-20"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840776","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

[Pharmacologic treatment of dystonia]. [肌张力障碍的药物治疗]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Alonso Zea Vera, Graciela Del Pilar Guerrero Ruiz

引用次数: 0

[Clinical pattern and evolution of Charcot-Marie-Tooth disease in pediatrics]. [儿科腓骨肌萎缩症的临床模式和演变]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Laura Carrera Garcia, Berta Estévez-Arias, Andrés Nascimento, Jesica Expósito, Silvia Cerezo, Stephanie Lotz-Esquivel, Irene Zschaeck, Agustín Lujan, Chiara Gatnau, Eduardo Tizzano, Daniel Natera De Benito, Carlos Ortez

{"title":"[Clinical pattern and evolution of Charcot-Marie-Tooth disease in pediatrics].","authors":"Laura Carrera Garcia, Berta Estévez-Arias, Andrés Nascimento, Jesica Expósito, Silvia Cerezo, Stephanie Lotz-Esquivel, Irene Zschaeck, Agustín Lujan, Chiara Gatnau, Eduardo Tizzano, Daniel Natera De Benito, Carlos Ortez","doi":"","DOIUrl":"","url":null,"abstract":"Pediatric Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of inherited peripheral nervous system neuropathies that manifest during childhood or adolescence. Clinically, it is characterized by progressive distal muscle weakness, atrophy, areflexia, sensory impairment, and orthopedic deformities such as pes cavus or scoliosis. In early-onset cases, hypotonia, motor delay, and limited independent ambulation may be observed. From a genetic perspective, the most frequent subtypes in the pediatric population include PMP22 duplication (CMT1A), mutations in MPZ (CMT1B), mutations in GJB1 (X-linked CMT), and mutations in MFN2 (CMT2A). The introduction of next-generation sequencing techniques has significantly improved diagnostic yield, allowing identification of the genetic cause in an increasing number of patients and facilitating family counseling. Therapeutic management in pediatrics remains mainly symptomatic and multidisciplinary, including rehabilitation, orthotic support, orthopedic surgery when necessary, and pain management. However, advances in understanding molecular mechanisms, such as abnormalities in myelin, mitochondrial dynamics, and axonal transport, are driving the development of new targeted therapeutic strategies. Early identification and accurate genetic diagnosis are essential to optimize clinical follow-up and to promote access to future therapeutic trials.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"1-6"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840734","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

[How much can we influence the evolution of neurodevelopment?] 我们能在多大程度上影响神经发育的进化？］

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Gabriel González Rabelino

引用次数: 0

[Acute Chorea]. (急性舞蹈病)。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Patricia Herrera-Mora, Vania S Kenai Cruz-Rio, Raúl Gonzalez-Gonzalez, Oscar Delagarza-Pineda, Alonso Zea-Vera

{"title":"[Acute Chorea].","authors":"Patricia Herrera-Mora, Vania S Kenai Cruz-Rio, Raúl Gonzalez-Gonzalez, Oscar Delagarza-Pineda, Alonso Zea-Vera","doi":"","DOIUrl":"","url":null,"abstract":"Chorea is a hyperkinetic movement disorder characterized by involuntary, irregular, unpredictable, and purposeless movements that may involve the face, trunk, and limbs, with variable intensity and speed. In childhood, acute-onset chorea represents a neurological emergency, as it may reflect potentially treatable underlying conditions. From a pathophysiological perspective, chorea is associated with an imbalance between the direct and indirect pathways of the basal ganglia, particularly involving the striatum, resulting in excessive facilitation of motor activity. Pediatric chorea can be broadly classified into hereditary and acquired forms, with acquired causes being the most frequent. Postinfectious and autoimmune etiologies, especially Sydenham chorea, predominate, followed by infectious, metabolic, vascular, toxic, drug-induced, and paraneoplastic causes. Diagnostic evaluation relies on accurate identification of the movement phenomenology, assessment of temporal profile, and a comprehensive clinical examination, supported by targeted laboratory tests, neuroimaging, and genetic studies when appropriate. Treatment is primarily directed toward the underlying etiology and symptomatic control of involuntary movements, most commonly through pharmacologic modulation of dopaminergic pathways, combined with a multidisciplinary approach. Prognosis varies according to etiology and is generally favorable in the most common pediatric forms; however, recurrences and persistent neuropsychiatric symptoms may occur, highlighting the need for longterm follow-up.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"149-156"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840606","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

[Genetic Dystonias]. (遗传肌张力障碍)。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Daniela Muñoz-Chesta, Mónica Troncoso-Schifferli

引用次数: 0

[Prognosis of neonatal hypoxic-ischemic encephalopathy: diagnostic methods and treatment]. 新生儿缺氧缺血性脑病的预后：诊断方法与治疗。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Alfredo Cerisola, Florencia Pérez-Vidarte, Alex S Aguirre, Alcy R Torres

{"title":"[Prognosis of neonatal hypoxic-ischemic encephalopathy: diagnostic methods and treatment].","authors":"Alfredo Cerisola, Florencia Pérez-Vidarte, Alex S Aguirre, Alcy R Torres","doi":"","DOIUrl":"","url":null,"abstract":"Hypoxic-ischemic encephalopathy results from perinatal asphyxia and manifests through severe metabolic acidosis or neonatal depression requiring resuscitation. Since this remains a significant cause of mortality and neurodevelopmental disorders such as cerebral palsy and epilepsy, a multimodal evaluation integrating clinical, biochemical, neurophysiological, and neuroimaging parameters is required to determine the prognosis. In terms of clinical assessment, various scales can be applied, these are especially helpful in predicting the risk of adverse outcomes. The gold standard treatment for moderate and severe cases is therapeutic hypothermia, which must be initiated within the first 6 hours of life to significantly reduce death and neurodevelopmental impairments. However, this treatment is not recommended for infants under 34 weeks, as the risks outweigh the neuroprotective benefits in this population. Seizure management is paramount, as seizures represent an independent factor for poor prognosis. Regarding diagnostic imaging, magnetic resonance imaging performed between the fourth and fifth day of life constitutes a key tool. Deep gray matter involvement is the most robust marker of an adverse prognosis. Long-term prognosis must include prolonged followup to detect cognitive deficits, even if early evaluations were normal. Therefore, the systematic inclusion of these patients in follow-up and early intervention programs that promote brain plasticity is recommended, along with close communication with families for shared decision-making.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"91-96"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840783","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

[Opsoclonus Myoclonus Ataxia: Diagnostic pathway and immunosuppressive treatment in opsoclonus-myoclonus]. [斜阵肌阵挛性共济失调：斜阵肌阵挛的诊断途径和免疫抑制治疗]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Paula Ivarola

{"title":"[Opsoclonus Myoclonus Ataxia: Diagnostic pathway and immunosuppressive treatment in opsoclonus-myoclonus].","authors":"Paula Ivarola","doi":"","DOIUrl":"","url":null,"abstract":"Opsoclonus-myoclonus-ataxia syndrome (SOMA) is a rare neurological encephalopathy, probably of immunemediated etiology, which mainly affects infants and young children. It is frequently associated with neuroblastoma and carries a high risk of long-term neurological and cognitive sequelae. The aim of this study is to review the clinical, diagnostic, and therapeutic aspects of OMA in children, with an emphasis on early recognition and current therapeutic strategies. The diagnosis of SOMA is primarily clinical, based on the identification of opsoclonus, myoclonus, and ataxia, often accompanied by behavioral changes, sleep disturbances, and developmental regression. The etiological evaluation should include the search for neuroblastoma and the exclusion of other encephalopathies. Treatment focuses on early immunotherapy. Recent evidence supports the use of multimodal regimens combining corticosteroids, immunoglobulin, and immunosuppressive agents, as they are associated with lower relapse rates and better neurological outcomes. In conclusion, early recognition of Opsoclonus-Myoclonus Syndrome and early initiation of intensive immunotherapy are essential to reduce relapses and minimize neurological sequelae. Early multimodal strategies are currently the most recommended therapeutic approach.","PeriodicalId":18419,"journal":{"name":"Medicina-buenos Aires","volume":"86 Suppl 3 ","pages":"66-71"},"PeriodicalIF":0.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840695","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

[Recommendations for the diagnosis and treatment of optic neuromyelitis in children and adolescents]. [儿童和青少年视神经脊髓炎的诊断和治疗建议]。

IF 0.6 4区医学

Medicina-buenos Aires Pub Date : 2026-08-01

Bolívar Quito-Betancourt, Juan Contreras, Francisco Espinel, María Teresa Acosta

引用次数: 0