RESUMEN
Pain in individuals with RASopathies is a neglected topic in literature. In this article, we assessed prevalence and profile of pain in a sample of 80 individuals affected by RASopathies. The study sample included individuals with Noonan syndrome (N = 42), Costello syndrome (N = 17), and cardio-facio-cutaneous syndrome (N = 21). A set of standardized questionnaires and scales were administered (VAS/numeric scale, r-FLACC, Wang-Baker scale, NPSI, BPI, NCCPC-R) to detect and characterize acute and chronic pain and to study the influence of pain on quality of life (PEDs-QL, SF-36) and sleeping patterns (SDSC); revision of past medical history and multisystemic evaluation was provided. Available clinical data were correlated to the presence of pain. High prevalence of acute (44%) and chronic (61%) pain was documented in the examined sample. Due to age and intellectual disability, acute pain was localized in 18/35 individuals and chronic pain in 33/49. Muscle-skeletal and abdominal pain was more frequently reported. The intensity of acute and chronic pain interfered with daily activities in 1/3 of the sample. Pain negatively impacted on QoL and sleeping patterns. This work documents that pain is highly prevalent in RASopathies. Future studies including subjective and objective measures of pain are required to discriminate a somatosensory abnormality from an abnormal elaboration of painful stimuli at a central level.
Asunto(s)
Síndrome de Costello/complicaciones , Síndrome de Costello/epidemiología , Displasia Ectodérmica/complicaciones , Displasia Ectodérmica/epidemiología , Insuficiencia de Crecimiento/complicaciones , Insuficiencia de Crecimiento/epidemiología , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/epidemiología , Síndrome de Noonan/complicaciones , Síndrome de Noonan/epidemiología , Dolor/epidemiología , Dolor/etiología , Adolescente , Adulto , Niño , Preescolar , Síndrome de Costello/diagnóstico , Síndrome de Costello/etiología , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/etiología , Facies , Insuficiencia de Crecimiento/diagnóstico , Insuficiencia de Crecimiento/etiología , Femenino , Marcadores Genéticos , Mutación de Línea Germinal , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/etiología , Humanos , Lactante , Masculino , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/etiología , Dolor/diagnóstico , Fenotipo , Prevalencia , Vigilancia en Salud Pública , Encuestas y Cuestionarios , Adulto JovenRESUMEN
Although a frequent co-occurrence between bipolar disorder (BD) and conduct disorder (CD) in youth has been frequently reported, data about pharmacological management are scarce and focused on BD type I. Second generation antipsychotics are frequently used in clinical practice, but no comparative studies are available. The aim of this exploratory study was to compare efficacy and safety of risperidone and quetiapine in a sample of adolescents presenting a BD type II comorbid with CD. Twenty-two patients diagnosed with a structured interview according to Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, (male/female ratio, 12/10; mean (SD) age 15.0 (1.4) years) were randomized in 2 treatment groups (quetiapine [n = 12] vs risperidone [n = 10]), treated with flexible doses, and followed up for 12 weeks. Efficacy measures assessed manic symptoms, aggression, anxiety, depression, global clinical severity, and impairment. Safety measures included body mass index, serum prolactin, extrapyramidal adverse effects, and electrocardiogram. At the end of the study, all patients improved in all efficacy measures. Both treatments showed similar efficacy in reducing manic symptoms and aggression. Quetiapine was more effective in improving anxiety and depressive symptoms. A change in body mass index was found, and in a post hoc analysis, it was significant only in the risperidone group. Prolactin significantly increased only in the risperidone group. In BD type II, CD comorbidity, quetiapine, or risperidone monotherapy may be effective and relatively safe, although the small sample size, the limited duration of the study, and the design (lack of a blind assessments and of a placebo group) make it difficult to draw definitive conclusions.
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Trastorno Bipolar/tratamiento farmacológico , Trastorno de la Conducta/tratamiento farmacológico , Fumarato de Quetiapina/uso terapéutico , Risperidona/uso terapéutico , Adolescente , Antipsicóticos/efectos adversos , Trastorno Bipolar/fisiopatología , Índice de Masa Corporal , Trastorno de la Conducta/fisiopatología , Femenino , Humanos , Masculino , Prolactina/metabolismo , Fumarato de Quetiapina/efectos adversos , Risperidona/efectos adversos , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
INTRODUCTION: Nerve ultrasound has been used increasingly in neurophysiology laboratories, but data on Guillain-Barré syndrome (GBS) are still limited, and no follow-up studies are available. CASE REPORT: An 8-year-old boy was admitted with severe demyelinating GBS. Serial neurophysiological evaluations were performed initially and in follow-up. Ultrasound studies showed diffuse and heterogeneous nerve swelling and focal enlargement of single fascicles inside the nerve. Together with clinical and electrophysiological improvement, progressive normalization of ultrasound changes was seen. CONCLUSIONS: Ultrasound demonstrated structural nerve abnormalities in GBS. These changes normalized as the patient improved clinically and electrophysiologically. Further studies are needed to elucidate the diagnostic and prognostic value of ultrasound in GBS.
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Síndrome de Guillain-Barré/diagnóstico por imagen , Nervio Mediano/diagnóstico por imagen , Conducción Nerviosa/fisiología , Nervio Ciático/diagnóstico por imagen , Axones/fisiología , Niño , Síndrome de Guillain-Barré/fisiopatología , Humanos , Masculino , Nervio Mediano/fisiopatología , Nervio Ciático/fisiopatología , UltrasonografíaRESUMEN
This article analyzes the concept of intellectual capital (IC) in the health sector sphere by studying the case of a major nonprofit research organization in this sector, which has for some time been publishing IC reports. In the last few years, health care organizations have been the object of great attention in the implementation and transfer of managerial models and tools; however, there is still a lack of attention paid to the strategic management of IC as a fundamental resource for supporting and enhancing performance improvement dynamics. The main aim of this article is to examine the IC reporting model used by the Center of Molecular Medicine (CMM), a Swedish health organization which is an outstanding benchmark in reporting its IC. We also consider the specifics of IC reporting for health organizations, the lessons learned by analyzing CMM's IC reporting, and future perspectives for research.
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Instituciones de Salud , Difusión de la Información , Gestión del Conocimiento , Investigación , Modelos Teóricos , Estudios de Casos Organizacionales , Garantía de la Calidad de Atención de Salud , Suecia , Estados UnidosRESUMEN
OBJECTIVE: Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK) pathway, mostly resulting from de novo activating BRAF mutations. Children with CFCS are prone to epilepsy, which is a major life-threatening complication. The aim of our study was to define the natural history of epilepsy in this syndrome and exploring genotype-phenotype correlations. METHODS: We performed an observational study, including 34 patients with molecularly confirmed diagnosis (11 males, mean age: 15.8 years). The mean follow-up period was 9.2 years. For all patients, we performed neurological examination, cognitive assessment when possible, neuroimaging, electrophysiological assessment and systematic assessment of epilepsy features. Correlation analyses were performed, taking into account gender, age of seizure onset, EEG features, degree of cognitive deficits, type of mutation, presence of non-epileptic paroxysmal events and neuroimaging features. RESULTS: Epilepsy was documented in 64% of cases, a higher prevalence compared to previous reports. Patients were classified into three groups based on their electroclinical features, long-term outcome and response to therapy. A genotype-phenotype correlation linking the presence/severity of epilepsy to the nature of the structural/functional consequences of mutations was observed, providing a stratification based on genotype to improve the clinical management of these patients.
Asunto(s)
FenotipoRESUMEN
Costello syndrome (CS), a rare syndrome with multisystemic involvement inherited as a dominant trait, is characterized by developmental delay, coarse facial appearance, cardiac defects including hypertrophic cardiomyopathy, skin abnormalities, brain complications, and a predisposition to certain malignancies. The musculoskeletal system is particularly affected in CS, with peculiar orthopedic anomalies that impact posture and gait. Dystonia has been recently documented to contribute to abnormal postures and musculoskeletal anomalies characterizing CS, suggesting the possible use of pharmacological treatments to treat these complications. We report the case of a child affected by CS displaying a particularly severe musculoskeletal involvement with dystonic posture especially in the arms and legs. The Movement Disorder-Childhood Rating Scale (MD-CRS) and a gait analysis were used to assess clinical patterns of hyperkinetic movement disorder and dystonia. The child was further treated with trihexyphenidyl for six months with a final dosage of 14 mg. MD-CRS and gait analysis assessments provided evidence for a significant improvement of posture and the related musculoskeletal problems with no side effects. Our preliminary study report provides first evidence that pharmacological anti-dystonia treatment significantly improves movement and posture disorders in patients with CS. Further studies enrolling larger cohorts of patients should be performed to validate these preliminary observations.
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Tronco Encefálico/patología , Trastornos Migrañosos/etiología , Adolescente , Tronco Encefálico/fisiopatología , Enfermedad Crónica , Enfermedades Autoinmunes Desmielinizantes SNC/complicaciones , Enfermedades Autoinmunes Desmielinizantes SNC/diagnóstico , Enfermedades Autoinmunes Desmielinizantes SNC/patología , Enfermedades Desmielinizantes/complicaciones , Enfermedades Desmielinizantes/diagnóstico , Enfermedades Desmielinizantes/patología , Femenino , Humanos , Trastornos Migrañosos/diagnóstico , Trastornos Migrañosos/patologíaRESUMEN
During the past decade, a substantial increase in the use of second generation antipsychotics (SGAs) has occurred for a number of juvenile psychiatric disorders, often as off-label prescriptions. Although they were thought to be safer than older, first generation antipsychotics, mainly due to a lower risk of neurological adverse reactions, recent studies have raised significant concerns regarding their safety regarding metabolic, endocrinological and cardiovascular side effects. Aim of this paper is to update with a narrative review, the latest findings on safety of SGAs in youths. Results suggest that different SGAs may present different safety profiles. Metabolic adverse events are the most frequent and troublesome, with increasing evidences of heightened risk for type II diabetes mellitus. Results are discussed with specific emphasis on possible strategies of an active monitoring, which could enable both paediatricians and child psychiatrists to a possible prevention, early detection, and a timely management of such effects.
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Antipsicóticos/efectos adversos , Adolescente , Enfermedades de los Ganglios Basales/inducido químicamente , Niño , Diabetes Mellitus Tipo 2/inducido químicamente , Monitoreo de Drogas , Dislipidemias/inducido químicamente , Humanos , Síndrome de QT Prolongado/inducido químicamente , Uso Fuera de lo Indicado , Guías de Práctica Clínica como Asunto , Factores de Riesgo , Aumento de PesoRESUMEN
The atypical antipsychotic quetiapine has been used in different psychotic and non-psychotic disorders in children and adolescents in randomized clinical trials, open-label studies and chart reviews. Most of these studies suggest that quetiapine may be a promising agent with a potential for use in young patients. The aim of this paper is to critically review available literature on quetiapine in the treatment of children and adolescents with a variety of psychiatric disorders, including psychotic disorders, bipolar disorders (manic and depressive episodes), conduct disorder, autism spectrum disorder, Tourette's syndrome and personality disorders. Furthermore, we report on possible neurochemical pathways involved during treatment with quetiapine, and discuss some issues that are clinically relevant in daily practice, such as titration strategies, safety and tolerability, and monitoring possible side effects. Controlled studies support the short-term efficacy for treating psychosis, mania, and aggression within certain diagnostic categories. However, although quetiapine seems well tolerated in various pediatric populations during acute and intermediate treatments, and hyper-prolactinemia and extra-pyramidal side effects are consistently low among studies, weight gain and alterations in lipid profile need to be closely monitored. Furthermore, the distal benefit/risk ratio during long-term treatment remains to be determined.