400 research outputs found
Tratamiento de las fracturas conminutas de cabeza radial mediante exéresis cabeza radial: resultados a largo plazo de 18 casos
La resección de la cabeza radial en las fracturas conminutas supone una opción de tratamiento comúnmente aceptada. El objetivo de este estudio es la evolución de los resultados a largo plazo tras escisión de la cabeza radial. Se realizó un estudio prospectivo en 18 pacientes con fracturas Mason tipo III y IV. La media de edad fue de 50 años con un tiempo medio de seguimiento de 6,8 años. Sólo 4 pacientes presentaron una pérdida de 15 grados o más de la extensión. Se produjo una pérdida den la pronación y supinación de 3,7º y 8,4 respectivamente. De acuerdo a la clasificación funcional utilizada, la media según EMPS fue de 83,3 con un 88,3% de resultados satisfactorios y según la HSSS la media fue de 71,1 con un 94% de excelentes o buenos resultados.Radial head resection is the accepted treatment of
comminuted radial-head fractures in adults. The purpose of
the present study was to evaluate the long-term outcomes of
primary radial head excision. A retrospective study was undertaken of 18 patients with Mason type III and IV. The average age at operation was 50 years and the average length of
follow-up was 6,8 years. Only four patients lost 15 degrees or
more of extension of the elbow. Pronation and supination
were decreased by an average of 3,7º and 8,4º respective. According to the functional classification that we use, the average of EMPS score was 83,3 with a 88,3% of satisfactory results and the average of HSSS score was 71,1 with a 94% of
excellent o good results
4,5-Dibromo-2,7-di-tert-butyl-9,9-dimethyl-9H-thioxanthene
In the title compound, C23H28Br2S, the thioxanthene unit is twisted, showing a dihedral angle of 29.3 (5)° between the benzene rings. When projected along [001], the packing shows two types of channels. The crystal studied was a racemic twin
Estudio de carcinoma medular de tiroides a partir de un caso índice
El carcinoma de tiroides es un tumor infrecuente; constituye menos del 1% de las neoplasias malignas en la población general y el 0, 5%-3% en la edad pediátrica. Existen cuatro tipos: papilar (80%-90% de los casos), folicular (5%-10%), medular (5%) y anaplásico (2%-3%). En el tipo medular, el 80% son esporádicos, y un 20% se asocia a un síndrome hereditario que se divide, fundamentalmente, en tres grupos: neoplasia endócrina múltiple 1, neoplasia endócrina múltiple 2 y carcinoma medular de tiroides familiar. Las formas hereditarias se producen por una mutación en el protooncogén RET, localizado en el brazo largo del cromosoma 10. Se presenta un caso de carcinoma medular de tiroides detectado a raíz de un estudio genético familiar con el propósito de resaltar la importancia del diagnóstico precoz y la intervención de equipos multidisciplinares expertos en esta patología para su manejo y seguimiento.
Thyroid cancer is an uncommon type of cancer, accounting less than 1% of all cancers in adults, and 0.5-3% of all cancers in children. There are four different types: papillary carcinoma (80-90% of cases), follicular (5-10%), medullary (5%) and anaplastic cell (2-3%). Eighty per cent of cases of medullary thyroid cancer are sporadic, but 20% are associated with an inherited syndrome that is divided into three groups: multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma. The inherited forms are caused by a disruption in the RET oncogene, which is located in the long arm of chromosome 10. A hereditary case of medullary thyroid carcinoma is presented. It was detected because of a familial genetic study. The purpose of the paper is emphasize the importance of the early diagnosis and the intervention of multidisciplinary teams of experts
Characterisation of Bergeyella spp. isolated from the nasal cavities of piglets
The aim of this study was to characterise bacteria in the genus Bergeyella isolated from the nasal passages of healthy piglets. Nasal swabs from 3 to 4 week-old piglets from eight commercial domestic pig farms and one wild boar farm were cultured under aerobic conditions. Twenty-nine Bergeyella spp. isolates were identified by partial 16S rRNA gene sequencing and 11 genotypes were discriminated by enterobacterial repetitive intergenic consensus (ERIC)-PCR. Bergeyella zoohelcum and Bergeyella porcorum were identified within the 11 genotypes. Bergeyella spp. isolates exhibited resistance to serum complement and phagocytosis, poor capacity to form biofilms and were able to adhere to epithelial cells. Maneval staining was consistent with the presence of a capsule. Multiple drug resistance (resistance to three or more classes of antimicrobial agents) was present in 9/11 genotypes, including one genotype isolated from wild boar with no history of antimicrobial use. In conclusion, Bergeyella spp. isolates from the nasal cavities of piglets showed some in vitro features indicative of a potential for virulence. Further studies are necessary to identify the role of Bergeyella spp. in disease and within the nasal microbiota of pigs.info:eu-repo/semantics/publishedVersio
Hipopituitarismo. Una causa poco frecuente de retraso psicomotor
Sr. Editor:
El hipopituitarismo es un síndrome clínico, resultante de la secreción insuficiente o ausencia completa de secreción de una o varias hormonas hipofisarias anteriores. Aunque típicamente el diagnóstico se suele realizar en período neonatal, en ocasiones, su primera manifestación puede ser un retraso psicomotor en loa lactantes, por lo que el diagnóstico precoz puede prevenir el deterioro neurocognitivo, evitando la aparición de secuelas neurológicas.
Se presentan 2 casos de hipopituitarismo, diagnosticados a raíz de la presencia de retraso psicomotor en periodo de lactante:
Caso 1
Recién nacida mujer a término, controlada por aumento craneal del diámetro biparietal y ventriculomegalia de ventrículos laterales con colpocefalia, sin signos de hipertensión intracraneal. Con 20 meses persiste ausencia de bipedestación y lenguaje; estudio analítico neurometabólico, carga viral de citomegalovirus, electroencefalograma, potenciales evocados auditivos, fondo de ojo, cariotipo y cribado neonatal normal. A los 21 meses presenta longitud de 70, 3 cm (–4, 8 DE) y peso de 6, 9 kg (–3, 71 DE), baja velocidad de crecimiento y estudio analítico hormonal compatible con déficit de hormona de crecimiento (GH), con el resto de estudios, incluido el tiroideo, normal. En el estudio genético arrays-CGH se detecta una deleción 1q25.2, asociado a haploinsuficiencia del gen LHX4..
Hypothalamyc hamartomas: Different ways of clinical debut. Cases report
Los hamartomas hipotalámicos son malformaciones no neoplásicas de sustancia gris compuestas por neuronas hiperplásicas. Suelen ser lesiones pequeñas localizadas en la base del cerebro, en el piso del tercer ventrículo y, generalmente, asintomáticas. Sin embargo, pueden ocurrir con alteraciones conductuales-cognitivas, crisis epilépticas y/o signos de pubertad precoz central en función de la localización en la que se encuentren. Se presentan dos pacientes de 2 años 8 meses y 7 años, con presencia de hamartomas hipotalámicos diagnosticados tras el estudio de pubertad precoz central. La paciente de menor edad presenta, además, crisis gelásticas, típicamente asociadas a hamartomas hipotalámicos. Tras los hallazgos clínicos y radiológicos, se trataron con análogos de gonadotropinas, y se observó una regresión de los signos puberales y una no progresión del tamaño de los hamartomas.
Hypothalamic hamartomas are benign tumors of gray substance composed by hyperplasic neurons. They are usually asymptomatic small masses with extensions into the third ventricular cavity. In some instances they can cause cognitive behavioral alterations, seizures and/or central precocious puberty depending on the location. Here we present two cases of central precocious puberty due to hypothalamic hamartomas at 28/12 and 7 years of age. The younger patient also presents gelastic seizures, typically associated with hypothalamic hamartomas. After the clinical and radiological findings, they started treatment with GnRH analogues and a regression of the puberty signs without progression in the hamartomas size was observed
Increasing Therapy Related Myeloid Neoplasms in Multiple Myeloma
© 2018 Stichting European Society for Clinical Investigation Journal Foundation. This document is made available under the CC-BY-NC 4.0 license http://creativecommons.org/licenses/by-nc /4.0/
This document is the submitted version of a published work that appeared in final form in European Journal of Clinical Investigation.Background: Despite the longer survival achieved in multiple myeloma (MM)
patients due to new therapy strategies, a concern is emerging regarding an
increased risk of secondary primary malignancies (SPMs) and how to characterize
those patients at risk. We performed a retrospective study covering a 28‐year follow‐
up period (1991‐2018) in a tertiary single institution.
Material and Methods: Data of 403 MM patients were recorded and compared
with the epidemiologic register of the population area covered by our centre, calculating
the standardize incidence ratio (SIR) for the different types of SPMs
diagnosed in the MM cohort. Fine and Gray regression models were used to identify
risk factors for SPMs.
Results: Out of the 403 MM patients, 23 (5.7%) developed SPMs: 13 therapyrelated
myeloid (TRM) malignancies (10 of them (77%) myelodysplastic syndrome
(MDS), 1 acute lymphoid leukaemia and 9 solid neoplasms. In the MM cohort, the
relative risk of MDS was significantly higher than in the general population. Survival
of patients with TRM malignancies was poor with a median of 4 months from
the diagnosis, and most of them showed complex karyotype. Within the MM subset,
multivariable analysis showed a higher risk of TRM malignancies in patients that
previously received prolonged treatment with lenalidomide (>18 months).
Conclusions: Though the improvement in MM outcome during the last decades
is an unprecedented achievement, it has been accompanied by the rise in TRM
malignancies with complex cytogenetic profile and poor prognosis that are in the
need of an improved biologic and therapeutic approach
BDNF genetic variants and methylation: effects on cognition in major depressive disorder
Brain-derived neurotrophic factor (BDNF) gene regulation has been linked to the pathophysiology of major depressive disorder (MDD). MDD patients show cognitive deficits, and altered BDNF regulation has a relevant role in neurocognitive functions. Our goal was to explore the association between BDNF genetic and epigenetic variations with neurocognitive performance in a group of MDD patients and healthy controls considering possible modulating factors. The sample included 134 subjects, 64 MDD patients, and 70 healthy controls. Clinical data, childhood maltreatment, and neurocognitive performance were assessed in all participants. Eleven single nucleotide polymorphisms (SNPs) and two promoter regions in the BDNF gene were selected for genotype and methylation analysis. The role of interactions between BDNF genetic and epigenetic variations with MDD diagnosis, sex, and Childhood Trauma Questionnaire (CTQ) scores was also explored. We observed significant associations between neurocognitive performance and two BDNF SNPs (rs908867 and rs925946), an effect that was significantly mediated by methylation values at specific promoter I sites. We identified significant associations between neurocognitive results and methylation status as well as its interactions with MDD diagnosis, sex, and CTQ scores. Our results support the hypothesis that BDNF gene SNPs and methylation status, as well as their interactions with modulating factors, can influence cognition. Further studies are required to confirm the effect of BDNF variations and cognitive function in larger samples.This study was supported in part by grants from the Carlos III Health Institute through the Ministry of Economy and Competitiveness (PI10/01753, PIE14/00034 and PI15/00662), co-funded by the European Regional Development Fund (ERDF) “A way to build Europe”, CIBERSAM, and the Catalan Agency for the Management of University and Research Grants (AGAUR 2017 SGR 1247). We also thank CERCA Programme/ Generalitat de Catalunya for institutional support. The genotyping and methylation services were carried out at CEGEN-PRB3-ISCIII and were supported by grants PT13/0001 and PT17/0019, ISCIII-SGEFI/FEDER. Dr. Labad received an Intensification of the Research Activity Grant (SLT006/17/00012). Dr. Costas was supported by a Miguel Servet II contract from the Carlos III Health Institute (CPII16/00019). Dr. Soriano-Mas was supported by a Miguel Servet contract from the Carlos III Health Institute (CPII16/00048)S
Childhood maltreatment interacts with hypothalamic-pituitary-adrenal axis negative feedback and major depression: effects on cognitive performance
Background: Childhood maltreatment (CM) is associated with impaired hypothalamic-pituitary-adrenal (HPA) axis negative feedback and cognitive dysfunction, resembling those abnormalities linked to major depressive disorder (MDD). Objectives: We aimed to assess the potential modulating effects of MDD diagnosis or HPA axis function in the association between different types of CM and cognitive performance in adulthood. Methods: Sixty-eight MDD patients and 87 healthy controls were recruited. CM was assessed with the Childhood Trauma Questionnaire. We obtained three latent variables for neuropsychological performance (verbal memory, visual memory and executive function/processing speed) after running a confirmatory factor analysis with cognitive tests applied. Dexamethasone suppression test ratio (DSTR) was performed using dexamethasone 0.25 mg. Results: Different types of CM had different effects on cognition, modulated by MDD diagnosis and HPA axis function. Individuals with physical maltreatment and MDD presented with enhanced cognition in certain domains. The DSTR differentially modulated the association between visual memory and physical neglect or sexual abuse. Conclusions: HPA axis-related neurobiological mechanisms leading to cognitive impairment might differ depending upon the type of CM. Our results suggest a need for early assessment and intervention on cognition and resilience mechanisms in individuals exposed to CM to minimize its deleterious and lasting effects
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