An Exploratory Approach of Clinically Useful Biomarkers of Cvid by Logistic Regression.

Despite advancements in genetic and functional studies, the timely diagnosis of common variable immunodeficiency (CVID) remains a significant challenge. This exploratory study was designed to assess the diagnostic performance of a novel panel of biomarkers for CVID, incorporating the sum of κ+λ light chains, soluble B-cell maturation antigen (sBCMA) levels, switched memory B cells (smB) and the VISUAL score. Comparative analyses utilizing logistic regression were performed against established gold-standard tests, specifically antibody responses. Our research encompassed 88 subjects, comprising 27 CVID, 23 selective IgA deficiency (SIgAD), 20 secondary immunodeficiency (SID) patients and 18 healthy controls. We established the diagnostic accuracy of sBCMA and the sum κ+λ, achieving sensitivity (Se) and specificity (Spe) of 89% and 89%, and 90% and 99%, respectively. Importantly, sBCMA showed strong correlations with all evaluated biomarkers (sum κ+λ, smB cell and VISUAL), whereas the sum κ+λ was uniquely independent from smB cells or VISUAL, suggesting its additional diagnostic value. Through a multivariate tree decision model, specific antibody responses and the sum κ+λ emerged as independent, signature biomarkers for CVID, with the model showcasing an area under the curve (AUC) of 0.946, Se 0.85, and Spe 0.95. This tree-decision model promises to enhance diagnostic efficiency for CVID, underscoring the sum κ+λ as a superior CVID classifier and potential diagnostic criterion within the panel.

Relationship of ankyloglossia and obstructive sleep apnea: systematic review and meta-analysis.

PURPOSE: Recent studies have highlighted the potential role of a short lingual frenulum as a risk factor for pediatric obstructive sleep apnea syndrome. A shortened frenulum may contribute to abnormal orofacial development, leading to increased upper airway resistance and susceptibility to upper airway collapsibility during sleep. Recognizing early indicators, such as a short lingual frenulum, is crucial for prompt intervention. This systematic review aims to evaluate the association between a short lingual frenulum and the risk of obstructive sleep apnea syndrome in children. METHODS: This systematic review adheres to PRISMA criteria for a quantitative analysis. A comprehensive search was conducted on five databases until January 2024 to identify relevant studies. The selected articles underwent rigorous analysis, considering study design, sample characteristics, lingual frenulum characterization, sleep assessment methods, and key findings. RESULTS: A total of 239 references were initially identified. Finally, six studies were included in the qualitative synthesis, with four studies eligible for the quantitative synthesis. The Newcastle-Ottawa scale was employed to assess study quality. Meta-analysis, supported by a moderate evidence profile according to the GRADE scale, revealed statistically significant differences, with odds ratios of 3.051 (confidence interval: 1.939 to 4.801) for a short frenulum and 12.304 (confidence interval: 6.141 to 24.653) for a high-arched palate. CONCLUSION: This systematic review and meta-analysis provide evidence supporting the association between ankyloglossia and obstructive sleep apnea in children. Nevertheless, it is crucial to consider additional factors such as tongue mobility and the presence of a high-arched palate in further evaluations.

Dentinogenesis imperfecta: case report with nanoceramic resin crowns restorative treatment.

Children with dentinogenesis imperfecta require restorative or prosthodontic treatment to minimize the aesthetic and functional impact of the condition. This clinical case report describes the oral rehabilitation procedure in a 12-year-old patient with dentinogenesis imperfecta type II using nanoceramic resin crowns fabricated with Computer-Aided Design/Computer-Aided Manufacturing (CAD/CAM) technology and the patient's progression over eight years. This minimal intervention approach enabled functional and aesthetic reestablishment along with tooth wear prevention. The result simplified an extensive prosthetic procedure and facilitated an affordable rehabilitation for the young patient while providing excellent long-term outcomes.

Enhancing Prostate Tumor Biobanking Reliability with Improved Sampling Technique and Histological Characterization.

Acquiring fresh and well-characterized tumor tissue samples is critical for conducting high-quality "omics" studies. However, it can be particularly challenging in the context of prostate cancer (PC) due to the unique nature of this organ and the high heterogeneity associated with this tumor. On the other hand, histopathologically characterizing samples before their storage without causing significant tissue alterations is also an intriguing challenge. In this context, we present a new method for acquiring, mapping, characterizing, and micro-dissecting resected prostate tissue based on anatomopathological criteria. Unlike previously published protocols, this method reduces the time required for histopathological analysis of the prostate specimen without compromising its structure, which is crucial for assessing surgical margins. Furthermore, it enables the delineation and micro-macro dissection of fresh prostate tissue samples, with a focus on histological tumor areas defined by pathological criteria such as Gleason score, precursor lesions (high-grade prostatic intraepithelial neoplasia - PIN), and inflammatory lesions (prostatitis). These samples are then stored in a Biobank for subsequent research analyses.

Use of sera cell free DNA (cfDNA) and exovesicle-DNA for the molecular diagnosis of chronic Chagas disease.

Chagas disease, a neglected tropical disease, is now considered a worldwide health concern as a result of migratory movements from Central and South America to other regions that were considered free of the disease, and where the epidemiological risk is limited to transplacental transmission or blood or organ donations from infected persons. Parasite detection in chronically ill patients is restricted to serological tests that only determine infection by previous infection and not the presence of the parasite, especially in patients undergoing treatment evaluation or in newborns. We have evaluated the use of nucleic acids from both circulating exovesicles and cell-free DNA (cfDNA) from 50 samples twice randomly selected from a total of 448 serum samples from immunologically diagnosed patients in whom the presence of the parasite was confirmed by nested PCR on amplicons resulting from amplification with kinetoplastid DNA-specific primers 121F-122R. Six samples were randomly selected to quantify the limit of detection by qPCR in serum exovesicles. When the nucleic acids thus purified were assayed as a template and amplified with kinetoplastid DNA and nuclear satellite DNA primers, a 100% positivity rate was obtained for all positive samples assayed with kDNA-specific primers and 96% when SAT primers were used. However, isolation of cfDNA for Trypanosoma cruzi and amplification with SAT also showed 100% positivity. The results demonstrate that serum exovesicles contain DNA of mitochondrial and nuclear origin, which can be considered a mixed population of exovesicles of parasitic origin. The results obtained with serum samples prove that both cfDNA and Exovesicle DNA can be used to confirm parasitaemia in chronically ill patients or in samples where it is necessary to demonstrate the active presence of the parasite. The results confirm for the first time the existence of exovesicles of mitochondrial origin of the parasite in the serum of those affected by Chagas disease.

Nanoemulsion Increases the Antifungal Activity of Amphotericin B against Four Candida auris Clades: In Vitro and In Vivo Assays.

Candida auris is an emerging yeast of worldwide interest due to its antifungal resistance and mortality rates. The aim of this study was to analyse the in vitro and in vivo antifungal activity of a nanoemulsion loaded with amphotericin B (NEA) against planktonic cells and biofilm of C. auris clinical isolates belonging to four different clades. In vivo assays were performed using the Galleria mellonella model to analyse antifungal activity and histopathological changes. The in vitro results showed that NEA exhibited better antifungal activity than free amphotericin B (AmB) in both planktonic and sessile cells, with >31% inhibition of mature biofilm. In the in vivo assays, NEA demonstrated superior antifungal activity in both haemolymph and tissue. NEA reduced the fungal load in the haemolymph more rapidly and with more activity in the first 24 h after infection. The histological analysis of infected larvae revealed clusters of yeast, immune cells, melanisation, and granulomas. In conclusion, NEA significantly improved the in vitro and in vivo antifungal activity of AmB and could be considered a promising therapy for C. auris infections.

Management of Hypoplastic or Hypomineralized Defects with Resin Infiltration at Pediatric Ages: Systematic Review.

Hypoplastic or hypomineralized enamel defects represent a recurrent reason for consultation within the pediatric population, causing great discomfort due to their aesthetic appearance, as well as their functional limitations. Current conservative dentistry requires minimally invasive treatments in order to treat such defects and provide successful, definitive solutions. A systematic review of the literature has been carried out in accordance with the PRISMA recommendations. A search was carried out in the PubMed, Scopus, SciELO and Web of Science databases, completed with a manual search. The following variables were extracted from the selected studies: author, year, publication journal, type of study, sample, age of the participants and the materials used for its development. From the initial electronic search of the four databases, 282 articles were identified: 34 from PubMed, 240 from Scopus, 0 from SciELO and 8 from Web of Science. After eliminating duplicate articles, a total of 225 remained. After reading the title and abstract, 158 articles were eliminated, leaving 68. Upon reading the full text, the remaining studies were eliminated for not answering the research question or the inclusion criteria, leaving a total of 13 articles. Finally, 12 articles were used to carry out the systematic review. Treatments performed to date with the ICON™ system in pediatric patients have shown good results after their application. Since the variability of diagnostic methods has been observed, new diagnostic and assessment protocols should be created after treatment to objectify their effect on hypoplastic or hypomineralized enamel defects. In the same way, it has been described that treatment provides better results if combined with other opalustre-type or remineralizing materials. This review is registered in PROSPERO with the number CRD42021288738.

Design and Validation of a Questionnaire to Measure the Perception of Nursing Degree Students about the Learning Process in Primary Care.

The aim of this study was to develop a tool for the evaluation of the learning process of the clinical practicum in primary care. The study was carried out in two phases: (1) identification of the categories that determine the perception of the nursing degree students about the learning process in the clinical practicum in primary care and the items for each category; and (2) cross-sectional study in a sample of 475 nursing degree students. The psychometric properties in terms of reliability (internal consistency) and construct validity were analyzed through a confirmatory factor analysis. Cronbach's alpha coefficient of internal consistency for the entire questionnaire was 0.93, and that for each of the categories was above 0.70 in all cases. The chi-squared test was statistically significant (2.84; p < 0.001). The confirmatory factor analysis produced a model of 6 dimensions and 41 items. The parameters were estimated through the least squares method. All saturations were statistically significant (p < 0.05). In view of the results of this study, it can be asserted that the questionnaire to measure the perception of the nursing degree students about the learning process in the community clinical practicum (QPCLP) presents good properties in terms of internal consistency and validity.

Validity of the Functioning Assessment Short Tests (FAST), in patients with schizophrenia.

INTRODUCTION: Functional impairment in schizophrenia is one of the main features of the disorder and implies a great impact on the patient's quality of life. The Brief Functioning Assessment Scale (FAST), originally validated in bipolar disorder, has also been validated for its application in other mental disorders. However, we only found one study on the reliability and validity of the Brazilian version in schizophrenia. The purpose of this study was to analyze the psychometric properties of the Spanish version of the FAST in patients diagnosed with schizophrenia. MATERIAL AND METHODS: A total of 226 patients with a diagnosis of schizophrenia were evaluated by mean the FAST, the GAF and the self-care requirements scale (ERA). Scale properties were analyzed in terms of internal consistency, inter-observer agreement and test-retest reliability. Convergent validity with the GAF and ERA scales was also analyzed, as well as construct validity by means of a Confirmatory Factor Analysis (CFA). RESULTS: For the total scale, the results showed high internal consistency (Cronbach's Alpha of, 87), as well as good inter-observer (ICC=,86) and test-retest (ICC=,77) agreement. Concurrent validity with the GAF scale was discrete (r=-,32; P<,001) and with the ERA scale was moderate (r=,50; P<,001). CFA showed an internal structure that matched the six factors proposed by the original scale, with a good level of item saturation for each factor. CONCLUSIONS: The FAST scale showed good psychometric properties in terms of reliability and validity in its Spanish version for its application in patients with schizophrenia. It can be considered as a good tool to assess different areas of functional impairment in clinical practice and research.

Validación de la versión española de la Escala de funcionamiento breve (FAST) en pacientes diagnosticados de esquizofrenia / Validity of the Functioning Assessment Short Tests (FAST), in patients with schizophrenia

Introducción: El deterioro funcional es una de las principales características del curso de la esquizofrenia e implica un gran impacto en la calidad de vida del paciente. La Escala de funcionamiento breve (FAST), validada originalmente en trastorno bipolar, también ha sido validada para su aplicación en otros trastornos mentales, aunque solo encontramos un estudio sobre la fiabilidad y validez de la versión brasileña en esquizofrenia. El propósito de este estudio fue analizar las propiedades psicométricas de la versión española de la FAST en pacientes diagnosticados de esquizofrenia.Material y métodos: Un total de 226 pacientes con diagnóstico de esquizofrenia fueron evaluados, cumplimentando la FAST, la GAF y la Escala de requisitos de autocuidado (ERA). Se analizaron las propiedades de la escala en términos de consistencia interna, concordancia interobservador y fiabilidad test-retest. Se analizó también la validez convergente con las escalas GAF y ERA, y la validez de constructo mediante un análisis factorial confirmatorio.Resultados:Para el total del cuestionario los resultados mostraron una elevada consistencia interna (Cronbach's Alpha de 0,87), así como una buena concordancia interobservador (CCI=0,86) y test-retest (CCI=0,77). La validez concurrente con la escala GAF fue discreta (r=–0,32; p<0,001) y con la escala ERA moderada (r=0,50; p<0,001). El análisis factorial confirmatorio mostró una estructura interna que se ajustaba a los 6 factores de la escala original, con un buen nivel de saturación de los ítems para cada factor.Conclusiones: La escala FAST mostró buenas propiedades psicométricas en términos de fiabilidad y validez en su versión española para su aplicación en pacientes con esquizofrenia. Se puede considerar una buena herramienta para evaluar diferentes áreas del deterioro funcional en la práctica clínica y en investigación. (AU)

Introduction: Functional impairment in schizophrenia is one of the main features of the disorder and implies a great impact on the patient's quality of life. The brief functioning assessment scale (FAST), originally validated in bipolar disorder, has also been validated for its application in other mental disorders. However, we only found one study on the reliability and validity of the Brazilian version in schizophrenia. The purpose of this study was to analyze the psychometric properties of the Spanish version of the FAST in patients diagnosed with schizophrenia.Material and methods: A total of 226 patients with a diagnosis of schizophrenia were evaluated by mean the FAST, the GAF and the self-care requirements scale (ERA). Scale properties were analyzed in terms of internal consistency, inter-observer agreement and test–retest reliability. Convergent validity with the GAF and ERA scales was also analyzed, as well as construct validity by means of a Confirmatory Factor Analysis (CFA).Results: For the total scale, the results showed high internal consistency (Cronbach's Alpha of .87), as well as good inter-observer (ICC=.86) and test–retest (ICC=.77) agreement. Concurrent validity with the GAF scale was discrete (r=−.32; P<.001) and with the ERA scale was moderate (r=.50; P<.001). CFA showed an internal structure that matched the six factors proposed by the original scale, with a good level of item saturation for each factor.Conclusions: The FAST scale showed good psychometric properties in terms of reliability and validity in its Spanish version for its application in patients with schizophrenia. It can be considered as a good tool to assess different areas of functional impairment in clinical practice and research. (AU)

A Mobile App-Based Intervention Program for Nonprofessional Caregivers to Promote Positive Mental Health: Randomized Controlled Trial.

BACKGROUND: While nonprofessional caregivers often experience a sense of fulfillment when they provide care, there is also a significant risk of emotional and physical burnout. Consequently, this can negatively affect both the caregiver and the person being cared for. Intervention programs can help empower nonprofessional caregivers of people with chronic diseases and develop solutions to decrease the physical and psychological consequences resulting from caregiving. However, most clinically tested intervention programs for nonprofessional caregivers require face-to-face training, and many caregivers encounter obstacles that hinder their participation in such programs. Consequently, it is necessary to design internet-based intervention programs for nonprofessional caregivers that address their needs and test the efficacy of the programs. OBJECTIVE: The aim of this study was to evaluate the effectiveness of a smartphone app-based intervention program to increase positive mental health for nonprofessional caregivers. METHODS: This study was a randomized controlled trial of 3 months' duration. A total of 152 caregivers over 18 years of age with a minimum of 4 months' experience as nonprofessional caregivers were recruited from primary health care institutions. Nonprofessional caregivers were randomized into two groups. In the intervention group, each caregiver installed a smartphone app and used it for 28 days. This app offered them daily activities that were based on 10 recommendations to promote positive mental health. The level of positive mental health, measured using the Positive Mental Health Questionnaire (PMHQ), and caregiver burden, measured using the 7-item short-form version of the Zarit Caregiver Burden Interview (ZBI-7), were the primary outcomes. Users' satisfaction was also measured. RESULTS: In all, 113 caregivers completed the study. After the first month of the intervention, only one factor of the PMHQ, F1-Personal satisfaction, showed a significant difference between the groups, but it was not clinically relevant (0.96; P=.03). However, the intervention group obtained a higher mean change for the overall PMHQ score (mean change between groups: 1.40; P=.24). The results after the third month of the intervention showed an increment of PMHQ scores. The mean difference of change in the PMHQ score showed a significant difference between the groups (11.43; P<.001; d=0.82). Significant changes were reported in 5 of the 6 factors, especially F5-Problem solving and self-actualization (5.69; P<.001; d=0.71), F2-Prosocial attitude (2.47; P<.001; d=1.18), and F3-Self-control (0.76; P=.03; d=0.50). The results of the ZBI-7 showed a decrease in caregiver burden in the intervention group, although the results were inconclusive. Approximately 93.9% (46/49) of the app users indicated that they would recommend the app to other caregivers and 56.3% (27/49) agreed that an extension of the program's duration would be beneficial. CONCLUSIONS: The app-based intervention program analyzed in this study was effective in promoting positive mental health and decreasing the burden of caregivers and achieved a high range of user satisfaction. This study provides evidence that mobile phone app-based intervention programs may be useful tools for increasing nonprofessional caregivers' well-being. The assessment of the effectiveness of intervention programs through clinical trials should be a focus to promote internet-based programs in health policies. TRIAL REGISTRATION: ISRCTN Registry ISRCTN14818443; http://www.isrctn.com/ISRCTN14818443. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.1186/s12889-019-7264-5.

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.

GLYT1 encephalopathy is a form of glycine encephalopathy caused by disturbance of glycine transport. The phenotypic spectrum of the disease has not yet been completely described, as only four unrelated families with the disorder have been reported to date. Common features of affected patients include neonatal hypotonia, respiratory failure, encephalopathy, myoclonic jerks, dysmorphic features, and musculoeskeletal anomalies. All reported affected patients harbor biallelic genetic variants in SLC6A9. SNP array together with Sanger sequencing were performed in a newborn with arthrogryposis and severe neurological impairment. The novel genetic variant c.997delC in SLC6A9 was detected in homozygous state in the patient. At protein level, the predicted change is p.(Arg333Alafs*3), which most probably results in a loss of protein function. The variant cosegregated with the disease in the family. A subsequent pregnancy with ultrasound anomalies was also affected. The proband presented the core phenotypic features of GLYT1 encephalopathy, but also a burst suppression pattern on the electroencephalogram, a clinical feature not previously associated with the disorder. Our results suggest that the appearance of this pattern correlates with higher cerebrospinal fluid glycine levels and cerebrospinal fluid/plasma glycine ratios. A detailed discussion on the possible pathophysiological mechanisms of the disorder is also provided.

First Metatarsophalangeal Arthrodesis After Failed Distal Chevron Osteotomy for Hallux Valgus.

BACKGROUND: The purpose of this study was to compare the clinical outcomes after first metatarsophalangeal (MTP) joint arthrodesis for hallux rigidus between patients who underwent primary arthrodesis and those who had had a prior surgery for hallux valgus. METHODS: Our design was a retrospective cohort study comparing 29 patients who underwent primary arthrodesis (primary group) and 34 patients with hallux rigidus after hallux valgus surgery (secondary group). The clinical assessment included the American Orthopaedic Foot & Ankle Society (AOFAS) score and a visual analog scale (VAS) for pain. Radiological evaluation was also performed. Overall, the mean postoperative follow-up was 3.4 (range, 2-5) years. RESULTS: At final follow-up, AOFAS and VAS pain scores significantly improved in both groups (P = .001). However, the mean AOFAS (P = .001) and VAS pain (P = .008) scores were significantly better in the primary group than in the secondary group. Radiologically, there were no significant differences between the groups in any angle after arthrodesis. Revision surgeries were not required in the primary group. In the secondary group, there was 1 revision due to deep infection, and 3 other patients required dorsal plate removal. Excluding plate removal, the Kaplan-Meier survival at 3 years was not significantly different between groups (P = .775). CONCLUSION: Although arthrodesis of the first MTP joint was an effective procedure for hallux rigidus, the clinical outcomes in patients who had prior hallux valgus surgery were worse than those for patients who underwent primary surgery for hallux rigidus. LEVEL OF EVIDENCE: Level III, retrospective cohort study.

Risk factors for orthodontic mini-implants in skeletal anchorage biological stability: a systematic literature review and meta-analysis.

The reason of the biological stability loss of mini-implants is still a matter of discussion between dentistry professionals. The main objective of this systematic literature review and meta-analysis was to analyze the risk factors that prejudice this loss. A search was made in the electronic databases Pubmed, Scopus, Embase and Cochrane, in addition a manual search was made too in Grey Literature (Opengrey). No limits were set on the year of publication or language. The inclusion criteria were: studies in humans treated with fixed appliances with mini-implants, where the risk factors for secondary stability were evaluated for a minimum of 8 weeks. After eliminating duplicate studies and assessing which ones achieve the inclusion criteria, a total of 26 studies were selected for the qualitative synthesis, 18 of them were included in the quantitative synthesis. Common risk variables were compared in all of them. Analyzing the forest and funnel plots, statistically significant differences were obtained only for location, the upper maxilla having lower risk than the mandible with an odds ratio of 0.56 and confidence interval of 0.39 to 0.80. Prospective studies under controlled conditions should be required in order to obtain a correct assessment of the variables analyzed.

Cutaneous and mucocutaneous leishmaniasis: experience of a Mediterranean hospital.

BACKGROUND: Leishmaniasis, considered by the World Health Organization as one of the most important tropical diseases, is endemic in the Mediterranean Basin. The aim of this study was to evaluate epidemiological and clinical characteristics of cutaneous (CL) and mucocutaneous leishmaniasis (MCL) in La Fe University Hospital, Valencia, Spain. The particular focus was on diagnosis techniques and clinical differences according to the immunological status of the patients. METHODS: An eleven-year retrospective observational study of CL and MCL episodes at the hospital was performed. Epidemiological, clinical and therapeutic variables of each case, together with the microbiological and anatomopathological diagnosis, were analyzed. RESULTS: A total of 42 patients were included, 30 of them were male and 28 were immunocompetent. Most of the cases (36/42) were diagnosed in the last 5 years (2013-2017). The incidence of CL and MCL increased from 3.6/100,000 (2006-2012) to 13.58/100,000 (2013-2017). The majority of the patients (37/42) exhibited CL, in 30 cases as single lesions (30/37). Ulcerative lesions were more common in immunosuppressed patients (13/14) than in immunocompetent patients (20/28), (P = 0.2302). The length of lesion presence before diagnosis was 7.36 ± 6.72 months in immunocompetent patients and 8.79 ± 6.9 months in immunosuppressed patients (P = 0.1863). Leishmania DNA detection (92.3%) was the most sensitive diagnostic technique followed by Giemsa stain (65%) and histopathological examination (53.8%). Twelve patients (12/42) had close contact with dogs or were living near to kennels, and 10 of them did not present underlying conditions. Intralesional glucantime (21/42) and liposomal amphotericin B (7/42) were the most common treatments administered in monotherapy. All patients evolved successfully and no relapse was reported. CONCLUSIONS: Some interesting clinical and epidemiological differences were found in our series between immunocompetent and immunosuppressed patients. Future studies can take these results further especially by studying patients with biological therapy. Skin biopsies combining NAAT with histological techniques are the most productive techniques for CL or MCL diagnosis.

Xantoma del tendón de aquiles bilateral: debut de xantomatosis cerebrotendinosa / Bilateral achilles tendon xanthoma: cerebrotendinous xanthomatosis debut

OBJETIVO Presentación de un inusual caso de xantomatosis cerebrotendinosa en un paciente de edad cuya primera manifestación fueron xantomas bilaterales del tendón de Aquiles. MATERIAL Y MÉTODOS Mujer de 62 años, que presenta tumoraciones, que presenta tumoraciones sólidas y polilobuladas, en la cara posterior de ambos tendones de Aquiles de 8 años de evolución. El diagnóstico se realizó mediante el hallazgo de hiperlipidemia y estudio genético. Se realió la exóresis quirúrgica parcial de las tumoraciones. RESULTADOS A los 5 años de la cirugía del pie izquierdo y 4 años del pie derecho la paciente estaba asintomática. Presentaba una fuerza para la flexión plantar bilateral de 5/5, pudiendo caminar y subir escaleras sin molestias. Presentaba una escala AOFAS de 85 y 90 puntos en el pie izquierdo y derecho, respectivamente. No hubo recidivas. DISCUSIÓN Los xantomas son depósitos de colesterol en el tejido conectivo de la piel, tendones o fascia, como resultado de una hiperlipoproteinemia. La importancia del caso radica en su sospecha diagnóstica, ya que la xantomatosis cerebrotendinosa suele manifestarse en pacientes de menos de 30 años de edad y en los que se ha recomendado la resección radical de las tumoraciones, e incluso del tendón, debido a las frecuentes recidivas. CONCLUSIÓN En pacientes de mayor edad con lesiones que infiltran el tendón, se puede optar por un tratamiento menos agresivo con un buen resultado clínico.

OBJETIVE Presentation of an unusual case of cerebrotendinous xanthomatosis in an elderly patient whose first manifestation was bilateral Achilles tendon xanthomas. MATERIAL AND METHODS 62-year-old woman presenting solid and polylobed tumors on the posterior aspect of both Achilles tendons for eight years. The diagnosis was made by means of hyperlipidemia and a genetic study. Surgical partial excision of the tumors was performed. RESULTS Five years after surgery on the left foot and four years after the right foot, the patient was asymptomatic. Bilateral plantar flexion force was 5/5, The patient was able to walk and climb stairs without discomfort. AOFAS score was 85 and 90 on the left and right feet, respectively. There were no recurrences. DISCUSSION Xanthomatosis is a genetic alteration with deposits of cholesterol in connective tissue of the skin, tendons or fascia, because of hyperlipoproteinemia. The importance of the present case lies in its diagnostic suspicion, since cerebrotendinous xanthomatosis manifests usually in patients under 30 years of age and in whom radical resection of tumors, and even of the tendon, has been recommended due to frequent recurrences . CONCLUSION In older patients with tumors that infiltrate the tendon, a less aggressive treatment can be chosen with a good clinical result.

Fractura del tubérculo medial de la apófisis posterior del astrágalo / Medial tubercle's fracture of posterior process of talus

OBJETIVO Mostrar una fractura infrecuente del tubérculo posteromedial del astrágalo diagnosticado y tratado de manera aguda mediante osteosíntesis con tornillo Acutrak® (2014 Acumed® LLC). MATERIAL Y MÉTODOS Varón de 28 años, que acude a Urgencias tras torcedura de tobillo con dolor al mover tobillo y hallux y tumefacción en cara interna. En Urgencias pasó desapercibida. En consulta a la semana refería sensación de que se le engancha el primer dedo con la flexoextensión. Se observa fractura del tubérculo medial de la apófisis posterior del astrágalo con desplazamiento >3mm y clínica de posible interposición del flexor hallucis longus. Se decidió tratamiento quirúrgico con tornillo Acutrak®. Se inmovilizó con férula 3 semanas y descarga 6 semanas. RESULTADOS A los 8 meses balance articular completo, sin dolor ni limitación para las ABVD y sin clínica de atrapamiento del flexor del hallux. Como complicación aguda, se verificó infección de herida quirúrgica que se trató con antibióticos. DISCUSIÓN Ese tipo de fracturas son infrecuentes. El mecanismo lesional suele ser dorsiflexión-pronación. Es importante un diagnóstico temprano y para ello es necesario una alta sospecha diagnóstica. Para su diagnóstico, son necesarias radiografías anteroposterior y lateral y si no se visualiza la lesión, proyección oblicua con 30°- 40° de rotación externa. En casos agudos resulta de utilidad la TAC y en casos crónicos la RM. CONCLUSIÓN Aunque generalmente el tratamiento es conservador, en ocasiones puede ser necesario la cirugía mediante osteosíntesis o exéresis del fragmento cuando la fractura provoca impingement.

OBJECTIVE Show an infrequent fracture of the posteromedial tubercle of the talus diagnosed and treated acutely by Acutrak® screw (2014 Acumed® LLC) osteosynthesis. MATERIAL AND METHODS A 28-year-old man attended the Emergency Department after spraining his ankle with pain when moving his ankle and hallux and swelling on the internal face. In the ER it went unnoticed. A week later in the clinic, he refered to the sensation that the first finger is hooked with the flexion extension. A fracture of the medial tubercle of the posterior process of the talus is observed with a displacement of > 3 mm and clinical signs of possible interposition of the hallucis longus . Surgical treatment with Acutrak® screw was made. He was immobilized with a splint for 3 weeks and discharge for 6 weeks. RESULTS At 8 months complete joint balance, without pain or limitations for BADL and without hallux flexor entrapment symptoms. As an acute complication, surgical wound infection that was treated with antibiotics. DISCUSSION These types of fractures are rare. The injury mechanism is usually dorsiflexion-pronation. Early diagnosis is important and a high diagnostic suspicion is required. Anteroposterior and lateral radiographs are necessary for its diagnosis and if the lesion is not visualized, oblique projection with 30°- 40° external rotation. CT is useful in acute cases and MRI in chronic cases. CONCLUSION Although the treatment is conservative, surgery may sometimes be necessary by means of osteosynthesis or excision of the fragment when the fracture causes impingement.

FOXP2 and language alterations in psychiatric pathology / FOXP2 and language alterations in psychiatric pathology

Abstract Background From the first reports of the linguist Noam Chomsky it has become clear that the development of language has an important genetic component. Several reports in families have shown the relationship between language disorders and genetic polymorphisms. The FOXP2 gene has been a fundamental piece for the understanding of language development. This gene codes for a transcription factor containing a forkhead domain of DNA binding and participates in the regulation of the expression of a large number of genes involved in the embryonic development of fundamental neuronal structures needed for the development of speech and language. Objective To present an updated view of the relationship between FOXP2 and language alterations in psychiatric pathology. Method Narrative review of information reported in databases on the recent advances supporting genetic participation in language disorders of psychiatric illness. Results Update of content related to FOXP2 and its participation in language alterations in psychiatric diseases. Discussion and conclusion Advances in the genetic study of language disorders in psychiatric pathology open up new avenues of investigation that allow us to explore how language emerged and how it evolved, as well as to carry out comparative studies on the structure and functioning of genes to approach the understanding of this complex characteristic that makes us human.

Resumen Antecedentes Desde los primeros reportes del lingüista Noam Chomsky ha quedado claro que el desarrollo del lenguaje tiene un importante componente genético. Diversos reportes en familias han mostrado la relación entre los trastornos del lenguaje y ciertos marcadores genéticos. El gen FOXP2 ha sido una pieza fundamental para entender el desarrollo del lenguaje. Se trata de un gen que codifica para un factor de transcripción con un dominio forkhead de unión al DNA y que participa en la regulación de la expresión de un gran número de genes durante el desarrollo embrionario de estructuras neuronales fundamentales para el desarrollo del habla y el lenguaje. Objetivo Presentar un panorama actualizado de la relación del gen FOXP2 en las alteraciones del lenguaje en la patología psiquiátrica. Método Revisión narrativa de la información reportada en diversas bases de datos sobre los recientes avances que soportan la participación genética en las alteraciones del lenguaje presentes en enfermedades psiquiátricas. Resultados Actualización del contenido relacionado con el gen FOXP2 y su participación en las alteraciones del lenguaje en las enfermedades psiquiátricas. Discusión y conclusión Los avances en el estudio genético de las alteraciones del lenguaje en la patología psiquiátrica abren nuevos caminos de investigación que permiten explorar cómo surgió y cómo ha evolucionado el lenguaje, así como para llevar a cabo estudios comparativos sobre la estructura y el funcionamiento de genes para aproximarse al entendimiento de esta compleja característica que nos hace humanos.

Physiological, biochemical and molecular bases of resistance to tribenuron-methyl and glyphosate in Conyza canadensis from olive groves in southern Spain.

Multiple resistance to acetolactate synthase (ALS, EC 2.2.1.6) and 5-enolpyruvylshikimate-3-phosphate synthase (EPSPS, EC 2.5.1.19) inhibitor herbicides was studied in two populations of Conyza canadensis (RTG and STG) harvested in southern Spain. Dose-response and enzymatic activity studies for the ALS-inhibiting herbicides showed only cross-resistance to sulfonylureas group but not to the other ALS chemical groups in the RTG population. Regarding glyphosate, the dose-response studies showed that the RTG population was 11.8 times more resistant than the STG population, while the inhibition of EPSPS enzyme (I50) was similar for both populations. Altered/reduced absorption and translocation were the main resistance mechanisms for glyphosate but not for tribenuron-methyl. The metabolic studies to find differences in the amounts of metabolites between the two populations were carried out using thin layer chromatography (for tribenuron-methyl) and capillary electrophoresis (for glyphosate). Metabolites were significantly differed among the two populations for tribenuron-methyl but not for glyphosate. The sequencing of the target-site ALS gene from RTG plants revealed a single point mutation, Pro-197-Ala, that causes resistance to sulfonylurea herbicide in C. canadensis.

Mechanisms of glyphosate resistance and response to alternative herbicide-based management in populations of the three Conyza species introduced in southern Spain.

BACKGROUND: In perennial crops, the most common method of weed control is to spray herbicides, and glyphosate has long been the first choice of farmers. Three species of the genus Conyza are among the most problematic weeds for farmers, exhibiting resistance to glyphosate. The objectives of this study were to evaluate resistance levels and mechanisms, and to test chemical control alternatives in putative resistant (R) populations of Conyza bonariensis, Conyza canadensis and Conyza sumatrensis. RESULTS: Plants from the three R populations of Conyza spp. survived high doses of glyphosate compared with plants from susceptible (S) populations. The rate of movement of 14 C glyphosate out of treated leaves in plants from S populations was higher than in plants from R populations. Only plants from the R population of C. sumatrensis contained the known target site 5-enolpyruvylshikimate-3-phosphate synthase mutation Pro106-Thr. Field responses to the different alternative herbicide treatments tested indicated injury and high effectiveness in most cases. CONCLUSIONS: The results indicate that non-target site resistant (NTSR) mechanisms explain resistance in C. bonariensis and C. canadensis, whereas both NTSR and target site resistant (TSR) mechanisms contribute to resistance in C. sumatrensis. The results obtained in the field trials suggest that the resistance problem can be solved through integrated weed management. © 2018 Society of Chemical Industry.