Repositorio de la Asociación Española de Neuropsiquiatría
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    Effect of JAK2v617F mutation in polycythemia vera on clinical course and disease outcomes

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    Tıp Fakültesi, İç Hastalıkları Ana Bilim DalıGiriş: Polisitemia Vera (PV) klonal hematopoezin örneklerinden biri olan miyeloproliferatif hastalıklardan biridir. Klonal çoğalma başta eritroid seri olmak üzere granülositik ve trombositik serideki her üç hücrenin anormal çoğalmasıyla karakterize bir durumdur. Gereç ve Yöntem: İnönü Üniversitesi Tıp Fakültesi Hastanesi İç Hastalıkları Hematoloji kliniğinde 01.01.2009-01.012024 yılları arasında takip edilen 99 PV tanılı hasta çalışmaya dahil edildi. Çalışmada hastaların adı, soyadı, protokol numarası, yaş, cinsiyet, tanı anındaki risk skorlaması, tanı anında başlanan tedavi ve takiplerinde uygulanan en son tedavi, tanıdaki laboratuvar (hemoglobin, hematokrit, lökosit ve trombosit) değerleri, kan biyokimyası, serum EPO, LDH, abdomenin radyolojik görüntülemesi, kemik iliği aspirasyon ve biyopsi verileri, JAK 2 gen mutasyonu sonuçları ve görülen komplikasyonları (tanı anındaki ve takipteki arterial ve venöz tromboz durumu) içeren bilgiler retrospektif olarak incelendi ve kaydedildi. Bulgular: JAK2 sınıflamasına göre tanı sırası dalak boyutu dağılımı açısından istatistiksel olarak anlamlı bir farklılık tespit edilmiştir. WBC değerleri bakımından JAK2V617F Allel yük sınıflaması ikili karşılaştırmalarda Pozitif %12.5-31 — Pozitif %78-100, arasında istatistiksel olarak anlamlı bir fark tespit edilmiştir. JAK2 sınıflamasına göre bireylerin HGB, HCT, PLT, LDH değerleri arasında istatistiksel olarak anlamlı bir farklılık saptanmamıştır Sonuçlar: Sonuç olarak JAK2v617F mutasyonu PV hastalığının ayrılmaz bir parçasıdır. Bizde çalışmamızda bu mutasyonun allel yük ve hastalığın diğer parametreleri arasındaki ilişkiyi açıklamaya ve hastalığın tedavisine etkisine araştırmayı amaçladık. Çalışmamızda splenomegalı ve WBC değerleri bakımından anlamlı bir ilişki bulunmuşken diğer parametreler ile arasında anlamlı bir ilişki bulunmamıştır. JAK2v617F alel yükünün uzun vadeli izlenmesinin klinik değeri üzerine yapılacak daha fazla araştırma, prognoz çıkarımı yapma, izleme stratejilerine rehberlik etme ve tedavi planlarını tasarlama açısından değerli olabilir. Anahtar Kelimeler: Polisitemia Vera, JAK2v617F mutasyonu, Splenomegali, Miyeloproliferatif NeoplazmIntroduction: Polycythemia Vera (PV) is one of the myeloproliferative diseases that are examples of clonal hematopoiesis. Clonal proliferation is a condition characterized by abnormal proliferation of all three cells in the granulocytic and thrombocytic series, especially the erythroid series. Material and Methods: 99 patients diagnosed with PV who were followed up at İnönü University Faculty of Medicine Hospital Internal Medicine Hematology Clinic between 01.01.2009 and 01.012024 were included in the study. In the study, the patients' name, surname, protocol number, age, gender, risk scoring at the time of diagnosis, treatment started at the time of diagnosis and the last treatment applied during follow-up, laboratory (hemoglobin, hematocrit, leukocyte and platelet) values at diagnosis, blood biochemistry, serum EPO, LDH, Information including radiological imaging of the abdomen, bone marrow aspiration and biopsy data, JAK 2 gene mutation results and complications (arterial and venous thrombosis status at diagnosis and during follow-up) were retrospectively examined and recorded. Results: A statistically significant difference was detected in spleen size distribution at diagnosis according to JAK2v617F Allele load classification. In terms of WBC values, a statistically significant difference was detected between Positive 12.5-31% - Positive 78-100% in pairwise comparisons of JAK2v617F Allele load classification. According to the JAK2 classification, no statistically significant difference was found between the HGB, HCT, PLT, LDH values of individuals. Conclusion: In conclusion, JAK2v617F mutation is an integral part of PV disease. In our study, we aimed to explain the relationship between the allele load of this mutation and other parameters of the disease and to investigate its effect on the treatment of the disease. While a significant relationship was found in terms of splenomegaly and WBC values in our study, no significant relationship was found with other parameters. Further research on the clinical value of long-term monitoring of JAK2V617F allele burden may be valuable for inferring prognosis, guiding monitoring strategies, and designing treatment plans. Keywords: Polycythemia Vera, JAK2v617F mutation, Splenomegaly, Myeloproliferative Neoplas

    Suicidio infanto-juvenil tras la pandemia de COVID-19: análisis de un fenómeno trágico

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    Introduction: Following the irruption of the COVID-19 pandemic, the prevalence of suicidal behaviors and completed suicides among Spanish youth (children and adolescents) has increased. Methods: This phenomenon, and the possible factors involved, are analyzed in a narrative way. Results: There is strong evidence of an increase in completed suicides and visits to the Child and Adolescent Psychiatry Emergency Department due to suicidal behaviors from July 2020, happening in a similar manner with a widespread geographic extent. National suicide rates regarding the population under the age of 14 have doubled over the previous year (2019), without gender differences, observing as well an acute increase in suicidal behaviors in adolescent females. Discussion: We emphasize the correlation between the increase in child and adolescent suicide with social factors (such as socio-economic, family and interpersonal situations), which have deteriorated due to the pandemic. Although child and adolescent suicide are often considered together, they seem to respond to different phenomena. The relationship between child and adolescent suicide and Social Media (SM) is complex. The use of SM increased during the pandemic as a coping mechanism to reduce the feeling of loneliness associated to social distancing; yet different studies associate it with a higher incidence of anxiety and depression symptoms. Depending on how SM show information about suicidal behaviors, they could act as a risk or protective factor. Conclusion: The situation that has resulted from the pandemic makes it necessary for us to reflect on the fragility of our minors and their attachment styles, and to address the problematic from a health and social perspective.Introducción: Tras la irrupción de la pandemia de COVID-19, la prevalencia de conductas suicidas y suicidios consumados entre la población infanto-juvenil española ha aumentado. Métodos: Se revisa narrativamente este fenómeno, así como los posibles factores implicados. Resultados: Se constata un aumento de suicidios consumados y consultas a Urgencias de Psiquiatría Infanto-Juvenil por conductas suicidas desde julio de 2020, dándose de forma similar en diversas localizaciones geográficas. Se observa una duplicación de los suicidios nacionales consumados en menores de 14 años respecto al año anterior (2019), sin diferencias de género, y un incremento acusado de las conductas suicidas en mujeres adolescentes. Discusión: Se destaca la relación de factores sociales (como la situación socioeconómica, familiar y relacional), deteriorados a raíz de la pandemia, con el aumento del suicidio infanto-juvenil. Si bien la tendencia es a agrupar el suicidio infantil con el adolescente, ambos parecen responder a una fenomenología distinta. En relación a los Medios de Comunicación Social (MCS) algunos estudios asocian su uso por adolescentes durante la pandemia con una reducción de la soledad, mientras que otros lo asocian a una mayor incidencia de ansiedad y depresión. Según muestren la información sobre conductas suicidas, los MCS pueden funcionar como factor de riesgo o de protección frente a las conductas suicidas. Conclusión: La situación generada tras la pandemia obliga a reflexionar en torno a la fragilidad y los estilos de apego de nuestra población menor, y a abordar la problemática desde una perspectiva sanitaria y social

    El lugar del niño en salud mental: clínica del sujeto vs. clínica de la enfermedad. La psico(pato)logización de la infancia

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    A reflection is made about the place of the child in the clinical practice. About the need to give them a place of speech which allows them to express and elaborate their demand, discomfort and suffering; a place of construction of their story, their narrative, in first-person statements. The importance of the function and value of the word and language, without reducing listening to a search for items to fit in a diagnosis, is highlighted. A subject approach versus an illness approach is defended. The need of understanding deficit and disorder as functional diversity and as creative mechanisms for reconstruction, adaptation and coping is pointed out. The psychopathologization and medicalization of the discomforts and problems of the child, which turn (with a biomedical preconception) conflictive or problematic behaviors or those that do not fit the norm into symptoms looking ad hoc for a diagnosis, are called into question. Meanwhile, due to ignorance and lack of resources, the child’s serious mental problems remain unsolved. Other approaches and new paradigms of conceiving and understanding the child’s psychic expression and discomforts, as well as other kinds of clinical intervention and other ways of dealing with child mental health care and assistance within the community framework, are needed.Se hace una reflexión acerca del lugar del niño en la clínica. De la necesidad de darle un lugar de palabra, que le permita expresar y elaborar su demanda, su malestar y su sufrimiento; un lugar de construcción de su historia, su narrativa, los enunciados en primera persona. Se señala la importancia de la función y el valor de la palabra y el lenguaje sin reducir la escucha a una búsqueda de ítems para cuadrar en un diagnóstico. Se defiende una clínica del sujeto frente a la clínica de la enfermedad. Se indica la necesidad de entender el déficit y el trastorno como diversidad funcional y como mecanismos creativos de reconstrucción, adaptación y afrontamiento. Se cuestiona la psicopatologización y medicalización de los malestares y problemáticas del niño, que convierten (con una concepción biomédica) los comportamientos conflictivos, problemáticos o que no encajan con la norma en síntomas en la busca ad hoc de un diagnóstico. Mientras, quedan sin resolver, por ignorancia y por falta de recursos, los graves problemas mentales del niño. Se hacen necesarios otros enfoques y nuevos paradigmas para concebir y entender la expresión psíquica y los malestares del niño, así como otras formas de intervención clínica y de afrontar los cuidados y la atención en salud mental infantil en el marco comunitario

    Derechos humanos en la atención a la salud materno-infantil: la integración de la salud mental perinatal

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    The fundamental right of every individual to enjoy the highest attainable standard of mental and physical health must be adequately ensured in maternal and child health care, the need for specific care of which is recognized both in the Convention on the Rights of the Child and the Convention on the Elimination of All Forms of Discrimination Against Women. However, significant deficiencies in providing comprehensive maternal and child health care, including perinatal mental health care, are evident in Spain, constituting a violation of the right to health for mothers and their daughters and sons. This paper analyzes the main shortcomings of the National Health System in adhering to the recommendations of the World Health Organization regarding perinatal mental health.El derecho esencial de toda persona al disfrute del máximo nivel de salud mental y física que resulte posible debe ser adecuadamente garantizado en la atención a la salud materno-infantil, cuya necesidad de cuidados específicos está reconocida a nivel de derechos humanos tanto en la Convención de los Derechos del Niño como en la Convención para la Eliminación de Todas las Formas de Discriminación contra la Mujer. Sin embargo, en España se advierten importantes deficiencias para ofrecer una atención integral a la salud materno-infantil que incluya la atención a la salud mental perinatal, lo que supone una vulneración del derecho a la salud de las mujeres que son madres y de sus hijas e hijos. En el presente trabajo se analizan las principales deficiencias del Sistema Nacional de Salud a la hora de ajustarse a las recomendaciones de la Organización Mundial de la Salud en materia de salud mental perinatal

    Una red social de acogida: el grupo multifamiliar

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    In the mental health care system, people who receive diagnoses of severe mental disorders run the risk of being considered and considering themselves as chronically ill and incurable, with the consequent loss of hope in the therapeutic process and the reduction of their agency. Multifamily groups welcome people with severe mental health problems and their families, generating a space for meeting and dialogue, encouraging the search for meaning in experiences of suffering, and strengthening supportive interpersonal ties. Thus, they make it possible to start a process of change and improvement, which involves the person and their environment. This article aims to reflect on the therapeutic potential of multifamily groups at an individual, family, and social level, from the experience of one of these groups existing in the public mental health care network.En el sistema de atención en salud mental, las personas que reciben diagnósticos de trastornos mentales graves corren el riesgo de ser consideradas y considerarse a sí mismas como enfermas crónicas e incurables, con la consiguiente pérdida de esperanza en el proceso terapéutico y la merma de su capacidad de agencia. Los grupos multifamiliares acogen a personas con problemas graves de salud mental y a sus familias, generan un espacio de encuentro y diálogo, y fomentan la búsqueda de sentido a las vivencias de sufrimiento y el fortalecimiento de los vínculos interpersonales sostenedores. De este modo posibilitan iniciar un proceso de cambio y mejoría que implica a la persona y a su entorno. En el presente artículo se pretende reflexionar sobre el potencial terapéutico de los grupos multifamiliares a nivel individual, familiar y social, desde la experiencia de uno de estos grupos existentes en la red pública de atención en salud mental

    En el centenario de la AEN-PSM

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    El 29 de diciembre de 1924 tuvo lugar en Barcelona la reunión fundacional en la que se constituyó la Asociación Española de Neuropsiquiatras. Hoy día, transcurridos cien años, merece la pena reflexionar sobre lo que ha supuesto tan larga trayectoria. Se trata de una Asociación que ha transitado desde la dictadura de Primo de Rivera, la Segunda República, la Guerra Civil, la dictadura franquista y la Transición democrática hasta el presente. Ha sufrido muy diversos avatares, con momentos de fortalezas y de debilidades, con refundaciones, como la de 1949 tras el hiato que supuso, tras la Guerra Civil, el intento de sustituirla por la Sociedad Española de Neurología y Psiquiatría. También con cambios de rumbo tan importantes como el que supuso “la toma de la AEN” en 1977 y con novedades en su estructura (con la creación de asociaciones autonómicas, por ejemplo) y en sus dinámicas en los últimos tiempos

    Psicopolítica del franquismo. Una novedosa aportación de conjunto a la historia de la psiquiatría y la sociedad en la España de Franco: Enric Novella, Las políticas de la locura. Psiquiatría y sociedad en la España de Franco.

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    Estamos ante un texto novedoso y de obligada lectura para quien quiera tener una visión de conjunto de la evolución de la psiquiatría en el franquismo, pero también para los historiadores y ciudadanos interesados en conocer el período político de la dictadura franquista. Y es que, tal y como se destaca en la presentación del libro, se nos ofrece “un relato fascinante sobre la imbricación recíproca entre la medicina y la política, descubriéndonos las distintas modalidades del régimen del franquismo”

    Derrida y la abolición incondicional de la pena de muerte: Jacques Derrida, La pena de muerte. Vol. I.

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    El seminario que Derrida dedicó a la pena de muerte en la École des Hautes Études en Sciences Sociales en París, los cursos 1999-2000 y 2000-2001, se enmarca en un proyecto filosófico más ambicioso organizado en torno a la cuestión de la responsabilidad, que se inició en 1996 con la hospitalidad, el perjurio y el perdón, y continuó entre 2001 y 2003 con la bestia y el soberano

    Evaluation of bone changes in the mandible after implant-supported overdenture prosthetic treatment in total edentulous patients with fractal analysis

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    Amaç: Tüm dişlerin kaybedilmesiyle beraber çiğneme kaslarının tonusu ve kas kütlesinde kayıplar meydana gelir, ısırma kuvveti azalır ve etkili bir çiğneme sağlanamaz. Total dişsizliğe sahip hastalar geleneksel total protezlerle tedavi edilse de, yeterli retansiyon ve stabiliteye sahip olmayan bu protezler etkili bir çiğneme sağlayamaz. Azalan çiğneme kuvvetiyle beraber, hastaların mandibulaya gelen fonksiyonel kuvvetleri azalır. İmplant üstü hareketli protez ile rehabilite edilen hastaların artan stabilite ve retansiyon sayesinde ısırma kuvvetleri ve çiğneme fonksiyonları artış gösterir. Kemiksel yapılar fonksiyonel kuvvetler ve mekanik ortamla harmoni içindedir. Bu nedenle, total dişsiz hastalarda mandibuladaki kemiksel yapıların mikro değişimi muhtemeldir. Çalışmamızın amacı, total protez kullanan alt ve üst çene tam dişsiz hastaların, mandibulaya yerleştirilen iki implant destekli overdenture protetik tedavisi sonrası mandibuladaki kemik değişikliklerinin değerlendirilmesidir. Materyal ve metot: Geleneksel total protez kullanmış, iki implant destekli overdenture protez ile tedavi edilen 27 hasta çalışmamızda yer aldı. Hastaların geleneksel total protez kullandıkları sıradaki radyogramları kontrol grubunu (n=27), iki implant destekli overdenture tedavisinden 4 yıl (±1 ay) sonraki radyogramları çalışma grubunu (n=27) oluşturdu. Hastaların retrospektif olarak tedavi öncesi ve sonrası kontrol veya rutin muayane ile elde edilen panoramik radyogramlarında her hastada sağ ve sol tarafta simetrik olarak seçilen ilgili alanlar (ROI-Region of Interest), mandibular kondil (ROI-1), angulus (ROI-2) ve mental foramenin anterioru (ROI-3) olmak üzere her bir tarafta 3 ROI 45x45 piksel boyutunda seçildi ve trabeküler kemik karmaşıklığı fraktal analiz yöntemi kullanılarak ölçüldü. Toplanan veriler istatistiksel olarak analiz edildi. Bulgular: Elde edilen bulgulara göre iki implant destekli overdenture protez kullanan hastaların seçilen ROI-1, ROI-2, ROI-3 fraktal boyut ölçümleri incelendiğinde kontrol ve çalışma grubu ölçümleri arasında istatistiksel olarak anlamlı farklılık bulunmuştur (p=0,001). Sağ ve sol bölgeler arasında; ROI-1, ROI-2 ve ROI-3 fraktal boyut ölçümünde istatistiksel olarak anlamlı fark bulunamamıştır (p=0,814), (p=0,654), (p=0,296). Sonuçlar: Elde ettiğimiz sonuçlar bize implant destekli overdenture protez kullanımının total protez kullanımına kıyasla mandibulada çeşitli bölgelerde daha kompleks trabeküler kemik yapıları meydana getirdiğini göstermektedir.Objective: The loss of all teeth results in a reduction in muscle tone and mass of the masticatory muscles, leading to decreased bite force and ineffective mastication. Although patients with total edentulism are treated with conventional complete dentures, these dentures often lack adequate retention and stability, thus failing to provide effective chewing function. As masticatory force decreases, the functional forces exerted on the mandible also diminish. Patients rehabilitated with implant-supported removable prostheses experience improvements in bite force and chewing function due to increased stability and retention. The bony structures are in harmony with functional forces and the mechanical environment. Therefore, microstructural changes in the mandibular bone are likely in totally edentulous patients. The aim of our study is to evaluate the mandibular bone changes in fully edentulous patients using conventional complete dentures, before and after prosthetic treatment with two implant-supported overdentures placed in the mandible. Materials and Methods: Our study included 27 patients who had previously used conventional complete dentures and were treated with two-implant-supported overdentures. Panoramic radiographs taken during the use of conventional complete dentures served as the control group (n=27), while radiographs obtained 4 years (±1 month) after two-implant-supported overdenture treatment formed the study group (n=27). Retrospective panoramic radiographs collected during pre- and post-treatment evaluations or routine examinations were analyzed. For each patient, three symmetric regions of interest (ROIs) were selected on both the right and left sides: the mandibular condyle (ROI-1), the angle of the mandible (ROI-2), and the area anterior to the mental foramen (ROI-3), with each ROI measuring 45x45 pixels. Trabecular bone complexity was assessed using the fractal analysis method. The collected data were statistically analyzed. Results: According to the findings, a statistically significant difference was observed in the fractal dimension measurements of the selected ROI-1, ROI-2, and ROI-3 between the control and study groups (p=0.001) in patients using two-implant-supported overdentures. However, no statistically significant difference was found between the right and left regions in the fractal dimension measurements of ROI-1, ROI-2, and ROI-3 (p=0.814), (p=0.654), and (p=0.296), respectively. Conclusions: Our results indicate that the use of implant-supported overdentures leads to more complex trabecular bone structures in various regions of the mandible compared to the use of conventional complete dentures

    Dilation of benign esophageal strictures with balloon/bougie; a single center experience

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    Aim: Narrowing in the esophagus caused by benign conditions such as peptic injury, surgical anastomosis, radiation therapy, Schatzki rings, esophageal webs, erosive injury and eosinophilic esophagitis are called benign esophageal strictures. In the treatment of benign esophageal stricture, endoscopic dilation with balloon or bougie is the first priority. Materials and Methods: The study included a total of 96 patients who were diagnosed with a benign stricture at the gastroenterology clinic of our university from May 2009 to October 2023. All patients were symptomatic, and their main complaint was dysphagia. The benign stricture was diagnosed through clinical examination, radiological imaging and endoscopy. Patient data were scanned retrospectively. The dilation method (bougie, balloon), the number of times the procedure was permormed and any potential complications were recorded. Stents were applied to patients who did not provide adequate dilatation. Results: A total of 96 patients were included in the study. Forty-seven (49%) of them were women and 49 (51%) were men. The average age was 48±17 years (the youngest was 18, the oldest was 81). A total of 198 dilation procedures were performed on 96 patients. The average follow-up period was 79±54 (1-179) months. Srictures were divided into 4 groups according to etiology as anastomotic stricture, peptic stricture, caustic stricture and post-radiotherapy stricture. Of the cases with stricture, 76 (79.2%) underwent bougie dilation, 26 (27.1%) underwent balloon dilation, 5 (5.2%) underwent bougie and then balloon dilation, and in 5 (5.2%) cases, metallic stent was placed due to failed dilations. Conclusion: This study shows the effectiveness of bougie and/or balloon dilation in treating most of the patients with benign esophageal strictures, with a low complication rate. It is less invasive, comfortable and cost-effective than the alternative surgical approach

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