Multiple Osteomas of Mandible in a Patient with Gardner’s Syndrome - Report of a Case

Introduction: Osteomas are benign tumors of the bone usually seen in craniofacial bones which arise from either the cortex or medulla. They are usually asymptomatic with slow painless growth. Multiple osteomas are often associated with Gardners syndrome. Solitary osteomas are typically non syndromic. Case Presentation: The patient presented with remarkable facial asymmetry following the growth in the mandible. Multiple os- teomas were noted which invoked suspicion of a syndrome. On endoscopic evaluation the patient was found to have multiple intestinal polyps, pathgnomonic for Gardners syndrome. Management and prognosis: The lesion was surgically removed under local anaesthesia. as an excisional biopsy and the asymmetry was rectified. Histopathologic examination revealed it to be ivory osteoma with dense compact bone and less mar- row spaces. The jaw lesions would precede the development of colonic polyps and therefore may contribute to early diagnosis of Gardner’s syndrome. There is also a chance of malignant evolution associated with the polyps Conclusion: People with the condition have a higher risk of developing other family adenomatous polyp (FAP)related cancers including pancreatic cancer and liver cancer. The patient should be in close follow up

Effectiveness of Counseling Based on Functional Analytic Psychotherapy with Enhanced Cognitive Therapy on the Sexual Quality of Life of Married Adolescent Women / Eficácia do aconselhamento baseado em psicoterapia analítica funcional - Com abordagem de terapia cognitiva aprimorada (FECT) na qualidade de vida sexual de mulheres adolescentes casadas

Abstract Objective Early marriage has many deleterious effects on the health of girls, such as sexual dissatisfaction, an inevitable result of the lack of sufficient knowledge about sexual issues at the time of the marriage. The goal of the present study was to determine the effectiveness of counseling based on functional analytic psychotherapy with enhanced cognitive therapy (FECT) on the sexual quality of life of married adolescent women. Methods This clinical trial was conducted between July and October 2019 on 150 married adolescent women who met the inclusion criteria. In the intervention group, FECTwas conducted in sixteen 90-minute sessions twice a week. The Sexual Quality of Life-Female (SQOL-F) questionnaire was used. When the study ended, the control group was given the choice of receiving the same intervention as the intervention group. Results The paired t-test showed a significant difference between the mean score of sexual quality of life before (52.33±23.09) and after (88.08±10.51) counseling in the intervention group (p<0.0001). According to the analysis of covariance, there was a significant difference between the score on sexual quality after counseling between the intervention (88.08±10.51) and control (60.32±23.73) groups (p<0.0001). There was also a significant difference between the mean score on the four dimensions of sexual quality of life in the intervention group (p<0.0001). Conclusion The results showed that counseling based on FECT improved the sexual quality of life in all dimensions in married adolescent women.

Resumo Objetivo O casamento precoce tem muitos efeitos deletérios sobre a saúde das meninas, como a insatisfação sexual, resultado inevitável da falta de conhecimento suficiente sobre questões sexuais no momento do casamento. O objetivo do presente estudo foi determinar a eficácia do aconselhamento baseado em psicoterapia analítica funcional com terapia cognitiva aprimorada (FECT) na qualidade de vida sexual de mulheres adolescentes casadas. Métodos Este ensaio clínico foi realizado entre julho e outubro de 2019 em 150 mulheres adolescentes casadas que preencheram os critérios de inclusão. No grupo de intervenção, FECT foi realizado em dezesseis sessões de 90 minutos duas vezes por semana. Foi utilizado o questionário Sexual Quality of Life-Female (SQOL-F). Quando o estudo terminou o grupo de controle teve a opção de receber a mesma intervenção do grupo de intervenção. Resultados O teste t pareado mostrou diferença significativa entre o escore médio da qualidade de vida sexual antes (52,33±23,09) e após (88,08±10,51) o aconselhamento no grupo intervenção (p<0,0001). De acordo com a análise de covariância houve diferença significativa entre o escore de qualidade sexual após aconselhamento entre os grupos intervenção (88,08±10,51) e controle (60,32±23,73) (p<0,0001). Também houve diferença significativa entre a pontuação média nas quatro dimensões da qualidade de vida sexual no grupo de intervenção (p<0,0001). Conclusão Os resultados mostraram que o aconselhamento baseado no FECT melhorou a qualidade de vida sexual em todas as dimensões em mulheres adolescentes casadas.

Familial Adenomatous Polyposis Coli in East Africa: A Case Report and Review of the Literature

Introduction: Familial adenomatous polyposis (FAP) is a rare diagnosis in East Africa. The author reports a case of a 21 year old gentleman presenting with occasional passage of blood stained stool, and found to have familial adenomatous polyposis coli. This is followed by a literature review on the pathogenesis, clinical features and treatment options of FAP in East Africa.Presentation of Case: This patient presented with a strong family history of familial adenomatous polyposis, blood stained stool and a rectal mass. A total proctocolectomy and ileoanal anastomosis was carried out. The postoperative course of this patient was uneventful.Discussion: The typical gross pathological and histological features of familial adenomatous polyposis and rectal adenocarcinoma were seen on the resected colorectal specimen. In addition this study reviews the literature regarding the clinical presentation, pathological characteristics and treatment options of familial adenomatous polyposis coli.Conclusion: FAP should always be considered in a young patient presenting with a strong family history of CRC. Colonoscopy should be performed on these patients with early symptoms and those patients with a strong family history of FAP. In East Africa, the creation of a permanent stoma is unacceptable and therefore a proctocolectomy and Brooke ileostomy will not be a desirable option in a young patient in this part of the world

Reconstrucción facial con colgajo de músculo temporal posexenteración orbitaria / Facial reconstructon with temporalis muscle fap afer orbital exenteraton

La exenteración orbitaria y la maxilectomía son cirugías que conducen a pérdidas funcionales y estéticas. Representan un reto reconstructivo. El colgajo de músculo temporal es un colgajo versátl y seguro en la cirugía plástica. Fue descripto por primera vez por Lentz en 1895. En 1898, Golovine describió este colgajo para la reconstrucción de un defecto posexenteración de órbita y, en 1948, lo hizo Campbell con respecto a una reconstrucción posmaxilectomía6. El objetivo es presentar nuestra experiencia con el uso de colgajo de músculo temporal pediculado, como una alternativa válida en reconstrucciones posmaxilectomía y exenteración orbitaria asociada a carcinoma de células escamosas. Se presentan dos casos de tumores gigantes por carcinomas de células escamosas en órbita y malar con compromiso periorbital, reconstruidos con colgajo de músculo temporal pediculado, asociado a un injerto de piel, en dos instituciones públicas en la ciudad de Mendoza, República Argentina. El estudio incluyó dos pacientes de sexo femenino, de 71 y 58 años de edad. Ambos tumores comprometan tanto la región orbitaria como la periorbitaria y malar. La anatomía patológica arrojó como resultado carcinoma de células escamosas. La reconstrucción se logró con colgajo de músculo temporal pediculado e injerto de piel. Las complicaciones informadas en la literatura, como la necrosis del colgajo o el injerto, fistulas orbitales, o parálisis facial7, no se registraron en nuestros casos. A la primera paciente se le ofreció radioterapia posoperatoria por presentar resección R1. En la segunda paciente la resección fue R0. El uso de colgajo de músculo temporal pediculado más injerto de piel es una opción importante para la reconstrucción facial posmaxilectomía asociada a exenteración orbitaria. Permite cubierta y relleno de la zona, con resultados estéticos y de reparación aceptables, y es una alternativa válida al uso de colgajos libres, con una curva de aprendizaje más baja y una tasa de complicaciones aceptables.

Orbital exenteraton and maxillectomy result in functonal and aesthetic loss, representing a challenge for reconstructive surgeons. The temporalis muscle fap is a versatle and safe opton for plastic surgery. It was frst described by Lentz in 1895. In 1898 Golovine described this fap for the reconstructon of the defect afer exenteraton of the orbit. In 1948 Campbell described itis use for the reconstructon of a defect afer a maxillectomy6. Our objective was to report the use of pedicle temporalis fap for post-maxillectomy reconstructon and associated orbital exenteraton due to squamous cell carcinoma. We report on two cases of giant tumors due to squamous cell carcinomas of the skin with orbital, periorbital and malar involvement. Reconstructon was done with a temporalis fap associated with a skin graf. The study included two female patentis, aged 71 and 58 years, respectively, afected by a tumor involving he orbital, periorbital and malar regions. Histology confirmed squamous cell carcinoma. Reconstructon was done with a temporal pedicle and a skin graf. No morbidity or mortality occurred. The frst patent underwent radiotherapy postoperatively, as the resecton was R1. Resecton for the second patent was R0. Pediculated temporal muscle fap plus a skin graf is a valid opton for post-maxillectomy reconstructon with associated orbital exenteraton. It allows covering and flling of the area, with acceptable aesthetic and repair Results, posing an alternative to the use of free faps with a lower lear-ning curve and a lower complicaton rate.

Risk perception in subjects at-risk for Familial Amyloidotic Polyneuropathy / Percepción del riesgo en sujetos con riesgo de Polineuropatía Amiloide Familiar

Abstract The aims of this study are to know if subjects at-risk were aware of their 50% risk for Familial Amyloidotic Polyneuropathy (FAP); to know the value of the subjective risk; to understand the association between sociodemographic characteristics and risk perception, and between the risk status and the subjective perception of risk. 174 subjects 50% at-risk for FAP were tested. 52.9% subjects at-risk were aware of their 50% risk condition. The mean value of the subjective risk was higher and closer to 50% when the subjects were aware of their 50% risk condition. Education was associated to a higher awareness of being at 50% risk. It seems that information on previous knowledge before performing the genetic counselling increases the subjective risk.

Resumen Los objetivos de este estudio son saber si los sujetos en riesgo eran conscientes de su riesgo del 50% para la polineuropatía amiloide familiar (PAF); conocer el valor del riesgo subjetivo; y comprender la asociación entre las características sociodemográficas y la percepción del riesgo y entre el riesgo real y la percepción subjetiva del riesgo. Se examinaron 174 sujetos con riesgo de PAF del 50%. 52,9% de los sujetos en riesgo eran conscientes de su condición de riesgo del 50%. El valor medio del riesgo subjetivo fue mayor y más cercano al 50% cuando los sujetos eran conscientes de su condición de riesgo del 50%. La educación se asoció a una mayor conciencia de estar al 50% de riesgo. Parece que la información sobre los conocimientos previos antes de realizar el asesoramiento genético aumenta el riesgo subjetivo.

Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases

El papel del psicólogo clínico en el contexto del consejo genético incluye brindar apoyo a los sujetos en riesgo en el proceso de toma de decisiones, independientemente de la decisión adoptada por el sujeto (conociendo o no el resultado de las pruebas genéticas). El estudio que se informa aborda la motivación para realizar las pruebas pre-sintomáticas (PPS) de sujetos en situación de riesgo para tres enfermedades: polineuropatía amiloide familiar (PAF), la enfermedad de Huntington (EH) y la enfermedad de Machado-Joseph (EMJ) y comparar con la motivación para realizar las PPS para hemocromatosis (HH). La muestra consistió en 213 sujetos portugueses que tenían riesgo genético para contraer las tres enfermedades y 31 sujetos en situación de riesgo genético para contraer hemocromatosis. Ellos fueron evaluados con una entrevista para obtener datos sociodemográficos y debían responder a una pregunta sobre la motivación para llevar a cabo las pruebas pre-sintomáticas. Se obtuvieron siete categorías principales y las siguientes son las más significativas para PAF, EH y EMJ: razones relacionadas con el futuro, razones relacionadas con los demás y razones relacionadas con la curiosidad y la necesidad de conocer. Para hemocromatosis, las más importantes resultaron ser razones relacionadas con los demás y las relacionadas con las características de la enfermedad. La motivación para realizar el test pre-sintomático (PST) de la PAF, EH y EMJ es externa y sin relación con la enfermedad, mientras que la motivación de los sujetos en situación de riesgo para la HH está relacionada con la enfermedad. Las razones relacionadas con los demás es una motivación común en ambos grupos. A los sujetos también les preocupa la posibilidad de transmitir la enfermedad a sus hijos.

The role of the clinical psychologist in the context of genetic counseling includes support for the process of decision-making for subjects at-risk, regardless of the decision that was made. For this, it is important to know the motivations behind these decisions. What may be considered advant-ageous and justifiable reasons to perform the PST for genetic diseases from the medical and public point of view, i.e., planning for the future, helping in the choice of a profession, family planning, improving quality of life and contributing to health, may not be recognized as such by the individual seeking the PST. This study addresses the motivation to perform the presymptomatic testing (PST) of subjects at-risk for three diseases, Familial Amyloid Polyneuro pathy (FAP), Huntington's disease (HD), and Machado-Joseph disease (MJD), compared with the motivation to perform the PST for Hemochromatosis (HH). FAP, HD and MJD are three genetic (monogenic) autosomal dominant late-onset diseases (LON-Ds) with no cure. FAP is a progressive sensorimotor and autonomic neuropathy of adult hood. HD is characterized by a triad of clinical symptoms of chorea (motor, cognitive and psychiatric symptoms), emotional distress and cognitive decline. MJD is characterized by slowly progressive clumsiness in the arms and legs, a staggering lurching gait, sometimes mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, and may be accompanied by double vision or bulging eyes, and lower limb spasticity. HH is a disease in which too much iron accumulates in parenchymal organs, leading to iron overload and subsequent organ toxicity and failure. The study participants consisted in 213 subjects at genetic risk for FAP, HD, and MJD and 31 subjects at genetic risk for HH, that were assessed through an interview to obtain sociodemographic data and the answer to one question about motivation to perform PST: "Which were the reasons that led you to perform the predictive test? "This study was carried out in Center for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), Porto (Portugal). This research used a mixed-method, since qualitative and quantitative techniques of data analysis were used. Before deciding to seek genetic counseling and to know their genetic status, subjects at-risk have naturally considered their motives and it was probably the pro-counseling reasons the ones dictating the motivation to perform the PST. This may suggest that in fact there is a prior self-selection to the test, i.e. only those considering to have emotional skills to go through the process, performing the test. Seven major categories were obtained. The most significant ones for FAP, HD and MJD were reasons related to the future, reasons related to others and reasons related to curiosity and to the need to know. For HH, the most important ones were reasons related to others and reasons related to the characteristics of the disease. The motivation of subjects at-risk to perform the PST for FAP, HD and MJD is external and unrelated to the disease, while the motivation of subjects at-risk to perform the PST for HH is related to the disease. Reasons related to others area common motivation: as subjects at-risk for FAP, HD and MJD, subjects at-risk for HH also chose reasons related to others as one of the most important motivations to carry out the PST. These subjects also care about the fact that they can transmit the disease to their children and care about other family members which are already ill. The category reasons related to others includes sub-categories that identify the person and the situation that led to the decision to perform a PST. Subjects at-risk are also concerned about the fact that they have to decide whether or not to have children and its economic implications.

A especificação do responder contingente do terapeuta na psicoterapia analítica funcional / Specifying the therapist contingent responding in the functional analytic psychotherapy

O responder contingente do terapeuta aos comportamentos clinicamente relevantes (CRB) do cliente consiste no mecanismo de mudança clínica na Psicoterapia Analítica Funcional (FAP). Os procedimentos clínicos são resumidos em cinco regras para o terapeuta, que têm o objetivo de maximizar a frequência de ocorrência de CRBs. A interação lógica da FAP apresenta as cinco regras desdobradas em 12 passos, os quais descrevem as respostas do terapeuta e seus efeitos no comportamento do cliente. Apesar dos avanços no refinamento da descrição da FAP e da validação empírica de seu mecanismo de mudança clínica, a tarefa de especificar o responder contingente do terapeuta permanece inacabada. O objetivo deste artigo é apresentar a interação lógica e discuti-la propondo alternativas de operacionalização do responder contingente do terapeuta aos comportamentos clinicamente relevantes relacionados ao problema clínico. O método consistiu em examinar os passos da interação lógica da FAP para hipotetizar alternativas de ação para o terapeuta em resposta ao comportamento problema que ocorre na sessão. Quatro alternativas de resposta do terapeuta são listadas e exemplificadas com verbalizações extraídas de registros de interações terapeuta/cliente. Discutem-se os possíveis efeitos indesejáveis provocados pela descontinuidade do reforço ao comportamento problema e sugerem-se questões para estudos futuros...

The therapist contingent responding to clinically relevant behaviors (CRB) corresponds to Functional Analytic Psychotherapy (FAP) mechanism of change. The clinical procedures are summarized in five rules to therapists, which aim to maximize the frequency of CRBs. FAP logical interaction presents the five rules deployed in 12 steps, which describe therapist's behaviors and their effects on client's behaviors. Despite of the advances reached through refinement in FAP description and the empirical validation of FAP' mechanism of change, the task of specifying therapist contingent responding is still unfinished. The purpose of this paper is to present FAP logical framework and discuss proposing an operationalization alternative to the therapist contingent responding to clinically relevant behaviors related to the clinical problem. The methods consisted in examining FAP logical framework steps to elucidate courses of actions for the therapist in response to the clinical problem. Four courses of action for the therapist are listed and illustrated with verbalizations extracted from recordings of client-therapist interactions. Possible undesirable effects caused by the discontinuing of reinforcement are discussed and questions for future studies are suggested...

Quando o responder antigo torna-se um comportamento novo: descrição de um processo de mudança clínica / When the old responding turns into a new behavior: describing a clinical change process

Supondo que a mudança clínica está estreitamente relacionada ao tipo de classe que é enfraquecida ou fortalecida, conforme a sistematização feita pela Psicoterapia AnalíticaFuncional (FAP), recorreram-se aos conceitos de Modelagem, Diferenciação e Indução para analisar e discutir um processo de mudança comportamental na clínica. O objetivo do estudo foi descrever um processo de mudança clínica em que a classe de resposta considerada problema transforma-se em uma classe de resposta relacionada à melhora. O método consistiu em analisar 15 sessões iniciais realizadas com uma cliente atendida em uma clínica-escola pública. Os resultados expõem quatro dimensões identificadas, as quais foram sendo diferenciadas ao longo do processo terapêutico. Discutiu-se o processo de mudança clínica, considerando dimensões do responder que sofreram diferenciaçãodo longo da terapia.

The main assumption of this study was that clinical change is related to a response class that lacks strength while another gains it, according to the Functional Analytic Psychotherapy (FAP). The concepts of Modeling, Differentiation and Induction were used to analyse and to discuss a clinical change process. The aim of this study was to describe a clinical change process in which theso-called problematic response turns into a type of response related to improvement. Clinical relevant behaviors (CRB) were registered in protocols, filed in during each session by the therapist and by a trained observer. Then, CRB was examined in order to identify the dimensions that were being selected within sessions until a new operant class had been installed. The results show four dimensions that were being differentiated during the therapy. The clinical change processwas discussed, considering the dimensions of response that suffered differentiation and the relevance of the client/therapist relationship in such change.

The Mycobacterium avium subsp. paratuberculosis fibronectin attachment protein, a toll-like receptor 4 agonist, enhances dendritic cell-based cancer vaccine potency

In this study, we showed the direct interaction between Mycobacterium avium subsp. paratuberculosis fibronectin attachment protein (FAP) and toll-like receptor4 (TLR4) via co-localization and binding by using confocal microscopy and co-immunoprecipitation assays. FAP triggered the expression of pro- and anti-inflammatory cytokines in a TLR4-dependent manner. In addition, FAP-induced cytokine expression in bone marrow-derived dendritic cells (BMDCs) was modulated in part by glycogen synthase kinase-3 (GSK-3). FAP-induced expression of CD80, CD86, major histocompatibility complex (MHC) class I, and MHC class II in TLR4+/+ BMDCs was not observed in TLR4-/- BMDCs. Furthermore, FAP induced DC-mediated CD8+ T cell proliferation and cytotoxic T lymphocyte (CTL) activity, and suppressed tumor growth with DC-based tumor vaccination in EG7 thymoma murine model. Taken together, these results indicate that the TLR4 agonist, FAP, a potential immunoadjuvant for DC-based cancer vaccination, improves the DC-based immune response via the TLR4 signaling pathway.

Open Versus Laparoscopic Total Proctocolectomy with Ileal Pouch Anal Anastomosis for FAP / 대한내시경복강경외과학회지

PURPOSE: Restorative proctocolectomy with an ileal pouch anal anastomosis (IPAA) is the main surgical treatment for patients with familial adenomatous polyposis (FAP). With the advancements of minimal-invasive surgery, proctocolectomy with an ileal pouch anal anastomosis is increasingly being done by laparoscopic methods. This report aims to compare the presumed benefits of the laparoscopic approach with that of open surgery. METHODS: We reviewed 25 patients who underwent total proctocolectomy with IPAA between 1994 and 2009. The data of 9 patients who underwent laparoscopic surgery was analyzed and compared with the data of 16 patients who underwent the conventional open surgery. RESULTS: Laparoscopic proctocolectomy with an ileal pouch anal anastomosis (IPAA) was performed successfully without severe complications in 9 patients. The mean operation time of the laparoscopic group was 352 min, and this was significantly longer than that of the conventional group (252 min). The mean intra-operative blood loss, time to first flatulance, the hospital stay and the time to starting an oral diet were not significantly different from that of the open group. CONCLUSION: Laparoscopic IPAA is a feasible and safe procedure due to the reduced trauma and pain and a more favorable cosmetic result. As the technique and instrumentation for laparoscopic colon surgery are developed, this procedure will likely become an appealing option for the management of patients with FAP.

Efeitos de um treino em psicoterapia analítica funcional sobre a identificação feita pelo terapeuta de comportamentos clinicamente relevantes de seu cliente / The effects of a functional analytic psychotherapy training on the therapist’s identification of clinical relevant behaviors

O presente artigo relata um estudo que investigou o efeito de um treino, com supervisões de acordo com a Psicoterapia Analítica Funcional (FAP) sobre a identificação feita pelo terapeuta de comportamentos clinicamente relevantes de seu cliente. O método consistiu de um delineamento A/B aplicado a 15 sessões de psicoterapia. As sessões foram conduzidas por um terapeuta iniciante e um cliente cujo problema clínico estava centrado em dificuldades interpessoais. Nas cinco sessões iniciais o terapeuta em treino recebeu uma supervisão convencional e leu literatura sobre assertividade. A partir da quinta sessão o terapeuta recebeu a supervisão conforme a FAP. Os principais componentes da supervisão foram o preenchimento de um questionário (FIAT), que investiga padrões de comportamento interpessoal, a modelagem direta pelo supervisor no aqui/agora da supervisão de comportamento interpessoais relevantes para a terapia, a indicação de bibliografia sobre a FAP e discussão das leituras, além de esclarecimentos acerca dos comportamentos clinicamente relevantes do cliente. Os resultados indicaram que após a introdução da FAP, o participante tendeu a indicar mais comportamentos do cliente relacionados à melhora e mais verbalizações de autoconhecimento, enquanto que as indicações dos comportamentos relacionados ao problema tenderam a decrescer ao longo das sessões. Os resultados sugerem que o terapeuta passou a indicar dimensões do comportamento de seu cliente que iam além do problema clínico. Tais resultados foram discutidos em termos das contribuições da FAP para a promoção da mudança clínica que se torna mais viável quando as dimensões comportamentais que possibilitam a modelagem direta na sessão são percebidas pelo terapeuta.

This article reports a study that investigated the effect of supervision of Functional Analytic Psychotherapy (FAP) on the therapist’s identification of client’s clinically relevant behaviors (CRB). The method consisted of an A/B design applied to 15 psychotherapy sessions. The sessions were conducted by a trainee therapist and his client whose clinical problems centered on interpersonal difficulties. During the five sessions, the therapist received traditional supervision and read additional material relevant to assertive behaviors. Since the 5th session the therapist received supervision in conducting FAP. The main supervision components were: 1) complete an idiographic questionnaire (FIAT) comprising five interpersonal behavior patterns; 2) the direct shaping of therapist behaviors, conducted by supervisor during the supervision session, focusing the relevant interpersonal behaviors for the therapy; 3) directing readings about FAP and a discussion of those readings; 4) and clarifications about the client’s CRB. The results indicated that after the FAP introduction, the therapist tended to recognize and report more client behaviors related to clinical change and also made more verbalizations related to self-knowledge; while the indications of behaviors related to the clinical problem tended to decrease through sessions. The results indicated that the therapist tended to perceive new dimensions of the client’s behavior. Such data were discussed in terms of the FAP contribution for promoting clinical change; that is, clinical change is more likely if those dimensions can be noticed and used by the therapist in directly shaping in-session client behaviors.

Métodos de investigación molecular en la detección de mutaciones germinativas en cáncer colorrectal hereditário / Molecular research methods in the detection of germinal mutations in hereditary colorectal cancer

El cáncer colorrectal (CCR) es una de las principales causas de muerte por neoplasia en países sudamericanos. Las formas hereditarias de CCR son, poliposis adenomatosa familiar (FAP) y cáncer colorrectal hereditario sin poliposis (HNPCC) o Síndrome de Lynch (SL), que es la forma más común. La detección de mutaciones en los genes de reparo de ADN (MMR) y en el gen APC permite el desarrollo de estrategias de prevención. Algunas de estas metodologías de diagnóstico molecular son aplicadas para la investigación y detección de mutaciones en estos genes, tales como el Test de la Proteína Truncada (PTT), Análisis de polimorfismos de conformación de cadena simple (SSCP), Cromatografia liquida desnaturante de alta performance (DHPLC) y Reacción en Cadena de la Polimerasa (PCR) en tiempo real (qPCR).

Colorectal cancer (CRC) is one of the main causes of death in South American countries. The hereditary forms of CRC are, familial adenomatous (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome (LS), which is the most common form. The detection of mutations in the DNA repair genes (MMR) and in the APC genes enables the development of prevention strategies. Some of these methods for molecular diagnosis are applied in research and the detection of mutations of these genes, such as the partial thromboplastin time test (PTT), the single strand conformational polymorphism test (SSCP), the Denaturing High Performance Liquid Chromatography test (DHPLC) and the Polymerase Chain Reaction (PCR) in real time (qPCR).

Psychiatric Considerations on Pediatric Psychosomatic Disorders with Gastrointestinal Symptoms / 대한소아소화기영양학회지

Gastrointestinal (GI) symptoms in children and adolescents are influenced by diverse psychiatric components such as psychosocial stresses, familial environment, school-related situations, and comorbid psychiatric conditions. Absolutely psychiatric symptoms of pediatric patients are also affected by problems of GI system. Lots of symptoms including anorexia, dyspepsia, nausea and so on are commonly originated from either GI or psychiatric causes or both. Sometimes the negative interactions between GI and psychiatric problems aggravate the severity and eventually decline the functions of children and adolescents with GI symptoms. We summarized the common GI and psychiatric conditions which have GI and psychiatric associations. To a clinician who manages pediatric GI disorders, psychiatric considerations can be beneficial to understand the clinical manifestations of patients and to find the way to relieve them. This short and somewhat superficial review may help to have a bird's-eye view on this topic.

Expression and significance of FasL and FAP-1 in acute myeloid leukemia / 白血病·淋巴瘤

Objective To explore the expression of the mRNA level of Fas (CD95) ligand/FasL and Fas-associated phosphatase-1/FAP-1 in acute myeloid leukemia. Methods The expression of FasL and FAP-1 were detected in 54 patients with AML and 10 normal subjects by semi-quantitative reverse transcriptase-polymerase chain reaction (RT-PCR). β-actin used as internal reference. The changes of FasL was observed after induction chemotherapy in 16 AML patients. The expression of Fas was detected in 54 patients with AML by flow cytometry. Results The mRNA levels of FasL and in 54 patients were remarkably higher(P 0.05). The mRNA levels of FAP-1 in 54 patients was remarkly higher than that of the normal control. 8/29 cases in Fas-positive group were positive for FAP-1 mRNA expression. 19/25 cases in the Fas-refractory group didn't express FAP-1 mRNA. Conclusion The expression of FasL was high in AML. The rates of complete remission were high in FasL positive cases. The FasL level declined in patients with good response to therapy. The expression of FAP-1was partly expressed in AML. The expression of FAP-1 was less in Fas positive group.

Aplicación clínica de modelos terapéuticos no mediacionales en un caso de trastorno mixto del afecto / Clinical Implementation of Non Mediational Therapeutic Models in a Mixed Affective Disorder Case

El presente artículo expone un estudio de caso siguiendo la formulación analítica conductual y los componentes y principios de la intervención conductual planteados por la Terapia de Aceptación y Compromiso y la Psicoterapia Analítica Funcional, que retoma la importancia de la conducta verbal y sus características al momento de formular e intervenir en casos como el de un joven que acude a consulta psicológica con diagnóstico de trastorno depresivo y ansiedad por déficit en habilidades sociales, como en el presente caso en particular. Los resultados señalan la utilidad terapéutica de las estrategias empleadas, especialmente en el componente de compromiso y autocontrol que el consultante desarrolló. Discute además la pertinencia de abordar el caso clínico con énfasis en procesos cognitivo-verbales, desde modelos terapéuticos no mediacionales.

This paper presents a case study following the analytical formulation and behavioral components and principies of the behavioral intervention posed by Acceptance and Commitment Therapy and Functional Analytic Psychotherapy, which takes up the importance of verbal and their characteristics when formulating and in-tervening on cases such as the one of a young man who goes to psychological consultation with a diagnosis of depressive disorder and anxiety for déficits in social skills, as in this particular case. The results indícate the usefulness of the therapeutic strategies employed, particularly in the component of commitment and self-control that the consultant developed. The relevance of addressing the case with an emphasis on cognitive processes like verbal processes is discussed, from the use of non mediational therapeutic models.

Coexistence of the Renal Fibromuscular Dysplasia and Familial Adenomatous Polyposis / 대한신장학회지

Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular disease that most commonly affects the renal and internal carotid arteries. A Familial adenomatous polyposis (FAP) is characterized by hundreds of adenomatous colorectal polyps, with an almost inevitable progression to colorectal cancer. A 19-year-old woman with history of total colectomy as a result of familial adenomatous polyposis presented with high blood pressure incidentally. Abdominal CT scan showed "string of beads" appearance of right renal artery. Percutaneous transluminal renal angioplasty was performed and then hypertension was improved. To our knowledge, there has been no previous case report of secondary renovascular hypertension resulting from fibromuscular dysplasia in patients with FAP. Here, we report a patient with a review of the literature.

Laparoscopic Total Proctocolectomy with Ileal pouch-anal Anastomosis for Patients of Familial Adenomatous Polyposis with or without Coexisting Colorectal Cancer

PURPOSE: Familial adenomatous polyposis (FAP) normally appears in the early twenties and needs a restorative total proctocolectomy with ileal pouch-anal anastomosis (TPC/ IPAA). Thus, most patients with FAP are young, in socially active stage, and very concerned about their body image. Vast experience with laparoscopic colorectal surgery led us to perform laparoscopic-assissted TPC/IPAA for patients with FAP with or without cancer, and we evaluated the results from technical and oncologic aspects. METHODS: Seventeen of 20 FAP patients underwent laparoscopic- assisted surgery between July 1996 and June 2004. All procedures were done in a totally laparoscopic, a laparoscopic-assisted, or a hand-assisted laparoscopic fashion. RESULTS: Fifteen patients underwent laparoscopic-assisted TCP/IPAA; two others had a total colectomy with ileorectal anastomosis and a TCP with permanent ileostomy laparoscopically. Eight patients showed coexisting colorectal cancers. The mean operation time was 396.5 min. Patients passed flatus or liquid at the 2.2 post-operative day (POD), resumed meals at the 4th. POD, and were discharged at the 10th. POD. There were no intra-operative complications or open conversions. Post-operative complications occurred in 5 different patients. One patient with colon cancer had multiple hepatic metastases at 11 months after the operation and died at 24 months after the operation. CONCLUSIONS: Laparoscopic-assisted surgery for the patients with FAP was technically feasible and could be an alternative method. The systematized and experienced approach could reduce a operation time to be acceptable. In selected cases and with a vast of experience, coexisting colorectal cancer would not be contraindicated for laparoscopic approach for the treatment of FAP.

Clinical Analysis for 30 Cases of Total or Subtotal Abdominal Colectomy and Total Proctocolectomy

PURPOSE: A total or a subtotal abdominal colectomy and a total proctocolectomy are performed occasionally for the surgical treatment of familial adenomatous polyposis, multiple colorectal cancers, ulcerative colitis, acute lower GI bleeding, and malignancy other than colorectal cancer. We studied 30 cases of patients who received either a total or a subtotal abdominal colectomy and a total proctocolectomy in one of the three hospitals affiliated with the Catholic University between January 1990 and December 2001. Our goal was to determine whether the total or subtotal abdominal colectomy and the total proctocolectomy are difficult and complicated procedures by comparing the mortality, the morbidity, the survival rate, and the complications to previously considered and reported results. METHODS: Thirty patients treated with either total or subtotal abdominal colectomy and with a total proctocolectomy from January 1990 to December 2001 were chosen for this study. Their gender, age, underlying diseases, family history, hospital days, symptoms, changes in defecation habits following the procedure, complications, mortality, survival rate, and relationship to malignancy were evaluated. RESULTS: Of the patients who received either total or subtotal abdominal colectomy and a total proctocolectomy, the average age was 44.6 years, the gender ratio was 1:1, and the underlying diseases were familial adenomatous polyposis (FAP) (43%), ulcerative colitis (UC) (20%), multiple colorectal cancers (17%), stomach cancer (7%), and Crohn's disease (3%). Diarrhea and rectal bleeding were the most common clinical symptoms, and abdominal pain and intestinal obstruction were frequently observed. A total proctocolectomy (TPC) with permanent ileostomy was the most frequently performed procedure (47%), and a TPC with ileoanal anastomosis was done in 10% of the cases. A total abdominal colectomy (TAC) with ileorectal anastomosis was applied in 23% of the cases, and subtotal abdominal colectomy (sTAC) with ileosigmoidal anastomosis was done in 20% of the cases. The operative mortality rate was 3% as one patient among thirty died. Postoperative complications developed in 33% of the patients. FAP and UC patients without cancer (45%) survived for over 4 or 5 years, but FAP and UC patients with cancer, especially an adenocarcinoma, survived for only 2.5 years. CONCLUSIONS: A total or subtotal abdominal colectomy (TAC or sTAC) and a total proctocolectomy (TPC) are appropriate procedures with low mortality, low morbidity, and a low complication rate for several kinds of diseases. A TPC with ileorectal anastomosis is the procedure of choice for sparing the rectum in FAP and UC patients without coexisting cancer and without mutation of the APC gene after codon 1250, but a TPC with ileoanal anastomosis is recommended if there is a mutation of the APC gene after codon 1250. A TPC with ileostomy is the preferred method for FAP and UC patients with coexisting cancer.

Comparison of the Result of Restorative Proctocolectomy and Ileal Pouch-anal Anastomosis in Familial Adenomatous Polyposis and Ulcerative Colitis

PURPOSE:The aim of this study was to compare the early postoperative results and the long-term outcome of restorative proctocolectomy and ileal pouch-anal anastomosis (IPAA) in familial adenomatous polyposis (FAP) and ulcerative colitis (UC). METHODS:Thirty patients that underwent IPAA for either FAP (14 patients) or UC (16 patients) at Kyung-Hee University Hospital between January 1987 and December 1999 were studied retrospectively. Either handsewn or stapled anastomosis technique was used in IPAA. Most patients (12 patients in FAP, 16 patients in UC) had a two-stage operation with temporary diverting loop ileostomy and two patients with FAP had a one-stage operation without temporary ileostomy. RESULTS:One patient in the UC group died from sepsis after operation (n=16, 6.25%), but no patients in the FAP group died. Overall operative complications appeared in two patients (14.3%) and four patients (25%) with FAP and UC, respectively. At follow-up (mean, 47.3 months), pouchitis was developed in four patients with UC, but no patients with FAP. The mean daytime stool frequency was 4.5 stools per day in FAP patients and 5.8 stools per day in UC patients (P=0.031), but night-time stool frequency was similar between two groups (1.2 and 1.4 in FAP and UC, respectively; P>0.05). Daytime fecal incontinence was noticed in two patients (14.3%) with FAP and four patients (26.7%) with UC. Night-time fecal incontinence was noticed in three patients (21.4%) with FAP and six patients (40.0%) with UC. CONCLUSIONS:FAP patients tolerated the operation better and had less long-term disability than did UC patients. This suggested that the long-term outcome of IPAA procedure may depend on the primary disease rather than the procedure itself.

Synergism and Attenuation of Fermented Radix Astragali Powder on Cyclophosphamide / 中国药房

OBJECTIVE:To observe the synergism and attenuation of Fermented Radix Astragali Powder(FAP)on Cyc-lophosphamide(Cy),a tumor chemotherapeutics,and to explore more economical and effective assistant chemotherapeutics.METHODS:In synergism experiments,the mice tumor models(S180 and H22 solid tumor and H22 ascitic tumor)were used to observe the effects of FAP combined with Cy on tumor control rate and survival time of mice.In attenuation experiments,the effects of FAP against toxic reactions including myelosuppression,atrophy of immune organs,and lesions on renal function induced by high dose of Cy in mice were observed.RESULTS:FAP did enhanced the the antitumor effect of Cy on S180 and H22 solid tumor,lessened Cy-induced toxic reactions such as aleucocytosis,the reduction of the nucleated cells in bone marrow and the weight loss of spleen in mice,meanwhile,it showed protective effect on renal function yet without no significant influence on hepatic function.CONCLUSION:FAP has synergistic and attenuation effects on Cy.