RESUMEN
BACKGROUND: Our study aimed to investigate the association between multidrug resistance (MDR1) C1236T, C3435T and G2677T/A polymorphisms and the response to imatinib (IM) in chronic myeloid leukemia (CML). MATERIALS AND METHODS: An electronic databases in PubMed, Embase, Web of Knowledge, Scopus and Cochrane were searched using combinations of keywords relating to MDR1 polymorphisms and the response to IM in CML. Studies retrieved from database searches were screened using strict inclusion and exclusion criteria. RESULTS: In total, 37 studies were initially identified, and 17 studies, involving 4494 CML patients, were eventually included in this meta-analysis.Results of our study revealed significant association between MDR1 G2677T/A and C3435T polymorphisms and response to IM in Caucasian population under recessive model (T or A vs G; OR = 1.43,95%CI [1;06-1.93]; T vs C;OR = 1.13; 95%IC [0.79; 1.63]), dominant (T or A vs G; OR = 0.94; 95%CI [0.74-1.21]; T vs C; OR = 1.49; 95%CI [1.02-2.17]) and heterozygous models (T or A vs G; OR = 0.83; 95%CI [0.64; 1.09]; T vs C; OR = 1.52; 95%CI [1.01-2.28]); respectively. However, never significative association was found between IM response and the MDR1 C1236T polymorphism (OR = 1.25; 95%CI [0.46; 3.33]). CONCLUSION: The MDR1 G2677T/A and C3435T polymorphisms might be a risk factor for resistance to IM in Caucasian CML patients.
Asunto(s)
Mesilato de Imatinib , Leucemia Mielógena Crónica BCR-ABL Positiva , Polimorfismo de Nucleótido Simple , Subfamilia B de Transportador de Casetes de Unión a ATP/genética , Genotipo , Humanos , Mesilato de Imatinib/uso terapéutico , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Leucemia Mielógena Crónica BCR-ABL Positiva/genéticaRESUMEN
The authors report two cases of concomitant scaphoid and distal radial fractures, a rare combination of lesions in children. The first case was in a 14-year-old boy who presented a midscaphoid fracture associated with a distal forearm fracture. The second case concerned a 13-year-old boy who presented a midscaphoid fracture associated with a Salter type II distal radial fracture. Both fractures were reduced under general anaesthesia. The total period of immobilisation was 3 months, using a large arm thumb cast. Associated scaphoid fractures should be suspected with all types of distal forearm injuries in children. Reduction of the radius fracture should be done carefully to avoid possible displacement of the scaphoid fracture.
Asunto(s)
Fracturas Óseas/complicaciones , Fracturas del Radio/complicaciones , Hueso Escafoides/lesiones , Adolescente , Moldes Quirúrgicos , Fracturas Óseas/terapia , Humanos , Masculino , Manipulación Ortopédica , Fracturas del Radio/terapiaRESUMEN
The development of a lung cancer in young patients with emphysematous bullae is a classical, albeit rare, event. These patients can however be operated upon for the resection of a giant bulla causing respiratory distress. We report the case of a 41 year old male patient who was submitted to the resection of a giant right apical emphysematous bulla. The histopathological examination of the fragment revealed an undifferentiated lung carcinoma the diameter of which was less than one centimeter. This observation underlines the need for a systematic examination of the resected material and for a careful radiological follow-up of such patients.
Asunto(s)
Carcinoma/diagnóstico , Neoplasias Pulmonares/diagnóstico , Enfisema Pulmonar/diagnóstico , Adulto , Vesícula/diagnóstico , Diagnóstico Diferencial , Estudios de Seguimiento , Humanos , Inmunohistoquímica , Masculino , Neumonectomía , Tomografía Computarizada por Rayos XRESUMEN
Pesticides exposure causes usually harmful effects to the environment and human health. The present study aimed to investigate the potential toxic effects of penconazole, a triazole fungicide, on the cerebrum and cerebellum of adult rats. Penconazole was administered intraperitoneally to male Wistar rats at a dose of 67 mg kg-1 body weight every 2 days during 9 days. Results showed that penconazole induced oxidative stress in rat cerebrum and cerebellum tissues. In fact, we have found a significant increase in malondialdehyde, hydrogen peroxide, and advanced oxidation protein product levels, as well as an alteration of the antioxidant status, enzymatic (superoxide dismutase and catalase) and nonenzymatic (glutathione), the cholinergic function, and membrane-bound ATPases (Na+/K+-ATPase and Mg2+-ATPase). Penconazole also provoked histological alterations marked by pyknotic and vacuolated neurons in the cerebrum and apoptosis and edema in the cerebellum Purkinje cells' layer. Therefore, the use of this neurotoxicant fungicide must be regularly monitored in the environment.
Asunto(s)
Acetilcolina/metabolismo , Adenosina Trifosfatasas/metabolismo , Cerebelo/enzimología , Cerebro/enzimología , ATPasa Intercambiadora de Sodio-Potasio/metabolismo , Triazoles/farmacología , Adenosina Trifosfatasas/genética , Animales , Antioxidantes/metabolismo , Membrana Celular/enzimología , Fungicidas Industriales/farmacología , Regulación Enzimológica de la Expresión Génica/efectos de los fármacos , Peróxido de Hidrógeno , Peroxidación de Lípido , Masculino , Oxidación-Reducción , Estrés Oxidativo , Ratas , Ratas Wistar , ATPasa Intercambiadora de Sodio-Potasio/genéticaRESUMEN
INTRODUCTION: Actinomycosis is a chronic suppurative granulomatous disease caused by different Actinomyces species, mostly bacillus: the Actinomyces israeli. The pelvis location of this infection is rare. OBSERVATIONS: We report two cases of actinomycosis that were diagnosed after the surgical treatment of a suspected ovarian tumor and a suspected acute peritonitis. Diagnosis in both cases was based on the histopathologic findings. CONCLUSION: The incidence of pelvic actinomycosis is increasing since 1960 related to the frequent use of intra uterine device. The clinical symptomatology is not specific, simulating a neoplastic or an inflammatory process. The treatment combines operative and antibiotic therapy.
Asunto(s)
Actinomicosis/complicaciones , Enfermedad Inflamatoria Pélvica/microbiología , Actinomicosis/diagnóstico , Actinomicosis/etiología , Actinomicosis/terapia , Adulto , Antibacterianos/uso terapéutico , Femenino , Humanos , Dispositivos Intrauterinos/efectos adversos , Neoplasias Ováricas/cirugía , Ovariectomía , Enfermedad Inflamatoria Pélvica/diagnóstico , Enfermedad Inflamatoria Pélvica/terapia , Espacio Retroperitoneal , Resultado del TratamientoRESUMEN
OBJECTIVE: The aim of this work was to describe the epidemiological, pathological and clinical features of granulosa cell tumors and to study the different prognostic factors in order to determine an appropriate therapeutic attitude. PATIENTS AND METHODS: We proceeded with a retrospective study of 16 cases of granulosa cell tumors of the ovary diagnosed over a period of 10 years (1994-2003). These cases included one case of juvenile type and 15 adult types. RESULTS: Mean patient age was 46 years for the adult type (range 20-70 years) and 35 years for the juvenile type; 19% of the patients were nulliparous, 31% were menopausals. The predominant symptom was abdomino-pelvic pain with frequent hormonal manifestations. Mean tumor size was 10.5 cm with a solido-cystic aspect in 50% of cases. The treatment was surgical in all cases. Among the 16 patients, 14 (87.5%) were diagnosed at stage I and one (6.2%) at stage II. The juvenile tumor was at stage IV at time of diagnosis and only adjuvant chemotherapy was given. No relapse nor recurrence were noted for the adult type after a mean follow up of 2 years 2 months. For the juvenile form, locoregional recurrence with liver metastasis developed after 9 months. CONCLUSION: Granulosa cell tumor of the ovary is an uncommon neoplasm. The adult form progresses slowly and often is diagnosed in an early stage of disease. Surgery is indicated. The juvenile forms are more exceptional and more aggressive. A prolonged post therapeutic follow-up is necessary because of the risk of recurrences, late and exceptional for the adult form but frequent and early for the juvenile form.
Asunto(s)
Tumor de Células de la Granulosa/patología , Tumor de Células de la Granulosa/cirugía , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , Adulto , Factores de Edad , Anciano , Femenino , Humanos , Persona de Mediana Edad , Recurrencia Local de Neoplasia/prevención & control , Estadificación de Neoplasias , Paridad , Posmenopausia , Embarazo , Pronóstico , Estudios Retrospectivos , Factores de Tiempo , Resultado del TratamientoRESUMEN
Malignant transformation of struma ovarii is exceptional (less than 1%). The histolological diagnosis of malignancy is difficult especially in the well differentiated forms. Immunohistochemistry is highly contributive in the anaplastic forms. The prognosis is relatively favorable except for the metastatic and undifferentiated forms. We report a case of malignant struma ovarii with metastasis observed in a 65-year-old woman who died rapidly from her disease. In light of this observation, we discuss the diagnositic, management and outcome features of these particular tumors.
Asunto(s)
Neoplasias Ováricas/diagnóstico , Estruma Ovárico/diagnóstico , Anciano , Antineoplásicos/uso terapéutico , Resultado Fatal , Femenino , Humanos , Inmunohistoquímica , Queratina-7 , Queratinas/análisis , Metástasis de la Neoplasia , Neoplasias Ováricas/patología , Neoplasias Ováricas/terapia , Radioterapia , Estruma Ovárico/patología , Estruma Ovárico/terapia , Tiroglobulina/análisisRESUMEN
BACKGROUND: Chronic granulomatous disease is a rare inherited primary immune deficiency disease characterized by recurrent infection and an increased susceptibility to autoimmunity disorders. We report on the case of a girl with autoimmune hepatitis in chronic granulomatous disease to describe the clinical and biological features and treatment implications for patients with chronic granulomatous disease associated with autoimmune disorders. CASE REPORT: An 18-month-old girl was referred to our department for investigation of hepatomegaly. She was the third child of non-consanguineous parents. Her two elder sisters had died from infectious diseases at an early age. She had elevated liver transaminase levels with a normal gamma globulin concentration. Negative results were found for all autoimmune markers (antinuclear antibody, anti-smooth muscle, anti-liver-kidney microsomal, anti-liver cytosol and anti-soluble liver antigen). Her liver biopsy showed features of interface hepatitis with portal fibrosis. The diagnosis of seronegative autoimmune hepatitis was established. Treatment with corticosteroids and azathioprine led to clinical improvement with normalization of transaminases. Six months after initial presentation, at the age of 2 years, she was readmitted for fever. Staphylococcus aureus bacteremia was identified with multiple foci of infection (skin infection, arthritis of the right elbow, pneumonia, buttock abscess). The immunological workup revealed chronic granulomatous disease. The course was marked by a fatal outcome despite appropriate antibiotics and intensive care. CONCLUSION: Early diagnosis of the association between chronic granulomatous disease and autoimmune disorders allows for appropriate treatments, improves the quality of life for affected patients, and reduces the risk of mortality.
Asunto(s)
Enfermedad Granulomatosa Crónica/diagnóstico , Hepatitis Autoinmune/diagnóstico , Antibacterianos/uso terapéutico , Bacteriemia/diagnóstico , Preescolar , Cuidados Críticos , Resultado Fatal , Femenino , Estudios de Seguimiento , Enfermedad Granulomatosa Crónica/genética , Enfermedad Granulomatosa Crónica/terapia , Hepatitis Autoinmune/genética , Hepatitis Autoinmune/terapia , Humanos , Lactante , Infecciones Estafilocócicas/diagnósticoRESUMEN
PURPOSE: The aim of the present study was to discuss the epidemiology, clinical and pathologic features, treatment, and prognosis of primary neuroendocrine carcinomas of the breast. PATIENTS AND METHODS: We report 21 cases diagnosed over a period of 12 years (1995-2011) at the university hospital of Sfax. A review of the clinical data with pathology and immunohistochemistry study was carried out for all the cases. RESULTS: The average age was 62 years (34-86 years). At the time of the diagnosis, tumours were classified T1 and T2 (16 cases), N1 (11 cases) and M1 in two cases. The histological examination has shown 13 cases of solid neuroendocrine carcinoma, six cases of large cell type and two cases of atypical carcinoid. Grade I and II SBR were found in 18 cases. Eighty-one percent of the tumours were reactive for synaptophysin; all tumours were positive for chromogranin. Thirteen (61.9%) tumours were estrogen receptor-positive and 12 (57.5%) progesterone receptor-positive. Nineteen (90.5%) tumours were negative for HER2/neu. Overall five-year survival was 72.7%. All patients had surgical treatment with modified radical mastectomy in 13 cases. Adjuvant treatment was indicated according to histopronostic elements. CONCLUSION: For primary neuroendocrine carcinoma of the breast, multivariate analysis identified three predictive factors for mortality: disease stage, histological grade and lymph node involvement.
Asunto(s)
Neoplasias de la Mama/mortalidad , Neoplasias de la Mama/terapia , Carcinoma Neuroendocrino/mortalidad , Carcinoma Neuroendocrino/terapia , Adulto , Anciano , Anciano de 80 o más Años , Anticuerpos Monoclonales Humanizados/uso terapéutico , Antineoplásicos Hormonales/uso terapéutico , Inhibidores de la Aromatasa/uso terapéutico , Biomarcadores de Tumor/metabolismo , Neoplasias Óseas/secundario , Neoplasias Óseas/terapia , Neoplasias de la Mama/metabolismo , Neoplasias de la Mama/patología , Carcinoma Neuroendocrino/metabolismo , Carcinoma Neuroendocrino/patología , Quimioterapia Adyuvante/estadística & datos numéricos , Cromogranina A/metabolismo , Supervivencia sin Enfermedad , Femenino , Hospitales Universitarios , Humanos , Neoplasias Pulmonares/secundario , Neoplasias Pulmonares/terapia , Mastectomía/estadística & datos numéricos , Mastectomía Segmentaria/estadística & datos numéricos , Persona de Mediana Edad , Radioterapia Adyuvante/estadística & datos numéricos , Receptor ErbB-2/metabolismo , Receptores de Estradiol/metabolismo , Receptores de Progesterona/metabolismo , Estudios Retrospectivos , Tamoxifeno/uso terapéutico , Trastuzumab , Túnez/epidemiologíaRESUMEN
Mixed stromal and smooth muscle uterine tumours, defined as those containing at least 30% of each component as seen by routine light microscopy, are rare. This report describes the morphological features of two such tumours diagnosed in 44-year-old and 50-year-old females complaining from recurrent uterine bleeding that was unresponsive to medical treatment. Morphological and immunohistochemical evaluations were performed, and a final diagnosis of mixed endometrial stromal nodule and smooth muscle tumour of the uterus was rendered in both cases.
Asunto(s)
Neoplasias Endometriales/patología , Tumor Mixto Maligno/patología , Tumor de Músculo Liso/patología , Neoplasias Uterinas/patología , Útero/patología , Adulto , Diagnóstico Diferencial , Neoplasias Endometriales/complicaciones , Neoplasias Endometriales/diagnóstico , Femenino , Humanos , Persona de Mediana Edad , Tumor Mixto Maligno/diagnóstico , Tumor de Músculo Liso/complicaciones , Tumor de Músculo Liso/diagnóstico , Neoplasias Uterinas/diagnósticoRESUMEN
BACKGROUND: Uterine tumours resembling ovarian sex-cord tumours (UTROSCT) are very rare, benign uterine tumours, composed solely of sex cord elements. These tumours have a polyphenotypic immunophentype that favours a derivation from uterine mesenchymal stem cells. CASE REPORT: A 43-year-old female presented with recurrent vaginal bleeding. On hysteroscopy, she had multiple endometrial and cervical polyps that were removed endoscopically. Histologically, the specimen contained epithelioid cells arranged in tubules, trabeculae and anastomosing cords, without significant cellular atypia or mitotic activity. Immunohistochemical studies were performed. The tumour was found to be diffusely positive for vimentin, calretinin and desmin, focally positive for cytokeratin, CD99 and inhibin and negative for chromogranin and CD10. A subsequent total hysterectomy was performed and revealed neoplastic infiltration of the myometrium. CONCLUSION: A polyphenotypic immunophenotype is a characteristic feature of UTROSCT, and may be helpful in diagnosis and in exclusion of other lesions. Familiarity with this tumour by gynaecologists and pathologists is essential to avoid misdiagnosis:correct diagnosis of this neoplasm is important in patient management.
Asunto(s)
Neoplasias Endometriales/patología , Neoplasias Ováricas/patología , Pólipos/patología , Tumores de los Cordones Sexuales y Estroma de las Gónadas/patología , Neoplasias del Cuello Uterino/patología , Adulto , Biomarcadores de Tumor/análisis , Biopsia , Neoplasias Endometriales/química , Neoplasias Endometriales/cirugía , Femenino , Humanos , Histeroscopía , Inmunohistoquímica , Pólipos/química , Pólipos/cirugía , Valor Predictivo de las Pruebas , Neoplasias del Cuello Uterino/química , Neoplasias del Cuello Uterino/cirugíaRESUMEN
Distinguishing intestinal tuberculosis from Crohn disease is difficult and can result in misdiagnosis, especially when active pulmonary infection is absent. A 13-year-old girl was admitted to our hospital with a 2-month history of watery diarrhea, abdominal pain, and 12-kg weight loss. Based on clinical, radiological, endoscopic, and histological findings, she was initially misdiagnosed as having Crohn disease and treated with glucocorticosteroids, with a poor response after 4 weeks. Intestinal tuberculosis was then suspected. Improvement was observed during the 1st week of antituberculous treatment. The differentiation of intestinal tuberculosis from Crohn disease may be very difficult in some patients. A positive response to antituberculous treatment associated with clinical, endoscopic, and histological features argue in favor of the diagnosis of intestinal tuberculosis.
Asunto(s)
Enfermedades del Colon/diagnóstico , Enfermedades del Íleon/diagnóstico , Tuberculosis Gastrointestinal/diagnóstico , Dolor Abdominal/etiología , Adolescente , Enfermedad de Crohn/diagnóstico , Errores Diagnósticos , Diarrea/etiología , Femenino , Humanos , Pérdida de PesoRESUMEN
INTRODUCTION: Myofibroblastoma of the breast (MFB) is an unusual benign tumour that belongs to the family of benign spindle cell tumours of the mammary stroma. The detection of smooth muscle cells in MFB is explained by its histogenesis from CD34+ fibroblasts of mammary stroma capable of multidirectional mesenchymal differentiation, including smooth muscle. AIMS: The purpose of this case is to highlight characteristics of this rare neoplasm. Immunohistochemical features, in MFB with predominant leiomyomatous differentiation, are provided to offer a practical approach to a correct diagnosis. CASE REPORT: We report a right MFB in a 60-year-old male. The tumour was unusual due to its morphological features, with predominant leiomyomatous differentiation. Immunohistochemical findings, based on the negativity of h-caldesmon, helped in reaching a diagnosis. CONCLUSION: The detection of leiomyomatous rather than myofibrolastic features in MFB may reflect only the predominant cell types of examined area, and this is not necessarily representative of the remaining tumour which may have a different basic cellular composition. Immunohistochemical expression of h-caldesmon is a reliable marker in distinguishing smooth muscle versus myofibrolastic cellular differentiation in spindle cells lesions of the breast.
Asunto(s)
Neoplasias de la Mama Masculina/patología , Mama/patología , Leiomioma/patología , Neoplasias de Tejido Muscular/patología , Humanos , Masculino , Persona de Mediana EdadRESUMEN
Primary mucinous thyroid carcinoma (PMTC) are extremely rare lesions that are histologically indistinguishable from mucinous carcinoma of other sites. We describe the clinicopathological, histological and immunohistochemical features of this rare tumour with a review of the literature. We describe a case of thyroid tumour, in 56-year-old Tunisian man, composed of small nests and sheets of malignant epithelial cells associated with extensive extracellular mucin that entrapped the follicular parenchyma of thyroid. Thyroglobulin and thyroid-specific-transcription factor 1 (TTFl) were focally positive. Follow-up did not reveal another neoplasm at other sites. Based on these features, we classified this tumour as PMTC. Mucinous carcinoma of the thyroid gland can be a cause of pitfall in differential diagnosis. For correct diagnosis, complete clinical history, restricted histological criteria and immunohistochemical panel are necessary.
Asunto(s)
Adenocarcinoma Mucinoso/patología , Glándula Tiroides/patología , Neoplasias de la Tiroides/patología , Humanos , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: Overlap syndrome of autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC) is considered when the patient presents with the diagnostic criteria of both diseases at some stage of the medical history, either simultaneously or consecutively. AIM: To report on a new case of overlap syndrome and describe the clinical presentation, progression, radiological studies, histological characteristics, and therapeutic options of this rare association. CASE REPORT: A 10-year-old boy presented with jaundice and hepatosplenomegaly. Levels of plasma aminotransferases, gamma-glutamyl transferase, serum alkaline phosphatase and gammaglobulins were elevated. Anti-liver cytosol and perinuclear antineutrophilic cytoplasmic antibodies were positive. Liver biopsy showed features of interface hepatitis with ductopenia. Magnetic resonance cholangiography revealed bile duct stenosis and dilations. Serological findings associated with radiological and histological features confirmed the diagnosis of overlap syndrome of AIH with PSC. Treatment with prednisone, azathioprine, and ursodeoxycholic acid led to a good response. CONCLUSION: The possibility of AIH-PSC overlap syndrome should be considered in all children with AIH and, with clinical, biochemical, or histological signs of PSC, complementary investigations should be done to confirm the diagnosis so as to urgently initiate appropriate treatment with immunosuppressive medication and ursodeoxycholic acid.
Asunto(s)
Colangitis Esclerosante/diagnóstico , Hepatitis Autoinmune/diagnóstico , Fosfatasa Alcalina/sangre , Azatioprina/uso terapéutico , Biomarcadores/sangre , Niño , Colagogos y Coleréticos/uso terapéutico , Colangitis Esclerosante/sangre , Colangitis Esclerosante/tratamiento farmacológico , Quimioterapia Combinada , Glucocorticoides/uso terapéutico , Hepatitis Autoinmune/sangre , Hepatitis Autoinmune/clasificación , Hepatitis Autoinmune/tratamiento farmacológico , Hepatomegalia/etiología , Humanos , Inmunosupresores/uso terapéutico , Ictericia/etiología , Imagen por Resonancia Magnética , Masculino , Prednisona/uso terapéutico , Esplenomegalia/etiología , Transaminasas/sangre , Resultado del Tratamiento , Ácido Ursodesoxicólico/uso terapéutico , gammaglobulinas/metabolismo , gamma-Glutamiltransferasa/sangreRESUMEN
Metastasis to the central nervous system, either through a hematogenous route or through the cerebrospinal fluid, is extremely rare in nasopharynx cancer. We aim to expose clinical aspects, therapeutic features and prognosis of nasopharyngeal carcinoma with brain metastases. We retrospectively reviewed the medical history of about 420 patients with nasopharyngeal carcinoma treated during 17 years at the university hospital of Sfax (Tunisia). Among them, three patients had brain metastasis. We excluded patients with direct extension to the brain. Tumours of the nasopharynx were locally advanced. The first patient had brain metastases at the initial diagnosis. The two other patients had brain metastases at 10 and 16 months during the follow-up. Ocular signs were the symptoms. Lesions were unique in two patients. Synchronous bone metastases were recorded in the three cases. All patients had whole brain radiation therapy and palliative chemotherapy. All patients had a progression of the disease and died. Brain metastases in nasopharynx cancer represent a rare event. Prognosis is poor, depending on age, surgical excision and synchronous metastases. Survival does not exceed 6 months.