Cancer sincronico de endometrio y trompa / Synchronous primary endometrial and tube fallopian cancers

Los tumores sincrónicos del tracto genital femenino son un entidad infrecuente que plantea un reto en el diagnóstico diferencial con la enfermedad metastásica. La mayoría de ellos son cánceres de endometrio y ovario, siendo los tumores sincrónicos de endometrio (CE) y trompa (CT) una asociación excepcional. Presentamos el caso de una paciente de 54 años con un diagnóstico preoperatorio de CE en la en la pieza quirúrgica se desveló la existencia de un tumor sincrónico de trompa izquierda. A propósito de este caso se realiza una revisión del tema haciendo hincapié en cómo llegar a un correcto diagnóstico de los tumores independientes descartando la extensión tumoral y la enfermedad metastásica.

Synchronous primary cancers of gynecological tract are uncommon and a challenge in the differential diagnosis with metastatic disease. Most of them are endometrial and ovarian cancers. Synchronous primary endometrial (EC) and tube fallopian cancers (TC) are a very rare association. We report the case of a patient of 54 years with EC preoperative diagnosis with synchronous left TC postoperative diagnosis. We review the topic emphasizing how to reach a correct diagnosis of tumors independent refusing the tumor invasion and metastatic disease.

[Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years]. / Enfermedades neuromusculares hereditarias en pediatría. Nuestra experiencia de 14 años.

INTRODUCTION: Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information. PATIENTS AND METHODS: We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004. RESULTS: Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included: 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreich's ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%): nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreich's ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdle's disease and one case of Kearns-Sayre syndrome. CONCLUSIONS: Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached.

Adenolipoma of the skin.

Adenolipoma of the skin is an unusual variant of lipoma recently described by Hitchcock et al. and characterized by the presence of normal eccrine sweat glands within a lipoma. We report a case and review the literature. A 45-year-old woman presented with a slow-growing, painless nodule on the thigh, clinically considered to be lipoma. Microscopically it comprised an adipose-tissue proliferation with a single eccrine secretory coil and associated duct in the periphery and in the center of the nodule. This benign lesion has been termed adenolipoma because of the presence of adipose tissue and eccrine glands. It probably represents only a histological curiosity in which the eccrine glands are entrapped by the adipose proliferation. Adenolipoma of the skin is a distinct lesion that can occur in the dermis or subcutaneous tissue.

Pseudotumoral encapsulated fat necrosis with diffuse pseudomembranous degeneration.

An extraordinary case of encapsulated fat necrosis characterized by its large size, diffuse formation of pseudomembranes, and tendency to recur after excision is reported. A 67-year-old Caucasian woman suffering from morbid obesity was admitted for diagnosis and surgical treatment of a soft tissue mass showing a longest diameter of 14 cm and lying adjacently to the scar from previous appendicectomy. Histopathologic features were consistent with a nodular-cystic encapsulated fat necrosis with diffuse pseudomembranous transformation. Eight months after surgery, a new larger mass (longest diameter of 18 cm) sharing identical histopathologic features appeared in the same location. Encapsulated fat necrosis is a well-defined entity even though several names have been proposed for this condition, including mobile encapsulated lipoma, encapsulated necrosis, or nodular-cystic fat necrosis. Its pathogenesis seems to be related to ischemic changes secondary to previous trauma. It may occasionally show degenerative changes, including dystrophic calcifications and presence of pseudomembranes. To our knowledge, these are the first reported cases of encapsulated fat necrosis presenting as lesions of such size and showing diffuse formation of pseudomembranes; these particular features made diagnosis difficult and led to consideration of a wide range of potential diagnostic possibilities. This case expands the clinico-pathologic spectrum of membranocystic fat necrosis, including the potential ability of this subcutaneous fatty tissue abnormality to recur after surgical excision. Felipo F, Vaquero M, del Agua C. Pseudotumoral encapsulated fat necrosis with diffuse pseudomembranous degeneration.

Significance of protein p53 overexpression in the clinical course of high-risk superficial bladder cancer.

OBJECTIVES: This is a retrospective study in which the long-term biological behavior of 67 "high-risk" superficial bladder tumors and the prognostic relevance (prediction of disease recurrence and progression) of the determination of the p53 phenotype in these cases were studied. MATERIAL AND METHODS: 67 tumors with a "high-risk" of progression were selected from the 1,103 transurethral resections for bladder cancer carried out in 640 patients in this center between 1987 and 1992. These included 39 T1G3, 14 Tis (isolated or associated with Ta-T1, non-G3 tumors), and 14 Ta-T1, non-G3 tumors with submucosal lymphatic affection (L+). The median follow-up of these cases was 69.7 months. An immunohistochemical technique with monoclonal antibodies (DO-7) was used to detect the p53 phenotype in paraffin-fixed material. RESULTS: Tumor recurrence occurred in 31 patients (46.3%) and local or distant progression in 14 (20.9%). Radical cystectomy was carried out in 16 (23.9%) cases. p53 overexpression of > or =20% ("p53+") was detected in 40 tumors (59.7%). The rate of recurrence and progression, the disease and progression-free intervals, cancer-specific survival, disease-free survival and progression-free survival were similar in the 3 tumor groups (in all cases, p > 0.05). There were no significant differences in the overexpression of protein p53, using the standard cutoff point of 20% stained nuclei, on comparing the same variables in the whole group of 67 patients (in all cases, p > 0.05). CONCLUSION: The detection of protein p53 was not found to be of use in the retrospective prediction of disease progression or survival in "high-risk" superficial bladder cancer.

[Sjögren syndrome in ORL. Diagnostic considerations]. / Síndrome de Sjögren en O.R.L. Consideraciones diagnósticas.

A presentation the history of a 51-year-old woman with xerostomia and keratoconjunctivitis sicca (KCS), developed in 10 months, investigations revealed the presence in serum of antibodies against cytoplasmic antigens SS-A (Ac anti-Ro/SS-A), antinuclear antibodies (ANAs) and rheumatoid factor (RF). The Rose Bengal test was positive and in the salivary gammagraphy, made with pertecnate 99 mTc, it was observed a decrease of the captation and excretion of the designer for salivary glands. The histopathology and immunohistochemical study of minor salivary glands showed the presence of a focal lymphocitic sialadenitis (fsa) and a predominance of lymphocites CD4+. It was diagnosed as primary Sjögren's syndrome (PSS) and the patient treated with salivary substitutes, artificial tears and corticoids. We analyse the current diagnostic criteria of the group of study of the European Community for the Sjögren's syndrome (SS) and emphasize the importance of histologic and immunochemical studies, that together with the rest of complementary tests will led us to distinguish not only the different forms of the presentation of the illness but also those of all patients with pathologies which are nowadays very prevalent in our environment, such as the hepatitis C (HCV) an the human immune deficiency (HIV) virus infections.

[Respiratory distress syndrome due to hyperleukocytic leukemias]. / Síndrome de distrés respiratorio por leucemias hiperleucocíticas.

Hyperleukocytic leukemias are a small proportion of leukemias that have white blood cell count > 100 x 10(9)/l, most of them are leukemic blast cells. These leukemias have a grave prognosis because they can develop a leukostasis syndrome which describes: the acute onset of pulmonary failure and, often, neurologic deficits and disseminated intravascular coagulation (DIC). The leukostasis is produced by the mechanical obstruction of vascular bed by blast cells, which can be induced by the spontaneous tumor lysis or as a side effect of cytotoxic drugs. So, hyperleukocytic leukemias require early and vigorous measures to decrease the white blood cell count, using leukapheresis and/or chemotherapy, before pulmonary failure exists. Then, it is possible to reverse the lesions. We report two cases of acute myeloblastic leukemia with a white blood count > 100 x 10(9)/l, that developed a respiratory distress syndrome and died. The postmortem examination has been done in one of the cases.

The AgNOR quantity as prognostic parameter in choroidal melanomas: a standardised analysis.

In order to assess the prognostic significance of silver-stained nucleolar organizer region (AgNOR) proteins, a standardised analysis has been performed on 34 ocular globes with choroidal melanomas. On formalin-fixed paraffin-embedded sections, the visualisation and quantification of AgNORs were achieved according to the guidelines of the Committee on AgNOR Quantification (1995); statistical analysis was performed on the mean AgNOR area values (NORA). We have encountered significantly higher NORA values in nonspindle shaped elements, in tumours of larger dimensions as well as in those with worse clinical course; no correlations were achieved when the AgNOR quantity was compared with age, sex and amount of pigment. The comparison of Kaplan-Meier survival curves revealed that patients affected by melanomas with higher NORA values (>3.327 microm2), non-spindle cell histotype and increased size of tumour had a worse prognosis; finally, by Cox multivariate analysis, the AgNOR quantity appeared the only independent prognostic variable to predict the final outcome of patients.

[Polyneuropathy caused by vitamin B12 deficiency secondary to chronic atrophic gastritis and giardiasis]. / Polineuropatía por déficit de vitamina B12 secundaria a gastritis crónica atrófica y giardiasis.

INTRODUCTION: In chronic atrophic gastritis atrophy of the stomach glands leads to intrinsic factor deficit, with consequent failure to absorb vitamin B12 and gastric achylia, which predisposes to Giardia infection which in itself leads to depletion of vitamin B12. We describe the case of a patient with peripheral and central nervous system pathology due to lack of vitamin B12 secondary to the combined effect of these two disorders. CLINICAL CASE: A 54 year old woman consulted us for paraesthesia and weakness of the legs which had been progressive for the previous two years. She presented with tactile hypoaesthesia, hypoparaesthesia, distal hyperreflexia and dysymmetry of the legs, ataxic-spastic gait and a positive Romberg sign. The investigations carried out showed the serum vitamin B12 level to be 3 pg/ml (N: 180-900), hemoglobin 13 g/dl and MCV 111 fl with MCHC 348/dl; neurophysiological studies: compatible with demyelinating motor polyneuropathy. Schilling test: deficit of absorption of vitamin B12 which was corrected on administration of intrinsic factor; gastroscopy; atrophic gastritis which confirmed the morbid anatomy findings. There was also flora containing Helicobacter and massive Giardia infection. Replacement and antibiotic therapy was followed by complete remission of the clinical picture. CONCLUSION: We emphasize the excellent clinical response to treatment in spite of the time elapsed since onset of symptoms.