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Biomedical subjects

S Madero

Publications and source records attributed to S Madero.

At least 19 recordsLinked to original sources

Small cell carcinoma of the kidney: a case report and review of the literature.

Small cell carcinoma is a malignant tumor composed of small cells with a diffuse growth pattern. It has immunohistochemical and ultrastructural features of both neuroendocrine and epithelial neoplasms. These tumors constitute 10% to 20% of malignant tumors in the lung, which is their most frequent site. They have been described in other extrapulmonary sites, where they are defined using the same criteria as used in the lung. These tumors are rarely found in the genitourinary tract. Fewer than 30 cases have been reported in the kidney. The differential diagnosis mainly includes other small round cell tumors and metastatic small cell lung carcinoma. We present and discuss a primary small cell carcinoma of the kidney (to our knowledge the 9th to be reported in the literature), which we studied with light microscopy, immunohistochemistry, electron microscopy, and, for the first time, flow cytometry.

Aged↗

Surgical findings in idiopathic trigeminal neuropathy mimicking a trigeminal neurinoma.

Idiopathic trigeminal neuropathy is a benign disorder where the main clinical feature is facial numbness limited to the territory of one or more divisions of the trigeminal nerve, persisting for a few weeks to several years and in which no underlying disease can be identified. The case of a 37-year-old man with a brief history of sensory and motor trigeminal symptoms who showed magnetic resonance imaging (MRI) findings consistent with a small trigeminal neurinoma is reported. The patient was operated on but no tumour could be found during surgery and a biopsy was taken from the portio major. Pathological diagnosis was chronic non granulomatous inflammatory reaction with areas of coagulation necrosis. Control MRI showed complete resolution of the trigeminal abnormalities. It is concluded that in patients with MRI findings suggestive of a small trigeminal schwannoma, benign idiopathic trigeminal neuropathy should also be considered in the differential diagnosis. A conservative approach with sequential MRI studies may avoid an unnecessary surgical exploration.

Adult↗

B cell non-Hodgkin's lymphoma in a girl with the DiGeorge anomaly.

The DiGeorge anomaly (DGA) is occasionally associated with cellular immunodeficiency. We report a female infant diagnosed with complete DGA, who developed fatal, high grade, non-Hodgkin's lymphoma that expressed Epstein-Barr virus (EBV). Non-Hodgkin's lymphoma should be considered in children with DGA.

DiGeorge Syndrome↗

[Heterotopic brain tissue in the pharynx].

The presence of heterotopic brain tissue in the head and neck region is exceptional. Most reported cases have been observed in the nasal region and are called nasal gliomas. The case of a 10-month-old boy with heterotopic brain tissue on the soft palate and nasopharynx is reported. Surgical treatment was successful and no complications or recurrences have been observed in 7 years of follow-up. The main pathogenic theories and nomenclature are analyzed.

Choristoma↗

Rapidly deteriorating polyneuropathy associated with osteosclerotic myeloma responsive to intravenous immunoglobulin and radiotherapy.

Osteosclerotic myeloma is a plasma-cell dyscrasia characterized by osteosclerotic bone lesions, which may be associated with progressive demyelinating polyneuropathy. We describe a 49-year-old patient with rapidly deteriorating polyneuropathy associated with osteosclerotic myeloma, who responded favorably to a combination of intravenous immunoglobulin and radiotherapy.

Combined Modality Therapy↗

Primary progressive aphasia with glial cytoplasmic inclusions.

We report a 80-year-old woman who suffered from primary progressive aphasia for 3 years. Cranial CT and MRI studies showed moderate cerebral atrophy, more marked in the left frontal and temporal lobes, and SPECT brain scans revealed marked hypometabolism in the left frontal and temporal lobes. Neuropathologic examination of a temporal lobe biopsy demonstrated Gallyas-positive intracytoplasmic inclusions looking like fibrillary tangles and of Gallyas-positive cell processes, probably from glial cells. Glial intracytoplasmic inclusions were immunolabelled with antibodies to ubiquitin and with phosphorylion-dependent antitau antibodies, indicating the presence of hyperphosphorylated tau in the inclusions. There was only mild pathology of cortical neurons consisting in rare perikarya diffusely stained with antitau antibodies. There were no senile plaques, neurofibrillary tangles, 'achromatic' neurons, ballooned cells, Pick or Lewy bodies, nor microvacuoles or spongiform changes of the neuropil. The glial intracytoplasmic inclusions found in this case were similar to those found in multiple system atrophy, and differ from the cortical changes hitherto reported in primary progressive aphasia.

Aged↗

Histochemical study of the vastus lateralis muscle fibre types of athletes.

In 16 women and 66 men, aged 14 to 36 years, 10 sedentary and 72 athletes, the histochemical characteristics of the vastus muscle fibres have been studied. Muscle biopsies were processed histochemically using the myofibrillar ATPase method, and were classified according to gender, sport activity and type of exercise. The average diameter of muscle fibres was larger in men than in women and in trained individuals than in sedentary ones. The largest percentage of Type I fibres was found in long distance runners; the smallest in those performing karate and triple jump. The largest percentage of Type IIA fibres was found in swimmers and the smallest in footballers. The largest percentages of Type IIB and IIC fibres were found in footballers. The largest average diameters of Type I and Type II fibres were found in swimmers and in long distance athletes respectively. Type I and Type II fibres were dominant in the aerobic group and the anaerobic one, respectively; the percentage of Type IIC fibres was smaller in the anaerobic group.

Adenosine Triphosphatases↗

[Lhermitte-Duclos disease in a ten-year-old child: clinical follow-up and neuroimaging data from birth].

INTRODUCTION: Lhermitte-Duclos disease is a rare lesion characterized by enlarged cerebellar folia containing abnormal ganglion cells. It typically affects young adults, and reports in the pediatric age are exceptional. CLINICAL CASE: This case report describes a child with slowly progressive macrocephaly, which was already present at birth, delayed motor development, and clumsiness. At 7 years of age a mild ataxia appeared, which remained stationary until 10 years of age when he developed signs of intracranial pressure (headache and papilloedema). A CT scan at 2 years of age showed an enlarged posterior fossa with asymmetrical cerebellum; another study at 7 years of age disclosed mild ventricular dilatation. IRM at 10 years of age showed aqueductal obliteration by an enlarged cerebellum. The cerebellar lesion consisted of abnormally thickened folia with abnormal hyperintensity of the central cerebellum on the T2-weighted images. The lesion did not enhance with gadolinium. The histological findings were typical of Lhermitte-Duclos disease. CONCLUSIONS: In our patient the lesion behaved like a slowly growing mass, but both neuroimaging and pathological studies were suggestive of a hamartomatous rather than a true neoplastic disorder. Furthermore, there was clinical evidence that the disorder was already present at birth. All the evidences in our case support the concept that this growing lesion represents a congenital abnormality.

Ataxia↗

Suprasellar papillary squamous craniopharyngioma. A case report.

Papillary squamous craniopharyngioma is an unusual variant of craniopharyngioma that presents almost exclusively in adults. We report a case of a 51-year-old man, who presented with visual and mental symptoms. A CT scan showed a suprasellar and intraventricular, uncalcified mass. After craniotomy a partly solid and cystic mass was resected. Light microscopy examination of the solid part shows a well-differentiated papillary squamous epithelium arranged in anastomosing cords and papillae. Peripheral palisading of cells, "stellate reticulum" and keratoid nodules were not present. No cholesterol clefts or calcifications are seen. The differential diagnosis of this tumor is discussed.

Craniopharyngioma↗

Brain oedema in patients with intracranial meningioma. Correlation between clinical, radiological, and histological factors and the presence and intensity of oedema.

The authors analysed the correlation between different clinical, radiological, and pathological variables and the presence and intensity of brain oedema associated to intracranial meningioma in 400 consecutive patients studied by computerized tomography (CT). The following factors did not show significant correlation with brain oedema development: the age and sex of the patient, the occurrence of focal deficits, the presence of skull changes (endostosis, exostosis, osteolysis), the occurrence of tumour calcification, the density of the tumour on plain CT scan, the presence of a cystic component, the pathological subtype of meningioma (both conventional and non-conventional), and the presence of histological features of tumour aggressiveness, such as an increased vascularization, high cellularity, high mitotic index, pleomorphism, necrosis, and brain infiltration. Factors showing a statistically significant correlation with the presence and intensity of brain oedema at the bivariate analysis were: the presence of symptoms (p < 0.001), the duration of the clinical history (p < 0.05), the location and size of the tumour (p < 0.001), the type (heterogeneous vs homogeneous), and intensity of tumour contrast enhancement (p < 0.001), the presence of irregular tumour margins (p < 0.001), and the existence of focal low density intratumoural areas (p < 0.001). The multivariate analysis using only clinical parameters showed that the group of variables with the highest power for predicting the presence of brain oedema (concordance level of 76.8%) included: the presence of symptoms, the occurrence of seizures (focal or generalized), the presence of an intracranial hypertension syndrome, and the age of the patient. The multivariate analysis using only anatomico-radiological parameters showed that the model which included the size of the tumour, the intensity of contrast enhancement, the tumour margins, and meningioma location, predicted the presence of brain oedema in 80.8% of the cases. Though the results of the present study do not definitively support any of the major physiopathological theories proposed to explain brain oedema formation in patients with intracranial meningioma, some findings could favour the so-called hydrodynamic theory.

Adolescent↗

[Vertigo as an atypical symptom of intraspinal cord tumor].

Vertigo is an unpleasant sensation of movement of the subject or of his surroundings. There are many causes of vertigo. Traditionally these are divided into 'central' and 'peripheral'. It is unusual to find it as a symptom of myelopathy. We describe the case of a 67 year-old woman with no significant previous clinical history who complained of the sudden onset of vertigo a few hours previously, which worsened on turning her neck towards the left. On examination, the vertigo recurred on turning her neck to the left after a latent period of a few seconds together with the appearance of ipsilateral conjugated nystagmus, which gradually disappeared. On neurological examination, there was amyotrophy of both arms with weakness, considerably reduced reflexes, except for clonus of the left wrist. There was slight paraparesia with bilateral cutaneoplantar flexion and a level of sensitivity at C2-C3. The sensitivity disorder was more marked in the arms with a bilateral distribution approximately at C5-C7 affecting predominantly thermoanalgesia. Cervical MRI showed a mass consistent with ependymoma. This was removed surgically 2 weeks after admission. The findings of the intraoperative biopsy confirmed the radiological diagnosis. The vertigo improved one week after admission, although the patient died of pneumonia one month after operation. Despite the vertigo was an atypical symptom, it was the clue that led to the diagnosis. Hypotheses about the cause of vertigo are discussed.

Aged↗

Meningioangiomatosis: advanced imaging and pathological study of two cases.

Meningioangiomatosis (MA) is a rare benign intracranial tumour of uncertain pathogenesis, with only 33 cases reported in the literature. Imaging features have been described in 21 cases, only 3 with contrast-enhanced MRI. We present two cases of MA with MRI and/or CT findings and gross, ultrastructural, and immunohistochemical characteristics. MRI is particularly helpful for establishing the origin of the lesion and its anatomical location, while CT shows calcification, if present. The pathological characteristics establish the diagnosis and underline the differences from other entities such as malignant meningioma, one of the most important differential diagnostic considerations.

Angiomatosis↗

[Diagnosis of Alzheimer's disease. Evaluation of senile plaques of the diffuse type].

The different types of plaques throughout the thickness of the pole of the temporal lobule of brains from autopsies of a patient with Alzheimer's disease and two elderly patients with normal cognitive function were quantified. Thioflavin-S techniques and cholinesterase marking indicating amyloid aggregates were employed. If the Khachaturian criteria had been followed one of the controls would have also been diagnosed with involvement of Alzheimer's disease. The aforementioned control and patients with Alzheimer's disease had numerous senile plaques, most of which were diffuse, however, only the patient with senile dementia also had neuritic plaques. This fact indicates the convenience of reviewing the pathologic diagnosis of Alzheimer's disease in two ways: firstly, specific techniques for neurofibrillary degeneration should be included and secondly, the plaques with neurofibrillary degeneration should be quantified since diffuse plaques without degeneration appear to have a questionable significance with respect to this diagnosis.

Aged↗

Astroblastoma: electron microscopy and immunohistochemical findings: case report.

The clinical, histological, immunohistochemical, and electron microscopic features of a cerebral astroblastoma are reported. The patient is a young woman with a superficial parietal tumor. Macroscopic findings include a well-delineated superficial nodule with a hard central core. Histological study disclosed a predominantly papillary tumor with hyalinized vessels. Tumor cells were scarcely positive with immunohistochemical stain for glial fibrillary acidic protein, extensive and diffusely positive with vimentin and neuron-specific enolase, and intensely positive with S-100 and epithelial membrane antigen in the papillary areas. Ultrastructural study showed abundant intermediate filaments forming bundles in tumoral cytoplasms, membrane junctions, and external laminae when cells were in contact with collagen fibers. Based on immunohistochemical and ultrastructural characteristics, we believe that the filaments seen in tumor cells are mainly vimentin filaments. These peculiar immunohistochemical patterns in a glioma may aid in the histological diagnosis of this rare tumor type.

Adult↗

[Congenital fiber-type disproportion: analysis of a series of 11 cases].

We present 11 patients with congenital fiber type disproportion suggesting the existence of two different clinical groups. The first group not associated with other diseases, presents a uniform clinical picture and a generally good prognosis, although the patients with severe respiratory involvement can die. The second group includes the cases in which CFTD is associated with other congenital diseases such as Lowe's Syndrome, Möbius' Syndrome, hypothyroidism and hydrocephalus. In this group the clinical presentation and prognosis is that of the associated disease added to that of CFTD. The frequent association of CFTD with other congenital diseases suggests that CFTD may not be a specific myopathy but a histological abnormality due to different pathogenic insults which interfere with the normal growth and maturation of the muscle fibres.

Abnormalities, Multiple↗