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Biomedical subjects

C Fachal

Publications and source records attributed to C Fachal.

12 recordsLinked to original sources

[A brain tissue bank in a neuropathology laboratory. Basic methodology].

The Meixoeiro Hospital Brain Bank (BB) was established at the end of 2002. A BB is a tissue collection and storage system, established under the best conditions to carry out prospective morphological, biochemical or molecular studies. The BB should ideally be supported by a donor program, although samples may also be obtained from autopsy material from patients with neurodegenerative diseases. Recruitment of control cases from brains without neurological diseases is basic. The main goal of a BB is to provide brain tissue for research. Each case requires accurate clinical data, a definite diagnosis and optimal conditions of tissue preservation. The use of protocols to standardize the handling and processing of tissues, data recruitment and neuropathological diagnosis is fundamental to assure the quality and homogeneity of samples. Close collaboration between neuropathologists, neurologists and other specialists is essential in all the process. Although important advances in the tissue banking field have been achieved, the number of donors in Spain still remains low. Stronger institutional support as well as public awareness through better diffusion of the information is necessary to increase the number of donors and improve BB development.

Brain↗

[Intestinal metaplasia at the esophagogastric junction. Prevelence and association in patients undergoing endoscopy].

AIM: Short segments of intestinal metaplasia (IM) at the esophagogastric junction is an unclear entity. Several studies have reported wide variations in its prevalence and in the factors associated with its development. Recently, this entity has been divided into esophageal IM and cardiac IM, as two different lesions in etiopathogenesis and prognosis. We studied the prevalence of these conditions and their association with gastroesophageal reflux disease (GERD) and Helicobacter pylori infection. METHODS: In 161 patients, biopsies were obtained from the distal esophagus (2), just below the Z line (3), and in the gastric antrum (4). IM was diagnosed on the basis of staining of goblet cells with Alcian blue and was classified as esophageal if ILZ < IEG or cardiac ILZ = IEG. H. pylori was determined by rapid urease (CLO-test) and histology. Diagnosis of GERD was based on typical symptoms, endoscopy, and histology. In 54 patients with IM (73%) esophageal manometry and 24-hour pH-metry was also performed. RESULTS: IM was detected in 74 patients (46%); IM was esophageal in 33 patients (20.5%) and cardiac in 41 patients (25.4%). Patients with IM were significantly older than those without (p = 0.007) and took proton pump inhibitors more frequently (p = 0.004). No correlation was found between reflux symptoms, esophageal lesions or histological changes with either type of IM. No differences between esophageal or cardiac IM were detected by esophageal pH-metry. H. pylori infection was unrelated to cardiac IM, but these patients had a lower frequency of endoscopic and histological changes in the distal esophagus. CONCLUSIONS: Intestinal metaplasia is a common finding in patients sent for gastroscopy and is probably an acquired lesion that increases in prevalence with age. We found no associations between esophageal IM and GERD, evaluated by typical symptoms, endoscopic and histological changes and pH-metry. H. pylori infection showed no relation to cardiac IM.

Adult↗

Lipoid proteinosis. A biochemical and ultrastructural investigation of two new cases.

Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and visceral lesions, in which large amounts of amorphous material are constantly found in stroma. Morphological and biochemical studies indicate abnormal collagen production, but little attention has been paid to the lipid component of lesions. Microscopic and ultrastructural studies of skin, with special emphasis on fibroblasts, vessels, nerve endings and eccrine sweat glands, were conducted in two patients with lipoid proteinosis. Biochemical studies were undertaken in cultured fibroblasts. Evidence of lysosomal storage in epithelial cells of eccrine sweat glands and in dermal histiocytes, very similar to that found in some metabolic disorders, particularly Farber disease, was found in both cases. Our findings suggest that two alterations might coexist in lipoid proteinosis, one characterized by impaired normal collagen production and the other related to a metabolic defect which may lead to accumulation of ceramide or more complex lipids.

Adult↗

Late juvenile metachromatic leukodystrophy treated with bone marrow transplantation; a 4-year follow-up study.

We treated a 28-year-old woman who had metachromatic leukodystrophy with bone marrow transplantation. Leukocyte arylsulfatase A levels increased to the donor's range after successful graft. Motor and sensory nerve conduction values did not change significantly in the 4 years after the transplant, and subcortical white matter lesions, as shown on MRI, remained stable during that period of time. The results, after 4 years of follow-up, indicate that the disease has not progressed and signs and symptoms are stabilized.

Adult↗

[Invasive pulmonary aspergillosis. Necropsy series].

Invasive pulmonary aspergillosis (IPA) is a severe infection which is usually diagnosed at postmortem examination. This infection occurs mainly in immunosuppressed patients, although it has also been reported in immunocompetent patients. Clinical records from patients diagnosed with IPA in our institution from 1983 to 1992 were retrospectively studied to analyse clinical and therapeutical characteristics of IPA. Sixteen episodes of IPA were recorded, all of them but one from necrotic specimens. A total of 18.7% of patients were immunocompetent, one patient had the acquired immunodeficiency syndrome (AIDS), and the remaining patients had a classical immunosuppression. Fever and dyspnea were noted in all patients; hemoptysis was recorded in 12.5% of patients. The predominant radiological pattern was a bilateral alveolar infiltrate (75%). Diagnosis was made at postmortem examination in 15 cases (93.7%), and a clinical premortem suspicion was obtained only in 25% of patients. IPA can occur in immunocompetent patients more frequently than considered until now. The suspicion index for IPA is low, even in immunosuppressed patients.

Adult↗

Testicular carcinoma in situ associated with rhabdomyosarcoma of the spermatic cord.

A 12-year-old boy had an embryonal rhabdomyosarcoma in the distal portion of the spermatic cord. The tumor partially surrounded the testis, infiltrated the testicular tunics and formed an intratesticular nodule near the rete testis. The unaffected testicular parenchyma exhibited the characteristic germ cells of carcinoma in situ. We describe an association between these 2 types of tumors.

Carcinoma in Situ↗

Significance of DNA quantification in testicular germ cell tumors.

A cytophotometric quantification of DNA in tumor cells was performed in histological sections of orchidectomy specimens from 36 men with testicular germ cell tumors (TGCT), 7 of them showing more than one tumor type. Among the variants of seminoma (classic and spermatocytic) the lowest DNA content were in spermatocytic seminoma. With respect to non-seminomatous tumors (yolk sac tumor, embryonal carcinoma, teratoma, and choriocarcinoma), choriocarcinomas showed the highest DNA content, and the lowest value was found in teratomas. No significant differences were found between the average DNA content of seminomas (all types) and non-seminomatous tumors (all types). Both embryonal carcinoma and yolk sac tumor showed similar DNA content when they were the sole tumor and when they were found associated with other tumors. In this study, except for the 4 cases of teratoma and the case of spermatocytic seminoma, all TGCT examined did not show modal values of DNA content in the diploid range. Such an elevated frequency of aneuploidism in these tumors may be helpful for their diagnosis.

Adult↗