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Biomedical subjects

A Miranda

Publications and source records attributed to A Miranda.

At least 127 records · Page 7Linked to original sources
PubMedDate not supplied

Lipid storage myopathy, ichthyosis, and steatorrhea.

A 41-year-old man had ichtyrosis, ectropion, steatorrhea, and slowly progressive proximal limb weakness. Biopsies showed abnormal lipid accumulation in muscle, liver skin, leukocytes, and gastric mucosa. Lipid storage was particularly marked in cultures of skin and muscle, and it increased in subsequent cell generations. By electron microscopy, the lipid globules showed no limiting membranes. The stored lipid was identified by thin-layer chromatography as triglyceride; there was no excess of cholesterol or cholesteryl esters. Muscle carnitine concentration and activities of carnitine palmityltransferase and acid lipase were normal; 14CO2 production from labeled palmitate in leukocytes was not impaired. The excessive accumulation of triglyceride in different tissues and in the progeny of cells in tissue culture suggests a genetic error of lipid metabolism.

Adult↗
PubMedDate not supplied

Reduced olfactory performance in patients with major depression.

The aim of the present study is to investigate olfactory sensitivity and odor evaluations in a homogeneous sample of unipolar depressive patients using pure olfactory odors. Twenty-four in-patients with major depressive disorder (MDD) were investigated during their acute depressive phase. Eighteen of them participated a second time after successful treatment. A group of healthy subjects, matched by age, sex, and smoking behavior, served as a control. Olfactory sensitivity, as measured by threshold tests, was strongly reduced in patients with severe depression. Additional correlative analyses revealed that the lowered sensitivity could partly be predicted by high depression scores. After successful medical treatment, these sensitivity differences were reduced and did not reach the significance level. The subjective odor evaluations (valence and intensity ratings) were not markedly changed in general. The results reveal that olfactory performance in MDD patients is reduced at an early perceptional level of stimulus processing. It is discussed whether this effect can be attributed to the close functional connection between the main olfactory bulb and the amygdala.

Adult↗
PubMedDate not supplied

Is attribution retraining necessary? Use of self-regulation procedures for enhancing the reading comprehension strategies of children with learning disabilities.

The present study investigates the need to include explicit attribution retraining in a program designed to teach reading comprehension strategies to children with learning disabilities (LD). The program had two versions: (a) self-regulation procedures and (b) self-regulation procedures plus explicit attributional retraining. Sixty children with LD were assigned to two training groups (with and without attributional retraining) and a control group. Twenty normally achieving students served as an additional control group. The effects were assessed via attribution measures and cognitive and metacognitive reading comprehension tests. Results indicated that children from both training groups improved on measures of cognitive strategies, but their gains were very low on metacognitive measures. In addition, regardless of training condition, students from both groups showed equally good attribution profiles.

Behavior Therapy↗
PubMedDate not supplied

[Genetic determinant factors of resistance to HIV infection and of control of progression to AIDS: implications on pathogenesis and therapeutic approaches for the eradication of HIV. A review].

In this review, we describe and discuss the genetic factors that, up to some point, determine resistance to the infection and control the progression of the disease in HIV-infected individuals. Genetic factors may account for non-progression or slow progression of the disease in some of so called long-term non progressors HIV-infected individuals. In general, this group shows no symptoms for more than 10 years, while their circulating T CD4+ cells levels remain stable and they usually have a low virus load. Even though non-progression and rapid progression phenomenon are still not fully understood, there probability exists that some class I and class II MHC alleles are associated with a greater or smaller risk to develop AIDS. Class I HLA-B*35 and Cw*04 alleles are the ones commonly associated with the rapid transition of the infection into AIDS. In contrast, heterozygosity for class I HLA alleles and, particularly, the absence of HLA-B*35 and Cw*04 may contribute to non-progression. Studies which set forward other HLA alleles as possibly taking part of the pathogenic mechanism of non-progression are also described; although, relevant methodological problems can be noticed. Furthermore, this review explains and discusses allelic variations for some of the components of the chemokine receptors family, particularly the genes which codify for CCR5 and CCR2 and other genetic factors such as the SDF1-3'. A variant of the alpha SDF1 chemokine gene that have been associated with AIDS' slow progression or non-progression in HIV-infected individuals. As a whole, the factors described in this review are those that influence the natural history of the disease due to HIV and give an example of what genetic or multigenetic influence can have over the pattern of evolution of HIV infection. Finally, we mention the possible implications that the identification of the genetic markers has in the pathogenesis of HIV disease and in the development of the new therapeutic strategies to control or eliminate HIV.

Acquired Immunodeficiency Syndrome↗
PubMedDate not supplied

[Mature onset diabetes of the young (MODY)].

Maturity-onset diabetes of the young (MODY) is a rare form of juvenile diabetes mellitus, defined by early onset, absence of ketosis, non-insulin-dependent diabetes and autosomal dominant inheritance. Advances in molecular genetic analysis have identified mutations accounting for different MODY subtypes, all of them associated with defects of insulin secretion. We present a case of a nine year-old boy, admitted to our outpatient clinic because of mild and intermittent osmotic symptoms (polyuria, polyphagia and polydipsia) and persistently high values of fasting blood glucose in the last year. He had a family history of diabetes in three consecutive generations compatible with autossomal dominant inheritance. His height was 138.5 cm (90th centile) and his weight was 33.5 Kg (90th centile). General examination was unremarkable, in a prepubertal boy. A standard oral glucose tolerance test was performed. The fasting blood glucose was 118 mg/dl with a two hour value of 160 mg/dl. ICA, IAA and GAD autoantibodies were undetectable. He started on diet therapy, keeping his fasting blood glucose measurements on the upper limits of normal and HbA1c in the normal range. He was diagnosed as having MODY 2 on a clinical basis, as it is not possible to perform molecular analysis of this pathology in Portugal. As MODY is recently thought to account for 2-5% of all cases of type 2 Diabetes Mellitus it is important to consider it as a possible diagnosis in children who present with incidental hyperglycaemia. Molecular genetic testing is very important as it enables us to make a firm diagnosis of MODY, to define a follow up plan and to reassure patients families, once the prognosis is significantly different among the different sub-types of MODY. We emphathize the need of creating national and international reference centres where such testing can be done.

Blood Glucose↗
PubMedDate not supplied

[Analysis of the interference pattern in patients with muscular dystrophy].

INTRODUCTION: The conventional electromyography contribute to differentiation of myopatic and neuropatic patterns in neuromuscular disorders, however, the classical patterns related to myopatic changes can result in neurogenic components, this confusion could be due to denervation and reinervation changes involved at the different stages of those diseases. OBJECTIVE: Demonstrate the importance of quantitative electromyographic techniques, as the interference pattern analysis (IPA), for a better differentiation of muscular dystrophies. PATIENTS AND METHODS: IPA was done in 95 patients with 3 different muscular dystrophies: 52 Duchenne muscular dystrophy (DMD), 33 limb girdle muscular dystrophy (LGMD) and 10 myotonic muscular dystrophy (MD) individuals and in a control group of 25 individuals. The left braquial biceps and right anterior tibial muscles were evaluated; the variables analyzed were turns/seconds (t/s), amplitude/turns (a/t), ratio turns/amplitude mean and root squared mean (RSM). RESULTS: We found statistical significant differences in all variables in both braquial biceps and right anterior tibial muscles (p < 0.05) in DMD patients. In LGMD we only found differences in a/t in braquial biceps. In MD the differences were observed in a/t, ratio and RSM in braquial biceps, and in a/t (in anterior tibial). CONCLUSIONS: All the DMD patients show differences in IPA values in relation to control group, MD only in biceps, However there were not important changes in LGMD probably because the diversity and lack of homogeneity in affected muscles in this group.

Adolescent↗
PubMedDate not supplied

[Pheochromocytoma: review of the preoperative treatment and anesthesiologic technic in 14 patients].

Fourteen patients operated for pheochromocytoma from 1978 to 1988 are reviewed. The preoperative treatment with adrenergic blockers is analyzed: phenoxybenzamine with final doses of 10-140 mg/day (mean 55.4 mg/day) and propranolol with doses of 40-80 mg/day (mean 50 mg/day). The premedications and anesthetic techniques are compared, the use of droperidol being discouraged because of the development of hypertensive paroxysms both preoperatively and postoperatively. The new benzodiazepines are offered as an alternative. The treatment of hypertensive paroxysms with phentolamine with total doses of 2.5-35 mg and that of peroperative arrhythmias with propranolol with total doses of 1-6 mg are reported. The recently described therapeutic approaches are also discussed.

Adrenal Gland Neoplasms↗
PubMedDate not supplied

[Treatment of extreme obesity].

23 patients whose weight varied from ninety-eight to 220 kilos were subjected to four different types of jejuno-ileal by pass operations: terminal-lateral (14 X 4) in three, terminal-terminal (14 X 4) in fifteen, (12 X 8) in two, and (10 X 8) in three. The defunctionalized intestine was anastomized to the transverse colon. Liver, jejenum and ileal biopsies as well as profilactic apendectomy were performed in all the cases along with colecistectomy when possible. All our patients were carefully studied in the pre and postoperative periods. The postoperative follow-up varied from 16 to 72 months, during which time a short and long-term mortality of 8.6% was observed. In eight patients it was necessary to reestablish normal intestinal transit for one or two reasons: rapid weight loss or total lack of patient cooperation. During the first few months post-op, diarrhea, nausea, vomiting, loss of apetite, weakness, inactivity, depression, electrolyte anormalities, anemia and increased hepatic esteatosis were the clinical and pathological findings most frequently encountered. With the cooperation of the patient it is possible to correct all these alterations: it is for this reason that the importance of right patient selection is emphasized. The rate of post-operative weight loss varied from patient to patient with an ideal weight being achieved between 18 and 24 months after the operation. Only in those patients reoperated upon to establish normal intestinal transit was the lost weight recuperated. Along with rigid patient selection, the success of this operation depends upon interspecialty teamwork during the preoperative evaluation as well as the follow up period in order to resolve the intricate physio-pathological problems that so frequently arise.

Adolescent↗