[Carnitine deficiency myopathy: a case of late diagnosis]. / Miopatía por déficit de carnitina: un caso de diagnóstico tardío.

Myopathies caused by lipidic metabolism alterations are very infrequent. Carnitine deficiency-associated myopathies are included in this group. Two main types of carnitine deficiency syndromes have been delineated: a predominantly myopathic form, with normal serum and low muscle carnitine levels, and a systemic form, with encephalopathy, hepatic dysfunction, muscle weakness and low muscle, liver and serum carnitine levels. Both types have typical lipid stores in muscle biopsy. We describe the case of a myopathic form of carnitine deficiency. Due to the age of the patient, this is an unusual case, with an unfavourable evolution. Therapeutic measures used in these patients have included prednisone, carnitine replacement and a low-fat with medium chain tryglycerides and high-carbohydrate diet. However, in none of the patients responding to therapy, a significative increase in muscle carnitine has been demonstrated.

Miopatía por déficit de carnitina: un caso de diagnóstico tardío / Carnitine deficiency myopathy: a case of late diagnosis

Las miopatías causadas por trastornos del metabolismo lipídico son un grupo patológico poco frecuente, entre las que destacan las asociadas a déficit de carnitina. En este grupo se distinguen dos formas clínicas: la forma miopática, que suele cursar con niveles séricos normales de carnitina y concentraciones descendidas en músculo, y la forma sistémica, que cursa con crisis de encefalopatía y disfunción hepática además de la clínica miopática, y en la que suelen estar descendidas las concentraciones de carnitina en suero, músculo e hígado. Ambas formas muestran en la biopsia acúmulos lipídicos característicos. Presentamos el caso de una forma miopática de déficit de carnitina, excepcional por la edad de la paciente en el momento del diagnóstico, cuya evolución fue desfavorable. Se ha descrito que ciertas modificaciones dietéticas, como el uso de triglicéridos de cadena media, la restricción de grasas o el incremento de carbohidratos de la dieta, así como la prednisona y los suplementos orales de carnitina, pueden producir mejorías clínicas, sin modificar significativamente las concentraciones musculares de carnitina (AU)

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[Influence of glycemic blood glucose control and incipient diabetic nephropathy on the urinary excretion of N-acetyl-glucosaminidase (NAG) in diabetes mellitus]. / Influencia del control glucémico y la nefropatía diabética incipiente sobre la excreción urinaria de N-acetil-glucosaminidasa (NAG) en la diabetes mellitus.

Plasma glucose, glycated hemoglobin lc (HbAlc), urinary albumin excretion rate (AER) and urinary N-acetyl-glucosaminidase (NAG): creatinine ratio were studied in 100 normotensive diabetic patients with no evidence of overt renal disease and in 45 controls, to find out whether the glycaemic control and incipient nephropathy may influence the urinary excretion of NAG. Twenty-three of the diabetics had microalbuminuria (group II). Group I comprised the 77 diabetics without microalbuminuria. The groups I and II of diabetics were divided into two according to plasma glucose were greater o smaller to 140 mg/dl. The group I of diabetics had greater NAG: creatinine ratio than controls, too (0.41 +/- 0.24 and 0.16 +/- 0.08 mu/mmol creatinine, p < 0.0005); in this group urinary NAG was found to positively correlate with plasma glucose and creatinine (p < 0.0005, r = 0.45). Multiple regression analysis was performed in the whole of diabetics and significant association were identified between urinary NAG excretion and plasma glucose, AER and plasma creatinine (p < 0.0005, r = 0.42). The diabetics with plasma glucose lower to 140 mg/dl had more important correlation NAG: creatinine ratio-AER (p < 0.0001, r = 0.70). It is concluded that measurement of urinary NAG may be of value in the detection of diabetic nephropathy at a potentially reversible stage if the plasma glucose is take into account.

[Angioimmunoblastic lymphadenopathy. Apropos a case with unusual clinical manifestations and evolution to T-cell lymphoma]. / Linfadenopatía angioinmunoblástica. A propósito de un caso con manifestaciones clínicas inusuales y evolución a linfoma T.

We present the case of a 67-years-old patient which, after treatment with ciprofloxacin, developed fever, exanthema, arthralgias, polyadenopathies, hepatosplenomegaly, autoimmune hemolytic anemia, hypergammaglobulinemia and severe inversion of the CD4/CD8 ratio. Latter, he developed ischemic signs in several locations (splenic and cerebral infarcts), as well as polyneuropathy and inflammatory myopathy. The diagnosis of angioimmunoblastic lymphadenopathy was established through ganglionary biopsy. The patient improved initially with the administration of corticoids, but in a few months, he developed pleomorphic T lymphoma with quick fatal evolution. We discuss the rarity of some of the clinical and laboratory manifestations in this patient and we comment on the association of ciprofloxacin and the angioimmunoblastic lymphadenopathy, which has never been previously described in the international literature.

[Significance of apolipoproteins A and B and the remaining lipid fractions as indicators of protein-calorie malnutrition in the elderly]. / Importancia de las apolipoproteínas A y B y las restantes fracciones lipídicas como indicadoras de desnutrición proteico-calórica en el anciano.

Effects of calorie/protein malnourishment have been studied on plasma concentrations of cholesterol, triglycerides, HDL-C, LDL-C and apolipoproteins A and B, in institutionalized elderly people, 53 males and 62 females, of whom 19 females and 12 males were malnourished. In malnourished patients, total cholesterol and LDL-C were significantly lower both in males and in females, but HDL-C was lower only in females. No significant differences in plasma triglycerides were found between the control and the malnourished groups. Apolipoprotein A showed no significant changes on malnourished males, but did show a significant lowering in malnourished females. On the opposite, apolipoprotein B was lower in males than in females. The lowering in cholesterol in malnourished patients leads us to think that this could be a early predictor of nutritional risk in the elderly.

[The importance of a diet survey in the early detection of malnutrition in the elderly]. / Importancia de la encuesta dietética en la detección temprana de desnutrición en el anciano.

BACKGROUND: The elevated incidence of malnutrition in the elderly and its close relation with the prevalence and evolution of determined diseases raises the need for early identification. Despite the existence of numerous indicators, specificity, sensitivity or occasionally both are lacking. METHODS: One hundred fifteen institutionalized elderly of which 19 females and 12 males had signs of malnutrition were studied. A dietetic survey was carried out on all of those studied by means of a 24 hour recollection-interview, during which triceps fold (TF) and muscular area of the arm (MAA) were measured and serum concentrations of prealbumin (PA) protein bound to retinol (PBR), albumin (ALB), trasferrin (TNF) and complement factor 3 (C3) were determined. RESULTS: Not only caloric but also proteic intake were significantly lower in the undernourished (p less than 0.001) as with ALB (p less than 0.001), TNF (p less than 0.001) and C3 (p less than 0.02 in males and p less than 0.05 in females). However, the sensitivity demonstrated by the dietetic survey (77% in males and 73% in females) was higher to that presented by ALB (44% in males and 53% in females), TNF (33% in males and 53% in females) and C3 (0 in both sexes). CONCLUSIONS: The results obtained demonstrate that the dietetic survey is a valid method for detecting not only the risk but also the subclinical presence of malnutrition, in contrast to ALB, TNF and C3 which, to that end, were of less use.

[Clinical remission in Cushing's disease through treatment with sodium valproate and bromocriptine]. / Remisión clínica de una enfermedad de Cushing mediante tratamiento combinado con valproato sódico y bromocriptina.

A patient suffering Cushing disease is presented in whom the administration of ciproheptadine, bromocriptine and sodium valproate in a single dose did not manage to control the clinical-biologic manifestations of the process. Combined treatment with 1.200 mg/day of sodium valproate and 15 mg/day of bromocriptine induced a complete clinical-biological remission, being arterial pressure the last parameter to normalize. The patient who has always refused to undergo surgery has stayed with this treatment for three years, maintaining remission and without appearance of side effects. On two occasions (after one and a half years and after two and half years) the transitory interruption of treatment induced in a few weeks an increase in plasma cortisol levels which again normalized after treatment was re-established. There were no clinical-biological data, pharmacological tests which permitted the prediction of these therapeutic results and therefore, the therapeutic response obtained is not indicative of any specific etiological subtype of Cushing disease.

[Changes in the hypophyseal-thyroid axis and their prognostic value in sepsis]. / Modificaciones del eje hipofisotiroideo y su valor pronóstico en el curso de la sepsis.

The alterations in serum concentration of thyroxine (T4), tri-iodine-thyronine (T3), reverse tri-iodinetiroinine (rT3), thyrotropine (TSH and free thyroxine index (IT4L), are studied in 37 patients diagnosed of sepsis who were divided into two groups according to their evolution: Group A: 22 patients who evolved favourably, and Group B: 15 patients who died, as well as in 14 healthy controls; this was carried out in order to establish, on one hand, its prognostic value, and, on the other, which of these parameters is most useful in the evaluation of thyroid function in these patients. A decrease in serum T3 levels was observed in patients from both groups (p less than 0.001) which was accompanied by an increase in rT3 levels (p less than 0.001) and a decrease in It4L (p less than 0.001); No significant modifications were observed in T4 and TSH. On follow up of 12 patients from group A and 14 from group B, an increase in mean T3 concentration was observed (p less than 0.02) only in the first patient from both groups. The greatest discriminative efficacy of thyroid hormones study with an unfavorable sepsis evolution corresponded to a T3 value below 35 ng/dl.

[The partial inhibition of the growth hormone response to growth hormone-releasing hormone after the administration of the calcium antagonist verapamil]. / Inhibición parcial de la respuesta de hormona de crecimiento a la hormona liberadora de hormona de crecimiento tras la administración del antagonista del calcio verapamil.

The changes produced by administering a calcium channel antagonist on the releasing of growth hormone (GH) induced by the growth hormone-releasing factor (GHRF), are studied. The study was performed on 7 healthy males between 25 and 35 years old, fasting and in bed. We measured the release of GH after the intravenous administration of 250 micrograms of GHRF on 2 successive occasions; one baseline and the second after 3 previous continuous days of 240 mg/day of verapamil. There were no statistically significant differences between the basal concentrations of GH before and after the administration of verapamil. However, the response of GH to GHRF, measured as maximum increase (before verapamil: 12.5 +/- 5.3; after verapamil: 9.5 +/- 3.9 ng/ml and total increase (before verapamil: 29.6 +/- 12.4; after verapamil: 21.6 +/- 11.9 ng/ml) was significantly lower after verapamil produces a partial blockade of GH release induced by GHRF.

[Serum levels of lipids, lipoproteins and apoproteins (A, A-1, and B) in diabetes mellitus type I. Their relationship with the degree of metabolic control]. / Niveles séricos de lípidos, lipoproteínas y apoproteínas (A, A-1 y B) en la diabetes mellitus tipo I. Su relación con el grado de control metabólico.

We studied the role played by an adequate metabolic control on lipids, lipoproteins, apolipoprotein A (apo A), apolipoprotein A-I (apo A-I) and apolipoprotein B (apo B), in 30 type I diabetic patients at different states of the diseases. We did not observe significant differences, comparing the mean values of lipids and lipoproteins, in the group of patients with good metabolic control. Patients, without appropriate diabetic control, showed values significantly higher in triglycerides and VLDL-C and significantly lower in HDL-C compared to the values of the control group. In respect of the apoprotein pattern, we did not observe significant differences between controlled diabetic patients; while non-controlled diabetic patients showed mean values higher of apo B, but no differences between apo A and apo A-I. Our results support the previous evidence published by other authors, confirming the relationship between an adequate diabetic control and the onset of lipoprotein changes, that can play a causal role in arteriosclerosis.