Tumor phyllodes de la mama: nuestra experiencia durante 11 años y revisión de la literatura / Phyllodes breast tumour: experience over 11 years and literature review

Objetivo: Analizar el perfil de las pacientes diagnosticadas de tumores phyllodes en nuestra área sanitaria. Material y métodos: Se presenta un estudio descriptivo retrospectivo de las pacientes diagnosticadas de tumor phyllodes en nuestro centro entre los años 2008 y 2019. Resultados: La edad media, el tamaño tumoral y la tasa de recidiva a 10 años fueron mayores en el grupo con tumores borderline-malignos. El tiempo medio de recidiva locorregional fue mayor en el grupo con tumores benignos que en el grupo borderline-maligno. El tipo histológico fue la única variable que demostró favorecer la recidiva local. El tamaño tumoral no se relacionó con el riesgo de recidiva locorregional. Conclusiones: El tipo histológico fue la única variable que demostró actuar como factor pronóstico de recidiva local. El tamaño tumoral no se relacionó con el riesgo de recidiva locorregional.(AU)

Objective: To analyse the profile of patients diagnosed with phyllodes tumours in a healthcare area. Material and methods: A retrospective descriptive study is presented on patients diagnosed with phyllodes tumour in a healthcare area between 2008 and 2019. Results: Mean age, tumour size, and recurrence rate at 10 years were higher in the group with borderline-malignant tumours. The mean time of locoregional recurrence was higher in the group with benign tumours than in the borderline-malignant group. The histological type was the only variable that showed to favour local recurrence. Tumour size was not related to the risk of locoregional recurrence. Conclusions: The histological type was the only variable that appeared to act as a prognostic factor for local recurrence. Tumour size was not related to the risk of locoregional recurrence.(AU)

Ectópico abdominal complicado con hemoperitoneo / Complicated abdominal ectopic with haemoperitoneum

El embarazo abdominal es una modalidad extremadamente rara de embarazo ectópico (EE) extratubárico, con muy pocos casos documentados en la literatura. La mortalidad materna es mayor que en los EE tubáricos por la demora en el diagnóstico y las complicaciones. Presentamos un caso de EE abdominal que se complicó con la aparición de hemoperitoneo severo en el primer trimestre de gestación. En nuestro caso, fueron necesarias 2 laparoscopias de urgencia en menos de 24 h hasta poder dar con el diagnóstico definitivo, lo cual demuestra lo dificultoso que puede llegar a ser la identificación de esta enfermedad en estadios precoces

Abdominal ectopic pregnancy is an extremely rare type of extratubal ectopic (EE) pregnancy, with very few cases documented in the literature. Maternal mortality is higher than in tubal EE because of the delay in diagnosis and complications. The case is presented of a patient with an abdominal EE that was complicated by the appearance of severe haemoperitoneum in the first trimester of pregnancy. In this case, two emergency laparoscopies were needed in less than 24 hours, until the definitive diagnosis could be found. This demonstrates how difficult it can be to identify this pathology in its early stages

[Online versus non-standard face to face preoperative assessment: cost effectiveness]. / Evaluación preoperatoria «on line¼ frente a evaluación presencial: optimización de recursos.

OBJECTIVES: We evaluate the efficiency of an online preoperative assessment service that allows early triage of patients that require further assessment in advance of the clinic and reduces the number of preoperative tests. METHODS: We developed a preoperative assessment process where the anesthesiologist collected on-line information without the physical attendance of the patient that included the patient's health history and all the preoperative tests performed in the primary and hospital care. Once confirmed this information by a telephone call, the anesthesiologist identified those patients that required further face to face assessment and limited the number of preoperative tests according to the complexity of the operative procedure and the anesthetic risk. In some procedures trained nursery collected on - line information and in certain cases consulted the anesthesiologist. We compared a cohort of preoperative patients before (2008) and after (2010) developing this online preoperative assessment process. We determined in both periods the number of face to face preoperative assessments and preoperative tests performed. Finally, we compared the cancellation rate in both periods. RESULTS: 5112 elective surgical procedures in 2008 and 6867 elective surgical procedures in 2010 were assessed. In 2010, face to face preoperative assessments dropped to 21%, the number of laboratory tests 15%, the number of electrocardiograms 6% and the number of chest x-rays 1%. The cancellations rate didn't differ between 2008 (2,3%) and 2010 (1.75%). CONCLUSIONS: This preoperative process optimizes the resources reducing the number of face to face preoperative assessments and preoperative tests without increasing the cancellations rate.

Prevalence of insulin resistance and impaired glucose tolerance in a sample of obese Spanish children and adolescents.

The prevalence of obesity in children has increased in developed countries in the last decades. It is associated with alterations in glucose metabolism that may be present in childhood. To assess the frequency of glucose metabolism alterations and insulin resistance and their possible determinants in a sample of obese children from Valladolid (Spain), we retrospectively studied 100 obese children and adolescents (11.59 ± 2.73 years). Anthropometric measures, biochemical parameters, and oral glucose tolerance test (OGTT) were performed. Insulin resistance was evaluated with fasting insulin, HOMA index, and insulin values in OGTT. Impaired glucose tolerance was found in 15% of the sample, and was the most frequent of glucose metabolism alterations. Impaired fasting glucose was found in 2%. No case of type 2 diabetes was found. Acanthosis nigricans was present in 22%, with predominance in females, but not all presented insulin resistance. The prevalence of insulin resistance was 29% when HOMA index was used, and 50% when the insulin response in OGTT was used. Not all patients with impaired glucose tolerance had a pathological HOMA index, and not all with pathological HOMA index presented insulin resistance when insulin values in OGTT were used. Higher 2-h post-OGTT insulin levels were found in children with impaired glucose tolerance. It is paramount to identify young people with glucose regulation alterations for early, intensive intervention to prevent or at least postpone the onset of type 2 diabetes. OGTT is a screening tool necessary to fulfill this objective.

Klinefelter syndrome and short stature: an unusual combination.

Klinefelter syndrome is not easy to diagnose in childhood because of the absence of significant manifestations before puberty. Three main clinical signs should suggest the diagnosis in a child: small testes, tall stature, and mental retardation or learning problems. We present a patient with Klinefelter syndrome and short stature due to growth hormone deficiency. His height was below the third percentile for age and his bone age delayed. Maximal serum GH levels after insulin-induced hypoglycemia and clonidine were low, demonstrating GH deficiency. He received growth hormone treatment with good response. The diagnosis of Klinefelter syndrome was made at puberty, because the patient did not present a normal progression of testicular development and puberty. At that moment, a karyotype was made confirming the suspected diagnosis. We wish to emphasize the rare association between Klinefelter syndrome and growth hormone deficiency.

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

BACKGROUND: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). OBJECTIVE: The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of Spanish patients. SETTING: We studied a series of 133 index patients with 46,XY DSD in whom gonads were differentiated as testes, with phenotypes including varying degrees of undervirilization, and in whom the AR gene was the first candidate for a molecular analysis. METHODS: The AR gene was sequenced (exons 1 to 8 with intronic flanking regions) in all patients and in family members of 61% of AR-mutated gene patients. RESULTS: AR gene mutations were found in 59 individuals (44.4% of index patients), of whom 46 (78%) were CAIS and 13 (22%) PAIS. Fifty-seven different mutations were found: 21.0% located in exon 1, 15.8% in exons 2 and 3, 57.9% in exons 4-8, and 5.3% intronic. Twenty-three mutations (40.4%) had been previously described and 34 (59.6%) were novel. CONCLUSIONS: AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.

Gasto energetic y obesidad / Energy output and obesity

Se efectúa un trabajo de revisión sobre el gasto energético, sus componentes y métodos de valoración del mismo, centrado en la aplicación de todos estos conceptos sobre la obesidad infantil y la juvenil. La parte teórica inicial del trabajo está orientada a la comprensión adecuada del estudio efectuado en una población de 70 niños y adolescentes obesos que se describe en una segunda parte. El gasto calórico en reposo (GER) fue determinado por calorimetría indirecta y por las ecuaciones clásicas de estimación del gasto, generando el dato del gasto energético total (GET), tras determinar el factor de actividad física (FA). Se analizan de forma combinada los datos relativos a la ingesta calórica, mediante encuesta de tres días no consecutivos incluyendo un festivo y los datos del cociente respiratorio (CI) y la oxidación de sustratos (AU)

We present and energy expenditure review, its components and mechanism of evaluation focused on infantile and juvenile obesity. The initial theorical part is oriented to the correct comprehension of the study made in an population of obese children and adolescents (range 8-18 years) that we describe in the second part. Initial nutritional assessment included anthropometrics and bioimpedance. The resting energy expenditure (REE) was measured by indirect calorimetry and by the classics equations’ for the estimation of energy expenditure, giving rise to the total energy expenditure value (TEE) taking into account the physical activity (PA). We perform a multivariate analysis of the caloric intake estimated by, a three non consecutive day including a holiday, intake surveys the respiratory quotient (RQ) and the substrate oxidation (AU)

Síndromes poliglandulares autoinmunes / Polyglandular autounnybe syndrome

Los síndromes poliglandulares autoinmunes (SPA) agrupan enfermedades endocrinas y no endocrinas en un mismo paciente. Existen 4 tipos SPA (SPA 1, SPA 2, SPA 3 y SPA4), netamente diferenciados en orden a su frecuencia, edad de aparición, herencia, asociación con los genes del sistema HLA y agrupación de las enfermedades que los constituyen El síndrome IPEX asocia un fallo inmunitario con una poliendocrinopatía y una enteropatía de carácter autoinmune. Se comentan las características diferenciales, los hallazgos inmunogenéticos respectivos y se aboga por la necesidad de organizar estudios multicéntricos y protocolos de seguimiento en los pacientes sus familiares (AU)

The term Autoimmune Polyglandular Syndromes includes endocrine and not endocrine diseases which occurs in the same patient. There are four types of APS (APS 1, APS 2, APS 3 and APS 4) clearly differentiated by its frequency, age of presentation, association to HLA genes and the diseases included in each type. The syndrome IPEX includes immune dysregulation, autoimmune enteropathy and polyendocrinopaty autoimmune. Differential characteristics and inmunogenetic findings are discussed and, based on the recent advances, we support the need of organizing multicentric studies and protocols for the follow-up of patients and relatives (AU)

A palaeolithic map from 13,660 calBP: engraved stone blocks from the Late Magdalenian in Abauntz Cave (Navarra, Spain).

An engraved block from the cave of Abauntz is interpreted as a Magdalenian map in which the actual surrounding landscape, including mountains, rivers, and ponds, is represented. Some possible routes or avenues of access to different parts of the geography are also engraved on the landscape. The engraving seems to reproduce the meandering course of a river crossing the upper part of side A of the block, joined by two tributaries near two mountains. One of these is identical to the mountain that can be seen from the cave, with herds of ibex depicted on its hillsides, on both sides of the gorge in front of which the cave of Abauntz is strategically located. In the southern part of the gorge, there is a completely flat area where the watercourses slow down, forming meanders and flooding in springtime. The following elements are also represented on the block: tangles of concentric strokes and bundles of lines forming very marked meanders. In short, all of these engravings could be a sketch or a simple map of the area around the cave. It could represent the plan for a coming hunt or perhaps a narrative story of one that had already happened. This paper is provided in the context of recent discussions on early modern human capacities of spatial awareness, planning, and organized hunting.

Effects of cholinergic blockade on nocturnal thyrotropin and growth hormone (GH) secretion in type I diabetes mellitus: further evidence supporting somatostatin's involvement in GH suppression.

To investigate the influence of cholinergic pathways on somatostatin (SS) tone in type I diabetes mellitus, we studied the effect of the muscarinic receptor antagonist pirenzepine ([PZP] 100 mg orally) on spontaneous nocturnal growth hormone (GH) and thyrotropin (TSH) secretion and on their response to GH-releasing hormone (GHRH) in the morning in a group of nine insulin-dependent diabetic patients with poor diabetic control. When the nocturnal period was divided into two phases (11:00 PM to 2:30 AM and 3:00 AM to 6:00 AM), both GH and TSH mean concentrations during the first phase were higher than those seen in the second half of the night following placebo administration (GH, 13.4 +/- 1.1 v 4.15 +/- 0.9 ng/mL, P < .001; TSH, 1.9 +/- 0.21 v 1.57 +/- 0.1 microU/mL, P < .05). Pretreatment with PZP induced a significant reduction of GH secretion (3.17 +/- 1.1 v 13.4 +/- 1.1 ng/mL, P < .001) and TSH secretion (1.61 +/- 0.21 microU/mL, P < .05) in the first phase of the night, accounting for a 64% and 11% reduction in the GH and TSH nocturnal peak, respectively. PZP reduced the GH response to GHRH in the morning (17.9 +/- 2.7 v 36.7 +/- 6.3 ng/mL, P < .05), but did not induce any change in TSH values at that time. A positive relationship (r = .73, P < .01) was observed between the percent reduction of the GH response to GHRH and that of the nocturnal GH peak following PZP administration. PZP caused a significant reduction in glucose levels during the second phase of the night (6.4 +/- 0.92 v 9.81 +/- 0.85 mmol/L, P < .05). These results demonstrate that administration of PZP reduces GH and TSH secretion, providing further support for the involvement of SS in the inhibition of GH secretion induced by cholinergic antagonists in type I diabetics. The inhibitory effect of PZP on GHRH-induced GH secretion may help to predict nocturnal GH behavior following administration of the drug.

[Nutrition, energy balance, and obesity]. / Nutrición, balance energético y obesidad.

Energy supply from foods and drinks depends upon carbohydrate, protein, lipid and alcohol content. Cells obtain the energy through a complex and integrated system of physico-chemical processes. The energy value of foods is applied for ATP formation, but also for nutrient utilization and turnover. Net energy from foods is expended for basal metabolism, thermic effect of food and physical activity. Total energy expenditure for human beings is displayed in different lists developed by national and international organisms and institutions. Energy balance and body weight are narrowly interrelated as well as body composition, which depends also of age, sex, exercise and neuroendocrine status. Obesity, is known as an excessive deposition of fat for height, and it is associated with cancer, dislipemias, endocrine abnormalities, diabetes, etc. Recent advances suggest that genetic and neuroendocrine factors are more involved in obesity rather than gluttony or sloth as previously reported.

[Gynecomastia]. / Ginecomastia.

The development of excess breast tissue in the male, known as gynecomastia, is a common finding seen by physicians. It is a source of embarrassment to the adolescent and of surprise and concern to the older male. The main challenge to the physician lies in separating the patients with gynecomastia as a symptom of a serious underlying disease, requiring specific treatment, from the vast majority of individuals with gynecomastia, in whom there is no underlying pathology. Numerous pathogenic mechanisms have been involved in the genesis of gynecomastia, leading all to an increased net estrogen/androgen ratio that effectively acts at the target tissue (breast). Special emphasis must be done in puberal gynecomastia since 50 to 75% of boys in these developments phase have a breast enlargement. In the present paper we provide an overall review of hormonal pathogenesis and diagnostic clues, as well as current therapeutic guidelines regarding gynecomastia.

Cholinergic modulation of spontaneous hypothalamic-pituitary-adrenal activity and its circadian variation in man.

Controversy still exists regarding the role of cholinergic pathways in the regulation of the hypothalamic-pituitary-adrenal axis in man. We studied the effects of the administration of placebo, pyridostigmine (PD); 120 mg, orally), and the combination of PD and pirenzepine (PZP; 100 mg, orally) on ACTH, cortisol, and GH secretion at 0730 and 2230 h in seven normal males. PD induced a clear decrease in ACTH levels at both times of the day compared to treatment with placebo, producing higher suppression in the nocturnal period (34.4 +/- 5.8% vs. 21.8 +/- 10.7%). The combination PD and PZP prevented the inhibitory action of PD on ACTH secretion in the morning, but not in the evening, when ACTH values showed a decrease similar to that seen after giving PD alone (38.1 +/- 5.6% vs. 34.4 +/- 5.8%, respectively). Cortisol values declined only when the association PD plus PZP was given in the evening. GH levels had a significant increase after PD administration in the morning (4.1 +/- 1.2 ng/mL) and in the evening (10.2 +/- 1.6 ng/mL), confirming that cholinergic stimulation was taking place, whereas the addition of PZP to PD induced a significant attenuation of these responses. It is concluded that cholinergic pathways have a inhibitory role in ACTH secretion in man. M1 muscarinic receptors seem to be involved in the diurnal inhibition of PD, whereas our observations are consistent with the mediation of another type of cholinergic receptors as an explanation for the nocturnal effect of PD on ACTH secretion. PD did not alter the circadian variation in the hypothalamic-pituitary-adrenal axis, whereas the association of PD and PZP increased the differences between diurnal and nocturnal ACTH values, suggesting a modulatory effect of the cholinergic system on the circadian rhythm of ACTH secretion.

[Study of the growth and final body height in a young adult population]. / Estudio del crecimiento final en una población de adultos jóvenes.

To know the final height of young adults in our environment, we obtained a control group with 340 students of medical and professional training and compared them with the patterns of Hernandez et al. Medium values of weight, height, weight/height rate, and tricipital and subscapular skinfolds are similar in both groups. If we separate them by birth year (1965-1966 and 1970-71), we find significant differences, on behalf of the younger group, in women for weight and weight/height rate (p < 0.05), and in both sexes for skinfolds (p < 0.001). If we separate them by oriing (medicine-professional training), we find significant differences, on behalf of male university students in weight and weight/height rate (p < 0.05) and of female professional students in skinfolds (p < 0.001). We verify the suitability of the tables of Hernandez et al. for the final growth of young people around us and justify their use in the daily practise.

[Hypothyroidism caused by isolated TSH deficiency]. / Hypothyroïdie par déficit isolé en T.S.H.

Hypothyroidism secondary to isolated thyrotropin (TSH) deficiency was confirmed by low TSH levels during TRF test. Other anterior pituitary hormones were normal. Replacement therapy with thyroxine improved the child's growth but not the intellectual ability. The diagnostic difficulties and the importance of early treatment are emphasised.

[Secondary carbohydrate intolerance. Evolutive follow-up (author's transl)]. / Intolerancia secundaria a hidratos de carbono. Control evolutivo.

This study reports 70 children suffering from malabsorption and/or carbohydrate intolerance followed for at least twelve months. Mono and dysaccharide overload curves are considered as very valuable tests together with the clinical signs. These must be carefully observed during the tests and after supression of the malabsorbed sugar. Reliability of the overload tests in the follow-up is pointed out. Variations in the normalization time of the curves for each carbohydrate are determined. Finally 90 min. is considered as an advisable end-point for overload tests.

[Growth rate and bone maturation in celiac disease (author's transl)]. / Evolución del crecimiento somático y maduración ósea en la enfermedad celíaca.

The growth and bone maturation of 43 celiac patients were analyzed. A significant correlation between gluten intake and growth rate was found. The authors suggest this is a good parameter to advise the best moment to make the control biopsie and the provocation test.