Reporte de Caso. Epidermolisis Bullosa distrófica hereditaria en gemelas. Medellín, Colombia / Case Report. Hereditary dystrophic Epidermolysis Bullosa in newborn twins. Medellín, Colombia

Resumen: Este es un caso de dos pacientes femeninas fruto de un embarazo gemelar bicorial y biamniótico, con diagnóstico de epidermólisis bullosa congénita tipo distrófica, que se confirmó genéticamente con la mutación patogénica en el gen COL7A, una variante previamente no reportada y también llamada la variante Hallopeau-Siemens. Las pacientes fueron manejadas por un grupo médico interdisciplinario, enfocando el manejo en prevenir la aparición de nuevas lesiones y complicaciones, y en el manejo del dolor. Debido a la gravedad de las lesiones y las complicaciones asociadas, una de los pacientes murió. La otra está viva a los 8 meses de edad, sin complicaciones graves y con buen estado nutricional. En estos pacientes el tratamiento de las lesiones cutáneas es el pilar del manejo para reducir la morbimortalidad. El objetivo principal de este texto es proporcionar información para que los profesionales de la salud conozcan la enfermedad, pueda ser diagnosticada oportunamente y así brindar un tratamiento de apoyo a los pacientes y sus familias; y sensibilizar sobre una de las enfermedades clasificadas como huérfanas o raras en nuestro país.

Abstract: We present the case of two female patients from a dichorionic diamniotic twin pregnancy with diagnosis of congenital dystrophic epidermolysis bullosa at Clinica Universitaria Bolivariana, Medellín, Colombia. Molecular genetic testing confirmed a pathogenic mutation in the gene COL7A, a variant previously not reported and also called the Hallopeau-Siemens variant. Patients were followed by an interdisciplinary medical team focusing on prevention of new lesions, complications, and pain management. Because of the severity of the lesions and associated complications one of the patients died, the other one is 8-months-old without severe complications and well nutritional status. In these patients, treatment of skin lesions is the mainstay to reduce morbidity and mortality. The main purpose of this report is to provide information so that health professionals know the disease and it can be diagnosed opportunely and thus provide supportive treatment to patients and their families; and also sensitize health providers about one of the diseases listed as orphan or rare in our country.

[Compliance rate of antibiotic therapy in patients with acute pharyngitis is very low, mainly when thrice-daily antibiotics are given]. / El cumplimiento del tratamiento antibiótico en la faringitis aguda es muy bajo, principalmente con antibióticos que se toman tres veces al día.

OBJECTIVE: To assess drug-compliance observed among patients with suspected streptococcal pharyngitis treated with twice-daily antibiotic regimens (b.i.d.) and others with thrice-daily regimens (t.i.d.). METHODS: A prospective study in the primary care setting was designed in which patients with pharyngitis and three or more Centor criteria, non-allergic to beta-lactam agents, treated with several b.i.d and t.i.d antibiotic regimens based on doctor's choice, were recruited. Patient compliance was assessed with electronic monitoring. RESULTS: A total of 113 patients were enrolled (64 in the t.i.d. group and 49 in the b.i.d. group). Mean openings ranged from 70.3 to 83.3% of the total amount of pills. All the parameters analysed indicated significantly worse compliance with the t.i.d. regimens. Eleven patients allocated to the t.i.d. group took at least 80% of the pills (17.2%), this being significantly lower than those who received b.i.d. antibiotics (59.2%; p < 0.001). The percentage of patients who opened the Medication Event Monitoring System (MEMS) container the satisfactory number of times a day was systematically lower among t.i.d. regimens, this being statistically significant from day three (p < 0.05). Patients assigned to t.i.d. regimens more frequently forgot the afternoon dose. CONCLUSION: Compliance rate was very low, mainly when patients are given t.i.d antibiotic regimens. This may lead to storage of antibiotics and subsequent self-medication. New strategies addressed to improve drug-compliance with antibiotics among outpatients are therefore necessary.

[Study of the introduction of the European Credit Transfer System (ECTS) in pediatrics and modification of the teaching methodology]. / Estudio sobre la introducción del Sistema de Transferencia de Créditos Europeo en Pediatría y modificaciones de la metodología docente.

INTRODUCTION: Spanish medical faculties have initiated the new curriculum reform process within the framework of the European Higher Education Area and are required to incorporate the European Credit Transfer System (ECTS) to new syllabi before 2010. OBJECTIVES: To test the introduction of the ECTS in pediatrics and modify the teaching methodology. STUDY DESIGN: The theoretical and practical programs were adapted; academic objectives and a student evaluation system were established. Students were surveyed on starting the second term of the 2004-05 academic year before the theory examination and again on terminating the academic year: a 5-point Likert-type scale was used for responses. Priorities for generic and specific competencies selected by students were compared with those selected by the National Deans Conference (NDC). The results were analyzed using non-parametric tests. RESULTS: Fifteen credits became 11 ECTS, with 297 student working hours. The theory program was reduced from 80 to 52 lessons. The students prepared 14 tutor-supervised case presentations. The teaching staff considered that learning of theory was similar to previous years (66 %) and that practical learning improved (73.3 %). The students thought the program should continue (73.2 %) but 98.8 % considered the workload excessive. The students believed that their practical training and their ability to prepare and make case presentations significantly improved during the semester. Academic performance was significantly higher than that in students of the previous year. Students agreed with NDC priorities for 9/9 general and 4/17 specific competencies. Estimation of workload by students was significantly higher than that by staff, and 73.3 % of the students believed that workload should be reduced and the examination system improved. CONCLUSIONS: Introducing the ECTS improved academic performance, practical training, and self-directed learning. The project was satisfactory for staff and students. Student workload was underestimated.

[Neonatal morbidity and mortality according to intrauterine growth pattern]. / Morbilidad y mortalidad de los recién nacidos según el patrón de crecimiento intrauterino.

OBJECTIVE: To evaluate the influence of intrauterine growth on neonatal morbidity and mortality in live neonates born in a regional tertiary care center. PATIENTS AND METHODS: A retrospective cohort study was performed. Data from 12,311 live neonates (LN) born in our hospital (from January 1999 to December 2003) were reviewed to analyze neonatal morbidity and mortality according to whether the LN were appropriate (AGA), small (SGA) or large (LGA) for gestational age. The variables collected from birth to hospital discharge were: gestational abnormalities, gender, delivery type, Apgar score, respiratory distress, presentation of obstetric trauma (including cephalohematomas), hypoglycemia, hypocalcemia, hyperbilirubinemia, congenital malformations, heart disease, and type of hospital discharge. Differences were examined among groups. We used the chi-squared test to compare the frequency of these variables in each group. RESULTS: Data from 12,311 LN were entered into the database; 11,182 (90.8%) were AGA, 743 (6.1%) were LGA and 386 (3.1%) were SGA. There were 52.58% boys and 47.42% girls, and 5.5% of LN had macrosomia (birth weight > 4,000 g). A total of 0.39% of LN died before hospital discharge. Among LN, there were 1,215 preterm infants, representing 9.89% of all LN and 2.63% died (SGA 25% and AGA 75%). There was a prevalence of boys in the LGA group and of girls in the SGA group (p = 0.000). The presence of maternal diabetes (pregestational or gestational) was significantly higher (p = 0.000) in the LGA group. Maternal hypertension, smoking and drug addiction were significantly higher in the SGA group. The finding of obstetric trauma was significantly higher in the LGA group (p = 0.000). The proportion of congenital malformations, hypocalcemia and hypoglycemia was higher in the SGA group than in the AGA and LGA groups (p = 0.000). Neonatal mortality was significantly higher (p = 0.000) in the SGA group and preterm infants. CONCLUSIONS: Neonates with deviations in the pattern of intra-uterine growth had worse outcome. Prognosis was worse in SGA neonates, followed by LGA neonates, than in AGA neonates.

[Influence of growth hormone (GH) and nutrition on neonatal growth]. / Influencia de la GH y de la nutrición sobre el crecimiento en el periodo neonatal.

OBJECTIVE: At present, growth regulating factors in the transition from fetal to postnatal life remain unknown. The purpose of this study was to analyze the influence of GH and nutrition on neonatal growth. PATIENTS AND METHODS: Serum and 24-hour urine GH levels, various anthopometric variables and daily energy and nutrient intake were measured in appropriate (AGA), large (LGA) and small for gestational age (SGA) newborn infants. These variables were measured at 1 (n = 98), 3 (n = 41) and 5 weeks of postnatal age (n = 8). RESULTS: The highest GH levels at the 1st week of postnatal life were obtained in preterm SGA infants (GHs: 61.4 +/- 20.0 microUI/m; GHu: 18.6 +/- 10.3 ng/kg/24 h). GH levels decreased in preterm infants, so that differences between groups failed to be significant at the third and fifth weeks of postnatal life. Urinary GH excretion did not show significant variations in the control group during the study (1st wk 3.0 +/- 3.5; 3rd wk 2.3 +/- 2.7; 5th wk 3.2 +/- 4.7 ng/kg/24 h). Daily protein intake had a direct relationship with both triceps skinfold and weight and head perimeter increase. SGA preterm infants showed a higher fat increase compared to AGA preterm infants. Serum and urinary GH levels were not related to the anthopometric variables studied. CONCLUSIONS: There are differences in GH secretion and body composition between SGA and AGA preterm infants. GH probably does not contribute to neonatal growth.

[Edema, a manifestation of digestive tract disease]. / Edema, una manifestación de sufrimiento del tubo digestivo.

The development of generalized edema is the consequence of a decreased level of proteins in the plasma, due to a deficient intake or exaggerated loss. The gastrointestinal system may cause this deficiency at three different levels. We report three clinical cases of protein losing enteropathy at different locations, such as: giant hypertrophy of the gastric mucosa, intestinal lymphangiectasia and Crohn's disease. In each case we tried to demonstrate the sites that could mainly be affected in the gastrointestinal system and taking into consideration that these are rare entities, we made a brief description of them.

[Short stature and nephrogenic diabetes insipidus. Report of a clinical case]. / Talla baja y diabétes insípida nefrogénica. Reporte de un caso clínico.

A male child who was initially studied as a short stature syndrome, was found to have a severe picture of polyuria-polydipsia. The routine tests for dehydration and vasopressin administration were carried out and the results obtained were fully demonstrative of a lack of renal response to the administration of vasopressin.

[Engelmann-Camurati's disease. Report of a clinical case and its evolution during 4 years]. / Enfermedad Engelmann-Camurati. Reporte de un caso clínico y su evolución durante 4 años.

Engelmann-Camurati's diseases is a progressive alteration of the diaphysis of the long bones, where the etiology is unknown. It appears clinically around the age of two years, showing weakness of the lower limbs and frequent falls; there is also weight loss and in older patients, the appearance of secondary sexual characteristics is retarded. The diagnosis is made clinically and corroborated with x-ray studies that show increased density and width of the diaphysis. We report a case in a female where the diagnosis was established at twelve years of age; she received steroid therapy for four years without improvement. The mechanism of action of the steroids is unknown, but it seems that they stimulate the formation of healthy bone with adequate remodelling. Physiotherapy is necessary in these patients and if there should be a compression of the cranial nerves, surgical management may be useful to relieve compression.