Osteoporosis grave secundaria a enfermedad de Gaucher: reporte de caso / Severe osteoporosis secondary to Gaucher disease: case report

La enfermedad de Gaucher (EG) es un trastorno genético lisosomal autosómico recesivo infrecuente, que conduce a la acumulación de lípidos y disfunción en múltiples órganos. La afectación del esqueleto es uno de los hallazgos más frecuentes de la EG y una de las principales causas de dolor y reducción de calidad de vida. El compromiso esquelético incluye anomalías en el remodelado óseo con pérdida mineral ósea, adelgazamiento cortical, lesiones líticas, fracturas por fragilidad y deformidades articulares. A continuación presentamos el caso de una paciente 61 años con osteoporosis grave secundaria a EG diagnosticada en la vida adulta, con antecedente de dos hermanas con EG. La paciente refería dolores óseos y lumbago crónico desde los 53 años. El 2012 fue evaluada en policlínico de hematología por trombocitopenia y debido a sus antecedentes familiares se le solicitaron exámenes que fueron compatibles con EG. El año 2016 la densitometría ósea (DXA) de columna lumbar y cuello femoral izquierdo, que mostró una osteoporosis. Se inició tratamiento con Alendronato, Calcio y Vitamina D, pero la paciente tuvo escasa adherencia. El 2018 se inició tratamiento de su EG con Taliglucerasa α. Al año siguiente se le realizó nueva DXA que evidenció persistencia de la osteoporosis y por mantención del lumbago se le solicitó una TAC de columna lumbar que mostró fracturas por aplastamiento de cuerpos vertebrales dorsales bajos. Se derivó a endocrinología para manejo de su osteoporosis grave. A su ingreso a endocrinología la paciente persitía con dolor lumbar alto y destacaba una marcada cifosis. Se decidió retomar tratamiento con Alendronato, calcio y vitamina D, además, se le solicitó una nueva evaluación densitométrica junto a una radiografía de columna total y evaluación dental. Durante el seguimiento la paciente mantuvo niveles de vitamina D adecuados con funciones renal, hepática y tiroidea normales.

Gaucher disease (GD) is a rare autosomal recessive lysosomal genetic disorder, leading to the accumulation and dysfunction of lipids in multiple organs. Skeletal involvement is one of the most prevalent aspects of GD and one of the main causes of pain and reduced quality of life. Abnormalities of bones, which cause changes in the development and loss of bone mineral, cortical thinning, lytic lesions,fragility fractures and deformities. We present a case of a patient diagnosed with severe osteoporosis, secondary to GD diagnosed in adult life. The patient presents a disease pattern composed of bone pain and chronic low back pain since the age of 53. In 2012, she was evaluated at the hematology for thrombocytopenia and due to her family history, tests were performed to diagnose GD, which were compatible with it. In 2016 Bone Densitometry (DXA) of the lumbar spine and left femoral neck was requested, being consistent with osteoporosis. Treatment with Alendronate, Calcium and Vitamin D was started, however, there is little adherence. In 2018, treatment for Gaucher's disease was started with Taliglucerase α. The following year, DXA was performed with few changes and a CT scan of the lumbar spine was performed diagnosing crush fractures of the low dorsal vertebral bodies. She was referred to endocrinology. Upon admission to Endocrinology, it was decided to resume initial osteoporosis treatment and to perform skeletal evaluation with DXA of the lumbar spine and hips, total spine X-ray and dental evaluation. During follow-up, it maintains vitamin D at adequate levels and normal kidney, liver and thyroid functions.

Telemedicina como herramienta de enseñanza de la endocrinología en estudiantes de medicina / Telemedicine as a teaching tool for endocrinology in medical students

INTRODUCCIÓN: El estudiante de medicina actualmente está inmerso en una sociedad altamente tecnologizada, dónde la telemedicina podría ser utilizada como un instrumento hacia un mayor aprendizaje. OBJETIVO: El objetivo del estudio es analizar el logro de competencias y el grado de satisfacción de los estudiantes medicina con la utilización de la telemedicina como estrategia didáctica en la enseñanza de la endocrinología. MATERIAL Y MÉTODO: Estudio preexperimental, correlacional, transversal y con medición posterior a la intervención. La muestra estuvo constituida por los 40 estudiantes de tercer año de medicina (24 hombres y 16 mujeres) que realizaron su práctica de endocrinología durante el segundo semestre del 2017. Se les evaluó los logros alcanzados en las competencias a través de una escala de apreciación y se midió el grado de satisfacción con la actividad docente a través de un cuestionario validado (α de Cronbach de 0,9565). RESULTADOS: El rendimiento de los estudiantes en el módulo de teleendocrinología al evaluar las competencias de analizar, sintetizar y presentar un caso clínico teleconsultado fue de 6,1 en una escala de 1 a 7, y no se encontraron diferencias según sexo. El 90% de los estudiantes consideró muy motivadora la metodología de enseñanza basada en la telemedicina y el 82,5% consideró que esta metodología favorece la integración de los contenidos. CONCLUSIONES: La telemedicina puede ser utilizada como una herramienta para evaluar competencias académicas de endocrinología en los estudiantes de pregrado de medicina, y que estos muestran un alto grado de satisfacción con este tipo de actividad docente.

INTRODUCTION: The medical student is currently immersed in a highly technological society, where telemedicine could be used as an instrument towards greater learning. OBJECTIVE: The objective of the study is to analyze the achievement of competences and the degree of satisfaction of medical students with the use of telemedicine as a didactic strategy in the teaching of endocrinology. MATERIAL AND METHOD: Pre-experimental, correlational, cross-sectional study and measurement after the intervention. The sample consisted of 40 third-year medical students (24 men and 16 women) who performed their endocrinology practice during the second semester of 2017. They were evaluated the achievements in the competences through a scale of appreciation and The degree of satisfaction with the teaching activity was measured through a validated questionnaire (Cronbach's de 0.9565). RESULTS: The performance of the students in the teleendocrinology module when evaluating the competences of analyzing, synthesizing and presenting a teleconsultated clinical case was 6.1 on a scale of 1 to 7, and no differences were found according to sex. 90% of the students considered the teaching methodology based on telemedicine very motivating and 82.5% considered that this methodology favors the integration of the contents. CONCLUSIONS: Telemedicine can be used as a tool to evaluate endocrinology academic competences in undergraduate medical students, and that they show a high degree of satisfaction with this type of teaching activity.

Masa pancreática: una presentación inhabitual de nesidioblastosis en el adulto / Pancreatic mass: an unusual presentation of nesidioblastosis in adults

A 41-year-old woman, multiparous of 4, with personal or familiar history of diabetes, with a history of Nissen fundoplication due to pathological gastro-oesophageal reflux, is refer to an endocrinologjst during her post-operatiye follow up, 4 months after her surgery for a 14 kg weight loss in 10 months and symtomatic hypoglycemia to repetition. A positive prolonged fasting test for hypoglycemia was performed. In addition, abdominal computed axial tomography was performed, which resulted normal and endosonography, showing a lesion on the head of the pancreas. Octreoscan positive for pancreatic head focal lesion with positive somatostatin receptors compatible with insulinoma. Whipple surgery was performed where surgeon palpated pancreatic tumor, biopsy showed tissue compatible with diffuse nesidioblastosis. In the postoperative period, the patient decreased frequency and intensity of hypoglycemic episodes compared to their previous stage. Control prolonged fasting test and Octreoscan were within normal ranges. However, 4 months after surgery, the patient presented hypoglycemia of lower intensity and frequency than before surgery. Currently he remains in control with nutritionist and endocrinologist, mainly adjusting diet and with good control glycemias.

Influencia de la polución ambiental en la incidencia de fractura de cuello femoral / Influence of enviromental pollution on the femoral neck fracture incidence

It has been shown that there is an association between air pollution and cardiovascular mortality. In bone pathology, studies show that air pollution is associated with a risk of developing osteoporosis and osteoporotic fracture associated with MP2.5 and nitrogen dioxide (NO2 ). The aim of our study was to determine whether or not there is an association between air pollution and osteoporotic disease, associating the incidence of femoral neck fracture in individuals aged 50 years or more and the contamination present in the several cities. Our results showed no statistically significant association between air pollution, evaluated using PM10 and PM2.5 as indicators, and the average annual incidence of osteoporotic hip fracture, comparing the most polluted cities and the less polluted cities of Chile

Efecto del tratamiento prolongado con metformina sobre la densidad mineral ósea en las mujeres postmenopáusicas con diabetes tipo 2 / Effect of long term metformin treatment on bone mineral density in postmenopausal women with type 2 diabetes

The aim of this study was to determine whether there is a relationship between prolonged use of metformine on bone mineral density, comparing a group of patients receiving prolonged treatment with metformine and a control group with similar characteristics biodemographic. Material and Methods: A case-control study was conducted in a population of 225 postmenopausal women between 51 and 62 years of age, were divided into 2 groups, one of type 2 diabetic patients treated with 1,000-2,000 mg. of metformine for at least 5 years (n = 75) and they had an acceptable metabolic control (HbA1c < 7.5 percent), and a control group of non diabetic women (n = 150). BMD at the lumbar spine (L1-L4) and both hips were measured with DEXA. Results: The group of type 2 diabetes treated with metfornine was associated with a significantly increased bone mineral density at the lumbar spine compared with the control group (L1-L4 g/cm2 1.07 +/- 0.15 vs 0.16 +/- 0.975) (L1-L4 T score-0.68 +/- 1.06 vs -1.73 +/- 1,07) (p = 0.05).Conclusion: Prolonged therapy metformine could have an effect on the preservation of bone mineral density at the lumbar spine in women with diabetes type 2, suggesting an effect of metfornine osteoprotective in trabecular bone.

Genotipificación y resistencia antibacteriana de cepas de Campylobacter spp aisladas en niños y en aves de corral / Genotyping and antibacterial resistance of Campylobacter spp strains isolated in children and in free range poultry

Poultry is a main reservoir and source of human infection in campylobacteriosis. Three hundred and forty one stool samples (291 human, 50 avian) were analyzed. In the human group, 220 samples were collected from children with acute diarrheal disease (183 inpatients, 37 outpatients) and 71 from healthy children. Erythromycin and ciprofloxacin agar dilution MIC tests, Penner serotyping and RAPD-PCR genotyping were performed on 23 strains isolated. C. jejuni was reported only in patients with acute diarrhea (5.4 percent inpatients, 2.2 percent outpatients). Campylobacter prevalence in poultry was 34 percent. Cross-resistance to nalidixic acid and ciprofloxacin was found in 33.3 percent of human samples and 11.8 percent of animal samples. Human samples could not be typed using the Penner method. F serotype was the most expressed in poultry. We obtained a total of 14 genotypes (4 / 5 human and 10/15 avian). In conclusion, the predominant species in poultry and humans was C. jejuni, a significant amount of quinolone-resistant human and avian samples were obtained, and avian genotypes and serotypes were not found in human samples. The latter would mean that another source of infection could exist; therefore other reservoirs must be studied.

Las aves de consumo constituyen uno de los principales reservorios y fuente de infección humana de la campilo-bacteriosis. Se analizaron 341 muestras de deposiciones, 291 humanas y 50 aviares. De las muestras, 220 de niños con síndrome diarreico agudo-SDA (183 hospitalizados y 37 consultantes ambulatorios) y 71 niños sanos. A las 23 cepas obtenidas se les realizó CIM por dilución en agar a eritromicina y ciprofloxacina, serotipificación de Penner y genotipiicación por RAPD-PCR. Se encontró Campylobacterjejuni sólo en pacientes con SDA, de ellos 5,4 por ciento ambulatorios y 2,2 por ciento hospitalizados. En aves, la prevalencia de Campylobacter spp., fue de 34 por ciento. Hubo resistencia cruzada a ácido nalidixico y ciprofloxacina en 33,3 por ciento cepas de origen humano y 11,8 por ciento animal. Las cepas humanas fueron no tipiicables por el método de Penner. Predominó entre las aves el serotipo F. Se obtuvo un total de 14 genotipos (4/5 humanos y 10/15 aviares). En conclusión, la especie predominante en aves de corral y en humanos fue C. jejuni, existiendo una alta prevalencia de cepas de origen humano y aviar resistentes a quinolonas. Los genotipos y serotipos aviares no fueron encontrados en cepas de origen humano, lo que indica que podría existir otra fuente de infección, por lo que se requiere estudiar otros reservorios.

Osteopoiquilia: comunicación de un caso clínico / Osteopoikilosis: report of one case

Osteopoikilosis is an infrequent sclerotic bone dysplasia with discrete spherical areas of increased bone density. It has an autosomal, dominant inheritance with variable penetrance. It a diagnosed by the observation of characteristic images on x-ray films. Despite its lack of pathological importance, it must be distinguished from osteoblastic bone metastases, tuberose sclerosis, mastocytosis or sarcoidosis. We report a 23 years old male who presented a right ankle sprain. X-ray films showed important lesions in the trabecular bone of the tarsus, metatarsus and phalanges, as numerous small foci of osteosclerosis. The study was complemented with a pelvis, femur and a hand radiological study with similar findings. These findings led to the diagnosis of osteopoikilosis. Among his family members, x-ray films showed that the mother also carried the disease.

Polimorfismos del gen del receptor de vitamina D y riesgo de fractura de cadera en la mujer adulta mayor de la Región del Bío Bío / Vitamin D receptor gene polymorphisms and risk of hip fracture in Chilean elderly women

Background: Osteoporotic hip fractures are devastating events in older women. There is a genetic modulation of bone phenotypic parameters including bone density (BMD) and bone fragility fractures. Vitamin D receptor (VDR) gene polymorphisms explain a small part of the genetic influence on BMD, whereas their effect on fractures remains uncertain. Aim: To examine the contributions of VDR genotypes to the susceptibility to hip fracture in elderly Chilean women. Patients and methods: We recruited 126 women (67 with fractures and 59 without) from Bio-Bio Region, Chile, aged 65 to 94 years. Genotyping for Bsm-l, Apa-1, Taq-1 and Fok-1 VDR polymorphisms was performed using polymerase chain reaction methods. All hip fractures were confirmed by X-ray. Results: The alíele frequencies were 0.49 for B, 0.57 for A, 0.60 for T and 0.65 for F in the Bsm-l, Apa-1, Taq-1 and Fok-1 polymorphisms respectively. The prevalence of these VDR gene polymorphisms in women with fractures were 16 percent BB, 69 percent Bb, 15 percent bb for Bsm-l; 30 percent AA, 46 percent Aa, 14 percent aa for Apa-1; 17 percent TT, 34 Tt, 8 percent tt for Taq-1 and 43 percentFF, 41 percent Ff, 16 percent ff for Fok-1. All VDR genotype frequencies did not differ from Hardy- Weinberg expectations. Alíele or genotype frequencies did not differ between women with or without fractures. These results did not change when analysis was adjusted by age weight, height or gynecologic history. Conclusions: The genotype frequencies of the VDR polymorphisms are in accordance with the frequencies of other Hispanic and Caucasian populations. Our results suggest that VDR polymorphisms are not associated with the risk of hip fracture in older women of this Region of Southern Chile.

Características reproductivas de las mujeres consultantes en servicios de urgencia general de la VIII Región / Reproductive history of women consulting in emergency services in a southern region of Chile

Background: The occurrence and timing of menstrual and reproductive events such as menarche, regularity of menses, births, maternal breastfeeding and menopause play an important role in a woman's life. Aim: To study the variability of reproductive live from menarche to menopause in different age groups in Chilean Caucasian and Mapuche aborigine females in a southern location of Chile. Subjects and Methods: A questionnaire about reproductive history was answered by 502 women consulting in six general emergency rooms of different public hospitals of the 8th region of Chile, between May and September 2002. Results: The median age at menarche was 12.8 years among adolescents and 13.7 years among older women (p <0.001). Fecundity rate was 5.2, 3.9 and 1.8 among older women, adults and young adults, respectively. Forty seven percent of adolescent had at least one child. The median age for natural menopause was 47 years. Eighty one percent of older women and 65% of adult women had given breastfeeding for more than six months. No statistical differences in reproductive characteristics were observed between Chilean Caucasians and Mapuche aborigines. Conclusions: Among these women, the age of menarche in younger women is similar to that of women from industrialized countries. Fecundity has been progressively decreasing. Menopause tends to occur sooner than in other geographical regions, probably due to the high number of surgical sterilizations in our population. Adolescent pregnancy still is a problem.

Enfermedad de von Willebrand como manifestación clínica inhabitual del hipotiroidismo primario: Caso clínico / Acquired von Willebrand disease as an unusual manifestation of primary hypothyroidism: Report of two cases

Patients with hypothyroidism may have a minor increase in their bleeding tendency, causing easy bruising and menorrhagia. There is a positive correlation between factor VIII coagulant activity and thyroxin serum levels. Thus, patients with hypothyroidism have an acquired coagulation defect that is reversible with thyroxin supplementation. We report two sisters, aged 13 and 11 years, who met the criteria for von Willebrand's disease at the age of eight. Both sisters had a primary hypothyroidism due to Hashimoto's thyroiditis, diagnosed three years later. Thyroid hormone replacement normalized von Willebrand factor, factor VIII, and the bleeding diathesis disappeared. Acquired von Willebrand's disease is an unusual manifestation of hypothyroidism. However the possibility of hypothyroidism should be considered in patients presenting with von Willebrand disease.

Adenoma hipofisiario productor de somatotrofina en una paciente con antecedente de struma ovarii carcinoide / Somatotropic pituitary tumor in a patient with a previous ovarian strumal carcinoid: report of one case

Strumal carcinoid is an unusual form of monodermal ovarian teratoma with thyroid-like follicles mixed with typical carcinoid tumor patterns. We report a 49 years old woman presenting with an acromegaly. At the age of 45, an ovarian strumal carcinoid was excised and at three years of follow up, she complained of finger and feet growth. Laboratory showed an elevated serum IGF-1 and a sella turcica magnetic resonance imaging showed an 8 mm microadenoma. She was subjected to a transphenoidal excision and the pathological study disclosed a solid acidophilic pituitary adenoma. Two months after surgery, there was a significant decrease in serum IGT-I levels.

Síndrome de Poems: caso clínico / Poems syndrome: report of one case

Poems syndrome (polyneuropathy, organomegaly, endocrine abnormality, M-protein, plasma cell dyscrasia, and skin lesions) is a plasma cell dyscrasia whose pathogenesis is unknown. We report a 60 years old woman that presented a tetraparesis caused by a sensitive motor polyneuropathy. The subsequent work up revealed an IgA type monoclonal gammopathy, hepatomegaly, hyperestrogenism, primary adrenal failure, hypothyroidism, hyperpigmentation and erythematous lesions in the skin and ankle edema. The patient is being treated with prednisone 0.5 mg/kg and levothyroxine 100 Ág/day, with partial remission of her symptoms.