[Finding of a new mutation in a Chilean family with monogenic diabetes. Report of one case]. / Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico.

We report a 21 years old woman, without offspring, with diabetes mellitus diagnosed at 17 years of age, without ketosis or weight loss. Her body mass index was 18 kg/m2. Her C peptide was normal (2.3 ng/ml) and diabetes mellitus type 1 autoantibodies were negative. A monogenic diabetes Maturity Onset Diabetes of the Young (MODY) was proposed. Her family study disclosed a diabetic father and a brother with altered fasting glucose levels. The University of Exeter score for MODY yielded a 75.5% probability of MODY2. In the genetic-molecular study of the glucokinase gene (MODY2), the patient had a mutation at position 1343 of exon 10, corresponding to a heterozygous substitution of guanine by adenine (1343 G >A). The same mutation was found in her father and brother. This mutation is different from those previously described in the literature. The described change determines that a glycine is replaced by aspartic at amino acid 448 of the enzyme (non-synonymous substitution). The diagnosis of MODY2 was therefore confirmed in the patient and her father. The mutation was inherited by paternal line.

Relationship between sleepiness and general health status.

One commonly used instrument for evaluating general health and functional status is the medical outcomes survey short form 36 (MOS). Scores obtained from this instrument are known to vary with chronic diseases and depression. However, the degree to which these health dimensions may be influenced by sleep quality or sleepiness is not well understood. A cross-sectional study was performed on the association between general health status, as determined by the MOS, with sleepiness, assessed using a standardized questionnaire [the Epworth sleepiness scale (ESS)] and the multiple sleep latency test (MSLT). One hundred twenty-nine subjects (68 women), aged 25-65 years, without severe chronic medical or psychiatric illnesses, underwent an overnight sleep study, followed by an MSLT (consisting of a series of four attempts at napping at 2-hour intervals), and completed the MOS and the ESS. The mean MSLT score was 11 +/- 2 minutes, (range 2-20) and the mean ESS score was 10 +/- 5 (range 0-24). Scores for the MOS dimensions "general health perceptions", "energy/fatigue", and "role limitations due to emotional problems" were correlated significantly with ESS scores (r = -0.30, -0.41, and -0.30, respectively; p values were all < 0.001). The MSLT was also significantly correlated with "energy/fatigue" (r = -0.19; p < 0.05). After considering the effects of chronic illness and/or body mass index in a multiple hierarchical regression analysis, sleepiness, as assessed by the ESS score, explained 8% of the variance in general health perceptions, 17% of the variance in energy/fatigue, 6% of the variance in the summary measure of well-being, and 3% of the variance in the summary measure of functional status. The variation of MOS scores with sleepiness, unrelated to age or chronic disease, suggests that measures of general health status may be broadly influenced by sleepiness and sleep quality. These data suggest that 1) sleepiness has an important impact on general health and functional status, specifically influencing self-perceptions regarding energy/fatigue; 2) a more specific assessment of sleepiness in general health evaluations may help explain some of the observed variability in these measures across subjects; and 3) general health measures may be useful in the evaluations of patients with sleep disorders.

Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica: caso clínico / Finding of a new mutation in a Chilean family with monogenic diabetes: report of one case

We report a 21 years old woman, without offspring, with diabetes mellitus diagnosed at 17 years of age, without ketosis or weight loss. Her body mass index was 18 kg/m2. Her C peptide was normal (2.3 ng/ml) and diabetes mellitus type 1 autoantibodies were negative. A monogenic diabetes Maturity Onset Diabetes of the Young (MODY) was proposed. Her family study disclosed a diabetic father and a brother with altered fasting glucose levels. The University of Exeter score for MODY yielded a 75.5% probability of MODY2. In the genetic-molecular study of the glucokinase gene (MODY2), the patient had a mutation at position 1343 of exon 10, corresponding to a heterozygous substitution of guanine by adenine (1343 G >A). The same mutation was found in her father and brother. This mutation is different from those previously described in the literature. The described change determines that a glycine is replaced by aspartic at amino acid 448 of the enzyme (non-synonymous substitution). The diagnosis of MODY2 was therefore confirmed in the patient and her father. The mutation was inherited by paternal line.

Programa de transición: una intervención para adolescentes con diabetes tipo 1: estudio de casos y controles / Transition program: an intervention for adolescents with type 1 diabetes: cases and controls study

Introduction: The transition programs (TP) are planned interventions with specific aims which support type 1 diabetes adolescents in their process to emigrate from a pediatric care system to an adult care system. Objective: To evaluate the effectiveness of a TP in type 1 diabetes adolescents. Subjects and Method: This study was performed in 20 adolescents: 10 in TP and 10 controls (no TP) attended in an adult care system in a traditional way. The applied program included: coordination of attention dates, administrative supervision of the cases, and integral health team attention: physician every three months, psychologist with psychosocial follow-up every three months, nutricionist and university nurse according to the case necessities. After a year of the TP implementation the indicators of adherence were evaluated: continuity of care, regular medical appointments, physician/adolescent relationship, psychosocial follow-up, and to maintain or improve the HbA1c. The statistical analysis of variables comparison was performed with Kwallis Test o Mann-Whitney Test, in STATA 12.0 program. Results: At comparing groups, it was found that the intervened adolescents presented a major frequency of: continuity of diabetes care, regular medical appointments, physician/adolescent relationship and psychosocial follow-up (p < 0,01); the indicator of maintaining or improving the HbA1c was better in the patients with TP (60 percent vs 30 percent) yet not significant. Conclusion: In type 1 diabetes adolescents, with the applied TP we get better indicators of adherence to the diabetes treatment

Quiste hidatídico pulmonar roto en un escolar de Calama / Ruptured hydatid cyst in a schoolchild from Calama

La hidatidosis es una zoonosis cuya frecuencia en Chile varía según el área geográfica. El desierto de Atacama tiene características que hacen raro el desarrollo de esta patología, que a la vez, se presenta con características particulares en la infancia. Reportamos la evolución clínica de una escolar de Calama, de 6 años de edad, que presentó compromiso del estado general, fiebre, y anorexia de 5 días de evolución, a lo que se agregó tos persistente con episodios asficticos y vómica de material blanco grisáceo, hemoptoico y filante, sin mal olor, asociado a dolor punzante en hemitórax derecho y dificultad respiratoria progresiva. La radiografía de torax y TAC pulmonar muestran imagen compatible con quiste hidatídico basal derecho y la serología ELISA para hidatidosis resultó (+). Se trató con albendazol por 17 días y se realizó quistectomía con capitonaje, sin complicaciones posteriores. Comentamos la forma de presentación, los factores de riesgo y el tratamiento de la patología, basados en una revisión de la literatura y la experiencia nacional.

Subtipos no clásicos de diabetes mellitus / Non classical subtypes of diabetes mellitus

Background: Some adult, obese and diabetic patients, initiate their disease with a severe diabetic ketoacidosis without a precipitating factor and do not require insulin thereafter. These patients are classified as having a non classical diabetes mellitus. Aim: To study the clinical, immunological, genetic and metabolic features of patients with non classical diabetes mellitus. Patients and methods: Ten patients (9 men, aged 45ñ12 years old) with non classical diabetes mellitus were studied. Anti islet and anti glutamic acid decarboxylase antibodies (ICA and anti GAD), HLA DQ a arginine 52 and non aspartic ß57 were measured. Insulin secretion was measured by C peptide after glucagon injection and with the minimal model of Bergman. The latter model was also used to determine insulin sensitivity. Results: Three patients were immunologically classified as type 1, since they had positive ICA or antiGAD antibodies and type 1 genetics (neutral or susceptible HLA DQ a and ß). They had insulin secretion after glucagon stimulus (C peptide ranging from 2.2 to 7.5 pmol/ml), but an almost absent response to a glucose load. They were also insulin resistant (a sensitivity index ranging from 0.05 to 1.67 x 10-4 min/µU x ml). These three cases could be categorized as latent type 1. The other seven patients were ICA negative and antiGAD negative. Five had a susceptible HLA genotype for type 1 diabetes and two were neutral. All had insulin secretion after glucagon stimulation and a variable response to glucose. Six were insulin resistant (sensitivity index ranging from 0.32 to 1.29 x 10-4 min/µU x ml). One patient was insulin sensitive (sensitivity index of 3.83 x 10-4 min/µU x ml). Therefore all these patients were classified as type two diabetics with an atypical debut. Conclusions: Not all diabetics presenting with a severe diabetic ketoacidosis are type I. Among these, there are subjects with a latent type 1 diabetes or with an atypical type 2 diabetes

Manejo diferencial de la rotura prematura de membranas en embarazos de término: estudio clínico prospectivo controlado / Differencial management of the premature rupture of membranes in pregnancy: controlled prospective clinic study

Demostrar que el manejo diferencial de las pacientes con rotura prematura de las membranas (RPM) de término, basado en la evaluación ecográfica del volumen de líquido amniótico, logra disminuir el índice de cesáreas sin incrementar la morbilidad infecciosa. Se estudió a 94 pacientes con RPM de término. En presencia de oligoamnios se realizó inducción al ingreso; las pacientes sin oligoamnios fueron manejadas expectantemente hasta por 72 horas. Se registró la tasa de cesáreas y la morbilidad infecciosa. Las tasas de estas 94 pacientes (grupo de estudio) se compararon con las de un grupo control retrospectivo manejado según criterio de inducción a las 12 horas de RPM. La tasa de cesáreas fue menor en el grupo de estudio que en el grupo control (10,6 vs 24 por ciento, respectivamente, p= 0,008). La tasa conjunta de infecciones maternas y neonatales fue menor en el grupo de estudio que en el grupo control 5,6 vs 9,0 por ciento), pero esta diferencia no fue estadísticamente significativa. El manejo diferencial de acuerdo a la presencia de oligoamnios, permite minimizar la frecuencia de cesáreas sin incrementar la morbilidad infecciosa en pacientes con RPM de término