Kallmann Syndrome. Case presentation

Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism and anosmia. It affects one of every 10 000 and 50 000 women. It is presented a case of a patient who came to the endocrinology service at the General University Hospital Dr. Gustavo Aldereguía Lima. Cienfuegos, due to pubertal delay and olfactory disorders, characteristics which belong to this syndrome. A cytogenetic hormonal study (FSH; LH, testosterone) was developed, a nuclear MRI of the skull and silla turca in which it was confirmed agenesis of the right olfactory bulb and hypoplastic of the left one. The presentation of the case was decided due to the importance of making an early diagnosis to start substituting hormonal treatment adequately, improve the pubertal growth spurt and bone mineralization, increase muscular mass, so as to avoid psychological disturbances in adolescents with pubertal delay

Manejo práctico del paciente con diabetes mellitus en la Atención Primaria de Salud

La diabetes mellitus es una enfermedad de primera importancia a nivel de salud pública en todo el mundo, por ser una de las enfermedades no transmisibles más frecuentes, y por la severidad y diversidad de sus complicaciones crónicas. Se realiza una revisión actualizada sobre el manejo de las personas con diabetes mellitus. Incluye definición, diagnóstico y clasificación, algoritmo para el pesquisaje de la enfermedad, conducta ante una persona con diabetes mellitus en la Atención Primaria de Salud, pilares de tratamiento y metas de control metabólico. Tiene como objetivo exponer elementos prácticos para el abordaje del paciente con diabetes mellitus tipo.</p

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Evaluation of the medical assistance to asthmatic patients.

<strong>Fundament:</strong> The evaluation and perfeccioning of assistance quality in Health services are objectives of permanent interest. Bronquial asthma is a high frequency desease, and it requires an evaluated attention. <strong>Objective:</strong> to evaluate the medical attention to the asthmatic patient in the Area III polyclinic of Cienfuegos. <strong>Methods:</strong> Transversal and descriptive study that included 150 patients randomly selected from the dispensary records of the Area III Educational Polyclinic of Cienfuegos, in December 2001. Medical records were checked and the patients were interviewed. <strong>Results:</strong> differences were found among the classifications (light, persistent and moderate) reflected in medical records and the evaluation the authors made. Only 12 % of the Medical Records had good quality. The 80 % of patients have adequate knowledge about their desease, but most of them do not follow inter-crisis treatment. The place more used for treatment of the crisis was the polyclinic. There is a high level of satisfaction with medical services. <strong>Conclusion: </strong>The medical care of patient with bronchial asthma can be improved, being more systematic in inter-crisis treatment based on previous evaluation of each patient and in the sequential use of different therapeutic options, particularly in the practice of correct life styles

Kallmann Syndrome. Case presentation

Kallmann syndrome is characterized by the association of hypogonadotropic hypogonadism and anosmia. It affects one of every 10 000 and 50 000 women. It is presented a case of a patient who came to the endocrinology service at the General University Hospital Dr. Gustavo Aldereguía Lima. Cienfuegos, due to pubertal delay and olfactory disorders, characteristics which belong to this syndrome. A cytogenetic hormonal study (FSH; LH, testosterone) was developed, a nuclear MRI of the skull and silla turca in which it was confirmed agenesis of the right olfactory bulb and hypoplastic of the left one. The presentation of the case was decided due to the importance of making an early diagnosis to start substituting hormonal treatment adequately, improve the pubertal growth spurt and bone mineralization, increase muscular mass, so as to avoid psychological disturbances in adolescents with pubertal delay

Hypertriglyceridemic Waist Phenotype in Adolescents Aged 15 to 18 Years

Background: presence of the hypertriglyceridemic waist phenotype is a predictor of cardiometabolic deterioration, increased type 2 diabetes mellitus and coronary heart disease. Objective: to determine the hypertriglyceridemic waist phenotype in adolescents aged 15 to 18 years from the Area III of Cienfuegos. Method: a case series study was conducted in a universe of 198 adolescents aged 15 to 18 years who attended a consultation created for this study at the Octavio de la Concepción y de la Pedraja University Polyclinic in Cienfuegos municipality from March to December 2013. Each patient completed a questionnaire including the following variables: age, sex, personal medical history, family medical history, weight, height, body mass index, presence of acanthosis nigricans, triglycerides and perimeter. Results: frequency of the phenotype was determined in 15.1 % of the participants with a slight predominance of the 18 age group (16.3 %) and female sex (8.6 %). Twenty-one point six percent of the adolescents with a family history of obesity and 21.7 % of those with first-degree diabetic relatives presented the phenotype, being hypertriglyceridemia the most significant condition. Conclusions: a relationship between a family history of diabetes mellitus, obesity, body mass index above the 90th percentile value and presence of the phenotype was established

Manejo práctico del paciente con diabetes mellitus en la Atención Primaria de Salud

La diabetes mellitus es una enfermedad de primera importancia a nivel de salud pública en todo el mundo, por ser una de las enfermedades no transmisibles más frecuentes, y por la severidad y diversidad de sus complicaciones crónicas. Se realiza una revisión actualizada sobre el manejo de las personas con diabetes mellitus. Incluye definición, diagnóstico y clasificación, algoritmo para el pesquisaje de la enfermedad, conducta ante una persona con diabetes mellitus en la Atención Primaria de Salud, pilares de tratamiento y metas de control metabólico. Tiene como objetivo exponer elementos prácticos para el abordaje del paciente con diabetes mellitus tipo.</p