Short stature is a clinical challenge in the daily practice of pediatric endocrinology, regarding the several technical, cultural and economic factors associated with its approach. This article intends to review the p...Short stature is a clinical challenge in the daily practice of pediatric endocrinology, regarding the several technical, cultural and economic factors associated with its approach. This article intends to review the physiology of growth hormone secretion, the endocrine regulation of human growth and the clinical aspects of the diagnosis and treatment of short stature. It specifically analyses the treatment of short stature with growth hormone, along with its side effects, cost/benefit analysis and possible risks. A clinical case from a medical school is also described, intending a better understanding of this frequent ambulatory situation in endocrinology and pediatrics.展开更多
The current knowledge of the Zika Virus epidemic clearly lacks a comprehensive understanding of its determinants and clinical outcomes. Until recently regarded as a “simple” dengue-like infection, it nowadays turned...The current knowledge of the Zika Virus epidemic clearly lacks a comprehensive understanding of its determinants and clinical outcomes. Until recently regarded as a “simple” dengue-like infection, it nowadays turned into a real challenge to Public Health around the world. The Zika Epidemic shows a quick spread, affects unprepared health systems, and presents with severe neurological complications of newborns—a concrete threat to pregnancies. This re-emerging infectious disease is a source of deep doubts and harsh debates regarding Public Health and even bioethical issues. Several doubts still remain on how to deal with the various possible transmission ways of the disease, the surge of a generation of thousands of microcephalic newborns (and questions on how to handle them within limited health systems), and severe malformations concentrated so far in Northeastern Brazil. Finally, a debate is raised about how the “Endemic State” of Brazil, deeply merged in a health care crisis for almost 40 years now, currently confronts 3 current epidemics of the arboviruses Dengue, Chikungunya and now Zika, all associated with a lack of basic sanitation. Brazil must deal with these biological threats in the context of the Rio 2016 Olympic Games, since Chikungunya has probably been brought to Brazil during the FIFA Soccer World Cup (2014) and Zika Virus spread is associated with the Soccer Confederations Cup (2013).展开更多
Dunnigan-type partial lipodystrophy, which is characterized by a number of metabolic alterations, change in body fat distribution, and autosomal dominant inheritance pattern, is rare in the general population. Objecti...Dunnigan-type partial lipodystrophy, which is characterized by a number of metabolic alterations, change in body fat distribution, and autosomal dominant inheritance pattern, is rare in the general population. Objective: To report the case of an adolescent with clinical and laboratory findings suggestive of Dunnigan-type partial lipodystrophy. Methods: Case report and literature review. Results: A 15-year-old adolescent presented at the clinic complaining of darkening of skin folds on her trunk and back. During physical examination, the presence of serious acanthosis nigricans in her cervical region, axillae, and intergluteal space was noted. Hirsutism in androgen-dependent areas was also observed, as well as relevant reduction of subcutaneous adipose tissue in the limbs, gluteal region, abdomen, and trunk and fat accumulation in the face and chin. Discussion. Dunnigan-type familial partial lipodystrophy is a rare dominant autosomal disease resulting from a heterozygous missense mutation in the LMNA gene, known as LPF type 2 (Dunnigan variant), which encodes the nuclear protein A/C-type lamin. It is characterized by the progressive disappearance of the subcutaneous adipose tissue in the limbs, gluteal region, abdomen, and trunk, with onset in puberty, followed by fat accumulation in other areas such as the face, chin, labia majora, and intra-abdominal region, leading to hypertrophy that may mimic the Cushing’s syndrome phenotype. Affected patients display marked insulin resistance and may consequently develop diabetes mellitus, acanthosis nigricans, hirsutism, and polycystic ovary syndrome. Conclusion: This case report highlights the importance of suspecting Dunnigan-type familial partial lipodystrophy in clinical practice. Early clinical diagnosis allows for measures that minimize the severe metabolic disorders associated with this disease and, consequently, these adolescents’ self-esteem issues.展开更多
Diabetes Mellitus is one of the most prevalent diseases in the world. In Brazil, 8.7% of the population between 20 and 79 years of age has diabetes, estimating 11.6 million diabetics. It is commonly associated with ot...Diabetes Mellitus is one of the most prevalent diseases in the world. In Brazil, 8.7% of the population between 20 and 79 years of age has diabetes, estimating 11.6 million diabetics. It is commonly associated with other co-morbidities such as hypertension, dyslipidemia and obesity, which put these patients into a high cardiovascular risk profile. This study was performed using the medical records of enrolled population attending a Family Health Unit of Alto do Coqueirinho, Salvador, Northeastern Brazil, consisting of one doctor, one nurse, one dentist, one nursing technician and six community health workers. Medical records and data provided by the system of the Primary Care Information (SIAB), showed total of 2495 patients. Considering the prevalence morbidities in this population, hypertension was present in 9.8% of patients and Type 2 Diabetes in only 3.6%. Since the prevalence of morbidities is the key indicator to the development of public health policies, it seems important a better knowledge on the prevalence rates of diabetes, prediabetes and its co-morbidities of this population. Future plans and projects for health professionals will be based on a consistent medical record.展开更多
文摘Short stature is a clinical challenge in the daily practice of pediatric endocrinology, regarding the several technical, cultural and economic factors associated with its approach. This article intends to review the physiology of growth hormone secretion, the endocrine regulation of human growth and the clinical aspects of the diagnosis and treatment of short stature. It specifically analyses the treatment of short stature with growth hormone, along with its side effects, cost/benefit analysis and possible risks. A clinical case from a medical school is also described, intending a better understanding of this frequent ambulatory situation in endocrinology and pediatrics.
文摘The current knowledge of the Zika Virus epidemic clearly lacks a comprehensive understanding of its determinants and clinical outcomes. Until recently regarded as a “simple” dengue-like infection, it nowadays turned into a real challenge to Public Health around the world. The Zika Epidemic shows a quick spread, affects unprepared health systems, and presents with severe neurological complications of newborns—a concrete threat to pregnancies. This re-emerging infectious disease is a source of deep doubts and harsh debates regarding Public Health and even bioethical issues. Several doubts still remain on how to deal with the various possible transmission ways of the disease, the surge of a generation of thousands of microcephalic newborns (and questions on how to handle them within limited health systems), and severe malformations concentrated so far in Northeastern Brazil. Finally, a debate is raised about how the “Endemic State” of Brazil, deeply merged in a health care crisis for almost 40 years now, currently confronts 3 current epidemics of the arboviruses Dengue, Chikungunya and now Zika, all associated with a lack of basic sanitation. Brazil must deal with these biological threats in the context of the Rio 2016 Olympic Games, since Chikungunya has probably been brought to Brazil during the FIFA Soccer World Cup (2014) and Zika Virus spread is associated with the Soccer Confederations Cup (2013).
文摘Dunnigan-type partial lipodystrophy, which is characterized by a number of metabolic alterations, change in body fat distribution, and autosomal dominant inheritance pattern, is rare in the general population. Objective: To report the case of an adolescent with clinical and laboratory findings suggestive of Dunnigan-type partial lipodystrophy. Methods: Case report and literature review. Results: A 15-year-old adolescent presented at the clinic complaining of darkening of skin folds on her trunk and back. During physical examination, the presence of serious acanthosis nigricans in her cervical region, axillae, and intergluteal space was noted. Hirsutism in androgen-dependent areas was also observed, as well as relevant reduction of subcutaneous adipose tissue in the limbs, gluteal region, abdomen, and trunk and fat accumulation in the face and chin. Discussion. Dunnigan-type familial partial lipodystrophy is a rare dominant autosomal disease resulting from a heterozygous missense mutation in the LMNA gene, known as LPF type 2 (Dunnigan variant), which encodes the nuclear protein A/C-type lamin. It is characterized by the progressive disappearance of the subcutaneous adipose tissue in the limbs, gluteal region, abdomen, and trunk, with onset in puberty, followed by fat accumulation in other areas such as the face, chin, labia majora, and intra-abdominal region, leading to hypertrophy that may mimic the Cushing’s syndrome phenotype. Affected patients display marked insulin resistance and may consequently develop diabetes mellitus, acanthosis nigricans, hirsutism, and polycystic ovary syndrome. Conclusion: This case report highlights the importance of suspecting Dunnigan-type familial partial lipodystrophy in clinical practice. Early clinical diagnosis allows for measures that minimize the severe metabolic disorders associated with this disease and, consequently, these adolescents’ self-esteem issues.
文摘Diabetes Mellitus is one of the most prevalent diseases in the world. In Brazil, 8.7% of the population between 20 and 79 years of age has diabetes, estimating 11.6 million diabetics. It is commonly associated with other co-morbidities such as hypertension, dyslipidemia and obesity, which put these patients into a high cardiovascular risk profile. This study was performed using the medical records of enrolled population attending a Family Health Unit of Alto do Coqueirinho, Salvador, Northeastern Brazil, consisting of one doctor, one nurse, one dentist, one nursing technician and six community health workers. Medical records and data provided by the system of the Primary Care Information (SIAB), showed total of 2495 patients. Considering the prevalence morbidities in this population, hypertension was present in 9.8% of patients and Type 2 Diabetes in only 3.6%. Since the prevalence of morbidities is the key indicator to the development of public health policies, it seems important a better knowledge on the prevalence rates of diabetes, prediabetes and its co-morbidities of this population. Future plans and projects for health professionals will be based on a consistent medical record.
