Sistema Regional de Información
en línea para Revistas Científicas de América Latina,
el Caribe, España y Portugal

Kocher-Debré-Semelaigne Syndrome (SKDS) is described within the atypical clinical forms associated with severe, untreated and long-standing congenital hypothyroidism with manifestations of diffuse muscle pseudohypertrophy and predominantly proximal muscle weakness, reversible to replacement with levothyroxine. Aim: To report the case of a child with congenital hypothyroidism due to disembriogenesis (atyreosis), who remained with poor control of the disease during the 1st year of life and myopathic manifestations from de neonatal stage. Results: The diagnosis is confirmed through specific studies, with evidence of characteristic myopathic patterns. Partial clinical regression is achieved 9 months after maintaining stability of TSH and thyroid hormones, coinciding with the normalization of the muscle enzyme creatine phosphokinase (CPK). At 12 years of follow-up, he maintained slight hypertrophy of the muscle of the upper extremities, dorsal and buttocks, despite remaining euthyroid. Conclusions: The presence of muscular hypertrophy should be considered a clinical finding of suspected hypothyroidism, even with the implementation of neonatal screening programs. Partial regression of muscle pseudohypertrophy is possible with restoration of thyroid function, and should be taken into account in the differential diagnosis of other primary myopathies.

COVID-19 is a disease caused by a new coronavirus identified as SARS-CoV-2. Towards the end of 2020, the FDA of the United States approved the first vaccine for emergency use against COVID-19, which was developed by Pfizer and BioNTech (BNT162b2). This new type of vaccine uses a modified RNA Messenger, which gives instructions to the host cells of the vaccinated person to produce a fragment of the spike protein of the virus, which then generates an inmune response and protects the recipient of the vaccine against COVID-19. Among the adverse events less frequently reported in the initial clinical studies of the vaccine is lymphadenopathy which was reported by 0.3% of the participants. Objective: Presentation of a case report of a male subject that came to a ultrasound evaluation due to concern of a palpable nodule in the supraclavicular región. Results: Ultrasound exam showed reactive unilateral cervical and supraclavicular lymphadenopathy. Patient reports a third dose booster with the Pfizer-BioNTech COVID-19 (BNT162b2) vaccine, 8 days prior to the evaluation, after completing a two-dose vaccination schedule with the Coronavac/Sinovac vaccine, confirming a vigorous immune response to the mRNA anti-COVID vaccines. This response was validated by elevated Anti-SARS-CoV-2 TrimericS IgG (10,600 BAU/mL). Patient was informed to return in a week for an echography follow-up which showed spontaneous resolution without leaving sequelae. Conclusions: It is of great importance to inform this benign finding of supraclavicular or axillar adenopathy subsequent to COVID vaccination to the medical community and patients, to avoid unnecessary medical interventions such as imaging or biopsies, which generate anxiety to the patient as well as additional costs.

Introduction: Left ventricular non-compaction cardiomyopathy (LVNC) is a cardiomyopathy not classified by the World Health Organization. It is described as a very rare congenital disease where endomyocardial trabeculations that increase in number and prominence are observed. This cardiomyopathy carries a high risk of malignant arrhythmias, thromboembolic events and left ventricular dysfunction. Objective: To report the case of a 34-year-old woman, previously diagnosed with morbid obesity, who came to the outpatient clinic for a preoperative cardiovascular evaluation. The electrocardiogram showed a slightly dilated left ventricle (LV) and striking trabeculation. Results: The diagnosis of LVNC was confirmed by magnetic resonance imaging. Surgery was authorized and lifestyle changes and change of medication for heart failure risks were recommended. On the last echocardiogram, LV diameters show improvement from the first. Conclusions: The presence of trabeculations in the LV should be considered as clinical data of suspected LVNC. Further investigations on the causes of this unclassified cardiomyopathy should be performed to develop better therapeutic ways, however, the efficacy of angiotensin II receptor blockers in the pharmacotherapeutic management of this condition has been proven.  

Introduction: Child malnutrition represents one of the most important public health issues in the Dominican Republic (DR) and the whole world. Despite this reality, there are currently no studies in the DR that describe the nutritional status in primary school children. Material and method: This cross-sectional study described the main anthropometric variables in children from elementary schools in Santiago, RD, in addition to determining the relationship between anthropometry status and some sociodemographic variables. Results: 2,271 participants were analyzed; the mean weight was 33.2 ± 11.4 kg, height was 1.36 ± 0.13 m. The mean percentile was 65.33%. 3.92% (n=89) were underweight, 17.57% (n=399) were overweight, and 22.94% (n=521) were obese. Conclusion: Childhood overweight and obesity was the most prevalent disorder, both in rural and urban areas, and both in private and public centers.

Introduction: Alterations of bone-mineral metabolism are an important cause of morbidity in patients with kidney transplantation, so the management of long-term transplant patient complications should be followed. The study tries to demonstrate changes in bone and mineral metabolism in patients with chronic renal disease undergoing kidney transplant in the Hospital General Plaza de la Salud during the period January 2010 to August 2018, Santo Domingo, Dominican Republic. Method: Observational, Descriptive, Retrospective and Cross-sectional Study of 131 transplants performed at Hospital General Plaza de la Salud, evaluating changes of calcium (Ca), phosphorus (P) and parathyroid hormone (PTH) before and 3 months post-transplant. Results: The mean age of the patients included was 43.1 ± 13.1 years, 72.51% belonged to the male sex, with a mean time on hemodialysis in months of 27.0 ± 33.6, 60% of the transplants performed were from live donors and 63% from the patients had hypertension as comorbidity. The mean PTH level decreased in the first 3 months after transplantation compared to the pre-transplant (779.6 ± 1004.0 vs 167.9 ± 138.2 pg/ml). Phosphate decreased significantly (4.9 ± 1.6 vs 3.5 ± 0.8) and calcium increased (9.0 ± 1.2 mg / dl vs. 9.7 ± 0.8 mg / dl). Discussion: The general changes in serum levels of Ca, P, PTH, BUN and Creatinine from the time of TR to 3 months post TR were all significant.

Introduction: Congenital heart diseases are structural alterations of the heart and/or great vessels that develop during embryogenesis. There is an apparent increase in the incidence of congenital heart disease (CHD) in recent research, especially acyanotic heart disease, such as communication interventricular (VSD) and interatrial (ASD), as well as to a lesser degree other heart diseases, such as transposition of the great vessels (TGV) and hypoplastic left heart syndrome (HLHS). Material and methods: Observational, descriptive, cross-sectional and retrospective study on the incidence of congenital heart disease in patients admitted to the Neonatology Unit of the Robert Reid Cabral Children’s Hospital during the period 2016-2018 (until epidemiological week #38). The sample was 76 patients (n=76). Results: The incidence of congenital heart disease was 4.97%. 59.2% were male. More than 65% of patients came from the eastern region of the country. Dyspnea represented more than 70% of the reasons for consultation, followed by cyanosis. 35.5% of the heart diseases corresponded to VSD, which was the most frequently presented congenital heart disease, followed by ASD. Conclusion: We observed a global incidence of congenital heart disease of 4.97% with a predominance in males. The patients came from the eastern region in more than half of the cases, and more frequently presented dyspnea as a reason for consultation. The highest incidence of congenital heart disease was VSD.

Introduction: Physical exercise is one of de fundamental pillars in the treatment of people with diabetes. Adjusting the therapeutic regimen allows safe participation and high performance of physical activity. Aim: To describe the effects and importance of physical exercise in people with diabetes mellitus. Method: A documentary investigation was carried out. It was used as a search engine for scientific information Google Academic. Books, research and review articles from different databases were evaluated: LILACS, PubMed, SciElo, Cochrane and web pages in Spanish, English and Portuguese. Results: In people with diabetes, aerobic physical exercises are recommended, they increase insulin sensitivity and have a favorable influence on metabolic control. Resistance exercises are also beneficial in order to improve muscle strength. Before developing an exercise program, the person with diabetes mellitus must undergo a detailed medical evaluation. The indication of the type of exercise, its intensity and duration must be personalized. Glycemic control before, during and after exercise is essential. Encouraging play in young children is the best way to ensure enjoyable physical activity. Conclusions: The physical exercise should be indicated in people with diabetes mellitus due to its multiple health- related benefits; its indication must be individualized.

Introduction: The lack of metabolic control in patients with Type 1 Diabetes Mellitus (T1DM) can cause severe complications and reduce their life expectancy. Transition into adolescence among children with T1DM effects important changes that could negatively influence their metabolic control. Purpose: To determine knowledge, perceptions, needs and challenges of Dominican adolescents with T1DM. Methodology: Phone interviews to adolescents with T1DM between 14 and 18 years. Analysis included coding using the Health Belief Model, and using Nvivo, with a deductive and inductive approach. Results: Participants reported a high level of perceived susceptibility to complications, and severity associated to an incurable disease that causes severe complications. Within modifying factors, the family socioeconomic level was identified as relevant, and the role of support networks in managing their disease was mentioned as an external variable. Conclusions: Culturally, relevant interventions are needed to improve metabolic control and psychosocial aspects among Dominican adolescents with T1DM, including the use of a self-management mobile application; in addition, incorporating perspectives, context realities and knowledge of adolescents in developing therapeutical education strategies about T1DM could improve the impact of these strategies.

Introduction: Travel Medicine specialty has existed for more than 40 years. However, this is practically unknown by Dominicans despite the large number of people who travel to and from our country. Methods: With the objective of determining the knowledge of Dominicans about the existence of Travel Medicine specialty and their attitudes in relation to it, we conducted a virtual survey of 8 questions, in which 2,584 Dominicans participated. Results: Despite the fact that more than 80 % of those surveyed knew that to travel to certain countries they had to take certain vaccines, less than 25 % had heard of the specialty of Traveler’s Medicine. After knowing the definition and objectives of the specialty, more than 90 % of the participants considered it important to consult a specialist prior to the trip. Conclusion: The lack of knowledge of the specialty and the absence of this service in the public health system are the main barriers to the access of Dominicans to the Travel Medicine consultation. It is necessary to publicize the specialty, using scientific evidence and taking as an example the worldwide dissemination of COVID-19 through travelers, to make the population aware of the importance of pre and post-trip consultation, as well as the creation of this service in public hospitals.