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

Introduction: congenital insensitivity to pain is a hereditary whose main characteristic is absolute analgesia to pain.Objective: to describe the main existing therapeutic actions for patients with congenital insensitivity to pain in its diverse subtypes.Method: a total of 30 scientific articles were reviewed, which met the inclusion criteria. Databases such as Medline (PubMEd) and SciELO were consulted. All studies with limited or insufficient quality of evidence, or those in which full-text information was not available, were excluded.Development: at present, studies related to the use of bisphosphonates and minimal scale surgical interventions for the reduction of bone complications of the disease and the use of opioid receptor antagonists such as naloxone with the aim of reducing analgesia in these patients stand out. It also highlights research related to nerve growth factor in conjunction with the expression of the high affinity tyrosinkinase receptor for this factor, which produces a relative improvement with respect to the absolute analgesia that is evidenced in this disease.Conclusions: although the mechanisms by which it is established are not yet fully clarified, there is strong scientific evidence that supports a central role of genetics in the etiology of the disease. There is no highly effective therapeutic alternative in the current medical literature; that is why the basic role of these actions is based on prevention, education and interdisciplinary treatment.

Introduction: hemoglobinopathies are a group of genetic diseases, caused by disorders in the structure of hemoglobin chains. The Cuban National Health System's priority is the early diagnosis of these diseases.Objectives: to characterize the behavior of hemoglobinopathies in pregnant women in Sancti Spíritus province in the period from 2011 to 2018.Methods: an observational, descriptive, longitudinal and retrospective study was conducted using the databases of the Provincial Center of Medical Genetics of Sancti Spíritus. The universe consisted of 28 461 pregnant women who were studied and the sample was 756 pregnant women who presented some kind of hemoglobinopathies.Results: out of the total number of pregnant women studied, 2,56 % were carriers of hemoglobinopathies, 90,60 % of the couples were studied and a total of 32 couples on risk were diagnosed and genetically counseled. The most common variants of hemoglobinopathies were AS (79,89 %) and AC (14,42 %). The municipalities with the highest number of hemoglobinopathies carriers were Sancti Spíritus (30,03 %) and Trinidad (28,70 %).Conclusions: the prevalence of hemoglobinopathies in pregnant women in Sancti Spíritus province was described. A low prevalence of hemoglobinopathies is shown in pregnant women from Sancti Spíritus province.

Introduction: COVID-19 is an emerging disease with global incidence, which exhibits a greater number of complications in patients with comorbidities, mainly in those with a history of cardiovascular disease.Objective: to describe the implications of COVID-19 in the cardiovascular system.Method: A review of the literature was conducted in the MEDLINE, SciELO, JAMA and Elsevier databases, recovering 35 articles, which were taken as the basis for the present review. The combination of terms using search formulas was used to retrieve articles.Development: COVID-19 can be variable in correspondence with the presentation form and accompanying symptoms, as well as the recipient's immune response. SARS-CoV-2 binds to cells through the viral spike structural protein that binds to the angiotensin-converting enzyme 2 receptor from viral receptors; therefore, hypertensive patients or those with other cardiovascular conditions have a higher risk of developing severe forms of COVID-19. Among the cardiovascular diseases associated with infection by a coronavirus, myocarditis, arrhythmias, acute myocardial infarction and heart failure stand out.Conclusions: the main cardiovascular implications in patients with COVID-19 are arrhythmia, thromboembolic disease, myocarditis, heart failure of acute onset and myocardial infarction, which condition a more serious picture of the disease. The inflammatory response, hemodynamic changes secondary to the viral process, as well as hypoxemia, constitute mechanisms of negative impact on cardiovascular health, leading to the development of acute cardiac injury.

Introduction: the sirenomelia sequence is a primary defect that occurs in the mesoderm of the posterior middle axis of the embryo and turns out the fusion of the primordium of limbs in its fibular margins, with absence or complete development of the intercurrent caudal structures.Case report: a 36-year-old pregnant woman with a reproductive history of three previous pregnancies and two deliveries without abortions, who in the genetic risk assessment consultation, classified as increased genetic risk (risk of chromosomal alterations). A history of possible exposure to teratogens was collected. Multiple congenital defects were observed in the study of the fetus by means of ultrasound. Genetic counseling and reproductive options are provided in multidisciplinary team office to both members of the couple. Both gave their consent for the interruption of pregnancy. The pathological study confirmed multiple congenital anomalies.Conclusions: major congenital anomalies, that are part of the sirenomelia sequence, can be diagnosed in the prenatal stage by means of Ultrasonography Studies during the first and second trimesters of pregnancy. The definitive and classified diagnosis can be completed after the pathological study of the fetus.  Genetic counseling is improved and based on the consideration of the alterations in embryogenesis with its genetic and environmental aspects; where the concluding aspects are personalized considering the pregnant woman, her family, as well as her social and personal situation.

Introduction: the reverse transcriptase polymerase chain reaction is a highly precise technique in the detection and amplification of genetic material, and therefore in the detection of viruses.Objective: to describe the bases of the use of the polymerase chain reaction with reverse transcriptase as a diagnostic test in the detection of SARS-CoV-2.Method: a literature review was carried out on articles published up to May 2020. The following databases were consulted: Scopus, Wiley Online Library, SciELO, DIALNET, EBSCO, MEDLINE and PubMed. Articles in Spanish and English were retrieved, selecting 43 references.Development: The reverse transcriptase polymerase chain reaction to detect SARS-CoV-2 consists of reading RNA-dependent RNA polymerase, ORF1ab fragments, the E gene, the N gene, and the S gene. The nasopharyngeal exudate offers better results than oropharyngeal and saliva as sample. The inclusion of reverse transcriptase polymerase chain reaction tests using rectal swab specimens is necessary in suspected false negative cases. New studies and techniques are developed with the aim of optimizing the detection process.Conclusions: the availability of diagnostic tests is crucial for the isolation of positive cases and the monitoring of the epidemiological chain of transmission. RT-PCR turned out to be the test of choice during the viral replication period. The RT-LAMP assay is a rapid diagnostic alternative with similar principles to RT-PCR. 

Introduction: cranioencephalic trauma constitutes a global health problem, and it is characterized by cerebral alterations after a traumatic injury to the skull.Objective: to characterize patients with cranioencephalic trauma attended at Abel Santamaria Cuadrado General Teaching Hospital in Pinar del Río, from January to December 2016.Methods: descriptive, cross-sectional and observational study that was carried out at Hospital at Abel Santamaria Cuadrado General Teaching Hospital, Pinar del Río, in 2016. A sample of 125 patients with clinical-imaging diagnosis of cranioencephalic trauma from a target group of 178 patients was probabilistically chosen at random. Clinical histories were analyzed to collect the information that gave rise to the variables studied. Medical ethics principles were met.Results: male patients predominated (79,2 %), with a mean age of 57,1 ± 19,1 years. Alterations in the level of consciousness were the main clinical manifestations upon admission (46,4 %), with brain contusion (31,2 %) and skull fracture (31,2 %) being the main imaging findings; 39,2 % of the patients underwent surgery, where the 27,2 % of them presented complications, cerebral edema (41,18 %) was the main problem. On discharge, patients with no functional disability predominated (70,48 %).Conclusions: male patients, in their fifth decade of life, are prone to suffer a cranioencephalic trauma, presenting alterations in the level of consciousness upon admission, generally with the presence of encephalic contusion and cranial fracture when imaging tests were performed. Surgical treatment was required in most patients, where edema appears as a common complication.

Introduction: left ventricular hypertrophy (LVH) is defined as the increase in the thickness of the wall or the interventricular septal portion (or both). This entity represents an important risk factor that is related to the increase in mortality. Its diagnosis is based on voltage criteria that become visible on the is based on voltage criteria that become visible on the electrocardiogram, such as that the R-wave voltage criterion in lead aVL (RaVL).Objective: to evaluate the diagnostic utility of the R-wave voltage criterion in lead aVL (RaVL) for left ventricular hypertrophy.Methods: an observational, analytical and cross-sectional study was conducted, where 127 patients were studied. Clinical and electrocardiographic variables were studied.Results: left ventricular hypertrophy was identified by echocardiography in 69 % of patients. The voltage criterion of the R-wave in lead aVL (RaVL) had a low sensitivity (14,9 %), high specificity (92,5 %) and high positive predictive value (81,3%). The Odds ratio of the R-wave in lead aVL (RaVL) for concentric left ventricular hypertrophy was 0,85 while for the severe one it was 6,13.Conclusions: the voltage criterion of the R-wave voltage in lead aVL (RaVL) was more useful to confirm the cases that in reality present left ventricular hypertrophy and not to deny such existence, but not to discriminate between both types of left ventricular hypertrophy. This criterion is very useful to detect severe forms of this entity.

Introduction: hearing loss is the functional deficit that occurs when a person loses hearing capacity to a greater or lesser degree; currently being a disease on the rise among the young population.Objective: to describe the effect of noise as a causal factor of hearing loss in young people and adolescents.Method: an information search was performed in SciELO, Scopus and ClinicalKey. A total of 20 articles referring to the characteristics of hearing loss in young people and adolescents were selected.Development: hearing loss is a common disorder in society with incidence in all age groups. The age range of onset of hearing disorders has decreased considerably, which means that, over time, the young population is more affected by this disease. Although it is true that the population most affected is the elderly, the constant use of headphones and high levels of noise pollution have caused their increase in young people. Constant exposure to music at high volumes as well as other noises affect the integrity of the auditory pathway.Conclusions: hearing loss is an important health problem in young people and adolescents with a negative influence on the structuring of intelligence and social skills and psychological state. Exposure to high volumes in headphones, as well as noise pollution from noise and loud music are its main causes.

Introduction: prolongation of the QRS complex due to complete and incomplete blockages of the left branch of the His bundle is an important predisposing factor for systolic heart failure. Cardiac resynchronization therapy that includes the use of an implantable cardiac device can provide clinical benefit for patients suffering from these pathologies.Case Report: the case of a 65 year-old female patient, suffering from Hypertension and Ischemic Cardiophaty, who had a long history of decompensating crisis of her particular diseases over the years. She was admitted complaining of oppressive chest pain, which showed up suddenly. With the realization of an electrocardiogram a diagnosis of left bundle branch block and a minor-degree atrioventricular block associated was made.Conclusions: trifascicular blockades can be shown as fatal complications of ischemic cardiophaty. The auricular ventricle or intraventricular blockades have extensive presentation population between the 6th and 8th decades of life.