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

Gaucher's disease (GD), an autosomal recessive disease, is the most frequent of the group of lysosomal storage diseases. The symptoms and signs are multisystemic, are established chronically and progressively and are due to the accumulation of glucocerebrosides in the bone marrow, spleen, liver, lungs, skeletal tissue and in the brain. There are three types of disease presentation: Type I (the most common), Type II and Type III. It is important to make an early diagnosis because patients can benefit from enzyme replacement therapy (ERT). Key words: Gaucher disease; Diagnosis; Treatment. (source: MeSH NLM)   DOI: 10.25176/RFMH.v18.n2.1288

ABSTRACT Objective: To describe the main epidemiological factors, methods of diagnosis and treatment of retinoblastoma in children of the Edgardo Rebagliati Martins National Hospital. Methods: A retrospective and descriptive study, clinical histories were reviewed, 25 patients with bilateral retinoblastoma were obtained. Descriptive statistics were used for the presentation and analysis of the results. Results: Predominance in preschoolers and males, leucocoria more frequent sign. Conclusion: In addition to what was mentioned in the results, it is more common diagnosis in advanced stages, most received systemic chemotherapy, more than 50% also focal therapy and 44% preserved unilateral vision. Key words: Retinoblastoma; Epidemiological factors; Diagnostic methods; Treatment. (source: MeSH NLM) DOI:  10.25176/RFMH.v18.n3.1591

ABSTRACT Introduction: Vascular calcifications are part of the systemic disorders of bone mineral metabolism in chronic kidney disease (CKD) and represent one of the main causes of mortality.  Objective: To determine the clinical characteristics, prevalence of vascular calcifications and biochemical alterations of the bone mineral disorder in patients with CKD in hemodialysis therapy. Methods: Analytical, cross-sectional and non-experimental study. The prevalence of vascular calcifications (abdominal aorta) was determined according to the validated score (Kaupilla). The association of qualitative variables was used the Pearson Chi-Square. Results: The population included (n: 49), 65% of the patients were incidents in hemodialysis (> 6 months) with a mean hemodialysis time of 2.8 years. The not incident or new patients on hemodialysis (<6 months) was 35%. The average age was 62.1 years, 53% female and 47% male. 67% reached some degree of vascular calcification (Kaupilla score greater than 1) and 45% presented a score higher than 3 (score associated with cardiovascular risk) and that was predominant in the incident population on hemodialysis. 55% had at least one of the biochemical alterations of bone mineral disease (hypercalcemia, hyperphosphatemia or hyperparathyroidism). The association between the biochemical alterations of the bone mineral disorder and the vascular calcification index was not found in this study. Conclusion: Most patients on hemodialysis present some degree of vascular calcification, so it is important to recognize and prevent vascular calcifications because of the cardiovascular risk that it has. Key words: Vascular calcifications; Kaupilla score; Chronic kidney disease. (source: MeSH NLM) DOI:  10.25176/RFMH.v18.n3.1590

ABSTRACT Objective: To determine the percentage of lung volumes and capacities of the inhabitants of Huancayo that live at sea level and to verify if the normality curves of NAHNES III MEXICANO-AMERICANO conform to our population group. Methods: A calibrated MIR SPIROBANK digital spirometer was used, a non-probabilistic sampling was carried out, for convenience, with a population sample of 400 inhabitants comparable by size, age and sex, divided into 2 groups. Results: Men and women living at 3,000 meters above sea level have 13.5% and 14% respectively more FORCED LIFE CAPACITY (CVF), than those living at sea level. Men and women living at more than 3,000 meters above sea level have 12.6% and 14% respectively more FORCED SPIRITUAL VOLUME IN THE FIRST SECOND (VEF 1) than those living at sea level. Men and women living at 3000 meters above sea level have 88.32% and 88.74% of FEV1 / CFV, while men and women living at sea level have 89.55% and 89.5% of FEV1 / CFV. similar with the THEORETICAL VALUES OF NHANES III MEXICANAMERICAN 84,7% and 87% for men and women.Conclusion: The inhabitant of height has FVC and FEV 1 greater than the population that resides at sea level, however the FEV1 / FVC ratio has similar percentages without significant statistical difference. Key words: Height inhabitant; CVF; FEV1; Spirometry; NHANES III. (source: MeSH NLM) DOI: 10.25176/RFMH.v18.n3.1592

ABSTRACT Introduction: To describe the profile in the applications of the blood components (PG, PFC, platelets), in Hospital III Suárez Angamos in the period January - December 2015. Methods: Observational, retrospective, cross-sectional, descriptive research carried out in the bank of Type I blood from Hospital III Suárez Angamos. The population is analyzed and presented according to age and sex group; followed by the population according to epidemiological variables. Results: 1,188 requests of blood hemocomponents, transfused 944 bags, 598 cases of patients, the field with the highest number of incomplete records is the main diagnosis, 371 records (62%); 389 (65%) women and 209 (35%) men were found, the older age group was the older adult (253 cases, 49%), with 522 (100%) requests for blood components and 471 (90%) ) transfusions; followed by the adult group (251 cases, 48%), with 484 (100%) requests and 331 (68%) transfusions. According to the type of care, 444 (74%) were complete, 60 (10%) of partial type and 90 (16%) received no attention. The emergency and gynecological services had the highest number of transfusion requests, 311 (52%) and 170 (28%), respectively, and the emergency internist had the highest number of attentions (287, 48%), the highest number of requests for globular packages (268 cases, 93%) and transfused 92% of the bags requested, followed by the gynecologist. We treated 563 (94%) cases with globular packages, 30 (5%) with fresh plasma and 5 (1%) with platelets; among the criteria used to standardize the main diagnostic field were 125 (55%) and laboratory 102 (45%); the most frequent diagnoses were anemia (91, 40%) and hemorrhage (76, 33%); the most frequent was severe anemia 62 (68%). Conclusion: Incomplete data in transfusion requests 62% (371 of 598 cases), the service with the highest percentage of patient cases, corresponds to emergency 52% followed by gynecology 28%, the type of hemocomponent most commonly used is the globular package 94%, especially in the emergency services (51% required, 287 of 563 cases) and gynecology (required 28%, 170 of 598 cases), the most frequent diagnosis found was anemia 40%, followed by hemorrhage 33%. Key words: Blood transfusion; Hemocomponent; Anemia. (source: MeSH NLM) DOI:  10.25176/RFMH.v18.n3.1589

ABSTRACT Introduction: Gitelman's syndrome is an infrequent tubulopathy, transmitted by autosomal recessive inheritance due to mutations of the SLC12A3 gene, which is responsible for encoding the cotransporter Na Cl synthesis of the distal convoluted tubule. This tubulopathy is characterized by hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis. Signs and symptoms are avid for salty foods, normal or low blood pressure, physical exercise intolerance, growth retardation, and short stature. Case Description: An 11-year-old male patient who presented weakness of upper and lower limbs on admission associated with muscle weakness. The physical examination of income is normal. Initial laboratory tests showed serum potassium of 2.8 mEq / L sodium of 132 mEq / L, chlorine of 84.26 mEq / L, magnesium of 1.4 mEq / L, calcium of 11.3 mEq / L. Venous gasometry at pH 7.42, pCO2, 34.1mmHg; PO2 36.8mm; Bicarbonate 31mmol / L. Conclusion: It is important to consider Gitelman's syndrome, since it is possible to suspect if a patient presents with tiredness, muscle weakness or saltiness, supporting a diagnosis of serum electrolytes. Treatment should be started with oral magnesium supplements and periodic monitoring. Key words: Gitelman's syndrome; Hypokalemia; Metabolic alkalosis; Hypomagnesaemia. (source: MeSH NLM) DOI:  10.25176/RFMH.v18.n3.1597

ABSTRACT Introduction: We are currently experiencing the diabetes pandemic, in 2017 the "International Diabetes Federation" reported that 425 million adults have diabetes. Within the prevention and screening we have FINDRISC (Finnish Diabetes Risk Score), a test that is being widely used, so we must review the available evidence, if it has sufficient predictive capacity to be recommended and used, if there is personalization according to sociodemographic patterns, and if it has relationships. Methods: In this systematic review article, the information was compiled from PubMed, Elsevier library, ScienceDirect, BMJ Journals and “Revista de la facultad de Medicina Humana de la URP. Results: Of 30 articles found, 23 were selected: 12 were analytical, 7 descriptive, 2 cases and control, 2 clinical trials. Conclusion: The average AUC is 77.81%, so it has sufficient positive predictive capacity. 91% suggest its use, 35% of studies have personalized it and can be linked to metabolic syndrome, subclinical vascular complications and quality of life. Key words: FINDRISC; Metabolic syndrome; Prediabetic state; Obesity; Health Survey; Diabetes Mellitus, Type 2, Detection, Risk; Public health. (source: MeSH NLM) DOI:  10.25176/RFMH.v18.n3.1594

ABSTRACT Male patient, 54 years old, with a history of Guillain-Barré syndrome, treated with Gabapentin. Four months before admission presents autoimmune hemolytic anemia, treated with prednisone. At the time of admission to middle effort dyspnea presents, asthenia, palpitations, hyporexia, hypotension, weight decreased. Western blot test was positive for HTLV-1. Shaking hands is added. A case of Guillain-Barré syndrome and hemolytic anemia is reported in a context of infection with human T lymphotropic virus type I. Key words: Guillain-Barré syndrome; Hemolytic anemia; human T lymphotropic virus type I (HTLV-1). (source: MeSH NLM) DOI:  10.25176/RFMH.v18.n3.1596

ABSTRACT Health systems are designed to improve the health of the population and therefore require rapid identification of the most relevant events that affect it. Given this, they have seen the obligation and need for establishing surveillance systems that must be optimized permanently; to do so, they must identify the processes that must be monitored and evaluated. Key words: Health systems; Epidemiological surveillance; Identification of processes.  (source: MeSH NLM) DOI: 10.25176/RFMH.v18.n3.1593

ABSTRACT Fabry disease is a lysosomal storage disease caused by alpha galactosidase A enzyme deficiency. The pattern of inheritance is X-linked. The clinical presentation has a variety of symptoms and signs; and a classic clinical variant and non-classical clinical variants such as renal or cardiac have been described. The diagnosis is clinical and laboratory and even molecular and in some cases histology of the compromised organ is needed. The treatment in recent years remains symptomatic therapy and with enzyme replacement therapy; although chaperones are already available for the treatment of a group of patients with "amenable" mutations and they are studying gene therapy and nanotechnology. It must have a multidisciplinary approach, given the variety of symptoms and signs in its presentation. Early detection and early initiation of therapy could improve quality of life and limit the progression of the disease; and finally genetic counseling should always be considered. Key words: Fabry disease, Alpha galactosidase, Chronic kidney disease. (source: MeSH NLM) DOI:  10.25176/RFMH.v18.n3.1595