Anencefalia en un feto a término Santos Fonseca, Rafael Salvador; Casado Méndez, Pedro Rafael
Revista habanera de ciencias médicas,
07/2023, Volume:
22, Issue:
4
Journal Article
Peer reviewed
Open access
Introduction: Anencephaly is a lethal neural tube defect that occursdue to defective anterior neural tube closure.Objective: To present a clinical case of anencephaly in a term fetusdue to an ...insufficient prenatal diagnosis, which is very rare in clinicalpractice.Case presentation: Dead male fetus, weighing 3301 grams, grotesquein appearance, with absence of cranial bones, altered facial structure withprominent orbits and ear pavilions, and full palate.Conclusions: Anencephaly is a congenital malformation susceptibleto early biochemical and imaging diagnosis. This is a malformationof undetermined multifactorial etiology, which is closely associatedwith multiple genetic factors and folate deficiency and their metabolicpathways.
Introducción: La anencefalia es un defecto letal que ocurre debido al cierre defectuoso del poro anterior del tubo neural.Objetivo: Presentar un caso clínico poco frecuente en la práctica clínica de anencefalia en un feto a término por deficiente diagnóstico prenatal. Presentación de Caso: Feto masculino, muerto, de 3301 gramos de peso, de aspecto grotesco con ausencia de huesos craneales, estructura facial alterada con órbitas y pabellones auriculares prominentes y paladar íntegro.Conclusiones: La anencefalia es una malformación congénita susceptible de un diagnóstico bioquímico e imaginológico precoces. Esta malformación es de etología multifactorial aun no determinada pero íntimamente asociada a factores poligenéticos y déficit de folatos y sus vías metabólicas.
Vancomycin has recently gained popularity as an empiric therapy for late onset sepsis in the NICU. Changes in resistance patterns in common organisms has resulted in targeting higher trough ...concentrations of vancomycin. Consequently, an increase in vancomycin associated nephrotoxicity has been speculated. The objective of this study is to compare the incidence of acute kidney injury (AKI) in neonates with serum vancomycin trough concentrations less than 10 mg/L, 10-15 mg/L, or greater than 15 mg/L.
A retrospective chart review of patients in the neonatal intensive care unit (NICU) was conducted to determine the incidence of AKI in neonates receiving vancomycin.
The overall incidence of AKI was 2.7%. Comparison of the incidence of AKI in the three groups using Mantel-Haenszel Chi-Square test showed a statistically significant association between increasing vancomycin trough concentration and incidence of AKI.
There is a low incidence of AKI in neonates receiving vancomycin. However, there is a positive correlation between increasing vancomycin trough concentrations and an increasing serum creatinine.
Este artigo apresenta e propõe contribuições teórico-práticas consideradas pertinentes à Educação Escolar em uma perspectiva histórico-cultural. Para tal, parte de pressupostos de Lev Vigotski, ...Alexei Leontiev, Vasilii Davidov e Danill Elkonin com ênfase nas atividades pedagógicas de ensino e no processo de desenvolvimento de estudantes em idade escolar, com base na perspectiva de periodização do desenvolvimento psicológico, em suas mútuas relações e em seu potencial de aplicação em processos formativos e em práticas pedagógicas de/por professores da Educação Básica. As contribuições teórico-práticas aqui apresentadas são defendidas como possibilidades para orientar ações de formação docente que direcionem esses profissionais à criação de atividades pedagógicas de ensino que favoreçam o processo de desenvolvimento dos escolares. Contudo, é essencial que o professor conheça e discuta o papel da Educação Escolar, a relevância do trabalho docente, a importância dos conceitos científicos, a organização e a estruturação do ensino planejadas visando ao desenvolvimento de seus estudantes.
Smoldering (asymptomatic) multiple myeloma is an asymptomatic plasma-cell proliferative disorder associated with a high risk of progression to symptomatic multiple myeloma or amyloidosis. Prognostic ...factors for the progression and outcome of this disease are unclear.
We searched a computerized database and reviewed the medical records of all patients at Mayo Clinic who fulfilled the criteria of the International Myeloma Working Group for the diagnosis of smoldering multiple myeloma between 1970 and 1995. Bone marrow aspirate and biopsy specimens were studied, and patients were followed throughout the course of disease.
During the 26-year period, 276 patients fulfilled the criteria for smoldering multiple myeloma. During 2131 cumulative person-years of follow-up, symptomatic multiple myeloma or amyloidosis developed in 163 persons (59%). The overall risk of progression was 10% per year for the first 5 years, approximately 3% per year for the next 5 years, and 1% per year for the last 10 years; the cumulative probability of progression was 73% at 15 years. At diagnosis, significant risk factors for progression included the serum level and type of monoclonal protein, the presence of urinary light chain, the extent and pattern of bone marrow involvement, and the reduction in uninvolved immunoglobulins. The proportion of plasma cells in the bone marrow and the serum monoclonal protein level were combined to create a risk-stratification model with three distinct prognostic groups.
The risk of progression from smoldering multiple myeloma to symptomatic disease is related to the proportion of bone marrow plasma cells and the serum monoclonal protein level at diagnosis.
A panel of members of the 2009 International Myeloma Workshop developed guidelines for risk stratification in multiple myeloma. The purpose of risk stratification is not to decide time of therapy but ...to prognosticate. There is general consensus that risk stratification is applicable to newly diagnosed patients; however, some genetic abnormalities characteristic of poor outcome at diagnosis may suggest poor outcome if only detected at the time of relapse. Thus, in good-risk patients, it is necessary to evaluate for high-risk features at relapse. Although detection of any cytogenetic abnormality is considered to suggest higher-risk disease, the specific abnormalities considered as poor risk are cytogenetically detected chromosomal 13 or 13q deletion, t(4;14) and del17p, and detection by fluorescence in situ hybridization of t(4;14), t(14;16), and del17p. Detection of 13q deletion by fluorescence in situ hybridization only, in absence of other abnormalities, is not considered a high-risk feature. High serum β2-microglobulin level and International Staging System stages II and III, incorporating high β2-microglobulin and low albumin, are considered to predict higher risk disease. There was a consensus that the high-risk features will change in the future, with introduction of other new agents or possibly new combinations.
Survival has improved in patients diagnosed with multiple myeloma (MM) over the last two decades; however, there remains a paucity of data on the causes of death in MM patients and whether causes of ...death change during the disease trajectory. We conducted a retrospective population-based study to evaluate the rates of MM-specific vs non-MM cause of death and to identify factors associated with cause specific death in MM patients, stratified into autologous stem cell transplant (ASCT) and non-ASCT cohorts. A total of 6677 patients were included, 2576 in the ASCT group and 4010 in the non-ASCT group. Eight hundred and seventy-three (34%) ASCT patients and 2787 (68%) non-ASCT patients died during the follow-up period. MM was the most frequent cause of death, causing 74% of deaths in the ASCT group and 67% in the non-ASCT group. Other cancers were the second leading cause of death, followed by cardiac and infectious diseases. Multivariable analysis demonstrated that a more recent year of diagnosis and novel agent use within 1 year of diagnosis were associated with a decreased risk of MM-specific death, whereas a history of previous non-MM cancer, older age, and the presence of CRAB criteria at diagnosis increased the risk of non-MM death. Our data suggests that despite improvement in MM outcomes in recent years, MM remains the greatest threat to overall survival for patients. Further advances in the development of effective MM therapeutic agents in both ASCT and non-ASCT populations and patient access to them is needed to improve outcomes.
Klippel-Trénaunay syndrome (KTS) is a rare congenital condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, ...and bony and/or soft tissue hypertrophy.
Here we report the first case of a one-day-old male with KTS presenting with crossed-bilateral limb hypertrophy and post-axial polydactyly.
This case serves to highlight the variable presentation and multiple problems faced by patients with KTS and why multidisciplinary management is mandatory.
Some genetically modified (GM) plants have transgenes that confer tolerance to abiotic stressors. Meanwhile, other transgenes may interact with abiotic stressors, causing pleiotropic effects that ...will affect the plant physiology. Thus, physiological alteration might have an impact on the product safety. However, routine risk assessment (RA) analyses do not evaluate the response of GM plants exposed to different environmental conditions. Therefore, we here present a proteome profile of herbicide-tolerant maize, including the levels of phytohormones and related compounds, compared to its near-isogenic non-GM variety under drought and herbicide stresses. Twenty differentially abundant proteins were detected between GM and non-GM hybrids under different water deficiency conditions and herbicide sprays. Pathway enrichment analysis showed that most of these proteins are assigned to energetic/carbohydrate metabolic processes. Among phytohormones and related compounds, different levels of ABA, CA, JA, MeJA and SA were detected in the maize varieties and stress conditions analysed. In pathway and proteome analyses, environment was found to be the major source of variation followed by the genetic transformation factor. Nonetheless, differences were detected in the levels of JA, MeJA and CA and in the abundance of 11 proteins when comparing the GM plant and its non-GM near-isogenic variety under the same environmental conditions. Thus, these findings do support molecular studies in GM plants Risk Assessment analyses.
The extraction of sucrose in a cane diffuser depends mainly on the percolation rate, and its optimisation requires the monitoring and control of the liquid holdup with the cane bed. However, most ...conventional methods that measure liquid levels are not suitable for this application. Operators control the observed liquid level through diffusers' sight glasses, adjusting the spray position according to visual inspections. The method is inefficient, and a more accurate and reliable measurement process should be implemented towards maximising the sucrose extraction. This article proposes a novel methodology that uses conductance measurements as indicators of the liquid level in cane beds. Conductance, observed liquid level and flow rate variations were analysed under several conditions, such as steady and unsteady states. The effects of the main variables on the observed liquid level and their mathematical relationship were assessed for the validation of the measurements, and experimental tests were conducted on a BMA cane diffuser at Maidstone factory in South Africa. The results are reproducible and show conductance can qualitatively characterise a flooded cane bed.
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