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1.
BMC Nurs ; 22(1): 331, 2023 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-37752481

RESUMO

BACKGROUND: A clear need for the development of new comprehensive, reliable, sensitive and valid measurement tools to adequately asses the cultural competence and cultural sensitivity of nursing students exists. This study aimed to develop a new measurement tool to assess the nursing students' cultural competence and sensitivity. METHODS: This cross-sectional, instrument development study's first phase included postgraduate nursing students (n = 60) for the piloting study, and the second one included undergraduate nursing students (n = 459) for the main survey. This study used two data collection forms: The Student Descriptive Information Form and the Better and Effective Nursing Education for Improving Transcultural Nursing Skills Cultural Competence and Cultural Sensitivity Assessment Tool (BENEFITS-CCCSAT) draft. The content validity index was calculated using the Davis method. Cronbach's α coefficient and the item total correlation were calculated during the reliability analysis. The Kaiser-Meyer-Olkin (KMO) coefficient test, Bartlett significance test, and explanatory factor analysis (EFA) were used to evaluate the validity of the assessment tool. RESULTS: Scale validity and reliability analyses showed that the BENEFITS-CCCSAT included 26 items and five sub-dimensions: respect for cultural diversity; culturally sensitive communication; achieving cultural competence; challenges and barriers in providing culturally competent care; and perceived meaning of cultural care. CONCLUSION: The BENEFITS-CCCSAT appears to be a valid and reliable instrument for measuring the cultural sensitivity and cultural competence of nursing students. This can be of great use, especially before attending clinical areas, and can offer both students and faculty reliable information to promote reflective and critical thinking, especially in areas where improvement is needed.

2.
BMC Nurs ; 22(1): 356, 2023 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-37798717

RESUMO

BACKGROUND: Several educational activities in nursing schools worldwide have been implemented to promote transcultural nursing and cultural competence. Despite the diversity of their experiences and outcomes, the available evidence has not been systematically reviewed and reinterpreted. This study aimed to review and reinterpret all rigorous qualitative evidence available, providing an opportunity to understand how students learn transcultural nursing and assisting faculties, researchers, managers, and practitioners in designing new interventions to improve transcultural training. METHODS: A meta-synthesis was conducted to review and integrate qualitative studies of these phenomena. English, Spanish and Portuguese articles were searched in Pubmed and Scopus databases. Only peer-reviewed journals in which qualitative approaches were used were included. Quality was assessed using the CASP qualitative version checklist. The metasynthesis technique proposed by Noblit and Hare was used to analyse the data. RESULTS: Twenty-nine studies were included in the analysis. Most studies used phenomenological approaches that were conducted in Australia and the United States of America, with international internships being the most popular learning method. The data revealed one central theme, "From learning opportunity to conscious multidimensional change," and six subthemes. The transcultural nursing learning experience is not a simple or linear process. Instead, it appears to be a complex process formed by the interaction between a) self-awareness, b) reflective thinking, c) Cultural Encounters, d) cultural skills, e) Cultural Desire, and f) Cultural Knowledge. CONCLUSIONS: Transcultural nursing learning is a multifaceted process that arises from specific learning opportunities. This process is still to evolving. Therefore, specific educational strategies should be implemented to encourage attitudinal change and promote reflective thinking.

3.
BMC Vet Res ; 16(1): 271, 2020 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-32758240

RESUMO

BACKGROUND: Mycoplasma synoviae (MS) is known to cause Eggshell Apex Abnormality (EAA) syndrome characterized by an altered shell surface with increased translucency on the apex. However, no large-scale studies have been conducted to obtain prevalence data of EAA and MS isolates associated to this syndrome. This manuscript reports the results of two field studies performed in the French poultry industry (2015-2017): focusing mainly on investigation of presence and prevalence of EAA in different types of laying hen flocks (phase 1), and isolation of MS strains from EAA-infected flocks (phase 2). RESULTS: The first survey included 77 farms of commercial layers in three French egg-production regions, hosting 40 flocks in alternative systems (ALT) and 56 in furnished cages (FC). Seven flocks (4 FC and 3 ALT) presented EAA clinical signs, giving a prevalence of 7.3% in this studied sample. A second independent field study was conducted to identify MS by in vitro cultivation and PCR in samples from 28 flocks with clinical signs of EAA. Different types of biological specimens were collected in EAA-affected flocks and submitted to the laboratory. M. synoviae was detected in 25/28 flocks, from both production systems (5/5 ALT and 20/23 FC). Detection of MS was significantly higher in tracheal swabs (59%) than in cloacal (10.5%), albumen (3.6%) and egg yolk (1.1%) swabs. It is worth to mention that attempts to clone MS from positive samples were often hampered by the presence of another Mycoplasma species, which showed fast growing behaviour in the selective media used in this study (Frey Medium 4 and Frey Medium 4 supplemented with erythromycin). The use of MALDI-TOF mass spectrometry in combination with next-generation sequencing (NGS) results allowed the identification of this fast growing mycoplasma as Mycoplasma pullorum, which was detected in 14 of the 25 (56%) MS-positive flocks. CONCLUSIONS: These results confirmed the presence of the EAA syndrome in MS-positive flocks of layers in France, reared in different regions and in different production systems (ALT and FC). Studies need to be conducted to test whether M. pullorum may influence the expression of clinical signs of EAA in MS-infected layer farms.


Assuntos
Casca de Ovo/anormalidades , Infecções por Mycoplasma/veterinária , Mycoplasma synoviae/isolamento & purificação , Mycoplasma/isolamento & purificação , Doenças das Aves Domésticas/microbiologia , Animais , Galinhas , Feminino , França , Mycoplasma/crescimento & desenvolvimento , Doenças das Aves Domésticas/epidemiologia
4.
Actas Dermosifiliogr ; 105(2): 178-85, 2014 Mar.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-24238328

RESUMO

INTRODUCTION: The prevalence of obesity has increased worldwide in recent years. Some authors have described skin conditions associated with obesity, but there is little evidence on the association between insulin levels and such disorders. OBJECTIVE: To describe the skin disorders present in overweight and obese patients and analyze their association with insulin levels. MATERIAL AND METHODS: The study included nondiabetic male and female patients over 6 years of age who were seen at our hospital between January and April 2011. All the patients were evaluated by a dermatologist, who performed a physical examination, including anthropometry, and reviewed their medical history and medication record; fasting blood glucose and insulin were also measured. The patients were grouped according to degree of overweight or obesity and the data were compared using analysis of variance or the χ(2) test depending on the type of variable. The independence of the associations was assessed using regression analysis. RESULTS: In total, 109 patients (95 adults and 13 children, 83.5% female) were studied. The mean (SD) age was 38 (14) years and the mean body mass index was 39.6±8 kg/m(2). The skin conditions observed were acanthosis nigricans (AN) (in 97% of patients), skin tags (77%), keratosis pilaris (42%), and plantar hyperkeratosis (38%). Statistically significant associations were found between degree of obesity and AN (P=.003), skin tags (P=.001), and plantar hyperkeratosis. Number of skin tags, AN neck severity score, and AN distribution were significantly and independently associated with insulin levels. CONCLUSIONS: AN and skin tags should be considered clinical markers of hyperinsulinemia in nondiabetic, obese patients.


Assuntos
Insulina/sangue , Sobrepeso/sangue , Sobrepeso/complicações , Dermatopatias/sangue , Dermatopatias/etiologia , Adolescente , Adulto , Idoso , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/sangue , Obesidade/complicações , Estudos Prospectivos , Adulto Jovem
5.
Annu Rev Food Sci Technol ; 15(1): 283-305, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38941492

RESUMO

Many physical, social, and psychological changes occur during aging that raise the risk of developing chronic diseases, frailty, and dependency. These changes adversely affect the gut microbiota, a phenomenon known as microbe-aging. Those microbiota alterations are, in turn, associated with the development of age-related diseases. The gut microbiota is highly responsive to lifestyle and dietary changes, displaying a flexibility that also provides anactionable tool by which healthy aging can be promoted. This review covers, firstly, the main lifestyle and socioeconomic factors that modify the gut microbiota composition and function during healthy or unhealthy aging and, secondly, the advances being made in defining and promoting healthy aging, including microbiome-informed artificial intelligence tools, personalized dietary patterns, and food probiotic systems.


Assuntos
Dieta , Microbioma Gastrointestinal , Envelhecimento Saudável , Estilo de Vida , Humanos , Microbioma Gastrointestinal/fisiologia , Probióticos , Envelhecimento
6.
Sci Rep ; 10(1): 2843, 2020 02 18.
Artigo em Inglês | MEDLINE | ID: mdl-32071371

RESUMO

Although, antibiotics are effective in the treatment of bovine mastitis, they do not address the regeneration of mammary glandular tissue and have been associated to the increment in antimicrobial resistance worldwide. Considering the necessity of alternative therapies for this disease of high economic impact and the reported regenerative and antibacterial effects of mesenchymal stem cell (MSCs), we evaluated the safety and efficacy of an allogenic MSC-based intramammary therapy in dairy cows with experimentally induced Staphylococcus aureus clinical mastitis. In a safety trial, heifers were inoculated intramammarily with a 2.5 × 107-suspension of bovine fetal AT-MSCs on experimental days 1 and 10. Animals were evaluated clinically on a daily basis during a 20-day experimental period and blood samples were collected for hemogram determination and peripheral blood leukocytes (PBLs) isolation. In an efficacy trial, Holstein Friesian cows were inoculated with S. aureus and treated intramammarily with vehicle (NEG; days 4 and 10), antibiotics (ATB; days 4 and 5) or a suspension of 2.5 × 107 AT-MSCs (MSC; days 4 and 5). Cows were clinically evaluated daily and milk samples were collected for somatic cell count (SCC) and colony forming units (CFU). Blood samples were collected for serum haptoglobin and amyloid A determination. Intramammary administration of two doses of bovine fetal AT-MSCs in healthy cows did not induce changes in clinical or hematological variables, and gene expression profiles in PBLs associated to activation (CD4, CD8, CD25, CD62L and CD69) and proinflammatory cytokines (CCL2, CCL5, IL2, CXCL3, IFNγ, and TNFα). Quarters of MSC group of cows had similar SCC log/mL in milk compared to infected quarters of ATB or NEG cows. However, quarters of MSC cows had lower CFU log/mL in milk compared to quarters of NEG cows. Intramammarily inoculation of repeated doses of 2.5 × 107 allogenic AT-MSCs did not induce clinical or immunological response in healthy cows. Moreover, MSC-intramammary treatment reduced bacterial count in milk of cows with S. aureus clinical mastitis compared to untreated cows. This work provides initial evidence for the safety and efficacy of an allogenic MSC-based intramammary therapy for the treatment of bovine mastitis.


Assuntos
Terapia Baseada em Transplante de Células e Tecidos , Mastite Bovina/terapia , Células-Tronco Mesenquimais/citologia , Infecções Estafilocócicas/terapia , Animais , Bovinos , Feminino , Lactação/fisiologia , Glândulas Mamárias Animais/microbiologia , Glândulas Mamárias Animais/patologia , Mastite Bovina/microbiologia , Mastite Bovina/patologia , Transplante de Células-Tronco Mesenquimais , Leite/microbiologia , Infecções Estafilocócicas/microbiologia , Infecções Estafilocócicas/patologia , Staphylococcus aureus/patogenicidade
7.
Biochim Biophys Acta Mol Basis Dis ; 1866(1): 165586, 2020 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-31678161

RESUMO

Propionic acidemia (PA) is a rare metabolic disease associated with mutations in genes encoding the α and ß subunits of the enzyme propionyl-CoA carboxylase. The accumulation of toxic metabolites results in mitochondrial dysfunction, increased reactive oxygen species production and oxidative damage, which have been associated with the disease pathophysiology. Clinical symptoms are heterogeneous and include cardiac complications, mainly cardiac dysfunction and arrhythmias, which are recognized as one of the major life-threatening manifestations in patients. We aimed to investigate the molecular mechanisms underlying the cardiac phenotype using a hypomorphic mouse model (Pcca-/-(A138T)) that recapitulates some biochemical and clinical characteristics of PA. We demonstrate that Pcca-/-(A138T) mice present with depressed cardiac function along with impaired cell contractility when compared to the wild-type mice. Cardiac dysfunction in Pcca-/-(A138T) mice was associated with lower systolic Ca2+ release ([Ca2+]i transients), impairment in the sarcoplasmic reticulum (SR) Ca2+ load and decreased Ca2+ re-uptake by SR-Ca2+ ATPase (SERCA2a). These functional changes correlated well with the depressed activity of SERCA2a, the elevated ROS levels and SERCA2a oxidation rate in cardiomyocytes isolated from Pcca-/-(A138T) mice. In addition, decreased SR-Ca2+ load in Pcca-/-(A138T) cardiomyocytes was associated with increased diastolic Ca2+ release. The increase in Ca2+ sparks, Ca2+ waves and spontaneous [Ca2+]i transients in Pcca-/-(A138T) cardiomyocytes could be responsible for the induction of ventricular arrhythmias detected in these mice. Overall, our results uncover the role of impaired Ca2+ handling in arrhythmias and cardiac dysfunction in PA, and identify new targets for the development of therapeutic approaches for this devastating metabolic disease.


Assuntos
Arritmias Cardíacas/metabolismo , Cálcio/metabolismo , Acidemia Propiônica/metabolismo , Animais , Sinalização do Cálcio/fisiologia , Citoplasma/metabolismo , Modelos Animais de Doenças , Masculino , Camundongos , Miócitos Cardíacos/metabolismo , Oxirredução , Estresse Oxidativo/fisiologia , Espécies Reativas de Oxigênio/metabolismo , Retículo Sarcoplasmático/metabolismo , ATPases Transportadoras de Cálcio do Retículo Sarcoplasmático/metabolismo
8.
Science ; 280(5370): 1753-7, 1998 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-9624053

RESUMO

Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.


Assuntos
Proteínas da Matriz Extracelular/genética , Perda Auditiva Neurossensorial/genética , Retinose Pigmentar/genética , Sequência de Aminoácidos , Animais , Moléculas de Adesão Celular/química , Mapeamento Cromossômico , Cromossomos Humanos Par 1 , Cóclea/química , Fator de Crescimento Epidérmico/química , Proteínas da Matriz Extracelular/química , Proteínas da Matriz Extracelular/fisiologia , Feminino , Fibronectinas/química , Mutação da Fase de Leitura , Expressão Gênica , Genes Recessivos , Glicosilação , Humanos , Laminina/química , Masculino , Dados de Sequência Molecular , Linhagem , Retina/química , Síndrome , Células Tumorais Cultivadas
10.
Int J Pediatr Otorhinolaryngol ; 73(1): 97-101, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19027181

RESUMO

OBJECTIVE: We conducted a pilot screening program to define the prevalence of non-syndromic deafness and establish the frequency of mutations in the GJB2 gene (Cx26) in a population of children with congenital deafness in Bogotá, Colombia. METHOD: From a cohort of 731 children in 8 institutions for the deaf, we identified 322 (44%) with presumed non-syndromic deafness. These were invited to a more detailed evaluation, but 46 chose not to participate. The remaining 276 individuals received a complete ophthalmological evaluation that was normal in 205 (74.3%) and showed salt and pepper retinopathy in 55 (19.9%) and other ocular abnormalities in 16 (5.8%). A comprehensive medical history, and a detailed physical examination were performed in the 205 children with normal ocular exam. Of these, 93 were found to have acquired deafness and/or associated anomalies and 112 (15.3% of the initial 731 children), non-syndromic deafness. The GJB2 gene was sequenced in these 112 individuals. RESULTS: Based on family history, 59.8% (67/112) of these cases had autosomal recessive non-syndromic sensorineural hearing loss and the remaining 40.2% (45/112) were sporadic, without apparent known cause. We identified three mutations in the GJB2 gene: 35delG, S199F, and 167delT, all of which have been previously reported in the literature, the variant M34T, and the polymorphism V27I. S199F was the most frequent mutation (17.9%), followed by 35delG (17.0%) and 167delT (0.4%). The mutations in the GJB2 gene were present in 50.7% of the autosomal recessive group and in 33.3% of the sporadic cases. CONCLUSIONS: Our pilot study showed that 15.3% of institutionalized deaf children in Bogotá have non-syndromic deafness and among them, the frequency of the S199F mutation was higher than reported in previous studies, whereas the frequency of the 35delG is similar to Caucasian populations. The fact that the S199F mutation was the most frequent allele in our study confirms the fact that the prevalence of GJB2 mutations depends on the ethnic origin. We emphasize the need to follow a strict protocol to identify bona fide cases of non-syndromic deafness among individuals with congenital hearing loss in order to identify the molecular basis of this condition.


Assuntos
Conexinas/genética , Surdez/epidemiologia , Surdez/genética , Testes Genéticos , Mutação/genética , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Colômbia , Conexina 26 , Surdez/congênito , Humanos , Projetos Piloto , Prevalência , Avaliação de Programas e Projetos de Saúde
11.
J Oral Rehabil ; 36(1): 18-25, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19207368

RESUMO

The aim of this study was to evaluate the effectiveness of physiotherapy to improve the head posture and reduce the signs of bruxism in a group of bruxist children. A single-blind randomized clinical trial was performed. All the subjects were 3- to 6-year old, had complete primary dentition, dental and skeletal class I occlusion and were classified as bruxist according to the minimal criteria of the ICSD for bruxism. For each child, a clinical, photographic and radiographic evaluation of the head and cervical posture were realized with standardized techniques. The children were randomized in an experimental (n = 13) and a control (n = 13) group. A physiotherapeutic intervention was applied to the children of the experimental group once a week, until 10 sessions were completed. Afterwards, the cephalogram and the clinical and photographic evaluation of the head posture were measured again. The data were analysed with the t-test and Mann-Whitney test. The subjects of the experimental group showed statistically significant improvement in the natural head posture. The physiotherapeutic intervention showed to be efficient to improve the head posture at the moment of measurement in the studied children. The relationship between bruxism and head posture, if exists, seems to be worthwhile to examine.


Assuntos
Conscientização , Bruxismo/reabilitação , Movimentos da Cabeça , Postura , Estudos de Casos e Controles , Cefalometria , Vértebras Cervicais/anatomia & histologia , Criança , Pré-Escolar , Feminino , Cabeça/anatomia & histologia , Humanos , Masculino , Modalidades de Fisioterapia , Método Simples-Cego , Estatísticas não Paramétricas , Resultado do Tratamento
12.
Int J Pediatr Otorhinolaryngol ; 126: 109594, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31344554

RESUMO

INTRODUCTION: Congenital defects affecting the auditory and visual capacity of newborns represent a public health problem as they result in substantial disability, directly impacting the quality of life of newborns and their families. OBJECTIVE: To evaluate risk factors associated with congenital defects that alter hearing or vision in newborns in the city of Bogotá between 2002 and 2016. METHOD: Data from the Bogotá Birth Defects Surveillance and Follow-up Program was used, which consolidated data regarding 167 ECLAMC study (Estudio Colaborativo Latino Americano de Malformaciones Congénitas, in spanish) variables in a case-control design to identify risk factors for birth defects after parents provided signed informed consent. Cases were defined as any newborn (alive or stillborn) with a weight greater than 500 g with any visual or hearing abnormality. Controls were defined as newborn in the same hospital and month with no birth defects. Groups were formed according to the case presentation as follows: isolated eye anomaly, isolated ear anomaly, polymalformative, syndromic, and teratogenic. RESULTS: In total, 402,657 births were reviewed, of which 968 cases had some congenital defects that alter hearing or vision. An association was found between the presence of defects and prematurity, as well as between syndromic cases and increasing maternal age. When comparing cases and controls with the risk of having a birth defect, multiparity had an odds ratio (OR) of 1.47 (95% CI: 1.27-1.71), acute respiratory infection had an OR of 2.41 (95% CI: 1.04-5.58), low maternal education level had an OR of 1.34 (95% CI:1.10-1.62), low paternal education had an OR of 1.42, (95% CI:1.17-1.73), manual labor in the maternal occupation had an OR of 1.31 (95% CI:1.03-1.67), and a history of congenital anomalies in the family had an OR of 1.55 (95% CI:1.19-2.00). CONCLUSION: This research allowed the identification of epidemiological data and significant risk factors for congenital defects that alter hearing or vision in the population of Bogotá.


Assuntos
Perda Auditiva/congênito , Transtornos da Visão/congênito , Estudos de Casos e Controles , Colômbia/epidemiologia , Feminino , Perda Auditiva/diagnóstico , Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Humanos , Recém-Nascido , Masculino , Razão de Chances , Vigilância em Saúde Pública , Estudos Retrospectivos , Fatores de Risco , Saúde da População Urbana/estatística & dados numéricos , Transtornos da Visão/diagnóstico , Transtornos da Visão/epidemiologia , Transtornos da Visão/etiologia
13.
Horm Res Paediatr ; 91(6): 357-372, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31319416

RESUMO

This update, written by authors designated by multiple pediatric endocrinology societies (see List of Participating Societies) from around the globe, concisely addresses topics related to changes in GnRHa usage in children and adolescents over the last decade. Topics related to the use of GnRHa in precocious puberty include diagnostic criteria, globally available formulations, considerations of benefit of treatment, monitoring of therapy, adverse events, and long-term outcome data. Additional sections review use in transgender individuals and other pediatric endocrine related conditions. Although there have been many significant changes in GnRHa usage, there is a definite paucity of evidence-based publications to support them. Therefore, this paper is explicitly not intended to evaluate what is recommended in terms of the best use of GnRHa, based on evidence and expert opinion, but rather to describe how these drugs are used, irrespective of any qualitative evaluation. Thus, this paper should be considered a narrative review on GnRHa utilization in precocious puberty and other clinical situations. These changes are reviewed not only to point out deficiencies in the literature but also to stimulate future studies and publications in this area.


Assuntos
Hormônio Liberador de Gonadotropina/uso terapêutico , Puberdade Precoce , Adolescente , Criança , Feminino , Humanos , Masculino , Puberdade Precoce/diagnóstico , Puberdade Precoce/tratamento farmacológico , Puberdade Precoce/patologia , Puberdade Precoce/fisiopatologia
14.
Genet Couns ; 19(4): 403-12, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-19239084

RESUMO

Providencia is a small island located in the Caribbean Ocean, northwest of Colombia with an unusually high frequency of individuals with hearing loss (5 in 1,000) is present. The hearing loss in the island was characterized as non-syndromic autosomal recessive deafness accounting for 47% (8/17) of the deaf population, Waardenburg Syndrome (deafness associated with pigmentary anomalies) for 29% (5/17), and the remaining 24% (4/17) are cases of sporadic non-syndromic deafness. For appropriate genetic counseling a complete pedigree of families with deaf individuals was constructed. The 35delG mutation in GJB2 gene, which encodes connexin 26 (Cx26), is responsible for the deafness observed in the 8 individuals with autosomal recessive non-syndromic hearing loss. The deaf individuals with Waardenburg Syndrome and the sporadic cases did not have this mutation. Therefore, we present here an atypical case of an isolated community with at least two different genetic etiologies for deafness: non-syndromic genetic deafness caused by the 35delG mutation in the GJB2 gene and deafness associated with Waardenburg Syndrome not related to GJB2. In a small and isolated population, it is feasible to assume that the deafness is caused by the same factor; however, Providencia is an atypical case. Therefore, it is extremely important to define the exact etiology of deafness in each case, since different etiologies require different genetic counseling.


Assuntos
Aberrações Cromossômicas , Deleção Cromossômica , Conexinas/genética , Análise Mutacional de DNA , Surdez/genética , Genes Recessivos/genética , Aconselhamento Genético , Genética Populacional , Síndrome de Waardenburg/genética , Adulto , Mapeamento Cromossômico , Colômbia , Conexina 26 , Diagnóstico Diferencial , Feminino , Efeito Fundador , Pool Gênico , Genótipo , Humanos , Masculino , Linhagem , Fenótipo
15.
Genet Couns ; 19(1): 15-27, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18564497

RESUMO

Usher Syndrome (US), an autosomal recessive disease, is characterized by retinitis pigmentosa (RP), vestibular dysfunction, and congenital sensorineural deafness. There are three recognized clinical types of the disorder. In order to improve genetic counseling for affected families, we conducted linkage analysis and DNA sequencing in 10 Colombian families with confirmed diagnosis of US (4 type I and 6 type II). Seventy-five percent of the US1 families showed linkage to locus USH1B, while the remaining 25% showed linkage to loci USH1B and USH1C. Among families showing linkage to USH1B we found two different mutations in the MYO7A gene: IVS42-26insTTGAG in exon 43 (heterozygous state) and R634X (CGA-TGA) in exon 16 (homozygous state). All six US2 families showed linkage to locus USH2A. Of them, 4 had c.2299delG mutation (1 homozygote state and 3 heterozygous); in the remaining 2 we did not identify any pathologic DNA variant. USH2A individuals with a 2299delG mutation presented a typical and homogeneous retinal phenotype with bilateral severe hearing loss, except for one individual with a heterozygous 2299delG mutation, whose hearing loss was asymmetric, but more profound than in the other cases. The study of these families adds to the genotype-phenotype characterization of the different types and subtypes of US and facilitates genetic counseling in these families. We would like to emphasize the need to perform DNA studies as a prerequisite for genetic counseling in affected families.


Assuntos
Dineínas/genética , Aconselhamento Genético , Ligação Genética/genética , Miosinas/genética , Mutação Puntual/genética , Síndromes de Usher/genética , Adolescente , Adulto , Idoso , Colômbia/epidemiologia , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miosina VIIa , Linhagem , Retinose Pigmentar/genética , Índice de Gravidade de Doença , Síndromes de Usher/epidemiologia
16.
J Hazard Mater ; 153(1-2): 28-36, 2008 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-17875366

RESUMO

In the present work activated carbons have been prepared from evergreen oak wood. Different samples have been prepared varying the concentration of the activating agent (H(3)PO(4)) and the treatment temperature. The yield of the process decreases with increasing phosphoric acid concentrations. Furthermore, high concentrations of activating agent lead to mainly mesoporous activated carbons to the detriment of the microporous texture. Treatment temperatures up to 450 degrees C lead to a progressive increase of the micro- and mesopore volumes. Values of specific surface area (S(BET)) as high as 1723 m(2) g(-1)have been obtained using appropriate phosphoric acid concentrations and treatment temperatures. The samples prepared have been successfully used in the removal of Zn(II) from aqueous solutions. From the adsorption kinetic data it may be stated that the equilibrium time is, in all cases, below 170 h. The adsorption process as a rule becomes faster as the mesopore volume and specific surface area of the samples increase. The adsorption isotherms in liquid phase point out that the adsorption capacity (n(0)(s)) and the affinity towards the solute (K(ci)) are higher for the sample showing the most developed mesoporous texture and surface area as well.


Assuntos
Carbono/química , Quercus , Poluentes Químicos da Água/química , Purificação da Água/métodos , Madeira , Zinco/química , Adsorção , Concentração de Íons de Hidrogênio , Soluções
17.
Nutr Hosp ; 23(2): 141-7, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18449450

RESUMO

OBJECTIVE: To assess the effect of a low protein diet (LPD) on renal function and metabolic control in three sub-groups of patients with type 2 diabetes those with or without nephropathy. RESEARCH DESIGN AND METHODS: A randomized clinical trial was conducted on 60 patients with type 2 diabetes in primary care -19 with normoalbuminuria, 22 with microalbuminuria, and 19 with macroalbuminuria-. All patients experienced a screening phase during the 3 months, and were designated according to percentages of daily caloric intake (e.g., carbohydrates 50%, fat 30%, and 20% of protein). After this period, they were randomly assigned to receive either LPD (0.6-0.8 g/kg per day) or normal protein diet (NPD) (1.0-1.2 g/kg per day) for a period of 4 months. Twenty nine patients received LPD and 31 received NPD. Primary endpoints included measures of renal function (UAER, serum creatinine and GFR) and glycemic control (fasting glucose and glycosylated hemoglobin A1c). RESULTS: Renal function improved among patients with macroalbuminuria who received LPD: UAER decreased (1,280.7 +/- 1,139.7 to 444.4 +/- 329.8 mg/24 h; p < 0.05) and GFR increased (56.3 +/- 29.0-74.2 +/- 40.4 ml/min; p < 0.05). In normoalbuminuric and microalbuminuric patients, there were no significant changes in UAER or GFR after either diet. HbA1c decreased significantly among microalbuminuric patients on both diets (LPD, 8.2 +/- 1.6-7.2 +/- 1.8%; p < 0.05; NPD, 8.8 +/- 1.9-7.1 +/- 0.8%; p < 0.05) and among macroalbuminuric patients who received NPD (8.1 +/- 1.8-6.9 +/- 1.6%; p < 0.05). CONCLUSIONS: A moderated protein restriction diet improved the renal function in patients with type diabetes 2 and macroalbuminuria.


Assuntos
Diabetes Mellitus Tipo 2/dietoterapia , Diabetes Mellitus Tipo 2/metabolismo , Dieta com Restrição de Proteínas , Rim/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Diabetes Mellitus Tipo 2/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
19.
Farm Hosp ; 32(6): 309-14, 2008.
Artigo em Espanhol | MEDLINE | ID: mdl-19232215

RESUMO

OBJECTIVE: To measure morbidity and the associated costs of depressive disorders (DD) in subjects who have had a stroke in a population treated by primary care settings under usual clinical practice conditions. METHOD: Cross-sectional, retrospective studies. Adult stroke patients with DD were included in the study, and treated by five primary care settings (PCS) during 2006. A comparative group was formed with the rest of non-DD patients. The main measurements taken were: age, sex, history/co-morbidity, Charlson index, clinical parameters and corresponding outpatient costs; drugs, diagnostic tests, referrals and visits. Multiple logistic regression analysis and ANCOVA were used to correct the models. RESULTS: A total of 2,566 stroke patients were assessed. 17.7% (95% CI, 16.2-19.2%) were identified as having DD; average age: 69.5 years (12.6); 57.2% of those were female. In the correction of the model, females (OR: 2.1), obesity (OR: 1.1) and neuropathy (OR: 2.2), were significantly associated with DD in stroke patients. The adjusted total costs of DD were higher in most components, euro 2,037.55 versus euro 1,498.24, p < 0.001. 73.4% of the total cost was drugs-derived. CONCLUSIONS: Prevalence of DD was higher in stroke patients, and was more associated with females, obesity and neuropathy. The patient cost is high and patients use more health resources.


Assuntos
Depressão/economia , Depressão/etiologia , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/economia , Adolescente , Adulto , Idoso , Custos e Análise de Custo , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Atenção Primária à Saúde , Estudos Retrospectivos , Adulto Jovem
20.
Farm Hosp ; 31(2): 101-5, 2007.
Artigo em Espanhol | MEDLINE | ID: mdl-17590118

RESUMO

OBJECTIVE: To study the impact of depressive disorders (DD) on health care expenditure and to measure associated comorbidity in patients in primary care settings (PCS) under normal clinical practice conditions. METHOD: A retrospective cohort study was carried out. The study cohort consisted of outpatients aged over 14 years of age with an established diagnosis of DD (ICPC; P76) treated in a PC health centre during 2004. A comparative cohort was formed with the remaining outpatients without DD, treated in that health centre. Main factors for calculation were: age, gender, history/comorbidity and health resource use and the corresponding outpatient costs; drugs, diagnostic tests, visits to specialists and PC physicians. Multiple logistic regression analysis and ANCOVA models were used in order to adjust costs and comorbidities between the cohorts of patients. RESULTS: A total of 64,072 subjects were assessed; 6,592 patients with DD [10.3% (CI: 8.2-12.4%), 74.5% (CI: 73.4%-75.6%) females]. DD outpatients displayed a higher number of episodes of comorbidities/year (mean +/- SD; 7.4 +/- 4.3 vs. 4.7 +/- 3.3, p < 0.0001) and global medical visits/patient/year (12.0 +/- 9.3 vs. 7.4 +/- 7.6, p < 0.0001). The main comorbidities associated to DD were neurological disorders [Odds ratio (95% CI); 2.1 (CI: 1.5-2.6), p < 0.0001], alcoholism [1.6 (CI: 1.3-1.9), p < 0.0001] and malignancies [1.3 (CI: 1.1-1.5), p < 0.0001]. DD were associated with significantly higher adjusted total costs; 1,083.8 euro (SEM; 8.4 euro) vs. 684.1 euro (3.4 euro), p < 0.0001. Higher costs were displayed for elderly patients. Sixty-two percent of the total cost was related to drugs. CONCLUSIONS: Prevalence of DD was higher, particularly in women. Following adjustment in accordance with comorbidity, age and sex, DD outpatients used more health care resources and implied higher costs. Higher costs were associated with age.


Assuntos
Assistência Ambulatorial/economia , Depressão/complicações , Depressão/economia , Custos de Cuidados de Saúde , Atenção Primária à Saúde , Adolescente , Adulto , Idoso , Estudos de Coortes , Custos e Análise de Custo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
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