How Diet and Lifestyle Can Fine-Tune Gut Microbiomes for Healthy Aging.

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.

From a learning opportunity to a conscious multidimensional change: a metasynthesis of transcultural learning experiences among nursing students.

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.

Developing the better and effective nursing education for improving transcultural nursing skills cultural competence and cultural sensitivity assessment tool (BENEFITS-CCCSAT).

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.

Investigation on eggshell apex abnormality (EAA) syndrome in France: isolation of Mycoplasma synoviae is frequently associated with Mycoplasma pullorum.

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.

Safety and efficacy of a mesenchymal stem cell intramammary therapy in dairy cows with experimentally induced Staphylococcus aureus clinical mastitis.

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.

Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia.

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.

Risk factors associated with congenital defects that alter hearing or vision in children born in the city of Bogotá between 2002 and 2016.

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.

Use of Gonadotropin-Releasing Hormone Analogs in Children: Update by an International Consortium.

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.

Teamwork: relevance and interdependence of interprofessional education.

OBJECTIVE: Determine the perception of university students regarding interprofessional and interdependent work between team members in their inclusion in primary care. METHODS: Analytical cross-sectional study. The sampling had a probabilistic, stratified random type with 95% confidence and 5% margin of error. Seven-hundred and four students of Public Universities in Santiago (Chile) answered self-administered questionnaire. RESULTS: Ninety-seven point eight of students say that interprofessional work is important; 27.1% of them declare that their university did not seem to show that their study plans were important. The professionals listed as most important in teams are physicians and nurses. CONCLUSIONS: Spaces for development and institutional support are key elements to promote interprofessional work. If this competence can involve each academic unit in their different formative spaces there will be a significant contribution to said promotion. Teamwork is a pending task. OBJETIVO: Determinar la percepción de estudiantes universitarios respecto al trabajo interprofesional e interdependencia entre los miembros del equipo en su inserción en la atención primaria. MÉTODOS: Estudio de tipo analítico y transversal. El muestreo fue de tipo aleatorio, probabilístico estratificado con un 95% de confianza y un 5% de margen de error. Se utilizó un cuestionario auto-administrado en 704 estudiantes de Universidades del Estado en Santiago de Chile. RESULTADOS: Un 97,8% de los estudiantes opinan que el trabajo interprofesional es importante; un 27,1% de ellos declara que su universidad no le ha entregado importancia en sus planes de estudios. Los profesionales mencionados como más importantes en el equipo son los médicos y enfermeras. CONCLUSIONES: Espacios de desarrollo y respaldo institucional son elementos claves para promover el trabajo interprofesional. Que esta competencia logre involucrar a cada unidad académica en sus diferentes espacios formativos será un aporte significativo en aquello. Trabajo en equipo es una tarea pendiente.

Trabajo en equipo: relevancia e interdependencia de la educación interprofesional / Teamwork: relevance and interdependence of interprofessional education

La educación médica se ha enfocado, históricamente, en el desempeño individual de los profesionales de la salud. Sin embargo, ante los cambios en el foco, estructura y necesidades de los sistemas de atención en salud, el foco se ha redirigido hacia el trabajo en equipo. Esta concepción implica una acción coordinada, llevada a cabo por dos o más individuos, lo que implica metas acordadas en conjunto, y exige entendimiento claro y respeto de los roles y las funciones de cada miembro. El trabajo en equipo, más que un fin, es un proceso y requiere la habilidad de trabajar como colegas, en vez de superior-subordinado. En este sentido, se entiende por multiprofesionalismo al trabajo común realizado por profesionales de las diferentes categorías, en las que su contribución individual conduce a un producto final que satisface los requerimientos únicos de cada parte en la solución de los problemas identificados. Tanto la construcción colectiva del trabajo a realizar por el equipo multidisciplinario cuanto las posibilidades de incorporar la atención a las prácticas profesionales, indican la necesidad de identificar y desarrollar dimensiones comunicativas en los sujetos involucrados en el cuidado (trabajadores y usuarios). Los equipos multidisciplinarios deben superar los acuerdos y articulaciones centradas solo en las relaciones. La Organización Mundial de la Salud señala que la práctica colaborativa optimiza los resultados de la atención en salud entregando una atención integral a los pacientes, sus familias, cuidadores y comunidades. Los profesionales preparados para la práctica colaborativa han aprendido a trabajar en un equipo interprofesional mediante entrenamiento efectivo en educación interprofesional; esta educación ocurre cuando estudiantes de dos o más profesiones aprenden sobre, de y entre ellos mismos para permitir una colaboración efectiva. (AU)

Prevalence of gestational diabetes and risk of complications before and after initiation of a general systematic two-step screening strategy in Germany (2012-2014).

AIMS: Information on the prevalence of gestational diabetes mellitus is scarce on national and international level. On July 1st, 2013, a general two-step screening was implemented in Germany harmonizing gestational diabetes diagnoses. We aim to provide prevalence estimates for gestational diabetes and pregnancy-related complications for the large region of North Rhine for the 12 months before and after introduction of the general screening. METHODS: Routine care data covering all outpatient diagnoses of more than 150,000 pregnancies per 12-month period in women aged 15-55 years was used to determine cases of gestational diabetes. Gestational diabetes diagnosis and pregnancy-related complications were assessed according to the International Statistical Classification of Diseases and Related Health Problems (ICD-10). Relative Risks for pregnancy-related complications were calculated in pregnancies with and without gestational diabetes. RESULTS: Before the screening, diagnosis of gestational diabetes was made in 6.02% of pregnancies and in 6.81% after this date (other types of diabetes mellitus: 1.67% and 1.76% respectively). The prevalence of GDM increased with age and was highest at age 36-40 years (8.45%). The relative increase in prevalence after introduction of the screening was highest in the age group≤25 years (24.9%). The frequency of pregnancy-related complications such as hypertension, pre-eclampsia, cesarean section was increased in pregnancies with gestational diabetes in comparison to those without independent of observation period. CONCLUSIONS: We found a high prevalence of gestational diabetes, which has relatively increased by 13.12% after the introduction of the general screening.

Skin disorders in overweight and obese patients and their relationship with insulin.

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.

Influence of combinations of drugs that act on the CYP2D6 metabolic pathway in the treatment of major depressive disorder: a population-based study.

OBJECTIVE: To describe the frequency of drug combinations (substrate-substrate or substrate-inhibitor) with the potential to interfere with the CYP2D6 metabolic pathway in patients receiving antidepressant medication for major depressive disorder. METHODS: We carried out an observational study using outpatient medical records. We included adult subjects who initiated antidepressant medication during 2008-2010. Patients were assigned to three study groups: no combination, substrate-substrate, and substrate-inhibitor. Follow-up period was 12 months. MAIN MEASURES: demographics, comorbidity and medication persistence. Statistical analysis included a logistic regression model, P<0.05. RESULTS: Five thousand six hundred and thirty patients were recruited (61.9 years, 76.9% female), 24.4% (CI: 23.8 - 26.0%) received some kind of drug combination (substrate-substrate: 15.4%, substrate-inhibitor: 9.0%). Variables significantly associated with drugs combinations that may act on the CYP2D6 metabolic pathway were: dementia (OR=4.2), neuropathy (OR=4.2) and stroke (OR=1.9), P<0.001. Medication persistence at 12 months was longer in patients with no combination (55.3%) than in patients receiving substrate-substrate (50.5%) or substrate-inhibitor (45.0%) combinations, P<0.001. CONCLUSIONS: Twenty-five percent of major depressive disorder patients received a combination of drugs with the potential to interfere with CYP2D6 metabolic pathway. These combinations increased with comorbidity and resulted in shorter medication persistence of antidepressant treatment.

C-reactive protein as a marker of cardiovascular disease in patients with a schizophrenia spectrum disorder treated in routine medical practice.

OBJECTIVE: Interest in cardiovascular diseases (CVD) in schizophrenia has grown recently due to documented incremental mortality. C-reactive protein (CRP) has been assessed as a marker in individuals with CVD and/or at high risk of developing it. However, its role in schizophrenia patients is unknown. The goal of this research was thus to explore the use of CRP as a marker of CVD risk in patients with schizophrenia. METHODS: A cross-sectional analysis of the Badalona Serveis Assistencials (BSA) administrative claims database was conducted including all subjects aged>18 years with a diagnosis of schizophrenia spectrum disorder. CRP measurement, sociodemographics, medical history, 10-year CVD risk (Framingham function) and clinical chemistry data were extracted for analysis. RESULTS: Seven hundred and five patients (53.0% men, 48.2 [15.8] years, 78.7% on atypicals) met criteria for analysis. Mean 10-year CVD risk was high; 11.9±5.7% and mean CRP levels were 2.6±2.5 mg/L with 30.4% showing above-normative levels (>3 mg/L). After adjusting for age, gender, smoking and presence of neoplasm or inflammatory diseases, CRP was linearly associated with 10-year CVD risk stratified by risk (low, moderate, high/very high): respectively, 2.3 (95% CI: 2.1-2.5), 3.1 (2.6-3.5) and 3.7 (3.2-4.1) mg/L; F=13.5, P<0.001. Patients with known CVD also showed higher CRP levels: 3.7 (2.9-4.5) vs. 2.5 (2.4-2.7) mg/L, P=0.008; and higher probability of above-normal values; odds ratio=4.71 (2.01-11.04), P<0.001. CONCLUSIONS: High CRP levels above normative were associated with both known CVD and high/very high 10-year risk of a CVD event in patients with schizophrenia, suggesting CRP could be a marker of CVD in this psychiatric disorder.

Effect of awareness through movement on the head posture of bruxist children.

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.

Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program.

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.

Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.

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.

Effect of protein restriction diet on renal function and metabolic control in patients with type 2 diabetes: a randomized clinical trial.

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.