A targeted association study of immunity genes and networks suggests novel associations with placental malaria infection

A large proportion of the death toll associated with malaria is a consequence of malaria infection during pregnancy, causing up to 200,000 infant deaths annually. We previously published the first extensive genetic association study of placental malaria infection, and here we extend this analysis considerably, investigating genetic variation in over 9,000 SNPs in more than 1,000 genes involved in immunity and inflammation for their involvement in susceptibility to placental malaria infection. We applied a new approach incorporating results from both single gene analysis as well as gene-gene interactionson a protein-protein interaction network. We found suggestive associations of variants in the gene KLRK1 in the single geneanalysis, as well as evidence for associations of multiple members of the IL-7/IL-7R signalling cascade in the combined analysis. To our knowledge, this is the first large-scale genetic study on placental malaria infection to date, opening the door for follow-up studies trying to elucidate the genetic basis of this neglected form of malaria.

Usage analysis of the Nursing Activities Score in two Spanish ICUS

The aim of this study was to analyze the discourse of health managers on aspects related to delay in tuberculosis diagnosis. This was a qualitative research study, conducted with 16 Family Health Unit managers. The empirical data were obtained through semi-structured interviews. The analysis was based on the theoretical framework of the French school of discourse analysis. According to the managers’ statements, the delay in tuberculosis diagnosis is related to patient and health service aspects. As for patient aspects, managers report fear, prejudice and lack of information as factors that may promote a delayed diagnosis. Regarding health service aspects, structural problems and lack of professional skills were reported. The discourse of managers should be considered to qualify tuberculosis control actions and to prevent delays in diagnosis.

Expansion of undergraduate courses in nursing: dilemmas and contradictions facing the labor market

We sought to analyze, from the perspective of professors and students, the reasons and consequences of the expansion of undergraduate courses in nursing, discussing the dilemmas and the contradictions confronting the labor market. It was a qualitative study with data obtained from focus groups, conducted in 18 undergraduate nursing courses in the state of Minas Gerais, during the period of February to October of 2011. The narratives were submitted to critical discourse analysis. The results indicated that the education of the nurse was permeated by insecurity as to the future integration into the labor market. The insecurity translates into dilemmas that referred to employability and the precariousness of the working conditions. In this context, employment in the family health strategy emerges as a mirage. One glimpses the need for a political agenda with the purpose of discussion about education, the labor market and the determinants of these processes.

The view of teachers on bullying and implications for nursing

Objective: To understand school bullying from the perspective of teachers and reflect about the possible actions of the health area when coping with it. The guidelines of the School Health Program of the Ministries of Health and Education were used to reach that purpose. Method: A qualitative study carried out with teachers of a public school in Minas Gerais. Focus groups were used to collect data and the empirical material was decoded from thematic analysis of content, resulting in an analytical category: conceptions and experiences of teachers on bullying. Results: Specific perceptions about the phenomenon and the use of ineffective intervention resources were identified. In the interpretive plan were problematized the health and nursing contributions with resizing the interventions and the continuing training process of teachers. Conclusion: The results point to the construction of intersectoral practices for coping with bullying.


Nursing performance in the policy transfer of directly observed treatment of tuberculosis

Objective Analyzing the policy transfer of directly observed treatment of tuberculosis from the perspective of nursing. Method This is a descriptive study with qualitative approach, which had 10 nurses of the Family Health Strategy in São Paulo as subjects. The interviews were carried out between May and June 2013, and were adopted the technique of thematic content analysis and the referential of policy transfer. Results On the signification of this treatment, are related the senses of disciplinary monitoring, the bond and approximation to the context of patients’ lives. Operationally, nurses, community health agents and nursing technicians stand out as agents of implementation of this policy, developing multiple actions of user embracement. The nurse is evidenced as an educator in health, leader in the family health team, and capable of creating emotional bond with users. Conclusion It was found that the innovations proposed in the treatment are incipient in the daily work of nurses.

Evaluation of professional knowledge and attitudes on dementia patient care: a trans-cultural adaptation of an evaluation instrument

Objective To describe the trans-cultural adaptation of the evaluation instrument entitled Atenció Sanitària de Les Demències: la visió de L' Atenció Primarià from Catalan into versions in Portuguese for doctors and nurses. This study evaluates the knowledge and perspectives of these professionals in their treatment of patients diagnosed with dementia in cases of primary care. Method The adaptation followed internationally accepted rules, which include the following steps: translation, synthesis, back-translation, revision by a committee of specialists, and a test run with 35 practicing doctors and 35 practicing nurses in Brazil's Family Health Strategy (Estratégia Saúde da Família, or ESF in Portuguese). Results The translation, synthesis, and back-translation steps were performed satisfactorily; only small adjustments were required. The committee of specialists verified the face validity in the version translated into Portuguese, and all of the items that received an agreement score lower than 80% during the initial evaluation were revised. In the test run, the difficulties presented by the health care professionals did not reach 15% of the sample, and therefore, no changes were made. Conclusion The Portuguese translation of the instrument can be considered semantically, idiomatically, culturally, and conceptually equivalent to the original Catalan version and is, therefore, appropriate for use in Brazil.

Adherence to nutritional recommendations and sociodemographic variables in patients with diabetes mellitus

OBJECTIVETo determine if there is a relationship between adherence to nutritional recommendations and sociodemographic variables in Brazilian patients with type 2 diabetes mellitus.METHODSCross-sectional observational study using a stratified random sample of 423 individuals. The Food Frequency Questionnaire (FFQ) was used, and the Fisher's exact test was applied with 95% confidence interval (p<0.05).RESULTSOf the 423 subjects, 66.7% were women, mean age of 62.4 years (SD = 11.8), 4.3 years of schooling on average (SD = 3.6) and family income of less than two minimum wages. There was association between the female gender and adherence to diet with adequate cholesterol content (OR: 2.03; CI: 1.23; 3.34), between four and more years of education and adherence to fractionation of meals (OR: 1 92 CI: 1.19; 3.10), and income of less than two minimum wages and adherence to diet with adequate cholesterol content (OR: 1.74; CI: 1.03, 2.95).CONCLUSIONAdherence to nutritional recommendations was associated with the female gender, more than four years of education and family income of less than two minimum wages.

Welcome To Medicare Physical Exam, September 2007

Medicare will cover a one-time preventive physical exam within the first six months that you have Part B. This benefit is for all Medicare beneficiaries including those under age 65. How much does the exam cost? You pay 20% of the Medicare approved amount after you meet the yearly Part B deductible ($131 for 2007). Since this exam may be your first Medicare-covered service, you could meet your entire Part B deductible for the year. Medicare will cover the exam if performed by a physician, physician assistant, nurse practitioner, or clinical nurse specialist. What should I expect during the exam? The “Welcome to Medicare Physical” will include the following: 1. A review of your medical and social history. 2. A review of your potential risk factors for depression. 3. A review of your functional ability and level of safety. 4. Blood pressure, height, weight and vision test 5. An electrocardiogram (EKG) 6. Education and counseling on the above five items. 7. A written plan explaining screenings and other recommended preventive services. All seven elements must be documented in order for the physical to be covered by Medicare. The exam does not include clinical laboratory tests. Medicare will pay for a one-time ultrasound screening for abdominal aortic aneurysms for beneficiaries who are at risk (has a family history or a man age 65 to 75 who has smoked at least 100 cigarettes in his lifetime.) Only Medicare beneficiaries who receive a referral from the Welcome to Medicare physical exam will be covered for this benefit. There is no Part B deductible, but you or your supplemental insurance will be responsible for the coinsurance. What should I take to the exam? You should bring the following when you go to your “Welcome to Medicare” physical exam: • Medical records, including immunization records (if you are seeing a doctor for the first time) • Family health history • A list of current prescription drugs, how often you take them, and why.

Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.

CONTEXT: Many inherited disorders of calcium and phosphate homeostasis are unexplained at the molecular level. OBJECTIVE: The objective of the study was to identify the molecular basis of phosphate and calcium abnormalities in two unrelated, consanguineous families. PATIENTS: The affected members in family 1 presented with rickets due to profound urinary phosphate-wasting and hypophosphatemic rickets. In the previously reported family 2, patients presented with proximal renal tubulopathy and hypercalciuria yet normal or only mildly increased urinary phosphate excretion. METHODS: Genome-wide linkage scans and direct nucleotide sequence analyses of candidate genes were performed. Transport of glucose and phosphate by glucose transporter 2 (GLUT2) was assessed using Xenopus oocytes. Renal sodium-phosphate cotransporter 2a and 2c (Npt2a and Npt2c) expressions were evaluated in transgenically rescued Glut2-null mice (tgGlut2-/-). RESULTS: In both families, genetic mapping and sequence analysis of candidate genes led to the identification of two novel homozygous mutations (IVS4-2A>G and R124S, respectively) in GLUT2, the gene mutated in Fanconi-Bickel syndrome, a rare disease usually characterized by renal tubulopathy, impaired glucose homeostasis, and hepatomegaly. Xenopus oocytes expressing the [R124S]GLUT2 mutant showed a significant reduction in glucose transport, but neither wild-type nor mutant GLUT2 facilitated phosphate import or export; tgGlut2-/- mice demonstrated a profound reduction of Npt2c expression in the proximal renal tubules. CONCLUSIONS: Homozygous mutations in the facilitative glucose transporter GLUT2, which cause Fanconi-Bickel syndrome, can lead to very different clinical and biochemical findings that are not limited to mild proximal renal tubulopathy but can include significant hypercalciuria and highly variable degrees of urinary phosphate-wasting and hypophosphatemia, possibly because of the impaired proximal tubular expression of Npt2c.

Tuki- ja liikuntaelimistön kehityksen huomioiminen alle 3-vuotiaan lapsen ravitsemuksessa. Osa 1: Teemapäivä vanhemmille ja terveydenhoitajille. Pieni ruokakirja. Osa 2: opaslehtinen pienten lasten vanhemmille

Opinnäytetyömme on kaksiosainen, ja se on osa lapsiperheiden terveyden edistämisen projektia, jossa Helsingin ammattikorkeakoulu Stadia on osallisena. Ensimmäisen työn aiheena oli Haagan terveysasemalla järjestettävä teemapäivä, jonka kohderyhmänä olivat lastenneuvolassa asioivat vanhemmat sekä neuvolan terveydenhoitajat. Tarkoituksena oli lisätä vanhempien tietoa alle 3-vuotiaan lapsen ravitsemuksesta ja sen vaikutuksesta tuki- ja liikuntaelimistön kehitykselle. Opinnäytetyömme toinen osa perustuu ensimmäisen työn pohjalta nousseeseen tarpeeseen tehdä terveydenhoitajille konkreettinen apuväline vanhemmille suunnattuun ravitsemusohjaukseen. Työn tarkoituksena on välittää tietoa lapsiperheiden ruokailutottumuksista pienten lasten vanhemmille. Suunnittelemme ja toteutamme vanhemmille suunnatun opaslehtisen, jotta heillä olisi helposti käytettävissään olevaa tietoa lasten ravitsemuksesta ja vinkkejä arkipäivän ruokailutilanteisiin. Opaslehtisen sisältö pohjautuu osittain ensimmäisen opinnäytetyön teoriaosuuteen, jossa käsiteltiin lapsen terveellistä kehitystä tukevaa ravitsemusta, perheiden ruokailutottumuksia sekä ravitsemukseen liittyviä uhkatekijöitä. Sisällön suunnittelussa käytimme lisäksi apuna uusinta tutkimustietoa lapsen ravitsemuksesta sekä terveysaineistolle laadittuja laatukriteereitä hyvän lopputuloksen varmistamiseksi. Halusimme tuottaa helposti lähestyttävän ja selkokielisen käytännön oppaan jokapäiväiseen käyttöön. Sisältöaiheiksi valitsimme lasten ravitsemukseen liittyviä keskeisiä asioita: alle 3-vuotiaan lapsen ravitsemus, perheen ruokailutottumukset, ruokareseptejä ja vinkkejä päivittäiseen ruoanvalmistukseen. Opaslehtisen nimenä on ”Pieni ruokakirja - Opaslehtinen pienten lasten vanhemmille”. Opaslehtinen soveltuu terveysasemien käyttöön ja siitä on todellista hyötyä monille lapsiperheille sekä terveydenhoitajille työssään.

Female genital mutilation in Switzerland: a survey among gynaecologists.

QUESTION UNDER STUDY: To evaluate the situation of Female Genital Mutilation (FGM) in Switzerland. METHODS: Through a questionnaire, Swiss gynaecologists were asked if they have been confronted to FGMs, if they have been asked to perform infibulations and FGMs. The health representatives (Kantonsärzte/médecins cantonaux) were interviewed on FGM activity at the Canton level. Swiss Medical Schools were asked if FGM was included in the pregraduate curriculum, and an estimated prevalence rate for FGMs in Switzerland was gathered. RESULTS: Among Swiss gynaecologists, 20% reported having been confronted with patients presenting with FGM and among them 40% had been asked about reinfibulation. Gynaecologists are occasionally asked about the possibility of performing FGMs in Switzerland. No activity concerning FGM is reported by health authorities in the Cantons. Teaching about FGM is not included in the curriculum of any of the Swiss medical schools. Approximately 6,700 girls at risk and women who have undergone FGM live in Switzerland. CONCLUSION: The extent to which gynaecologists are confronted to women with FGM may justify further action to try to better understand the situation in Switzerland. Improvement of care by better education of health care providers (guidelines) and prevention of new cases by women's education should also be considered.

A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.

BACKGROUND: Mutations in SCN4A may lead to myotonia. METHODS: Presentation of a large family with myotonia, including molecular studies and patch clamp experiments using human embryonic kidney 293 cells expressing wild-type and mutated channels. RESULTS: In a large family with historic data on seven generations and a clear phenotype, including myotonia at movement onset, with worsening by cold temperature, pregnancy, mental stress, and especially after rest after intense physical activity, but without weakness, the phenotype was linked with the muscle sodium channel gene (SCN4A) locus, in which a novel p.I141V mutation was found. This modification is located within the first transmembrane segment of domain I of the Na(v)1.4 alpha subunit, a region where no mutation has been reported so far. Patch clamp experiments revealed a mutation-induced hyperpolarizing shift (-12.9 mV) of the voltage dependence of activation, leading to a significant increase (approximately twofold) of the window current amplitude. In addition, the mutation shifted the voltage dependence of slow inactivation by -8.7 mV and accelerated the entry to this state. CONCLUSIONS: We propose that the gain-of-function alteration in activation leads to the observed myotonic phenotype, whereas the enhanced slow inactivation may prevent depolarization-induced paralysis.

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

PURPOSE: To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene. METHODS: Forty-one individuals of five families of Caribbean (family A), British (families B, D, E), and Italian (family C) origin, segregating the R373C mutation in PROM1, were ascertained. Electrophysiological assessment, fundus autofluorescence (FAF) imaging, fundus fluorescein angiography (FFA), and optical coherence tomography (OCT) were performed in available subjects. Mutation screening of PROM1 was performed. RESULTS: The R373C mutant was present heterozygously in all affected patients. The age at onset was variable and ranged between 9 and 58 years, with most of the individuals presenting with reading difficulties. Subjects commonly had a mild to moderate reduction in visual acuity except for members of family C who experienced markedly reduced central vision. The retinal phenotype was characterized by macular dystrophy, with retinal pigment epithelial mottling in younger subjects, progressing to typical BEM over time, with the development of macular atrophy in older patients. In addition, all members of family C had typical features of RP. The electrophysiological findings were variable both within and between families. CONCLUSIONS: Mutations in PROM1 have been described to cause a severe form of autosomal recessive RP in two families of Indian and Pakistani descent. The results of this study have demonstrated that a distinct redundant PROM1 mutation (R373C) can also produce an autosomal dominant, fully penetrant retinopathy, characterized by BEM with little inter- and intrafamilial variability, and retinal dystrophy with variable rod or rod-cone dysfunction and marked intra- and interfamilial variability, ranging from isolated maculopathy without generalized photoreceptor dysfunction to maculopathy associated with very severe rod-cone dysfunction.

The Update, January 26, 2009

The Update is a bi-weekly web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It is posted the second and fourth week of every month, and provides useful job resource information for departmental health care professionals, information on training opportunities, intradepartmental reports and meetings, and additional information pertinent to health care professionals.

The Update, October 12, 2009

The Update is a bi-weekly web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It is posted the second and fourth week of every month, and provides useful job resource information for departmental health care professionals, information on training opportunities, intradepartmental reports and meetings, and additional information pertinent to health care professionals.