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1.
J Cancer Res Clin Oncol ; 149(11): 8393-8402, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37079052

RESUMO

PURPOSE: For patients with a cancer diagnosis, coping abilities are of high importance. Cancer patients with a high sense of coherence may cope better. The purpose of this study is to learn more about the correlation of sense of coherence and different aspects, such as demographics, psychological factors, lifestyle, complementary and alternative medicine (CAM) and lay aetiology. METHODS: A prospective cross-sectional study was performed in ten cancer centres in Germany. The questionnaire consisted of ten sub-items, collecting information about sense of coherence, demographics, general life satisfaction, resilience, spirituality, self-efficacy, physical activity and sports, nutrition, CAM methods and cancer causes. RESULTS: As many as 349 participants were evaluable. The mean sense of coherence score was M = 47.30. Significant associations were shown for sense of coherence and financial situation (r = 0.230, p < 0.001), level of education (r = 0.187, p < 0.001), marital status (η = 0.177, p = 0.026) and time interval since diagnosis (r = - 0.109, p = 0.045). Sense of coherence and resilience correlated on a high level, as well as spirituality, self-efficacy and general life satisfaction (r = 0.563, r = 0.432, r = 0.461, r = 0.306, p's < 0.001). CONCLUSION: Several aspects, such as demographics and psychological factors, have a great influence on the sense of coherence. To help patients to cope better, physicians should try to strengthen sense of coherence, resilience and self-efficacy and, at the same time, consider patients' individual background such as level of education, financial capacity and emotional support by family members.


Assuntos
Terapias Complementares , Senso de Coerência , Humanos , Estudos Transversais , Estudos Prospectivos , Qualidade de Vida/psicologia , Estilo de Vida , Inquéritos e Questionários
2.
Clin Exp Med ; 21(2): 297-313, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33496846

RESUMO

Zinc is a trace element that plays an important role in the immune system and cell growth. The role of zinc in cancer treatment has been discussed for some time, however without reaching an evidenced-based consensus. Therefore, we aim to critically examine and review existing evidence on the role of zinc during cancer treatment. In January 2019, a systematic search was conducted searching five electronic databases (Embase, Cochrane, PsychINFO, CINAHL and PubMed) to find studies concerning the use, effectiveness and potential harm of zinc therapy on cancer patients. Out of initial 5244 search results, 19 publications concerning 23 studies with 1230 patients were included in this systematic review. The patients treated with zinc were mainly diagnosed with head and neck cancer and underwent chemo-, radio- or concurrent radio-chemotherapy. Interventions included the intake of different amounts of zinc supplements and oral zinc rinses. Outcomes (primary endpoints) investigated were mucositis, xerostomia, dysgeusia, pain, weight, dermatitis and oral intake of nutrients. Secondary endpoints were survival data, quality of life assessments and aspects of fatigue, immune responses and toxicities of zinc. The studies were of moderate quality reporting heterogeneous results. Studies have shown a positive impact on the mucositis after radiotherapy. No protection was seen against mucositis after chemotherapy. There was a trend to reduced loss of taste, less dry mouth and oral pain after zinc substitution. No impact was seen on weight, QoL measurements, fatigue, and survival. The risk of side effects from zinc appears to be relatively small. Zinc could be useful in the prevention of oral toxicities during irradiation. It does not help in chemotherapy-induced side effects.


Assuntos
Terapias Complementares , Neoplasias/tratamento farmacológico , Zinco/uso terapêutico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Disgeusia/tratamento farmacológico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mucosite/tratamento farmacológico , Neoplasias/mortalidade , Neoplasias/psicologia , Qualidade de Vida , Xerostomia/tratamento farmacológico , Adulto Jovem , Zinco/efeitos adversos
3.
J Appl Microbiol ; 129(5): 1297-1308, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32463948

RESUMO

AIMS: To evaluate the ability of the haloarchaeon Haloferax volcanii to produce Ag and Au nanoparticles (NPs) and to characterize the obtained material in order to find relevant properties for future potential applications. METHODS AND RESULTS: Nanoparticles were produced by incubating H. volcanii cells with the corresponding metal salt. In the presence of precursor salts, cultures evidenced a colour change associated to the formation of metallic nanostructures with plasmonic bands located in the visible range of the spectrum. X-ray fluorescence analysis confirmed the presence of Ag and Au in the NPs which were spherical, with average sizes of 25 nmol l-1 (Ag) and 10 nmol l-1 (Au), as determined by electronic microscopy. Fourier transformed infrared spectroscopy indicated that both types of NPs showed a stable protein capping. Ag NPs evidenced antibacterial activity and Au NPs improved the specificity of polymerase chain reaction reactions. Au and Ag NPs were able to reduce 4-nitrophenol when incubated with NaBH4 . CONCLUSIONS: Haloferax volcanii is able to synthesize metallic NPs with interesting properties for technological applications. SIGNIFICANCE AND IMPACT OF THE STUDY: Our data demonstrate the ability of H. volcanii to synthesize metal NPs and constitutes a solid starting point to deepen the study and explore novel applications.


Assuntos
Ouro/metabolismo , Haloferax volcanii/metabolismo , Nanopartículas Metálicas/microbiologia , Prata/metabolismo , Antibacterianos/biossíntese , Antibacterianos/química , Antibacterianos/farmacologia , Boroidretos/metabolismo , Ouro/química , Ouro/farmacologia , Nanopartículas Metálicas/química , Nitrofenóis/metabolismo , Tamanho da Partícula , Prata/química , Prata/farmacologia
4.
Seizure ; 77: 86-92, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31375336

RESUMO

OBJECTIVE: The neuropsychological outcome of pediatric epilepsy surgery has been reported before, but only few studies compared different major types of surgery in differentially located epilepsies. METHODS: Neuropsychological performance of 306 children and adolescents (ages 6-17 years) were assessed before and one year after epilepsy surgery. Individual impairments, changes into and out of impairment, as well as intraindividually meaningful positive or negative changes were examined. Regression analyses addressed the effects of site, side, pathology, type of surgery, seizure outcome, and drug change on the cognitive and behavioral domains. RESULTS: Preoperatively 85% of the patients had cognitive impairments in at least one domain, 71% had behavioral problems. Postoperatively the number of impaired patients dropped considerably: 21-50% of the patients changed from impaired to unimpaired, individually significant gains were registered in 16-42%. Seizure freedom was achieved in 81% of all patients. The number of antiepileptic drugs decreased significantly. Seizure freedom, a younger age at evaluation, a later age at onset, a lower antiepileptic drug load, and less baseline damage predict better cognitive and behavioral outcomes. Gender, pathology, localization, and lateralization had little or no impact. CONCLUSION: Differentially located and lateralized epilepsies hardly differed in cognition and behavior indicating nonspecific developmental rather than domain specific impairments. Childhood epilepsy surgery is very successful and the functional improvements one year after surgery confirm the general relevance of baseline damage, mental reserve capacities, functional plasticity, the preservation of functional tissues and the functional release due to seizure freedom and drug load reduction.


Assuntos
Sintomas Comportamentais/cirurgia , Disfunção Cognitiva/cirurgia , Epilepsia/cirurgia , Avaliação de Resultados em Cuidados de Saúde , Adolescente , Sintomas Comportamentais/etiologia , Criança , Disfunção Cognitiva/etiologia , Epilepsia/complicações , Feminino , Seguimentos , Humanos , Masculino
5.
Clin Microbiol Infect ; 25(3): 380.e9-380.e16, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29906596

RESUMO

OBJECTIVES: Hospital-based surveillance of influenza and acute respiratory infections relies on International Classification of Diseases (ICD) codes and hospital laboratory reports (Standard-of-Care). It is unclear how many cases are missed with either method, i.e. remain undiagnosed/coded as influenza and other respiratory virus infections. Various influenza-like illness (ILI) definitions co-exist with little guidance on how to use them. We compared the diagnostic accuracy of standard surveillance methods with a prospective quality management (QM) programme at a Berlin children's hospital with the Robert Koch Institute. METHODS: Independent from routine care, all patients fulfilling pre-defined ILI-criteria (QM-ILI) participated in the QM programme. A separate QM team conducted standardized clinical assessments and collected nasopharyngeal specimens for blinded real-time quantitative PCR for influenza A/B viruses, respiratory syncytial virus, adenovirus, rhinovirus and human metapneumovirus. RESULTS: Among 6073 individuals with ILI qualifying for the QM programme, only 8.7% (528/6073) would have undergone virus diagnostics during Standard-of-Care. Surveillance based on ICD codes would have missed 61% (359/587) of influenza diagnoses. Of baseline ICD codes, 53.2% (2811/5282) were non-specific, most commonly J06 ('acute upper respiratory infection'). Comparison of stakeholder case definitions revealed that QM-ILI and the WHO ILI case definition showed the highest overall sensitivities (84%-97% and 45%-68%, respectively) and the CDC ILI definition had the highest sensitivity for influenza infections (36%, 95% CI 31.4-40.8 for influenza A and 48%, 95% CI 40.5-54.7 for influenza B). CONCLUSIONS: Disease-burden estimates and surveillance should account for the underreporting of cases in routine care. Future studies should explore the effect of ILI screening and surveillance in various age groups and settings. Diagnostic algorithms should be based on the WHO ILI case definition combined with targeted testing.


Assuntos
Garantia da Qualidade dos Cuidados de Saúde/estatística & dados numéricos , Infecções Respiratórias/diagnóstico , Padrão de Cuidado/estatística & dados numéricos , Viroses/diagnóstico , Vírus/isolamento & purificação , Adolescente , Criança , Pré-Escolar , Feminino , Hospitais , Humanos , Lactente , Recém-Nascido , Influenza Humana/classificação , Influenza Humana/diagnóstico , Classificação Internacional de Doenças/normas , Masculino , Nasofaringe/virologia , Vigilância da População , Estudos Prospectivos , Garantia da Qualidade dos Cuidados de Saúde/normas , Reação em Cadeia da Polimerase em Tempo Real , Infecções Respiratórias/classificação , Infecções Respiratórias/virologia , Padrão de Cuidado/normas , Viroses/classificação
6.
Diabet Med ; 35(4): 498-503, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29356078

RESUMO

The ability of an individual living with diabetes to have human-to-human contact with their healthcare provider is not keeping pace with the number of people developing diabetes. From a futurist perspective, however, this dichotomy of diabetes care represents an opportunity for digital healthcare. The focus of technological innovation is unlikely to be the replacement of the multidisciplinary diabetes team but rather the provision of meaningful individual and family support between clinic visits and, on a larger scale, the facilitation of population health management for diabetes. We can also expect to see new therapies, including implantable drug delivery systems, automated closed-loop systems and miniaturized non-invasive glucose monitoring systems. New digital health technologies will create a 'digital diabetes ecosystem' to enhance rather than devolve care from humans. Concerns related to data privacy and ownership will inevitably rise, thus a future for diabetes care relying heavily on technology is not inevitably utopian. Nevertheless, revolutions in the development of novel sensors, accumulation of 'big data', and use of artificial intelligence will provide exciting opportunities for preventing, monitoring and treating diabetes in the near future.


Assuntos
Tecnologia Biomédica/tendências , Diabetes Mellitus/terapia , Inteligência Artificial , Automonitorização da Glicemia/instrumentação , Automonitorização da Glicemia/tendências , Diabetes Mellitus/sangue , Previsões , Hemoglobinas Glicadas/metabolismo , Humanos , Invenções/tendências , Aprendizado de Máquina
7.
Polar Biol ; 41(3): 399-413, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-31983801

RESUMO

The Arctic Ocean is a region particularly prone to ongoing ocean acidification (OA) and climate-driven changes. The influence of these changes on Arctic phytoplankton assemblages, however, remains poorly understood. In order to understand how OA and enhanced irradiances (e.g., resulting from sea-ice retreat) will alter the species composition, primary production, and eco-physiology of Arctic phytoplankton, we conducted an incubation experiment with an assemblage from Baffin Bay (71°N, 68°W) under different carbonate chemistry and irradiance regimes. Seawater was collected from just below the deep Chl a maximum, and the resident phytoplankton were exposed to 380 and 1000 µatm pCO2 at both 15 and 35% incident irradiance. On-deck incubations, in which temperatures were 6 °C above in situ conditions, were monitored for phytoplankton growth, biomass stoichiometry, net primary production, photo-physiology, and taxonomic composition. During the 8-day experiment, taxonomic diversity decreased and the diatom Chaetoceros socialis became increasingly dominant irrespective of light or CO2 levels. We found no statistically significant effects from either higher CO2 or light on physiological properties of phytoplankton during the experiment. We did, however, observe an initial 2-day stress response in all treatments, and slight photo-physiological responses to higher CO2 and light during the first five days of the incubation. Our results thus indicate high resistance of Arctic phytoplankton to OA and enhanced irradiance levels, challenging the commonly predicted stimulatory effects of enhanced CO2 and light availability for primary production.

8.
Deep Sea Res 2 Top Stud Oceanogr ; 138: 63-73, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28515575

RESUMO

The Antarctic Circumpolar Current has a high potential for primary production and carbon sequestration through the biological pump. In the current study, two large-scale blooms observed in 2012 during a cruise with R.V. Polarstern were investigated with respect to phytoplankton standing stocks, primary productivity and nutrient budgets. While net primary productivity was similar in both blooms, chlorophyll a -specific photosynthesis was more efficient in the bloom closer to the island of South Georgia (39 °W, 50 °S) compared to the open ocean bloom further east (12 °W, 51 °S). We did not find evidence for light being the driver of bloom dynamics as chlorophyll standing stocks up to 165 mg m-2 developed despite mixed layers as deep as 90 m. Since the two bloom regions differ in their distance to shelf areas, potential sources of iron vary. Nutrient (nitrate, phosphate, silicate) deficits were similar in both areas despite different bloom ages, but their ratios indicated more pronounced iron limitation at 12 °W compared to 39 °W. While primarily the supply of iron and not the availability of light seemed to control onset and duration of the blooms, higher grazing pressure could have exerted a stronger control toward the declining phase of the blooms.

9.
Nervenarzt ; 88(4): 397-407, 2017 Apr.
Artigo em Alemão | MEDLINE | ID: mdl-28188403

RESUMO

In common with other stereotactic procedures, stereotactic laser thermocoagulation (SLT) promises gentle destruction of pathological tissue, which might become especially relevant for epilepsy surgery in the future. Compared to standard resection, no large craniotomy is necessary, cortical damage during access to deep-seated lesions can be avoided and interventions close to eloquent brain areas become possible. We describe the history and rationale of laser neurosurgery as well as the two available SLT systems (Visualase® and NeuroBlate®; CE marks pending). Both systems are coupled with magnetic resonance imaging (MRI) and MR thermometry, thereby increasing patient safety. We report the published clinical experiences with SLT in epilepsy surgery (altogether approximately 200 cases) with respect to complications, brain structural alterations, seizure outcome, neuropsychological findings and treatment costs. The rate of seizure-free patients seems to be slightly lower than for resection surgery. Due to the inadequate quality of studies, the neuropsychological superiority of SLT has not yet been unambiguously demonstrated.


Assuntos
Epilepsia/cirurgia , Fotocoagulação a Laser/métodos , Imageamento por Ressonância Magnética/métodos , Técnicas Estereotáxicas , Cirurgia Assistida por Computador/métodos , Termografia/métodos , Epilepsia/diagnóstico por imagem , Medicina Baseada em Evidências , Humanos , Procedimentos Neurocirúrgicos/métodos , Resultado do Tratamento
10.
Herz ; 42(1): 91-97, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27333987

RESUMO

BACKGROUND: The aim of this study was to evaluate the long-term success rates of pulmonary vein isolation (PVI) using only first-generation cryoballoon (CB-1) and second-generation CB (CB-2) in patients with paroxysmal atrial fibrillation (PAF). PATIENTS AND METHODS: A total of 114 drug-refractory patients with PAF (mean age: 62 ± 10 years; 62.3 % males) were enrolled. All index ablation procedures were performed using a 28-mm CB. All patients were scheduled for outpatient clinic visits, followed by 24-h or 7­day Holter electrocardiogram (EGC) evaluation. RESULTS: All PVs in the CB-1 group and 367 of 368 (99.7 %) PVs in the CB-2 group were completely isolated during the index procedure. The most commonly observed complication was phrenic nerve palsy in four (4.3 %) patients with CB-2. The mean follow-up period for CB-1 and CB-2 was 33.4 ± 14.9 and 27.2 ± 10.6 months, respectively. Freedom from AF was 42.9 % for CB-1 and 74.2 % for CB-2 at the end of the follow-up period. The European Heart Rhythm Association score improved in patients without AF recurrence after the procedure (2.8 ± 0.4 vs. 1.2 ± 0.5, p < 0.001), whereas no significant improvement was observed in the symptomatic status of patients with recurrence (2.8 ± 0.4 vs. 2.2 ± 0.9, p = 0.149). CONCLUSION: Second-generation CB provided significantly better clinical outcomes than its predecessor and was associated with low peri- and postprocedural complications.


Assuntos
Fibrilação Atrial/diagnóstico , Fibrilação Atrial/cirurgia , Ablação por Cateter/instrumentação , Criocirurgia/instrumentação , Veias Pulmonares/cirurgia , Paralisia Respiratória/prevenção & controle , Ablação por Cateter/efeitos adversos , Ablação por Cateter/métodos , Criocirurgia/efeitos adversos , Criocirurgia/métodos , Desenho de Equipamento , Análise de Falha de Equipamento , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Paralisia Respiratória/etiologia , Resultado do Tratamento
11.
Int Endod J ; 50(8): 740-749, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27578486

RESUMO

AIM: To evaluate the association between chronic oral inflammatory burden (OIB) - as the combination of periodontal and endodontic disease load - and physical fitness. METHODOLOGY: One hundred and twelve nonsmoker male police officers who performed a standardized physical fitness test (PFT) were analysed. Participants underwent oral clinical and periapical radiographic examinations. Periodontal disease was assessed by probing depth (PD) and clinical attachment loss (AL). For radiographic analysis, both apical periodontitis (AP) and root canal treatment (RCT) variables were analysed. Endodontic Burden (EB) was calculated merging the total number of teeth with AP and/or RCT per individual. OIB was calculated combining EB and AL. The outcome of physical fitness was dichotomized according to whether the highest PFT score was 'achieved' or 'not-achieved'. Multivariable logistic regression models were adjusted for age, body mass index and frequency of daily exercise. RESULTS: There was no significant association between AP, RCT and EB with physical fitness whereas PD, AL and OIB were significantly associated with low physical fitness (P < 0.05). Multivariate regression analysis revealed that individuals with OIB = EB ≥ 3 and AL ≥ 4 mm had a 81% lower chance of reaching the highest PFT score (OR = 0.19, 95%CI = 0.04-0.87, P = 0.03) compared to individuals with EB < 3 and and no AL ≥ 4 mm. Individuals with unfavourable periodontal parameters but with low EB (OIB = EB < 3 & AL ≥ 4 mm) showed no significant differences on the chance to reach the highest PFT score compared to participants with favourable periodontal status and low EB (OIB = EB < 3 & no AL ≥ 4 mm). CONCLUSIONS: The OIB - higher levels of EB in periodontal patients - was independently associated with poor physical fitness in males.


Assuntos
Periodontite Periapical/fisiopatologia , Doenças Periodontais/fisiopatologia , Índice Periodontal , Aptidão Física/fisiologia , Adulto , Estudos Transversais , Humanos , Masculino , Periodontite Periapical/cirurgia , Doenças Periodontais/cirurgia , Fatores de Risco , Tratamento do Canal Radicular , Adulto Jovem
12.
J Hum Nutr Diet ; 30(3): 326-338, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-27747955

RESUMO

BACKGROUND: Mobile applications (apps) could support diabetes management through dietary, weight and blood glucose self-monitoring, as well as by promoting behaviour change. The present study aimed to evaluate diabetes apps for content, functions and behaviour change techniques (BCTs). METHODS: Diabetes self-management apps for Android smartphones were searched for on the Google Play Store. Ten apps each from the following search terms were included; 'diabetes', 'diabetes type 1', 'diabetes type 2', 'gestational diabetes'. Apps were evaluated by being scored according to their number of functions and BCTs, price, and user rating. RESULTS: The mean (SD) number of functions was 8.9 (5.9) out of a possible maximum of 27. Furthermore, the mean (SD) number of BCTs was 4.4 (2.6) out of a possible maximum of 26. Apps with optimum BCT had significantly more functions [13.8; 95% confidence interval (CI) = 11.9-15.9] than apps that did not (4.7; 95% CI = 3.2-6.2; P < 0.01) and significantly more BCTs (5.8; 95% CI = 4.8-7.0) than apps without (3.1; 95% CI = 2.2-4.1; P < 0.01). Additionally, apps with optimum BCT also cost more than other apps. In the adjusted models, highly rated apps had an average of 4.8 (95% CI = 0.9-8.7; P = 0.02) more functions than lower rated apps. CONCLUSIONS: 'Diabetes apps' include few functions or BCTs compared to the maximum score possible. Apps with optimum BCTs could indicate higher quality. App developers should consider including both specific functions and BCTs in 'diabetes apps' to make them more helpful. More research is needed to understand the components of an effective app for people with diabetes.


Assuntos
Diabetes Mellitus/terapia , Comportamentos Relacionados com a Saúde , Aplicativos Móveis , Smartphone , Glicemia/metabolismo , Índice de Massa Corporal , Telefone Celular , Bases de Dados Factuais , Diabetes Mellitus/sangue , Dieta , Exercício Físico , Hemoglobinas Glicadas/metabolismo , Humanos , Hipoglicemiantes/uso terapêutico , Internet , Autorrelato , Autogestão
14.
Bratisl Lek Listy ; 115(1): 34-7, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24471901

RESUMO

UNLABELLED: Metabolic surgery is a dynamic field providing a wide range of new techniques. The aim of our paper is to inform about gastric electrostimulation in the treatment of type 2 diabetes mellitus. Gastric electrostimulation in type 2 diabetes mellitus treatment is performed by means of implanting Tantalus system (Metacure). When triggered by food intake, the Tantalus system generates signals for the stomach to contract. Early after the food intake, thus before the stomach distends completely, the system increases spontaneous stomach contractions. Via afferent vagal signals, these increased contractions are evaluated by the central nervous system as a sign that satiety has been reached. Three pairs of electrodes connected with a stimulator are implanted laparoscopically. The system comes equipped with a battery as well. Laparoscopically implanted system of stomach electrostimulation presents a simple and easily regulated system without disturbing the integrity of gastrointestinal tract. It is a reversible system. In accord with preliminary results, Tantalus offers a safe and effective treatment of type 2 diabetes mellitus by reducing other cardiometabolical risky factors. The operation safety is comparable with that of similar minimally invasive surgical techniques. In order to improve our understanding of diabetes mellitus pathophysiology as well as of effects of gastric electrostimulation, more trials need to be performed. The surgical diabetes treatment represents an interesting chance for patients and it might become a common technique in the future (Fig. 1, Ref. 29). KEYWORDS: diabetes mellitus, obesity, gastric stimulation, pacemaker.


Assuntos
Diabetes Mellitus Tipo 2/terapia , Terapia por Estimulação Elétrica , Obesidade/terapia , Estômago/cirurgia , Redução de Peso , Índice de Massa Corporal , Diabetes Mellitus Tipo 2/fisiopatologia , Terapia por Estimulação Elétrica/métodos , Eletrodos Implantados , Esvaziamento Gástrico , Humanos , Obesidade/fisiopatologia , Estômago/fisiopatologia , Resultado do Tratamento
15.
Int J Lab Hematol ; 35(3): 297-305, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23590658

RESUMO

The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Increased immigration of high-risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America. In Canada, the UK, and other European countries, prenatal screening to identify hemoglobinopathy carriers and offer prenatal diagnostic testing to couples at risk is linked to newborn screening, while in the United States, it is still not universally performed. The structure of screening programs, whether prenatal or postnatal, universal or selective, varies greatly among these countries and within the United States. The laboratory methods used to identify hemoglobinopathies are based on the prevalence of hemoglobinopathies within the population and the type of screening performed. Advances in molecular testing have facilitated the diagnosis of complex thalassemias and sickling disorders observed in ethnically diverse populations. This review summarizes the current approaches and methods used for carrier detection, prenatal diagnosis, and newborn screening.


Assuntos
Doenças Fetais/diagnóstico , Hemoglobinopatias/diagnóstico , Triagem Neonatal/métodos , Diagnóstico Pré-Natal/métodos , Feminino , Doenças Fetais/genética , Testes Genéticos/métodos , Hemoglobinopatias/genética , Humanos , Recém-Nascido , Gravidez , Serviços Preventivos de Saúde/métodos
16.
Eur J Clin Nutr ; 66(5): 622-7, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22274550

RESUMO

BACKGROUND/OBJECTIVES: There is increasing evidence to support that a high-protein diet may promote weight loss and prevent weight (re)gain better than a low-protein diet, and that the effect is due to higher diet-induced thermogenesis (DIT) and increased satiety. However, data on the effect of different types of protein are limited. In the present study we compare the effect of whey, casein and milk on DIT and satiety. SUBJECTS/METHODS: Seventeen slightly overweight (29 ± 4 kg/m(2)) male subjects completed the study. The study had a randomized, crossover design, where the effect on 4 h postprandial energy expenditure (EE), substrate oxidation and subjective appetite sensation of three isocaloric test meals containing either a whey drink, a casein drink or skim milk was examined. Energy intake (EI) at a subsequent ad libitum lunch was also measured. RESULTS: There was no significant effect on subjective appetite sensation, but EI at lunch was lower after the milk test meal than after the casein (9%; P=0.0260) and the whey (9%; P=0.0258) test meals. Postprandial lipid oxidation was significantly higher after the casein test meal compared with the whey test meal (P=0.0147) when adjusted for baseline values. There was no significant difference in effect on EE, protein oxidation or carbohydrate oxidation. CONCLUSIONS: Milk reduced subsequent EI more than isocaloric drinks containing only whey or casein. A small but significant increase in lipid oxidation was seen after casein compared with whey.


Assuntos
Apetite/efeitos dos fármacos , Ingestão de Energia/efeitos dos fármacos , Proteínas do Leite/farmacologia , Leite/química , Sobrepeso/dietoterapia , Resposta de Saciedade/efeitos dos fármacos , Termogênese/efeitos dos fármacos , Adulto , Animais , Regulação do Apetite/efeitos dos fármacos , Caseínas/farmacologia , Estudos Cross-Over , Dieta Redutora , Metabolismo Energético/efeitos dos fármacos , Humanos , Peroxidação de Lipídeos/efeitos dos fármacos , Masculino , Oxirredução , Período Pós-Prandial , Proteínas do Soro do Leite , Adulto Jovem
17.
Int J Lab Hematol ; 32(4): 373-80, 2010 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-19919622

RESUMO

Hemoglobin Constant Spring (HbCS) is the most common nondeletional alpha-thalassemia variant causing HbH disease, making its detection crucial in populations at risk. Universal newborn screening for HbH is carried out in California. Identification of alpha-thalassemia genotypes responsible for HbH and HbH-CS requires rapid, accurate and cost-effective genotyping methods suitable for population screening. We incorporated the HbCS mutation into our existing seven-plex genotyping assay for common alpha-thalassemia deletions. To assess the feasibility and diagnostic utility of this expanded multiplex gap-PCR assay, we determined genotypic frequencies of HbCS in samples referred for alpha-thalassemia testing between 1 January 2006 and 31 December 2008. During the 3-year study period, 1436 samples were genotyped for alpha-thalassemia. HbH-CS accounted for 23 (13%) of the 176 cases of HbH disease identified. In a subset of 145 newborns referred by the California NBS program with an elevated Hb Bart's level at birth, HbH disease was confirmed in 134 (93%) and HbH-CS identified in 13 (10%) of these. This expanded genotyping assay has proven to be a rapid, reliable and clinically useful diagnostic tool for the detection of HbH-CS disease.


Assuntos
Hemoglobinas Anormais/genética , Reação em Cadeia da Polimerase/métodos , Deleção de Sequência/genética , Talassemia alfa/genética , California , Seguimentos , Genótipo , Humanos , Recém-Nascido , Talassemia alfa/sangue , Talassemia alfa/diagnóstico
18.
Eur J Clin Nutr ; 63(9): 1076-83, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19471293

RESUMO

BACKGROUND/OBJECTIVES: Milk increases both fasting insulin and insulin-like growth factor 1 (IGF-1), and thereby growth, in healthy prepubertal boys. It is, however, unknown which components in milk are responsible for milk's growth-stimulating effect. SUBJECTS/METHODS: To get closer to the identification of which components in milk that stimulate growth, we have performed an intervention study with 57 eight-year-old boys in which we examined the effects of the two major milk protein fractions, whey and casein, and milk minerals (Ca and P) in a 2 x 2 factorial design on IGFs and glucose-insulin metabolism. The amounts of whey and casein were identical to the content in 1.5 l skim milk. The amounts of Ca and P were similar to 1.5 l skim milk in the high-mineral drinks, whereas the amounts of Ca and P were reduced in the low-mineral drinks. RESULTS: There were no interactions between milk mineral groups (high, low) and milk protein groups (whey, casein). Serum IGF-1 increased by 15% (P<0.0001), whereas there was no change in fasting insulin (P=0.36) in the casein group. In the whey group, fasting insulin increased by 21% (P=0.006), with no change in IGF-1 (P=0.27). There were no independent effects of a high milk mineral intake on IGF-1 and insulin. CONCLUSIONS: The main milk protein fractions exhibit important but different growth-promoting effects by increasing either fasting insulin (whey) or IGF-1 (casein) levels.


Assuntos
Caseínas/farmacologia , Proteínas Alimentares/administração & dosagem , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/sangue , Fator de Crescimento Insulin-Like I/metabolismo , Insulina/sangue , Proteínas do Leite/farmacologia , Cálcio/farmacologia , Cálcio da Dieta/administração & dosagem , Criança , Método Duplo-Cego , Humanos , Masculino , Fósforo/farmacologia , Fósforo na Dieta/administração & dosagem , Proteínas do Soro do Leite
19.
Eur J Clin Nutr ; 63(8): 956-63, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19174829

RESUMO

BACKGROUND/OBJECTIVES: High protein intake has been associated with increased growth. This may be linked to increased concentrations of insulin-like growth factor I (IGF-I), which seems to be influenced by the diet, especially its protein component. The short-term effects of high protein intake in late infancy are not known. The objective was to investigate the effects of high protein intake in the form of whole milk (WM) on growth and IGF-I from 9 to 12 months of age. SUBJECTS/METHODS: Healthy infants (n=83) were randomized to receive either WM or infant formula and fish oil or no fish oil (2 x 2 design). Anthropometric variables, IGF-I concentrations, serum urea nitrogen (SUN) and diet were recorded before and after the intervention. RESULTS: Intake of WM significantly increased the protein energy percentage (PE%; P< or =0.001) and SUN (P=0.01), whereas there was no effect on size. The milk intervention increased IGF-I in boys (P=0.034) but not in girls. Intake of fish oil had no effect on the outcomes. Including all infants in the analysis there was a significant correlation between weight and IGF-I at 12 months (r=0.316, P=0.017), and PE% was positively associated with IGF-I after adjusting for sex and breastfeeding at both 9 (r=0.329, P=0.015) and 12 months (r=0.272, P=0.044). CONCLUSIONS: Randomization to WM had no overall effect on growth. However, the positive effect of WM on IGF-I in boys and the positive association between PE% intake and IGF-I at 9 and 12 months is consistent with the hypothesis that a high milk intake stimulates growth.


Assuntos
Peso Corporal/efeitos dos fármacos , Proteínas Alimentares/farmacologia , Crescimento/efeitos dos fármacos , Fórmulas Infantis/metabolismo , Fator de Crescimento Insulin-Like I/metabolismo , Leite/metabolismo , Animais , Nitrogênio da Ureia Sanguínea , Dieta , Gorduras na Dieta/farmacologia , Proteínas Alimentares/metabolismo , Ingestão de Energia , Feminino , Óleos de Peixe/farmacologia , Humanos , Lactente , Masculino , Fatores Sexuais
20.
Physiol Res ; 58(1): 69-75, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-18198987

RESUMO

The novel environment of a metabolic cage can be stressful for rodents, but few studies have attempted to quantify this stress-response. Therefore, we determined the effects on mean arterial pressure (MAP) and heart rate (HR), of placing mice of both sexes in metabolism cages for 2 days. After surgical implantation of a carotid artery catheter mice recovered individually in standard cages for 5 days. Mice then spent 2 days in metabolism cages. MAP and HR were monitored in the standard cage on Day 5 and in metabolism cages on Days 6-7. MAP increased by 18+/-3 and 22+/-4 %, while HR increased by 27+/-4 and 27+/-6 %, in males and females, respectively, during the first hours after cage switch. MAP decreased to baseline in the fourth and eighth h following metabolism cage switch in males and females, respectively. However, HR remained significantly elevated in both sexes during the entire two-day period in metabolism cages. Females had lower MAP than males both pre- and post-metabolism cage switch, but there were no sex differences in HR. These results demonstrate sustained changes in cardiovascular function when mice are housed in metabolism cages, which could potentially affect renal function.


Assuntos
Comportamento Animal , Abrigo para Animais , Hipertensão/fisiopatologia , Estresse Psicológico/complicações , Taquicardia/fisiopatologia , Animais , Pressão Sanguínea , Feminino , Frequência Cardíaca , Hipertensão/psicologia , Rim/fisiopatologia , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Fatores Sexuais , Estresse Psicológico/fisiopatologia , Taquicardia/psicologia , Fatores de Tempo
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