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1.
Mol Genet Metab ; 133(1): 49-55, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33766497

RESUMO

BACKGROUND: In patients with phenylketonuria, stability of blood phenylalanine and tyrosine concentrations might influence brain chemistry and therefore patient outcome. This study prospectively investigated the effects of tetrahydrobiopterin (BH4), as a chaperone of phenylalanine hydroxylase on diurnal and day-to-day variations of blood phenylalanine and tyrosine concentrations. METHODS: Blood phenylalanine and tyrosine were measured in dried blood spots (DBS) four times daily for 2 days (fasting, before lunch, before dinner, evening) and once daily (fasting) for 6 days in a randomized cross-over design with a period with BH4 and a period without BH4. The sequence was randomized. Eleven proven BH4 responsive PKU patients participated, 5 of them used protein substitutes during BH4 treatment. Natural protein intake and protein substitute dosing was adjusted during the period without BH4 in order to keep DBS phenylalanine levels within target range. Patients filled out a 3-day food diary during both study periods. Variations of DBS phenylalanine and Tyr were expressed in standard deviations (SD) and coefficient of variation (CV). RESULTS: BH4 treatment did not significantly influence day-to-day phenylalanine and tyrosine variations nor diurnal phenylalanine variations, but decreased diurnal tyrosine variations (median SD 17.6 µmol/l, median CV 21.3%, p = 0.01) compared to diet only (median SD 34.2 µmol/l, median CV 43.2%). Consequently, during BH4 treatment diurnal phenylalanine/tyrosine ratio variation was smaller, while fasting tyrosine levels tended to be higher. CONCLUSION: BH4 did not impact phenylalanine variation but decreased diurnal tyrosine and phenylalanine/tyrosine ratio variations, possibly explained by less use of protein substitute and increased tyrosine synthesis.


Assuntos
Biopterinas/análogos & derivados , Fenilalanina Hidroxilase/genética , Fenilalanina/sangue , Fenilcetonúrias/tratamento farmacológico , Tirosina/sangue , Adulto , Biopterinas/efeitos adversos , Biopterinas/farmacologia , Encéfalo/efeitos dos fármacos , Encéfalo/metabolismo , Encéfalo/patologia , Criança , Pré-Escolar , Teste em Amostras de Sangue Seco , Feminino , Humanos , Masculino , Fenilalanina Hidroxilase/antagonistas & inibidores , Fenilcetonúrias/genética , Fenilcetonúrias/patologia
2.
Eur J Pediatr ; 179(2): 251-256, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31709473

RESUMO

Ataxia telangiectasia (A-T) is a severe neurodegenerative disorder with variable immunodeficiency. Together with the Dutch A-T community, we investigated the opinion of A-T parents on an early A-T diagnosis in the asymptomatic phase of the disease. During an annual national meeting for A-T patients and families, the topic of an early A-T diagnosis was discussed in relation to the recent introduction of neonatal screening for severe combined immunodeficiency (SCID) in the Netherlands. Based on the discussion, individual arguments were identified and processed into a questionnaire, which was sent out to 64 A-T parents (32 families). Arguments included were insecurity to diagnosis, possible medical advantages, appropriate genetic counseling and family planning, loss of "golden" year(s), and early cancer screening for parents. The response rate was 55% (n = 35 parents). Twenty-six (74%) parents felt that the advantages of an early diagnosis outweighed the disadvantages, five parents thought that the disadvantages would outweigh the advantages (14%), and four parents did not indicate a preference.Conclusion: The majority of parents of a child with A-T would have preferred an early diagnosis during the asymptomatic phase of the disease, because the uncertainty during the diagnostic process had had a major impact on their lives. In addition, the knowledge of being carriers of an ATM gene mutation influenced decisions about family planning. Parents who opposed against an early diagnosis emphasized the joy of having a seemingly healthy child until diagnosis.What is Known:• Ataxia telangiectasia (A-T) is a devastating DNA repair disorder with a huge impact on quality of life of patients and their parents.• Patients with A-T may incidentally be identified at birth as the consequence of neonatal screening for severe combined immunodeficiency (SCID).What is New:• The majority of Dutch parents of A-T patients (74%) would have preferred an early diagnosis of their child in the asymptomatic phase of the disease.• Major arguments for an early A-T diagnosis were (1) the experienced insecurity in diagnostic trajectories and its impact on families and (2) the knowledge of being ATM mutation carriers when deciding about family planning. An argument against an early diagnosis is losing the joy of having a seemingly healthy child until diagnosis.


Assuntos
Ataxia Telangiectasia/diagnóstico , Ataxia Telangiectasia/genética , Diagnóstico Precoce , Aconselhamento Genético , Triagem Neonatal/métodos , Inquéritos e Questionários , Adulto , Ataxia Telangiectasia/epidemiologia , Pré-Escolar , Feminino , Predisposição Genética para Doença , Humanos , Incidência , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Relações Pais-Filho , Pais/psicologia , Medição de Risco
3.
Ned Tijdschr Geneeskd ; 1682024 Apr 25.
Artigo em Holandês | MEDLINE | ID: mdl-38661147

RESUMO

Offering meaningful care to patients with an addiction is not always easy. This also holds true for general physicians. In this article we provide a legal and practical framework for general physicians on how to provide meaningful care for this group of patients. Various interventions are described. In case meaningful care does not seem to be an option, then the general physician has to draw his conclusions.


Assuntos
Atenção Primária à Saúde , Transtornos Relacionados ao Uso de Substâncias , Humanos , Transtornos Relacionados ao Uso de Substâncias/terapia , Países Baixos
4.
BMJ Open ; 12(11): e062624, 2022 11 22.
Artigo em Inglês | MEDLINE | ID: mdl-36414313

RESUMO

OBJECTIVES: A systematic review was conducted with the aims of identifying sectors mentioned in the public health emergency preparedness and response (PHEPR) literature and mapping the involvement of those sectors in the seven PHEPR cycle domains. SETTING: A detailed search strategy was conducted in Embase and Scopus, covering the period between 1 January 2005 and 1 January 2020. METHODS: Published articles focusing on preparedness for and/or response to public health emergencies of multiple origins on the European continent were included. The frequency with which predetermined sectors were mentioned when describing collaboration during the preparedness and response cycle was determined. RESULTS: The results show that description of the involvement of sectors in PHEPR in general and collaboration during PHEPR is predominantly confined to a limited number of sectors, namely 'Governmental institutions', 'Human health industry', 'Experts' and 'Civil Society'. Description is also limited to only three domains of the PHEPR cycle, namely 'Risk and crisis management', 'Pre-event preparations and governance' and 'Surveillance'. CONCLUSIONS: Optimal preparedness and response require predefined collaboration with a broader scope of partners than currently seems to be the case based on this literature review. We recommend considering these outcomes when planning multisectoral collaboration during preparedness and response, as well as the need to further operationalise the term 'multisectoral collaboration' during PHEPRs. PROSPERO REGISTRATION NUMBER: PROSPERO with registration number 176 331.


Assuntos
Defesa Civil , Humanos , Defesa Civil/métodos , Saúde Pública/métodos
5.
Mol Genet Metab ; 104 Suppl: S60-3, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21996137

RESUMO

BACKGROUND: The 24- and 48-hour tetrahydrobiopterin (BH4) loading test (BLT) performed at a minimum baseline phenylalanine concentration of 400 µmol/l is commonly used to test phenylketonuria patients for BH4 responsiveness. This study aimed to analyze differences between the 24- and 48-hour BLT and the necessity of the 400 µmol/l minimum baseline phenylalanine concentration. METHODS: Data on 186 phenylketonuria patients were collected. Patients were supplemented with phenylalanine if phenylalanine was <400 µmol/l. BH4 20mg/kg was administered at T = 0 and T = 24. Blood samples were taken at T=0, 8, 16, 24 and 48 h. Responsiveness was defined as ≥ 30% reduction in phenylalanine concentration at ≥ 1 time point. RESULTS: Eighty-six (46.2%) patients were responsive. Among responders 84% showed a ≥ 30% response at T = 48. Fifty-three percent had their maximal decrease at T = 48. Fourteen patients had ≥ 30% phenylalanine decrease not before T = 48. A ≥ 30% decrease was also seen in patients with phenylalanine concentrations <400 µmol/l. CONCLUSION: In the 48-hour BLT, T = 48 seems more informative than T = 24. Sampling at T = 32, and T = 40 may have additional value. BH4 responsiveness can also be predicted with baseline blood phenylalanine <400 µmol/l, when the BLT is positive. Therefore, if these results are confirmed by data on long-term BH4 responsiveness, we advise to first perform a BLT without phenylalanine loading and re-test at higher phenylalanine concentrations when no response is seen. Most likely, the 48-hour BLT is a good indicator for BH4 responsiveness, but comparison with long term responsiveness is necessary.


Assuntos
Biopterinas/análogos & derivados , Técnicas e Procedimentos Diagnósticos , Fenilalanina/sangue , Fenilcetonúrias/sangue , Fenilcetonúrias/tratamento farmacológico , Adolescente , Adulto , Biopterinas/uso terapêutico , Criança , Pré-Escolar , Demografia , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Fatores de Tempo
6.
Clin Nutr ; 40(5): 3622-3630, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33451859

RESUMO

BACKGROUND AND OBJECTIVE: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism. While survival of MMA and PA patients has improved in recent decades, long-term outcome is still unsatisfactory. A protein restricted diet is the mainstay for treatment. Additional amino acid mixtures (AAM) can be prescribed if natural protein is insufficient. It is unknown if dietary treatment can have an impact on outcome. DESIGN: We performed a nationwide retrospective cohort study and evaluated both longitudinal dietary treatment and clinical course of Dutch MMA and PA patients. Protein prescription was compared to the recommended daily allowances (RDA); the safe level of protein intake as provided by the World Health Organization. The association of longitudinal dietary treatment with long-term outcome was evaluated. RESULTS: The cohort included 76 patients with a median retrospective follow-up period of 15 years (min-max: 0-48 years) and a total of 1063 patient years on a protein restricted diet. Natural protein prescription exceeded the RDA in 37% (470/1287) of all prescriptions and due to AAM prescription, the total protein prescription exceeded RDA in 84% (1070/1277). Higher protein prescriptions were associated with adverse outcomes in severely affected patients. In PA early onset patients a higher natural protein prescription was associated with more frequent AMD. In MMA vitamin B12 unresponsive patients, both a higher total protein prescription and AAM protein prescription were associated with more mitochondrial complications. A higher AAM protein prescription was associated with an increased frequency of cognitive impairment in the entire. CONCLUSION: Protein intake in excess of recommendations is frequent and is associated with poor outcome.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos , Dieta com Restrição de Proteínas , Acidemia Propiônica , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Erros Inatos do Metabolismo dos Aminoácidos/complicações , Erros Inatos do Metabolismo dos Aminoácidos/dietoterapia , Erros Inatos do Metabolismo dos Aminoácidos/epidemiologia , Aminoácidos/uso terapêutico , Criança , Pré-Escolar , Proteínas Alimentares/uso terapêutico , Humanos , Lactente , Recém-Nascido , Pessoa de Meia-Idade , Acidemia Propiônica/complicações , Acidemia Propiônica/dietoterapia , Acidemia Propiônica/epidemiologia , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
7.
Eur J Paediatr Neurol ; 33: 112-120, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34153871

RESUMO

BACKGROUND: Pyridoxine monotherapy in PDE-ALDH7A1 often results in adequate seizure control, but neurodevelopmental outcome varies. Detailed long-term neurological outcome is unknown. Here we present the cognitive and neurological features of the Dutch PDE-ALDH7A1 cohort. METHODS: Neurological outcome was assessed in 24 patients (age 1-26 years); classified as normal, complex minor neurological dysfunction (complex MND) or abnormal. Intelligence quotient (IQ) was derived from standardized IQ tests with five severity levels of intellectual disability (ID). MRI's and treatments were assessed. RESULTS: Ten patients (42%) showed unremarkable neurological examination, 11 (46%) complex MND, and 3 (12%) cerebral palsy (CP). Minor coordination problems were identified in 17 (71%), fine motor disability in 11 (46%), posture/muscle tone deviancies in 11 (46%) and abnormal reflexes in 8 (33%). Six patients (25%) had an IQ > 85, 7 (29%) borderline, 7 (29%) mild, 3 (13%) moderate, and 1 severe ID. Cerebral ventriculomegaly on MRI was progressive in 11. Three patients showed normal neurologic exam, IQ, and MRI. Eleven patients were treated with pyridoxine only and 13 by additional lysine reduction therapy (LRT). LRT started at age <3 years demonstrated beneficial effect on IQ results in 3 patients. DISCUSSION: Complex MND and CP occurred more frequently in PDE-ALDH7A1 (46% and 12%) than in general population (7% and 0.2%, Peters et al., 2011, Schaefer et al., 2008). Twenty-five percent had a normal IQ. Although LRT shows potential to improve outcomes, data are heterogeneous in small patient numbers. More research with longer follow-up via the International PDE Registry (www.pdeonline.org) is needed.


Assuntos
Cognição , Pessoas com Deficiência , Epilepsia , Transtornos Motores , Adolescente , Adulto , Aldeído Desidrogenase , Criança , Pré-Escolar , Estudos Transversais , Humanos , Lactente , Piridoxina , Adulto Jovem
8.
Clin Genet ; 77(1): 10-7, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20092587

RESUMO

Although a scientific and ethical debate about the possible reproductive options for carriers of mitochondrial DNA (mtDNA) mutations is developing, not much information regarding the views and experiences of professionals exists. This paper explores the attitudes and experiences of professionals involved on a daily basis with their patients' reproductive decision-making in the context of mtDNA disease. Qualitative international multicenter design using in-depth semi-structured interviews with 20 professionals has been utilized. We identified four main themes emerging from the interviews. Firstly, we illustrate the discussion among professionals as to what extent mitochondrial genetics differs from other areas in genetics, both technically and ethically. Secondly, we show the discomfort and doubts of professionals when an mtDNA mutation is involved, because of the uncertainty remaining after testing. Thirdly, we discuss how professionals struggle with the tension between, on the one hand, the ideal of reproductive autonomy and, on the other hand, the reality of their professional responsibility and complex clinical decision-making. Fourthly, we delineate the strategies used by professionals in order to make attempts to control uncertainty. This paper illustrates the impact on professionals of reproductive decision-making in the context of mtDNA disease. It shows their feelings of discomfort when interpreting and explaining uncertain or ambiguous data and may be perceived as an example of how professionals deal with the inherent limitations in genetic knowledge representing the state of the art. Insight into the experiences of professionals may contribute to a further improvement of reproductive genetic counseling in the context of mtDNA disorders.


Assuntos
Serviços de Planejamento Familiar/ética , Aconselhamento Genético , Conhecimentos, Atitudes e Prática em Saúde , Heterozigoto , Doenças Mitocondriais/genética , DNA Mitocondrial/genética , Tomada de Decisões , Humanos
9.
J Inherit Metab Dis ; 31 Suppl 2: S299-302, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18500570

RESUMO

We report a 5-year-old child carrying polymerase gamma (POLG1) mutations, but strikingly normal oxidative phosphorylation analysis in muscle, fibroblasts and liver. Mutations in POLG1 have so far been described in children with severe combined oxidative phosphorylation (OXPHOS) deficiencies and with the classical Alpers-Huttenlocher syndrome. The patient presented with a delayed psychomotor development and ataxia during the first two years of life. From the third year of life he developed epilepsy and regression in development, together with symptoms of visual impairment and sensorineuronal deafness. Cerebrospinal fluid showed elevated lactic acid and protein concentrations. An elder brother had died due to combined OXPHOS deficiencies. Despite the clinical similarity with the elder brother, except for liver involvement, the OXPHOS system analysis in a frozen muscle biopsy was normal. For this reason a fresh muscle biopsy was performed, which has the advantage of the possibility of measuring the substrate oxidation rates and ATP production, part of the mitochondrial energy-generating system (MEGS). During the same session, biopsies of liver and fibroblasts were taken. These three tissues showed normal measurements of the MEGS capacity. Based on the phenotype of Alpers-Huttenlocher syndrome in the elder brother, we decided to screen the POLG1 gene. Mutation analysis showed compound heterozygosity with two known mutations, A467T and G848S. The normal MEGS capacity in this patient expands the already existing complexity and heterogeneity of the childhood POLG1 patients and, on the basis of the high frequency of POLG1 mutations in childhood, warrants a liberal strategy with respect to mutation analysis.


Assuntos
DNA Polimerase Dirigida por DNA/genética , Esclerose Cerebral Difusa de Schilder/diagnóstico , Fibroblastos/enzimologia , Fígado/enzimologia , Músculo Esquelético/enzimologia , Mutação , Fosforilação Oxidativa , Biomarcadores/sangue , Biomarcadores/urina , Biópsia , Pré-Escolar , Análise Mutacional de DNA , DNA Polimerase gama , Esclerose Cerebral Difusa de Schilder/complicações , Esclerose Cerebral Difusa de Schilder/enzimologia , Esclerose Cerebral Difusa de Schilder/genética , Progressão da Doença , Predisposição Genética para Doença , Heterozigoto , Humanos , Masculino , Linhagem , Fenótipo
10.
Ned Tijdschr Geneeskd ; 152(12): 679-83, 2008 Mar 22.
Artigo em Holandês | MEDLINE | ID: mdl-18438063

RESUMO

--Ethical approval of research involving human beings is based on two pillars: supervision of the scientific merit of the research and the risks and burdens for participants by an institutional review board (IRB) or the Dutch Central Committee on Research Involving Human Subjects (CCMO), and obtaining informed consent from the participant or his or her legal guardian. --Discussions on the ethical acceptability of a study generally focus on the first pillar, assessment by an IRB. The second pillar, obtaining informed consent, is often neglected. --Some ethical concepts play a role in obtaining informed consent, especially the concept of the 'therapeutic misconception', i.e. that participating in a study is the same as receiving individualised treatment from a physician. --Of importantance in this matter is the fundamental difference between the research relationship (between investigator and participant) and treatment relationship (between physician and patient). --Understanding the concept of therapeutic misconception is essential to explaining why it is often difficult to obtain valid informed consent from patients for medical research.


Assuntos
Comitês de Ética em Pesquisa , Ética em Pesquisa , Experimentação Humana/normas , Consentimento Livre e Esclarecido , Revisão Ética , Humanos , Fatores de Risco
11.
Eur J Endocrinol ; 179(5): R219-R237, 2018 10 12.
Artigo em Inglês | MEDLINE | ID: mdl-30049812

RESUMO

Over the past 20 years, the care for transgender adolescents has developed throughout many countries following the "Dutch Approach" initiated in the 90's in pioneer countries as the Netherlands, United States and Canada, with increasing numbers of children and adolescents seeking care in transgender clinics. This medical approach has considerable positive impacts on the psychological outcomes of these adolescents and several studies have been recently published underlining the relative safety of such treatments. This paper reviews the current standards of care for transgender children and adolescents with particular emphasis on disparities among countries and short to medium-term outcomes. Finally it highlights ethical considerations regarding categorization of gender dysphoria, timing of treatment initiation, infertility, and how to deal with the long-term consequences.


Assuntos
Disforia de Gênero/tratamento farmacológico , Adolescente , Criança , Europa (Continente) , Feminino , Disforia de Gênero/diagnóstico , Humanos , Masculino , Estados Unidos
12.
Ned Tijdschr Geneeskd ; 151(26): 1474-7, 2007 Jun 30.
Artigo em Holandês | MEDLINE | ID: mdl-17633979

RESUMO

Deliberate ending of life of newborns is an extreme measure that is usually based on hopeless and existing unbearable suffering. There are currently developments that may lead to clarification and refinement of the standards and rules surrounding deliberate ending of life of newborns. This pertains to the phase immediately following the decision to refrain from curative treatment. An important aspect here is that parents and doctors will have to reach agreement on the extent to which the suffering of the newborn can be classified as unbearable. Furthermore, in the case of deliberate ending of life of newborns, consideration must be given not only to current suffering but also the severe suffering that will develop in the near future. The points ofspecial importance that the medical profession had developed in relation to the assessment of future unbearable suffering may provide assistance here and should be implemented.


Assuntos
Tomada de Decisões , Ética Médica , Eutanásia Ativa/ética , Padrões de Prática Médica , Humanos , Recém-Nascido , Países Baixos , Qualidade de Vida , Suspensão de Tratamento/ética
13.
Ned Tijdschr Geneeskd ; 150(14): 761-5, 2006 Apr 08.
Artigo em Holandês | MEDLINE | ID: mdl-16649391

RESUMO

Two baby boys, born of mothers that were abusing drugs, were restless and hypertonic, typical symptoms of the neonatal withdrawal syndrome. The symptoms disappeared during treatment with phenobarbital and methadone. The children were then placed in a foster home. Symptoms of the neonatal withdrawal syndrome are excitation of the central nervous system, the gastrointestinal tract and the respiratory tract. For both legal and medical reasons it is essential to test the urine of the neonate for drugs. The Finnegan score is a useful tool to decide whether medical treatment is indicated. Medical treatment consists of the administration of phenobarbital and or methadone. The Child Protection Agency of the Ministry of Justice is notified of the child's birth. If parents that are abusing drugs have been shown not to be able to look after their children, they are limited in their right to parenthood.


Assuntos
Hipnóticos e Sedativos/uso terapêutico , Metadona/uso terapêutico , Entorpecentes/uso terapêutico , Síndrome de Abstinência Neonatal/tratamento farmacológico , Fenobarbital/uso terapêutico , Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Síndrome de Abstinência Neonatal/diagnóstico , Gravidez , Fatores de Risco , Resultado do Tratamento
14.
Psychopharmacology (Berl) ; 92(1): 73-7, 1987.
Artigo em Inglês | MEDLINE | ID: mdl-3110831

RESUMO

To establish the role of the GABA-ergic mechanism within the striatal-pallidal complex in hindlimb disturbances, forelimb disturbances and catalepsy and the relationship between these phenomena, the effects of the locally injected GABA agonist muscimol (0.5 microliter per side) were investigated in rats using several specific tests of catalepsy. The time required for retracting free-hanging hindlimbs was dose-dependently prolonged by 2-10 ng muscimol. The time required for releasing a rod that was clasped between the forelegs of otherwise free-hanging rats was dose-dependently prolonged by 5-10 ng muscimol. Likewise, the time required for retracting the free-hanging forelimbs was dose-dependently prolonged over the same dose range. Finally, the time during which standing rats kept their forelimbs on a block of 9 cm height (the dependent variable used in "classic" tests of catalepsy) was only prolonged at the highest dose (10 ng) of muscimol. The effects of the latter dose, which lasted at least 30 min, were inhibited by the GABA antagonist bicuculline (50 ng) for a minimum period of 5 min. The present data show that the GABA-ergic mechanisms within the striatal-pallidal complex are involved in hindlimb disturbances, forelimb disturbances and catalepsy, and that catalepsy requires a stronger dysfunctioning of these GABA-ergic mechanisms than do disturbances in hindlimbs and forelimbs.


Assuntos
Catalepsia/induzido quimicamente , Corpo Estriado/efeitos dos fármacos , Globo Pálido/efeitos dos fármacos , Muscimol/farmacologia , Animais , Bicuculina/farmacologia , Membro Anterior/efeitos dos fármacos , Membro Posterior/efeitos dos fármacos , Injeções , Masculino , Muscimol/administração & dosagem , Ratos , Ratos Endogâmicos , Ácido gama-Aminobutírico/farmacologia
15.
Peptides ; 15(2): 229-36, 1994.
Artigo em Inglês | MEDLINE | ID: mdl-8008627

RESUMO

The lasting effects of a 9-day neonatal exposure to vasopressin and oxytocin were examined in the rat to discover if peptide administration results in organizational effects. When tested in young adulthood, brain growth, not body growth, appeared to be impaired. Basal and challenge tests of urine production, carried out to see the development of the hormonal antidiuretic function of vasopressin, revealed no lasting changes, and therefore did not confirm earlier findings of an induced mild polyurea. Behavioral testing of learning by making use of a one-trail step-through paradigm with a 24-h retention trial--a test that is sensitive to vasopressin--did not show impairments. Open field tests, however, showed enhanced emotionality in the vasopressin-treated females, as well as an initially increased ambulation in the males, and increased grooming in both sexes, the latter also having been reported to be induced by vasopressin administration in the septal areas. Oxytocin treatment did not produce lasting changes. Our conclusion, therefore, is that peripherally circulating vasopressin can affect the organizational development of the rat brain. It remains to be established whether this is an effect obtained through changes in the general peripheral physiology or a reflection of plasticity phenomena at the level of central vasopressin neurotransmission.


Assuntos
Comportamento Animal/efeitos dos fármacos , Encéfalo/efeitos dos fármacos , Encéfalo/crescimento & desenvolvimento , Ocitocina/farmacologia , Vasopressinas/farmacologia , Animais , Animais Recém-Nascidos , Peso Corporal/efeitos dos fármacos , Olho/efeitos dos fármacos , Feminino , Aprendizagem/efeitos dos fármacos , Masculino , Ratos , Ratos Wistar , Retenção Psicológica/efeitos dos fármacos , Caracteres Sexuais , Urina/fisiologia , Vasopressinas/metabolismo
16.
Brain Res ; 364(1): 77-90, 1986 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-3004649

RESUMO

The present study provides a detailed report about similarities and dissimilarities between the effects of neostriatally applied dopaminergic (apomorphine, 250-300 ng; haloperidol, 250-500 ng), cholinergic (carbachol, 50-100 ng; scopolamine, 200-500 ng), and GABAergic (muscimol, 1-2 ng; bicuculline, 5-35 ng) drugs upon swimming of rats. The used swimming test consisted of 4 parts: (a) open-field test for analyzing drug-induced changes in normal behavior; (b) 'swimming without escape' test for analyzing drug-induced changes in the ability to switch from one type of behavior to another; (c) 'swimming with escape' test for analyzing drug-induced changes in the ability to switch from ongoing swimming behavior to climbing behavior by allowing the rats to escape via a rope; and (d) 'rope' test for analyzing drug-induced changes in the kind of contact behaviors needed to switch to the latter climbing behavior. In the open-field test the drugs produced neither abnormal behavior nor motor disturbances, which prevented the display of normal behavior in the remaining tests. Both apomorphine and carbachol produced identical effects in all tests. Muscimol produced overall effects which were not only opposite to those of apomorphine and carbachol, but also comparable to those of scopolamine. All effects elicited by apomorphine, carbachol and muscimol were antagonized by their corresponding antagonists: haloperidol, scopolamine and bicuculline respectively, whereas the effects of the latter were suppressed by their corresponding agonists. These data globally show that dopamine and acetylcholine act in the same direction but opposite to that of GABA as far as it concerns the regions investigated. The finding that haloperidol injected into the GABA target area produced effects which were not only similar to those of haloperidol injected into the dopamine target area, but also dissimilar to those of muscimol and bicuculline injected into the GABA target area, shows that the effects were drug-specific rather than region-specific. Though 3 distinct cholinergic regions were investigated, cholinergic-specific effects could only be elicited from one region, suggesting that the neostriatum is heterogeneous in this respect. Finally, well-delineated dissimilarities between haloperidol-, scopolamine-, and muscimol-treated rats were found in the rope test. These data show that behavior-relevant information transmitted by GABAergic drugs surmounted that transmitted by cholinergic drugs which, in turn, surmounted behavior-relevant information transmitted by dopaminergic drugs.


Assuntos
Acetilcolina/fisiologia , Corpo Estriado/efeitos dos fármacos , Dopamina/fisiologia , Atividade Motora/efeitos dos fármacos , Ácido gama-Aminobutírico/fisiologia , Animais , Mapeamento Encefálico , Corpo Estriado/fisiologia , Haloperidol/farmacologia , Masculino , Ratos , Ratos Endogâmicos , Natação , Transmissão Sináptica
17.
Ned Tijdschr Geneeskd ; 138(13): 670-1, 1994 Mar 26.
Artigo em Holandês | MEDLINE | ID: mdl-8152498

RESUMO

A woman aged 45 years who had undergone laparoscopic cholecystectomy a little over one year previously complained of progressive dysmenorrhoea, dyspareunia and disorder of the cycle; she also had palpable nodules in the recto-uterine pouch. At vaginal hysterectomy, 15 gallstones were found in the recto-uterine and vesicouterine pouches. Problems of radiological diagnosis in cases of gallstones in the true pelvis after laparoscopic cholecystectomy have been reported before.


Assuntos
Colecistectomia Laparoscópica/efeitos adversos , Colelitíase/complicações , Dispareunia/etiologia , Colelitíase/cirurgia , Feminino , Humanos , Histerectomia Vaginal , Pessoa de Meia-Idade
18.
Ned Tijdschr Geneeskd ; 148(41): 2016-9, 2004 Oct 09.
Artigo em Holandês | MEDLINE | ID: mdl-15553997

RESUMO

In a newborn infant, frequent bowel movements diminish the enterohepatic circulation of bilirubin, thereby increasing bilirubin excretion. In breastfed newborn infants, the frequency of latching on and administration of supplementary feeds are associated with serum bilirubin concentrations. Frequent breast feeding (at least 8 times a day) and fewer supplementary feeds will result in increased breast milk intake, less weight loss, and lower bilirubin concentrations. In the case of a breastfed infant presenting with neonatal hyperbilirubinaemia, the advice should be to breastfeed more frequently and to withhold supplementary feedings. An icteric newborn infant should be seen and weighed daily. If the infant has lost more than 10% of its birth weight, drinks poorly, or fails to gain weight despite latching onto the breast frequently, it should be referred to the paediatrician for further diagnosis and treatment. To ensure optimal production of breast milk during the first days after birth, early latching on is recommended, preferably within one hour after birth.


Assuntos
Aleitamento Materno , Icterícia Neonatal/prevenção & controle , Bilirrubina/sangue , Humanos , Recém-Nascido , Icterícia Neonatal/epidemiologia , Redução de Peso
19.
Neth J Med ; 71(8): 418-25, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24127502

RESUMO

PURPOSE: Understanding which pathogens are associated with clinical manifestation of community-acquired pneumonia (CAP) is important to optimise treatment. We performed a study on the aetiology of CAP and assessed possible implications for patient management in the Netherlands. METHODS: Patients with CAP attending the emergency department of a general hospital were invited to participate in the study. We used an extensive combination of microbiological techniques to determine recent infection with respiratory pathogens. Furthermore, we collected data on clinical parameters and potential risk factors. RESULTS: From November 2007 through January 2010, 339 patients were included. Single bacterial infection was found in 39% of these patients, single viral infection in 12%, and mixed bacterial-viral infection in 11%. Streptococcus pneumoniae was the most frequently identified pathogen (22%; n=74). Infection with atypical bacteria was detected in 69 (20%) of the patients. CONCLUSION: Initial empirical antibiotics should be effective against S. pneumoniae, the most common pathogen identified in CAP patients. The large proportion of patients with infection with atypical bacteria points to the need for improved diagnostic algorithms including atypical bacteria, especially since these atypical bacteria are not covered by the first-choice antibiotic treatment according to the recently revised Dutch guidelines on the management of CAP.


Assuntos
Antibacterianos/uso terapêutico , Pneumonia Bacteriana/microbiologia , Pneumonia Viral/virologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Infecções Comunitárias Adquiridas/tratamento farmacológico , Infecções Comunitárias Adquiridas/microbiologia , Infecções Comunitárias Adquiridas/virologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Países Baixos , Pneumonia Bacteriana/tratamento farmacológico , Pneumonia Viral/tratamento farmacológico , Guias de Prática Clínica como Assunto , Estudos Prospectivos , Adulto Jovem
20.
Mitochondrion ; 10(5): 528-33, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20573558

RESUMO

A higher incidence of depression has been described in adults with primary oxidative phosphorylation disease. We evaluated the psychological characteristics of eighteen non-retarded pediatric patients diagnosed with a disorder of the oxidative phosphorylation. We found significantly higher rate of withdrawn, depressive behaviour compared to population norm scores, to children with other types of inborn errors of metabolism and also in comparison to patients with Sotos syndrome. The occurrence of depressive behaviour showed no correlation with the degree of mitochondrial dysfunction. These findings support the hypothesis that mood disorders could be associated to abnormal cerebral energy metabolism.


Assuntos
Depressão/epidemiologia , Doenças Mitocondriais/complicações , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Entrevista Psicológica , Masculino , Fosforilação Oxidativa
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