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1.
BMC Public Health ; 24(1): 933, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38561712

RESUMO

BACKGROUND: Grounded in Bourdieu's theory of human practice, this study aims to examine how individuals as social agents made sense of and acted upon their COVID-19 experiences. A recent conceptualization of health capital is utilized to explain the practices of patients in the pandemic, in relation to their biographical background. METHODS: This is a qualitative research in which the data were collected by biographical narrative interviews through a theoretical sampling approach. Eighteen interviews with COVID-19 patients were conducted and 8 of them were analyzed by the Documentary Method. RESULTS: The informants made sense of their illness experiences through their health capital, which is manifested in their self-perception of health, their attitudes towards the healthcare system, their conception of terms such as luck, their work status, and the gendered division of labour at home in the COVID-19 pandemic. All the manifestations are mediated by the social, cultural, and economic capital of the informants, and their habitual practices are based on their symbolic capital. CONCLUSION: The study depicts how social agents' health capital manifested in the pandemic, relying on their symbolic capital, and shaping their practices. Further research across diverse contexts is needed to fully understand extra dimensions of health capital as a descriptor of the social determinants of health.


Assuntos
COVID-19 , Pandemias , Humanos , Pesquisa Qualitativa , Identidade de Gênero , Autoimagem
2.
Niger J Clin Pract ; 25(7): 1149-1157, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35859477

RESUMO

Background and Aims: This experimental study was designed to test the hypothesis that ondansetron, a selective 5-HT3 receptor antagonist, would decrease the duration of motor, sensory, and proprioception blockade in a dose-dependent fashion in a bupivacaine-induced sciatic nerve blockade. Materials and Methods: Forty-nine male Wistar Albino rats who underwent unilateral sciatic nerve block were divided into seven groups with an equal number in each group. Group B: only perineural block (PB), Group BO200: PB and perineural 200 µg ondansetron, Group BO400: PB and perineural 400 µg ondansetron, Group BO800: PB and perineural 800 µg ondansetron, Group BO800IP: PB and intraperitoneal 800 µg ondansetron, Group O800: only perineural 800 µg ondansetron, Group S: sham-operated. The rats' motor, sensory, and proprioception functions were evaluated by a blinded investigator every 10 min until they returned to normal function. The recovery times of the motor, sensory, and proprioception functions were recorded and compared. All sciatic nerves were removed and examined by electron microscopy for neurotoxic signs. Results: In which sciatic nerve block was formed with bupivacaine, the duration of the motor, sensory, and proprioception functions blockade was decreased, and the duration to return to normal functions was significantly shortened at Group BO800 (p < 0.05). According to electron microscopy results, perineural 200 µg, 400 µg, and 800 µg ondansetron were not neurotoxic. Conclusion: This is the first study showing that perineural ondansetron administration (800 µg dose) reverses the effect of the local anesthetics and shortens the duration of the motor, sensory, and proprioception functions blockade.


Assuntos
Bupivacaína , Bloqueio Nervoso , Animais , Masculino , Bloqueio Nervoso/métodos , Ondansetron/farmacologia , Ratos , Ratos Wistar , Nervo Isquiático/fisiologia
3.
Chronobiol Int ; 37(8): 1201-1206, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32752886

RESUMO

The maternal circadian time structure is incredibly important in the entrainment and programing of the fetal and newborn circadian time structure. Natural sunlight is the primary environmental time cue for entrainment of circadian rhythms, but high-risk pregnant women spend most of their time indoors with artificial light sources and extremely low levels of natural light both during the day and night. Because the daily level, timing, duration of light exposure and its spectral properties are important in maintaining the normal circadian physiology in humans, we aimed to evaluate the environmental lighting conditions in high-risk pregnant women admitted to hospital for long-term stay. About 30 patients were included in the study. Exposed illuminance, color temperature and effective circadian radiation dose were measured and recorded every 10 s by light dosimeters attached to the patients' clothing. We documented the illuminance of 29 pregnant women on 235 inpatient days. Median (IQR) measured illuminance was 70 (28-173) lux in the morning, 124 (63-241) lux in the afternoon, 19 (6-53) lux in the evening and 0 (0-0) lux at the night. Median illuminance for the 235 inpatient days of assessment was below the recommended EU standard of 100 lux-60.5% of the mornings and 42.7% of the afternoons. The women confined to indoor locations rarely achieved an illuminances more than 300 lux in the morning and in the afternoon. Compared to women with outdoor mobility, those confined indoors have a significantly lower illuminance and color temperature, both in the morning and in the afternoon. Our study presents the first information about the dramatically altered environmental lighting conditions experienced by high-risk pregnant women during their hospital stay. Their exposure to light while in the hospital is significantly lower than exposure to natural daylight levels and below the recommended EU standard.


Assuntos
Melatonina , Gravidez de Alto Risco , Ritmo Circadiano , Feminino , Hospitalização , Humanos , Recém-Nascido , Iluminação , Gravidez
4.
Chronobiol Int ; 37(7): 961-973, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32519912

RESUMO

Maternal circadian rhythms provide highly important input into the entrainment and programming of fetal and newborn circadian rhythms. The light-dark cycle is an important regulator of the internal biological clock. Even though pregnant women spend a greater part of the day at home during the latter stages of pregnancy, natural light exposure is crucial for the fetus. The current recommended COVID-19 lockdown might dramatically alter normal environmental lighting conditions of pregnant women, resulting in exposure to extremely low levels of natural daylight and high-intensity artificial light sources during both day and night. This article summarizes the potential effects on pregnant woman and their fetuses due to prolonged exposure to altered photoperiod and as consequence altered circadian system, known as chronodisruption, that may result from the COVID-19 lockdown.


Assuntos
Betacoronavirus/patogenicidade , Ritmo Circadiano/fisiologia , Infecções por Coronavirus/virologia , Pneumonia Viral/virologia , Complicações Infecciosas na Gravidez/virologia , COVID-19 , Relógios Circadianos/fisiologia , Feminino , Feto/virologia , Humanos , Melatonina/metabolismo , Melatonina/farmacologia , Pandemias , Gravidez , SARS-CoV-2
5.
Acta Gastroenterol Belg ; 79(1): 8-13, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26852757

RESUMO

INTRODUCTION: External radiotherapy is one of the main treatment modalities for a variety of malignancies. However, the lower gastrointestinal tract is sensitive to the ionizing radiation. Hyperbaric oxygen treatment (HOT) has been suggested as a viable treatment for refractory radiation colitis, but the effect of S-Methylisothiourea (SMT) in the radiation colitis have not reported. To investigate the effect of SMT, HOT and the combination of both in an acute radiation-induced enterocolitis model. METHODS: Sixty Sprague-Dawley rats were divided randomly into five equal groups. A single dose of gamma irradiation (25 Gy) was administered through the colorectal region to anesthetized rats. In the control group, we applied 2 ml of saline solution intraperitoneally for five days. In the HOT group, 100-per-cent oxygen at 2.5 atm pressure was applied for five days. In the SMT group, 10 mg/kg/day of SMT was applied intraperitoneally for five days. In the HOT+SMT group, HOT and SMT were both applied in the same dosages as in the preceding two groups. At the end of five days, the rats were sacrificed and colon samples were collected for histological grading. Blood samples were collected to test for : tumor necrosis factor-α (TNF-α), interleukin-10 (IL-10), IL-1ß, transforming growth factor-ß (TGF-ß) and intercellular adhesion molecule-1 (ICAM-1) mRNA. RESULTS: The TNF-α, IL-1ß, IL-10 and TGF-ß levels were reduced by SMT, HOT and HOT+SMT applications (p < 0.05). However ICAM-1 mRNA levels were not significantly lower (p:0.19). The microscopic scores differed significantly between the SMT, HOT and HOT+SMT groups and the control group. There was significant improvement histologically, especially in the HOT+SMT group. When we compared the weight of the rats before and after the study, weight loss was significantly lower in the SMT, HOT and HOT+SMT groups compared with the control group (p < 0.05). CONCLUSION: HOT and SMT together were significantly more effective in preventing weight loss and in reducing inflammation and the severity of colitis histology when compared with HOT and SMT separately.


Assuntos
Colite/terapia , Colo/efeitos dos fármacos , Inibidores Enzimáticos/farmacologia , Oxigenoterapia Hiperbárica , Isotiurônio/análogos & derivados , Óxido Nítrico Sintase Tipo II/antagonistas & inibidores , Animais , Colite/imunologia , Colite/patologia , Colo/imunologia , Colo/patologia , Feminino , Molécula 1 de Adesão Intercelular/efeitos dos fármacos , Molécula 1 de Adesão Intercelular/imunologia , Interleucina-10/imunologia , Interleucina-1beta/efeitos dos fármacos , Interleucina-1beta/imunologia , Isotiurônio/farmacologia , Lesões Experimentais por Radiação/imunologia , Lesões Experimentais por Radiação/patologia , Ratos , Ratos Sprague-Dawley , Fator de Crescimento Transformador beta/efeitos dos fármacos , Fator de Crescimento Transformador beta/imunologia , Fator de Necrose Tumoral alfa/efeitos dos fármacos , Fator de Necrose Tumoral alfa/imunologia
6.
Dis Esophagus ; 29(8): 1032-1042, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26541887

RESUMO

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) and anorectal malformations (ARM) represent the severe ends of the fore- and hindgut malformation spectra. Previous research suggests that environmental factors are implicated in their etiology. These risk factors might indicate the influence of specific etiological mechanisms on distinct developmental processes (e.g. fore- vs. hindgut malformation). The present study compared environmental factors in patients with isolated EA/TEF, isolated ARM, and the combined phenotype during the periconceptional period and the first trimester of pregnancy in order to investigate the hypothesis that fore- and hindgut malformations involve differing environmental factors. Patients with isolated EA/TEF (n = 98), isolated ARM (n = 123), and the combined phenotype (n = 42) were included. Families were recruited within the context of two German multicenter studies of the genetic and environmental causes of EA/TEF (great consortium) and ARM (CURE-Net). Exposures of interest were ascertained using an epidemiological questionnaire. Chi-square, Fisher's exact, and Mann-Whitney U-tests were used to assess differences between the three phenotypes. Newborns with isolated EA/TEF and the combined phenotype had significantly lower birth weights than newborns with isolated ARM (P = 0.001 and P < 0.0001, respectively). Mothers of isolated EA/TEF consumed more alcohol periconceptional (80%) than mothers of isolated ARM or the combined phenotype (each 67%). Parental smoking (P = 0.003) and artificial reproductive techniques (P = 0.03) were associated with isolated ARM. Unexpectedly, maternal periconceptional multivitamin supplementation was most frequent among patients with the most severe form of disorder, i.e. the combined phenotype (19%). Significant differences in birth weight were apparent between the three phenotype groups. This might be attributable to the limited ability of EA/TEF fetuses to swallow amniotic fluid, thus depriving them of its nutritive properties. Furthermore, the present data suggest that fore- and hindgut malformations involve differing environmental factors. Maternal periconceptional multivitamin supplementation was highest among patients with the combined phenotype. This latter finding is contrary to expectation, and warrants further analysis in large prospective epidemiological studies.


Assuntos
Malformações Anorretais/etiologia , Atresia Esofágica/etiologia , Fístula Traqueoesofágica/etiologia , Adolescente , Adulto , Consumo de Bebidas Alcoólicas/efeitos adversos , Malformações Anorretais/epidemiologia , Peso ao Nascer , Distribuição de Qui-Quadrado , Criança , Pré-Escolar , Suplementos Nutricionais/efeitos adversos , Atresia Esofágica/epidemiologia , Feminino , Alemanha/epidemiologia , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Masculino , Mães/estatística & dados numéricos , Fenótipo , Gravidez , Cuidado Pré-Natal/estatística & dados numéricos , Efeitos Tardios da Exposição Pré-Natal/etiologia , Fenômenos Fisiológicos da Nutrição Pré-Natal , Técnicas de Reprodução Assistida/efeitos adversos , Fatores de Risco , Fumar/efeitos adversos , Estatísticas não Paramétricas , Fístula Traqueoesofágica/epidemiologia , Vitaminas/efeitos adversos
8.
Acta Gastroenterol Belg ; 78(2): 256-8, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26151703

RESUMO

We showed in this study that rifampicin therapy is more effective than plasmapheresis and steroid treatment in diseases associated with severe hyperbilirubinemia. In our opinion, rifampicin treatment may suitable especially for patients with persistent hyperbilirubinemia, and it would be appropriate to use rifampicin as a challenge therapy to patients with severe hyperbilirubinemia, but liver function tests in these patients must be monitored closely.


Assuntos
Indutores do Citocromo P-450 CYP3A/uso terapêutico , Hiperbilirrubinemia/tratamento farmacológico , Rifampina/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
9.
Neurogastroenterol Motil ; 27(7): 936-44, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25869205

RESUMO

BACKGROUND: Recent studies showed that the pharmacological inhibition of endocannabinoid degrading enzymes such as fatty acid amide hydrolase (FAAH) and monoacyl glycerol lipase (MAGL) elicit promising analgesic effects in a variety of nociceptive models without serious side effects. However, the full spectrum of activities is not observed upon inhibition of either FAAH or MAGL enzymes alone and thus dual FAAH and MAGL inhibitors have been described. Visceral pain is strongly associated with inflammation and distension of the gut. Thus, we explored the comparable effects of FAAH, MAGL, and dual FAAH/MAGL inhibitors on inflammatory and mechanically evoked visceral pain models. METHODS: Visceral inflammatory and distension-induced pain were assessed with the 0.6% acetic acid writhing test in mice and colorectal distension (CRD) test in rats, respectively. The selective FAAH inhibitor PF 3845, MAGL inhibitor JZL 184, dual inhibitor JZL 195, and the cannabis analog CP 55,940 were given systemically 30 min prior to nociceptive testing. KEY RESULTS: PF 3845 (5, 10, and 20 mg/kg), JZL 184 (5, 10, and 20 mg/kg), and JZL 195 (5, 10, and 20 mg/kg) elicit dose-dependent antinociceptive in the acetic acid writhing test. In the CRD model, while JZL 195 (5, 10, or 20 mg/kg) and PF3845 (10, 20, and 40 mg/kg) produced dose-dependent antinociceptive effects comparable to those of CP 55,940 (0.1, 0.3, or 1 mg/kg), JZL 184 (10, 20, and 40 mg/kg) alone did not alter the visceromotor response (VMR). CONCLUSIONS & INFERENCES: The selective FAAH inhibitor and dual FAAH/MAGL inhibitors were effective in both inflammatory and mechanically evoked visceral pain, while the MAGL inhibitor elicited an analgesic effect in inflammatory, but not in distension-induced, visceral pain.


Assuntos
Amidoidrolases/antagonistas & inibidores , Colo/efeitos dos fármacos , Inflamação/tratamento farmacológico , Monoacilglicerol Lipases/antagonistas & inibidores , Dor Visceral/tratamento farmacológico , Animais , Benzodioxóis/farmacologia , Benzodioxóis/uso terapêutico , Carbamatos/farmacologia , Carbamatos/uso terapêutico , Colo/metabolismo , Colo/fisiopatologia , Cicloexanóis/farmacologia , Cicloexanóis/uso terapêutico , Inflamação/metabolismo , Inflamação/fisiopatologia , Masculino , Camundongos , Camundongos Endogâmicos BALB C , Medição da Dor , Piperazinas/farmacologia , Piperazinas/uso terapêutico , Piperidinas/farmacologia , Piperidinas/uso terapêutico , Piridinas/farmacologia , Piridinas/uso terapêutico , Ratos , Ratos Sprague-Dawley , Dor Visceral/metabolismo , Dor Visceral/fisiopatologia
10.
Klin Padiatr ; 224(4): 259-65, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22815129

RESUMO

Pulse oximetry is an essential diagnostic method in pediatric emergency medicine and pediatric intensive care. However, if undetected hemoglobin anomalies are the underlying cause measurements of low oxygen saturation can be interpreted incorrectly or may lead to unnecessary examinations. In 2 recently discovered hemoglobin anomalies, Hb Bonn and Hb Venusberg, this resulted in extensive and repeat cardiopulmonary examinations. This review aims to provide an overview of hemoglobin anomalies causing low oxygen saturation.We describe the methods required for differential diagnosis of hemoglobin anomalies, such as hemoglobin electrophoresis, High Performance Liquid Chromatography, hemoglobin gene sequencing and spectral photometry, and the difficulties with the interpretation of results. Furthermore, with a review of the literature we provide an extensive overview of hemoglobin anomalies which result in low oxygen saturation measurement in pulse oximetry. With the examples of Hb Bonn, a novel hemoglobin mutation of the proximal α1-globin, which results in false low pulse oximetry measurements of oxygen saturation, and Hb Venusberg, a low oxygen-affine hemoglobin mutation of the ß-globin, we highlight the difficulties arising from the respective case histories.In pediatric medicine, hemoglobin anomalies must be included in the diagnosis as a possible underlying cause of low oxygen saturation in case of ambiguous or conflicting pulse oximetry findings.


Assuntos
Hemoglobinopatias/diagnóstico , Hemoglobinas Anormais , Oximetria , Adolescente , Adulto , Eletroforese das Proteínas Sanguíneas , Criança , Pré-Escolar , Cromatografia Líquida de Alta Pressão , Diagnóstico Diferencial , Reações Falso-Positivas , Feminino , Hemoglobina Fetal/análise , Hemoglobina A/análise , Hemoglobina A2/análise , Hemoglobinopatias/sangue , Hemoglobinopatias/genética , Hemoglobinas Anormais/genética , Humanos , Hipóxia/sangue , Hipóxia/diagnóstico , Hipóxia/genética , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Valores de Referência
11.
Cytogenet Genome Res ; 136(4): 308-13, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22433391

RESUMO

Carriers of completely balanced chromosomal translocations have all necessary genetic information. Nevertheless, because of the possibility of maldistribution during gametogenesis, they are at increased risk for infertility, miscarriage, stillbirth or having a child with congenital anomalies including mental retardation. As postnatal clinical reports are infrequent, prediction of clinical course for specific unbalanced karyotypes diagnosed during pregnancy remains difficult. Here, we report the 6th case of partial trisomy 6p and partial monosomy 20p due to an unbalanced adjacent-1 segregation of the rare familial translocation t(6;20)(p21;p13). We give a thorough clinical description of the present case, demonstrating broad phenotypic overlap with the 5 previously published cases reviewed here, providing important data on postnatal outcome.


Assuntos
Translocação Genética , Trissomia/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Adulto , Bandeamento Cromossômico , Deleção Cromossômica , Coloração Cromossômica , Cromossomos Humanos Par 20/genética , Cromossomos Humanos Par 6/genética , Feminino , Humanos , Lactente , Cariotipagem , Masculino , Linhagem , Fenótipo , Gravidez
13.
Transplant Proc ; 43(3): 912-6, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21486627

RESUMO

AIM: Liver transplantation (OLT) has become the treatment of choice for end-stage liver failure, as well as for selected cases of malignancies and metabolic disorders. Decreased postoperative complications and mortality rates are expected to correlate with improvements in the interdisciplinary team approach, the perioperative anesthesiologic and intensive care management, and careful follow-up after transplantation. In this study, we have evaluated the effect of gained experience on postoperative complications and mortality in cadaveric OLT performed in our institution. MATERIALS AND METHODS: Data from cadaveric OLT patients (n = 34) since 2003 were retrospectively evaluated. Patients were divided into 2 groups: Early (2003-2006; n = 15) and late (2007-2010; n = 19). Age, gender, cold and warm ischemia times, intraoperative transfusion rates, infectious complications, biliary and vascular complication rates, and early and late postoperative mortality rates were compared in the 2 groups. RESULTS: The age and gender distribution was similar among both groups. Mean cold and warm ischemia times, intraoperative transfusion rates, and operative times were significantly lower in the late period group (P = .004, .012, and 0.008, respectively; CI=%95). T-tube usage was also significantly lower in the late period group (P < .001). There was no significant change for postoperative intensive care period (P = .404), but the overall length of stay in hospital was shorter for the patients in the late period group (P = .019). The nonsurgical early postoperative complication rate was lower (P = .001) and early postoperative mortality was nearly significant (P = .06) in patients who comprised the late period group. There was no difference in terms of biliary and vascular complication rates and overall survival rates between patients in the early and late groups (P = .664, .264, and .107, respectively). CONCLUSION: Our results indicate that the institutional improvements toward an interdisciplinary team approach in cadaveric OLT correlate with better results in ischemia and operative times and lower intraoperative transfusion rates and hospital stays. Early postoperative complication and mortality rates were found to decline in parallel to the team experience.


Assuntos
Cadáver , Transplante de Fígado/efeitos adversos , Complicações Pós-Operatórias , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
14.
Eur J Clin Microbiol Infect Dis ; 29(9): 1079-84, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20563830

RESUMO

The clinical presentation of the viral enteric pathogens in newborn infants has not been adequately examined. The aim of this study was to evaluate the clinical characteristics of viral intestinal infections in newborn infants. Clinical data of all term and preterm infants admitted to our tertiary neonatal intensive care unit from 1998 to 2007 with clinical signs of gastroenteritis (GE) or necrotizing enterocolitis (NEC) were retrospectively reviewed and compared between infants with different viral enteric pathogens in stool specimens. In 34 infants with signs of GE or NEC, enteropathogenic viruses were found in stool specimens. Rotavirus was detected in 12 cases, of which two infants had NEC. Compared with infants with rotavirus or norovirus, infants with astrovirus more frequently suffered from NEC (p<0.05). In addition, an acute systemic inflammatory response was significantly more common in patients with astrovirus infection (astrovirus vs. rotavirus and astrovirus vs. norovirus, p < 0.01 and p < 0.05, respectively). Of eight children infected with norovirus, one infant had a systemic acute inflammatory response and NEC. This study demonstrates that in newborn infants, intestinal rotavirus, norovirus, and astrovirus infections may be associated with severe illness such as hemorrhagic enteritis resulting in bloody diarrhea or even NEC.


Assuntos
Infecções por Astroviridae/patologia , Infecções por Caliciviridae/patologia , Gastroenterite/patologia , Gastroenterite/virologia , Infecções por Rotavirus/patologia , Infecções por Astroviridae/complicações , Infecções por Caliciviridae/complicações , Fezes/virologia , Gastroenterite/complicações , Humanos , Recém-Nascido , Masculino , Mamastrovirus/isolamento & purificação , Norovirus/isolamento & purificação , Nascimento Prematuro , Estudos Retrospectivos , Rotavirus/isolamento & purificação , Infecções por Rotavirus/complicações , Síndrome de Resposta Inflamatória Sistêmica/epidemiologia
18.
BMJ Case Rep ; 20092009.
Artigo em Inglês | MEDLINE | ID: mdl-21686393

RESUMO

Pyridox(am)ine-5'-phosphate oxidase converts pyridoxine phosphate and pyridoxamine phosphate to pyridoxal phosphate, a cofactor in many metabolic reactions, including neurotransmitter synthesis. A family with a mutation in the pyridox(am)ine-5'-phosphate oxidase gene presenting with neonatal seizures unresponsive to pyridoxine and anticonvulsant treatment but responsive to pyridoxal phosphate is described. Pyridoxal phosphate should be considered in neonatal epileptic encephalopathy unresponsive to pyridoxine.

20.
Arch Dis Child Fetal Neonatal Ed ; 93(2): F151-2, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18296573

RESUMO

Pyridox(am)ine-5'-phosphate oxidase converts pyridoxine phosphate and pyridoxamine phosphate to pyridoxal phosphate, a cofactor in many metabolic reactions, including neurotransmitter synthesis. A family with a mutation in the pyridox(am)ine-5'-phosphate oxidase gene presenting with neonatal seizures unresponsive to pyridoxine and anticonvulsant treatment but responsive to pyridoxal phosphate is described. Pyridoxal phosphate should be considered in neonatal epileptic encephalopathy unresponsive to pyridoxine.


Assuntos
Encefalopatias/genética , Análise Mutacional de DNA/métodos , Epilepsia/genética , Mutação/genética , Fosfato de Piridoxal/análogos & derivados , Piridoxaminafosfato Oxidase/genética , Encefalopatias/tratamento farmacológico , Pré-Escolar , Consanguinidade , Eletroencefalografia/métodos , Epilepsia/tratamento farmacológico , Evolução Fatal , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Fosfato de Piridoxal/genética
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