RESUMO
Brazilians form one of the most heterogeneous populations in the world, as the result of five centuries of miscegenation between its native populations with migrants from Europe, Africa and Asia. The present study intended to characterize the frequencies of mtDNA haplotypes in a dataset of 306 individuals from Brasília, Federal District of Brazil. Brasília was built from scratch in the late 1950s and its construction attracted migrants from different regions of Brazil, mostly from Central-West, Northeast and Southeast regions. Due to its formation, its population is admixed. The goal of this study was to collect mtDNA population data and contribute to databases for a better use of mtDNA for forensic purposes. The haplotypes are available at EMPOP website under accession number EMP00695.
Assuntos
DNA Mitocondrial/genética , Variação Genética , Genética Populacional , Haplótipos , Brasil , Impressões Digitais de DNA , Humanos , Reação em Cadeia da PolimeraseRESUMO
Recently, Brazilian Federal Police used forensic chemistry and forensic botany techniques on a case. Two packets containing fragmented plant matter were seized and sent for forensic analysis. Forensic chemistry, the gold standard for evaluating plant material suspected to contain illicit substances, did not find illicit materials. Gas chromatography coupled mass spectrometry (GC-MS) identified thujone in the botanical material. Thujone is a chemical compound naturally found in many plant species, notably Artemisia absinthium. Because doubt remained, we next used plant DNA barcoding methods. Total DNA from plant tissue fragments was extracted and five different DNA regions were amplified, sequenced, and analyzed using plant DNA barcoding methods. Genetic analysis yielded 30 good quality sequences representing five taxa. Most specimens were identified as A. absinthium. Few studies focus on practical forensic applications of plant DNA barcoding methods using a case solved in a forensic laboratory with its difficulties and limitations. To the best of our knowledge, this is the first study to report an effective joint effort of forensic chemistry and botany techniques to assess plant material in Brazil. The availability of a new technical approach for the genetic sequencing of plant species will enhance many forensic investigations and inspire similar initiatives.
Assuntos
Código de Barras de DNA Taxonômico/métodos , DNA de Plantas/genética , Genética Forense/métodos , Artemisia/química , Artemisia/genética , Monoterpenos Bicíclicos , Brasil , Drogas Ilícitas/química , Monoterpenos/análiseRESUMO
Epingaione (4-Methyl-1-(5-methyl-2, 3,4,5-tetrahydro-[2,3']bifuranyl-5-yl)-pentan-2-one) was isolated as one of the major lipophilic secondary metabolites from the leaves and stems of Bontia daphnoides L. The compound gave 79.24% and 50.83% anti-proliferation/cytotoxic activity on the human SH-SY5Y neuroblastoma and TE-671 sarcoma cells in vitro at 50 pg/mL, respectively. Epingaione was transformed into eleven derivatives under laboratory conditions using ethanol, some gave greater anti-proliferation/cytotoxic activity on the cancer cell lines tested. One of the derivatives (compound 2) with enhanced cytotoxic activity was elucidated as 5'-Ethoxy-5-methyl-5-(4-methyl-2-oxo-pentyl)-2,3,4,5-tetrahydro-5'H-[2,3']bifuranyl-2'-one. Both epingaione and compound 2 caused an accumulation of arrested or dead SH-SY5Y neuroblastoma in the m-phase of the cell cycle as revealed by the m-phase specific marker KE 67.
Assuntos
Furanos/farmacologia , Myoporaceae , Neuroblastoma/tratamento farmacológico , Pentanonas/farmacologia , Fitoterapia , Sarcoma/tratamento farmacológico , Linhagem Celular Tumoral , Proliferação de Células/efeitos dos fármacos , Sobrevivência Celular , Ensaios de Seleção de Medicamentos Antitumorais , Furanos/química , Humanos , Pentanonas/química , Extratos Vegetais/química , Extratos Vegetais/farmacologia , Folhas de Planta , Caules de PlantaRESUMO
The data compiled in the present review on dibenzyl trisulphide (DTS) isolated from Petiveria alliacea L (the guinea hen weed or anamu) revealed that the compound and its derivatives could be of tremendous pharmaceutical interest. The mode of action elucidated for DTS revealed that it is a mitogen activated protein extracellular regulated kinases 1 and 2 (MAPKinases erk1 and erk 2) signal transduction molecule. Dibenzyl trisulphide caused hyper-phosphorylation of growth factor induced MAPKinases (erk 1 and erk 2) phosphorylation, a process critical for the improvement of long term memory, and is implicated in neuronal growth. Dibenzyl trisulphide and its derivatives exhibited potent anti-proliferation/cytotoxic activity on a wide range of cancer cell lines. The cytotoxic activity of DTS was increased by 70-1000 fold when bound to albumin in vitro. Dibenzyl trisulphide seems to have a cytokine switching mechanism in which it down regulates cytokines from the Type I helper cells (Th -1 cell) pathway which contained several pro-inflammatory cytokines and up-regulates those on the Type 2 helper cells (Th-2) pathway. The trisulphide up-regulates some reticuloendothelial system parameters eg granulocyte counts and increased thymic and Peyer's patches masses via cell proliferation processes which are known to be regulated via the MAPKinase signal transduction pathway. When the zygotes ofAsternia pectinifera (Starfish) were exposed to DTS at concentration of 10 mM, a dose lethal to all cancer cells tested, it was observed that the sensitive process of protein biosynthesis was not affected Similarly, the proliferation of the HOFA human fibroblast, a noncancerous cell line, was not severely affected by DTS at 8.9 microM over seven days, a concentration also lethal to most cancer cell lines tested The implications of the findings will be highlighted in the present review.
Assuntos
Compostos de Benzil/uso terapêutico , Fitoterapia , Extratos Vegetais , Sulfetos/uso terapêutico , Antígenos CD/fisiologia , Compostos de Benzil/farmacologia , Caderinas/fisiologia , Humanos , Transdução de Sinais/efeitos dos fármacos , Sulfetos/farmacologia , Regulação para Cima/fisiologiaRESUMO
The data compiled in the present review on dibenzyl trisulphide (DTS) isolated from Petiveria alliacea L (the guinea hen weed or anamu) revealed that the compound and its derivatives could be of tremendous pharmaceutical interest. The mode of action elucidated for DTS revealed that it is a mitogen activated protein extracellular regulated kinases 1 and 2 (MAPKinases erk1 and erk 2) signal transduction molecule. Dibenzyl trisulphide caused hyper-phosphorylation of growth factor induced MAPKinases (erk 1 and erk 2) phosphorylation, a process critical for the improvement of long term memory, and is implicated in neuronal growth. Dibenzyl trisulphide and its derivatives exhibited potent anti-proliferation/cytotoxic activity on a wide range of cancer cell lines. The cytotoxic activity of DTS was increased by 70-1000 fold when bound to albumin in vitro. Dibenzyl trisulphide seems to have a cytokine switching mechanism in which it down regulates cytokines from the Type I helper cells (Th -1 cell) pathway which contained several pro-inflammatory cytokines and up-regulates those on the Type 2 helper cells (Th-2) pathway. The trisulphide up-regulates some reticuloendothelial system parameters eg granulocyte counts and increased thymic and Peyer's patches masses via cell proliferation processes which are known to be regulated via the MAPKinase signal transduction pathway. When the zygotes ofAsternia pectinifera (Starfish) were exposed to DTS at concentration of 10 mM, a dose lethal to all cancer cells tested, it was observed that the sensitive process of protein biosynthesis was not affected Similarly, the proliferation of the HOFA human fibroblast, a noncancerous cell line, was not severely affected by DTS at 8.9 microM over seven days, a concentration also lethal to most cancer cell lines tested The implications of the findings will be highlighted in the present review.
Los datos compilados en el presente estudio sobre el trisulfuro de dibencilo (TSD) aislado a partir de Petiveria alliacea L (yerba de Guinea, ó anamú) revelaron que el compuesto y sus derivados podrían tener extraordinario interés farmacéutico. El modo de acción esclarecido en el TSD, reveló que se trata de una molécula de transducción de señales de proteínas kinasas 1 y 2 (MAP quinasas ERk 1 y 2) reguladas extracelularmente y activadas por mitógenos. El trisulfuro de dibencilo causó hiperfosforilación de la fosforilación de las quinasas MAP (Erk 1 y 2) inducidas mediante factor de crecimiento, un proceso crítico para el mejoramiento de la memoria a largo plazo, y que está implicado en el crecimiento neuronal. El trisulfuro de dibencilo y sus derivados mostraron una poderosa actividad citotóxica y antiproliferativa en una amplia gama de líneas celulares de cáncer. La actividad citotóxica del TSD se incrementaba de 70 á 1000 veces, cuando se vinculaba a la albúmin in vitro. El trisulfuro de dibencilo parece poseer un mecanismo conmutador citoquínico que regula por decremento las citoquinas provenientes de la vía de las células auxiliares de tipo 1 (células Th-1), que contiene varias citoquinas pro-inflamatorias y regula por incremento las de la vía de las células auxiliares de tipo 2 (Th-2). El trisulfuro regula por incremento los parámetros del sistema reticuloendotelial, p.ej. los conteos de granulocitos y el aumento tanto de las masas tímicas como de las masas de placas de Peyer, a través de los procesos de proliferación celular, de los cuales se sabe que son regulados mediante la vía de la transducción de señales de la quinasa MAP. Cuando los cigotos de Asternia pectinifera (estrella de mar) fueron expuestos al TSD a una concentración de 10 mM una dosis letal para todas las células cancerosas sometidas a prueba se observó que el proceso sensible de biosíntesis de la proteína no era afectado. De modo similar, la proliferación del fibroblasto humano HOFA una línea celular no cancerosa no fue afectada severamente por el TSD a 8.9 µM en siete días una concentración letal para la mayoría de las líneas celulares cancerosas sometidas a prueba. Las implicaciones de los hallazgos se pondrán de relieve en el presente estudio
Assuntos
Humanos , Compostos de Benzil/uso terapêutico , Extratos Vegetais , Fitoterapia , Sulfetos/uso terapêutico , Antígenos CD/fisiologia , Caderinas/fisiologia , Compostos de Benzil/farmacologia , Regulação para Cima/fisiologia , Sulfetos/farmacologia , Transdução de Sinais/efeitos dos fármacosRESUMO
Epingaione (4-Methyl-1-(5-methyl-2, 3,4,5-tetrahydro-[2,3']bifuranyl-5-yl)-pentan-2-one) was isolated as one of the major lipophilic secondary metabolites from the leaves and stems of Bontia daphnoides L. The compound gave 79.24and 50.83anti-proliferation/cytotoxic activity on the human SH-SY5Y neuroblastoma and TE-671 sarcoma cells in vitro at 50 pg/mL, respectively. Epingaione was transformed into eleven derivatives under laboratory conditions using ethanol, some gave greater anti-proliferation/cytotoxic activity on the cancer cell lines tested. One of the derivatives (compound 2) with enhanced cytotoxic activity was elucidated as 5'-Ethoxy-5-methyl-5-(4-methyl-2-oxo-pentyl)-2,3,4,5-tetrahydro-5'H-[2,3']bifuranyl-2'-one. Both epingaione and compound 2 caused an accumulation of arrested or dead SH-SY5Y neuroblastoma in the m-phase of the cell cycle as revealed by the m-phase specific marker KE 67.
La epingaiona (4-Metil-1-(5-metil-2,3,4,5-tetrahidro-[2,3']bifuranil-5-il)-pentan-2-uno) fue aislada como uno de los principales metabolitos lipofilicos secundarios de las hojas y tallos de Bontia daphnoides L. El compuesto produjo 79.24 % y 50.83 % de actividad citotóxica/anti-proliferación sobre el neuroblastoma humano SH-SY5Y y las células del sarcoma TE-671 in vitro a 50 µg/mL, respectivamente. La epingaiona fue transformada en once derivados en condiciones de laboratorio, utilizando etanol. Algunos produjeron mayor actividad citotóxica y antiproliferativa sobre las líneas celulares cancerosas sometidas a ensayo. Uno de los derivados (compuesto 2) de elevada actividad citotóxica fue identificado como 5'-Etoxi-5-metil-5-(4-metil-2-oxo-pentil)-2,3,4,5-tetrahidro-5'H- [2,3']bifuranil-2'-uno. Tanto la epingaiona como el compuesto 22 causaron una acumulación de neuroblastomas SH-SY5Y muertos o detenidos en la fase m del ciclo celular, según lo revela el marcador KE 67 específico de la fase m.
Assuntos
Humanos , Fitoterapia , Furanos/farmacologia , Myoporaceae , Neuroblastoma/tratamento farmacológico , Pentanonas/farmacologia , Sarcoma/tratamento farmacológico , Caules de Planta , Ensaios de Seleção de Medicamentos Antitumorais , Extratos Vegetais/química , Extratos Vegetais/farmacologia , Folhas de Planta , Furanos/química , Linhagem Celular Tumoral , Pentanonas/química , Proliferação de Células/efeitos dos fármacos , Sobrevivência CelularRESUMO
UNLABELLED: Tyrosine supplementation has not consistently been found to improve neuropsychologic function in phenylketonuria (PKU), possibly because of failure to achieve adequate levels of tyrosine in the brain. OBJECTIVES: To evaluate blood levels achieved after tyrosine supplementation in treated PKU and calculate brain influxes of tyrosine and other large neutral amino acids before and with tyrosine supplementation. STUDY DESIGN: Ten subjects with PKU receiving a phenylalanine-restricted diet were studied over 48 hours; each received tyrosine supplementation (300 mg/kg) on day 2. Plasma phenylalanine and tyrosine were measured every 2 hours, and all free amino acids were measured every 6 hours. Brain influxes of tyrosine and other large neutral amino acids were calculated. RESULTS: Plasma tyrosine levels were low normal at baseline. With supplementation there was a substantial but unsustained rise in plasma tyrosine. Calculated brain influx of tyrosine was 27% +/- 19% of normal before supplementation, increasing to 90% +/- 58% of normal with supplementation. Nevertheless, calculated influx remained less than 70% of normal at 50% of the time points. The calculated brain influxes of all other large neutral amino acids except tryptophan were 20% to 40% of normal before and with tyrosine supplementation. CONCLUSIONS: Tyrosine supplementation in the diet for PKU produces marked but nonsustained increases in plasma tyrosine levels, with calculated brain influx that often remains suboptimal. This could explain the lack of consistent neuropsychologic benefit with tyrosine supplementation.
Assuntos
Fenilcetonúrias/tratamento farmacológico , Tirosina/uso terapêutico , Adulto , Aminoácidos/metabolismo , Encéfalo/metabolismo , Criança , Feminino , Humanos , Masculino , Tirosina/sangueRESUMO
STUDY OBJECTIVES: To describe the clinical features and laboratory abnormalities of 16 adults with confirmed Hantavirus pulmonary syndrome (HPS) due to Andes virus in Temuco, Chile. DESIGN: A retrospective chart review abstracting clinical, radiologic, laboratory, and epidemiologic data. SETTING: ICU of the university teaching hospital in Temuco, Chile. PATIENTS: Sixteen patients with HPS treated between 1997 and 1999. RESULTS: Patients were aged from 19 to 45 years, 82% were men, and 88% were farm or timber workers with occupational acquisition of HPS. After an incubation period ranging from 5 to 25 days, a prodromal influenza-like phase frequently was accompanied by abdominal symptoms. From 1 to 7 days later, respiratory insufficiency and hemodynamic instability suddenly appeared. In 81%, hemorrhage was evident; in 63%, moderate-to-severe bleeding occurred. The most prominent laboratory abnormalities were hemoconcentration, leukocytosis, thrombocytopenia, altered partial thromboplastin time (PTT), creatine kinase, transaminases, and hyponatremia. Creatinine elevation was common, with clinical importance in two patients. All patients had severe hypoxemia and pulmonary edema. Fifteen patients received supportive treatment, and 5 patients were treated with corticosteroids. The mortality rate was 43.8%. CONCLUSIONS: Bad prognostic factors appeared to be severe hypotension, lower PaO(2)/fraction of inspired oxygen values, prolonged PTT, hemorrhage, greater volume load, and profuse bronchorrhea. The effects of treatment with corticosteroids could not be determined. Hemorrhage and renal involvement were common in our patients, features not often described in the North American literature of Sin Nombre virus HPS.
Assuntos
Síndrome Pulmonar por Hantavirus/virologia , Adulto , Chile/epidemiologia , Feminino , Orthohantavírus , Síndrome Pulmonar por Hantavirus/diagnóstico , Síndrome Pulmonar por Hantavirus/epidemiologia , Síndrome Pulmonar por Hantavirus/terapia , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: A cohort of women with phenylketonuria (PKU) were selected to explore the impact of phenylalanine (Phe) levels and other factors on congenital heart defects (CHDs), microcephaly, and development of their offspring. STUDY DESIGN: Three hundred fifty-four women with PKU were followed up weekly with diet records, blood Phe levels, and sonograms obtained at 18 to 20 and 32 weeks' gestation. At birth, 413 offspring were examined and followed up at 6 months and annually by means of Bayley Mental Developmental Index and Psychomotor Developmental Index tests at 1 and 2 years. The women had Wechsler Adult Intelligence Scales and DNA testing. RESULTS: Thirty-one offspring had CHDs; of these, 17 also had microcephaly. Mean Phe levels at 4 to 8 weeks' gestation predicted CHDs (P <.0001). An infant with a CHD had a 3-fold risk of having microcephaly when the mother had higher Phe levels (P =.02). The Bayley Mental Developmental Index and Psychomotor Developmental Index scores correlated with both CHDs (P =.037 and.0015, respectively) and microcephaly (P =.0001 for both). No direct relationship to the PKU mutation was found. CONCLUSION: None of the women whose offspring had CHDs had blood Phe levels in control during the first 8 weeks of gestation. Women with PKU need to be well controlled on a low-phenylalanine diet before conception and throughout pregnancy.
Assuntos
Deficiências do Desenvolvimento/etiologia , Cardiopatias Congênitas/etiologia , Microcefalia/etiologia , Fenilcetonúrias/complicações , Complicações na Gravidez , Adulto , Desenvolvimento Infantil/fisiologia , Estudos de Coortes , Dieta , Feminino , Seguimentos , Genótipo , Idade Gestacional , Humanos , Recém-Nascido , Inteligência/fisiologia , Prontuários Médicos , Mutação/genética , Fenilalanina/efeitos adversos , Fenilalanina/sangue , Fenilalanina/uso terapêutico , Fenilcetonúrias/genética , Fenilcetonúrias/prevenção & controle , Cuidado Pré-Concepcional , Gravidez , Complicações na Gravidez/prevenção & controle , Desempenho Psicomotor/fisiologia , Fatores de Risco , Ultrassonografia Pré-NatalRESUMO
The importance of complete or almost complete intake of the recommended amount of phenylalanine-free amino acid mixture (AAM) for control of blood phenylalanine level in patients being treated for phenylketonuria (PKU) has not been universally appreciated. We observed the effect of complete intake of AAM on plasma phenylalanine levels during hospitalization in 6 patients with PKU (5 pregnant women with PKU and 1 child) who had poor metabolic control because of less than full compliance with prescribed AAM intake. Before hospitalization, all but 1 of the patients had blood phenylalanine levels above 1,000 mumol/L; in 1 patient the blood phenylalanine level was 703 mumol/L. During 9 periods of observation in the 6 patients, the levels of plasma phenylalanine decreased to the recommended range of below 360 mumol/L within 2 to 6 days of hospitalization. These experiences indicate a close relationship between compliance with prescribed AAM intake and control of blood phenylalanine level. We propose that hospitalization be considered when patients with PKU who are consuming a phenylalanine-restricted diet fail to maintain blood phenylalanine levels in the targeted range despite reported compliance with the prescribed intake of dietary phenylalanine and AAM.
Assuntos
Aminoácidos/administração & dosagem , Dieta com Restrição de Proteínas , Fenilalanina/sangue , Fenilcetonúria Materna/dietoterapia , Adulto , Aminoácidos/metabolismo , Pré-Escolar , Ingestão de Alimentos , Feminino , Humanos , Cooperação do Paciente , Fenilalanina/efeitos adversos , Fenilalanina Hidroxilase/genética , Fenilcetonúria Materna/prevenção & controle , Gravidez , Resultado da GravidezRESUMO
Hydroxyproline is a major constituent of collagen. It accumulates as the free imino acid in a rarely reported inborn error of metabolism known as hydroxyprolinemia. This metabolic disorder was initially described in association with mental retardation, but subsequent identification in clinically normal individuals has led to the supposition that it is benign. The possibility that hydroxyprolinemia might have an adverse effect on cognitive development without producing mental retardation has not been determined nor has its incidence been reported. We prospectively studied a girl with untreated hydroxyprolinemia identified by routine neonatal urine screening, the only infant found among 1 million screened, and compared her with her unaffected dizygotic twin sister. Plasma and urine hydroxyproline were increased approximately 10-fold and 100-fold, respectively, in the affected twin. Both girls have had normal growth, with the affected twin taller than her sister. On neuropsychologic testing, the affected twin was within normal limits, performing slightly better than her sister on verbal and achievement tests but less well on visual perceptual testing. It appears that hydroxyprolinemia has caused no physical or general cognitive deficits. The possibility of an effect on visual perceptual functioning, although unlikely, cannot be eliminated.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/genética , Doenças em Gêmeos , Hidroxiprolina/sangue , Erros Inatos do Metabolismo dos Aminoácidos/fisiopatologia , Erros Inatos do Metabolismo dos Aminoácidos/psicologia , Criança , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Testes Neuropsicológicos , Estudos Prospectivos , Gêmeos Dizigóticos , Percepção VisualRESUMO
A major complication of galactosemia is cataracts. This is usually considered to be the sole ophthalmic feature of this disorder. However, we have encountered vitreous hemorrhage, a very rare ophthalmic finding, in five neonates with galactosemia and have found four probable additional cases in the literature. All of these infants had severe neonatal manifestations of galactosemia and were discovered to have vitreous hemorrhage by ophthalmologic examination initiated by the observation of clouding of the eye or on a routine basis. The infants lost most or all vision from the affected eye. Retinal abnormalities were present in the involved eyes of the five neonates of whom we have direct knowledge. Thus we believe that retinal hemorrhage is the most likely source of the vitreous hemorrhage and that the coagulopathy associated with neonatal disease in galactosemia leads to vitreous hemorrhage. Prompt recognition and therapy for the coagulopathy would likely prevent vitreous hemorrhage in galactosemia.
Assuntos
Galactosemias/complicações , Hemorragia Vítrea/etiologia , Feminino , Galactosemias/diagnóstico , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/cirurgia , Masculino , Prognóstico , Vitrectomia , Hemorragia Vítrea/diagnóstico , Hemorragia Vítrea/cirurgiaRESUMO
Phenylketonuria (PKU) produces white matter changes identifiable by magnetic resonance imaging. These changes occur postnatally. Offspring of untreated mothers with PKU also have a brain effect, expressed as microcephaly and mental retardation. This effect occurs prenatally. To determine whether the white matter changes seen in PKU are also present in maternal PKU offspring, despite the different developmental stages of exposure to PKU, we performed brain magnetic resonance imaging studies in seven maternal PKU offspring, five from essentially untreated pregnancies and two from treated pregnancies. None had white matter changes, although the one offspring with PKU had delayed myelination. However, hypoplasia of the corpus callosum was present in three of the four offspring from untreated pregnancies and in the offspring from a maternal PKU pregnancy not treated until the third trimester. Unlike PKU, white matter changes are not a feature of the brain effect in maternal PKU. However, hypoplasia of the corpus callosum is a feature of maternal PKU and is probably a result of inhibition of corpus callosum development at 8 to 20 weeks of gestation. The hypoplastic corpus callosum could be a marker for brain effect in maternal PKU and may have implications for the cognitive deficits in these offspring.
Assuntos
Encéfalo/patologia , Deficiência Intelectual/genética , Imageamento por Ressonância Magnética , Microcefalia/genética , Mães , Fenilcetonúrias/genética , Efeitos Tardios da Exposição Pré-Natal , Adolescente , Agenesia do Corpo Caloso , Criança , Corpo Caloso/patologia , Feminino , Seguimentos , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/prevenção & controle , Masculino , Microcefalia/diagnóstico , Microcefalia/prevenção & controle , Fenilalanina/administração & dosagem , Fenilcetonúrias/diagnóstico , Fenilcetonúrias/dietoterapia , GravidezRESUMO
The outcomes of mild hyperphenylalaninemia (MHP) in three children of two sisters were compared. The IQ of the child from an untreated pregnancy was 105; the developmental quotients of the two infant offspring from treated and untreated pregnancies were 122 and 114, respectively. The IQ of the sister with untreated MHP was 101; that of the sister who received dietary treatment for MHP during infancy was 90. Thus MHP and maternal MHP appear to have been clinically inconsequential in this family.
Assuntos
Inteligência , Fenilalanina/sangue , Complicações na Gravidez , Adulto , Desenvolvimento Infantil , Diabetes Gestacional/sangue , Diabetes Gestacional/tratamento farmacológico , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Inteligência/genética , Masculino , Fenilalanina/genética , Fenilcetonúrias/sangue , Fenilcetonúrias/dietoterapia , Fenilcetonúrias/genética , GravidezAssuntos
Galactosemias/sangue , Galactosemias/terapia , Uridina Difosfato Galactose/deficiência , Criança , Cromatografia Líquida de Alta Pressão , Eritrócitos/química , Galactosemias/complicações , Humanos , Espectroscopia de Ressonância Magnética , Uridina/uso terapêutico , Uridina Difosfato Galactose/sangue , Uridina Difosfato Galactose/isolamento & purificação , Uridina Difosfato Glucose/sangue , Uridina Difosfato Glucose/isolamento & purificação , Uridina Difosfato Glucose DesidrogenaseRESUMO
A 6-month-old girl was hospitalized on three occasions for irritability, vomiting, acidosis, and hypotonia. During the third hospitalization hyperglycinemia and urinary glycolic acid were detected. Ethylene glycol was discovered in the infant's blood and bottled formula. Clinicians must consider ethylene glycol intoxication as a cause of recurrent infantile metabolic acidosis.