RESUMO
Barth syndrome (BTHS) is an X-linked recessive disease caused by mutations in tafazzin gene (TAZ) which lead to cardiolipin deficiency and mitochondrial dysfunction. Male patients have variable clinical findings, including cardiomyopathy, skeletal myopathy, prepubertal short stature, neutropenia and 3-methylglutaconic aciduria. Female carriers are usually asymptomatic. We report a novel TAZ gene mutation in male and female siblings with left ventricular noncompaction and hypotonia. Additionally, the brother presented an intermittent neutropenia and increased urinary levels of 3-methylglutaconic and 3-methylglutaric acid. The molecular genetic testing showed that both siblings carry the mutation: c.253insC, p.(Arg85Profs*54) in exon 3 of the TAZ gene. This article presents the first case of BTHS in a heterozygous female patient with normal karyotype.
Assuntos
Síndrome de Barth/genética , Análise Mutacional de DNA , Fatores de Transcrição/genética , Aciltransferases , Adolescente , Síndrome de Barth/diagnóstico , Bulgária , Cardiolipinas/metabolismo , Criança , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Feminino , Triagem de Portadores Genéticos , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Humanos , Cariotipagem , Masculino , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/genética , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/genética , Inativação do Cromossomo X/genéticaRESUMO
Recently, in connection with the increased life expectancy; considerable interest in the problems of menopause has risen. The climax is a natural biological period of a woman's life during which a decrease in the production of sex hormones occurs. In response to the sharp decline in estrogen and altered hormonal environment characterizing menopause, a number of unfavourable changes in metabolism develop, increasing the risk of cardiovascular disease (CVD) and deterioration in the quality of life of menopausal women.
Assuntos
Doenças Cardiovasculares/etiologia , Menopausa , Doenças Cardiovasculares/metabolismo , Estrogênios/metabolismo , Feminino , Humanos , Resistência à Insulina , Síndrome Metabólica/etiologia , Síndrome Metabólica/metabolismo , Qualidade de Vida , Fatores de RiscoRESUMO
As a result of reforms in the education of nurses and midwives in our country, their training is conducted in university structures bachelor's degree program. The purpose of this study is to determine the students' specialty "midwife" for emergencies in obstetrics and needs additional training in this field of obstetric care. Survey was carried out with 55 students in "midwife" who are trained in the Faculty of Public Health of the Medical University - Sofia. The study was conducted during the second semester of the academic year 2014/2015. The results show that students definitely have a need for training on the topic of emergencies in obstetrics, this training should be aimed at developing clinical thinking and skills to assess the condition of the patient.
Assuntos
Tocologia/educação , Obstetrícia/educação , Bulgária , Serviços Médicos de Emergência , Medicina de Emergência/educação , Feminino , Humanos , GravidezRESUMO
A hominid upper premolar was discovered in the Azmaka quarry, near Chirpan (Bulgaria). The associated fauna, especially the co-occurrence of Choerolophodon and Anancus among the proboscideans, and Cremohipparion matthewi and Hippotherium brachypus among the hipparions, constrains the age of the locality to the second half of the middle Turolian (ca. 7 Ma), making it the latest pre-human hominid of continental Europe and Asia Minor. The available morphological and metric data are more similar to those of Ouranopithecus from the Vallesian of Greece than to those of the early to middle Turolian hominids of Turkey and Georgia, but the time gap speaks against a direct phyletic link, and Turolian migration from the east cannot be rejected.
Assuntos
Dente Pré-Molar/anatomia & histologia , Hominidae/anatomia & histologia , Animais , Evolução Biológica , Europa (Continente) , Fósseis , Hominidae/genéticaRESUMO
Dum and Strick (J. Neurophysiol. 2003; 89, 634-639) proposed a division of the cerebellar dentate nucleus into a "motor" and "non-motor" area based on anatomical data in the monkey. We asked the question whether motor and non-motor domains of the dentate can be found in humans using functional magnetic resonance imaging (fMRI). Therefore dentate activation was compared in motor and cognitive tasks. Young, healthy participants were tested in a 1.5 T MRI scanner. Data from 13 participants were included in the final analysis. A block design was used for the experimental conditions. Finger tapping of different complexities served as motor tasks, while cognitive testing included a verbal working memory and a visuospatial task. To further confirm motor-related dentate activation, a simple finger movement task was tested in a supplementary experiment using ultra-highfield (7 T) fMRI in 23 participants. For image processing, a recently developed region of interest (ROI) driven normalization method of the deep cerebellar nuclei was used. Dorso-rostral dentate nucleus activation was associated with motor function, whereas cognitive tasks led to prominent activation of the caudal nucleus. The visuospatial task evoked activity bilaterally in the caudal dentate nucleus, whereas verbal working memory led to activation predominantly in the right caudal dentate. These findings are consistent with Dum and Strick's anatomical findings in the monkey.
Assuntos
Mapeamento Encefálico , Núcleos Cerebelares/anatomia & histologia , Núcleos Cerebelares/fisiologia , Cognição/fisiologia , Movimento/fisiologia , Adulto , Feminino , Humanos , Interpretação de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , MasculinoAssuntos
Enfermeiros Obstétricos , Desempenho Profissional , Adulto , Feminino , Humanos , Satisfação no Emprego , Pessoa de Meia-Idade , Tocologia/organização & administração , Motivação , Enfermeiros Obstétricos/organização & administração , Enfermeiros Obstétricos/psicologia , Gravidez , Salários e Benefícios , Carga de Trabalho , Adulto JovemAssuntos
Satisfação do Paciente , Cuidado Pós-Natal , Feminino , Humanos , Recém-Nascido , Tocologia/ética , Tocologia/métodos , Tocologia/organização & administração , Enfermeiros Obstétricos/ética , Enfermeiros Obstétricos/organização & administração , Cuidado Pós-Natal/ética , Cuidado Pós-Natal/métodos , Cuidado Pós-Natal/organização & administração , Período Pós-Parto/ética , Qualidade da Assistência à Saúde/organização & administração , Inquéritos e QuestionáriosRESUMO
The results are presented of an electron magnetic resonance analysis at 110 K of radiation-induced defects in sucrose single crystals X-irradiated at room temperature, yielding a total of nine (1)H hyperfine coupling tensors assigned to three different radical species. Comparisons are made with results previously reported in the literature. By means of electron paramagnetic resonance and electron nuclear double resonance temperature variation scans, most of the discrepancies between the present 110 K study and a previous 295 K study by Sagstuen and co-workers are shown to originate from the temperature dependence of proton relaxation times and hyperfine coupling constants. Finally, radical models previously suggested in the literature are convincingly refuted by means of quantum chemical density functional theory calculations.
Assuntos
Modelos Químicos , Radiação , Sacarose/química , Sacarose/efeitos da radiação , Cristalografia por Raios X , Espectroscopia de Ressonância de Spin Eletrônica , Radicais Livres/química , Prótons , TemperaturaRESUMO
The aim of the present study was to examine verb generation in a larger group of children and adolescents with acute focal lesions of the cerebellum. Nine children and adolescents with cerebellar tumours participated. Subjects were tested a few days after tumour surgery. For comparison, a subgroup was tested also 1 or 2 days before surgery. None of the children had received radiation or chemotherapy at or before the time of testing. Eleven age- and education-matched control subjects participated. Subjects had to generate verbs to blocked presentations of photographs of objects. As control condition, the objects had to be named. Furthermore, dysarthria was quantified by means of a sentence production and syllable repetition task. Detailed analysis of individual 3D-MR images revealed that lesions affected cerebellar hemispheres in all children and adolescents. The right cerebellar hemisphere was affected in four and the left hemisphere in five subjects. In the present study, naming and verb generation accuracy were preserved in the majority of subjects with cerebellar lesions. No significant signs of learning deficits were observed, as reduction of reaction times over blocks was not different compared to controls. There was a trend of children and adolescents with right-hemispheric lesions to perform worse compared to controls. In this group, however, significant signs of dysarthria were present. In sum, no significant signs of disordered verb generation were observed in children and adolescents with acute cerebellar lesions. Findings suggest that the role of the cerebellum in verb generation may be less pronounced than previously suggested. Findings need to be confirmed in a larger group of subjects with acute focal lesions.
Assuntos
Doenças Cerebelares/complicações , Cerebelo/fisiologia , Disartria/complicações , Transtornos da Linguagem/etiologia , Comportamento Verbal/fisiologia , Vocabulário , Doença Aguda , Adolescente , Adulto , Doenças Cerebelares/cirurgia , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/cirurgia , Criança , Disartria/diagnóstico , Feminino , Lateralidade Funcional/fisiologia , Humanos , Testes de Linguagem , Masculino , Análise por Pareamento , Tempo de Reação/fisiologia , Valores de Referência , Aprendizagem Verbal/fisiologiaRESUMO
The data of 30 nonpregnant women in reproductive age BV treated with Gynalgin were presented. On clinical and microbiological indicator Gynalgin showed a good effect on BV-associated microorganisms (80%). Only one of the cases of BV was not affected (4%). With nixed infection of BV and Candida we established clinical improvement and recovery of Lactobacillus spp. In 66.6%, but in all cases on Candida is not effect. We consider that Gynalgin is still one more easily applicable and clinically effective opportunity for treatment of BV.
Assuntos
Anti-Infecciosos/uso terapêutico , Candidíase Vulvovaginal/tratamento farmacológico , Clorquinaldol/uso terapêutico , Metronidazol/uso terapêutico , Vaginose Bacteriana/tratamento farmacológico , Administração Intravaginal , Anti-Infecciosos/administração & dosagem , Candidíase Vulvovaginal/microbiologia , Clorquinaldol/administração & dosagem , Esquema de Medicação , Combinação de Medicamentos , Feminino , Humanos , Metronidazol/administração & dosagem , Comprimidos , Resultado do Tratamento , Vaginose Bacteriana/microbiologiaRESUMO
The aim of the present study was to compare possible activation of the interposed and dentate cerebellar nuclei during finger, foot and tongue movements using functional magnetic resonance imaging (fMRI). Nineteen healthy control subjects performed sequential finger and repetitive tongue and foot movement tasks. Thin slices (2.5mm) were acquired of the cerebellar region containing the cerebellar nuclei with high spatial resolution (matrix size 128 x 128 x 10) using a Siemens 1.5T Sonata system. Use of an eight channel head coil provided better signal-to-noise-ratio compared to standard head coils. Only data of those 12 subjects were included in final statistical analysis, who showed significant activation of the cerebellar nuclei at least in one task. Cortical activations of the superior cerebellum were found in accordance to the known somatotopy of the human cerebellar cortex. Nuclear activations were most significant in the sequential finger movement task. Both interposed nuclei and ipsilateral dentate nucleus were activated. Dentate activation was present in the more caudal parts of both the dorsal and ventral nucleus. Activation overlapped with motor and non-motor domains of the dentate nucleus described by Dum and Strick [R.P. Dum, P.L. Strick, An unfolded map of the cerebellar dentate nucleus and its projections to the cerebral cortex, J. Neurophysiol. 89 (2003) 634-639] based on anatomical data in monkey. Tongue movement related activations were less extensive and overlapped with activations of caudal parts of the dentate nucleus in the finger movement task. No nuclear activation was seen following foot movements. The present findings show that both interposed and dentate nuclei are involved in sequential finger movements in humans. Interposed nucleus likely contributes to movement performance. Although no direct conclusions could be drawn based on the present data, different parts of the dentate nucleus may contribute to movement performance, planning and possible non-motor parts of the task.
Assuntos
Núcleos Cerebelares/fisiologia , Dedos/fisiologia , Movimento/fisiologia , Vias Neurais/fisiologia , Língua/fisiologia , Adulto , Mapeamento Encefálico , Córtex Cerebelar/anatomia & histologia , Córtex Cerebelar/fisiologia , Núcleos Cerebelares/anatomia & histologia , Feminino , Dedos/inervação , Pé/inervação , Pé/fisiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Córtex Motor/anatomia & histologia , Córtex Motor/fisiologia , Vias Neurais/anatomia & histologia , Língua/inervaçãoRESUMO
A role of the right cerebellar hemisphere has been suggested in linguistic functions. Nevertheless, studies of verb generation in cerebellar patients provide inconsistent results. The aim of the present study was to examine verb generation in a larger group of cerebellar patients with well-defined lesions. Ten subjects with degenerative cerebellar disorders and ten healthy matched controls participated. Subjects had to generate verbs to the blocked presentation of photographs of objects (i.e. four blocks of sixteen objects). As control condition, the objects had to be named. Furthermore, dysarthria was quantified by means of a sentence production and syllable repetition task. Volumetric analysis of individual 3D-MR scans was performed to quantify cerebellar atrophy. Cerebellar patients were slower in the sentence production and syllable repetition tasks, and cerebellar volume was decreased compared to controls. Despite cerebellar atrophy and dysarthria, the answers produced did not differ between patients and controls. In addition, both groups revealed the same amount of decrease in verbal reaction time over blocks (i.e. learning). The results suggest that the role of the cerebellum in verb generation is less pronounced than previously suggested.
Assuntos
Ataxia Cerebelar/fisiopatologia , Cerebelo/patologia , Disartria/fisiopatologia , Comportamento Verbal/fisiologia , Vocabulário , Adulto , Idoso , Atrofia , Ataxia Cerebelar/complicações , Disartria/etiologia , Feminino , Humanos , Testes de Linguagem , Masculino , Pessoa de Meia-Idade , Tempo de Reação , Valores de Referência , Análise de Regressão , Índice de Gravidade de DoençaRESUMO
The principle of exchange of ion-association triple complexes has been used for photometric determination of gold. The effects of Pt, Pd, Tl and other elements have been examined, and conditions established for determination of gold(III) in their presence.
RESUMO
The interactions of three serum albumin species (rat, human, and bovine) with liposomes containing dimyristoylphosphatidylcholine, distearoylphosphatidylcholine or mixtures of both under different membrane fluidity conditions have been investigated using isothermal titration calorimetry and steady-state fluorescence anisotropy. Calorimetric titration studies of the binding of liposomes to the albumin species indicate in all cases exothermic processes with multiple sites of binding in the albumin molecules. Distinct saturation of the protein-lipid binding processes was observed at low or high molar lipid/protein ratio depending on the particular system. The thermodynamic parameters, including the association enthalpy and entropy, and the optimal values for the binding constants were thoroughly varied as a function of the number of identical binding sites, defining the best value of the parameter. Our experimental results, obtained using complementary biophysical techniques, provide experimental evidence for a significant difference in the association of the three protein species to phospholipid membranes. These observations also suggest a close relation between the binding parameters of the protein/lipid association and the lipid state of the phospholipid membranes.
Assuntos
Lipossomos/metabolismo , Fosfolipídeos/metabolismo , Albumina Sérica/metabolismo , Animais , Sítios de Ligação , Calorimetria , Bovinos , Cricetinae , Dimiristoilfosfatidilcolina/metabolismo , Humanos , Membranas , Fosfatidilcolinas/metabolismo , Ligação Proteica , Conformação Proteica , Ratos , Espectrometria de Fluorescência , TermodinâmicaRESUMO
Photolysis of the ternary system consisting of diethyldithiocarbamate (Et2dtc), diethyldiselenocarbamate (Et2dsc) and copper(II) (1:1:1) has been studied in isobutylmethylketone (IBMK), toluene, chloromethane and chloromethane/ROH solutions (chloromethane = CCl4, CHCl3 or CH2Cl2 and ROH = EtOH or i-PrOH). The results obtained by EPR techniques and UV-Vis data indicate that a homolytic Cu-S bond cleavage involving the dithiocarbamate (dtc) ligand appears as the primary photo-process in Cu(Et2dtc)(Et2dsc) photolysis. Further conversion of the primary photoproduct Cu(I)(Et2dsc) is discussed in terms of a specific interaction with the solvent. In chloromethanes and chloromethane/ROH Cu(I)(Et2dsc) is oxidised by the solvent to give the corresponding paramagnetic mixed-ligand Cu(II)(Et2dsc)Cl complex and/or its chloride-bridged and EPR silent dimer Cu2(Et2dsc)2Cl2. The formation of the monomeric species occurs through a co-ordination of the alcohol molecule in the xy plane of the complex. Because of its co-ordination inertness, toluene poorly stabilises the primary photoproduct Cu(I)(Et2dsc), thus providing an effective primary recombination process and lower efficiency of Cu(Et2dtc)(Et2dsc) photolysis. The formation of the bis-solvated mixed-ligand complex Cu(II)(Et2dsc)+ in IBMK is also discussed.
Assuntos
Cobre/química , Carbamatos/química , Físico-Química/métodos , Cloro/química , Radicais Livres , Cetonas/química , Ligantes , Luz , Metano/química , Cloreto de Metila/química , Modelos Químicos , Compostos Organometálicos/química , Oxigênio/metabolismo , Espectrofotometria , Tiocarbamatos/química , Tolueno/químicaRESUMO
The interaction of bis(diethyldithiocarbamato)copper(II), Cu(Et2dtc)2, and bis(diethyldiselenocarbamato)copper(II), Cu(Et2dsc)2, complexes with solvents is studied by EPR and electronic spectroscopy. The solvents used are CCl4, CHCl3, CH2Cl2, C6H5 x CH3, DMFA and DMSO. It is found that Cu(Et2dsc)2 is destroyed in a first order reaction in CCl4 with an activation energy of 5.2 kcal/mol. The other complex, Cu(Et2dtc)2, is only destroyed in DMSO. The observed effects and reaction pathways are discussed in terms of solute-solvent donor-acceptor interactions taking into account the differences in the electronic structures of both complexes.
Assuntos
Carbamatos/química , Espectroscopia de Ressonância de Spin Eletrônica/métodos , Compostos Organometálicos/química , Carbamatos/análise , Fenômenos Químicos , Físico-Química , Elétrons , Cinética , Ligantes , Compostos Organometálicos/análise , Solventes/química , Temperatura , Fatores de TempoRESUMO
Losartan is the first drug of a new class antihypertensive drags--Angiotensin II receptors antagonists. According to the data in the literature the drug shows a very good efficiency and tolerability. Fifteen patients at the average age of 48.9 are the object of this study. Our study establishes considerable lowering of the systolic BP with 15.9% and of the diastolic BP with 20.3%. No considerable effects on the hematopoiesis, the carbohydrate and the lipid metabolism, and the renal function were observed during treatment with Cozaar.
Assuntos
Anti-Hipertensivos/uso terapêutico , Hipertensão/tratamento farmacológico , Losartan/uso terapêutico , Adulto , Antagonistas de Receptores de Angiotensina , Anti-Hipertensivos/efeitos adversos , Pressão Sanguínea/efeitos dos fármacos , Feminino , Humanos , Hipertensão/fisiopatologia , Losartan/efeitos adversos , Masculino , Pessoa de Meia-IdadeRESUMO
After acute hypoxia (3 hrs, P-200 mm Hg) content of total phospholipids and of their fractions was not altered in rat lung parenchyma, but the phospholipid composition, changed due to preadministration of hydrocortisone or insulin, was normalized. After the hypoxia concentration of phospholipids in surfactant was decreased mainly due to a loss of phosphatidyl choline; the phenomenon was noted and after preadministration of the hormones.
Assuntos
Hidrocortisona/farmacologia , Hipóxia/metabolismo , Insulina/farmacologia , Pulmão/metabolismo , Fosfolipídeos/metabolismo , Surfactantes Pulmonares/metabolismo , Animais , Fosfatidilcolinas/metabolismo , Fosfatidiletanolaminas/metabolismo , Fosfatidilgliceróis/metabolismo , Ratos , Esfingomielinas/metabolismoRESUMO
Metabolic activity of rat lungs were studied in normal state and in acute hypoxia, caused by an effect of rarefied atmosphere (3 hrs, "height" 10,000 m). Glycolytic splitting of carbohydrates and catabolism of proteins were increased in lungs under hypoxic stress. In hypoxia activities of adlobase, pyruvate kinase, succinate dehydrogenase, 5-hydroxytryptophan decarboxylase were increased, but hexokinase activity was decreased. Activities of lipase, lactate dehydrogenase and NAD-dependent malate dehydrogenase were not altered, whereas the ratio in specific activity of cytoplasmic malate dehydrogenase and lactate dehydrogenase was decreased.