RESUMO
Familial Alzheimer's disease (FAD) has been shown to be genetically heterogeneous, with a very small proportion of early onset pedigrees being associated with mutations in the amyloid precursor protein (APP) gene on chromosome 21, and some late onset pedigrees showing associations with markers on chromosome 19. We now provide evidence for a major early onset FAD locus on the long arm of chromosome 14 near the markers D14S43 and D14S53 (multipoint lod score z = 23.4) and suggest that the inheritance of FAD may be more complex than had initially been suspected.
Assuntos
Doença de Alzheimer/genética , Cromossomos Humanos Par 14 , Idoso , Alelos , Precursor de Proteína beta-Amiloide/genética , Sequência de Bases , Mapeamento Cromossômico , DNA/genética , Feminino , Marcadores Genéticos , Humanos , Escore Lod , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , LinhagemRESUMO
Enantiostyly is a floral polymorphism in which two floral forms in the same species differ in deflection of the stigma to right or left position. In monomorphic enantiostylous plants, flowers of the two morphs occur within the same individual, usually in the same proportion. In self-compatible species the function of monomorphic enantiostyly is proposed to increase outcrossing rates and offer a reproductive advantage under pollination limitation. Enantiostylous species are usually self-compatible and show heteranthery, with poricide anthers and pollen as pollinator reward; however, there are families, such as Vochysiaceae, that have different characteristics. We analysed the reproductive system and pollination biology of Qualea parviflora and Q. multiflora, two enantiostylous species from the Brazilian Cerrado that have specific morphological and physiological traits. For this, we characterized flower traits, performed hand pollinations and studied floral visitors. We found no differences between morphs in the proportion of flowers, nectar produced or its concentration, pollen quantity and fruit set. Both species were self-incompatible and quite generalist regarding floral visitors. Enantiostyly in self-incompatible plants seems to confer a reproductive advantage by reducing self-interference resulting from stigma clogging. This novel result helps to expand our knowledge on this complex floral polymorphism and opens new avenues for future research on this topic.
Assuntos
Myrtales , Polinização , Animais , Brasil , Flores/anatomia & histologia , Myrtales/fisiologia , Pólen , Polinização/fisiologia , Reprodução/fisiologiaRESUMO
Mutations in the Cu, Zn superoxide dismutase (SOD1) gene have been reported in some pedigrees with Familial Amyotrophic Lateral Sclerosis (FALS). We have investigated the functional and structural effects of a Gly-->Ser mutation at codon 41 of SOD1 in a pedigree with FALS and the topography of SOD1 expression in the mammalian CNS. These analyses show that the 41Gly-->Ser mutation causes a 27% reduction in Cu, Zn SOD activity. SOD1 is transcribed at high levels in rat motoneurons and four other types of neurons homologous to upper motoneurons that degenerate in human ALS. However, SOD1 is transcribed at lower levels in other types of neurons, such as cerebellar Purkinje cells, which are not usually involved significantly in human ALS. On the other hand, immunocytochemical studies indicate that most types of rat neurons contain similar levels of Cu, Zn SOD immunoreactive protein. Nevertheless, these results suggest that the essential feature causing this subtype of ALS is either a reduction in Cu, Zn SOD activity in cell types that presumably critically require Cu, Zn SOD for protection against oxidative damage or the fact that the mutation in SOD1 associated with FALS results in a novel gain of function that is particularly deleterious to those cell types expressing SOD1 at high levels.
Assuntos
Esclerose Lateral Amiotrófica/enzimologia , Mutação , Superóxido Dismutase/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Imuno-Histoquímica , Hibridização In Situ , Masculino , Biologia Molecular , Sondas Moleculares/genética , Dados de Sequência Molecular , Ratos , Ratos Sprague-DawleyRESUMO
Since 1980 the WHO has proposed at least tree indices to characterize health status (impairment, disease, disability). Their relationships have been examined in some chronic diseases, but little is known about elderly at risk of frailty. We studied the influence of gender, age and living conditions on these indices and on their relationships. A sample of 100 home-dwelling elderly subjects underwent a multidimensional assessment at home to collect biological, symptomatic and functional measures. The sample consists of 48 males and 47 females, their mean age was 80.2 years, the mean schooling was 4.7 years. Living at home alone 14%, with spouse 60%, other 26%. Applying a MANOVA that considered the above mentioned items as factors and the biological, symptomatic and functional measures as dependent variables, no significant difference was found in biological measures, whereas the interaction of (i) gender and living conditions, (ii) gender and age classes showed differences in affective symptoms. Moreover, gender alone resulted a significant source of differences in instrumental activities of daily living (IADL). To assay the impact of biological, symptomatic scores on disability, a backward linear regression was applied. The principal index of postural control, Tinetti scale score, alone explained 50% of variance in activities of daily living (ADL), this index together with the measures, respectively, of cognitive functioning (Camcog score) and behavioral profile neuro-psychological inventory (NPI) score resulted to be the main sources of the IADL variance. These preliminary data allow us to identify both medical and social factors able to enhance the risk of frailty; is worth wile to stress that prevention programs could be targeted on possible modification of these factors.
Assuntos
Avaliação da Deficiência , Nível de Saúde , Inquéritos e Questionários , Atividades Cotidianas , Idoso , Idoso de 80 Anos ou mais , Envelhecimento/fisiologia , Cuidadores/estatística & dados numéricos , Doença Crônica , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Feminino , Indicadores Básicos de Saúde , Humanos , Masculino , Transtornos Mentais/diagnóstico , Transtornos Mentais/epidemiologia , Transtornos Mentais/psicologia , Prevalência , Características de ResidênciaRESUMO
Pollinators provide an essential service to natural ecosystems and agriculture. In tomatoes flowers, anthers are poricidal, pollen may drop from their pore when flowers are shaken by the wind. However, bees that vibrate these anthers increase pollen load on the stigma and in fruit production. The present study aimed to identify the pollinator richness of tomato flowers and investigate their morphological and functional traits related to the plant-pollinator interaction in plantations of Central Brazil. The time of anthesis, flower duration, and the number and viability of pollen grains and ovules were recorded. Floral visitors were observed and collected. Flower buds opened around 6h30 and closed around 18h00. They reopened on the following day at the same time in the morning, lasting on average 48 hours. The highest pollen availability occurred during the first hours of anthesis. Afterwards, the number of pollen grains declined, especially between 10h00 to 12h00, which is consistent with the pollinator visitation pattern. Forty bee species were found in the tomato fields, 30 of which were considered pollinators. We found that during the flowering period, plants offered an enormous amount of pollen to their visitors. These may explain the high richness and amount of bees that visit the tomato flowers in the study areas. The period of pollen availability and depletion throughout the day overlapped with the bees foraging period, suggesting that bees are highly effective in removing pollen grains from anthers. Many of these grains probably land on the stigma of the same flower, leading to self-pollination and subsequent fruit development. Native bees (Exomalopsis spp.) are effective pollinators of tomato flowers and are likely to contribute to increasing crop productivity. On the other hand, here tomato flowers offer large amounts of pollen resource to a high richness and amount of bees, showing a strong plant-pollinator interaction in the study agroecosystem.
Assuntos
Abelhas/fisiologia , Biodiversidade , Polinização , Solanum lycopersicum/anatomia & histologia , Solanum lycopersicum/fisiologia , Animais , Abelhas/classificação , Brasil , Flores/anatomia & histologia , Flores/fisiologiaRESUMO
The search for and choice of oviposition sites are a key step in the life cycle of herbivorous insects. Theory predicts that natural selection should favor the discrimination ability of female insects to select between high- and low-quality oviposition sites. However, correlation between female preference and offspring performance is apparently lacking or even negative in some herbivore-plant systems. A possible explanation for this seeming failure is that most studies have focused on a single factor and spatial scale. Here, we investigated the preference-performance relationship in the seed beetle Gibbobruchus bergamini Manfio & Ribeiro-Costa (Coleoptera: Chrysomelidae). We took into account several potential factors affecting oviposition choices and larval survivorship through a multi-level approach. Hierarchical analysis that controlled for the non-independence of observations demonstrated that oviposition site choices were not related to the factors that most influenced larval survivorship. The apparent effects of other pod-feeding herbivores were greater at the plant and branch scales while at the pod level the most important factors were plant-related variables. Oviposition choices seemed to be time-constrained, meaning that females have little opportunity to further increase offspring performance through additional compensatory choices.
Assuntos
Comportamento Animal , Besouros/anatomia & histologia , Oviposição , Animais , Brasil , Feminino , HerbivoriaRESUMO
Total body irradiation (TBI) produces prolonged immunosuppression with rare side effects. We studied 12 thymectomized patients affected with chronic generalized severe myasthenia gravis. All patients had been totally or partially refractory to prolonged oral treatment with immunosuppressive drugs, and most had contra-indications for these drugs. Low-dose (1.8- to 2.3-Gy total dose) TBI was administered in single, 0.1-Gy doses, two to three times per week. TBI was well tolerated and was associated with objective clinical improvement in six patients, lasting more than 2 years in five. In addition, TBI produced a long-lasting lymphopenia with a pronounced decrease of T CD4+ lymphocytes; T CD8+ lymphocytes were almost unchanged over the 2 years of the study. CD16+ and CD20+ lymphocytes, after an initial decrease, increased above baseline. TBI was also associated with decreased anti-AChR antibody titer. The decrease of lymphocyte count and of anti-AChR antibody titer was more pronounced in the patients who improved, suggesting that lymphopenia and immunosuppression may have contributed to clinical improvement.
Assuntos
Miastenia Gravis/radioterapia , Irradiação Corporal Total , Adulto , Idoso , Autoanticorpos/sangue , Feminino , Imunofluorescência , Seguimentos , Humanos , Contagem de Leucócitos/efeitos da radiação , Subpopulações de Linfócitos/efeitos da radiação , Linfócitos/efeitos da radiação , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/imunologia , Receptores Colinérgicos/imunologia , Fatores de Tempo , Irradiação Corporal Total/efeitos adversosRESUMO
We conducted a double-blind trial of high-dose parenteral 6-methylprednisolone (MP) and placebo on 23 patients with acute MS. After the double-blind trial, the patients were given corticosteroids in gradually decreasing doses. The frequency of improvement was significantly higher and the bout duration significantly lower in the MP group than in the placebo group. The first signs of improvement (3 to 6 days after starting MP) were associated with a marked decrease in the rate of CNS IgG synthesis, but IgG CSF oligoclonal bands did not change. CNS IgG production slowly returned toward baseline despite progressive clinical improvement.
Assuntos
Metilprednisolona/uso terapêutico , Esclerose Múltipla/tratamento farmacológico , Adulto , Idoso , Albuminas/líquido cefalorraquidiano , Albuminas/imunologia , Ensaios Clínicos como Assunto , Método Duplo-Cego , Feminino , Humanos , Imunoglobulina G/biossíntese , Imunoglobulina G/líquido cefalorraquidiano , Imunoglobulina G/imunologia , Infusões Parenterais , Masculino , Metilprednisolona/administração & dosagem , Metilprednisolona/efeitos adversos , Pessoa de Meia-Idade , Prednisona/efeitos adversos , Prednisona/uso terapêutico , Distribuição Aleatória , Albumina Sérica/imunologia , Fatores de TempoRESUMO
We have discovered a new Italian pedigree with autosomal-dominant ALS. The pedigree, at present, comprises 75 members distributed in five generations. ALS was diagnosed in eight patients. The mean +/- SD age of onset of the disease was 46.8 +/- 13.5 years, with a range of 29 to 63 years. The mean +/- SD duration of the disease was 11.6 +/- 1.7 months. Molecular genetic studies showed a missense mutation (Gly-->Ser, codon 41) in exon 2 of the Cu/Zn superoxide dismutase gene (SOD1) on chromosome 21 in the available affected member and in 45% of the at-risk subjects of the pedigree. This study confirms the presence of SOD1 point mutations in families with autosomal-dominant ALS and suggests that additional genetic or environmental factors may be involved in the full expression of the disease.
Assuntos
Esclerose Lateral Amiotrófica/enzimologia , Esclerose Lateral Amiotrófica/genética , Cromossomos Humanos Par 21 , Mutação Puntual , Superóxido Dismutase/genética , Adulto , Sequência de Bases , DNA/sangue , Primers do DNA , Família , Feminino , Glicina , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , Reação em Cadeia da Polimerase , SerinaRESUMO
We evaluated the long-lasting effects of systemic high-dose recombinant interferon alpha-2a (rIFNA) in relapsing-remitting (RR) MS after discontinuing treatment in a single-blind randomized placebo-controlled trial with 20 RR clinically definite MS patients using either nine million IU intramuscular rIFNA (n = 12) or placebo (n = 8) every other day for 6 months. Follow-up continued for a further 6 months without IFN treatment. In rIFNA-treated patients, main outcome measures, significantly different from placebo during treatment, returned, after discontinuing treatment, to values similar to placebo or baseline. Active MRI lesions per patient increased from 0.08 +/- 0.08 to 1.2 +/- 0.4 (p < 0.02), number of patients with clinical MRI signs of disease activity from 2 of 12 to 8 to 12 (P < 0.04), lymphocyte IFN gamma production from 3.0 +/- 0.7 to 12.4 +/- 2.2 IU/mL (p < 0.01), lymphocyte tumor necrosis factor alpha production from 5.8 +/- 0.9 to 18.9 +/- 6.3 pg/mL (p < 0.05). All side effects of rIFNA treatment disappeared after discontinuing the drug. The reduction of clinical MRI signs of disease activity and the immunologic effects were temporary and restricted to the period of rIFNA administration. The depression of many immunologic and clinical MRI responses during drug administration and their simultaneous return to baseline after discontinuing the drug strongly argue all observed changes were related to drug administration.
Assuntos
Interferon-alfa/uso terapêutico , Esclerose Múltipla/tratamento farmacológico , Adulto , Feminino , Humanos , Interferon alfa-2 , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/patologia , Esclerose Múltipla/fisiopatologia , Estudos Prospectivos , Proteínas Recombinantes , Recidiva , Método Simples-CegoRESUMO
The c-FOS gene product, a putative transacting transcriptional regulator of the amyloid precursor protein (APP) gene, is a candidate locus for the familial Alzheimer's disease (FAD) mutation on chromosome 14 (FAD14). In light of this functional relationship, we investigated the nucleotide sequence and segregation of c-FOS and the nucleotide sequence of the 5' APP promoter. Single-stranded conformational polymorphisms (SSCPs) in the c-FOS gene revealed that c-FOS closely cosegregates with the FAD14 gene but does not show allelic association with FAD. A conservative third-position T-->C mutation was demonstrated in exon 2 (codon 84) of c-FOS, and a C-->G substitution was detected at -209 bp in the 5' promoter of APP. Neither were unique to FAD and are unlikely to be pathogenic or secondary modifiers of the FAD phenotype. We conclude that the c-FOS open reading frame is probably not the site of the FAD14 locus, but we cannot exclude the existence of modifier loci on chromosome 21.
Assuntos
Doença de Alzheimer/genética , Precursor de Proteína beta-Amiloide/genética , Cromossomos Humanos Par 14 , Genes fos/genética , Regiões Promotoras Genéticas/genética , Adulto , Ligação Genética , Humanos , Pessoa de Meia-Idade , Linhagem , Polimorfismo Genético , Mapeamento por RestriçãoRESUMO
A 32-year-old female presented with progressive external ophthalmoplegia (PEO) and multisystem abnormalities, strikingly associated with myotonia and muscle hypertrophy. These two features were not found in her brother, who had a complex neuromuscular disorder complicating chronic PEO. In both subjects muscle biopsy revealed "ragged-red" fibres and myofibres containing glycogen granules, which were never bound by membranes. A severe demyelinating neuropathy was revealed by electrophysiological and morphological studies. Cranial CT scan showed extensive demyelination of the cerebral white matter. Genetic studies demonstrated that this familial syndrome is transmitted as an autosomal recessive trait.
Assuntos
Oftalmoplegia/genética , Adulto , Biópsia , Encéfalo/diagnóstico por imagem , Eletrofisiologia , Feminino , Humanos , Masculino , Músculos/enzimologia , Músculos/patologia , Oftalmoplegia/classificação , Oftalmoplegia/patologia , Oftalmoplegia/fisiopatologia , Linhagem , Nervo Fibular/patologia , Tomografia Computadorizada por Raios XRESUMO
Cerebrospinal fluid (CSF) levels of the anxiogenic neuropeptide diazepam binding inhibitor (DBI) were determined by radioimmunoassay in 281 patients who underwent evaluation for neurological problems. Serial dilution curves and reverse-phase high pressure liquid chromatography showed that the immunoreactive material in CSF behaved just as authentic DBI extracted from human brain. Furthermore in the assay there was no evidence of interference from CSF samples deprived of DBI by immunoaffinity. In 82 patients with no evidence of major lesions in the central nervous system, who acted as controls, the CSF DBI content was shown to be age- and sex-related. No correlation was observed with the CSF protein concentration. In patients with different types of dementia, the levels of CSF DBI were significantly increased in a group with normal pressure hydrocephalus. No significant differences were found between Alzheimer's disease, multi-infarct dementia, or dementia with Parkinson's disease and controls. In non-demented patients with Parkinson's disease the levels of DBI were increased in a subgroup with depressive disturbances whereas no differences was observed in the non-depressed cases. The content of DBI was markedly reduced in 5 cases with olivopontocerebellar atrophy and in 4 with spinocerebellar ataxia. In all the other disorders studied the levels of DBI were similar to or slightly lower (multiple sclerosis) than those of the controls. The origin of DBI in cerebrospinal fluid is uncertain; a number of various possibilities are discussed concerning the proposed role of DBI as modulator of brain GABAergic transmission.
Assuntos
Doenças do Sistema Nervoso/líquido cefalorraquidiano , Neuropeptídeos/líquido cefalorraquidiano , Adolescente , Adulto , Fatores Etários , Idoso , Doenças Cerebelares/líquido cefalorraquidiano , Inibidor da Ligação a Diazepam , Feminino , Congelamento , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/líquido cefalorraquidiano , Doenças do Sistema Nervoso/fisiopatologia , Neuropeptídeos/isolamento & purificação , Fatores Sexuais , Preservação de TecidoRESUMO
We have recently discovered in Torino (Italy) a new pedigree with early-onset Alzheimer's disease. The index patient is a woman who, at the age of 43 years, showed progressive memory impairment and ideomotor apraxia. Several relatives of the patient have had a history of dementia. The ancestors of the patient were from Calabria (southern Italy) and members of the family emigrated to the north of Italy, to France, and to the United States. Up to now, the new kindred comprises 1950 members, distributed in eight generations. Thirty members affected with Alzheimer's disease have been identified. Neuropathologic confirmation of antemortem clinically diagnosed Alzheimer's disease has been achieved for one patient. The pedigree is consistent with autosomal dominant inheritance. The clinical course of the disease is fairly uniform: the first symptom is memory loss, beginning around age 40 years. Psychiatric symptoms like hallucinations and delusions follow. At a later stage of the disease, several patients developed myoclonus and generalized epileptic seizures and eventually died with profound dementia. The "Torino family" shows several genealogic and clinical similarities with other large multigenerational familial Alzheimer's disease pedigrees originating from the Calabria region.
Assuntos
Doença de Alzheimer/genética , Adulto , Fatores Etários , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/psicologia , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Modelos Genéticos , Testes Neuropsicológicos , LinhagemRESUMO
The overgrowth-affected gingiva of patients treated with cyclosporin A after kidney transplant was examined with ultrastructural and histochemical methods to evaluate the involvement of connective tissue. Gingival overgrowth has the same clinical signs as local edema. The ultrastructural study showed that the dimensional increase was largely due to increased production of amorphous ground substance by fibroblasts, possibly resulting from an increased release of histamine by mast cells. The histochemical data revealed that the affected tissues contained higher levels of glycosaminoglycans and that cyclosporin A induced comparably high levels of glycosaminoglycans in in vitro cultures of fibroblasts obtained from normal gingiva. The combination of ultrastructural and histochemical data, therefore, strongly suggests that the response of the connective tissue in gingival overgrowth cannot be ignored and may be the main cause of the observed pathological condition.
Assuntos
Ciclosporina/efeitos adversos , Gengiva/ultraestrutura , Hiperplasia Gengival/patologia , Imunossupressores/efeitos adversos , Tetrapirróis , Azul Alciano , Capilares/efeitos dos fármacos , Capilares/ultraestrutura , Sulfatos de Condroitina/análise , Corantes , Tecido Conjuntivo/efeitos dos fármacos , Tecido Conjuntivo/ultraestrutura , Dermatan Sulfato/análise , Edema/induzido quimicamente , Edema/patologia , Epitélio/efeitos dos fármacos , Epitélio/ultraestrutura , Fibroblastos/efeitos dos fármacos , Fibroblastos/ultraestrutura , Gengiva/irrigação sanguínea , Gengiva/efeitos dos fármacos , Hiperplasia Gengival/induzido quimicamente , Glicosaminoglicanos/análise , Heparina/análise , Heparitina Sulfato/análise , Liberação de Histamina , Humanos , Sulfato de Queratano/análise , Transplante de Rim , Mastócitos/efeitos dos fármacos , Mastócitos/ultraestruturaRESUMO
The purpose of this paper is to propose a preliminary scheme which standardizes the terminology and the manner of classifying comatose states due to organic cerebral lesions. This attempt is based on recognition of the need to use a common language in order to facilitate the transmission of information in this field.
Assuntos
Encefalopatias/diagnóstico , Coma/classificação , Terminologia como Assunto , Doença Aguda , Morte Encefálica , Estado de Descerebração , Humanos , Exame NeurológicoRESUMO
Reference is made to the picture observed in two patients with flaccid tetraparesis, severe hypopotassaemia, and myoglobinuric muscle necrosis (hypokalaemic myopathy). Recent onset of hypertension was a feature of both cases. Initially, however, no reason could be assigned for this, nor for the massive loss of potassium. Numerous investigations in the first case (and relatively quick verification in the second) incriminated a steroid, 9-alpha-fluoroprednisolone acetate, in a nasal spray. This has often been reported as the cause of an iatrogenic syndrome due to excess of mineral corticoids, with hypertension, hypokalaemia and alkalosis, suppression of plasma renin activity, and reduction of blood and urinary aldosterone, all of which were observed in these two patients. Withdrawal of the drug and treatment with potassium chloride led to relatively rapid normalisation of the serum electrolytes. Recovery of muscle strength took place after about 20 days, almost at the same time as the normalisation of muscle enzymes. Hypertension, on the other hand, regressed slowly. The nexus between chronic use of the spray and the occurrence of hypokalaemic muscle necrosis is examined in detail. Stress is laid on the importance of specific investigation of the prior use of intranasal steroids in the differentiation of muscle disturbances due to potassium depletion.
Assuntos
Fluprednisolona/efeitos adversos , Hipopotassemia/induzido quimicamente , Hipotonia Muscular/induzido quimicamente , Administração Intranasal , Adolescente , Fluprednisolona/administração & dosagem , Humanos , Hipertensão/induzido quimicamente , Masculino , Pessoa de Meia-IdadeRESUMO
The Authors report the appearance of Central Nervous System lesions in three patients previously treated for ovarian carcinoma. In one case (Stage 1) the histological sample found a glioblastoma, in the others (Stage 3) the lesion was the metastases after systemic diffusion of the primary carcinoma. CNS metastases are rare and more frequently occur in advanced ovarian carcinoma. In patients at Stage 1, CNS isolated lesions may be primary tumors.
Assuntos
Neoplasias Encefálicas/secundário , Glioma/secundário , Neoplasias Ovarianas/patologia , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/cirurgia , Feminino , Glioma/tratamento farmacológico , Glioma/patologia , Glioma/cirurgia , Humanos , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Neoplasias Ovarianas/cirurgiaRESUMO
The case of an ovarian mature cystic teratoma with an associated squamous cell carcinoma is described. The patient, in advanced stage, died a few months after surgery, during the treatment by chemo and radiotherapy.
Assuntos
Carcinoma de Células Escamosas/patologia , Cisto Dermoide/patologia , Neoplasias Ovarianas/patologia , Teratoma/patologia , Neoplasias Uterinas/patologia , Carcinoma de Células Escamosas/complicações , Carcinoma de Células Escamosas/cirurgia , Cisto Dermoide/complicações , Cisto Dermoide/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas , Omento/patologia , Omento/cirurgia , Neoplasias Ovarianas/cirurgia , Neoplasias Peritoneais/patologia , Neoplasias Peritoneais/secundário , Neoplasias Peritoneais/cirurgia , Teratoma/complicações , Teratoma/cirurgia , Neoplasias Uterinas/cirurgiaRESUMO
Haemoglobin E is a beta chain variant quite common in Southeastern Asia. The case of a gravid Thai woman with a microcytic anaemia is reported. The diagnosis of homozygous haemoglobin E was suspected on the basis of ethnic considerations when analysis of her haemoglobin showed the absence of normal HbA1 and about 100% of a variant Hb with electrophoretic mobility with HbC and HbA2. Identification of the haemoglobin variant was performed by using an association of alkaline electrophoresis on agarose gel, acid electrophoresis on agarose gel, haemoglobin isoelectrofocusing, high performance liquid chromatography. A study of haemoglobin pattern in the partner, parents and siblings was also performed. Pregnancy continued without any problems until the 40th week when a caesarean section was performed due to a difficult labour with foetal distress. The haemoglobin pattern of the new-born was studied at birth and after 1 year; as expected, it was quite normal at birth and a heterozygous condition for HbE was observed after 1 year. HbE, in even heterozygous and homozygous states, gives a mild clinical picture but its association with other haemoglobinopathies, such as a double heterozygous state (i.e. HbE/beta Thalassaemia) gives rise to a severe transfusion dependent thalassaemia syndrome. It is the authors' opinion that only a strict interaction between obstetricians and pathologists is the possible correct answer to the new diagnostic question proposed by a rapidly evolving inter-ethnic society.