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1.
Cancer Causes Control ; 34(1): 23-37, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36208351

RESUMO

PURPOSE: Determine sociocultural influences on dietary behavior, body image, weight loss, and perceptions of the cultural appropriateness of a meal-timing intervention design and menu among Native Hawaiian and Pacific Islander (NHPI) women at risk of endometrial cancer. METHODS: Six 90-min videoconference focus groups among NHPI women (n = 35) recruited by a community champion in Utah. Eligible women were aged ≥ 18 years at risk of endometrial cancer (i.e., BMI ≥ 25 kg/m2, history of non-insulin-dependent diabetes or complex atypical endometrial hyperplasia) had a working cell phone capable of downloading a phone app, could use their cell phone during the day, and were not night-shift workers. Twelve semi-structured questions were posed during the focus groups. Using inductive qualitative methods based on Hatch's 9-step approach, de-identified transcript data were analyzed. RESULTS: Overarching themes included economic factors, cultural influences, meal choice and timing, and perceptions of health. Subthemes included affordability, waste avoidance, inundated schedules, and cultural influences. Perceptions of body size and weight loss were influenced by family, community, and social media, whose messages could be conflicting. Important intervention components included satisfying, convenient pre-made meals, while barriers included the need to cook for family members. CONCLUSIONS: Dietary interventions targeting metabolic health among NHPI women should consider the multitude of sociocultural and economic factors that influence food choices and meal timing in this population, including affordability, hectic schedules, and immigrant adjustment. Promoting the link between physical and mental well-being as opposed to weight loss is a key approach to reaching this population.


Assuntos
Neoplasias do Endométrio , Havaiano Nativo ou Outro Ilhéu do Pacífico , Humanos , Feminino , População das Ilhas do Pacífico , Havaí/epidemiologia , Dieta , Redução de Peso
2.
Biochim Biophys Acta ; 1096(4): 301-11, 1991 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-1829642

RESUMO

We have investigated several parameters of glucocerebrosidase in cultured skin fibroblasts from patients with various clinical phenotypes of Gaucher disease. In this study no strict correlation was found between the clinical manifestations of Gaucher disease and the parameters investigated in fibroblasts. These parameters included the specific activity of the enzyme in extracts towards natural lipid and artificial substrate in the presence of different activators; the enzymic activity per unit of glucocerebrosidase protein; the rate of synthesis of the enzyme and its stability; and the post-translational processing of the enzyme. In addition, the activity in situ of glucocerebrosidase in fibroblasts was investigated using a novel method by analysis of the catabolism of NBD-glucosylceramide in cells that were loaded with bovine serum albumin-lipid complexes. Again, no complete correlation with the clinical phenotype of patients was detectable. Glucocerebrosidase in fibroblasts from most non-neuronopathic (type 1) Gaucher disease patients differs in some aspects from enzyme in cells from patients with neurological forms (types 2 and 3). The stimulation by activator protein and phospholipid is clearly more pronounced in type 1 than in types 2 and 3; the enzymic activity per unit of glucocerebrosidase protein in type 1 is severely reduced in the presence of taurocholate and the amount of glucocerebrosidase appears (near) normal in contrast to the situation in types 2 and 3 Gaucher fibroblasts. However, this distinction was not always consistent; glucocerebrosidase in fibroblasts from some type 1 Gaucher patients, particularly some South African cases, was comparable in properties to enzyme in type 2 and 3 patients.


Assuntos
Doença de Gaucher/enzimologia , Glucosilceramidase/metabolismo , Catepsina D/metabolismo , Células Cultivadas , Centrifugação com Gradiente de Concentração , Eletroforese em Gel de Poliacrilamida , Fibroblastos/enzimologia , Doença de Gaucher/genética , Glucosilceramidase/genética , Glucosilceramidas/metabolismo , Humanos , Immunoblotting , Mutação , Fenótipo , Temperatura , beta-N-Acetil-Hexosaminidases/metabolismo
3.
Clin Neurol Neurosurg ; 93(2): 115-8, 1991.
Artigo em Inglês | MEDLINE | ID: mdl-1652391

RESUMO

Sialidosis type I has been described in several ethnic groups but to the best of our knowledge has not been reported in Indian families. We report on the clinical, biochemical and electrophysiological features in three siblings born to parents of South Indian origin. The diagnosis was missed for two years as they were labelled as cases of Ramsay-Hunt Syndrome.


Assuntos
Erros Inatos do Metabolismo dos Carboidratos/fisiopatologia , Neuraminidase/deficiência , Ácidos Siálicos/metabolismo , Adolescente , Erros Inatos do Metabolismo dos Carboidratos/enzimologia , Erros Inatos do Metabolismo dos Carboidratos/genética , Cromatografia em Camada Fina , Eletroencefalografia , Feminino , Humanos , Índia , Lisossomos/enzimologia , Masculino , Condução Nervosa/fisiologia , Oligossacarídeos/urina , Linhagem , Nervo Fibular/fisiologia , Nervo Sural/fisiologia , População Branca
8.
S Afr Med J ; 69(1): 63-8, 1986 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-3079922

RESUMO

The clinical, radiological and biochemical findings in a black girl with a rare, inherited mucopolysaccharide storage disease, Sanfilippo's syndrome (mucopolysaccharidosis (MPS) III) type C, are described. Practical points concerning the biochemical diagnosis of this condition, arising from unusual characteristics of the deficient enzyme acetyl CoA: alpha-glucosaminide N-acetyltransferase, are discussed. Because phenotypic manifestations of mucopolysaccharidosis are mild in all four types of Sanfilippo's syndrome and screening tests for mucopolysacchariduria in these patients may be negative, many cases may be passed unrecognized or simply labelled as cases of nonspecific mental retardation. It is suggested that Sanfilippo's syndrome is grossly underdiagnosed in the RSA and clinicians are urged to develop a greater awareness of the existence, and often subtle presentation, of the condition.


Assuntos
Mucopolissacaridoses/diagnóstico , Mucopolissacaridose III/diagnóstico , Acetiltransferases/deficiência , Negro ou Afro-Americano , População Negra , Pré-Escolar , Sulfatos de Condroitina/urina , Feminino , Heparitina Sulfato/urina , Humanos , Mucopolissacaridose III/diagnóstico por imagem , Mucopolissacaridose III/enzimologia , Mucopolissacaridose III/urina , Radiografia , África do Sul
9.
S Afr Med J ; 82(2): 126-8, 1992 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-1509325

RESUMO

The first known case of alpha-mannosidosis in the RSA is reported. Presentation was classic, viz. delayed speech, kyphoscoliosis and hearing loss at the age of 4 years. Among the generally rare inherited lysosomal storage diseases, alpha-mannosidosis is regarded in Europe and the USA as one of the more common disorders. It is suggested that the apparent underdiagnosis in South Africa may stem from lack of clinical recognition of a condition, which is relatively simple to diagnose biochemically. The clinical and radiological features of the child are described in the hope that clinicians will develop an awareness of the disorder, and include it in the differential diagnosis of deaf children who may also have mild skeletal abnormalities. Antenatal diagnosis of this untreatable condition is possible, so the birth of further affected children in a family could be prevented.


Assuntos
alfa-Manosidose/diagnóstico , Pré-Escolar , Humanos , Masculino , África do Sul
10.
S Afr Med J ; 64(13): 490-2, 1983 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-6623230

RESUMO

The diagnosis of the non-neuropathic form of Gaucher's disease was confirmed by haematological and enzymatic investigations in a Black girl. The aetiological relationship of this condition with Gaucher's disease in other populations is uncertain, but lack of expression of the enzyme defect in the white blood cells in our patient might be significant in this context. This case serves to emphasize that Gaucher's disease enters into the differential diagnosis of unexplained splenomegaly, irrespective of the ethnic background of the affected person.


Assuntos
Doença de Gaucher/diagnóstico , Adolescente , População Negra , Diagnóstico Diferencial , Feminino , Doença de Gaucher/complicações , Humanos , Esplenomegalia/complicações
11.
S Afr Med J ; 72(10): 704-7, 1987 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-3120323

RESUMO

The clinical and biochemical findings in 3 siblings with Morquio's disease type B (mucopolysaccharidosis (MPS) IV B) are presented. Their phenotype is characterised by short trunk dwarfism with kyphoscoliosis and thoracic deformity. Radiographic findings include general platyspondyly, dysplasia of the pelvis and epiphyseal abnormalities. The patients are of normal intelligence. In the urine of all 3 affected children abnormal oligosaccharide excretion was found by thin-layer chromatography and in 1 of them keratosulphaturia was detected. The clinical diagnosis was confirmed biochemically by demonstration of a profound deficiency of beta-galactosidase activity in cultured fibroblasts. The clinical picture is compared with that of other cases in the literature and the possible molecular basis of the different phenotypes of beta-galactosidase deficiency (variants of monosialo-ganglioside-1 (GM1)-gangliosidosis, Morquio's disease type B) is discussed.


Assuntos
Mucopolissacaridose IV/genética , Adolescente , Criança , Feminino , Humanos , Masculino , beta-Galactosidase/deficiência
12.
S Afr Med J ; 66(18): 688-90, 1984 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-6149625

RESUMO

Prenatal diagnosis of cystic fibrosis (CF) has been made possible by the finding that the activity of various enzymes derived from the microvillar membranes of the fetus is decreased in 2nd trimester amniotic fluid. Gamma-glutamyl transpeptidase, aminopeptidase M and the phenylalanine-inhibitable form of alkaline phosphatase (AP) have been found to be of most diagnostic use in this respect, the odds of the fetus being affected with CF being 28:1 if the AP test is positive. When couples have already had a child with CF, pregnancies are being monitored by these methods at the University of Cape Town.


Assuntos
Fosfatase Alcalina/análise , Fibrose Cística/diagnóstico , Diagnóstico Pré-Natal/métodos , gama-Glutamiltransferase/análise , Líquido Amniótico/enzimologia , Feminino , Aconselhamento Genético , Humanos , Gravidez
13.
S Afr Med J ; 80(2): 92-8, 1991 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-1862440

RESUMO

Prenatal diagnostic testing for cystic fibrosis (CF) in South Africa has been available by microvillar enzyme (MVE) assay since 1984 and by DNA investigation since 1987. The advantages and practical uses of these two procedures are reviewed. Over the period 1984-1989, 59 MVE assays and 13 DNA investigations (1 woman had both done; total number of pregnancies tested 71) were performed for the prenatal diagnosis of CF in high-risk families. Of the 71 pregnancies tested (65 white woman, 4 mixed race and 2 Indian), 18 fetuses were found to be affected: of these, 15 couples chose to have the pregnancies terminated. In 2 fetuses tested the MVE assays were 'equivocal' and the babies were born affected. By using population genetic and demographic data it is estimated that the present rate of prenatal diagnosis and prevention satisfies about one-quarter of the projected and practically achievable annual need. It is also tentatively shown that only about 60% of the projected number of high-risk families are at present on record. It is concluded that more systematic efforts should be directed at carefully guided information and awareness campaigns, in order to draw more CF families into the mainstream of voluntary genetic services. The identification and cloning of the CF gene (in 1989) has made it possible to extend considerably the present strategy of prevention and to include lower-risk and extended CF families in due time.


Assuntos
Líquido Amniótico/enzimologia , Fibrose Cística/prevenção & controle , Doenças Fetais/diagnóstico , Diagnóstico Pré-Natal/métodos , População Negra , Ensaios Enzimáticos Clínicos , Fibrose Cística/diagnóstico , Feminino , Marcadores Genéticos , Humanos , Gravidez , África do Sul , População Branca
14.
Prog Clin Biol Res ; 95: 495-510, 1982.
Artigo em Inglês | MEDLINE | ID: mdl-6812084

RESUMO

Electrophoresis of the beta-glucosidase isozymes from various normal human sources revealed that cultured fibroblasts expressed only the acid beta-glucosidase isozyme. Therefore, selected physical and kinetic properties of the residual acid beta-glucosidase activities in fibroblasts from Gaucher Type 1 homozygotes of various ethnic backgrounds were compared. The findings of different specific activities, thermostabilities, apparent Km values, and electrophoretic migrations of the residual activities from the ethnic variants provided the first biochemical evidence of genetic heterogeneity in Type 1 Gaucher disease.


Assuntos
Doença de Gaucher/genética , Glucosidases/genética , beta-Glucosidase/genética , Células Cultivadas , Eletroforese , Etnicidade , Fibroblastos/enzimologia , Doença de Gaucher/enzimologia , Homozigoto , Temperatura Alta , Humanos , Concentração de Íons de Hidrogênio , Pele/enzimologia , beta-Glucosidase/metabolismo
15.
S Afr Med J ; 58(21): 860-2, 1980 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-6777881

RESUMO

An infant with hypotonia, gross cardiomegaly and heart failure is described. Angiocardiography revealed a hypertrophic restrictive cardiomyopathy. The diagnosis of type II glycogenosis was confirmed by the total absence of alpha-1,4-glucosidase in cultured skin fibroblasts. It is now possible to offer prenatal diagnosis by amniocentesis to women at risk of having affected children.


Assuntos
Ensaios Enzimáticos Clínicos , Glucana 1,4-alfa-Glucosidase/análise , Glucosidases/análise , Doença de Depósito de Glicogênio Tipo II/diagnóstico , Doença de Depósito de Glicogênio/diagnóstico , Eletrocardiografia , Feminino , Fibroblastos/análise , Humanos , Lactente , alfa-Glucosidases
16.
Acta Orthop Scand ; 63(6): 658-60, 1992 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-1471517

RESUMO

In a blinded, placebo-controlled study, the nonsteroidal antiinflammatory drug piroxicam, in combination with the partial morphine agonist/antagonist buprenorphine, was compared with buprenorphine alone for analgesic effect and side-effects in a 10-day period following total replacement of the hip or knee. 117 patients entered and 81 completed the study. The patients receiving piroxicam consumed less buprenorphine. There were no differences concerning side-effects between the two treatment groups, apart from a tendency towards less nausea after the third postoperative day in the group receiving piroxicam.


Assuntos
Buprenorfina/uso terapêutico , Prótese de Quadril , Prótese do Joelho , Dor Pós-Operatória/tratamento farmacológico , Piroxicam/uso terapêutico , Buprenorfina/efeitos adversos , Método Duplo-Cego , Esquema de Medicação , Quimioterapia Combinada , Humanos , Piroxicam/efeitos adversos
17.
S Afr Med J ; 54(4): 168-70, 1978 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-567850

RESUMO

Degenerative diseases of the cerebral white matter are rare, but have severe consequences. The diagnosis of one such disorder, Krabbe's disease, may be made by biochemical analysis of cultured fibroblasts. As the disease is inherited as an autosomal recessive trait, there is a high risk of affected children being born to a heterozygote couple. A description is given of an infant with Krabbe's disease and of the monitoring of the mother's second pregnancy in which an affected fetus was found.


Assuntos
Doenças Fetais/diagnóstico , Leucodistrofia de Células Globoides/diagnóstico , Líquido Amniótico/análise , Feminino , Fibroblastos/análise , Galactosidases/análise , Galactosilceramidas/análise , Hexosaminidases/análise , Humanos , Lactente , Lactosilceramidas/análise , Leucodistrofia de Células Globoides/congênito , Gravidez
18.
Am J Hum Genet ; 44(6): 787-93, 1989 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-2658562

RESUMO

The molecular nature of lysosomal alpha-glucosidase deficiency was studied in five South African families with glycogenosis type II. Distinct ethnic origins were represented. Two new mutant acid alpha-glucosidase alleles were discovered. In two infantile patients from a consanguineous Indian family we found for the first time an acid alpha-glucosidase precursor of reduced size. The mutant precursor appeared normally glycosylated and phosphorylated but was not processed to mature enzyme. Abnormalities of the mRNA were not obvious, but digestion of genomic DNA with HindIII, BglII, and StuI revealed for each enzyme a fragment of increased length. Heterozygosity was demonstrated in the parents. Complete lack of acid alpha-glucosidase mRNA, as well as deficiency of precursor synthesis, was observed in two black baby girls from unrelated families. In these cases the length of all restriction-enzyme fragments was normal. Reduced enzyme synthesis but normal processing was registered in juvenile and young adult Cape colored patients. The extensive heterogeneity of glycogenosis type II is emphasized in these studies on various ethnic groups. The newly discovered mutants are valuable for the understanding of clinical diversity as a result of allelic variation.


Assuntos
Doença de Depósito de Glicogênio Tipo II/enzimologia , alfa-Glucosidases/genética , Adolescente , Adulto , População Negra/genética , Células Cultivadas , Criança , Pré-Escolar , DNA/análise , Feminino , Doença de Depósito de Glicogênio Tipo II/etnologia , Doença de Depósito de Glicogênio Tipo II/genética , Humanos , Immunoblotting , Índia/etnologia , Lactente , Masculino , Mutação , Namíbia/etnologia , Países Baixos/etnologia , Linhagem , África do Sul , alfa-Glucosidases/análise , alfa-Glucosidases/biossíntese
19.
S Afr Med J ; 54(8): 305-9, 1978 Aug 19.
Artigo em Inglês | MEDLINE | ID: mdl-82278

RESUMO

Over a period of 5 years, 434 women at risk of having abnormal babies have had antenatal daignostic tests carried out during the first half of their pregnancy by the laboratories of the Department of Human Genetics, University of Cape Town. From these investigations, it was predicted that 13 fetuses had chromosomal abnormalities, 6 had severe central nervous system defects and 4 had autosomal recessive metabolic disorders. In addition, 4 cases with X-linked recessive traits were monitored and 3 male fetuses were recognized. Affected pregnancies were terminated except for 1 with a fetal sex-linked disorder where the parents revoked their original decision. The diagnosis was confirmed by fetal autopsies in all cases except 4 (2 spontaneous abortions and 2 out-of-town terminations). There was only 1 case where culture failed and the pregnancy went to term with the birth of a baby with Down syndrome. Antenatal diagnosis is now an important part of normal clinical practice. The fact that the fetal abnormalities were recognized in 6% of pregnancies is justification for the use of this procedure.


Assuntos
Anormalidades Congênitas/diagnóstico , Diagnóstico Pré-Natal , Amniocentese , Líquido Amniótico/análise , Líquido Amniótico/patologia , Aberrações Cromossômicas/diagnóstico , Transtornos Cromossômicos , Feminino , Humanos , Idade Materna , Erros Inatos do Metabolismo/diagnóstico , Gravidez , Risco , África do Sul , Estatística como Assunto , alfa-Fetoproteínas/análise
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