Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 139
Filtrar
1.
Int J Obes (Lond) ; 42(1): 115-118, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-28871150

RESUMO

Intragastric Balloons are a temporary, reversible and safer option compared to bariatric surgery to promote significant weight loss, leading to improved metabolic outcomes. However, due to subsequent weight regain, alternative procedures are now preferred in adults. In adolescents, more amenable to lifestyle change, balloons may be an alternative to less reversible procedures. Our aim was to assess the tolerability and efficacy of the intragastric balloon in severely obese adolescents and the impact of associated weight loss on biomedical outcomes (glucose metabolism, blood pressure, lipid profiles) and bone density. A 2-year cohort study of 12 adolescents (BMI >3.5 s.d., Tanner stage >4) following 6 months intragastric balloon placement was carried out. Subjects underwent anthropometry, oral glucose tolerance test, and DEXA scans at 0, 6 and 24 months. The results showed clinically relevant improvements in blood pressure, insulin: glucose metabolism, liver function and sleep apnoea at 6 months. Changes were not sustained at 2 years though some parameters (Diastolic BP, HBA1c, insulin AUC) demonstrated longer-term improvement despite weight regain. Despite weight loss, bone mass accrual showed age appropriate increases. In conclusion, the intragastric balloon was safe, well tolerated and effective in supporting short-term weight loss and clinically relevant improvement in obesity-related complications, which resolved in some individuals. Benefits were not sustained in the majority at 2 years.


Assuntos
Balão Gástrico , Obesidade Mórbida , Adolescente , Pressão Sanguínea , Índice de Massa Corporal , Estudos de Viabilidade , Feminino , Humanos , Hipertensão/complicações , Masculino , Obesidade Mórbida/complicações , Obesidade Mórbida/fisiopatologia , Obesidade Mórbida/cirurgia , Resultado do Tratamento , Redução de Peso
2.
Arch Dis Child ; 102(6): 503-508, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-27998884

RESUMO

BACKGROUND: Many infants born prematurely experience growth failure following delivery, with subsequent catch-up growth. Traditionally catch-up was thought to be complete in the first few years of life. Most studies have focused on groups of infants defined by birth weight, for example <1500 g, resulting in disproportionate numbers of small for gestational age infants. This study aimed to determine whether appropriate weight for gestation (AGA) preterm born children reach their expected adult height when compared with term controls. METHODOLOGY: This UK based prospective longitudinal cohort study recruited 204 preterm children born at a tertiary neonatal unit during 1994 and 50 matched controls. Growth parameters have been assessed annually until the completion of growth. RESULTS: There was no significant difference in the final height SD score (SDS) of children born at term (n=30) and those born prematurely and AGA (n=70) (0.45 term vs 0.22 preterm). Catch-up growth however, continued throughout the whole of childhood. When the difference between final height SDS and mid-parental height SDS were compared, there were again no significant differences (0.13 term vs 0.03 preterm). CONCLUSIONS: Those born prematurely with an AGA achieve a comparable adult height to children born at term, however, catch-up growth continues for much longer than traditionally thought.


Assuntos
Estatura/fisiologia , Recém-Nascido Prematuro/crescimento & desenvolvimento , Adulto , Envelhecimento/fisiologia , Antropometria/métodos , Estudos de Casos e Controles , Desenvolvimento Infantil/fisiologia , Feminino , Idade Gestacional , Crescimento/fisiologia , Humanos , Recém-Nascido , Estudos Longitudinais , Masculino , Valores de Referência , Caracteres Sexuais , Nascimento a Termo
3.
Int J Obes (Lond) ; 41(4): 591-597, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-27795553

RESUMO

BACKGROUND: Severe adolescent obesity (body mass index (BMI) >99.6th centile) is a significant public health challenge. Current non-invasive treatments, including community-based lifestyle interventions, are often of limited effectiveness in this population, with NICE guidelines suggesting the use of bariatric surgery as the last line of treatment. Health professionals are understandably reluctant to commission bariatric surgery and as an alternative, the use of an intra-gastric balloon as an adjunct to a lifestyle programme might offer a reversible, potentially safer and less invasive option. OBJECTIVES: Explore the use of an intra-gastric balloon as an adjunct to a lifestyle support programme, to promote weight loss in severely obese adolescents. Outcomes included weight loss, waist and hip measurements, psychosocial outcomes including health-related quality of life (HRQoL) and physical self perceptions, physical activity and cardiorespiratory fitness. METHOD: Non-randomised pilot study. RESULTS: Twelve severely obese adolescents (5 males, 7 females; mean age 15 years; BMI >3.5 s.d.; puberty stage 4 or more) and their families were recruited. Mean weight loss at 12 months (n=9) was 3.05 kg±14.69; d=0.002, P=0.550, and a BMI Z-score (n=12) change of 0.2 s.d.; d=0.7, P=0.002 was observed at 6 months with a large effect, but was not sustained at 12 months (mean change 0.1 s.d.; d=0.3, P=0.146). At 24 months (n=10), there was a weight gain from baseline of +9.9 kg±1.21 (d=0.4; P=0.433). Adolescent and parent HRQoL scores exceeded the minimal clinical important difference between baseline and 12 months for all domains but showed some decline at 24 months. CONCLUSION: An intra-gastric balloon as an adjunct to a lifestyle support programme represents a safe and well-tolerated treatment approach in severely obese adolescents, with short-term effects on weight change. Improvements in psychosocial health, physical activity and cardiorespiratory fitness were maintained at 12 months, with varying results at 24 months.


Assuntos
Aptidão Cardiorrespiratória/fisiologia , Exercício Físico/fisiologia , Balão Gástrico , Obesidade Mórbida/terapia , Obesidade Infantil/terapia , Comportamento de Redução do Risco , Redução de Peso/fisiologia , Adolescente , Aptidão Cardiorrespiratória/psicologia , Inglaterra , Exercício Físico/psicologia , Feminino , Seguimentos , Humanos , Masculino , Obesidade Mórbida/epidemiologia , Obesidade Mórbida/fisiopatologia , Obesidade Mórbida/psicologia , Obesidade Infantil/epidemiologia , Obesidade Infantil/fisiopatologia , Obesidade Infantil/psicologia , Projetos Piloto , Qualidade de Vida , Fatores de Tempo , Resultado do Tratamento
4.
Diabet Med ; 33(2): 192-203, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26248789

RESUMO

AIM: To assess the effect of a 5-day structured education course (Kids in Control of Food; KICk-OFF) on biomedical and psychological outcomes in young people with Type 1 diabetes. METHODS: This was a cluster-randomized trial involving 31 UK paediatric centres. Participants were recruited prior to stratified centre randomization. Intervention centres delivered KICk-OFF courses, whereas control centres delivered usual care. Participants were 11-16 years of age and had Type 1 diabetes for at least one year. The KICk-OFF course was delivered by trained educators to eight participants per course. Glycaemic control and quality of life were measured at baseline, 6, 12 and 24 months. Secondary outcomes were hypoglycaemia, ketoacidosis, fear of hypoglycaemia and diabetes self-efficacy. RESULTS: Three hundred and ninety-six participants provided baseline data (199 intervention and 197 control). At 6 and 12 months the intervention group showed significantly improved total generic quality of life scores compared with controls (baseline: 80 vs. 82; 6 months: 82 vs. 82; P = 0.04). Across the whole intervention group mean HbA1c levels were not significantly different from controls; baseline HbA1c mean (95% confidence interval), 78 mmol/mol (75-81) vs. 76 mmol/mol (74-79) [9.3% (9-9.6%) vs. 9.1% (8.9-9.4%); 24 months: 77 mmol/mol (74-79) vs. 78 mmol/mol (75-81) (9.2% (8.9-9.4%) vs. 9.3% (9-9.6%)], adjusted mean difference, -2.0 mmol/mol (6.5-2.5) [2.3% (-2.7% to 2.4%)], P = 0.38. CONCLUSIONS: Attending a KICk-OFF course was associated with significantly improved total quality of life scores within 6 months. Glycaemic control, as measured by HbA1c , was no different at 24 months. (Clinical Trial Registry No: ISRCTN3704268).


Assuntos
Fenômenos Fisiológicos da Nutrição do Adolescente , Diabetes Mellitus Tipo 1/terapia , Dieta para Diabéticos , Ajustamento Emocional , Cooperação do Paciente , Educação de Pacientes como Assunto , Estresse Psicológico/prevenção & controle , Adolescente , Criança , Fenômenos Fisiológicos da Nutrição Infantil , Análise por Conglomerados , Estudos de Coortes , Terapia Combinada , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/psicologia , Feminino , Seguimentos , Processos Grupais , Humanos , Hiperglicemia/prevenção & controle , Hipoglicemia/prevenção & controle , Masculino , Qualidade de Vida , Estresse Psicológico/complicações , Estresse Psicológico/etiologia , Reino Unido
5.
J Clin Endocrinol Metab ; 100(10): E1362-9, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26259131

RESUMO

CONTEXT: GLIS3 (GLI-similar 3) is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein with 5 C2H2-type zinc finger domains. The protein is expressed early in embryogenesis and plays a critical role as both a repressor and activator of transcription. Human GLIS3 mutations are extremely rare. OBJECTIVE: The purpose of this article was determine the phenotypic presentation of 12 patients with a variety of GLIS3 mutations. METHODS: GLIS3 gene mutations were sought by PCR amplification and sequence analysis of exons 1 to 11. Clinical information was provided by the referring clinicians and subsequently using a questionnaire circulated to gain further information. RESULTS: We report the first case of a patient with a compound heterozygous mutation in GLIS3 who did not present with congenital hypothyroidism. All patients presented with neonatal diabetes with a range of insulin sensitivities. Thyroid disease varied among patients. Hepatic and renal disease was common with liver dysfunction ranging from hepatitis to cirrhosis; cystic dysplasia was the most common renal manifestation. We describe new presenting features in patients with GLIS3 mutations, including craniosynostosis, hiatus hernia, atrial septal defect, splenic cyst, and choanal atresia and confirm further cases with sensorineural deafness and exocrine pancreatic insufficiency. CONCLUSION: We report new findings within the GLIS3 phenotype, further extending the spectrum of abnormalities associated with GLIS3 mutations and providing novel insights into the role of GLIS3 in human physiological development. All but 2 of the patients within our cohort are still alive, and we describe the first patient to live to adulthood with a GLIS3 mutation, suggesting that even patients with a severe GLIS3 phenotype may have a longer life expectancy than originally described.


Assuntos
Doenças Ósseas/genética , Hipotireoidismo Congênito/genética , Deficiências do Desenvolvimento/genética , Diabetes Mellitus/genética , Resistência à Insulina/genética , Hepatopatias/genética , Fenótipo , Fatores de Transcrição/genética , Doenças Ósseas/congênito , Proteínas de Ligação a DNA , Diabetes Mellitus/congênito , Feminino , Humanos , Lactente , Recém-Nascido , Hepatopatias/congênito , Masculino , Proteínas Repressoras , Transativadores
7.
Arch Dis Child Educ Pract Ed ; 97(3): 98-105, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22611124

RESUMO

This expert opinion provides detailed guidance on assessing obesity in secondary paediatric practice. This guidance builds on existing recommendations from National Institute of Health and Clinical Excellence in the UK, and is evidence based where possible. Guidance is provided on which obese children and young people are appropriate to be seen in secondary care and relevant history and investigations, and guidance on when further investigation of causes and obesity-related comorbidity is appropriate.


Assuntos
Obesidade/etiologia , Obesidade/terapia , Encaminhamento e Consulta , Glicemia/análise , Índice de Massa Corporal , Criança , Jejum , Humanos , Insulina/análise , Lipídeos/sangue , Testes de Função Hepática , Anamnese , Síndrome Metabólica/diagnóstico , Exame Físico , Sono , Apneia Obstrutiva do Sono/diagnóstico
8.
Clin Endocrinol (Oxf) ; 75(4): 443-9, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21635277

RESUMO

CONTEXT: Increasing numbers of very low birth weight (VLBW) infants are surviving into adulthood because of improvements in neonatal intensive care. Adverse events in early life can have long-term effects through reprogramming of metabolic systems. OBJECTIVE: To determine whether young adult VLBW survivors have abnormalities of skeletal development or endocrine function. DESIGN: Cross-sectional, observational, case-control study. PARTICIPANTS: Thirty-seven VLBW subjects and 27 healthy controls at peak bone mass (mean age 23). MEASUREMENTS: Differences between cases and controls in body size, body composition, bone mass and bone geometry [assessed by dual-energy X-ray absorptiometry (DXA), hip structure analysis and peripheral quantitative computed tomography (pQCT)], bone turnover [urine N-terminal telopeptide of type I collagen (NTX), serum C-terminal telopeptide of type I collagen (CTX)], aminoterminal propeptide of type I procollagen (PINP) and bone alkaline phosphatase), hormones (sex steroids, IGF-1, PTH and 25-OH vitamin D) and insulin sensitivity (HOMA-IR and oral glucose tolerance testing). RESULTS: VLBW subjects had lower bone density at the lumbar spine (5.7%) and femoral neck (8.6%), which persisted after correction for bone size by the estimation of volumetric density (bone mineral apparent density). Urine NTX was higher in VLBW subjects than in controls, but there were no significant differences in other bone turnover markers. VLBW survivors had lower insulin sensitivity (mean INS-30 controls = 57.0, VLBW subjects = 94.3, P < 0.01), but there were no differences in whole body fat mass or truncal fat mass between VLBW subjects and controls. CONCLUSIONS: Young adult VLBW survivors have reduced bone density for their bone size and reduced insulin sensitivity, which may have significant implications for their risk of fracture and diabetes in later life.


Assuntos
Densidade Óssea/fisiologia , Recém-Nascido de muito Baixo Peso/sangue , Recém-Nascido de muito Baixo Peso/metabolismo , Resistência à Insulina/fisiologia , Absorciometria de Fóton , Adulto , Estudos de Casos e Controles , Colágeno Tipo I/sangue , Estudos Transversais , Feminino , Teste de Tolerância a Glucose , Articulação do Quadril/diagnóstico por imagem , Articulação do Quadril/metabolismo , Humanos , Recém-Nascido , Masculino , Peptídeos/sangue , Adulto Jovem
9.
Eur J Endocrinol ; 164(3): 437-43, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21139041

RESUMO

INTRODUCTION: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with six affected cases from three families reported to date. Additional features, described previously, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay and facial dysmorphism. SUBJECTS: We report two new cases from unrelated families with distinct novel homozygous partial GLIS3 deletions. Both patients presented with neonatal diabetes mellitus, severe resistant hypothyroidism in the presence of elevated thyroglobulin and normal thyroid anatomy, degenerative liver disease, cystic renal dysplasia, recurrent infections and facial dysmorphism. These novel mutations have also resulted in osteopenia, bilateral sensorineural deafness and pancreatic exocrine insufficiency, features that have not previously been associated with GLIS3 mutations. Gene dosage analysis showed that the parents were carriers of a deletion encompassing exons 1-2 (case 1) or exons 1-4 (case 2) of the 11 exon gene. Genome-wide SNP analysis did not reveal a common ancestral GLIS3 haplotype in patient 2. CONCLUSIONS: Our results confirm partial gene deletions as the most common type of GLIS3 mutations, accounting for four of five families identified to date. We propose that mutations in GLIS3 lead to a wider clinical phenotype than previously recognised. We also report the first case of a recessive GLIS3 mutation causing neonatal diabetes and congenital hypothyroidism in a child from a non-consanguineous pedigree, highlighting the importance of molecular genetic testing in any patient with this phenotype.


Assuntos
Mutação , Fenótipo , Fatores de Transcrição/genética , Hipotireoidismo Congênito/genética , Proteínas de Ligação a DNA , Diabetes Mellitus/genética , Éxons/genética , Feminino , Dosagem de Genes/genética , Haplótipos/genética , Humanos , Recém-Nascido , Masculino , Proteínas Repressoras , Transativadores
10.
Bone ; 48(2): 189-96, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20932948

RESUMO

UNLABELLED: Obese children, particularly those who have fractured, have reduced body size-adjusted total body and regional bone mass. We performed an observational cross-sectional cohort study to determine the relationship between adipokines (leptin and adiponectin), bone-derived cytokines and bone turnover in children which may explain this observation. Participants aged 5-16 years were recruited into obese (BMI SDS 3.3±0.6) and lean (BMI SDS 0.2±1.0) groups and further subdivided into groups by fracture history. Free leptin (leptin/leptin soluble receptor) and adiponectin; RANK-ligand (RANKL), osteoprotegerin (OPG); Dickkopf-1 (DKK1); and the bone turnover markers procollagen type I amino propeptide (P1NP) and carboxy-terminal telopeptide of type I collagen (CTx). Total body and truncal fat mass were measured by DXA. RESULTS: Free leptin (p>0.0001) and adiponectin (p=0.0002) were higher and lower in obese children respectively. OPG was lower in obese children (p=0.01), being inversely related to free leptin (p=0.009), total body and truncal fat mass (both p=0.01). RANKL was inversely related to free leptin in children with prior fracture (p=0.03). CTx was higher in obese children (p=0.003). Free leptin was positively associated with both CTx (p=0.03) and P1NP (p=0.02). DKK1 was inversely related to adiponectin (p=0.02). CONCLUSION: Bone formation relative to resorption was reduced in obese children; this difference was accentuated in those with prior fracture. Adipokines may regulate these changes. Osteoprotegerin may play a fundamental role in the failure of obese children to accrue bone mass appropriately.


Assuntos
Adipocinas/sangue , Obesidade/sangue , Obesidade/metabolismo , Adipocinas/metabolismo , Adiponectina/sangue , Adiponectina/metabolismo , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/sangue , Peptídeos e Proteínas de Sinalização Intercelular/metabolismo , Leptina/sangue , Leptina/metabolismo , Masculino , Osteoprotegerina/sangue , Osteoprotegerina/metabolismo , Ligante RANK/sangue , Ligante RANK/metabolismo
11.
J Pediatr Endocrinol Metab ; 21(12): 1129-32, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19189685

RESUMO

BACKGROUND: There are few data in the paediatric literature on the normal cortisol response to stimulation during the low dose synacthen test (LDST) (1 microg). AIM: To examine the cortisol responses in children, subsequently presumed to be normal, who had an LDST during anterior pituitary function tests (APFTs). METHODS: A retrospective review of results in children with short stature and normal growth hormone levels. RESULTS: Of 33 children tested, seven had suboptimal cortisol responses based on accepted criteria (peak <500 nmol/l)--a false positive rate of 21%. Only three of these children had a repeat LDST, which was normal in all cases. The peak cortisol response (median 633, range, 417-1052 nmol/l) was inversely correlated with age (r = -0.44, p < 0.05). CONCLUSION: One in five tests did not meet normal criteria. This false positive rate (21%) should be borne in mind when interpreting synacthen tests to prevent overdiagnosis of adrenal insufficiency.


Assuntos
Insuficiência Adrenal/diagnóstico , Cosintropina , Hidrocortisona/sangue , Testes de Função Hipofisária/métodos , Adeno-Hipófise/fisiologia , Adolescente , Insuficiência Adrenal/sangue , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Reações Falso-Positivas , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Estudos Retrospectivos
12.
Eur J Endocrinol ; 157 Suppl 1: S61-5, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17785700

RESUMO

BACKGROUND: Phytosterolaemia (sitosterolaemia) is a rare autosomal recessive condition caused by mutations on the ABCG5 and ABCG8 gut transporter proteins. This leads to accumulation of plant-derived cholesterol-like molecules in blood and tissues. CASE: We describe a family of Bangladesh origin, where three siblings (two males and one female) have homozygous mutations for phytosterolaemia, and exhibit short stature and adrenal failure with the female having ovarian failure. FINDINGS: The index case (18-year-old female) and her sibling (16 years) have adrenal insufficiency with hyperpigmentation and raised levels of ACTH, at 367 and 690 ng/l respectively. The youngest child at 7 years has normal adrenal function. In addition, the index case has ovarian failure and sibling 2 has partial growth hormone deficiency. CONCLUSION: Although short stature is a recognised phenomenon, no previous association has been made between phytosterolaemia and other endocrine abnormalities. We postulate that the elevated plant sterol levels in phytosterolaemia may interfere with endocrine hormone synthesis; in particular, we present evidence that adrenal cholesterol metabolism may be preferentially affected, accounting for the adrenal insufficiency.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Insuficiência Adrenal/etiologia , Genes Recessivos , Lipoproteínas/genética , Mutação , Fitosteróis/sangue , Membro 5 da Subfamília G de Transportadores de Cassetes de Ligação de ATP , Membro 8 da Subfamília G de Transportadores de Cassetes de Ligação de ATP , Adolescente , Insuficiência Adrenal/sangue , Hormônio Adrenocorticotrópico/sangue , Estatura , Criança , Feminino , Transtornos do Crescimento/etiologia , Hormônio do Crescimento/deficiência , Homozigoto , Humanos , Hiperpigmentação/etiologia , Masculino , Linhagem , Insuficiência Ovariana Primária/etiologia
14.
Horm Res ; 65 Suppl 3: 75-81, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16612118

RESUMO

There is considerable evidence to show that babies born prematurely have poor postnatal growth, and the more premature the baby, the greater the impairment is likely to be and the longer it will persist. Nutrition has been shown to play an important part in this, but adequate nutrition is difficult, if not impossible, to achieve in these infants. In the most immature infants, growth retardation may continue for many months and catch-up may be delayed and incomplete. Evidence from long-term studies suggests that preterm infants will be shorter and lighter than term controls and that reduced stature and head size may be linked with lower intelligence. Although there is evidence linking better growth to better neurodevelopmental outcome, with reports suggesting that this can be achieved with dietary manipulation, there are also data that suggest that there could be a link between increased postnatal growth and increased morbidity and mortality in later childhood and adult life. Here, we provide an overview of current understanding of growth impairment in infants born prematurely and the effects in later life.


Assuntos
Recém-Nascido Prematuro/crescimento & desenvolvimento , Tamanho Corporal/fisiologia , Desenvolvimento Fetal/fisiologia , Humanos , Recém-Nascido , Análise de Regressão
15.
Br J Haematol ; 130(2): 297-309, 2005 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16029460

RESUMO

Phytosterolaemia (sitosterolaemia) is a recessively inherited metabolic condition in which the absorption of both cholesterol and plant-derived cholesterol-like molecules at the gut is unselective and unrestricted. In haematology, Mediterranean stomatocytosis or Mediterranean macrothrombocytopenia is a poorly understood haematological condition that combines stomatocytic haemolysis with the presence of very large platelets. Five pedigrees showing this haematology were identified. Gas chromatography mass spectrometry (GC-MS) showed that all of the patients with this highly specific haematology had grossly elevated levels of phytosterols in the blood, diagnostic of phytosterolaemia. All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia. Three pedigrees showed five new mutations, while two pedigrees showed the common W361X mutation in ABCG8. We draw the following four conclusions: (i) that Mediterranean stomatocytosis/macrothrombocytopenia is caused by an excess of phytosterols in the blood; (ii) that phytosterolaemia, which does not respond to standard statin treatment, can be diagnosed via the distinctive haematology described here, even when the cholesterol is normal; (iii) that phytosterolaemia should be considered in the differential diagnosis of all patients with large platelets; and (iv) that the platelet size should be noted in patients with hypercholesterolaemia.


Assuntos
Eritrócitos Anormais/patologia , Hemólise , Fitosteróis/sangue , Erros Inatos do Metabolismo de Esteroides/complicações , Trombocitopenia/etiologia , Membro 5 da Subfamília G de Transportadores de Cassetes de Ligação de ATP , Membro 8 da Subfamília G de Transportadores de Cassetes de Ligação de ATP , Transportadores de Cassetes de Ligação de ATP/genética , Adolescente , Adulto , Plaquetas/fisiologia , Plaquetas/ultraestrutura , Criança , Membrana Eritrocítica/química , Feminino , Humanos , Lipoproteínas/genética , Espectroscopia de Ressonância Magnética , Masculino , Mutação , Linhagem , Erros Inatos do Metabolismo de Esteroides/sangue , Erros Inatos do Metabolismo de Esteroides/genética , Trombocitopenia/sangue , Trombocitopenia/genética
16.
J Pediatr Endocrinol Metab ; 17(6): 905-8, 2004 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15270409

RESUMO

A diploid/triploid karyotype is an uncommon but important cause of true hermaphroditism and ambiguous genitalia. Individuals have a recognisable phenotype and characteristic hydatidiform placental changes. We report a 46,XX/69,XXY chimeric hermaphrodite. This case highlights the typical features (large placenta, intrauterine growth retardation, asymmetric growth, cranio-facial anomalies, syndactyly and pigmentary dysplasia). It illustrates the importance of obtaining skin and gonadal karyotypes in the case of genital ambiguity, as the venous lymphocytic karyotype is usually diploid.


Assuntos
Quimera , Transtornos do Desenvolvimento Sexual/etiologia , Disgenesia Gonadal 46 XX/complicações , Disgenesia Gonadal/complicações , Disgenesia Gonadal/genética , Quimera/genética , Anormalidades Craniofaciais/complicações , Feminino , Retardo do Crescimento Fetal/complicações , Disgenesia Gonadal/patologia , Disgenesia Gonadal 46 XX/genética , Disgenesia Gonadal 46 XX/patologia , Humanos , Recém-Nascido , Cariotipagem , Masculino
17.
Eur J Endocrinol ; 149(3): 179-85, 2003 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12943519

RESUMO

BACKGROUND/AIM: In childhood an appropriate response to GH treatment is achieved by titration of growth response against dose administered, with careful observation for side-effects. In order to evaluate the potential use of IGF monitoring in children treated with GH, a cross-sectional study has been carried in 215 children and adolescents (134 with GH deficiency (GHD), 54 with Turner syndrome (TS) and 27 with non-GHD growth disorders) treated with GH for 0.2-13.7 years. METHODS: IGF-I and IGF-binding protein-3 (IGFBP-3) were measured in ELISAs, using dried capillary blood collected onto filter papers. Results were expressed as the mean S.D. range (SDS). Values of either analyte < -2 or > +2 SDS were considered abnormal. RESULTS: IGF-I and IGFBP-3 SDS were higher in the TS and non-GHD groups (mean +0.01 and +0.1 respectively) than in those with GHD (mean value -0.6). Nineteen per cent of the IGF-I values (13% low, 6% high) and 12% of IGFBP-3 values were abnormal (10% low, 2% high). Abnormalities, either low or high, were most common in the GHD group. There was a weak but significant relationship between change in height SDS over the Year up to the time of sampling in the whole group and IGF-I SDS. Satisfactory growth performance (+0.5>change in height SDS> -0.5) was found in those with high (7.2%), normal (60%) and low (9.3%) IGF-I levels. Overall, it was estimated that 26% of the tests would indicate that an adjustment to GH dose (up in 18% and down in 8%) could be considered. CONCLUSIONS: From this cross-sectional study of IGF monitoring across a broad range of diagnoses and ages, it can be concluded that the majority of children on GH have normal levels of IGF-I and IGFBP-3, but 26% of tests could suggest that a change of GH dose should be considered. Regular monitoring of IGF-I and IGFBP-3 should be considered in any child on GH treatment.


Assuntos
Transtornos do Crescimento/sangue , Transtornos do Crescimento/tratamento farmacológico , Terapia de Reposição Hormonal , Hormônio do Crescimento Humano/uso terapêutico , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/sangue , Fator de Crescimento Insulin-Like I/metabolismo , Adolescente , Estatura , Criança , Pré-Escolar , Estudos Transversais , Ensaio de Imunoadsorção Enzimática , Feminino , Hormônio do Crescimento Humano/deficiência , Humanos , Lactente , Masculino
18.
Arch Dis Child ; 88(2): 155-6, 2003 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-12538322

RESUMO

AIMS: To investigate whether treatment of coexisting asthma has any effect on the incidence of hypoglycaemia and on glycaemic control in children with type 1 diabetes. METHODS: An observational study of children attending the paediatric diabetes clinics of five hospitals in the North Trent Region. Information on the frequency of hypoglycaemia in the preceding three months, treatment for asthma, and the individual's latest HbA1c, was recorded when they attended for review. RESULTS: Data were collected on 226 children, of whom 27 (12%) had treated asthma. Only 11/27 children with asthma were taking their prescribed inhaled steroids. All used beta agonists at least once a week. There was a reduction of 20% in the incidence of hypoglycaemia in the diabetic children with treated asthma. Of the children with diabetes and treated asthma, 52% reported an episode of hypoglycaemia in the previous three months compared to 72% of those with only diabetes. There was no difference in the proportion of children experiencing nocturnal or severe hypoglycaemia. Although not significant, those with asthma and diabetes also had better overall control (HbA1c 8.8%) compared to those with diabetes alone (HbA1c 9.3%). CONCLUSIONS: Diabetic children with treated asthma have significantly fewer episodes of hypoglycaemia and better glycaemic control compared to children with diabetes alone. This observation needs further investigation but raises an interesting question. Do the drugs used to treat asthma, in particular beta agonists, have the therapeutic potential to reduce hypoglycaemia and facilitate an improvement in glycaemic control?


Assuntos
Asma/tratamento farmacológico , Complicações do Diabetes , Hipoglicemia/prevenção & controle , Administração por Inalação , Adolescente , Agonistas Adrenérgicos beta/uso terapêutico , Asma/sangue , Asma/complicações , Criança , Diabetes Mellitus/sangue , Quimioterapia Combinada , Hemoglobinas Glicadas/análise , Humanos , Hipoglicemia/sangue , Esteroides/uso terapêutico
19.
J Pediatr Endocrinol Metab ; 15(7): 963-71, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12199340

RESUMO

Marked disturbance in eating behaviour and obesity are common sequelae of hypothalamic damage. To investigate whether these were associated with dysfunctional leptin central feedback, we evaluated serum leptin and leptin binding activity in 37 patients (age 3.5-21 yr) with tumour or trauma involving the hypothalamic-pituitary axis compared with 138 healthy children (age 5.0-18.2 yr). Patients were subdivided by BMI <2 SDS or > or = 2 SDS and healthy children and children with simple obesity of comparable age and pubertal status served as controls. Patients had higher BMI (mean 1.9 vs 0.2 SDS; p <0.001), a greater proportion had BMI > or = 2 SDS (54% vs 8%; p <0.001) and higher serum leptin (mean 2.1 vs 0.04 SDS; p <0.001) than healthy children. Serum leptin (mean 1.1 vs -0.1 SDS; p = 0.004) and values adjusted for BMI (median 0.42 vs 0.23 microg/l:kg/m2; p = 0.02) were higher in patients with BMI <2 SDS. However, serum leptin adjusted for BMI was similar in patients with BMI > or = 2 SDS compared to corresponding controls (1.08 vs 0.95; p = 0.6). Log serum leptin correlated with BMI SDS in all subject groups but the relationship in patients with BMI <2 SDS was of higher magnitude (r = 0.65, slope = 0.29, p =0.05 for difference between slopes) than in healthy controls (r = 0.42, slope = 0.19). Serum leptin binding activity (median 7.5 vs 9.3%; p = 0.02) and values adjusted for BMI (median 0.28 vs 0.48 % x m2/kg; p <0.001) were lower in patients than in healthy children. The markedly elevated leptin levels with increasing BMI in non-obese patients with hypothalamic-pituitary damage are suggestive of an unrestrained pattern of leptin secretion. This along with low leptin binding activity and hence higher free leptin levels would be consistent with central leptin insensitivity.


Assuntos
Doenças Hipotalâmicas/sangue , Leptina/sangue , Receptores de Superfície Celular/sangue , Tecido Adiposo/patologia , Adolescente , Índice de Massa Corporal , Criança , Feminino , Humanos , Doenças Hipotalâmicas/patologia , Leptina/metabolismo , Masculino , Radioterapia , Receptores de Superfície Celular/metabolismo , Receptores para Leptina
20.
Magn Reson Imaging ; 19(8): 1081-9, 2001 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11711232

RESUMO

Two of the recognized cranial MRI findings in children with neurofibromatosis type 1 (NF1) are neurofibromatosis bright objects (NBO) and brain glioma. Their differential diagnosis can be problematic. This study aimed to determine the features of these abnormalities on short echo-time in-vivo proton magnetic resonance spectroscopy. Twenty children under the age of 16 with NF1 were studied. A single voxel, short echo-time technique (TE = 20 ms; TR = 5000 ms) was used to obtain proton spectra of typical NBO and any regions suggestive of atypical bright objects or tumor. Nine children without neurofibromatosis with no structural brain abnormality acted as aged-matched comparisons. A semi-quantitative analysis indicated significant increase in choline and myo-inisitol in tumors compared to typical NBO (p < 0.05) and compared to controls (p < 0.05); reduction in the levels of N-acetyl moieties in NBO compared to controls (p < 0.05); reduction in N-acetyl in tumors compared to controls (p < 0.001); and reduction in glutamate/glutamine in tumors compared to controls (p < 0.05). This cross-sectional data suggests that proton spectroscopy can aid differentiating between NBO and brain (non-optic/hypothalamic) glioma. Typical NBO have different short echo-time spectroscopic appearances compared to normal brain.


Assuntos
Neoplasias Encefálicas/diagnóstico , Espectroscopia de Ressonância Magnética , Neurofibromatose 1/diagnóstico , Adolescente , Encéfalo/metabolismo , Encéfalo/patologia , Neoplasias Encefálicas/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Glioma/diagnóstico , Glioma/patologia , Humanos , Lactente , Masculino , Neurofibromatose 1/patologia , Estudos Prospectivos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...