RESUMO
AIM: To assess the current state of knowledge around sport-related concussion (SRC) guidelines and management among primary care doctors in New Zealand. METHODS: An online, self-administered, 21-item multi-choice questionnaire targeted at general practitioners and urgent care doctors in New Zealand was used. Main outcome measures were knowledge and management of patients with SRC through to return-to-sport. RESULTS: There were 230 total valid responses. Over half had no knowledge of the Consensus Statement on Concussion in Sport, and only 43% used the Sport Concussion Assessment Tool (SCAT) routinely. Fifty-eight percent would prefer to have a screening tool integrated into their patient management software. Most reported using appropriate management strategies for patients with concussion and recognised the potential benefit of relative cognitive and physical rest. There was low utilisation of referral pathways to allied health practitioners and specialist concussion services. Half (53%) felt confident in managing a patient with SRC and 46% felt comfortable managing return-to-sport. CONCLUSION: Primary care doctors have good knowledge of SRC but are not as confident managing return-to-sport. Further education opportunities were identified. Development of concussion tools adapted for use in primary care, integrated with patient management software and that support pathways to optimise patient recovery are recommended.
Assuntos
Traumatismos em Atletas , Concussão Encefálica , Esportes , Traumatismos em Atletas/diagnóstico , Traumatismos em Atletas/terapia , Concussão Encefálica/diagnóstico , Concussão Encefálica/terapia , Humanos , Nova Zelândia , Atenção Primária à SaúdeRESUMO
Hartnup disorder, an autosomal recessive defect named after an English family described in 1956 (ref. 1), results from impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra (rashes), cerebellar ataxia and psychosis. Using homozygosity mapping in the original family in whom Hartnup disorder was discovered, we confirmed that the critical region for one causative gene was located on chromosome 5p15 (ref. 3). This region is homologous to the area of mouse chromosome 13 that encodes the sodium-dependent amino acid transporter B(0)AT1 (ref. 4). We isolated the human homolog of B(0)AT1, called SLC6A19, and determined its size and molecular organization. We then identified mutations in SLC6A19 in members of the original family in whom Hartnup disorder was discovered and of three Japanese families. The protein product of SLC6A19, the Hartnup transporter, is expressed primarily in intestine and renal proximal tubule and functions as a neutral amino acid transporter.
Assuntos
Doença de Hartnup/genética , Mutação , Sequência de Aminoácidos , Sistemas de Transporte de Aminoácidos Neutros/genética , Animais , Sequência de Bases , Mapeamento Cromossômico , Humanos , Rim/metabolismo , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Dados de Sequência Molecular , LinhagemRESUMO
BACKGROUND: Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13. CASE PRESENTATION: We present the case of a 12 year-old boy with classic systemic features of triple-A syndrome and several prominent ophthalmic features, including: accommodative spasm, dry eye, superficial punctate keratopathy, and pupillary hypersensitivity to dilute pilocarpine. MRI showed small lacrimal glands bilaterally. DNA sequencing of PCR-amplified fragments from the 16 exons of the AAAS gene revealed compound heterozygosity for a new, out-of-frame 5-bp deletion in exon 15, c1368-1372delGCTCA, and a previously-described nonsense mutation in exon 9, c938C>T, R286X. CONCLUSIONS: In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction.
Assuntos
Insuficiência Adrenal/genética , Doenças do Sistema Nervoso Autônomo/genética , Síndromes do Olho Seco/genética , Acalasia Esofágica/genética , Mutação , Transtornos da Motilidade Ocular/genética , Proteínas/genética , Acomodação Ocular , Insuficiência Adrenal/diagnóstico , Hormônio Adrenocorticotrópico/sangue , Doenças do Sistema Nervoso Autônomo/diagnóstico , Criança , Síndromes do Olho Seco/diagnóstico , Acalasia Esofágica/diagnóstico , Esotropia/diagnóstico , Esotropia/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Proteínas do Tecido Nervoso , Complexo de Proteínas Formadoras de Poros Nucleares , Transtornos da Motilidade Ocular/diagnóstico , Reação em Cadeia da Polimerase , Distúrbios Pupilares/diagnóstico , Distúrbios Pupilares/genética , SíndromeRESUMO
Isolated renal glucosuria results from mutations in SGLT2, which codes for an active transporter specific for d-glucose and expressed in the luminal membrane of the renal proximal tubule. In affected individuals, glucosuria leads to pursuit of hyperglycemia to exclude defects in glucose metabolism, and to investigation of renal proximal tubular function to exclude renal Fanconi syndrome. Here we present clinical and molecular data regarding a 19-year-old woman with isolated glucosuria. She was compound heterozygous for two SGLT2 mutations, i.e., a new missense mutation, T200K, and a known missense mutation, N654S.