Megaloblastic anaemia, diabetes and deafness in a 2-year-old child

Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or, rarely, congenital disorders of vitamin B12 metabolism. We present a 2-year-old girl with megaloblastic anaemia and insulin-dependent diabetes mellitus, both of which proved responsive to pharmacological doses of thiamine. She was also found to have sensorineural hearing loss. Also known as Rogers\' syndrome, thiamine-responsive megaloblastic anaemia is the result of inactivating mutations in a gene encoding a thiamine transporter. A clinical diagnosis is supported by characteristic bone marrow findings and can be confirmed by demonstrating apoptosis in skin fibroblasts cultured in thiamine-depleted medium. Where available, DNA sequencing is definitive. There is rapid reticulocytosis after thiamine administration. We recommend a trial of therapy for megaloblastic anaemia not responding to folate and vitamin B12, especially in a deaf and/or diabetic child.Journal of Endocrinology, Metabolism and Diabetes of South Africa Vol. 10(2) 2005: 62-6

Megaloblastic anaemia, diabetes and deafness in a two-year old child

Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or, rarely, congenital disorders of vitamin B12 metabolism. We present a 2-year-old girl with megaloblastic anaemia and insulin-dependent diabetes mellitus, both of which proved responsive to pharmacological doses of thiamine. She was also found to have sensorineural hearing loss. Also known as Rogers’ syndrome, thiamine-responsive megaloblastic anaemia is the result of inactivating mutations in a gene encoding a thiamine transporter. A clinical diagnosis is supported by characteristic bone marrow findings and can be confirmed by demonstrating apoptosis in skin fibroblasts cultured in thiamine-depleted medium. Where available, DNA sequencing is definitive. There is rapid reticulocytosis after thiamine administration. We recommend a trial of therapy for megaloblastic anaemia not responding to folate and vitamin B12, especially in a deaf and/or diabetic child

Megaloblastic anaemia, diabetes and deafness in a 2-year old child

Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or, rarely, congenital disorders of vitamin B12 metabolism. We present a 2-year-old girl with megaloblastic anaemia and insulin-dependent diabetes mellitus, both of which proved responsive to pharmacological doses of thiamine. She was also found to have sensorineural hearing loss. Also known as Rogers’ syndrome, thiamine-responsive megaloblastic anaemia is the result of inactivating mutations in a gene encoding a thiamine transporter. A clinical diagnosis is supported by characteristic bone marrow findings and can be confirmed by demonstrating apoptosis in skin fibroblasts cultured in thiamine-depleted medium. Where available, DNA sequencing is definitive. There is rapid reticulocytosis after thiamine administration. We recommend a trial of therapy for megaloblastic anaemia not responding to folate and vitamin B12, especially in a deaf and/or diabetic child

Applications of SuDS Techniques in Harvesting Stormwater for Landscape Irrigation Purposes:Issues and Considerations

While urbanization and increasing population has put much pressure on natural drainage channels and resulted in increase in flooding, there is increased pressure on available water resources due to climate change, reduction in frequency of rainfall events and drought. The emergence of a sustainable drainage system (SuDS), also known as best management practice (BMP) and low impact development (LID), has changed the management strategy of drainage from conventional to sustainable. SuDS techniques seek to deliver the three cardinal paradigms of sustainable drainage: quantity, quality and amenity and as such, they can offer an additional benefit for applications such as landscape irrigation. Most SuDS techniques have the potential for water storage with minimal or no modifications required. This chapter, while covering the capabilities of SuDS systems, explores SuDS devices such as pervious pavements equipped with excess storage capacity, cisterns and tanks harvesting roofwater, infiltration systems aimed at supporting the growth of urban plants and green roofs with the potential to store water in order to maintain water demanding planting scheme even during dry periods. It also covers systems where SuDS is the main driver to device installation and address issues and considerations surrounding applications of such systems in water harvesting for irrigation