Mutations in the SLC19A2 gene cause thiamine-responsive megaloblastic anemia (TRMA) frequently combined with diabetes mellitus and deafness. Type 2 diabetes mellitus is heritable and a region on ...1q21–q23 encompassing SLC19A2 was linked with the disease in Pima Indians and Caucasians. We therefore investigated this candidate gene in selected diabetic and nondiabetic Pimas and found no variants. We conclude that mutations in SLC19A2 do not contribute to type 2 diabetes in this population.
Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive disorder especially in countries where consanguinity is uncommon. Three main features are characteristic of the ...disease - megaloblastic anemia, early onset deafness, and non-type I diabetes. TRMAS is a Mendelian disorder; a gene SLC19A2 coding high affinity thiamine transporter mediating vitamin B1 uptake through cell membrane has been identified. We present the first patient with TRMAS in Lithuania - a 3-year-old boy born to a non-consanguineous family with a novel homozygous SLC19A2 gene mutation. The patient had insulin dependent diabetes (onset 11 months), respiratory illness (onset 11 months), bilateral profound hearing loss (onset at 7 months, verified at 20 months), refractory anemia (onset 2 years), and decreased vision acuity and photophobia (onset 2.5 years). The psychomotor abilities developed according to age. Phenotypic evaluation did not reveal any dysmorphic features. The clinical diagnosis of TRMAS was suspected and daily supplementation with thiamine 100 mg was started. The condition of the patient markedly improved several days after the initiation of treatment. The results of SLC19A2 gene molecular testing confirmed the clinical diagnosis - novel homozygous c.205G>T, p.(Val69Phe) mutation changing conserved amino acid residue or even interfering the mRNA splicing. Clinical heterogeneity, diverse dynamics, and wide spectrum of symptoms are aggravating factors in the diagnosis. The possibility of treatment demands early recognition of disorder to facilitate the improvement of the patient's condition.
The concept of ‘sustainable urban development’ has been pushed to the forefront of policymaking and politics as the world wakes up to the impacts of climate change and the destructive effects of the ...Anthropocene. Climate change has emerged to be one of the biggest challenges faced by our planet today, threatening both built and natural systems with long-term consequences, which may be irreversible. While there is a vast body of literature on sustainability and sustainable urban development, there is currently limited focus on how to cohesively bring together the vital issues of the planning, development, and management of sustainable cities. Moreover, it has been widely stated that current practices and lifestyles cannot continue if we are to leave a healthy living planet to not only the next generation, but also to the generations beyond. The current global school strikes for climate action (known as Fridays for Future) evidences this. The book advocates the view that the focus needs to rest on ways in which our cities and industries can become green enough to avoid urban ecocide. This book fills a gap in the literature by bringing together issues related to the planning, development, and management of cities and focusing on a triple-bottom-line approach to sustainability.
