Positional Isomers of Covalent Organic Frameworks for Indoor Humidity Regulation.

Humidity is one of the most important indicators affecting human health. Here, a pair of covalent organic frameworks (COFs) of positional isomers (p-COF and o-COF) for indoor humidity regulation is reported. Although p-COF and o-COF have the same sql topology and pore size, they exhibit different water adsorption behaviors due to the subtle differences in water adsorption sites. Particularly, o-COF exhibits a steep adsorption isotherm in the range of 45-65% RH with a hysteresis loop, which is perfectly suitable for indoor humidity regulation. In the laboratory experiment, when the humidity of the external environment is 20-75% RH, o-COF can control the humidity of the room in the range of 45-60% RH. o-COF has shown great potential as a dual humidification/dehumidification adsorbent for indoor humidity regulation.

A Highly Stable Ortho-Ketoenamine Covalent Organic Framework with Balanced Hydrophilic and Hydrophobic Sites for Atmospheric Water Harvesting.

Atmospheric moisture is a sustainable clean water source that can solve the shortage of fresh water in arid areas. Herein a 2D covalent organic framework (COF-ok) was reported as a promising porous sorbent for solar-driven atmospheric water harvesting. COF-ok with ortho-ketoenamine linkage was extremely stable in harsh environment, including in boiling water, strong acids and bases. Because of the balanced hydrophilic and hydrophobic sites in channels, COF-ok showed a high water uptake of 0.33 g g-1 at a low relative humidity of 34 % featuring a characteristic S-shaped water sorption isotherm with low regeneration temperature (∼45 °C) and excellent cyclic stability. A laboratory-scale water harvesting system could collect water of 161 g kg-1 under sunlight.

Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination.

Maple syrup urine disease (MSUD) is an autosomal recessive inborn error disorder derived from the accumulation of the branched-chain amino acids (BCAAs) leucine, isoleucine and valine. Either the E1alpha, E1beta or DBT (E2) genes are responsible for this neurometabolic disease. Here, we report the identification and characterization of a novel E2 gene 4.7 kb deletion as a rare nonhomologous recombination of the long interspersed nuclear elements 1 (LINE-1) in intron 10 and the Alu in the 3' UTR of the E2 gene from three classic MSUD patients of the Austronesian aboriginal tribe Paiwan in Taiwan. The E2 gene 4.7 kb deletion accounted for five out of six alleles in the three unrelated Paiwanese MSUD patients, indicating a founder effect. Carrier-frequency study revealed one deleted heterozygote out of 101 normal Paiwanese. As the nine Taiwanese Austronesian aboriginal tribes share a common origin, this E2 4.7 kb deletion may be preserved in some of the other Austronesian aboriginal tribes of Taiwan. This is the first comprehensive genetics study of MSUD in the Austronesian tribal groups as well as in Taiwan.

Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis.

A 22-year-old woman had suffered from several episodes of acute pancreatitis since the age of 11. Other than exercise intolerance since early childhood, her psychomotor development was normal. At age 21, she experienced two episodes of generalized muscle weakness including acute respiratory failure and hepatomegaly. Liver biopsy indicated fatty metamorphosis, and muscle biopsy revealed vacuolar myopathy with lipid accumulation. Biochemical investigations demonstrated elevated serum creatine kinase and elevated 2-hydroxylglutaric, pyruvic, ethylmalonic, hippuric, adipic, and seburic acids in urinary organic acid analysis. These findings confirmed the diagnosis of glutaric aciduria type II. Although acute pancreatitis in glutaric aciduria type II has been reported previously, this is the first reported case of recurrent pancreatitis occurring in glutaric aciduria type II. We treated the patient with l-carnitine and riboflavin. As of the latest follow-up 2.5 years later, the patient has had no further episodes of muscle weakness or pancreatitis. We suggested analyzing urine organic acid when lipid storage myopathy is suspected.

Type I glutaric aciduria: phenotypes and genotypes in 5 Taiwanese children.

We describe the clinical characteristics of 5 Taiwanese children with glutaric aciduria type I treated in a single medical center. Macrocephaly was present in 5 of these patients, psychomotor retardation in 4, and neurological regression in 2. Diagnosis was made prenatally in 1 patient due to an affected sibling. Low lysine/tryptophan formula, carnitine, and vitamin B2 were given to all patients. All patients disliked and could not adhere to the special formula and medications. Four older patients had neurological deficits prior to the start of the regimen. Among them, 1 died of sepsis and malnutrition. Only the prenatally diagnosed child did well at age 22 months. Mutational analysis, performed by polymerase chain reaction and sequencing, revealed an IVS10-2A>C defect in all 5 patients, and 2 siblings were homozygous. In addition, 2 novel mutations were detected. We conclude that GA I might not be as rare in Taiwan as previously thought. IVS10-2A>C is a common mutation in the Taiwanese population, whose genotypes are quite different from those of Caucasians.

Clinical manifestations in children with mitochondrial diseases.

Mitochondrial diseases comprise a group of complex and heterogeneous genetic disorders. Variable clinical features present a major challenge in pediatric diagnoses. From January 1984-June 2009, 69 patients were diagnosed with either syndromic mitochondrial diseases or nonsyndromic mitochondrial diseases. Clinical manifestations, laboratory findings, and histopathologic results differentiating syndromic from nonsyndromic mitochondrial diseases were analyzed by chi(2) test, with cutoff significance at P = 0.05. The commonest clinical manifestation involved central nervous system signs (88.4%). A comparison of central nervous system signs in syndromic vs nonsyndromic mitochondrial diseases revealed significant differences in terms of headache, external ocular motility, and apnea (P < 0.05). A comparison of organ systems revealed a significant difference for signs of the cardiovascular system. Elevated initial blood lactate levels were evident in 40.6% of patients, and 84.8% produced abnormal results after oral glucose challenge. Ragged red fibers were observed in 51.6% of patients. The positive rate of mitochondrial gene mutation was 27.5%. Age and disease were directly related: the younger the age at initial disease onset, the higher the frequency of mortality and morbidity. Notorious variability in the presentation of mitochondrial diseases exists in all pediatric subspecialties. Greater familiarity with those signs will facilitate more accurate diagnoses.

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a metabolic disorder due to dysfunction of electron transfer flavoprotein (ETF) or ETF-ubiquinone oxidoreductase (ETF-QO). Mutations in ETFDH, encoding ETF-QO have been associated with both riboflavin-responsive and non-responsive MADD as well as a myopathic form of CoQ(10) deficiency, although pathomechanisms responsible for these different phenotypes are not well-defined. We performed mutation analysis in four Taiwanese MADD patients. Three novel ETFDH mutations were identified in four patients and all harbored the p.A84T mutation. Muscle CoQ(10) levels and respiratory chain activities measured in two patients were normal. Three patients improved on riboflavin together with carnitine. Our results show that not all MADD patients have CoQ(10) deficiency. Based upon our data, riboflavin and carnitine may be the first-line treatment for MADD.