that equipping Al negative electrode with decent positive electrodes, operable separator and excellent electrolyte to achieve transformation reversibly is an issue.Al-based batteries have been researched for more than 160 years, [20] including Al-air batteries and rechargeable aluminum batteries (RABs). The RABs can be divided into aqueous RABs and nonaqueous RABs according to the type of the electrolyte. Considering the low cyclic stability and inferior performance of the Al-air batteries [21] and the narrow potential window of the aqueous RABs [22][23] caused by the decomposition voltage of water (1.23 V), the above mentioned two systems aren't discussed in this paper. Security and the low cost of nonaqueous RABs are regarded as potential energy storage devices. The first functional RAB with Al as the negative electrode was reported in 2011, which exhibited an initial capacity of 305 mA h g −1 . But there was only ≈0.55 V of discharging voltage plateau. [24] In 2015, Sun et al. adopted carbon paper as the positive electrode in RABs creatively, which resulted in an improved average voltage plateau of 1.8 V, the potential application of RABs with prospective energy density aroused the interests of scholars and merchants. [25] In 2015, Lin et al. [26] assembled RABs with Al foil as the negative electrode, 3D graphitic foam as the positive electrode, AlCl 3 /[EMIm]Cl as the electrolyte. The RABs charged and discharged more than 7500 cycles at 4 A g −1 without capacity decay. Since then, many researchers have been turning their eyes to RABs. As can be seen in Figure 2, the positive electrode materials and electrolytes have been devoted increasing attentions year by year and the overall performance of RABs could be further improved by exploring new positive electrode materials and electrolytes. [27] RABs have been achieved great accomplishments after continuous investment. However, some issues are hampering the development of RABs. For instance, the blurry mechanism of RABs, the inferior energy density of the positive electrodes, and the difficulties brought up by corrosion of electrolytes. [28] In addition, the high cost of separators and electrolytes are challenges for commercialization. In this work, the developments of RABs are reviewed, covering exploration and characterization of the mechanism, design criteria, and research status of the components (positive electrodes, electrolytes, negative electrodes, separators, and current collectors) of RABs. Remarkably, the overall performance (energy density, cyclic stability, power density, security, ecofriendliness, and flexibility) of RABs are evaluated from the view of devices. The outlook for boosting the development of RABs is proposed subsequently. It is important to research new energy storage technology for substituting the deficiencies of current energy storage devices, i.e., the poor energy density of lead-acid batteries, the high cost of lithium-ion batteries, etc. Rechargeable aluminum batteries (RABs) are regarded as one of the most promising storage devic...
Background:To summarize the relationship between different MMUT gene mutations and the response to vitamin B12 in MMA. Methods:This was a retrospective study of patients diagnosed with mut-type MMA. All patients with mut-type MMA were tested for responsiveness to vitamin B12.Results: There were 81, 27, and 158 patients in the completely responsive, partially responsive, and nonresponsive groups, respectively, and the proportions of symptom occurrence were 30/81 (37.0%), 21/27 (77.8%), and 131/158 (82.9%), respectively (p < .001). The median levels of posttreatment propionyl carnitine (C3), C3/acetyl carnitine (C2) ratio in the blood, and methylmalonic acid in the urine were all lower than pretreatment, and the median level of C3/C2 ratio in the completely responsive group was within the normal range. In 266 patients, 144 different mutations in the MMUT gene were identified. Patients with the
Background Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.A555T), is considered to be a rare type, which is seen more frequently in Asian than other populations. So far, little is known about the clinical features of patients carrying this mutation. In the present study, we aimed to define the clinical and biochemical features of the patients with this genotype. Methods Among 328 mut type methylmalonic acidemia patients from multiple hospitals in China, we collected 30 compound heterozygous patients sharing the mutation c.1663G > A (p.A555T) in the MMUT gene. Their clinical characteristics and biochemical index were described in detail and compared with methylmalonic acidemia patients without this variant. Results Most of these patients were diagnosed via newborn screening (26/30), treated in a timely manner, and kept healthy (24/30). Disease onset occurred in 7 patients. Developmental delay or intellectual impairment occurred in 4 patients. 100% of these patients (29/29) were responsive to Vitamin B12 administration. The blood propionylcarnitine, blood propionylcarnitine/acetylcarnitine ratio, urinary methylmalonic acid, urinary methylcitric acid before and after treatment in c.1663G > A (p.A555T) carrying patients were much lower than those in non-c.1663G > A (p.A555T) carrying patients. Conclusion Compared to patients with other mutations in the MMUT gene, patients with the c.1663G > A (p.A555T) mutation showed later onset, milder clinical phenotype, lighter biochemical abnormalities, better vitamin B12 responsiveness, lower morbidity, easier metabolic control, and thereby better prognosis. Newborn screening project plays an important role in early diagnosis, treatment, and prognosis of these patients.
Background: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMGCS2D) is a rare autosomal recessive metabolic disorder caused by mutations of the HMGCS2 gene. To date, no more than 60 patients have been reported throughout the world.Purpose: To analyze the clinical, biochemical, molecular, and outcome features of HMGCS2D in a case series of 10 new Chinese patients.Methods: This retrospective study includes 10 Chinese patients diagnosed with HMGCS2D. We collected and analyzed clinical data for all patients. We also reviewed clinical data for 39 cases that had been reported previously.Results: All of our patients had experienced their first metabolic crisis before 12 months old. The most common clinical manifestations were anorexia, dyspnea, and disturbance of consciousness (10/10), followed by vomiting (8/10), fever (7/10), cough (4/10), diarrhea, and seizures (3/10). Each patient (10/10) had a different degree of hepatomegaly and increased aminotransferase, severe metabolic acidosis, and hypofibrinogenemia. 9 patients presented with severe hypoglycemia and weak positives on qualitative tests of urinary ketone body. Patient 3 was the only one without hypoglycemia. Five patients had hypocalcemia, five patients had hyperammonemia, four patients had hyperuricemia, and three had hypertriglyceridemia. During the metabolic acidosis episode, we observed high dicarboxylic acid values in urine, and the elevated ratio of blood acetylcarnitine to free carnitine may have been an additional biochemical signature. However, all returned to normal during the interictal interval. Molecular analysis identified 15 variants in the HMGCS2 gene, of which 10 were novel (c.220G>A/p.E74K, c.407A>G/p.D136G, c.422T>A/p.V141D, c.719A>C/p.D240A, c.821G>A/p.R274H, c.39dupA/p.L14Tfs*59, c.1394delA/p.N465Tfs*10, c.788delT/p.L263Cfs*36, c.717T>G/p.Y239*, and c.1017-2A>G). Combining these with previous cases, the known mutation c.1201G>T/p.E401* has been found in 6/40 (15.0%) of mutated alleles in 21 Chinese patients from 20 families, while none have been found in other populations. We found that patients with biallelic truncation mutation appeared to show a more severe clinical condition through a literature review.Conclusion: This study analyzed the phenotypic and genetic features of HMGCS2D in a Chinese case series. We also expanded the HMGCS2 mutational spectrum with 10 novel variants. The c.1201G>T/p.E401* mutation was the most frequent, representing 15.0% of the mutated alleles in reported unrelated Chinese patients, and thus, it may be a hot spot mutation.
Background: Methylmalonic acidemia is an inherited organic acid metabolic disease. it involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G>A (p.A555T), is considered to be of an extremely rare type. So far, little is known about the clinical features of patients carrying this mutation. In the present study, we aimed to define the clinical and biochemical features of the patients with this genotype. Methods: Among 328 mut type methylmalonic acidemia patients from multiple hospitals in China, we collected 30 compound heterozygous patients sharing the mutation c.1663G>A (p.A555T) in the MMUT gene. Their clinical characteristics and biochemical index were described in detail and compared with methylmalonic acidemia patients without this variant. Results: Most of these patients were diagnosed via newborn screening (26/30), treated in a timely manner, and kept healthy (24/30). Disease onset occurred in 7 patients. Developmental delay or intellectual impairment occurred in 4 patients. Vitamin B12 is responsive in 100% of these patients (29/29). The blood propionylcarnitine, blood propionylcarnitine/acetylcarnitine ratio, urinary methylmalonic acid, urinary methylcitric acid before and after treatment in c.1663G>A (p.A555T) carrying patients were much lower than those in non-c.1663G>A (p.A555T) carrying patients. Conclusion: Compared to patients with other mutations in the MMUT gene, patients with the c.1663G>A (p.A555T) mutation showed later onset, milder clinical phenotype, lighter biochemical abnormalities, better vitamin B12 responsiveness, lower morbidity, easier metabolic control, and thereby better prognosis. Newborn screening project plays an important role in early diagnosis, treatment, and prognosis of these patients.
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