Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry.

Objective: To report a case of glycogen storage disease (GSD) type Ia misdiagnosed as multiple acyl-coenzyme a dehydrogenase deficiency (MADD) by mass spectrometry. Methods: A 7 months old boy was admitted to our hospital for elevated transaminase levels lasting more than 1 month. His blood biochemistry showed hypoglycemia, metabolic acidosis, hyperlipidemia, elevated lactate and uric acid, elevated alanine amino transferase (ALT), aspartate amino transaminase (AST) and gamma-glutamyl transferase (GGT). Mass spectrometry analysis of blood and urine showed elevated blood acylcarnitines and dicarboxylic aciduria, indicating multiple acyl-coenzyme A dehydrogenase deficiency. Sanger sequencing of all exons of glucose-6-phosphatase (G6Pase) and electronic transfer flavoprotein dehydrogenase (ETFDH) was performed for the patient and his parents. Results: Coding and flanking sequences of the G6Pase gene detected two heterozygous single base substitutions in the boy. One variant was in exon 1 (c.209G > A), Which was also detected in the father. Another was in exon 5 (c.648G > T), which was detected in the mother. Coding and flanking sequences of the ETFDH gene revealed no pathogenic/likely pathogenic variants in the boy. Conclusion: GSD Ia can manifest elevated blood acyl carnitines and dicarboxylic aciduria which were the typical clinical manifestations of MADD. So the patient with clinical manifestations similar to MADD is in need of differential diagnosis for GSD Ia. Genetic testing is helpful to confirming the diagnosis of inherited metabolic diseases.

Characteristics of Venture Capital Network and Its Correlation with Regional Economy: Evidence from China.

Financial networks have been extensively studied as examples of real world complex networks. In this paper, we establish and study the network of venture capital (VC) firms in China. We compute and analyze the statistical properties of the network, including parameters such as degrees, mean lengths of the shortest paths, clustering coefficient and robustness. We further study the topology of the network and find that it has small-world behavior. A multiple linear regression model is introduced to study the relation between network parameters and major regional economic indices in China. From the result of regression, we find that, economic aggregate (including the total GDP, investment, consumption and net export), upgrade of industrial structure, employment and remuneration of a region are all positively correlated with the degree and the clustering coefficient of the VC sub-network of the region, which suggests that the development of the VC industry has substantial effects on regional economy in China.

Long-term follow-up and correlated factors of vitiligo following autologous epidermal transplantation.

Autologous epidermal transplantation is an easy, safe, and effective option for the treatment of stable vitiligo. To evaluate the long-term outcome and correlated factors, 1 to 5 years of follow-up of 310 vitiligo patients treated with autologous epidermal transplantation was carried out by questionnaires, telephone calls, and clinical examinations. Some correlated factors including time, gender, age, location, Köbner phenomenon, and exposure to narrowband UVB (NB-UVB) have been considered and analyzed. Twenty-four recipient areas with 1266 sheets were observed and classified with 4 degrees (excellent, good, fair, and poor). Among them, 1099 sheets (86.81%) were classified with excellent to fair repigmentation (excellent repigmentation, 815 sheets [64.38%]). We also found hyperpigmentation in 76 patients (24.52%), and hypopigmentation in 66 patients (21.29%) on the transplanted areas. Köbner phenomenon could be observed in 25 patients (8.06%), which implies difficulty for normal repigmentation. Forty-two patients developed new lesions after the operation. The operation usually can get best results within 2 years and on areas with less movement such as the arm and leg. The treatment plus NB-UVB exposure are recommended for getting better repigmentation. Gender and age seem to have no relationship with the effect. After long-term follow-up, we concluded that autologous epidermal transplantation is an effective method for the treatment of vitiligo and the results can be mainly affected by the transplant location.