Infant Alstrom syndrome diagnosed by a new gene mutation: a case report.

Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole-exome sequencing. A 2-month-old male infant was admitted to Sichuan Provincial Maternity and Child Health Care Hospital on 30 May 2019 after "coughing for half a day and dyspnea for 2 hours". He was diagnosed with severe pneumonia, acute congestive heart failure, Grade III cardiac function, acute respiratory failure, and myocarditis. After treatment, he was discharged with a prescription for oral medication. After a 4-month follow-up, the patient's left ventricle exhibited spherical enlargement and a decrease in left ventricular function. The infant's whole-exome sequencing results revealed compound heterozygous mutations in the ALMS1 gene: c.2179dup (p. Y727Lfs*12), a frameshift mutation, that was heterozygous and originated from the mother, while c.11140C>T (p. Q3714*) was a heterozygous nonsense mutation that originated from the father. Both mutations are classified as "category 1-pathogenic mutations" according to the American College of Medical Genetics and Genomics (ACMG) assessment. A novel ALMS1 mutation was identified in this case report, highlighting the importance of genetic testing for the early diagnosis of Alstrom syndrome.

What travel scenarios are the opportunities of car sharing?

In face of high-investment and low-revenue crisis, it is critical for new-born car-sharing companies to focus on niche market. Existing literatures have already discussed the niche market of car sharing based on people's irregular travel demands and scenarios; however, current research findings are still lack of adequate travel data support. Aiming to solve this problem, we develop a travel scenarios mining method that first define land usage types of travel Origin-Destination (OD) locations using spatial clustering analysis of city's Points of interests (POI) data, and then discover the most representative travel scenarios using association rules mining method with car-sharing records data. Applying this approach to the car-sharing service case in Beijing, China, we find that: day-time business trips and evening entertainment trips around the city centre, commuting trips in off-peak time, and short-distance city travel for tourism are three travel scenarios suitable for car sharing's niche in the initial stage of market entering. Furthermore, spatio-temporal consumption profiles and competitive advantages of car sharing in the three travel scenarios are analyzed. Finally, theoretical and managerial implications are discussed. In this study, we address the question of finding niche market and suggest that it is critical for car sharing industry treading through the crisis in the early stage of development.

[Clinical Values of Combined Detection of CRP and D-D for AL Patients Complicated with DIC].

OBJECTIVE: To explore the clinical values of the combined detection of C-reactive protein (CRP) and D-dimer (D-D) for acute leukemia (AL) patients complicated with disseminated intravascular coagulation (DIC). METHODS: Among 52 cases of AL, 20 cases of AL complicated with DIC were selected as AL+DIC group, 32 cases of AL were selected as AL group, 30 healthy volunteers were used as control group; the detected values of CRP and D-D in 3 groups were compared. RESULTS: The CRP and D-D levels in AL+DIC group were significantly higher than those in AL and control groups (P < 0.05); the CRP and D-D levels in AL group were significatly higher than those in control group (P < 0.05). The D-D level and complicated DIC rate in patients with CRP < 10 mg/L were significantly lower than those in patients with CRP 10-100 and >100 mg/L (P <0.05), while the D-D level and complicated DIC rate in patients with 10-100 mg/L were significantly lower than those in patients with CRP > 100 mg/L (P <0.05). After treatment of patients, the CRP and D-D levels in AL and AL+DIC groups were obviously reduced as compared with levels of these 2 groups before treatment (P <0.05); the CRP and D-D levels in AL+DIC after treatment were significantly higher than those in AL group (P <0.05). CONCLUSION: The combined detection of CRP and D-D possesses a higher reference value for diagnosis and differentiation of AL and AL complicated with DIC, thus also has an important role in evaluation of therapeutic efficacy of AL.

[Glucocorticoid combined with ulinastatin in treatment of Kawasaki disease in children: a non-randomized controlled clinical trial].

OBJECTIVE: To investigate the clinical efficacy of glucocorticoid combined with ulinastatin in the treatment of Kawasaki disease (KD) in children. METHODS: A total of 104 children who were admitted and diagnosed with typical KD between January 2011 and December 2013 were assigned to ulinastatin group (methylprednisolone+ulinastatin; n=46) and intravenous immunoglobulin (IVIG) group (n=58) according to the severity of KD and the willingness of their parents. Observations for the two groups were performed to compare the changes in coronary artery diameter before and at 1 week, 3 months, and 6 months after treatment, fever clearance time, retreatment condition, changes in white blood cells (WBC), platelets (PLT), hemoglobin (HB), C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR) at 1 week and 3 weeks after treatment, and total in-hospital cost. RESYLTS: There was no significant difference in the coronary artery diameter between the two groups before or at 1 week, 3 months or 6 months after treatment (P>0.05). All the patients (100%) in the ulinastatin group vs 83% in the IVIG group had a normal body temperature after 48 hours of treatment (P<0.01). Two patients (4%) in the ulinastatin group and 10 patients (17%) in the IVIG group received retreatment. Significant differences were observed in ESR, WBC, and HB between them (P<0.01). The total in-hospital cost in the ulinastatin group was significantly lower than that in the IVIG group (P<0.01). CONCLUSIONS: For children with KD, methylprednisolone combined with ulinastatin does not increase the risk of coronary artery aneurysm, decreases in-hospital costs, is superior in controlling laboratory markers and shortening the duration of fever during the acute phase compared with the IVIG therapy.

Resolution properties of transmission-mode exponential-doping Ga0.37Al0.63As photocathodes.

Using the modulation transfer function obtained by establishing and solving the two-dimensional continuity equation, we have calculated and comparatively analyzed the resolution characteristics of transmission-mode exponential-doping and uniform-doping Ga0.37Al0.63As photocathodes. The calculations show that compared with a uniform-doping Ga0.37Al0.63As photocathode, the exponential-doping structure can significantly improve not only the resolution, but also the quantum efficiency of the photocathode. This improvement is different from the approach for high resolution by reducing the emission layer thickness Te and electron diffusion length LD, or by increasing the recombination velocity of the back-interface, SV, which results in low quantum efficiency. Furthermore, the improvement in resolution and quantum efficiency for the transmission-mode exponential-doping Ga0.37Al0.63As photocathodes is the result of the effect of the built-in electric field on electron transport and lateral diffusion.