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BACKGROUND: Alstrom syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive inheritance of the ALMS1 gene. It manifests as multisystem dysfunction, displaying unique clinical signs and symptoms and various severity, which may lead to delayed prognosis or misdiagnosis in medical practice. Although almost 300 pathogenic variants have been reported, there are some variant sites that have not been recognized yet. CASE DESCRIPTION: We report a case of a 14-year-old boy with manifestations, including binocular vision loss, acanthosis nigricans, type 2 diabetes, insulin resistance, elevated transaminase, hepatic fibrosis, and proteinuria. Compound heterozygous variants in the ALMS1 gene have been discovered by whole exon sequencing. One of his variant sites was C. 8158C>T, which was from his father. And the other variant site was C. 3575C>A, which was from his mother. To the great of our knowledge, this site has not been reported before. Both of the variants make the synthesis of the peptide chain terminated in advance and an incomplete polypeptide chain is formed. CONCLUSIONS: The clinical presentations of ALMS are complicated and varied. Although early diagnosis can be made according to typical clinical symptoms, whole exon sequencing is necessary for the diagnosis of ALMS, as indicated by our study.

To ensure the correct interpretation of the results of quantitative real-time reverse transcription-polymerase chain reaction (qRT-PCR) from ovarian tissue cryopreserved by vitrification, it is critical to normalize expression levels to a reference gene with stable messenger RNA (mRNA) expression in the vitrified/warmed ovarian tissue. The aim of this work was to identify suitable reference genes for qRT-PCR analysis during ovarian cryopreservation by vitrification.GeNorm, NormFinder, comparative Delta-CT, and BestKeeper were used to analyze the expression and stability of the 14 reference genes GAPDH, ABL1, ACTB, CDKN1A, GPER, GUSB, HPRT1, HSP90AB1, IPO8, PPIA, RPL4, RPL30, TBP, and UPAR.Our results indicated that ACTB and RPL4 were relatively stable reference genes in vitrified/warmed ovaries.

Background The novel water-soluble inclusion complex of Brucea javanica oil (BJO) by β-cyclodextrin polymers (CDP) was prepared by saturated aqueous method and characterized by SEM, FT-IR and 1H NMR. Compared with BJO, the aqueous solubility of BJO-CDP (77.76%) greatly enhanced due to the water-soluble CDP host. Results In the acute toxicity test, the value of LD50 of BJO-CDP was 11.94 g/kg, suggesting the lower toxicity of BJO-CDP. Moreover, the pharmacodynamics of BJO-CDP was investigated by evaluating its inhibition effects on human hepatoma SMMC-7721 cells and mice transplantable colon cancer CT- 26 cells. Conclusion It has been revealed that BJO-CDP significantly decreased the toxicity of BJO and enhanced its anti-tumor activity. In conclusion, BJO-CDP could be a new and improved clinical formulation of BJO with higher water solubility, lower toxicity and enhanced anti-tumor activity.

In this paper, the symbol error rate of distributed MIMO antenna systems in a linear cell is analyzed. Firstly, a composite channel model which includes the fast fading, shadow fading and path loss is established. Then, a closed form expression of symbol error rate for point-to-point downlink MIMO communication system under higher signal-to-noise ratio (SNR) is deduced. Next, by considering the nonuniform distribution of a mobile station, the closed form expression of average symbol error rate in the whole cell is further derived. Numerical results show that the theoretical expressions derived in this paper can match the actual system performance well.

The essence of design is to make the world better, the same to food design. Through the definition and the popular trend of food design, article focuses on the people’s emotional interaction with food visual design and sustainable design of food. When the "food" which is basic activities of human beings combine with art, it shows different design charm, at the same time, also called on people to reduce food waste.

An electrochemical sensor technology, based on stripping potentiometry at a 100-{mu}m gold fiber electrode, has been developed for remote detection of trace metal contaminants. The new probe circumvents technical difficulties, including the need for mercury surfaces, removal of oxygen, or forced convection, that previously prevented the adaptation of stripping analysis to in situ remote operations. The gold microelectrode, connected to a long communication cable, allows convenient measurements of trace copper, mercury, lead, or selenium at 3-4-min intervals and instrument/sample distances up to 32 m. The remarkable sensitivity of the probe is coupled with multielement capability, high stability, and simplicity. Field demonstrations involving both downhole ground-water monitoring and in situ shipboard seawater analysis were successful. The new probe should be extremely useful for the characterization of priority metal pollutants in hazardous waste sites and for the immediate detection of sudden metal contaminations. 18 refs., 6 figs.

Small-volume measurements of lead and cadmium have been accomplished using a mercury-coated nanoband electrode. The band electrodes are fabricated from ultrathin carbonized polyacrylonitrile films. The coupling of the inherent sensitivity of stripping analysis, with submicroliter sample volumes and enhanced plating efficiency (due to enhanced diffusional flux) results in remarkably low detection limits of 100 femtograms (5 × 10−16 mole) lead. To our knowledge, this detection limit is significantly lower than previously reported values for electrochemical stripping work. Air-saturated quiescent sample droplets can thus be assayed by the square-wave or potentiometric stripping modes. Variables influencing the stripping response are explored and the stripping performance is characterized. Applicability to direct measurement of lead in microliter blood samples is illustrated.