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Primary hypertrophic osteoarthropathy(PHO) is a rare disease also known as pachydermoperiostosis. We reported a painless case whose diagnosis was confirmed by genetic test. A 24-year-old male presented a series of symptoms that first began at 14. He suffered from progressive clubbed-fingers accompanied by swelling of the wrist and ankle joints. Facial skin concentric thickening and alar nose broadening appeared simultaneously and increased progressively. He was also prone to acne and hyperhidrosis. X-rays showed thickening of the metacarpal and phalangeal bones, as well as symmetrical periosteal ossification of both the tibia and fibula. Clinical diagnosis of PHO is difficult because of the variable features. With acromegaly excluded, the diagnosis was confirmed by a genetic test. Whole exome sequencing revealed a heterozygous SLCO2A1 c.611C > T(p.Ser204Lue) and SLCO2A1 c.1602C > A(p.Asn534Lys) mutation from each parent. It suggests that primary hypertrophic osteoarthropathy should be considered for young limb hypertrophic patients especially when periosteal thickening signs were showed in X-ray. A confirmatory diagnosis can be made through the genetic test.

PIK3CA-related overgrowth spectrum (PROS) is a rare condition characterized by disproportionate overgrowth of head, neck, trunk, or extremity, caused by PIK3CA gene mutation. This condition has negative impact on the physical appearance, functions, and psychosocial well-being of the patients. The condition causes social and economic burden, too. The gold standard for the diagnosis of PROS is the genetic testing using somatic tissue, but detecting low-level mosaic mutations of PIK3CA gene remains a challenge. There is no specific treatment now. Supportive management including surgery and other interventions have limited effects in improving cosmetic outcome and functions. Multidisciplinary collaboration is the key to the success of managing PROS. Targeted gene therapy is promising in improving the outcome for patients with severe PROS. Patients diagnosed with negative genetics test by the clinical measures are often ineligible for novel gene therapy. This article reviews the clinical manifestations, diagnosis, and treatments of PROS, aiming to improve the current understanding of this rare condition.

Nail-patella syndrome (NPS) is a hereditary rare disease that can involve fingernail, patella, elbow, and iliac bones. In this article, we report a case of a girl-9 and 1 quarter years old who had asthmatic contractures in both elbows, thumbnail hypoplasia in both hands, patellar dislocation of both knees, iliac angle protrusion of both sides, and scoliosis. Whole exome sequencing suggests the presence of a LMX1B NM_002316.4:c.706G > C(p.Ala236Pro) mutation. NPS is an autosomal dominant disease associated with gene mutation of LMX1B, which can be diagnosed by combining the patient′s clinical manifestations and genetic results. The treatment now only targets on symptoms, relieving the localized severe lesion but not cure right now.

Proteus syndrome is a rare congenital hamartomatous syndrome characterized by the asymmetric and disproportionate overgrowth of limbs, emergence of connective tissue nevi, epidermal nevi, ysregulated adipose tissue, and vascular malformations. The Proteus syndrome is caused by mosaicism of somatic activating mutation in the AKT1 gene which locates at chromosome 14q32.3. This syndrome is extremely rare, making it difficult to diagnose. The most commonly used diagnostic criteria are too complicated to be used in clinical practice. Surgery can partially alleviate the clinical symptoms of overgrowth, but it can't inhibit the progression of the disease. This article summarizes the diagnostic criteria, treatment principles, and perioperative managements for Proteus syndrome in the world. The article proposes the highly suspected morphological manifestations of Proteus syndrome was based on clinical experiences of the author.The article emphasizes using genetic detection of pathological tissue as the gold standard for diagnosis, and suggests targeted therapy as the optimal treatment for Proteus syndrome.

【Objective】The study was carried out to study the effects of nitrogen application rate and transplanting density on dry matter production and nitrogen use efficiency of double cropping hybrid rice.【Method】Zhuliangyou 819 was used as early rice material and Taiyou 398 was used as late rice material. Three nitrogen application levels (N1, N2, N3 at 0, 120, 150 kg/hm2 for early rice and N1, N2, N3 at 0, 150 and 225 kg/hm2 for late rice, respectively) and three transplanting densities(M1, M2, M3 at 13.3 cm×16.7 cm, 13.3 cm×20.0 cm, 16.7 cm×20.0 cm for early rice and M1, M2, M3 at 16.7 cm×20 cm, 16.7 cm×23.3 cm, 16.7cm×26.7cm for late rice, respectively).【Result】Increasing nitrogen fertilizer can significantly improve the accumulation of dry matter quality of rice, and the effect of transplanting density on dry matter quality is small. The dry matter quality of early and late rice is the highest in N3M1 treatment at maturity, in which the dry matter quality of early rice is 8.81%- 110.24% higher than that of other treatments, and that of late rice is 9.12%-117.12% higher than that of other treatments. The nitrogen uptake and utilization efficiency of early rice N2M2 treatment was up to 60.73%, and that of late rice N2M3 treatment was up to 63.20%. Increasing nitrogen fertilizer could not significantly improve the contribution rate to yield, and had little effect on the harvest index of late rice; Increasing nitrogen fertilizer application in early and late rice could significantly increase the total nitrogen accumulation of rice, with an increase of 67.50%-77.03% in early rice and 73.18%-115.12% in late rice; Each fertilization treatment of early rice had little effect on the agronomic and physiological utilization efficiency of nitrogen fertilizer. The increase of agronomic and physiological utilization efficiency of nitrogen reduction treatment of late rice was 52.66% and 59.00%; Nitrogen reduction in early and late rice can improve the partial fertilizer productivity of rice, and the growth rates of early and late rice are 15.54% and 48.58% respectively. The contribution rates of transplanting density to the yield of early and late rice were 18.52%-47.22% and 23.42%-35.42% higher in M3 treatment than in M1 and M2 treatment, respectively; It had little effect on total nitrogen accumulation, harvest index, agronomic utilization rate and partial fertilizer productivity; Low planting density can improve the physiological utilization rate of early rice, with an increase of 52.19%-144.14%, but it has little effect on the physiological utilization rate of late rice.【Conclusion】Therefore, N2M2 and N3M3 treatment can maintain high nitrogen use efficiency and dry matter accumulation of double cropping hybrid rice, and N2M2 treatment can save fertilizer and maintain high nitrogen use ability.

Soil salinization has become an important factor limiting crop yield and quality, affecting crop yields worldwide. As an important fruit crop, the harm of salt stress and the lack of salt tolerant rootstocks have become important issues threatening the healthy and sustainable development of the modern apple industry. Therefore, studying the response and adaptation of apple trees to salt stress is of great practical significance and urgency. In this study, total RNA was extracted from the leaves and roots of Malus zumi (Mats.) Rehd. seedlings were treated with 0, 0.2% and 0.6% NaCl after 0, 4, 8 and 12 days, and RNA-seq libraries were constructed. A total of 575 miRNAs were identified, including 315 known mdm-miRNAs and 260 new miRNAs. In addition, differentially expressed (DE) miRNAs exhibited tissue-specific expression patterns in response to salt stress. At the same time, a data set for deep sequencing of miRNA in Malus zumi (Mats.) Rehd was provided, and bioinformatics methods were used to control the quality of the original data. High quality sequences were obtained, and BLAST software was used to compare the predicted target gene sequences with NR, Swiss Prot, Pfam and other databases to obtain annotation information of salt tolerance related genes. GO analysis shows that miRNAs and target genes related to salt stress are mainly involved in the response to stimuli in biological processes. This will provide theoretical data basis for the utilization of Malus zumi (Mats.) Rehd and favorable support for the breeding of salt tolerant rootstocks. [ABSTRACT FROM AUTHOR]

Ship ballast water can control the roll, trim, and draft of the ship, and thus ensuring the balance and stability of the ship in the course of sailing, and playing a vital role in the safe navigation of ships. The annual discharge of ship ballast water is very large in China. About three to five billion cubic meters of ship ballast water is discharged into offshore or inland waters every year. This water contains plankton, pathogens, and their larvae or spores. If not be handled appropriately, this will have a serious impact on the ecological environment of the discharge waters. Ballast water is usually treated by electrolysis before being discharged. Sodium hypochlorite can be generated, which can kill microorganisms; however, the by-products trihalomethanes (THMs) are cytotoxic and biotoxic. Studies have shown that THMs may cause fetal growth retardation, spontaneous abortion, or death. The concentration of THMs in drinking water is closely related to the risk of bladder cancer death. Hence, it is important to establish a method for the determination of THMs in ship ballast water. The four kinds of THMs are chloroform, dichlorobromomethane, chlorodibromomethane, and tribromomethane. At present, ship ballast water is mostly analyzed by gas chromatography (GC) using an electron capture detector (ECD) or by gas chromatography-mass spectrometry (GC-MS). Given the low boiling point of THMs, headspace injection and purge-and-trap can be used. Gas chromatography-negative chemical ionization-mass spectrometry (GC-NCI-MS), was adopted. NCI is a soft ionization technique that shows special response to compounds bearing electronegative elements or groups. THMs contain electronegative chlorine atoms and bromine atoms. Therefore, NCI is a good choice for their analysis. The samples were processed by the headspace injection technique. The NaCl content in 10 mL sample was optimized in headspace injection. The results showed that 3.0 g NaCl was the most suitable dosage. The analytes were separated on a DB-5MS UI capillary-column (30 m×0.25 mm×1.0 μm). The target compounds were quantified by using the external standard method in selected ion monitoring (SIM) mode. The four THMs were not only well separated but also showed a high response at 0.2 μg/L. The four THMs showed good linear relationships in the range of 0.2-50 μg/L, with correlation coefficients≥0.995. The limits of quantification (LOQs, S/N =10) were 0.1-0.2 μg/L, and the average recoveries of the four THMs were 90.3%-106.8% at the three spike levels of 0.2, 0.5, and 2.0 μg/L. The relative standard deviations were 1.4%-6.2%. The LOQs of the THMs in the GB/T 5750.8-2006 Standard Test Method of Drinking Water Organic Matter Index are 0.3-6.0 μg/L. It can be seen that the LOQs of the THMs are greatly reduced in this study. The proposed method is accurate, stable, and reliable, and it can be used for monitoring the four THMs in ship ballast water. The method was applied for the detection of 36 ship ballast water samples. In all cases, the detection rates of tribromomethane, chlorodibromomethane, dichlorobromomethane, and chloroform were 83.3%, 69.4%, 22.2%, and 19.4%, respectively. The detection values of tribromomethane, chlorodibromomethane, dichlorobromomethane, and chloroform were 34.25-221.5 μg/L, 3.52-41.87 μg/L, 1.52-8.56 μg/L, and 0.02-5.46 μg/L, respectively. Based on the analysis of several ship ballast water samples (electrolytic water), it was concluded that the greater the number of bromine atoms in the THMs, the higher are the detection rate and detection value in ship ballast water. Compared to chloroform, tribromomethane is more harmful to living beings. China has acceded to the International Convention on Ship Ballast Water and Sediment Control and Management. There is an urgent need to establish analysis methods with high sensitivity, good stability, and high accuracy in addition to determining standards and regulations for ship ballast water.