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Hydrophobic chitosan aerogels were prepared using chitosan as a matrix and 2,6-dimethyl-5-heptenal as a cross-linking modifier to graft n-octadecanethiol and were characterized by scanning electron microscopy (SEM), Fourier transform infrared (FTIR) spectroscopy, and X-ray photoelectron spectroscopy (XPS). The results showed that the surface of the hydrophobic chitosan aerogel had a three-dimensional porous structure. 2,6-Dimethyl-5-heptenal was successfully grafted via the Schiff base reaction. The proportion of elemental sulfur was 1.17% in the aerogel. In the surface contact angle test, the oil droplet contact angle was 0°, and the water droplet contact angle was 126°. The chitosan aerogel exhibited good hydrophobic properties. The loading of fat-soluble curcumin in the aerogel reached the maximum value of 70.5 mg/g after 40 min, and the optimal loading temperature was 27 ℃. The hydrophobic chitosan aerogel had a good sustained-release performance, and the sustained-release rate of curcumin in simulated intestinal fluid was up to 89.6%.

Objective: To analyze the clinical characteristics and examination results of a child with Stankiewicz-Isidor syndrome (STISS), and to provide reference for the diagnosis and treatment of special types of short stature. Methods: A 4-year-old boy with “4 years of developmental delay with craniofacial abnomality and ophthalmological malformation” was recruited,and detailed medical history were collected. Physical examination, laboratory detection [growth hormone stimulation test, insulin-like growth factor 1( IGF-1), thyroid function and other tests] and imaging examinations were performed. Whole-exome sequencing(WES) was used to detect suspicious mutation sites in children and their parents with se-cond-generation target region capture high-throughput sequencing technology, and the findings were verified by Sanger sequencing. The phenotypes and genotype of the STISS children were analyzed in combination with cases reported in literature reported in PubMed, China National Knowledge Internet(CNKI) and WANFANG DATA. Results: The child presented growth retardation, visual impairment, low ear position, mandibular recession, and special facial features of micrognathia. WES revealed a novel heterozygous frameshift variant c.1118delinsCC:p.Ile373ThrfsTer15 in the PSMD12 gene. According to ACMG guidelines, this was a pathogenic variant, which led to STISS.A total of 46 patients with STISS reported pre-viously,and thus there were 47 cases to be analyzed. It indicated that 89.4%(42/47) had growth and development disorders, 85.1%（40/47） had facial deformities, 70.2%（33/47） had intellectual disabilities, while brain imaging abnormalities and skin manifestations were rare.In 47 patients, 13 cases had PSMD12 gene deletion and 34 cases carried single base site mutations in PSMD12 gene. Conclusions: The STISS reported in this article is caused by a novel variation in PSMD12 gene. The child has common clinical phenotypes such as growth and development disorders and facial deformities, but the clinical phenotypes in patients with different genotypes are heterogeneous.

Objective: To report the clinical features, gene detection results and treatment results of two patients with familial male limited precocious puberty(FMPP). Methods: Detailed medical history collection and physical examination were carried out in 2 FMPP patients. LHRH challenge test, sex hormone, adrenal cortical hormone and other tests and relevant imaging examinations were performed. At the same time, peripheral blood of related family members was collected for gene detection, and relevant literature was retrieved in the Chinese database and PubMed database for comprehensive discussion. Results: The initial diagnosis age of the two patients was 6 years and 1 month (case 1) and 3 years and 7 months (case 2), respectively. The symptoms were penis and testis enlargement, accelerated growth, and advanced bone age. Case 2 was accompanied by aggressive behavior. Laboratory examination indicated that the peak value of luteinizing hormone was 7.28 mIU/mL and 4.96 mIU/mL respectively, and the basal testosterone level rose to 2.49 ng/mL and 3.58 ng/mL, while no abnormality was found in imaging examination. According to the medical history and various examination results of 2 patients, central precocious puberty was clinically diagnosed. Gene testing showed that there were heterozygous variations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene boys including c.1756TCTdel (p.Ser586del) variation and c.1723A>C (p.Ile575Leu) variation were identified in case 1 and case 2). It revealed that genetic variation in case 1 resulted from his father, while in case 2 came from his mother. According to the guidelines of The American College of Medical Genetics and Genomics(ACMG), genovariation of LHCGR gene was assessed as possible pathogenic variation, so it was clear that central precocious puberty was caused by LHCGR gene mutation. Conclusions: Two male FMPP caused by LHCGR genetic variation are reported in this paper, and c.1756TCTdel(p.Ser586del) in case 1 which is first reported both in demastic and aboard. For boys with central precocious onseting in low age or with poor treatment effect, test on LHCGR genetic variation may be performed.

Objective: To analyze a case of Lamb-Shaffer syndrome(LAMSHF) with short stature and delayed language and motor development as the main manifestation,and summerize data of the disease in data bank for improving the understanding of this disease. Methods: A male child aged 9 year and 3 months with severe short stature and delayed language and motor development admitted to our hospital was analyzed. Their clinical data were collected, and the genomic DNA was extracted from whole blood of the children and their parents for whole exome sequencing and DNA Sanger sequencing verification. Meanwhile, relevant literature was reviewed to analyze the pathogenesis, clinical characteri-stics, diagnosis and therapy and prognosis of LAMSHF. Results: The height of the boy was 108.7 cm [-4.82 standard deviation (SD)], weight was 17.1 kg (