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Squid belongs to the cephalopod class of mollusks, with short survival time, fast reproduction speed, comprehensive nutrition, high protein content, low-fat content, and low-calorie content. Squid skin accounts for 8% - 13% of squid processing waste, and full utilization of squid skin can prevent resource waste. This article reviewed the nutritional components, peeling methods, extraction methods of collagen and gelatin from squid skin, as well as the preparation methods of squid skin collagen peptides with antioxidant activity, antihypertension, anti-skin aging, anti-tumor activity, and anti-freezing activity. The application of squid skin collagen products in industries such as food, medicine, cosmetics, and cosmeceuticals was also introduced. This article provided a systematic introduction to the research progress in the processing and utilization of squid skin, aiming to provide a theoretical basis for the deep processing of squid skin and promote the sustainable and healthy development of China's aquatic product processing industry. In the future, the research should focus on optimizing the extraction process of squid skin collagen, improving the targeting of its target peptide screening, and conducting active clinical validation studies, to provide reference for the development and high-value utilization of squid skin. [ABSTRACT FROM AUTHOR]

Objective: To clarify the intervention guidance of return to sports WeChat applet and evaluate the rehabilitation effectiveness after anterior cruciate ligament (ACL) reconstruction., Methods: Between September 2020 and September 2022, 80 patients who met the selection criteria and underwent ACL anatomical single bundle reconstruction were selected as the research objects. According to the double-blind random method, they were divided into the applet group and the regular group, with 40 cases in each group. Patients in the applet group were rehabilitated under the guidance of the return to sports WeChat applet, and the patients were asked to perform the test once a month after operation, including patients' subjective scores [Tegner score, knee injury and osteoarthritis outcome score (KOOS), International Knee Documentation Committee (IKDC) score, American Hospital for Special Surgery (HSS) score], psychological assessment [ACL recovery sports injury scale (ACL-RSI) score], jumping test, balance test, bending angle test. Patients in the regular group were followed up by doctors and nurses regularly by telephone every month. All the patients were reexamined at 3, 6, 9, and 12 months after operation, and the range of motion of the knee joint with 6 degrees of freedom (flexion and extension angle, varus and valgus angle, internal and external rotation angle, anteroposterior displacement, superior and inferior displacement, and internal and external displacement) recorded by Opti&#95;Knee three-dimensional knee joint motion measurement gait analysis system was observed. The anterior tibial translation difference (ATTD) was measured by Ligs knee measuring instrument when a forward thrust of 120 N was applied to the posterior part of the proximal tibia. Tegner score, IKDC score, KOOS score (including KOOS-Pain score, KOOS-Symptoms score, KOOS-Activities of daily living score, KOOS-Sport score, and KOOS-Quality of life score), HSS score, ACL-RSI score, jumping ability, balance ability, patients' satisfaction with the rehabilitation process, and ACL healing grading according to ACL continuity and signal intensity shown by MRI., Results: There were significant differences in various indicators between different time points after operation in the two groups ( P <0.05). At 3 months after operation, except that the ACL-RSI score of the applet group was significantly higher than that of the regular group ( P <0.05), there was no significant difference in the other indicators between the two groups ( P >0.05). At 6 months after operation, the ACL-RSI score, IKDC score, Tegner score, KOOS scores of different items, HSS score, balance and jumping ability of the applet group were significantly higher than those of the regular group ( P <0.05), and there was no significant difference in the other indicators between the two groups ( P >0.05). At 9 months after operation, there was no significant difference in all indicators between the two groups ( P >0.05). At 12 months after operation, 27 cases (67.5%) in the applet group and 21 cases (52.5%) in the regular group returned to sport, with a significant difference of the return to sports incidence between the two groups [ RR (95% CI )=1.50 (1.00, 2.25), P =0.049]. In the applet group, 27 cases were very satisfied with the rehabilitation process, 10 cases were satisfied, 2 cases were basically satisfied, and 1 case was not satisfied, while 19, 13, 5, and 3 cases in the regular group, respectively. The satisfaction degree of the applet group was significantly better than that of the regular group ( P =0.049). MRI examination of the two groups showed that the ACL was continuous without secondary rupture or necrosis. The ACL healing grade of the applet group was 31 cases of grade 1 and 9 cases of grade 2, and that of the regular group was 28 cases of grade 1 and 12 cases of grade 2, there was no significant difference in ACL healing grade between the two groups ( P =0.449)., Conclusion: The application of return to sports WeChat applet in the rehabilitation of patients after ACL reconstruction can significantly reduce the fear of return to sports and improve the rate of return to sports. The return to sports WeChat applet is convenient to operate, with high utilization rate and high patient compliance, which significantly improves the satisfaction.

Objective: To summarize the evaluation methods of return to sports (RTS) after anterior cruciate ligament reconstruction (ACLR) in recent years, in order to provide reference for clinical practice., Methods: The literature related to the RTS after ACLR was searched from CNKI, Wanfang, PubMed, and Foreign Medical Information Resources Retrieval Platform (FMRS) databases. The retrieval range was from 2010 to 2023, and 66 papers were finally included for review. The relevant literature was summarized and analyzed from the aspects of RTS time, objective evaluation indicators, and psychological evaluation., Results: RTS is the common desire of patients with ACL injury and doctors, as well as the initial intention of selecting surgery. A reasonable and perfect evaluation method of RTS can not only help patients recover to preoperative exercise level, but also protect patients from re-injury. At present, the main criterion for clinical judgement of RTS is time. It is basically agreed that RTS after 9 months can reduce the re-injury. In addition to time, it is also necessary to test the lower limb muscle strength, jumping, balance, and other aspects of the patient, comprehensively assess the degree of functional recovery and determine the different time of RTS according to the type of exercise. Psychological assessment plays an important role in RTS and has a good clinical predictive effect., Conclusion: RTS is one of the research hotspots after ACLR. At present, there are many related evaluation methods, which need to be further optimized by more research to build a comprehensive and standardized evaluation system.

Objective: To explore the genetic basis for a child with congenital disorder of glycosylation type 1y (CDG-1y) in conjunct with congenital dysplasia of external auditory canal., Methods: Trio-whole exome sequencing (trio-WES) was carried out for the family. Candidate variant was verified by Sanger sequencing. Pathogenicity of the variant was predicted with a variety of bioinformatic tools., Results: The proband, a 10-years-old boy, presented with mental retardation, microcephaly and dysplasia of external auditory canal. Trio-WES revealed that he has harbored a de novo frameshift variant c.302dupC (p.Y102Lfs*2) in exon 4 of SSR4 gene, which was unreported previously (PS2). The variant was absent in major allele frequency databases (PM2) and was predicted to be pathogenic by multiple bioinformatic tools (PP3). UCSF chimera software suggested that the c.302dupC (p.Y102Lfs*2) variant can induce significant alteration to the structure of SSR4 protein, resulting loss of function (PVS1+PM1). Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1+PS2+PM1+PM2+PP3)., Conclusion: The de novo frameshift variant c.302dupC (p.Y102Lfs*2) of the SSR4 gene probably underlay the child's condition. Above finding has enriched the spectrum of SSR4 mutations and the phenotypic spectrum of CDG-1y.

Objective: To analyze pathogenic variant s of KMT2A gene in a child with Wiedemann-Steiner syndrome (WDSTS) and provide reliable evidences for clinical diagnosis of WDSTS., Methods: Whole-DNAs were extracted from an 9 years-old boy and his parents. Trio-whole exome sequencing (trio-WES) was performed to identify candidate pathogenic variants that can explain the boy's condition and sanger sequencing was conducted to prove it. The impact of detected variants were predicted and validated by bioinformatics tools., Results: A de novo frameshift variant c.10488dupG (p.Leu3498Thrfs*41) in exon 27 of KMT2A gene was detected and this de novo variant (PS2) had not been reported in the world previously. This frameshift variant was absent in major allele frequency databases (PM2) and had been predicted to be pathogenic based on MutationTaster. Through HomoloGene and CD-search system, the 3498 locus (Leu) in KMT2A protein, which was an important histone modifying enzyme that regulated gene expression in early embryonic development and encoded by the KMT2A gene, was predicted as a high conserved locus (PP3), and that replacement of Lue3498 may result in frame-shifts with premature termination in 3539 locus by introducing stop codon, causing deletion of multiple functional domains which all played important roles on histone modifications and recognition (PVS1+PM1). According to the American College of Medical Genetics and Genomics variant classification guideline, the variant c.10488dupG (p.Leu3498Thrfs*41) in KMT2A was classified as pathogenic variant (PVS1+PS2+PM1+PM2+PP3)., Conclusion: The patient's condition may be attributed to the de novo frameshift variant c.10488dupG (p.Leu3498Thrfs*41) in KMT2A gene. This study reported a pathogenic KMT2A variant that had not been reported previously in WDSTS, it expanded the genotypic spectrums of KMT2A variants.

Objective: To report on a patient with congenital muscular dystrophy (CMD) due to a missense variant of LMNA gene and explore its pathogenicity., Methods: The 1-year-and-1-month-old boy has presented with motor development delay and elevation of muscle enzymes for more than half a year. Congenital myopathy was suspected. Following muscle biopsy, HE staining, immunostaining and electron microscopy were conducted to clarify the clinical diagnosis. Meanwhile, DNA was extracted from the child and his parents' peripheral venous blood samples. Trio-whole exome sequencing (trio-WES) was carried out to detect pathogenic variant in the child. Candidate variant was verified by Sanger sequencing and bioinformatic analysis., Results: Both light and electron microscopy showed a large area of necrotic muscle tissues with infiltration of inflammatory cells. Immunohistochemistry revealed a large amount of muscle cells to be diffusely positive for Dysferlin. The patient's motor delays, elevations of muscle enzymes and histopathological results suggested a clinical diagnosis of CMD. A de novo missense c.1072G>A (p.E358K) variant was detected in the LMNA gene by trio-WES. The variant was unreported previously (PS2) and was absent from major allele frequency databases (PM2). It was a loss of function variant and was considered as hotspot variant in the LMNA gene (PM1) as the amino acid (E), located in position 358, was highly conserved, and change of this amino acid was found to cause destruction of the filament domain (AA: 30-386), which may result in serious damage to the intermediate filament protein. Furthermore, c.1072G>A (p. E358K) in LMNA gene was also predicted to be pathogenic based on MutationTaster, PROVEAN and PolyPhen-2 (PP3) analysis. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), the variant was classified to be likely pathogenic (PS2+PM1+PM2+PP3)., Conclusion: The child's condition may be attributed to the de novo missense c.1072 G>A (p.E358K) variant of the LMNA gene. Above discovery has expanded the variant spectrum of the LMNA gene.

Objective: To analyze a pathogenic variant of MEFV gene in a family with autosomal dominant-familial Mediterranean fever (AD-FMF)., Methods: A 5-year-old boy presented with recurrent aseptic meningitis and his major symptoms included recurrent fever with headache and vomiting. His family members including his mother, sister and brother also had recurrent fever. A genetic disease was considered. DNAs were extracted from patient and all his family members' blood samples. Whole exome sequencing was performed to identify putative pathogenic variants that can explain this family's condition and Sanger sequencing was conducted. The impact of detected variants were predicted and validated by bioinformatics., Results: A missense variant c.2229C>G (p.Phe743Leu) in MEFV gene was identified in the proband and his family members including his mother, sister and brother. This variant had not been reported in China previously, but the locus of it had already been reported in Arabic patient with AD-FMF (PS1). This variant was absent in major allele frequency databases (PM2) and had been predicted to be pathogenic based on Mutationtaster, PROVEAN and PolyPhen-2. In addition, the change of amino acid, locating in 743 locus of pyrin protein, encoding by MEFV gene, was found to cause SPRY&#95;PRY&#95;TRIM20 and SPRY&#95;superfamily domain destroyed and finally influenced the fuction of pyrin protein. On the other hand, using UCSF chimera software, we find the variant c.2229C>G (p.Phe743Leu) can induce serious influence to the spatial structure of pyrin protein and loss of protein fuction (PP3). According to the ACMG variant classification guideline, the variant c.2229C>G (p.Phe743Leu) in MEFV gene was classified as likely pathogenic (PS1+PM2+PP3)., Conclusion: The condition of this AD-FMF family may be attributed to the missense variant c.2229C>G (p.Phe743Leu) in MEFV gene. The recurrent aseptic meningitis was a very rare manifestation in AD-FMF patients and had not been reported in China previously. The clinical and genetic findings of the present study are helpful for the further understanding of AD-FMF.

Objective: To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome., Methods: Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for the proband. Suspected variants were validated by Sanger sequencing. The impact of the variants was predicted by bioinformatic analysis., Results: The child was found to harbor a de novo missense variant c.2623C>T (p.Asp875Tyr) in exon 13 of the KAT6B gene. The variant was previously unreported, and was not recorded in the major allele frequency database and predicted to be pathogenic based on PolyPhen-2, MutationTaster and PROVEAN analysis. As predicted by UCSF chimera and CASTp software, the variant can severely impact the substrate-binding pocket of histone acetyltransferase, resulting in loss of its enzymatic activity. Based on standards and guidelines by the American College of Medical Genetics and Genomics, the variant was classified to be likely pathogenic (PS2+PM2+PP3)., Conclusion: The child's condition may be attributed to the de novo missense c.2623C>T (p.Asp875Tyr) variant of the KAT6B gene.

Objective: To explore the molecular basis for a child featuring with Floating-Harbor syndrome., Methods: The 2-year-and-8-month-old child presented with retarded growth and language development. Genomic DNA was extracted from peripheral blood samples from the child and his parents with informed consent and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing. Pathogenecity of the variants were predicted by using bioinformatic tools., Results: The child was found to carry a de novo frameshift variant c.7273dupA (p. Thr2425Asnfs*18) in the SRCAP gene. The variant was unreported previously and predicted to be pathogenic by MutationTaster. Analysis using HomoloGene system and MEGA software indicated position 2425 of the SRCAP protein to be highly conserved. Substitution of amino acid (Thr) at this position may cause destruction of three AT-hook domains (Amino acid 2857-2869, 2936-2948 and 3004-3016) and serious damage to the function of SRCAP protein., Conclusion: The patient's condition may be attributed to the de novo frameshift variant c.7273dupA (p. Thr2425Asnfs*18) of the SRCAP gene. Above finding can facilitate diagnosis of Floating-Harbor syndrome among Chinese population.

Objective: To explore the genetic basis for a child featuring X-linked intellectual disability., Methods: The 1-year-and-6-month-old child presented with growth retardation, intellectual disability and bilateral alternating squint. With DNA extracted from the child and his parents' peripheral venous blood samples, whole exome sequencing was carried out to identify potential variants that can explain his condition. Suspected variants were validated by Sanger sequencing. The impact of variants was predicted by bioinformatic tools., Results: The child was found to harbor a de novo nonsense c.3163C>T (p.Arg1055*) variant of the IQSEC2 gene. The variant, unreported previously, was predicted to be pathogenic based on MutationTaster, PROVEAN and SIFT. Analysis using a HomoloGene system suggested Arg1055 in IQSEC2 residues to be highly conserved evolutionarily, and that replacement of Arg1055 may cause destroy of the PH domain (AA 951-1085) and serious damage to the function of IQSEC2 protein. Analysis with UCSF chimera software suggested that the c.3163C>T (p.Arg1055*) variant can induce serious damages to the secondary structures of IQSEC2 protein, causing loss of its function., Conclusion: The patient's condition may be attributed to the de novo nonsense variant c.3163C>T (p.Arg1055*) of the IQSEC2 gene.

Objective: To analyze pathogenic variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome (OCNS)., Methods: The 8-year-old boy presented with growth retardation, intellectual disability and spells of breath holding. With genomic DNA extracted from peripheral blood samples of the patient and his parents, whole exome sequencing was carried out. Putative pathogenic variants were verified with Sanger sequencing. The nature and impact of detected variants were predicted through bioinformatic analysis., Results: A novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene was identified, which was unreported previously. The variant was predicted to be pathogenic by PolyPhen-2, Mutation Taster and SIFT software. Based on a HomoloGene system, 50 loci within the CK2alpha protein are highly conserved. The change of amino acid (Cys) at position 50 has destroyed the ATP binding loop domain, causing serious damage to its function. As predicted by a Swiss PDB viewer, the variant can significantly alter the spatial structure of CK2alpha, resulting in loss of protein function., Conclusion: The patient's condition may be attributed to the novel de novo missense variant c.149A>G (p.Tyr50Cys) of the CSNK2A1 gene.

Objective: To detect pathogenic variant in a juvenile with severe type Cornelia de Lange syndrome (CdLS)., Methods: A 12-year-old female presented with comprehensive developmental retardation and deformity of lower limbs. Genomic DNA was extracted from peripheral blood sample of the patient. Whole exome sequencing was performed to identify pathogenic variants. Putative variant was verified by Sanger sequencing. The impact of variants was predicted and validated by bioinformatic analysis., Results: A de novo missense variant, c.1507A>G (p. Lys503Glu), was found in the NIPBL gene of the proband. The variant was unreported previously and predicted to be pathogenic by PolyPhen-2, MutationTaster and SIFT. Using HomoloGene system, the 503 loci in the NIPBL protein are highly conserved. The change of amino acid (Glu), locating in 503 locus, was found to cause the Neuromodulin&#95;N superfamily domain destroyed, resulting in severe damage to the function of NIPBL protein., Conclusion: The de novo missense variant c.1507A>G (p. Lys503Glu) of the NIPBL gene probably underlies the disease in this patient.

Objective: To detect pathogenic variant of ARSA gene in an infant with late infantile metachromatic leukodystrophy (MLD)., Methods: The male proband had an onset of walking dysfunction and seizure at 28 months. Arylsulfatase A activity of his peripheral blood leucocytes was 26.9 nmol/mg.17h, and cranial MRI showed wild symmetrical demyelination. With genomic DNA extracted from his peripheral blood sample, all coding exons and splicing sites of the ARSA gene were subjected to Sanger sequencing. PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. Ucsf chimera software was used to analyze the impact of candidate variants on the secondary structure of the protein product. Impact of potential variants was also analyzed with software including PolyPhen-2, Mutation Taster, SIFT and PROVEAN. Whole-exome sequencing was carried out to identify additional variants which may explain the patient's condition., Results: The proband was found to harbor compound heterozygous variants of the ARSA gene [c.467G>A (p.Gly156Asp) and c.960G>A (p.Trp320*)], neither of which was reported previously. As predicted by Ucsf chimera software, the c.960G>A (p.Trp320*) variant may demolish important secondary structures including α-helix, β-strand and coil of the ARSA protein, causing serious damage to its structure and loss of function. The c.467G>A (p.Gly156Asp) variant was predicted to be "probably damaging" by PolyPhen-2, Mutation Taster and SIFT software., Conclusion: The patient's condition may be attributed to the compound heterozygous c.467G>A (p.Gly156Asp) and c.960G>A (p.Trp320*) variants of the ARSA gene. Above results have facilitated genetic counseling and prenatal diagnosis for this family.

Objective: To detect potential mutations of HEXB gene in an infant with Sandhoff disease (SD)., Methods: Genomic DNA was extracted from peripheral blood sample of the infant. All coding exons (exons 1 to 14) and splicing sites of the HEXB gene were subjected to PCR amplification and direct sequencing.PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. PubMed BLAST CD-search was performed to identify functional domains destroyed by thecandidate mutations. Impact of the mutations was analyzed with software including PolyPhen-2, Mutation Taster and SIFT. Whole-exome sequencing was carried out to identify additional mutations., Results: The infant was found to carry compound heterozygous mutations c.1652G>A(p.Cys551Tyr) and c.1389C>G (p.Tyr463*) of the HEXB gene. The c.1389C>G (p.Tyr463*) mutation may lead to destruction of two functional domains in β subunit of the Hex protein. The c.1652G>A(p.Cys551Tyr) mutation, unreported previously,was predicted to be probably damaging by Bioinformatic analysis., Conclusion: Compound heterozygous mutations c.1652G>A(p.Cys551Tyr) and c.1389C>G (p.Tyr463*) in the HEXB gene probably underlie the disease in this patient.

Objective: To study the effects of decabrominated biphenyl ether (BDE-209) exposure on differentiation capacity of human embryonic stem cells., Methods: Human embryonic stem cell line FY-hES-10 cells were exposed to the concentrations of 0 (solvent control), 1, 10 to 100 nmol/L BDE-209 for 96 h and then were differentiated into embryoid bodies (EBs) in vitro. The RNA of EBs derived from FY-hES-10 cells at Day 10 was collected. OCT4,three-layer differentiation-related genes (AFP,SMA and PAX6) and oxidative stress-related genes (HIF1a, HIF2a and SOD1) expression was detected by Q-PCR. The contents of SOD was measured by using kit., Results: Compared with the solvent control group, the expression levels of OCT4, SMA, HIF1a and HIF2a in BDE-209 exposure groups were increased, the expression levels of AFP, PAX6 and SOD1 were decreased, with statistically significant differences (P < 0.05). With the increase of the BDE-209 dose, the expression levels of OCT4 showed an increasing trend while the expression levels of SOD1 and the activity of the SOD showed a decreasing trend., Conclusion: BDE-209 may interfere with differentiation capacity of human embryonic stem cells resulting in developmental toxicity.

Objective: To analyze the correlation between environmental factors and the lipophilic and hydrophilic constituents of Polygalae Radix., Method: The contents of lipophilic constituent were determined by GC-MS and hydrophilic constituents by HPLC. Geographical factors were collected by on-site inspection and climate factors by the local meteorological data. The relationship between the content of the lipophilic and hydrophilic constituents and the factors were analyzed by SPSS 18.0., Result: There was linear relationship between the content of lipophilic constituent and climate factors such as average temperature of July, average temperature of January. There was also linear relationship between hydrophilic constituents and climate factors such as annual average temperature, latitude, annual average rainfall., Conclusion: The main climate factors that affect liposoluble constituent content were average temperature of July, average temperature of January, and the main climate factors that affect hydrophilic constituent content were annual average temperature, latitude, annual average rainfall. The study would contribute to the quality evaluation and suitability of origin of Polygalae Radix.