Objective:To carry out invasive prenatal diagnosis for a fetus with ultrasound-indicated agenesis of corpus callosum and explore its genetic etiology.Methods:A pregnant woman presented at the Affiliated Hospital of Putian College on December 16, 2022 was selected as the study subject. Amniotic fluid and peripheral blood samples from the fetus and the couple were collected. Conventional G-banded chromosomal karyotyping was carried out, and whole-genome copy number variation analysis was performed using single nucleotide polymorphism microarray (SNP-array).Results:The karyotypes of the fetus and the couple were normal by the G-banding analysis. SNP-array analysis of the amniotic fluid sample revealed a 4.5 Mb microdeletion in the 18q21.2q21.31 region of the fetus. SNP-array analysis of peripheral blood samples from the couple did not find any abnormality.Conclusion:Through G-banded chromosomal karyotyping and SNP-array analysis, a fetus with 18q21.2q21.31 microdeletion was identified, which has conformed to the diagnosis of Pitt-Hopkins syndrome. Above finding has provided a basis for genetic counseling for the couple.

Objective:To investigate the relationship between adiponectin (ADIPOQ) gene polymorphism and postpartum type 2 diabetes mellitus (T2DM) in pregnant women with gestational diabetes mellitus (GDM).Methods:A retrospective study was conducted on 236 GDM postpartum women admitted to the Affiliated Hospital of Jining Medical College from June 2020 to June 2021 as observation subjects. They were divided into a T2DM group and a non T2DM group based on the occurrence of T2DM after delivery. The clinical data of the two groups were compared. The double deoxygenation end termination method was used to detect the single nucleotide polymorphism (SNP) of the ADIPOQ gene, and the four loci rs17366568, rs822395, rs1501299, and rs2241766 were classified. The relationship between ADIPOQ genotype polymorphism and postpartum T2DM was analyzed using a logistic regression model.Results:The G allele carrying the rs2241766 locus in ADIPOQ gene was negatively correlated with the occurrence of T2DM ( OR=0.71, 0.68, P<0.05). Compared with T2DM patients with TT genotype, the GT+ GG genotype at the rs2241766 locus had a lower risk of occurrence for gestational age ≥2 and HbA 1c>85%. Similarly, T2DM patients with pre pregnancy body mass index (BMI)>25 kg/m 2 were more likely to be carriers of the rs2241766 TT genotype ( P=0.026). The (GT+ TT) genotype carrying the T allele at the rs1501299 locus was a protective factor for gestational age and HbA 1c in T2DM patients. Conclusions:The rs2241766 and rs1501299 polymorphisms of the ADIPOQ gene are associated with susceptibility to postpartum T2DM in GDM women. Individuals with rs2241766 and rs1501299 mutant genotypes belong to the high-risk population for T2DM.

ObjectiveTo reveal the influence of Jianchangbang characteristic processing method on the change process of volatile components and the processing mechanism of reducing toxicity and increasing efficiency of Magnoliae Officinalis Cortex（MOC） by studying the changes in the composition and content of volatile components during the processing of ginger processed Xingpo pieces. MethodSamples of raw products， ginger juice moisturized products and stir-fried and heap moisturized products of MOC were taken according to the set time points， and headspace gas chromatography-mass spectrometry（HS-GC-MS） was used to determine the contents of volatile components in the samples， and the relative content of each component was obtained by peak area normalization. Principal component analysis（PCA） and orthogonal partial least squares-discriminant analysis（OPLS-DA） were performed on the sample data using SIMCA 14.1 software， and the differential components during the processing were screened with variable importance in the projection（VIP） value>1 as the indicator. ResultA total of 68 volatile components were identified in the samples， among which some of the chemical components with similar structures showed similar trends of changes， and there was also the phenomenon of interconversion between compounds. Compared with the raw products， the contents of 42 components in ginger juice moisturized products increased， while the contents of 25 components decreased， 19 components were unique， and 4 components were unique to the raw products. Compared with ginger juice moisturized products， MOC in the early stage of piling had three unique components， and the contents of 11 components such as cyclosativene and （+）-α-pinene increased， and the contents of 5 components such as tricyclic terpene and α-curcumene decreased， and ginger juice moisturized products had four unique components. Compared with the early stage of piling， in the later stage， the contents of 8 components such as （+）-α-pinene and camphene significantly increased， while the contents of 6 components such as linalool and α-selinene significantly decreased. During the processing of MOC， there were significant changes in the chemical composition of the samples before and after 20 days. The differences between ginger juice moistening and the early stage of piling， the early stage and the later stage of piling could be clearly distinguished. ConclusionDuring the preparation process of ginger processed Xingpo pieces， the addition of ginger juice can reduce the contents of stimulating components， and the contents of active components continue to increase in several stages， such as the addition of ginger juice， frying and heap moisturizing， the quality of the decoction pieces may change significantly at about 20 d of processing. This study can provide a research basis for exploring the processing mechanism of ginger processed Xingpo pieces.

Objective A comparison of two method of establishing pressure ulcer rat models to determine which is the most suitable for experimental use.Methods 18 male SD rats were randomly divided into control(n=6),model A(n=6)and model B(n=6)groups.In the control group,iodophor treatment was given after hair removal at the simulated modeling site.In model group A,longitudinal compression was performed by simple deep-tissue foreign body implantation.In model group B,transverse compression was performed via the magnet compression method.The times required to complete the process and for each stage of pressure ulcer model establishment in each group were recorded.The general condition of the rats was observed,and the modeling rate,mortality rate,and infection rate were compared.Results By naked eye,we observed that the model A and model B groups gradually developed redness and swelling,ulceration,bleeding,exudation,and necrosis.Comparison of the whole time to produce pressure uler between model A and model B groups:the difference between the two groups was statitically significant(P＜0.05).Comparison of the time to produce pressure injury between Model A and Model B:The difference between the two groups at stage Ⅰ was not statistically significant(P＞0.05);the difference between the two groups at stage Ⅱ was statistically significant(P＜0 05);the difference between the two groups at stage Ⅲ was statistically significant(P＜0 05);the difference between the two groups at stage Ⅳ was statistically significant(P＜0 05).The mental and sports scores of the rats in the control group were significantly different from those in the model A and model B groups(P＜0.05).The general state of rats in the model group A was significantly different from that in the model B group,and coat color was dimer and activity decreased in the model group A.The modelling rate of rats in both model A and model B groups was 100％.The mortality and infection rates of the model group A were higher than those of the model group B,which were 33.34％and 16.70％,respectively.Conclusions Successful preparation of a four-stage model of pressure ulers in both modalities.The two method have both commonalities and distinct characteristics.The magnet compression method required less time,the rats were generally in good condition,and the mortality and infection rates were low;thus it is suitable for short-term intervention research.The simple deep-tissue foreign body implantation method took longer,required rats to have a certain level of tolerance,had high infection and mortality rates,and is more suitable for use for long-term observations of pressure ulcers.

Lipids,including fats(triglycerides)and lipoids(phospholipids and sterols),not only serve as an energy source for the body but also play a pivotal role throughout the reproductive process,particularly in the establishment and maintenance of early pregnancy.This encompasses the regulate of early embryonic development and uterine tolerance,and the facilitation of embryo implantation.Given the diversity of lipids,this review focuses on extensively studied lipid mediators such as polyunsaturated fatty acids,endocannabinoids,prostaglandins,lysophosphatidic acid,sphingolipids and steroid hormones.It systematically elaborates on the regulatory effects of fatty acid,phospholipid,and cholesterol metabolism on the formation of endometrial receptivity and embryo implantation,as well as the potential underlying mechanisms.The review aims to provide new insights and feasible intervention approaches for predicting and improving the outcomes of natural pregnancy and/or assisted reproductive technology.

OBJECTIVE: To investigate a family with congenital dysfibrinogenemia, and analyze the risk of hemorrhage and thrombosis and blood transfusion strategies. METHODS: Prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT) of the proband and her family members were detected by automatic coagulometer, fibrinogen (Fg) activity and antigen were detected by Clauss method and PT algorithm respectively. Meanwhile, thromboelastometry was analyzed for proband and her family members. Then, peripheral blood samples of the proband and her family members were collected, and all exons of FGA, FGB and FGG and their flanks were amplified by PCR and sequenced to search for gene mutations. RESULTS: The proband had normal APTT and PT, slightly prolonged TT, reduced level of Fg activity (Clauss method). The Fg of the proband's aunt, son and daughter all decreased to varying degrees. The results of thromboelastogram indicated that Fg function of the proband and her family members (except her son) was basically normal. Gene analysis showed that there were 6233 G/A (p.AαArg35His) heterozygous mutations in exon 2 of FGA gene in the proband, her children and aunt. In addition, 2 polymorphic loci were found in the family, they were FGA gene g.9308A/G (p.AαThr331Ala) and FGB gene g.12628G/A (p.BβArg478Iys) polymorphism, respectively. The proband was injected with 10 units of cryoprecipitate 2 hours before delivery to prevent bleeding, and no obvious bleeding occurred during and after delivery. CONCLUSION Heterozygous mutation of 6233G/A (p.AαArg35His) of FGA gene is the biogenetic basis of the disease in this family with congenital dysfibrinogenemia.
Humans ; Child ; Female ; Fibrinogen/genetics* ; Pedigree ; Afibrinogenemia/genetics* ; Mutation ; Blood Transfusion

Objective To develop a nurse-patient interaction integrated APP"NET Home"to provide detailed care and follow-up management for patients with neuroendocrine tumors(NENs)trea-ted with long-acting octreotide.Methods"NET Home"APP included three ports:patient side,medical side and management side.After discharge,NENs patients timely and comprehensive fed back on adverse reactions and discomfort symptoms through APP,and medical staff timely guided patients to deal with them online.Results At 1 year after"NET Home"APP application,45 patients registered(injected with long-acting octreotide once every 28 days).A total of 145 copies of Micro-nutrition Evaluation Scales,147 Tumor Patients'Quality of Life Rating scales,102 Pain Digital Evaluation Scales,103 Adverse Reactions Questionnaire of Long-acting Octreotide Injection,102 Self-care Ability Scales,111 Self-rating Scales for depression and 102 Self-rating Scales for anxiety were collected.The medical staff treated 5 cases of adverse reactions by APP,and gave timely handling to 1 case of severe adverse reactions(the patient eventually stopped long-acting octreotide therapy).Compared with NENs patients who did not use APP,anxiety scores of NENs patients who used APP decreased(P＜0.05);their satisfaction scores and quality of life scores were improved,and the number of unplanned admissions decreased,but the differences showed no statistically significant(P＞0.05).Conclusion"NET Home"APP can realize refined and personalized nursing intervention through multiple module functions,which can realize continuous home care for NENs patients,relieve their anxiety and improve their self-management ability,quality of life and treatment compliance.

Objective To develop a nurse-patient interaction integrated APP"NET Home"to provide detailed care and follow-up management for patients with neuroendocrine tumors(NENs)trea-ted with long-acting octreotide.Methods"NET Home"APP included three ports:patient side,medical side and management side.After discharge,NENs patients timely and comprehensive fed back on adverse reactions and discomfort symptoms through APP,and medical staff timely guided patients to deal with them online.Results At 1 year after"NET Home"APP application,45 patients registered(injected with long-acting octreotide once every 28 days).A total of 145 copies of Micro-nutrition Evaluation Scales,147 Tumor Patients'Quality of Life Rating scales,102 Pain Digital Evaluation Scales,103 Adverse Reactions Questionnaire of Long-acting Octreotide Injection,102 Self-care Ability Scales,111 Self-rating Scales for depression and 102 Self-rating Scales for anxiety were collected.The medical staff treated 5 cases of adverse reactions by APP,and gave timely handling to 1 case of severe adverse reactions(the patient eventually stopped long-acting octreotide therapy).Compared with NENs patients who did not use APP,anxiety scores of NENs patients who used APP decreased(P＜0.05);their satisfaction scores and quality of life scores were improved,and the number of unplanned admissions decreased,but the differences showed no statistically significant(P＞0.05).Conclusion"NET Home"APP can realize refined and personalized nursing intervention through multiple module functions,which can realize continuous home care for NENs patients,relieve their anxiety and improve their self-management ability,quality of life and treatment compliance.

Acephalic spermatozoa syndrome is a rare type of teratozoospermia that severely impairs the reproductive ability of male patients, and genetic defects have been recognized as the main cause of acephalic spermatozoa syndrome. Spermatogenesis and centriole-associated 1 like (SPATC1L) is indispensable for maintaining the integrity of sperm head-to-tail connections in mice, but its roles in human sperm and early embryonic development remain largely unknown. Herein, we conducted whole-exome sequencing (WES) of 22 infertile men with acephalic spermatozoa syndrome. An in silico analysis of the candidate variants was conducted, and WES data analysis was performed using another cohort consisting of 34 patients with acephalic spermatozoa syndrome and 25 control subjects with proven fertility. We identified biallelic mutations in SPATC1L (c.910C>T:p.Arg304Cys and c.994G>T:p.Glu332X) from a patient whose sperm displayed complete acephalia. Both SPATC1L variants are rare and deleterious. SPATC1L is mainly expressed at the head-tail junction of elongating spermatids. Plasmids containing pathogenic variants decreased the level of SPATC1L in vitro. Moreover, none of the patient's four attempts at intracytoplasmic sperm injection (ICSI) resulted in a transplantable embryo, which suggests that SPATC1L defects might affect early embryonic development. In conclusion, this study provides the first identification of SPATC1L as a novel gene for human acephalic spermatozoa syndrome. Furthermore, WES might be applied for patients with acephalic spermatozoa syndrome who exhibit reiterative ICSI failures.
Centrioles/genetics* ; Homozygote ; Humans ; Infertility, Male/genetics* ; Male ; Mutation ; Spermatogenesis/genetics* ; Spermatozoa

Antibodies, Monoclonal, Humanized/adverse effects* ; Humans ; Immune Checkpoint Inhibitors/adverse effects* ; Myocarditis/drug therapy*