OBJECTIVE: To identify the gene mutation types of 4 suspected β-thalassemia patients in Yunnan Province, and to analyze the genotypes and hematological phenotypes. METHODS: Whole genome sequencing was performed on the samples of 4 suspected β-thalassemia patients from the Dai ethnic group in a thalassemia endemic area of Yunnan Province, whose hematological phenotypes were not consistent with the results of common thalassemia gene mutations. The mutations of β-globin gene clusters were confirmed by polymerase chain reaction (PCR) and Sanger DNA sequencing technology. RESULTS: The 3.5 kb deletion in β-globin gene cluster (NC_000011.10: g. 5224302-5227791del3490bp) was detected in 4 patients' samples, of which 1 case was also detected with HbE mutation and 1 case with CD17 mutation. These 2 patients displayed moderate anemia phenotype, while the two patients with only the 3.5 kb deletion presented with other mild anemia phenotype. CONCLUSION Heterozygous carriers with rare 3.5 kb deletion of the β-globin gene cluster may develop mild anemia, compound mutations of the 3.5 kb deletion with other mutations may led to intermediate thalasemia with moderate to sever anemia. In areas with a high incidence of thalassemia, suspected patients should undergo genetic testing to avoid missing or misdiagnosing rare mutations.
Humans ; beta-Globins/genetics* ; Multigene Family ; beta-Thalassemia/genetics* ; Mutation ; Genotype ; Sequence Deletion ; Phenotype ; Male ; Female

A 35-year-old male patient was admitted in October, 2018 to Burn and Plastic Surgery Department, Sanya Central Hospital (Hainan Third People’s Hospital) with diagnosis of complex pressure ulcer, hip arthritis, urethral fistula. The patient was treated with systemic support, debridement, negative pressure drainage, bilateral gluteus maximus myocutaneous flap and scrotal flap. After the two-week treatment with this method, the wounds were healed completely.

A 35-year-old male patient was admitted in October, 2018 to Burn and Plastic Surgery Department, Sanya Central Hospital (Hainan Third People’s Hospital) with diagnosis of complex pressure ulcer, hip arthritis, urethral fistula. The patient was treated with systemic support, debridement, negative pressure drainage, bilateral gluteus maximus myocutaneous flap and scrotal flap. After the two-week treatment with this method, the wounds were healed completely.

OBJECTIVE[corrected] To characterize the insulinotropic action of hippocampal cholinergic neurostimulating peptide (HCNP) and analyze the role of type 3 muscarinic receptor (M(3)R) pathway in the action of HCNP.

METHODSINS-1 cells were incubated in routine RPMI 1640 medium (control group), RPMI 1640 supplemented with 50 pg/ml synthetic HCNP (HCNP group), or HCNP-containing medium with the addition of PMA 18 h prior to insulin release assay. The insulin levels in the medium was measured using radioimmunoassay following stimulation with different concentrations of glucose. Real-time quantitative PCR was used for detecting the gene expression of HCNP-pp, choline acetyltransferase (ChAT) and M(3)R in HCNP group and control group.

RESULTSAfter stimulation with different concentrations of glucose (5.6 and 16.7 mmol/L), HCNP group showed significantly higher insulin levels than the control and HCNP+ PMA groups. Compared with those in the control group, the mRNA levels of HCNP-pp, ChAT, and M(3)R were all lowered in HCNP group.

CONCLUSIONHCNP can promote insulin release in INS-1 cells by increasing ChAT activity and activating M(3)R, and this effect is inhibited by PMA.

Animals ; Cell Line ; Insulin ; secretion ; Neuropeptides ; pharmacology ; Rats ; Receptor, Muscarinic M3 ; metabolism

OBJECTIVETo investigate the effect of liraglutide on the inflammatory cytokine interleukin-1β (IL-1β) and apoptotic factor caspase-3 expression in the pancreatic islets of OLETF rats with impaired glucose tolerance.

METHODSTwelve-week-old OLETF rats were randomized into 4 groups and received intraperitoneal injections of saline or liraglutide at 50, 100, or 200 µg/kg twice daily for 12 weeks. Eight LETO rats served as the normal control group and received saline injection. After the treatments, the rats were examined for fasting and 30 min plasma insulin during OGTT test, and the expression levels of IL-1β and caspase-3 mRNA and protein in the pancreatic islets were detected by real-time PCR and Western blotting, respectively.

RESULTSCompared with the saline group, liraglutide significantly decreased the expressions of IL-1β and caspase-3 mRNA and protein, and significantly improved the blood glucose, islet β function and early-phase insulin secretion index in OLETF rats.

CONCLUSIONSLiraglutide can improve islet function and glucose metabolism partially by inhibiting islet IL-1β expression to delay or prevent the development of diabetes in OLETF rats.

Animals ; Blood Glucose ; metabolism ; Caspase 3 ; metabolism ; Diabetes Mellitus, Experimental ; metabolism ; Glucagon-Like Peptide 1 ; analogs & derivatives ; pharmacology ; Insulin ; secretion ; Interleukin-1beta ; metabolism ; Islets of Langerhans ; metabolism ; Liraglutide ; Male ; Rats ; Rats, Inbred OLETF

Objective To further confirm the clinical value of serum total bile acid (TBA) in hepatic lesion in patients with hemolytic disease of the newborn.Methods Enzyme circulation assay was applied to measuring in 68 patients with hemolytic disease of the newborn. Total bilirubin (TBIL), alanine aminotransferase (ALT), alkaline phosphatase (ALP) and γ-glutamyltransferase (GGT) were measured simultaneously.Results The serum level of TBA was (27.63±4.83) mmol/L in haemolysis group, significantly higher than that in control group (14.92±6.87) mmol/L (P<0.01). The positive rate accounted for 70.59% (48/68) in haemolysis group, and serum level of TBA was positively correlative with liver functional parameters (TBIL, ALT, GGT and ALP).Conclusion Serum TBA may be used as an indicator of therapeutic effect monitoring and prognosis evaluation of hepatic lesion in patients with hemolytic disease of the newborn.