[Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of SPTB Gene].

OBJECTIVE: To investigate the molecular mechanism of the disease based on the clinical characterization and genetic mutation analysis in a family with hereditary spherocytosis. METHODS: The proband with jaundice and anemia was referred to Yidu Central Hospital of Weifang in May 2021. Peripheral blood samples were collected from six members of the family. Second-generation sequencing was used to screen the pathological mutations, and the clinically significant variant sites were selected. Then the relevant databases were used to analyze the variant sites, and RT-qPCR was used to detect the relative mRNA levels of candidate gene. The structure and function of SPTB protein were analyzed by UniProt and SMART databases. RESULTS: We infer that the SPTB gene copy number variation (CNV) deletion was co-segregated with the phenotype of the patients in this family based on the results of second-generation sequencing (about 700 target genes). The UCSC Genome Browser demonstrated that the deleted region was mainly located in exon2-3 of SPTB gene. The results of RT-qPCR showed that the relative SPTB mRNA levels of all patients were lower than the healthy control. UniProt and SMART databases analysis showed that SPTB protein without CH1 and CH2 domains could not bind to erythrocyte membrane actin. CONCLUSION: The CNV deletion of SPTB gene may be the reason for the hereditary spherocytosis in this family.

Uncoupled bone remodeling is characteristic of bone damage in premenopausal women with new-onset systemic lupus erythematosus.

OBJECTIVE: To investigate the mechanism underlying systemic lupus erythematosus (SLE)-related bone loss by evaluating the bone mineral density (BMD) and bone turnover markers (BTMs) in premenopausal patients with new-onset SLE without any treatment. METHODS: BMD and BTMs of 106 premenopausal patients with new-onset SLE and 64 gender-, age- and body mass index (BMI)-matched healthy controls were analyzed. BMD was determined using dual energy X-ray absorptiometry (DXA). Serum BTMs were measured. RESULTS: Hip and lumbar spine BMD in premenopausal patients with new-onset SLE was significantly decreased compared with healthy controls. Higher rate of osteoporosis was observed in new-onset SLE patients (25% vs. 1%). Moreover, uncoupled bone remodeling evidenced by an increase in bone resorption marker ß-CTX (685.9 ± 709.6 pg/mL vs. 395.4 ± 326.0 pg/mL, P < 0.05) and decrease in bone formation markers PINP (37.4 ± 33.0 ng/mL vs. 46.1 ± 20.9 ng/mL, P < 0.05) and OC (11.4 ± 9.8 ng/mL vs. 18.2 ± 8.6 ng/mL, P < 0.05) was observed in premenopausal patients with new-onset SLE compared with healthy controls. Univariate correlation analyses showed negative correlations between OC and SLE Disease Activity Index (SLEDAI), and positive correlations between ß-CTX and SLEDAI. SLE patients positive for dsDNA, nucleosome showed lower OC and higher ß-CTX. CONCLUSION: Premenopausal patients with new-onset SLE had decreased BMD and abnormal bone metabolism with increased ß-CTX and decreased OC and P1NP levels, indicating uncoupled bone remodeling in new-onset SLE patients. Disease activity and abnormal immunity, especially the amount of antibodies in SLE patients, were strongly associated with abnormality of bone metabolism.

Anatomical study and modified incision of the infrahyoid myocutaneous flap.

Skin paddle necrosis and neck function damage, particularly rotation, are two problems associated with the infrahyoid myocutaneous flap clinical application. The aim of this study was to investigate vessel supply and drainage of the skin paddle and to report our modified flap incision technique. In this work, we conducted a cadaveric study and reviewed our experience with the modified incision and describe the surgical procedure. We confirmed the platysma muscle branch feeds the skin paddle overlying the infrahyoid myocutaneous flap. The length between the platysma muscle branch entry point and its originating point measured 3.38 (min 2.51, max 4.52) cm. The flap has two drainage systems. The skin paddle of the flap was drained by the anterior jugular vein and external jugular vein, respectively, or both. The infrahyoid muscles were drained by the superior thyroid vein. In the early four cases, where the platysma muscle branch was not protected, skin paddle necrosis appeared in two cases. In the later seven cases, which involved preservation of the platysma muscle branch, all flaps successfully survived. Patients in whom a modified incision was used all achieved both satisfactory rehabilitation of neck function and an adequate esthetic result. We conclude that the necrosis rate of the skin paddle of the flap can be reduced by carefully protecting its supply and drainage vessels. The modified incision can improve neck function postoperatively.