Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.

BACKGROUND: To explore the clinical application value of pre-conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age. METHODS: The results of genetic testing of infertile parents who underwent PECS in the Reproductive Medicine Center of the Second Affiliated Hospital of Zhengzhou University, China, from September 2019 to December 2021, were retrospectively analyzed. The carrier rate of single gene disease, the detection rate of high-risk parents, and the clinical outcome of high-risk parents were statistically analyzed. RESULTS: A total of 1372 Chinese Han ethnicity patients underwent PECS, among which 458 patients underwent the extended 108-gene test, their overall carrier rate was 31.7%, and the detection rate of high-risk parents was 0.3%. The highest carrier rates were SLC22A (2.4%), ATP7B (2.4%), MMACHC (2.2%), PAH (1.8%), GALC (1.8%), MLC1 (1.3%), UNC13D (1.1%), CAPN3 (1.1%), and PKHD1 (1.1%). There were 488 women with fragile X syndrome-FMR1 gene detection, and 6 patients (1.2%) had FMR1 gene mutation. A total of 426 patients were screened for spinal muscular atrophy-SMN1, and the carrier rate was 3.5%, and the detection rate of parents' co-carrier was 0.5%. CONCLUSION: Monogenic recessive hereditary diseases had a high carrier rate in the population. Pre-pregnancy screening could provide good prenatal and postnatal care guidance for patients and preimplantation genetic testing for monogenic/single gene disorders (PGT-M) and prenatal diagnosis could provide more precise reproductive choices for high-risk parents.

Autologous fat transfer rescues expanded skin from expansion failure: A retrospective cohort study in Asians.

BACKGROUND: Soft tissue expansion is a common technique for the regeneration of extra skin to repair skin defects. However, some warning signs like skin thinning and telangiectasia are often found during the expansion process, which indicates the skin flaps cannot be further expanded. These signs may result in the suspension of expansion or ultimately jeopardize the final outcome. Fat grafting is used to treat these potential complications and enable the continuation of the expansion procedure in some cases. In this study, we aimed to investigate the efficiency and safety of fat grafting in this process. METHODS: The study was conducted on patients from January 2012 to December 2017 with warning signs of expansion treated with fat grafting (treatment group) or pause expansion (control group). Follow-up data, such as expansion status, dermal thickness, telangiectasia, skin texture using volume assessment, B-mode ultrasound, and semiquantitative scoring, were collected. RESULTS: A total of 67 expanded skin regions with warning signs were enrolled. The expansion fold increased 2.14-fold at 12 weeks after treatment compared with 0.74-fold in control (P=0.02). The semiquantitative score was significant improved at 4 weeks (9.03 ± 0.73 vs. 7.45 ± 0.55; p=0.033). Meanwhile, the skin thickness in the experimental group did not show decreasing trend even in the continued expansion process. CONCLUSIONS: Autologous fat grafting represents an effective and safe method to rescue expanded skin from limited skin regeneration. This technique also represents a valuable tool to increase the chances for further expansion.

Therapeutic effects of STAT3 inhibition by nifuroxazide on murine acute graft graft-vs.-host disease: Old drug, new use.

Graft­vs.­host disease (GvHD) is a major and lethal complication of allogeneic bone marrow transplantation (allo­BMT). Although great development has been made, the treatment progress of this disorder is slow. Research has illustrated that STAT3 was critical for T cell alloactivation in GvHD. In the present study, the authors hypothesized that nifuroxazide, as the STAT3 inhibitor, treatment may attenuate the development of acute GvHD (aGvHD). The results demonstrated that nifuroxazide suppressed the development of aGvHD and significantly delayed aGvHD­induced lethality. Mice receiving nifuroxazide had mostly normal­appearing skin with minimal focal ulceration, mild edema and congestion in the liver, and a less­pronounced villus injury and less inflammatory infiltrate in the small intestine. Treatment with nifuroxazide inhibited the activation of STAT3, resulting in the regulation of the CD4+ T cells and CD4+CD25+ T cells and reduction of interferon­Î³ and tumor necrosis factor­α levels. In conclusion, nifuroxazide may be efficacious for post­transplant of GvHD, providing a potent drug for use as a prophylactic or as a second­line therapy for aGvHD in clinical trials.

Hand Rejuvenation by Targeted Volume Restoration of the Dorsal Fat Compartments.

BACKGROUND: Recent anatomic findings suggest aging-related changes of the complex fat distribution in the hand. OBJECTIVES: To rejuvenate the aging hand, we developed a targeted fat grafting technique based on the physiologic fat distribution of the hand. METHODS: The dorsum of both hands was examined in 30 healthy volunteers of different age utilizing B-mode ultrasound to determine physiological changes of the aging hand. Additional anatomic dissection was performed in 10 hands of five fresh cadavers to establish the anatomic basis for the targeted restoration technique. A total of 17 patients were treated for hand rejuvenation utilizing this technique and followed up for at least 6 months. The posttreatment outcome was assessed through B-mode ultrasound, 3-dimensional (3D) topography scanning, and a patient satisfaction survey. RESULTS: According to the fat distribution of the dorsum, hand aging was divided into three grades: (1) mild atrophy with rhytides; (2) moderate atrophy with exposed veins; and (3) serious atrophy with exposed tendons. Anatomic findings showed the existence of distinct superficial and deep fat compartments. The average fat grafting volume was 25.5 ml per hand dorsum administered in one or two procedures. Patients were monitored for 8.3 ± 2.6 months. After 6 months, a volume gain was found in all patients. The degree of aging was significantly reduced. The majority of patients (94.1%) were satisfied with their results. CONCLUSIONS: This study provides the anatomic and clinical basis for targeted restoration of the physiological fat volume in the hand dorsum with high satisfaction rates. LEVEL OF EVIDENCE: 4.

Anatomical Study of Temporal Fat Compartments and its Clinical Application for Temporal Fat Grafting.

BACKGROUND: Low satisfaction rates and severe complications are two major limitations for temporal hollowing augmentation using autologous fat grafting. Despite fat compartments in temporal region have been reported, its clinical applied anatomy for fat grafting have not been the subject of studies that show its benefits objectively and statistically. OBJECTIVES: To investigate temporal fat compartments and relative neurovascular structures in cadavers, developing a safe and effective fat grafting technique for temporal hollowing augmentation. METHODS: The study was conducted on 8 cadavers (16 temples). The tissue layers, fat compartments, ligaments, and neurovascular structures in the temporal region were analysed. The variables were the number and location of sentinel veins, perforator vessels of the middle temporal vein. Measurements were taken with a digital calliper. RESULTS: Two separate fat compartments, the lateral temporal-cheek fat compartment and lateral orbital fat compartment, were found in the subcutaneous layer, and two separate septum compartments, the upper and lower temporal compartment, were found in the loose areolar tissue layer. One sentinel vein and 1 to 6 perforator vessels were found to travel through the subcutaneous tissue layer, traverse the overlapping tissue layers in the lower temporal septum region, and finally join in the middle temporal vein. CONCLUSIONS: The four fat compartments in the temporal region are ideal receipt sites for fat grafting. The medial border of the junction of the hairline and temporal line is a safe and effective cannula entry site for temporal fat grafting. The anterior half of the lower temporal compartment is a "zone of caution" for temporal fat grafting.

Facial Contouring by Targeted Restoration of Facial Fat Compartment Volume: The Midface.

BACKGROUND: Recent anatomical findings have suggested that facial fat distribution is complex and changes with age. Here, the authors developed a grafting technique based on the physiologic distribution and volume changes of facial fat compartments to achieve a youthful and natural-appearing face. METHODS: Forty cadaveric hemifaces were used for the dissection of fat compartments and neurovascular structures in the midface area. Seventy-eight patients were treated for cheek atrophy using the authors' targeted restoration of midface fat compartment volume. The outcome was evaluated by a two-dimensional assessment, malar lipoatrophy assessment, and a satisfaction survey. RESULTS: The medial and lateral parts of the deep medial cheek fat compartment were separated by a septum arising from the lateral border of the levator anguli oris muscle. The angular vein traveled between the deep medial cheek fat compartment and the buccal fat pad, 12 mm from the maxilla. A total volume of 29.3 ml of fat was grafted per cheek for each patient. A 12-month follow-up revealed an average volume augmentation rate of 27.1 percent. Pleasing and elevated anterior projection of the cheek and ameliorated nasolabial groove were still obvious by 12 months after the procedure. In total, 95.2 percent of the patients were satisfied with their results. CONCLUSIONS: The present study provides the anatomical and clinical basis for the concept of compartmentally based fat grafting. It allows for the restoration of facial fat volume close to the physiologic state. With this procedure, a natural and youthful facial contour could be rebuilt with a high satisfaction rate. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

The second fat graft has significantly better outcome than the first fat graft for Romberg syndrome: A study of three-dimensional volumetric analysis.

BACKGROUND: Patients with congenital or acquired deformities always need fat graft at least twice to remodel facial contour. The purpose of this study was to objectively evaluate the outcomes of the first and second fat grafts for Romberg syndrome by using three-dimensional (3D) volumetric analysis. METHOD: A retrospective study was conducted using the medical records of 13 patients with Romberg disease who were treated with fat graft twice for facial filling. Patient and surgeon satisfactions were evaluated by comparing the preoperative and postoperative two-dimensional (2D) photographs. The preoperative and postoperative 3D images were analyzed with professional analysis software to calculate the volume discrepancy between them. RESULT: According to the 2D photographs, both patients and the surgeon were more satisfied with the cosmetic results of the second fat graft. There was no significant statistical difference in the injection volumes between the two surgeries (p = 0.1); however, the survival rate of the second fat graft (75.1% ± 7.7%) was much higher than that of the first (43.3% ± 11.1%) with a significant difference (p < 0.01). CONCLUSION: In this study, 3D images were used to objectively evaluate the survival rate of fat graft. The results showed that the second fat graft without any sophisticated procedures could acquire better cosmetic result and volume retention in Romberg syndrome. This study result could serve as a guide for clinical surgeons to forecast the outcome of sequential fat graft for patients with congenital or acquired deformities.