Analysis of intercellular communication patterns in facioscapulohumeral muscular dystrophy based on single-cell nuclear transcriptome sequencing / 国际生物医学工程杂志

Objective:To analyze the patterns of intercellular communication in facioscapulohumeral muscular dystrophy (FSHD) by single-cell nuclear transcriptome sequencing.Methods:Bilateral asymmetrical lesions mouth orbicular muscle of two patients with FSHD and mouth orbicular muscle of two healthy patients were selected. Six samples were obtained, and were divided into control group, mild group and severe group. The normal orbicularis muscle sample was collected from 2 healthy individuals (the control group). The muscle samples in the mild group were from two patients with relatively normal muscle sides, and the samples in the severe group were from two patients with more severe muscle damage sides. Single-cell nuclear transcriptome sequencing was performed on all cells of the three groups. Reduced dimension clustering and cell definition were performed to identify differentially expressed genes and enrichment pathways. Intercellular communication patterns among major cell types and key signaling pathways were explored by cellular communication analysis.Results:Differential gene expression analysis of FSHD bilateral muscle samples identified 46 functionally differentially expressed genes associated with the disease in different cell types, related to apoptosis, oxidative stress, immune inflammation, and muscle function. Intercellular communication was generally increased in the severe group. Fibro-adipogenic progenitors (FAPs) and macrophages are important signaling sources in the abnormal muscle microenvironment of FSHD and are closely associated with disease progression. There are six unique signaling pathways in the mild group, including bone morphogenetic proteins (BMP), transforming growth factor-β (TGF-β), CXC motif chemokine ligand (CXCL), adhesion G protein-coupled receptor E5 (ADGRE5), interleukin-16 (IL-16), and wingless-type MMTV integration site family (WNT) signaling pathways. These signaling pathways are mainly involved in the interaction between macrophages, FAPs, and adipocytes and may be involved in the regulation of fat deposition and fibrosis changes in the diseased muscle.Conclusions:Single-cell nuclear transcriptome sequencing provides a relatively comprehensive pattern of intercellular communication between key cell types in FSHD, providing an appropriate reference for understanding the intercellular regulatory mechanisms of the FSHD muscle microenvironment.

Clinical effects of pretarsal orbicularis-tarsus fixation technique in double eyelidplasty / 中华医学美学美容杂志

Objective:To evaluate the aesthetic outcome of the pretarsal orbicularis-tarsus fixation technique in incisional double eyelid blepharoplasty.Methods:Postoperative results were evaluated from 798 patients who underwent the orbicularis-tarsus fixation blepharoplasty from January 2015 to December 2018. Based on an incisional maneuver, soft tissue was carefully removed to expose the superior edge of tarsus, then the pretarsal orbicularis oculi muscle was anchored on the tarsus. For skin closure, both skin margins, a small bite of subcutaneous tissue and the pretarsal fascia were interruptedly sutured to enhance cicatricial adhesion.Results:All patients successfully underwent double eyelidplasty using this modified technique. The follow-up period ranged from two to forty-six months, with a mean period of twenty months. Ninety-six percent of the patients were satisfied with postoperative outcomes. Twenty-two cases of palpebral fold asymmetry and ten cases of unsatisfactory fold formation near the inner canthus were encountered. However, all the defects had been well improved by minor revisions. No supratarsal crease drooping or disappearing, suture spitting out, scar hypertrophy or crease depression were observed postoperatively.Conclusions:The orbicularis-tarsus fixation method is a reliable technique for double eyelid plasty. It enables high feasibility and long-lasting result, with lower risk of postoperative complications.

The review of common external birth defects / 中华整形外科杂志

Birth defects is one of the most important problems of human society. External birth defect is one of the major research fields of plastic surgery. This kind of disorders damages the body image of patients in mild or severe way, affects severely the social confidence of the patients themselves and their families. we summarized the research progress of the common external birth defects (the incidence top 10) from the aspects of pathogenesis, prevention, treatments and so on, in order to provide reference materials to the prevention and treatment of them.

Application of autologous platelet-rich plasma in the repair of alveolar cleft / 中华整形外科杂志

Alveolar cleft is a congenital maxillofacial deformity, associated with cleft lip and palate. Autologous bone transplantation is the gold standard for alveolar cleft repair. However, this method has many shortcomings. Autogenous platelet-rich plasma (PRP) is concentrated platelet, obtained by the centrifugation of fresh autologous whole blood. After activation, a variety of highly concentrated growth factors could be quickly released. Then the PRP gel is formed. It is able to locally conglutinate transplanted bone particles, and prevent the displacement and loss of them. It also could repair tissue defect, prevent platelet loss, promote the platelet secreting growth factors for a long time. The combination of PRP and autologous bone transplantation, to a certain extent, could make up for the limitations of bone transplantation. Therefore, the concept, preparation, application, progress, mechanism and advantages of PRP in alveolar cleft repair were detailedly reviewed.

The three-dimensional digitalized muscle anatomy research of one stillbirth with cleft palate based on Micro-CT / 中华整形外科杂志

Objective@#The cadaveric specimens stained with iodine-potassium iodide can show the fine structure of muscles by Micro-CT scanning. A specimen with cleft palate was scanned using this technique to explore the relationship between the muscle fibers of pharyngeal muscles in order to guide the muscle reconstruction in cleft palate repair, so as to understand the lingual pathology secondary to cleft palate.@*Methods@#One unclaimed 28-week aborted stillbirth, diagnosed as Ⅱ-degree cleft palate, was dissected.The anatomic structure between orbital floor plane and mouth bottom plane was saved, and soaked in 4% for maldehyde for 8 hours. Thereafter, the subject was soaked in 3.75% iodine-potassium iodide for 7 days for staining. The stained specimens were scanned with Micro-CT. The muscle fibers were drawn in the exported DICOM images, for three-dimensional muscle reconstruction.@*Results@#The main muscles of velopharynx were located in the tomographic image and the three-dimensional reconstructed model, including: the levator muscle of palatine velum, the tensor velipalatini, the palatopharyngeus muscle, the palatoglossus muscle, and the upper part of the superior pharyngeal constrictor. Some local anatomical features of the muscles were also found: (1)The tensor velipalatini has a branch ended at the lateral pharyngeal wall.(2)The superior pharyngeal constrictor has multiple connections with the levator muscle of palatine velum, the tensor velipalatini, the palatopharyngeus muscle.(3)There was no obvious muscle fiber crossing between the internal muscles of the cleft palate. The muscle of uvula was not found either.@*Conclusions@#With the application of high-resolution Micro-CT technology, new branches of pharyngeal muscles and crossings of muscles can be recognized. In the cleft palate specimen, the main functional muscles of pharyngeal are mainly associated with superior pharyngeal constrictor. The muscles in the palate and the pharynx are interrelated and form a three-dimensional " velopharyngeal muscle complex" .

Trilobate flap combined with reconstruction of nasal-labial Muscle Tension Lines Group theory in unilateral cleft lip repair / 中华整形外科杂志

Objective@#This study is to investigate the outcome of unilateral cleft lip repairment using trilobate flap and nasal-labial muscle tension system reconstruction.@*Methods@#From January 2015 to December 2017, 264 children with unilateral cleft lip were performed cheiloplasty. For all the patients, trilobate flap was adopted. The tension lines group among nasal-labial muscles were reconstructed following a three-dimensional pattern. Long-term results were evaluated using postoperative photos. Three measurements were collected, to compare the nasolabial contour on the cleft side and noncleft side.@*Results@#Six to 12 months follow-up was completed in 112 patients. Asymmetry percentage of lip height was (2.98±1.65)%, while nostril width ratio was 1.02±0.05, and nostril height ratio was 0.94±0.04. Aesthetic contour of vermillion and philtrum were satisfied.@*Conclusions@#Trilobate flap technique combined with the reconstruction of nasal-labial muscle tension system have reliable effect on unilateral cleft lip repair. With proper application, satisfactory and stable outcomes can be achieved.

Analysis of the mechanism of lesser-form cleft lip: based on the Muscle Tension Lines Group theory / 中华整形外科杂志

Due to insufficient understanding of the mechanism of the lesser-form cleft lip in clinical practice, the " muscle anatomical reduction" method, which is the general treatment option for the typical cleft lip, is also preferred for the treatment of lesser-form cleft lip, and the repair effect is often far from the patient′s expectation. Based on the anatomical study and clinical observation of the lesser-form cleft lip in more than ten years, the author systematically describes the characteristics regarding the disarrangement of muscle and explains the confusing clinical features of the lesser-form cleft lip. In addition, the pathological mechanism of the lesser-form cleft lip is further classified, and the muscle biomechanical biomimetic repair technique of this defect-" Yin′s nasolabial muscle frame" is proposed to guide clinical operations. This article preliminarily summarizes the author′s new understanding of the lesser-form cleft lip in recent years. The nasolabial Muscle Tension Lines Group(MTLG) theory is applied to analyze and solve puzzles in the lesser-form cleft lip. This process itself also serves as a clinical practice test of the MTLG theory.

First auxiliary muscle tension line group reconstruction for nostril sill repair in cleft lip patients / 中华整形外科杂志

Objective@#This study is to repair nostril sill deformity in the cleft lip patients by reconstructing the first auxiliary muscle tension line group and to assess the therapeutic outcome.@*Methods@#437 cleft lip patients with nostril sill deformity underwent the surgery from January 1, 2012 to November 1, 2016.They were treated using the technique of first auxiliary muscle tension line group reconstruction to repair the deformity. Aesthetic correction evaluations were rated by the GAIS. Random digit was used to randomly select 24 patients during the follow-up for three-dimensional measurement and analysis. The preoperative and postoperative symmetry of the nostril sills were evaluated by paired t test.@*Results@#Mucosal ischemia or wound infection occurred in 11 cases, left obvious scar on the nostril floor. Surgical incisions of the other patients were primary healing. After 6 months to 3 years follow up, GAIS questionnaires of 378 patients demonstrated that 84% patients reported great or moderate improvement of nostril sills. Three-dimensional measurements of 24 patients suggested that there were no significant differences of the nostril sill and the nasal ala between the cleft side and the normal side.@*Conclusions@#First auxiliary tension line group reconstruction, which is to restore biomechanical balance rather than merely increase muscle volume, is an effective method of nostril sill repair in the cleft lip patients. Post-operatively, the patients achieved a stable and natural nostril sill, a middle columella, as well as a narrowed nasal ala.

Differential expression of miR-146a-5p in giant congenital melanocytic nevi, medium-sized congenital melanocytic nevi and normal skin / 中华整形外科杂志

Objective@#To investigate the differences in miRNA expression levels between giant congenital melanocytic nevi, medium-sized congenital melanocytic nevi and normal skin.@*Methods@#The experiment was divided into three groups: giant congenital melanocytic nevi group, medium-sized congenital melanocytic nevi group and normal skin group, with ten samples in each group. Firstly, 3 samples of each group were detected by Agilent miRN Amicroarray to screen the different miRNAs between different groups. 5 differential miRNAs related to MAPK, Wnt, NF-kB signaling pathways were selected for further verification: miR-146a-5p, miR-140-5p, miR-106b-5p, miR-17-5p, and miR-483-5p. miRNA expression levels were measured using real-time quantitative PCR (Taqman) in ten clinical samples from each group. .Experimental data were analyzed using SPSS 22.0.@*Results@#A total of 23 differential miRNAs between congenital melanocytic nevi and normal skin were found by miRNA microarray detection. The results of real-time PCR showed that miR-146a-5p expression was significantly different between the three groups: giant congenital melanocytic nevi VS medium-sized congenital melanocytic nevi (P=0.003); giant congenital melanocytic nevi VS normal skin (P=0.000); medium-sized congenital melanocytic nevi VS normal skin (P=0.013). There was no statistically significant difference in the expression of the other four miRNAs between the 3 groups.@*Conclusions@#The expression of miR-146a-5p is increased in congenital melanocytic nevi, especially in giant congenital melanocytic nevi, which may be related to the proliferation and senescence of melanocytes in different tissues.

Volumetric measurement of alveolar bone defect / 中华整形外科杂志

Objective@#Explore the method for volumetric measurement of alveolar bone defect.@*Methods@#This study applied 2 advanced preoperative volume measurement methods: three-dimensional (3D) printing and computer-aided engineering (CAE). Twenty-six unilateral alveolar cleft patients were enrolled in this study from April 2015 to December 2016. Their computed tomographic data were sent to 3D printing and CAE software. A simulated graft was used on the 3D-printed model, and the graft volume was measured by water displacement. The volume calculated by CAE software used mirror-reverses technique.@*Results@#The volume of alveolar bone defect could be detected by both methods. The average volume of the simulated bone grafts by 3D-printed models was 1.61 ml, a little higher than the mean volume of 1.60 ml calculated by CAE software. The difference between the 2 volumes was from -0.34 ml to 0.54 ml. The paired Student t test showed no statistically significant difference between the volumes derived from the 2 methods.@*Conclusions@#This study demonstrated that the volume of alveolar bone defect is about 1.6ml in unilateral alveolar cleft patients aged 9-12 years. The mirror-reversed technique by CAE software is as accurate as the simulated operation on 3D-printed models. These findings further validate the use of 3D printing and CAE technique in alveolar defect repairing.

Functional repair of cleft lip: from anatomical resetting to biomechanical simulation / 中华口腔医学杂志

We are no longer entangled in the anatomical resetting of the labial-nasal muscle itself, but the sight to the muscle fiber level, to study the relationship between the muscle fiber force line and the labial-nasal shape. In the past ten years, we focused on the lip of nasal muscle fiber anatomy, imageology and biomechanics, carried out a series of research works, realized the three-dimensional (3D) visualization of small labial-nasal muscle fiber, established configuration models of normal and cleft lip with nasal muscle fibers, and put forward the hypothesis of naso-labial muscle tension band. According to the biomechanical parameters of lip nasal muscle, cartilage, skin and subcutaneous tissue, we initially established a biomechanical model elaborating the relationship between labial-nasal muscle tension lines and surface morphology; we summed up three muscle tension group which determines labial-nasal contour, explained the biomechanical mechanism in cleft lip and various lip nasal deformities, and realized the possibility to freely change the 3D labial-nasal contour by lip nasal lip nasal muscle tension theory; Finally we carried out clinical validation in clinical treatment of cleft lip, achieved the effect of detail cleft lip repairing.

Lengthening the columella of severe secondary bilateral cleft lip nasal deformity by using skin cartilaginous tissue flaps on superior border of bilateral nostril / 中华医学美学美容杂志

Objective To introduce the method of lengthening the columella of severe secondary bilateral cleft lip nasal deformity by using skin cartilaginous tissue flaps on the superior border of bilateral nostril.Methods We adopted the method of using the skin cartilaginous tissue flaps on the superior border of bilateral nostril associated with alar cartilages reduction to lengthen the columella in 40 patients with severe secondary bilateral cleft lip nasal deformity.All patients were followed up for 5-28 months,with an average period of 15.3 months.The treatment outcomes were evaluated by a questionnaire in postoperative follow-up.Results All the 40 patients had achieved satisfactory lengthening of columella and there were no major complications.The questionnaire results showed 36 patients with excellent and 4 patients with good.Conclusions Lengthening the columella of severe secondary bilateral cleft lip nasal deformity by using skin cartilaginous tissue flaps on the superior border of bilateral nostril is a relatively simple and safe method with good effect.

Application of team approach and key techniques of cleft lip and palate / 华西口腔医学杂志

The development of an expert consensus based on specific domestic situations will provide practical guidance to the efforts aiming at improving cleft care in China. The team approach of twenty-one cleft centers were pooled together, covering pre-surgical orthopedics, primary surgical repair, orthodontic treatment, alveolar bone graft, secondary deformity correction, palatal fistulae repair, the diagnosis and treatment of velopharyngeal incompetence, speech therapy, otitis media management, and skeletal deformity correction. Agreement was achieved among the authors concerning the application of critical surgical and non-surgical techniques. The ambition of this consensus is to introduce more clinicians to the revolution of sequential treatment of clefts, and form the basis for a more comprehensive cleft care manual in the future.

Characteristics of maxillary morphology in unilateral cleft lip and palate patients and skeletal class Ⅲ patients compared to normal subjects / 中华医学美学美容杂志

Objective To investigate features of maxillary morphology in unilateral cleft lip and palate (UCLP) with maxillary retrusion and the dissimilarities of retruded maxilla.Methods Craniofacial measurements were done in 32 UCLP adult patients with maxillary retrusion (GC), 24 adult patients in class Ⅲ (GⅢ), and 32 healthy adults (GN).The CT slice data was reconstructed into a 3D video model and measured by Mimics 16.01.Results The maxillary volume (GM) and the volume composed of maxilla and maxillary sinuses (GT) were significantly smaller (P<0.05) in GC.The anterior and posterior parts of the maxillary length (A1-P3M⊥CP and P3M-P6M⊥CP) and overall maxillary length(A1-P6M⊥CP)at the dental level were all significantly reduced (P<0.05).There was no significant difference of the distances of A1⊥CP between the GC and GⅢ groups, while the P3M-CP and P6M-CP in the GⅢ group were significantly shorter (all P<0.05).The anterior and overall maxillary length at the dental level (A1-P3M⊥CP and A1-P6M⊥CP) in the GC group was significantly smaller than that in the GⅢ group (all P<0.05).Conclusions The decreased prominence of maxillary complex could be caused by the shortened maxillary length in UCLP patients;the posterior position of the maxilla is more obvious than that of GC group in class Ⅲ patients.

Correcting the secondary bilateral cleft lip deformities using an innovative partial-thickness musculomucosal pedicle cross-lip flap / 中华医学美学美容杂志

Objective According to the fine artery anatomy of the lower lip, we developed an innovative partial-thickness myocutaneous flap based on the vascular network of the submucosal and subcutaneous layers of the lower lip.We attempted to treat the secondary bilateral cleft lip deformities using this innovative cross-lip flap.Methods From July 2009 to June 2015, this new technique was used in 98 patients with secondary bilateral cleft lip deformities.The central defects usually occurred in these patients.The defects were reconstructed partially or completely according to the severities of the defects.The operative procedures were as follows: The split flap was elevated from the posterior portion of the oris orbicularis muscle after the inferior labial arteries were divided.Then the partial-thickness flap was rotated 180 degrees horizontally and inverted 180 degrees upward to the upper lip defect.Results All 98 musculomucosal pedicle flaps were viable.The upper lips were reconstructed according to the severities.Conclusions This myocutaneous cross-lip flap with musculomucosal-pedicle has a more reliable blood supply, better flexibility and plasticity.It is an effective method for aesthetic reconstruction for the secondary bilateral cleft lip deformities.

Outcome of double-cut correction on secondary deformity after unilateral cleft lip repair with nasolabial muscle reconstruction / 中华医学美学美容杂志

Objective To investigate the surgical methods and effect of double-cut nasolabial muscle directional three-dimensional reconstruction on the secondary deformity of unilateral cleft lip repair.Methods We first increased a contralateral vermilion secondary incision based on the nasolabial muscle directional three-dimensional reconstruction, without damaging the contralateral white lip skin, via suturing both sides of nose wings bundle of nose outside corner under the columella muscle, and overlapping suturing both sides of the orbicularis muscle flap, and then rebuilt and took shape of the nest and the crest.Results All incisions healed well in 18 patients, all nasal deformities were corrected better than the traditional methods, with the nasal base plump, the nasal sill formed close to the contralateral side, and rebuild the philtrumdimple and philtrum crest, with clear appearance and symmetrical form.A good appearance was obtained on the both sides of nostril, nasal base and the nasal sill, and the effect of preoperative design achieved.Conclusions Both sides of the nostrils size, nasal sill and shape are almost perfectly symmetrical, and the double-cut nasolabial muscle directional three-dimensional reconstruction is suitable for repairing the secondary deformity after unilateral cleft lip repair.

Classification and operation in the treatment of maxillary retrusion of adult patients with cleft lip and palate / 中华整形外科杂志

<p><b>OBJECTIVE</b>To classify the patients with cleft lip and palate who need orthognathic surgery and to propose the corresponding operations.</p><p><b>METHODS</b>From January 2005 to May 2015, 121 patients with cleft lip and palate diagnosed as maxillary retrusion were treated by orthognathic surgery. Inclusion criteriar: (1) male aged over 16, female aged over 14; (2) diagnosed as non-syndromic cleft lip and palate without systemic disease and other genetic diseases; (3) without previous orthodontic and orthognathic treatment; (4) having no other craniofacial malformation. Maxillary features and repaired types were recorded.</p><p><b>RESULTS</b>93 patients were included and divided into two categories depended on the dental crowding. Class I: the teeth quantity and bone quantity is coordinated, space analysis ≤ 4 mm (mild dental crowding). The forward distance of maxillary less than 6 mm was defined as Class I a (36 cases) more than 6 mm as Class I b (28 cases). Class II: the teeth quantity and bone quantity is not coordinated, space analysis > 4 mm ( moderate or severe dental crowding). After the simulation of distraction osteogenesis, the anterior crossbite was corrected defined as Class II a (23 cases), not corrected defined as Class II b (6 cases). Class I a were corrected by conventional orthognathic surgery. While Class I b were corrected by Le Fort I maxillary advancement using distraction osteogenesis. Class II a were repaired just by anterior maxillary distraction. While Class II b need to combine conventional orthognathic surgery with anterior maxillary distraction. All the patients were satisfied with the treatment effect.</p><p><b>CONCLUSIONS</b>The patients of cleft lip and palate with maxillary retrusion who need orthognathic surgery can be classified as the method mentioned above, and then choose the appropriate operations.</p>

Nasolabial muscle finite-element study and clinical application / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the nasolabial muscle anatomy and biomechanical characteristics.</p><p><b>METHODS</b>Micro-computed tomography scan was performed in 8 cases of spontaneous abortion fetus lip nasal specimens to construct a three-dimensional model. The nasolabial muscle structure was analyzed using Mimics software. The three-dimensional configuration model of nasolabial muscle was established based on local anatomy and tissue section, and compared with tissue section. Three dimensional finite element analysis was performed on lip nasal muscle related biomechanics and surface deformation in Application verification was carried out in 263 cases of microform cleft lip surgery.</p><p><b>RESULTS</b>There was close relationship between nasolabial muscle. The nasolabial muscle tension system was constituted, based on which a new cleft lip repair surgery was designed and satisfied results were achieved.</p><p><b>CONCLUSIONS</b>There is close relationship among nasolabial muscle in anatomy, histology and biomechanics. To obtain better effect, cleft lip repair should be performed on the basis of recovering muscle tension system.</p>

The progress of the repair of nostril sill deformity in patients with cleft lip / 实用口腔医学杂志

The fine anatomy of the nostril sill has a great deal of variability among the individuals.The nostril sill deformity is included in the nasal deformities after cleft lip repair,which has been paid more attention.In this article,we review the anatomy of the nostril sill,the features of nostril sill in cleft lip deformities,and the techniques of the nostril sill deformity repair.

Advancement of maxillary anterior segment by distraction osteogenesis for severe maxillary retrusion in cleft lip and palate / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Maxillary anterior segmental distraction osteogenesis (MASDO) is a recently used method for correction of severe maxillary retrusion in cleft lip and palate (CLP) patients. In this article, we evaluated the feasibility of MASDO using rigid external distraction (RED) and rapid orthodontic tooth movement to correct severe maxillary retrusion in CLP patients.</p><p><b>METHODS</b>Fourteen male and five female complete CLP patients between the ages of 18 and 22 years (mean age 19.7 years) at the time of distraction, with severe maxillary retrusion, were treated with the rigid external distraction (RED) device after maxillary anterior osteotomy. Rapid orthodontic tooth movement was started one week after the MASDO. Standard profile photographic, cephalometric films were obtained preoperatively and after therapy. Sella-nasion-point A (SNA) and Sella-nasion-point B (SNB) angles were measured to reflect changes in maxillary and mandibular position, and the distance between anterior nasal spine and posterior nasal spine (ANS-PNS) was measured to represent the maxillary dental arch length.</p><p><b>RESULTS</b>The SNA angle increased from an average of 74.6° (range 73.0°-78.0°), preoperatively, to 83.4° (range 78.6°-88.0°) after the RED was removed (P < 0.01). All cases of severe maxillary retrusion were improved. Nine patients' profiles became harmonious after therapy. One patient had a bimaxillary protrusion deformity and needed further surgery. The regenerate alveolar crest and edentulous space on both segments was almost completely eliminated after rapid orthodontic tooth movement.</p><p><b>CONCLUSION</b>MASDO with the RED system and rapid orthodontic tooth movement is a successful way of correcting severe maxillary retrusion in CLP patients.</p>