Two male patients with bifid rib-basal cell nevus-jaw cyst syndrome (BCNS) were admitted to Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College due to radiological findings of multiple low density shadows in the jaw. Clinical and imaging findings showed thoracic malformation, calcification of the tentorium cerebellum and falx cerebrum as well as widening of the orbital distance. Whole exon high-throughput sequencing was performed in two patients and their family members. The heterozygous mutations of c.C2541C>A(p.Y847X) and c.C1501C>T(p.Q501X) in PTCH1 gene were detected in both patients. Diagnosis of BCNS was confirmed. The heterozygous mutations of PTCH1 gene locus were also found in the mothers of the two probands. Proband 1 showed clinical manifestations of low intelligence, and heterozygous mutations of c.C2141T(p.P714L) and c.G3343A(p.V1115I) were detected in FANCD2 gene. Proband 2 had normal intelligence and no FANCD2 mutation. The fenestration decompression and curettage of jaw cyst were performed in both patients. Regular follow-up showed good bone growth at the original lesion, and no recurrence has been observed so far.
Humans ; Male ; Basal Cell Nevus Syndrome/diagnosis* ; Mutation ; Nevus ; Patched-1 Receptor/genetics* ; Pedigree ; Ribs/abnormalities*

OBJECTIVE: To explore the pathogenic variants and clinical classification of two fetuses with Short-rib thoracic dysplasia with or without polydactyly (SRTD). METHODS: With informed consent obtained, the phenotypic characteristics of the fetuses were comprehensively examined, and genomic DNA was extracted from fetal skin tissue and peripheral blood samples of the parents with conventional phenol-chloroform method. Whole exome sequencing (WES) was carried out on both fetuses, and the candidate variants were validated by Sanger sequencing. The pathogenicity of the candidate variants was analyzed using bioinformatic software VarCards, and the impact of the variants on the protein structure was predicted with Swiss-Pdb-viewer. RESULTS: Both fetuses were found to harbor compound heterozygous variants of the DYNC2H1 gene, including c.515C>A (p.Pro172Gln) and c.5983G>A (p.Ala1995Thr) in fetus 1, and c.5920G>T (pGly1974) and c.9908T>C (p.He3303Thr) in fetus 2. The parents of both fetuses were heterozygous carriers. CONCLUSION The compound heterozygous variants of the DYNC2H1 gene probably underlay the SRTD3 in the two fetuses.
Humans ; Fetus ; Chloroform ; Computational Biology ; Ethnicity ; Ribs

OBJECTIVE: This paper is aimed at investigating the efficacy of combining internal fixation using prefabricated rib-locking titanium plate with ultrasound-guided thoracic paravertebral nerve blockade in treating multiple rib fractures among the elderly. METHODS: Retrospective analysis of 221 elderly patients with multiple rib fractures treated from February 2016 to November 2020. According to whether surgery was performed, they were divided into the plate-blockage combination group (surgical group, 102 cases) and conservative treatment group (non-surgical group, 119 cases). The surgical group consisted of 58 males and 44 females aged from 60 to 85 years old, with an average of (67.2±3.6 ) years old, who suffered from 3 to 12 rib fractures with an average of (5.3±2.1) fractures. The non-surgical group consisted of 66 males and 53 females aged from 60 to 84 years old with an average of (66.8±3.2) years old, who suffered from 2 to 11 rib fractures with an average of(6.1±2.3) fractures. The clinical data, efficacies observed, and complications associated with both groups were compared and analyzed. RESULTS: There was no significant difference in preoperative clinical data between two groups (P>0.05), and all patients were discharged smoothly. Pulmonary infection (P=0.028), atelectasis (P=0.032), respiratory failure (P=0.026), time to get out of bed (P=0.040), time to fracture healing (P=0.035), length of hospital stay in the operation group (P=0.043), visual analogue scale (VAS) at 3 days (P=0.028), 5 days(P=0.032), and 7 days(P=0.019), maximal voluntary ventilation (MVV) at 3 months after surgery (P=0.042), forced expiratory volume in one second (FEV1)(P=0.035), and maximal voluntary ventilation at 6 months, the maximal voluntary ventilation(MVV)(P=0.021) and forced FEV1(P=0.026) were all significantly better than those in non-surgical treatment group. CONCLUSION For elderly patients with severe multiple rib fractures, the proposed plate-blockade combination can timely and effectively relieve pain, restore thoracic stability, shorten hospital stay, and reduce the incidence of complications such as pulmonary infections and acute respiratory distress syndrome(ARDS) compared with non-surgical treatments. Prefabricated rib-locking titanium plates have proved to demonstrate high clinical efficacy in treating multiple rib fractures among the elderly.
Male ; Female ; Humans ; Aged ; Middle Aged ; Aged, 80 and over ; Rib Fractures/etiology* ; Titanium ; Retrospective Studies ; Bone Plates/adverse effects* ; Fracture Fixation, Internal/adverse effects* ; Treatment Outcome ; Ultrasonography, Interventional/adverse effects* ; Nerve Block/adverse effects* ; Ribs

OBJECTIVE: To report on the clinical characteristics of a family of short-rib polydactyly syndrome type III and its pathogenic variants. METHODS: Muscle samples from the the third fetus was collected after the induction of labor, and peripheral blood samples of its parents and grandparents were also collected. Whole exome sequencing (WES) was carried out for the pedigree. Candidate variants were verified by Sanger sequencing of the family. RESULTS: The proband was found to harbor a c.9819+1G>A variant and a c.4625C>A variant of the DYNC2H1 gene, which were respectively inherited from its mother and father. Sanger sequencing verified that the family has fit the autosomal recessive inheritance. CONCLUSION The c.9819+1G>A and c.4625C>A variants of the DYNC2H1 gene probably underlay the short-rib polydactyly syndrome type 3 in the proband.
Child ; Cytoplasmic Dyneins/genetics* ; Humans ; Mutation ; Pedigree ; Ribs ; Short Rib-Polydactyly Syndrome/genetics*

OBJECTIVE: To compare the clinical effects of three different methods of binding multi-fold rib graft, iliac bone graft and titanium mesh graft in tuberculosis of thoracic vertebra by approach of transverse rib process. METHODS: A hundred and seven patients with tuberculosis of thoracic vertebra received surgical treatment from January 2010 to December 2016 were retrospectively analyzed. The patients were divided into three groups according different methods of bone graft. The surgical approach of the transverse rib process was used in all 107 patients, after thoroughly remove the necrotic tissue of tuberculosis, three different bone grafts were used respectively including iliac bone graft (36 cases, group A), binding multi-fold rib graft (35 cases, group B), titanium mesh bone graft (36 cases, group C). Perioperative indexes, the time required for bone graft during operation, intraoperation blood loss, the loss rate of the anterior edge of the lesion, Cobb angle, postoperative bone graft fusion time, spinal nerve recovery and Oswestry Disability Index were compared among three groups. RESULTS: All the patients were followed up for 13 to 24 months, and the operation time required for bone graft was (23.2±4.1) min in group A, (23.8± 4.4)min in group B, and (25.5±4.2) min in group C, with no statistically significant difference among three groups ( CONCLUSION The approach of transverse rib process for debridement of lesions can effectively treat tuberculosis of thoracic vertebra by binding multi-fold rib graft, iliac bone graft and titanium mesh graft, but binding multi-fold rib graft can effectively avoid iliac bone donor complications, and is an effective alternative to iliac bone graft, which is worth popularizing.
Bone Transplantation ; Humans ; Lumbar Vertebrae ; Retrospective Studies ; Ribs/surgery* ; Spinal Fusion ; Surgical Mesh ; Thoracic Vertebrae/surgery* ; Titanium ; Treatment Outcome ; Tuberculosis, Spinal/surgery*

Objective: To investigate the curative effect of rib cartilage framework supporting combined with local flap grafting for correction of cryptotia. Methods: Fourteen cases (nineteen ears) were corrected by rib cartilage framework supporting combined with local flap grafting method from January 2017 to March 2019. Part of the 7th rib cartilage was carved into a scalloped cartilage piece, which was implanted on the retroauricular cartilage to release and expand the deformed cartilage. A "M" incision was designed on the retroauricular skin to make the local flap grafting. Results: All corrected auricles were followed up for four months to three year and abtained satisfactory and stable appearance. In one case, the edge of the helix was broken two weeks after the operation, and well healed after repairing. Conclusions: The rib cartilage framework supporting combined with local flap grafting method can fully correct the deformity of cryptotia, and the long-term effect is satisfied. It can be an important complement to the classic methods.
Cartilage ; Ear, External/surgery* ; Humans ; Reconstructive Surgical Procedures ; Ribs ; Surgical Flaps

This research evaluated the clinical efficacy of three-wings rib plate in the treatment of multiple rib fractures and flail chest with mechanical analysis and clinical verification. The model of rib and three-wings rib plate was reconstructed. The contact simulation with pretension stress was applied to the plate's fixation, and it was found that the bearable stress of the rib fractures after fixation increased from the result which indicated a good fixation efficacy of the plate. Clinical data of 53 cases of rib fractures and flail chest treated with three-wings rib plate in Shanghai Pudong Hospital of Fudan University were retrospectively analyzed. After the operation, the pain of the patients was relieved. Postoperative CT reconstruction of the chest showed good restoration of the rib fractures, which verified the clinical efficacy of three-wings rib plate. The three-wings rib plate showed a high value in clinical use for treatment of rib fractures.
China ; Flail Chest/surgery* ; Fracture Fixation, Internal ; Humans ; Retrospective Studies ; Rib Fractures/surgery* ; Ribs

Objective To study the mechanism of rib fracture caused by landing on different parts of the trunk using finite element method, and to provide some new techniques and new ideas for the reconstruction of the whole process of falls from height. Methods The finite element method was used to study the rib fracture of human security model THUMS4.0 caused by landing on different parts of the trunk. Then the model was compared with actual cases and the mechanism of rib fracture caused by falls from height was analyzed from a biomechanical point of view. Results There were some differences in the stress and strain distribution as well as the rib fracture sites when different parts touched the ground. Ribs on both sides of the body were fractured when the front of the trunk touched the ground, and the fractures were mainly located in the junction of the ribs and costal cartilage and the midaxillary line area. When the right anterior part of the trunk touched the ground, rib fracture occurred first on the side that touched the ground, and rib fractures were mainly located in the area from the right midaxillary line to the posterior axillary line, and junction of ribs on both sides and costal cartilage. When the back of the trunk touched the ground, the fracture sites were mainly located on the back of the ribs on both sides. When the right posterior part of the trunk touched the ground, multiple rib fractures were likely to occur in the parts that touched the ground. The plastic strains were mainly concentrated at the fracture sites, while the von Mises stresses were not only concentrated at the fracture sites, but also at other sites. Conclusion There are some differences in rib fracture location sites and injury mechanisms when different parts of the trunk touch the ground.
Accidental Falls ; Biomechanical Phenomena ; Finite Element Analysis ; Humans ; Rib Fractures/etiology* ; Ribs ; Torso

SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome includes a variety of inflammatory bone disorders associated with dermatologic pathology. A 57-year-old female presented with pustulosis on both hands that had persisted for several months. She also had lower back pain without trauma history. On physical examination, tenderness on her lower back and left anterior chest wall pain were found, and claudication was observed. Radiological studies including computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET)-CT showed endplate lytic changes in her spine, a focal hypermetabolic lesion in a left rib, and costochondral junction. These findings raised doubt on the presence of metastatic bone lesions, and there was no indication for primary cancer after a complete medical checkup. Palmoplantar pustulosis was well controlled by treatment with acitretin. The osteitis associated with SAPHO syndrome usually presents as osteosclerosis, while reports on osteolytic lesions are rare. We report herein a rare case of SAPHO syndrome associated with bone lesions resembling bone metastasis.
Acitretin ; Acne Vulgaris ; Acquired Hyperostosis Syndrome ; Female ; Hand ; Humans ; Hyperostosis ; Low Back Pain ; Magnetic Resonance Imaging ; Middle Aged ; Neoplasm Metastasis ; Osteitis ; Osteosclerosis ; Pathology ; Physical Examination ; Positron-Emission Tomography ; Ribs ; Spine ; Thoracic Wall

OBJECTIVE: Corpectomy of the first lumbar vertebra (L1) for the management of different L1 pathologies can be performed using either an anterior or posterior approach. The aim of this study was to evaluate the usefulness of a retroperitoneal extrapleural approach through the twelfth rib for performing L1 corpectomy.METHODS: Thirty consecutive patients underwent L1 corpectomy between 2010 and 2016. The retroperitoneal extrapleural approach through the 12th rib was used in all cases to perform single-stage anterior L1 corpectomy, reconstruction and anterior instrumentation, except for in two recurrent cases in which posterior fixation was added. Visual analogue scale (VAS) was used for pain intensity measurement and ASIA impairment scale for neurological assessment. The mean follow-up period was 14.5 months.RESULTS: The sample included 18 males and 12 females, and the mean age was 40.3 years. Twenty patients (67%) had sensory or motor deficits before the surgery. The pathologies encountered included traumatic fracture in 12 cases, osteoporotic fracture in four cases, tumor in eight cases and spinal infection in the remaining six cases. The surgeries were performed from the left side, except in two cases. There was significant improvement of back pain and radicular pain as recorded by VAS. One patient exhibited postoperative neurological deterioration due to bone graft dislodgement. All patients with deficits at least partially improved after the surgery. During the follow-up, no hardware failures or losses of correction were detected.CONCLUSION: The retroperitoneal extrapleural approach through the 12th rib is a feasible approach for L1 corpectomy that can combine adequate decompression of the dural sac with effective biomechanical restoration of the compromised anterior load-bearing column. It is associated with less pulmonary complication, no need for chest tube, no abdominal distention and rapid recovery compared with other approaches.
Asia ; Back Pain ; Chest Tubes ; Decompression ; Female ; Follow-Up Studies ; Humans ; Lumbar Vertebrae ; Male ; Osteoporotic Fractures ; Pathology ; Ribs ; Spinal Fusion ; Spine ; Transplants ; Weight-Bearing