Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity

The clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo‐vertebral anomalies. RIPPLY2 biallelic pathogenic variants were described in two distinct cervical spine malformation syndromes: Klippel–Feil syndrome and posterior cervical spine malformation. RIPPLY2 is involved in the determination of rostro‐caudal polarity and somite patterning during development. To date, only four cases have been reported. The current report aims at further delineating the posterior malformation in three new patients. Three patients from two unrelated families underwent clinical and radiological examination through X‐ray, 3D computed tomography and brain magnetic resonance imaging. After informed consent was obtained, family‐based whole exome sequencing (WES) was performed. Complex vertebral segmentation defects in the cervico‐thoracic spine were observed in all patients. WES led to the identification of the homozygous splicing variant c.240‐4T>G in all subjects. This variant is predicted to result in aberrant splicing of Exon 4. The current report highlights a subtype of cervical spine malformation with major atlo‐axoidal malformation compromising spinal cord integrity. This distinctive mutation‐specific pattern of malformation differs from Klippel–Feil syndrome and broadens the current classification, defining a sub‐type of RIPPLY2‐related skeletal disorder. Of note, the phenotype of one patient overlaps with oculo‐auriculo‐vertebral spectrum disorder.     

镍钛记忆合金环抱器治疗多发性肋骨骨折的临床研究

目的：探讨镍钛记忆合金环抱器治疗多发性肋骨骨折的疗效。方法100例多发性肋骨骨折患者均采用镍钛记忆合金环抱器行手术治疗。结果患者均无感染,骨折不愈合及内固定松动、滑脱等并发症发生;术后5个月~12个月取出内固定,骨折部位无炎症反应,心肺功能恢复较好。结论镍钛记忆合金环抱器呈现出良好的组织相容性,手术操作简便、创伤小、并发症少,是一种较为理想的治疗多发性肋骨骨折的方法。     

The Diagnostic Accuracy of Ultrasonography for the Diagnosis of Rib Fractures in Patients Presenting to Emergency Department With Blunt Chest Trauma

BackgroundRib fractures are the most common complications of blunt chest trauma (BCT). Computed tomography (CT) is the modality of choice for BCT, but with several disadvantages. Ultrasonography (US) is an inexpensive, readily available, and relatively harmless imaging alternative. However, a direct comparison of the sonographic evaluation of the rib as a whole with CT as a reference has not been performed to date.ObjectiveThis study aimed to compare the diagnostic accuracy of US with CT for the detection of rib fractures in patients who presented to emergency department (ED) with BCT.MethodsWe included a convenience sample of adult patients who presented to the ED with thoracic pain after BCT in the last 24 h in this prospective, observational, diagnostic accuracy study. The diagnostic utility of US performed by an emergency physician was compared with thorax CT.ResultsThe final study population included 145 patients. The diagnostic accuracy of US was 80% with a sensitivity of 91.2% and specificity of 72.7% for the detection of any rib fracture (positive likelihood ratio 3.4 and negative likelihood ratio 0.12). If we considered each rib separately, the sensitivity of US decreased to 76.7% and specificity increased to 82.7% (81.3% accuracy).ConclusionsA negative US of the site of the highest tenderness and neighboring ribs in a patient with BCT who presented to the ED with lateralizing pain decreases the possibility of a rib fracture significantly. However, a positive US performs poorly to specify the exact location and number of the fractured ribs.     

加速康复外科和传统外科在肋骨骨折围手术期的应用比较

目的：比较加速康复外科（fast track surgery,FTS）理念和传统外科方法在肋骨骨折围手术期的应用。方法选择肋骨骨折患者84例,围手术期应用加速康复理念42例（FTS组）,应用传统外科手术42例（传统组）,将两组手术后疼痛VAS评分、血清白蛋白检测结果、肠鸣音恢复时间、首次通气时间、术后并发症（消化道症状、消化性溃疡、胸腔出血、肺不张、肺部感染、胸腔积液、心脏并发症、泌尿系统并发症、切口感染、深静脉血栓）发生率、住院时间及住院总费用、患者满意度等进行比较。结果 FTS组术后疼痛VAS评分较传统组低,血清白蛋白较传统组高,肠鸣音恢复时间及首次通气时间提前,术后并发症发生率较低,住院时间缩短,住院费用降低,患者满意度提高,两组比较差异有统计学意义（P＜0．05）。结论 FTS应用于肋骨骨折围手术期患者的术后疼痛VAS评分低,营养状况较好,肠道恢复较早,术后并发症发生率较低,住院时间缩短,治疗费用降低,患者满意度提高,值得进一步推广。     

Vascularized Ribs in the Treatment of Posterior Instrumentation Infection after Thoracic Vertebrectomy. Case Report

Isolated vertebral mestastases can be successfully treated by surgical removal of the affected vertebral body and stabilization with alloplastic material. The bone union between the upper and lower vertebra is expected, yet a relatively high rate of a non-union has been reported. In case of infection, bone consolidation is altered, and removal of alloplastic material is recommended, which decreases spinal stability and is a devastating complication.This case report of delayed infection and exposure of posterior hardware after thoracic vertebrectomy without an interbody osseous union, authors present a successful treatment with vascularized rib flaps through an anterior approach followed by hardware removal.     

镍钛合金抓握式接骨板内固定治疗多发性肋骨骨折50例临床分析

探讨采用镍钛合金抓握式接骨板对多肋骨折内固定治疗的临床效果。方法回顾性分析50例多肋骨折患者使用镍钛合金抓握式接骨板行内固定治疗的临床资料。结果术后胸痛显著减轻，胸廓形状恢复正常，反常呼吸消失，呼吸困难显著改善；术后2月复查，所有患者胸片示骨折完全愈合，内固定无松动、脱落及断裂，胸廓无畸形。所有患者均获随访2-14个月，平均9个月，均未出现并发症。结论应用镍钛合金抓握式接骨板内固定治疗多肋骨折，手术操作简单方便、创伤小、组织相容性好，固定牢靠，并发症少，临床效果满意。     

Segmentation defects of the human axial skeleton without dysostoses or skeletal dysplasias

The incidence and associations of axial segmentation defects were examined in a series of perinatal autopsies. Variations in vertebral morphology (whether changes in overall numbers or homeotic transformations from one morphological type to another) and of number of well-formed ribs were common, and both were associated with extraskeletal malformations. Rudimentary cervical ribs were present in almost half of all cases and were not specifically associated with extraskeletal abnormalities. Radiographs of all fetuses and infants at autopsy are recommended as they may uncover axial skeletal abnormalities.     

MURCS association

The MURCS association i.e. MUllerian duct aplasia, Renal aplasia, Cervicothoracic Somite dysplasia is a rare developmental disorder. The authors report a case of MURCS association with supernumerary ribs in a 7-month-old infant who presented with failure to thrive     

Experimental studies on cervical and lumbar ribs in mouse embryos

In humans, the presence of cervical and lumbar ribs is of particular clinical significance. However, the relevance of their occurrence in the offspring of experimental animals in reproductive toxicologic studies is poorly understood. Maternal toxicity has been implicated in the etiology but conclusive evidence is lacking. The present study was undertaken to determine the incidence of supernumerary ribs (SNR) in mouse fetuses prenatally exposed to valproic acid (VPA) and retinoic acid (RA), and to compare their differential developmental susceptibility and morphological association with other axial skeletal anomalies. Single doses of valproic acid (VPA) or retinoic acid (RA) were administered to groups of mice on one of gestation days (GD) 7-12. Fetuses were collected on GD 18 and their skeletons examined for SNR. VPA treatment on GD 7 and GD 8 resulted in a high incidence of cervical and lumbar ribs, respectively. Cervical neural arch anomalies in the GD 7 group, and eight pairs of sternal ribs and seven sternebrae in the GD 8 group were observed in excess of the background SNR suggesting a direct effect of VPA on the developing mouse skeletal system. In the RA groups, GD 8-12 were susceptible for lumbar rib induction but increased incidence of cervical ribs was observed only from GD 9-12. Peak incidence of cervical ribs was found in the GD 10 and 11 groups and that of the lumbar ribs in the GD 8 and 11 groups. Although SNR incidence generally increased with increasing dose of RA, a strict dose-response relationship was lacking. Cervical arch anomalies were observed in as many embryos as those with cervical ribs, but eight pairs of sternal ribs and seven sternebrae did not correlate well with the lumbar ribs in the peak day groups. Interrupted cervical neural arches correlated well with lumbar ribs. The reduction in the frequency of presacral vertebrae from 26 to 25 in the VPA groups was limited to GD 7 (30%) and 8 (18%) groups. RA-induced reduction in presacral vertebral number extended to GD 9 and was greater in the GD 8 than in the GD 9 groups. Sternal anomalies occurred both in VPA and RA experiments and did not strictly correlate with the frequency of SNR. VPA had a narrow window of susceptibility, whereas RA effects on sternum extended from GD 9-12. The incidence of sternal anomalies generally increased with increasing dose and advancing developmental stage at which RA exposure occurred. These developmental susceptibility windows and associated malformations, when considered in the context of the ability of these drugs to induce alterations in gene expression in mouse embryos suggest that SNR are polygenic in origin and greatly influenced by environmental toxicants.