Vertebral Anomalies Research Articles

Predictors of Early Mortality in Esophageal Atresia: A 12-year Cohort Study in Tehran, Iran

Background: Esophageal atresia and tracheoesophageal fistula (EA/TEF) is a known correctable anomaly of the esophagus, and its prognosis depends on multiple factors. Studies investigating the EA/TEF post-operative outcomes among the Iranian population are limited to small sample sizes, and the current prevalence of coexisting anomalies and predictors of poor prognosis in the Iranian population is still unclear. Objectives: This study aimed to investigate the predictors of in-hospital mortality in neonates with EA/TEF at our center within a 12-year period. Methods: In this retrospective cohort study, we investigated neonates with EA/TEF admitted/referred to a tertiary referral center in Tehran, Iran, from March 2008 to April 2020. Neonates with chromosomal anomalies or age > 10 days at operation date were excluded. Baseline characteristics, associated anomalies, type of EA, and transmission distance were compared in the study population. We followed the neonates for incurring in-hospital mortality. Results: We included 233 neonates in the final analysis. The mean age at operation was 3.1 ± 1.7 days, and 111 (47.6%) cases were female. The most common EA type was type C (proximal esophageal atresia with distal fistula), with a prevalence of 94.4%. In this cohort, 23 (9.9%) cases had vertebral anomalies, anal atresia, cardiovascular malformations, trachea-esophageal fistula, renal and limb anomalies (VACTERL) association, and 29 (12.4%) cases died during the in-hospital course. Moreover, neonates with lower birth weight, gestational birth weight < 37 weeks, other coexisting anomalies, cardiovascular defects, and non-VACTERL anomalies were at higher risk of in-hospital mortality. In contrast, EA types and transmission distance did not increase the mortality risk. Furthermore, we measured a cut-off value of < 2575.0 g for birth weight to predict in-hospital mortality with 65.5% sensitivity and 61.3% specificity. Conclusions: Lower birth weight, prematurity (< 37 weeks), and coexisting anomalies, especially cardiovascular defects, were associated with an increased risk of in-hospital mortality in neonates after EA/TEF repair surgery.

ODP380 Case of Skeletal Dysplasia in Post-Menarchal Pediatric Patient due to Novel Mutation of CSGALNACT1

Abstract We report the case of a 14 year old Yemenite female diagnosed with autosomal recessive skeletal dysplasia secondary to a novel mutation of CSGALNACT1. She was initially referred to pediatric endocrine for poor linear growth at the age of 11 year 7 months. At that time, her height was well below the growth curve with z-score of -3.51. She had no reported history of intellectual disability. She had a normal MRI of the brain as well as normal growth factors, growth hormone stimulation test, thyroid function, IgA celiac antibodies, and a normal karyotype (46,XX). SHOX and microarray were negative. Her bone age was slightly delayed at 10-11 years with a chronological age of 11y8m. On initial evaluation by genetics, she was normocephalic with no dysmorphic facial features. She had proportionate limbs but was noted to have mild lumbar lordosis, increased joint laxity, and flattened feet with fifth toe clinodactyly. Notably there was a family history of consanguinity (parents are first cousins once removed). A skeletal dysplasia gene panel was not thought to be indicated, and she was referred back to endocrine. She was lost to follow up with endocrine but returned to clinic after 1 year when she was post-menarchal. She continued to have poor linear growth. Upon reevaluation, she was noted to additionally have a high-arched palate and shortened hallux. A panel for skeletal dysplasia was sent which detected a novel homozygous mutation of CSGALNACT1 with autosomal recessive inheritance. CSGALNACT1 encodes chondroitin sulfate N-acetylgalactosaminyl transferase which is crucial for chondroitin sulfate chain biosynthesis and glycosaminoglycan synthesis. Congenital disorders of glycosylation are genetically inherited conditions due to abnormal glycan biosynthesis. Glycosaminoglycans (GAGs) are vital in normal development of cartilage and the brain. We performed a PubMed search and saw four reported cases of individuals with mutations of CSGALNACT1. Clinically these individuals had relative macrocephaly, rhizomelia, hyperlordosis, joint laxity, and mild neurodevelopmental delay. Reported radiographic findings of affected individuals include advanced bone ages, flattened acetabular roofs, and vertebral anomalies. Our patient in contrast did not have overt dysmorphic features on exam nor reported intellectual disability to prompt a more immediate workup for skeletal dysplasia. There have been only a handful of cases with CSGALNACT1 mutations and skeletal dysplasia. These individuals more typically have findings of dysmorphia on exam including macrocephaly, lordosis, and joint laxity. Our patient lacked these typical features that are more normally associated with skeletal dysplasia yet was revealed to have a novel mutation of CSGALNACT1. Based on her initial genetic evaluation, her clinical findings were subtle and did not indicate a workup for skeletal dysplasia. Her case however shows that even in the absence of dysmorphic features, skeletal dysplasia should be considered in individuals with severe short stature. Presentation: No date and time listed

Variable Morphology of Sacrum in General Population

Background: One of the large trilateral bones present at the base of the vertebral column is named as sacrum. The body weight transfers from trunk to pelvis and lower extremities. Different studies considering sacral morphological variations are conducted in the western world. The scope and knowledge of these studies in the eastern world is limited. Different sacral anatomies are reported by the scientists. Objective: The purpose of the study was to investigate and measure thoroughly the variable morphologies of sacrum. Study design: It is an investigational and cross-sectional study facilitated by statistical approach. Material and Methods: The study was conducted on 223 skeleton samples. These samples were preserved in the anatomy department of Mufti Mehmood Teaching Hospital Dera Ismail Khan and Bacha Khan Medical Complex Swabi during the period from October 2021 to June 2022. The human research ethical committee of the hospital approved the study. The vernier caliper was used to measure the correlation parameters of variability. The morphological features were calculated. The study also calculated the sacral variation incidence. The sacra with any kind of bony defects were excluded from the study. Results: The anatomical differences reported in the 223 samples were observed to be 59%. Out of the 223 patients the 81 were females and 142 were males. The five variations were reported in the sacral regions, while two samples have the rare sacral variations. The mean age of the included sample was observed to be 44 years. The age of the people whose sacral samples were included in the study was between 21-72 years. The percentage incidence of accessory auricular faces was observed to be 12.5%. The sacral skewness was observed in 24% cases. The 17% showed the transitional vertebra, while sacral spina bifida occulta was seen in 28% samples. Conclusion: This large scale anatomical study provides information about the apparent changes in the morphology of different sacral variables. This study provides comprehensive data about the different sacral variations. The detailed information about the human sacrum is provided. The apparent identification methods by western medical officers are also considered in this work which may help our medical staff to identify the sacral variations. Keywords: Sacrum variations, Sacrum morphology, Accessory auricular faces, Transitional vertebra and Sacral spina bifida occulta

Diagnostic Limitations and Aspects of the Lumbosacral Transitional Vertebrae (LSTV)

The regeneration of an intervertebral disc can only be successful if the cause of the degeneration is known and eliminated. The lumbosacral transitional vertebrae (LSTV) offer itself as a model for IVD (intervertebral disc) regeneration. The aim of this work is to support this statement. In our scoliosis outpatient clinic, 1482 patients were radiologically examined, and ambiguous lumbosacral junction underwent MRI examination. Patients with Castellvi classification type II–IV were included and the results are compared with the current literature in PubMed (12 October 2022). The LSTV are discussed as a possible IVD model. A total of 115 patients were diagnosed with LSTV Castellvi type II–IV. A Castellvi distribution type IIA (n-55), IIB (n-24), IIIA (n-20), IIIB (n-10) and IV (n-6) can be found. In all, 64 patients (55.7%) reported recurrent low-back pain (LBP). Scoliosis (Cobb angle >10°) was also confirmed in 72 patients (58 female and 14 male) and 56 (75.7%) had unilateral pathology. The wide variation in the literature regarding the prevalence of the LSTV (4.6–35.6%) is reasoned by the doubtful diagnosis of Castellvi type I. The LSTV present segments with reduced to absent mobility and at the same time leads to overload of the adjacent segments. This possibility of differentiation is seen as the potential for a spinal model.

Vertebral anomalies associated with anorectal malformations incidentally found on contrast studies: a case series

Background: Spinal congenital malformations are closely associated with other congenital anomalies, are usually asymptomatic and be found incidentally. Moreover, spine abnormalities such as hemivertebra may cause further complications if left untreated. Among patients with VACTERL anomalies, spine anomalies account for 60-95% of them. This report aimed to describe rare and interesting cases of spinal malformation in children to provide further information on the importance of a proper approach in such cases. Case Presentation: We present three pediatric cases of vertebral anomalies associated with anorectal malformations incidentally found in contrast studies. All patients have a history of anorectal abnormalities at birth and are referred to the hospital for contrast studies. The first case found semi-segmented hemivertebra at T8-9 levels, cleft at T10 level and high-type anorectal malformations (ARMs). The second case showed unsegmented hemivertebra at the level of L1 and butterfly vertebra at T10, approximately at the same level as the skin lesion, with the possibility of occult spina bifida and high-type ARMs. The third case revealed bilateral vesicoureteral reflux (VUR), grade 1 right hydroureteronephrosis and left hydroureter, with semi-segmented hemivertebra at the level of L3, unsegmented hemivertebra at L4-5 and an extra lumbar vertebra, possibly a lumbosacral transitional vertebra (LSTV). Conclusion: Thorough screening and other examinations such as contrast studies could reduce their morbidity as more sophisticated imaging may be done to better visualize the anatomical malformation.

New insights in the prevalence of scoliosis and musculoskeletal asymmetries in adolescents with esophageal atresia

BackgroundIncreased risk of scoliosis and musculoskeletal abnormalities in adolescents with esophageal atresia (EA) is reported, but the impact of these abnormalities on physical fitness and motor skills are not known. MethodsScoliosis was assessed radiographically and shoulder and chest abnormalities by a standardized protocol. Physical fitness was evaluated with Grippit, Six-minute walk test, and International Physical Activity Questionnaire and motor skills by Motor Assessment Battery for Children. ResultsSixty-seven EA adolescents median 16 (13–20) years participated. The prevalence of significant scoliosis (≥ 20º) was 12% (8/67) whereas 22% (15/67) had mild scoliosis (10–19º). Vertebral anomalies occurred in 18/67 (27%), eight of them (44%) had scoliosis. The majority of adolescents (15/23) with scoliosis did not have vertebral anomalies. Musculoskeletal abnormalities were detected in 22–78%. Balance problems occurred three times more frequently than expected (44% vs. 15%, p = 0.004). Submaximal exercise capacity was significantly reduced compared to reference values (p < 0.001). Scoliosis ≥ 20º was related to reduced physical activity (p = 0.008), and musculoskeletal abnormalities to reduced physical activity and impaired motor skills (p = 0.042 and p < 0.038, respectively). ConclusionsSignificant scoliosis was diagnosed in 12% of the EA adolescents and related to reduced physical activity. Musculoskeletal abnormalities identified in more than half of the patients, were related to reduced physical activity and impaired motor skills, and exercise capacity was significantly below reference group. EA patients with and without vertebral anomalies need health-promoting guidance to prevent impaired motor skills and consequences of reduced physical activity.Level of evidence: Prognostic Study, Level II

Lumbosacral transitional vertebrae: prevalence in a southern European population and its association with low back pain.

Lumbosacral transitional vertebra (LSTV) is a congenital anomaly of the lumbosacral junction. Its prevalence is variable in the literature such as its association with low back pain. The aim of this study was to identify the prevalence of LSTV in a southern European population, and its correlation with low back pain. A retrospective review of 639 thoraco-abdomino-pelvic consecutive CT-scans between January 2019 and November 2020 was performed. The presence of LSTV was classified into type II, III, IV based on Castellvi's classification. To investigate the association with low back pain, Oswestry Low Back Disability Questionnaire (ODI) and the EuroQol-5D-3L questionnaire was applied. The prevalence of LSTV was 24.9% (142 of 571). 37,3% were type IIb, 31,0% were type IIa, 13,4% were type IIIa, 9.9% were type IIIb and 8.5% were type IV. Individuals with LSTV were more likely to report low back pain and have a higher ODI score (OR:0.392, 95% CI:0.192-0.802, p = 0.010), (OR: 1050, 95% CI: 1029-1072, p < 0.01). Castellvi's type IV showed a significantly higher ODI when compared to type II (OR:1059, 95% CI:1019-1100, p = 0,04). There was no statistical difference in the EuroQol-5D-3L score between two groups (OR:1085, 95% CI: 0.459-2.560, p = 0.852). This population-based study adds to the literature the prevalence of LSTV in a southern European population. LSTV was associated with low back pain. However, this difference did not translate into a loss of quality life. Type IV was associated with higher functional disability when compared with type II.

Use of intra-operative internal distraction for the application of magnetically controlled growth rods (MCGR): a technique for maximizing correction in the rigid immature spine during index surgery.

Operative treatment of early onset scoliosis (EOS) with Magnetically Controlled Growing Rod (MCGR) in moderate-to-severe curves poses a challenge due to the limited amount of force and length available with the implant. The purpose of this study was to assess the use of the intra-operative internal spine distraction using Harrington Outrigger, before definitive implantation of MCGR, with regard to initial correction, maintenance of correction, truncal balance, and complication rates. 16 EOS patients treated with the application of MCGR using the intra-operative internal distractor technique were included in the study. More than 50% of cases were congenital scoliosis with multiple vertebral anomalies. All patients were followed up for a minimum of 2years. Radiological measurement of change in Cobb angle, thoracic kyphosis, lumbar lordosis, T1-S1 length, T1-T12l length, and sagittal balance were done at pre-op, immediate post-op, after 1year, and 2years. All the complications were noted and documented. The mean age of the operated patients was 8±1.7years, range (4-10years). Mean pre-operative Cobb angle was 70.4 degrees. The mean correction of major Cobb angle was 34.6°. The percentage correction achieved in post-operative Cobb angle was about 51%. Mean change in post-operative thoracic kyphosis was 18.5° (40%). The average gain in immediate post-operative spinal length (T1-S1) and thoracic height (T1-T12) was 46.7mm (18.3%) and 41mm (23%), respectively. Large and rigid curves in EOS can achieve a significant correction of Cobb angle and coronal imbalance during the index operation, by the use of intra-operative internal distraction at the time of MCGR insertion. Retrospective clinical study, level 4.

Incidence of Lumbosacral Transitional Vertebrae in Patients with Low Back Pain

Background: The lumbar spine's lumbrosacral transitional vertebrae (LSTV), a structural defect, have been variously linked to low back pain (LBP). Their presence can also lead to an incorrect pre-operative level identification. Objective: To examine the relationship between lumbosacral transitional vertebrae detected on plain radiographs and low back pain in patients. Study Setting: Department of orthopedics, Shifa international hospital, Islamabad Methods: The study design was prospective and descriptive. The study was conducted between July 2021 to December 2021. The radiographs of 100 patients with low back pain who met the inclusion/exclusion criteria were evaluated. The frequency of patients with low back pain and lumbosacral transitional vertebra (LSTV) was calculated using SPSS version 26. For the quantitative data presentation mean and standard deviation was utilized and for qualitative data frequencies were used. P value less than 0.05 was considered significant. Results: In a sample of 100 patients, 40 were men and 60 were women. 45 patients were diagnosed with axial type of lower back pain. The prevalence of LSTV was 27%, with males constituting the majority. No significant difference in the LSTV and Normal spine age distribution intervals was observed except, in the age interval of 51-60 years with a P-Value of &lt;0.001. Conclusion: There is substantial evidence linking lumbosacral transitional vertebrae and low back pain.

Lumbosacral transitional vertebrae alter the distribution of lumbar mobility-Preliminary results of a radiographic evaluation.

BackgroundLumbo-sacral transitional vertebrae (LSTV) are one of the most common congenital variances of the spine. They are associated with an increased frequency of degeneration in the cranial adjacent segment. Hypermobility and concomitant increased loads are discussed as a possible reason for segmental degeneration. We therefore examined the lumbar and segmental motion distribution in patients with LSTV with flexion-extension radiographs.MethodsA retrospective study of 51 patients with osteochondrosis L5/S1 with flexion and extension radiographs was performed. Of these, 17 patients had LSTV and were matched 1:1 for age and sex with patients without LSTV out of the collective of the remaining 34 patients. The lumbar and segmental range of motion (RoM) by segmental lordosis angle and the segmental wedge angle were determined. Normal distribution of parameters was observed by Kolmogorov-Smirnov-test. Parametric data were compared by paired T-test. Non-parametric data were compared by Wilcoxon-rank-sum-test. Correlations were observed using Spearman’s Rank correlation coefficient. A p-value <0.05 was stated as statistically significant.ResultsPatients with LSTV had mean age of 52.2±10.9, control group of 48.9±10.3. Both groups included 7 females and 10 males. Patients with LSTV presented with reduced RoM of the lumbar spine (LSTV 37.3°±19.2°, control 52.1°±20.5°, p = 0.065), however effects were statistically insignificant. LSTV significantly decreased segmental RoM in the transitional segment (LSTV 1.8°±2.7°, control 6.7°±6.0°, p = 0.003). Lumbar motion distribution differed significantly; while RoM was decreased in the transitional segment, (LSTV 5.7%, control 16.2%, p = 0.002), the distribution of lumbar motion to the cranial adjacent segment was increased (LSTV 30.7%, control 21.6%, p = 0.007).ConclusionPatients with LSTV show a reduced RoM in the transitional segment and a significantly increased motion distribution to the cranial adjacent segment in flexion-extension radiographs. The increased proportion of mobility in the cranial adjacent segment possibly explain the higher rates of degeneration within the segment.

Spondylocostal dysplasia: a rare cause of respiratory distress in term neonates

Jarcho-Levin syndrome (JLS) also known as spondylocostal dysplasia is a rare congenital dysplastic disorder involving ribs and vertebrae. It as an autosomal recessive form of inheritance however dominant forms have also been reported. Multiple genes have been postulated to be causative, however exact genetic basis is not known. Infants usually present at birth with respiratory distress and have varying degree of thoracic and vertebral anomalies. We present a case of term male infant with a clinical diagnosis of JLS. The infant presented at birth with distress with no significant antenatal risk factors. On examination he was found to have a short neck, short trunk, accessory nipple with asymmetrical chest wall. X-ray suggested absent ribs (2-8) on left side with hemivertebrae (T3-T8). The baby was managed conservatively and is being followed up with neonatologists, orthopaedicians and pediatric surgeons.

OA25 Constitutional trisomy 8 mosaicism is associated with a paediatric incomplete Bechet’s-like phenotype

Introduction/BackgroundBehcet’s disease is a rare paediatric diagnosis and to date there is no single confirmatory gold-standard test or approach. Instead, decisions are clinician-led based on experience, pattern recognition and categorisation according to international criteria. Diagnostic dilemmas arise when patients present at early ages with an incomplete or atypical phenotype. Such cases should prompt clinicians to consider Bechet-like mimics with emphasis of monogenetic and chromosomal causes in younger children.Description/MethodA 5-year-old boy with constitutional Trisomy 8 mosaicism was referred to a Bechet’s disease National Centre of Excellence paediatric clinic with cyclical episodes of fever, mouth ulcers, pseudofolliculitis and headaches.During the initial outpatient assessment period (6-12 months) symptoms were reported every 2-3 months and would last for around 1-2 weeks at a time. Physical examination and a photo diary reveal oral ulcers and rashes. He had pre-existing skeletal dysmorphism with severe pectus carinatum, scoliosis and widespread limb contractures secondary to Trisomy 8. Serial blood testing around episodes showed an associated inflammatory response.Although his phenotype was incomplete; with evidence of recurrent autoinflammation a trial of immunosuppression with colchicine was commenced. He displayed a dose-dependent improvement as evidenced by reduction in the frequency and severity of episodes.His Behcet’s-like disease remains well controlled and to date there has been no amyloidosis, ocular, gastrointestinal or cardiovascular complications.Discussion/ResultsBehcet’s disease is a multisystem chronic vasculitis presenting with widespread mucosal involvement occurring in a relapsing-remitting fashion. Classic manifestations are recurrent sterile aphthous ulcers, genital ulcers, mucosal eye involvement and a positive Pethargy test.It usually presents with all of these classic features by the 3rd or 4th decade of life; children can be affected but usually present with paucity of symptoms not reaching diagnostic criteria. As such, the accumulation of symptoms during a follow-up period may lead to a diagnostic lag of around 3-5 years. The young age of this patient therefore raised clinical suspicion for an alternative diagnosis.The aetiology of Bechet’s disease has elucidated rheumatologists since the first description in 1937. An association with HLA-B51 antigen is well documented but not fully understood. The advent of widely available next-generation genetics provides important clues to its aetiology and helps delineate monogenic and chromosomal mimics. To date 21 genetic loci have been identified through genome-wide association studies and least 11 monogenic and chromosomal mimics been described in the literature.Constitutional Trisomy 8 mosaicism has been shown to be a chromosomal-driven mimic of Behcet disease. It is rare (1-25.000 to 1-50.000 live births) with a 5:1 male predilection; those affected present with a spectrum of abnormal facies, vertebral and limb anomalies including contractures.Interestingly a similar Bechet-like disease is also seen in patients who acquire Trisomy 8 mosaicism in cells affected by myeloid malignancies. Such cases are more numerous and predate those associated with the constitutional form.The final common pathogenesis is thought to be activation of the NF-κB pathway. Reports postulate overexpression of several cytokine genes, production of proinflammatory cytokines and reactive oxygen species. The exact pathogenesis is not fully understood, further research may reveal clues to understanding both Constitutional Trisomy 8 mosaicism and Behcet Disease.Key learning points/ConclusionLearning points:1. Consider monogenic and chromosomal Behcet Disease mimics in those patients who present at young ages or at any time with atypical or incomplete features.2. Our patient with Constitutional Trisomy 8 Mosaicism with Behcet-like disease showed a dose-dependent improvement with colchicine.

Susceptibility-weighted imaging to evaluate normal and abnormal vertebrae in fetuses: A preliminary study.

To evaluate the performance of susceptibility-weighted imaging (SWI) in visualizing normal and abnormal fetal vertebrae in vivo and in utero. Ninety-seven women with normal fetal vertebrae and 127 women suspected fetal vertebral anomalies on ultrasound were included in our study. SWI, true fast imaging with steady state precession (TrueFISP), and half-Fourier acquisition single-shot turbo spin-echo (HASTE) of the fetal spine were performed on 1.5-T magnetic resonance imaging. The image quality and diagnostic performance between HASTE/TrueFISP and SWI were compared. Pearson correlations to correlate the L1 centrum ossification center (COC) measurements with gestational age (GA) were performed. The visibility of the fetal vertebral structures on the SWI images (3.58±0.69) was significantly greater than those on the HASTE (1.98±0.51, p<0.001) and TrueFISP (2.63±0.52, p<0.001). The diagnostic accuracy of SWI (89.0%) was superior to HASTE/TrueFISP (48.0%) (p<0.001) and the area under the curve for SWI was 0.909 (p<0.001). The height, transverse, sagittal diameter, and area of L1 COC were linearly correlated with GA (all p<0.001). SWI proved to be a reliable method for depicting fetal vertebral structure and growth, which can significantly improve the diagnostic performance of vertebral anomalies in fetuses.

Is lumbosacral transitional vertebra associated with lumbar disc herniation in patients with low back pain?

To evaluate lumbosacral transitional vertebrae (LSTV) frequency in patients with low back pain and lumbar disc herniation (LDH) and to analyze correlations between LSTV presence and intervertebral disc degeneration. This retrospective study included patients with low back pain applying between January 2021 and August 2021. Inclusion criteria were age of 18-65, presence of a standing lumbosacral Xray and a lumbar MRI taken within 2weeks of the indexed symptoms. Patients with a history of spondylolisthesis, spondylodiscitis, scoliosis and vertebral neoplasia were excluded. A total of 1821 patients met the inclusion criteria. Radiographs and MRIs were evaluated by 2 radiologists. Of all patients, 61.4% were female and the mean age was 43.2 ± 12.2. LDH was detected in 57.7% of patients while a LSTV was present in 43.3%. Sacralization and LSTV were significantly different between the patients with and without an LDH. Patients with LSTV had a higher incidence of a LDH affecting 3 or more intervertebral disc levels (p < 0.001). There was a significant difference in-between LSTV and non-LSTV groups regarding the M1 and M2 intervertebral disc degeneration levels. A LDH is more common in the presence of a LSTV. Female sex is highly correlated with herniation. Three or more intervertebral disc levels are affected in the presence of an LSTV. Significantly higher degeneration incurs at the M1 and M2 intervertebral levels. Sacralization is a risk factors for a lumbar disc herniation.

Optimum Vertebral Level of Castellvi Type III or Higher Lumbosacral Transitional Vertebrae When Measuring Spinopelvic Parameters.

Castellvi type III and IV lumbosacral transitional vertebrae (LSTVs) are fused to the sacrum. In these cases, the pelvic incidence (PI) and pelvic tilt (PT) may vary according to the selected "S1." This study aimed to determine the optimum vertebral level of these LSTVs when measuring PI and PT. PI and PT were measured twice in 56 patients with type III and IV LSTVs with a balanced spine, with LSTV considered as the lowest lumbar vertebra (LLV) or S1. PI and PT measured with LSTV as LLV were denoted as LLV_PI and LLV_PT, and those measured as S1 were denoted as S_PI and S_PT. Reference ranges (mean -2 SD to +2 SD) of PI and PT were derived from 183 non-LSTV patients with a balanced spine as 35.5° to 68.8° (PI) and 2.5° to 29.6° (PT). If S_PI, S_PT, or both were below the reference range, the LSTV was interpreted as LLV. If LLV_PI, LLV_PT, or both were above the reference range, it was interpreted as S1. If all parameters were within the respective reference range, it was interpreted as an intermediate type. The optimum vertebral level of LSTV was S1 (n = 29, 51.8%), most frequently due to high LLV_PT (35.4°±4.7), followed by LLV (n = 14, 25%) due to low S_PI (31.5°±5.2) and intermediate type (n = 13, 23.2%). If PI is too small or PT is too large to represent the actual sagittal alignment in patients with Castellvi type III and IV LSTVs, the selected S1 should be reconsidered. PI and PT measurements can be used to determine whether the optimum vertebral level of Castellvi type III and IV LSTV should be considered LLV or S1.

Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report

A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis, musculoskeletal and craniofacial alterations, short stature, bowing of long bones, vertebral anomalies, genu recurvatum, hypertrichosis, joint and skin hyperlaxity, atopic dermatitis, megalocorneas, micrognathia and frequent respiratory infections, among others. Treatment is with bisphosphonates in the framework of bone density improvement and with focal vibration therapy for rehabilitation of the musculoskeletal system and gait improvement. The three generalities of this pathology—phenotypic variability, degenerative character and the presence of generalized osteoporosis and acroosteolysis of the distal phalanges—are seen in this case, whose diagnostic confirmation was made by genetic study.

Lumbosacral Transitional Vertebrae Influence on Acetabular Orientation and Pelvic Tilt.

Lumbosacral transitional vertebrae (LSTV) are common congenital variances with a prevalence found in the population up to 35.6%. The literature demonstrates an influence of LSTV on bony pelvic anatomy. The influence on the anatomical acetabular orientation, which is important for cup positioning in total hip arthroplasty, has not yet been described for patients with LSTV. A total of 53 patients with LSTV were identified from a CT Database including 819 subjects. Fifty patients with LSTV could be included and were matched for age and sex against a control group. We examined the influence of LSTV, classified according to Castellvi, on acetabular orientation and pelvic tilt in the supine position. Functional acetabular anteversion and inclination, assessed against the table plane, were compared against anatomical acetabular anteversion and inclination, assessed against the anterior pelvic plane. The anatomical acetabular inclination correlated with the pelvic tilt (r = 0.363, p < 0.001). The anatomical acetabular inclination was significantly larger than the functional acetabular inclination in the supine position (p < 0.001). Castellvi grading of LSTV correlated negatively with pelvic tilt (ρ = −0.387, p = 0.006). Castellvi grading correlated significantly with functional acetabular anteversion (ρ = 0.324, p = 0.022) and anatomical acetabular anteversion (ρ = 0.306, p = 0.022). A higher Castellvi grading was accompanied by a reduced pelvic tilt in the supine position. The functional acetabular anteversion and anatomical acetabular anteversion increased in parallel to the higher Castellvi grading. Therefore, LSTV and Castellvi grading might be assessed on pre-operative X-rays prior to hip arthroplasty and surgeons might consider adjusting cup positioning accordingly.

First description of frequent occurrence of supernumerary lumbar ribs and transitional vertebrae in children with Williams-Beuren syndrome.

Williams-Beuren syndrome is a rare multisystemic genetic disorder with an incidence of 1 in 7,500 live births. Because these children often have scoliosis, they undergo routine radiographic examinations of the spine. During these examinations we have found many children with supernumerary lumbar ribs arising from the first lumbar vertebra, often associated with lumbosacral transitional vertebrae. To describe the incidence of supernumerary ribs and transitional vertebrae in children with Williams-Beuren syndrome and compare it to the incidence in a general population. Our hypothesis is that these findings are common, but they have not been described in the literature concerning Williams-Beuren syndrome. From January 2015 to October 2021, 308 patients (138 male) with Williams-Beuren syndrome were treated at our hospital. Of these, 106 (47 male) underwent diagnostic imaging, mostly for suspected scoliosis. Panoramic radiographs of the whole spine were performed in 88 patients and radiographs of regions of the spine, chest radiographs, CT, MRI or fluoroscopy in 18 patients. We retrospectively analysed the images concerning the number of ribs and vertebrae. We correlated the frequency of lumbar ribs and transitional vertebrae in comparison to a general population as described in the literature. After exclusions for insufficient imaging, we analysed imaging in 91 patients. Of these, 67 patients (73.6%) had 13 ribs, of which 85% were located on both sides, 9% on the right and 6% on the left side. Of the 67 patients with supernumerary lumbar ribs, 38 (57%) also had transitional vertebrae. Supernumerary lumbar ribs arising from the first lumbar vertebra, often accompanied by lumbosacral transitional vertebrae, are common in children with Williams-Beuren syndrome.

Effects of different rations on production performance, spinal anomalies, and composition of Chinook salmon (Oncorhynchus tshawytscha) at different life stages

The effect of feeding restricted rations was investigated in two different size classes of Chinook (King) salmon (Oncorhynchus tshawytscha). Smaller individuals (725 g initial mean weight) were fed with 100% (satiation, SR1), 90.4% (SR2), or 81.6% (SR3) feed rations for 64 days, while larger individuals (1689 g initial mean weight) were fed with 100% (LR1), 82.6% (LR2), or 76.1% (LR3) feed rations for 119 days. The growth performance was evaluated for both size classes, and for the larger individuals, the analysis also included spinal curvature incidence (lordosis–kyphosis–scoliosis (LKS)), whole-body and fillet proximate composition, and fatty acid profiles. In both size classes, the final weight, weight gain, specific growth rate (SGR), and condition factor (CF) were significantly higher in individuals fed to satiation (SR1 and LR1) compared to individuals fed restricted rations (SR2 and LR2, SR3 and LR3). However, no significant differences in FCR were observed among the different treatments. Although the incidence of spinal curvature and vertebral body anomalies (i.e., compressions, fusions, vertical shifts) in the larger individuals were higher for the groups fed to satiation (LR1) compared to the groups fed restricted rations (LR2 and LR3), only the differences in vertebral anomalies were statistically significant. No significant differences were observed in whole-body and fillet proximate composition, while several significant differences were observed in the fatty acid profiles (whole-body and fillet) of larger individuals fed different rations. Monounsaturated fatty acids (MUFA), especially oleic acid (OA, 18:1n-9), and n-6 polyunsaturated fatty acids (n-6 PUFA), especially linoleic acid (LA, 18:2n-6) levels, were higher in fish fed to satiation. In contrast, saturated (SFA), primarily palmitic acid (PA, 16:0), and n-3 polyunsaturated fatty acids (n-3 PUFA), primarily eicosapentaenoic acid (EPA, 20:5n-3), and docosahexaenoic acid (DHA, 22:6n-3), were lower in groups fed the higher rations. Despite the overall improved growth performance of the groups fed to satiation, our results suggest that feeding Chinook salmon restricted rations has the potential to decrease the incidence of spinal anomalies, particularly vertebral body anomalies, and improve product quality (based on n-3 PUFA levels), without compromising FCR.

The spinal cord-to-vertebral canal area ratio measured with computed tomography is lower in the thoracolumbar than the cervical region in French Bulldogs.

To compare spinal cord-to-vertebral canal area ratios measured with CT between the cervical and thoracolumbar regions in French Bulldogs. 37 French Bulldogs presented to a referral hospital between 2016 and 2019. The study was conducted as a retrospective observational study. Exclusion criteria were evidence of vertebral malformations or spinal cord compression at the sites where measurements were obtained and the presence of cervicothoracic or thoracolumbar transitional vertebrae or neurologic deficits. CT images were reviewed, and measurements were performed by 2 investigators. Measurements of the spinal cord and vertebral canal were made at the level of or immediately cranial to the midbodies of C5 and L1. A 2-tailed, paired t test indicated that the mean spinal cord-to-vertebral canal area ratio differed significantly (P < .01) between C5 (0.726) and L1 (0.605). The ratio was lower in the thoracolumbar region, suggesting that the vertebral canal was relatively larger in this region. The epidural space did not appear to be larger in the cervical than in the thoracolumbar region in this population of French Bulldogs, contrary to previous reports. The reason for the more severe deficits observed with thoracolumbar disk extrusion in this breed remains to be characterized.