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Retrospective comparative study. To compare complications before and after implementation of the Multi-D screening protocol in complex pediatric patients undergoing spinal instrumentation for non-idiopathic scoliosis. Pediatric patients undergoing surgery for non-idiopathic scoliosis experience significantly more complications than those with idiopathic scoliosis. Operating on these patients can lead to serious complications including death. Recent reports have demonstrated the benefits of establishing a multidisciplinary-based system to reduce complications in adult spinal deformity during the perioperative period. However, there are limited studies examining these benefits in a complex pediatric spine population. This was a retrospective review of all cases involving spinal instrumentation at our institution for 2 years before and after the initiation of our Neuromuscular Spine Surgery Care Plan in July 2014. Study sample was n = 129 cases (107 patients) prior to the initiation of the process and n = 122 cases (109 patients) thereafter. Primary outcome measures included: mortality at 30 days and 1 year; post-operative neurologic deficit, and surgical site infections (SSI). Secondary outcome measures included: instrument failure in 1 year; readmission in 30 days; return to OR in 90 days. The study populations were matched by age and gender. Patients passing the Multi-D conference had higher BMI. Implementation of the Multi-D conference reduced mortality at 30 days (2 vs 0, p = 0.17) and at 1 year (4 vs 0, p = 0.04), as well as reduced post-operative neurologic deficit (2 vs 0, p = 0.17). The rate of SSI remained unchanged. All other secondary outcome measures also remained unchanged. Implementation of a Multi-D conference led to a significant reduction in mortality at 1 year, and is an important safety process to reduce serious complications after non-idiopathic scoliosis surgery. Level III.

The purpose of the present study was to validate a new spinal sagittal classification. We retrospectively included 105 consecutive AIS patients who underwent posterior spinal fusion. Preoperative long-standing EOS radiographs were available on all patients. Patients were classified according to the four suggested sagittal patterns: type 1, 2a, 2b or 3. Several predetermined sagittal parameters were compared between the groups. The mean preoperative Cobb angle was 64° ± 12°, and 73% of the patients were female. Of 105 patients, 51 were type 1, 14 were type 2a, one was type 2b and 39 were type 3. The distribution of the four sagittal patterns was significantly different compared with the original publication (p

OBJECTIVE Lateral lumbar corpectomy with interbody fusion has been well described via a transpsoas approach in the lateral position, as has lumbar interbody fusion with posterior fixation in the prone position. However, no previous report has described the use of both an open posterior approach and a lateral transpsoas approach simultaneously in the prone position. Here, the authors describe their technique of performing transpsoas lumbar corpectomy in the prone position in order to have simultaneous posterior and lateral access for difficult clinical scenarios, and they report their early clinical experience. METHODS The surgical technique for simultaneous posterior and lateral transpsoas access to the lumbar spine was reviewed and described in detail. The cases of 2 patients who underwent simultaneous posterior and lateral access in the prone position for complex lumbar pathology were retrospectively reviewed. Clinical presentation, preoperative radiographs, postoperative course, and postoperative radiographs were reviewed. RESULTS The first patient presented after previous transforaminal lumbar interbody fusion that was complicated by significant subsidence of the intervertebral cage, vertebral body split fracture, rotational instability, and resulting spinal stenosis. A simultaneous posterior and lateral transpsoas approach in the prone position allowed for removal of the previous cage, lumbar corpectomy, and rigid posterior fixation with direct decompression. The second patient had a significant pathologic burst fracture secondary to a plasmacytoma with retropulsion, resulting in vertebra plana and significant canal stenosis. Simultaneous approaches allowed for complete resection of the plasmacytoma, restoration of lumbar alignment, rigid fixation, and direct posterior decompression. There were no short-term complications, and both patients had resolution of their preoperative symptoms. CONCLUSIONS Simultaneous posterior and lateral transpsoas access to the lumbar spine in the prone position is a previously unreported technique that allows a safe surgical approach to difficult clinical scenarios.

Purpose :Genitopatellar syndrome and Say–Barber–Biesecker–Young–Simpson syndrome are caused by variants in the KAT6B gene and are part of a broad clinical spectrum called KAT6B disorders, whose variable expressivity is increasingly being recognized. Methods: We herein present the phenotypes of 32 previously unreported individuals with a molecularly confirmed diagnosis of a KAT6B disorder, report 24 new pathogenic KAT6B variants, and review phenotypic information available on all published individuals with this condition. We also suggest a classification of clinical subtypes within the KAT6B disorder spectrum. Results: We demonstrate that cerebral anomalies, optic nerve hypoplasia, neurobehavioral difficulties, and distal limb anomalies other than long thumbs and great toes, such as polydactyly, are more frequently observed than initially reported. Intestinal malrotation and its serious consequences can be present in affected individuals. Additionally, we identified four children with Pierre Robin sequence, four individuals who had increased nuchal translucency/cystic hygroma prenatally, and two fetuses with severe renal anomalies leading to renal failure. We also report an individual in which a pathogenic variant was inherited from a mildly affected parent. Conclusión: Our work provides a comprehensive review and expansion of the genotypic and phenotypic spectrum of KAT6B disorders that will assist clinicians in the assessment, counseling, and management of affected individuals. Sin financiación 8.822 JCR(2020) Q1, 15/176 Genetics & Heredity 3.509 SJR (2020) Q1, 7/96 Genetics (clinical) No data IDR 2020 UEM

Midgut volvulus in pregnancy is rare but life-threatening, resulting in high maternal and fetal mortality. This surgical emergency commonly masquerades as symptoms of pregnancy, which together with its low incidence often leads to delay in diagnosis and definitive treatment. Here, we review the last three decades of the literature, discuss the challenges in managing this rare condition, and raise awareness among clinicians to minimise loss of life.

Midgut volvulus complicating congenital malrotation is a rare but life-threatening condition that can occur in pregnancy. We present a case of intestinal infarction resulting from midgut volvulus in a healthy 32-week pregnant woman who underwent emergency laparotomy and small bowel resection in the setting of fetal death in utero. This case highlights several challenging issues in diagnosing and managing this uncommon condition which leads to increased adverse perinatal outcomes. Prompt investigation and definitive surgical treatment are required when pregnant women present with bilious vomiting and new-onset abdominal or back pain especially beyond the first trimester.

Unfortunately, the names of the members of the Texas Children’s Hospital Spine Study Group have not been mentioned in the published article.

Congenital Disorder of Glycosylation type Ig (ALG12-CDG) is part of a group of autosomal recessive conditions caused by deficiency of proteins involved in the assembly of dolichol-oligosaccharides used for protein N-glycosylation. In ALG12-CDG, the enzyme affected is encoded by the ALG12 gene. Affected individuals present clinically with neurodevelopmental delay, growth retardation, immune deficiency, male genital hypoplasia, and cardiomyopathy. A total of six individuals have been reported in the literature. Here, we present an infant with rhizomelic short stature, talipes equinovarus, platyspondyly, and joint dislocations. The infant had marked under-ossification of the pubic bones. Exome sequencing was performed and two deletions, each resulting in a frameshift, were found in ALG12. A review of the literature revealed two infants with ALG12-CDG and a severe skeletal dysplasia, including under-ossification of cervical vertebrae, pubic bones, and knees; in addition to talipes equinovarus and rhizomelic short stature. The phenotype of the individual we describe resembles pseudodiastrophic dysplasia and we discuss similarities and differences between ALG12-CDG and pseudodiastrophic dysplasia. The differential diagnosis in selected undiagnosed skeletal dysplasias should include CDGs.

Czech dysplasia, metatarsal type is an autosomal dominant skeletal disorder that is characterized by early-onset, progressive arthritis, brachydactyly of the 3rd and 4th toes, and characteristic radiographic findings in patients of normal stature. Patients with Czech dysplasia typically present in late childhood or later. In the present report, whole exome sequencing identified a mutation in COL2A1 (c.823C>T, p.R275C) known to be associated with Czech dysplasia in a 3.5 year old female who had a family history of early-onset arthritis and who was asymptomatic except for prominent knees. The use of whole exome sequencing facilitated diagnosis of this rare disease (less than 15 families in the literature) in the presymptomatic period and thus enabled us to provide early anticipatory guidance and genetic counseling for the family.

The purpose of this study was to develop a biofeedback tilt-table for automatic tilt-table training, helping patients with spinal cord injury (SCI) to recover more rapidly from orthostatic hypotension, and increasing safety to avoid syncope during training. This biofeedback tilt-table implemented automatic training maneuvers and included three closed feedback loops to monitor the acquisition of physiological signals from patients and the feedback of presyncope symptoms (PS) to regulate the angle of tilt. The results of clinical testing revealed that the mean blood pressure and oxygen saturation represented the most useful physiological signals for determining PS feedback and the quantitative criteria adopted were practicable and useful in describing the level of PS. This novel biofeedback tilt-table system offered higher patient throughput, faster training and safety in training of SCI patients to overcome their orthostatic hypotension than traditional tilt-table training, and could provide quantitative information of PS to assist medical staff in studying the mechanism of orthostatic syncope.

Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown. In a cohort study of nine individuals suspected to have Moebius syndrome (six typical, three atypical), we performed whole-exome sequencing to try to identify a commonly mutated gene. Although no such gene was identified and we did not find mutations in PLXND1 and REV3L, we found a de novo heterozygous mutation, p.E410K, in the gene encoding tubulin beta 3 class III (TUBB3), in an individual with atypical Moebius syndrome. This individual was diagnosed with near-complete ophthalmoplegia, agenesis of the corpus callosum, and absence of the septum pellucidum. No substantial limb abnormalities were noted. Mutations in TUBB3 have been associated with complex cortical dysplasia and other brain malformations and congenital fibrosis of extraocular muscles type 3A (CFEOM3A). Our report highlights the overlap of genetic etiology and clinical differences between CFEOM and Moebius syndrome and describes our approach to identifying candidate genes for typical and atypical Moebius syndrome.