Complex spine deformities in young patients with severe osteogenesis imperfecta: current concepts review.

The severity of osteogenesis imperfecta (OI), the associated reduced quality and quantity of collagen type I, the degree of bone fragility, ligamentous laxity, vertebral fractures and multilevel vertebral deformities all impair the mechanical integrity of the whole spinal architecture and relate to the high prevalence of progressive kyphoscoliotic deformities during growth. Bisphosphonate therapy may at best slow down curve progression but does not seem to lower the prevalence of deformities or the incidence of surgery. Brace treatment is problematic due to pre-existing chest wall deformities, stiffness of the curve and the brittleness of the ribs which limit transfer of corrective forces from the brace shell to the spine. Progressive curves entail loss of balance, chest deformities, pain and compromise of pulmonary function and eventually require surgical stabilization, usually around puberty. Severe vertebral deformities including deformed, small pedicles, highly brittle bones and chest deformities, short deformed trunks and associated issues like C-spine and cranial base abnormalities (basilar impressions, cervical kyphosis) as well as deformed lower and upper extremities are posing multiple peri- and intraoperative challenges. Hence, an early multidisciplinary approach (anaesthetist, pulmonologist, paediatric orthopaedic spine surgeon) is mandatory. This paper was written under the guidance of the Spine Study Group of the European Paediatric Orthopaedic Society. It highlights the most pertinent information given in the current literature and various practical aspects on surgical care of spine deformities in young OI patients based on the personal experience of the contributing authors.

Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia.

Spondylometaphyseal dysplasia (SMD) is characterized by developmental changes in long bones and vertebrae. It has large phenotypic diversity and multiple genetic causes, including a recent link to novel variants in the extracellular matrix (ECM) protein fibronectin (FN), a regulator of ECM assembly and key link between the ECM and proper cell function. We identified a patient with a unique SMD, similar to SMD with corner fractures. The patient has been followed over 19 years and presents with short stature, genu varum, kyphoscoliosis, and pectus carinatum. Radiography shows metaphyseal changes that resolved over time, vertebral changes, and capitular avascular necrosis. Whole exome sequencing identified a novel heterozygous FN1 variant (p.Cys97Trp). Using mass spectroscopy, mutant FN was detected in plasma and in culture medium of primary dermal fibroblasts isolated from the patient, but mutant protein was much less abundant than wild-type FN. Immunofluorescence and immunoblotting analyses show that mutant fibroblasts assemble significantly lower amounts of FN matrix than wild-type cells, and mutant FN was preferentially retained within the endoplasmic reticulum. This work highlights the importance of FN in skeletal development, and its potential role in the pathogenesis of a subtype of SMD.

T1-weighted MR imaging of bone marrow pattern in children with adolescent idiopathic scoliosis: a preliminary study.

PURPOSE: Distinct normal physiological patterns of fat conversion in vertebrae were described both for children and adults. Our aim was to evaluate the T1-weighted bone marrow pattern of the vertebral bodies in various sites along the scoliotic spine of children with adolescent idiopathic scoliosis (AIS). METHODS: We retrospectively evaluated spine MRI studies of children with AIS. Scoliosis radiographs were assessed for type of curvature according to the Lenke classification. A paediatric neuroradiologist assessed the T1-weighted signal of vertebral bodies in comparison with the adjacent disc and distinct patterns of fatty conversion within the apical and stable vertebral bodies. Statistical assessment was performed. RESULTS: MRI study of the spines of 75 children with AIS were assessed, 59 (79%) of whom were female, with an age range of nine to 19 years. The relative overall T1-weighted signal intensity of the vertebral body bone marrow relative to the intervertebral disc was hyperintense in 76% and isointense in 24%. Fatty conversion grade of the stable vertebra was higher than the apex vertebra (p = 0.0001). A significant tendency to have more advanced fat conversion patterns in the apex vertebra up to age 13.5 years old compared with adolescents above that (p = 0.015) was seen. CONCLUSION: This preliminary study suggests a different pattern of bone marrow conversion in AIS from the normal physiologic pattern described in the literature. Whether these changes are secondary to the biomechanics of the curved spine or may suggest that bone marrow maturation rate and content have a role in the pathogenesis of AIS remains to be further researched. LEVEL OF EVIDENCE: Level III (Diagnostic Study).

Exploring motor and visual imagery in Amyotrophic Lateral Sclerosis.

Amyotrophic Lateral Sclerosis (ALS) is a motor neuron disease characterized by the progressive atrophy of both the first and the second motor neurons. Although the cognitive profile of ALS patients has already been defined by the occurrence of language dysfunctions and frontal deficit symptoms, it is less clear whether the degeneration of upper and lower motor neurons affects motor imagery abilities. Here, we directly investigated motor imagery in ALS patients by means of an established task that allows to examine the presence of the effects of the biomechanical constraints. Twenty-three ALS patients and 23 neurologically unimpaired participants have been administered with the (1) hand laterality task (HLT) in which participants were asked to judge the laterality of a rotated hand and the (2) mirror letter discrimination task (MLD) in which participants were asked to judge whether a rotated alphanumeric character was in its canonical or mirror-reversed form (i.e. control task). Results show that patients present the same pattern of performance as unimpaired participants at the MLD, while at the HLT, they present only partially with the effects of biomechanical constraints. Taken together, our findings provide evidences that motor imagery abilities, related to the mental simulation of an action, are affected by this progressive disease.

Whiplash associated disorders -- subjective complaints vs clinical and objective findings. A retrospective study of 866 patients.

The subjective complaints of 866 WAD (whiplash associated disorders) patients were recorded at a follow-up examination some 32 months after the accident. The complaints were compared to a number of relatively objective examinations -- X-ray, CT, MRI, EMG, Bone scan, and clinical assessment. Neck pain and radiating pain to the limbs were the major complaints. The big majority of the X-rays findings, both primary and late (98%), were found either non-pathological or indicating degenerative changes and old fractures. All positive CT and MRI findings not related to known degenerative changes and old fractures were considered relevant. Bone-scan and clinical findings not related to old injuries were considered to be relevant to the WAD. Positive EMG findings were considered relevant except for those related with incidental CTS. Comparing the various testing modalities, CT and EMG were found positive in 25% and 33% of the tested sample (11% and 12% of the whole WAD patients), accordingly. Bone-scan and MRI were conducted in a much smaller sample of the patients, and only 33% and 25% (3% and 2% of the whole population) were found pathologic, accordingly. Clinically, C-C (chin-chest touch) and RoM tests identified 75 (9%) and 58 (7%) of the pathologic population, accordingly. Excluding degenerative changes and incidental CTS, only 25% of the patients had any objective supporting findings.

Antagonization of TNF attenuates systemic hemodynamic manifestations of envenomation in a rat model of Vipera aspis snakebite.

OBJECTIVES: Tumor necrosis factor (TNF) has been reported as a mediator of local tissue injury following snake envenomation in an intact rat model. We investigated whether systemic release of TNF occurs following Vipera aspis envenomation. We further analyzed the possible connection between envenomation-related hemodynamic depression and TNF antagonization (TNF antibodies or soluble TNF receptor). DESIGN: A prospective, randomized, controlled experimental study using a rat model for snake envenomation. SETTINGS: A medical university hospital research laboratory. INTERVENTION: Eighty rats (300-400 g) were divided into four groups (n = 20): control and three experimental groups. Intramuscular injection of V. asis 500 microg/kg was administered to the three experimental groups: venom only (group 1), venom and 40 microg anti-TNF antibodies (group 2), venom and 250 microg soluble TNF receptor (p55-R; group 3). Hemodynamic parameters were monitored up to 4 h following venom injection. MEASUREMENTS AND RESULTS: A significant hemodynamic deterioration (reduction in heart rate and blood pressure) occurred 30 min following venom injection in group 1 compared to groups 2 and 3, where hemodynamic parameters remained stable throughout the 4 h observation period. Serum levels of TNF were detected 15 min after venom injection and peaked after 2 h at 485+/-12 pg/ml. CONCLUSIONS: The hemodynamic consequences of intramuscular injection of V. aspis venom can be blunted in a rat by systemic antagonization of TNF activity prior to venom injection. The poisonous hemodynamic effects of the V. aspis venom might be caused by systemic release of TNF.

"Floating tibia-talus complex"--an ipsilateral dislocation of the knee and the subtalar joint in an elderly patient: a case report and review of the literature.

Knee dislocation is defined as a radiographically confirmed total loss of the tibiofemoral articulation. This rare injury is believed to be the result of a high-impact trauma. Knee dislocations are classified according the direction of tibial displacement with respect to the femur. Subtalar dislocation is the simultaneous dislocation of the distal articulations of the talus at both the talocalcaneal and talonavicular joints. These injuries are also quite rare and are mostly (80%-85%) classified as medial subtalar dislocations with the calcaneus lying medially, the head of the talus being prominent dorsolaterally and the navicular located medial and dorsal to the talar head. The authors report the case of an elderly patient who suffered ipsilateral anterior dislocation of his left knee and medial subtalar dislocation of his left foot. The authors believe this to be the first presentation in the English literature of an ipsilateral combination of these two injuries on the same limb.

Xanthine oxidase and tumor necrosis factor alpha: possible mediators of remote tissue injury after viper envenomation.

BACKGROUND: Tumor necrosis factor is associated with various local and systemic inflammatory sequelae following snakebite. Xanthine oxidase is a principal mediator of remote tissue injury (e.g., lungs, heart, liver). OBJECTIVE: To investigate in a snakebite-like animal model the as yet unexplored role of TNF and XO in mediating organ damage following snakebite. METHODS: Sprague-Dawley rats were injected intramuscularly with a non-lethal 500 micrograms/kg dose of Vipera aspis venom (n = 10) or saline (n = 10). Blood pressure and heart rate were continuously monitored, TNF-alpha was measured in the blood, and total XO + xanthine dehydrogenase activity was assessed in various tissues. Lung histology and permeability indices were analyzed. RESULTS: Venom injection caused a significant (P < 0.05) reduction in both heart rate and invasive arterial pressure. The blood circulating TNF levels were significantly higher in the intoxicated group (P < 0.05 vs. saline group), with changes seen at 30 minutes from intoxication in both groups. Total XO + XDH activity in the kidney, lung and liver of the venom-injected group was significantly (P < 0.05) higher than in the saline group, while the activity in the heart was similar. CONCLUSIONS: The mediation of remote organ and hemodynamic changes following intramuscular injection of a non-lethal dose of Vipera aspis venom can be attributed partly to TNF and partly to XO. More research is needed to better understand the role of either compound and the time frame of their activity before specific antagonists can be introduced for snakebite management.

The use of three-dimensional computed tomography in evaluating snapping scapula syndrome.

This article evaluates imaging of the scapula and scapulothoracic joint in patients with snapping scapula syndrome. Between 1990 and 1996, a total of 20 patients (10 men and 10 women) with snapping scapula syndrome were evaluated. Diagnosis was based on patient complaints and physical examination findings. There were 26 affected scapulae (6 patients had bilateral presentation). Imaging of the scapula included plain radiography, computed tomography (CT), and 3-dimensional computed tomography (3-D CT) reconstruction. Plain radiography revealed bony incongruity between the anterior aspect of the scapula and the chest wall in 7 scapulae, CT revealed such incongruity in 19 scapulae, and 3-D CT revealed incongruity in all 26 scapulae. Treatment was conservative, consisting of nonsteroidal anti-inflammatory drugs, a physiotherapy program, and subscapular injection of a local anesthetic and steroids. In 5 patients who responded poorly to conservative treatment, the region responsible for the snapping was resected. Pain relief and resolution of the snapping were complete following surgery in 4 patients, while pain and crepitation persisted in the fifth. Three-dimensional CT is recommended as the main imaging modality in the evaluation of any patient with snapping scapula syndrome who is a candidate for surgical intervention.

Malignant bone and soft tissue tumors of the shoulder girdle. A retrospective analysis of 30 operated cases.

From 1988 to 1995, 30 patients (16 men) with malignant bone (n 23) and soft tissue (n 7) tumors of the shoulder girdle underwent surgery in our department. The mean age was 34 (6-80) years. 26 patients had primary and 4 had metastatic lesions. The average follow-up period was 3 (2-8) years, at the end of which 18 patients showed no evidence of disease, 2 were alive with disease, and 10 had died (9 because of tumor). 25 of the operations were limb-sparing procedures, while the other 5 were major amputations. Radical resection was performed in 4 patients, wide resection in 25 and marginal resection in 1. Local recurrence was observed in 2 patients. 10 patients with stage IIB tumors of the proximal humerus underwent extraarticular humeral and glenoid resection. Reconstruction was performed with either a modular or an improvised implant. Following surgery, those patients had a concave contour of the shoulder and poor abduction ability. Overall functional outcome was good in 18 patients, moderate in 11 and poor in 1. No correlation was found between functional outcome and reconstruction technique.

Efficacy of closed wound drainage after total joint arthroplasty. A prospective randomized study.

The efficacy of closed suction drains following joint arthroplasty operations was prospectively evaluated in a randomized manner. All 88 patients allotted to primary knee or hip arthroplasty operations during a 6-month period were included in the study. Drains were used in 32 of 58 patients following total knee arthroplasty and in 18 of 30 total hip arthroplasties. No statistical difference was found in the hemoglobin levels measured following surgery and in the number of patients requiring blood transfusions between the two groups after total hip arthroplasty (P = .06). The power of the test to detect a difference of 2 g% in hemoglobin levels is 94%. Two patients from each group had a transient serous discharge for 3 to 4 days following surgery and none had wound infections. Significantly more blood transfusions were needed in patients with drains following total knee arthroplasty compared with patients without drains (0.7 unit per patient versus 0.2 unit per patient, P = .005) to maintain the same hemoglobin blood levels. Patients with no drains had significantly more transient sterile serous wound discharge than patients with drains (38.4% vs 12.5%, P = .02). Superficial wound infection necessitating antimicrobial medication developed in one patient with drains and in no patients in the other group. These results suggest that drains may not be needed following total hip arthroplasty. The more common serous wound discharge may be of some concern when drains are not used following total knee arthroplasty.

[Cognitive evaluation of patients with temporal epilepsy, candidates for surgery]. / Valutazione cognitiva dei pazienti con epilessia temporale candidati ad intervento chirurgico.

We provide a short overview on selected aspects of the neuropsychology of patients with temporal lobe epilepsy candidate to surgery. The possible impairment of verbal and non verbal memory is treated in particular. We also present the neuropsychological test battery that we use for the cognitive assessment of such patients before surgery and in the follow-up phase.

Improvement of left visuo-spatial hemineglect by left-sided transcutaneous electrical stimulation.

The effects of transcutaneous electrical stimulation on left visuo-spatial hemineglect, assessed by a visuo-motor exploratory task (letter cancellation), were investigated in patients with right hemisphere lesions. In Experiment 1 left neck stimulation temporarily improved the deficit in 13 out of 14 patients (93%), while stimulation of the right neck had no positive effects, worsening exploratory performance in nine patients (64%). Experiment 2 showed that left neck stimulation temporarily improved neglect also when head movements were prevented by a chin-rest. In Experiment 3, stimulation of both the left hand and left neck had comparable positive effects on visuo-spatial hemineglect. These results are interpreted in terms of: (1) non-specific activation of the right hemisphere, contralateral to the stimulation side; (2) specific directional effects of left somatosensory stimulation on the egocentric co-ordinates of extra-personal space, which in neglect patients are distorted towards the side of the brain lesion.

[Fetal heart rate monitoring in ambulatory and resting mothers].

The nonstress test (NST) to assess fetal wellbeing is done over the course of 30 minutes with the patient lying in the semi-Fowler position. The test relates changes in fetal heart rate to fetal movement, and uterine contractions are also recorded. The purpose of this study was to determine whether the NST is affected by maternal ambulation, so that the patient must be lying down when it is performed. We did the NST during ambulation as well as with the patient reclining. There were no differences in fetal heart rate and/or uterine activity between the 2 tests. 50% of the women preferred the ambulatory method while 25% preferred reclining and 25% expressed no preference. We conclude, that the ambulatory NST is an acceptable alternative to the conventional test with the patient reclining.

Intraoperative and postoperative subtrochanteric fracture of the femur associated with removal of the Zickel nail.

Twelve patients, whose ages ranged from twenty-one to sixty-eight years (mean, 32.6 years) and in whom a Zickel nail had been used to treat an acute traumatic subtrochanteric fracture of the femur, had fourteen subtrochanteric refractures that were associated with removal of the nail. The refracture was always different from the original fracture in type and site (being located an average of 4.3 centimeters distal to the lesser trochanter). Five of the refractures were recognized intraoperatively at the time of removal of the nail. Because of this potential complication, we believe that the Zickel nail should not be used in the treatment of subtrochanteric fractures of the femur in young patients.

Fractures of the tibial plafond.

The cases of one hundred and forty-two patients with 145 fractures of the ankle joint that involved the tibial plafond were reviewed. The fractures were classified into five types according to the severity of the injury. The methods of treatment were divided into two groups: open reduction and rigid internal fixation by the AO technique, and other methods. The most important variables that affected the final clinical result were the type of fracture, the method of treatment, and the quality of the reduction (p less than or equal to 0.05). The best results were obtained by rigid open reduction and internal fixation, with which 65 per cent of the more severe type-III, IV, and V fractures obtained a good or excellent result.