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Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay. Problem: The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings. Moreover, a prompt diagnosis is frequently delayed by the negative selection of trisomic cells in blood, with mosaicism percentage varying among tissues, which often entails the need for further testing. Purpose/topic: The aim of our work is to provide assistance in prenatal and postnatal genetic counseling by systematically delineating the current knowledge of the condition. This entails defining the prenatal and postnatal characteristics of the condition and presenting novel data from three cases, both prenatally and postnatally. Additionally, we report the developmental outcomes observed in two new patients.

OBJECTIVE: Spinal infections, represent quite rare but often severe conditions. However, due to symptoms' non-specificity and the lack of specific laboratory tests, diagnosis is often delayed with serious consequences for the patient's outcomes. The present investigation aimed at evaluating the role of procalcitonin (PCT) and other clinical features on the risk stratification and the clinical outcomes in spondylodiscitis patients treated in our Emergency Department. PATIENTS AND METHODS: The present investigation represents a single-center retrospective study. Clinical records of consecutive patients admitted to our Emergency Department from 1 January 2015 to 31 March 2021 were evaluated and patients with spondylodiscitis diagnosis in this period were recruited. Our primary outcome was the degree of autonomy of patients following the acute event. Our secondary outcome was the resolution of the infection. RESULTS: In the study period, a total of 345 patients were evaluated. Among these, 165 met the inclusion criteria, and constituted the study cohort. Concerning the primary outcome, we observed that the most significant predictive factors for being non-autonomous were elevated serum creatinine (> 1.05 mg/dl), Blood Urea Nitrogen ( BUN) > 23 mg/dl, Lactate dehydrogenase > 228 U/L, PCT > 0.11 ng/mL. Patients with higher PCT (PCT > 0.11 ng/mL) and higher BUN ( BUN > 23 mg/dl) had higher odds of infection persistence (the Odd Ratio, OR, were respectively 3.78 for PCT and 3.14 for BUN). CONCLUSIONS: PCT assay may play a role in diagnosing spondylodiscitis in an emergency setting. A PCT value > 0.11 ng/mL should be considered as a red flag, a predictor of worse clinical outcomes and persistence of infection.

PMCID: PMC8064827 DOI: 10.1055/s-0041-1722816

Background Anterior cervical diskectomy and fusion (ACDF) has been providing good surgical, clinical, and radiologic outcomes in patients suffering from cervical degenerative disk disease (DDD). However, the role of anterior plating is still debated, especially in three-level procedures. This study aimed to investigate long-term clinical and radiologic outcomes and complications after three-level contiguous ACDF without plating for cervical DDD. Methods Two institutional databases were retrieved (January 2009-December 2014) for patients treated with three-level contiguous ACDF without plating. Minimum follow-up (FU) was 5 years. Demographical data, smoking status, implant types, Neck Disability Index (NDI), visual analog scale (VAS) for neck pain, complications, fusion rate, adjacent segment degeneration (ASD), cervical lordosis (CL), and residual segmental mobility were evaluated. Results We enrolled 21 patients. Tantalum and carbon fiber cages were implanted, respectively, in 13 and 8 patients. The mean FU length was 5.76 ± 0.87 years. Mean NDI score was 78.29 ± 9.98% preoperatively and 8.29 ± 1.67% at last FU (p < 0.01), whereas mean VAS score decreased from 7.43 ± 1.14 preoperatively to 0.95 ± 0.95 at last FU (p < 0.01). Complications were one postoperative hematoma, one superficial wound infection, and five cases of postoperative dysphagia (recovered within 3 days). The fusion rate was 90% and ASD was reported in three (14%) cases. The mean CL was 6.33 ± 2.70 degrees preoperatively, 8.19 ± 1.97 degrees 3 months after surgery (p = 0.02), and 7.62 ± 1.96 degrees at latest FU. There was no residual mobility on every operated segment at last FU. The smoking status was an independent risk factor for nonfusion in this case series (p = 0.02). Conclusions Three-level contiguous ACDF without plating seems to be an effective treatment for cervical DDD. Properly designed comparative clinical trials are needed to further investigate this topic.

Back Pain (BP) is a common medical problem; anabolic hormones, through the modulation of oxidative stress (OS), could influence fracture risk. We evaluated the prevalence of anabolic hormonal deficiencies and their relationship with OS in males with BP, associated or not to nontraumatic fractures. 49 males with BP, from 36 to 80 years, were divided in two groups according to radiological evidence of nontraumatic fractures; group A (n=25): non-fractured; group B (n=24): fractured. A different prevalence of hormonal deficits was observed: 24% of hypotestosteronemia in A, 0% in B; 16% of GHD in A, 29% in B; Total Antioxidant Capacity (TAC) showed a trend toward higher levels in B. In A, despite lower TAC, a significant inverse correlation was present between TAC and IGF-1. A greater prevalence of GHD in patients with vertebral fractures was seen and, in a subgroup, OS could mediate the deleterious effects of hyposecretory GH state.

Background: Despite recent treatment developments, back pain and related disabilities still represent a challenge for practitioners. Among the available surgical techniques, many different features and outcomes have been investigated; however, aesthetic result was missing among them. The present investigation was designed to prospectively compare patient-oriented aesthetic results after minimally invasive surgery (MIS) and standard open surgery (SOS) for the lumbar spine. Methods: This was a prospective observational study with 1-year follow-up. Patients who underwent SOS were assigned to group 1 and MIS to group 2. Patient-oriented aesthetic result evaluation was collected using a dedicated visual aesthetic analogue scale. The Vancouver Scar Scale was used to exclude objective underlying influencing factors. The Oswestry Disability Index and a 10-point itemized visual analogue scale for back pain were administered to assess the clinical and functional status. Follow-up data were collected before discharge at 1, 6, and 12 months. Statistical analysis was conducted, and P < 0.05 was considered as significant. Results: We enrolled 74 patients, 44 in group 1 and 30 in group 2. The 2 groups were homogeneous for demographic and clinical data. No clinical or functional differences were measured at the end of follow-up. Visual aesthetic analogue scale reported greater mean values in group 1 at every follow-up time. Conclusions: Patients seem to prefer the aesthetic result from a single midline incision after SOS compared with MIS. The use of specific techniques could be considered if there is scientific evidence reporting greater aesthetic outcome, having similar clinical and functional ones.

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Purpose: The aim of the study was to evaluate the efficacy and safety of the direct lateral approach to the lumbar spine in the treatment of painful isthmic spondylolisthesis in adults. Methods: Twenty-one patients affected by isthmic spondylolisthesis and treated with extreme lateral interbody fusion and posterior percutaneous pedicle screw fixation were enrolled. All included patients were clinically evaluated with Oswestry Disability Index, SF36 and Visual Scale Anatomy (VAS) for back pain at 1, 3 months and at 1 year. Results: The mean correction of vertebral slippage measured on lateral lumbar X-ray was 56.3% (p = 0.002). The average preoperative VAS score was 7.1, at 1 year decreasing to 2.2 (p = 0.001). The patients had an average preoperative “Oswestry Disability Index” of 36.8 and 24.1% after 1 year (p = 0.02). The preoperative Short-Form 36 Physical Health was equal to 33.8, 72.1% after 1 month, to 76.3% after 3 months and to 83.2% (p = 0.001) after 1 year of follow-up. There were no signs of implant loosening at 1-year CT scan examination in any of the patients. Conclusion: The study showed that the extreme lateral approach to the lumbar spine in case of isthmic spondylolisthesis is a reliable and safe option to the most common open procedures. In the authors’ opinion, XLIF procedures allow a good correction of the listhesis associated with good clinical and radiographic results. Graphical abstract: These slides can be retrieved under Electronic supplementary material.[Figure not available: see fulltext.].

Objective: This study aimed to quantify the discrepancy between intraoperative and postoperative segmental lordosis in patients operated on for lumbar degenerative diseases, with 3 different fixation techniques: open posterolateral instrumentation alone (PLI) or in association with lumbar interbody cages (transforaminal lumbar interbody fusion [TLIF] or extreme lateral interbody fusion [XLIF]). Methods: We retrospectively reviewed all adult patients affected by single-segment degenerative spondylotic disease who underwent PLI alone or percutaneous posterolateral instrumentation (pPLI) in association with TLIF or XLIF between April 2015 and December 2017 at our institution. Group I included patients who underwent PLI with transpedicular screws and rods, interlaminar bilateral decompression, and posterolateral fusion with autologous bone chips. Group II included patients treated with pPLI + TLIF using a complete unilateral arthrectomy. Group III included patients operated on with minimally invasive retroperitoneal pPLI + XLIF. Results: No major complications were reported. The mean segmental loss of lordosis values ranged from 9.17% to 12.28% in Group I, from 6.31%–9.43% in Group II, and from 3.05%–4.71% in Group III. The statistical analysis revealed that pPLI + XLIF maintained a higher segmental lordosis than PLI and pPLI +TLIF in each operated segment (P < 0.05). pPLI + TLIF was more effective than PLI in reducing the loss of lordosis at L4-L5 and at L5-S1 (P < 0.05) but not at L3-L4 (P = 0.12). Conclusions: The documented mismatch between the preoperative and postoperative lumbar lordosis might affect the clinical outcome. Its relevance depends on the surgical technique used at the single level.

Purpose: The aim of the study is to assess and quantify the effectiveness of interbody lordotic cages applied by trans-psoas approach to improve radiographic parameters, showing the differences between completely mini-invasive and hybrid approach. Methods: We collected data of 65 patients affected by degenerative lumbar deformity/diseases and underwent mini-invasive lateral interbody fusion followed by percutaneous (group A, completely mini-invasive) or open (group B, hybrid) posterior instrumentation. A subgroup underwent anterior column realignment (ACR). We assessed statistical differences in preoperative and postoperative (at least 6-month) coronal and sagittal parameters, and disc angle (DA) at each level of cage application. Results: 107 lordotic cages were implanted. Group B had the most significant mean changes, especially in coronal Cobb angle, sagittal vertical axis, lumbar lordosis (LL), pelvic incidence-LL mismatch and DA. Concerning DA, at each level of lordotic cage application, in group A changed from −2.9° preop to −6.5° postop (p = 0.01); in group B, DA changed from −2.6° to −9.5° (p = 0.002) and from +1° to −13.2° in patients underwent ACR. Conclusions: Minimally invasive lateral lumbar interbody fusion is an effective technique in improving sagittal parameters. When combined with posterior open approach and/or application of ACR procedure greater corrections are possible.

Benign fibrous histiocytoma (BFH) is a rare skeletal tumor. Spinal localizations have been previously described in 17 cases, and this is the first report of BFH occurring at the lumbar spine in a pediatric patient.A 13-year-old male complained lower limb motor and sensory impairment with severe claudication and urination disorders. A huge intraspinal, extradural mass at L4-L5 level, clearly evident on a preoperative MRI, caused dislocation and severe compression of the cauda equina nerve roots. After a biopsy, confirming BFH, a tumor resection and L4-S1 vertebral arthrodesis was carried out. At 1 year follow-up, no recurrence was detached on postoperative MRI, with complete neurological recovery.Review of the literature is discussed. Histological examination is mandatory for a correct diagnosis and plan of treatment. None of the pediatric patients treated for BFH have ever shown local relapse.

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The Quality Handbook includes the description of the activities carried out in Radiotherapy and the methodology used to ensure the Quality Assurance according to the principles indicated in national and international documents of reference and the recommendations of accreditation agencies. The structure of the Quality Handbook, the main aspects of single chapters, the selected quality indicators undergoing inspections are analysed and procedures to be followed for changes and updating of the Quality Handbook are described. The Quality Assurance program is illustrated in another article of this issue.