Metabolic Analysis of Methylenetetrahydrofolate Reductase Single Nucleotide Polymorphisms (MTHFR 677C

Neural tube defects (NTDs) are among the most prevalent and debilitating birth defects with their causes are still unknown, despite mounting evidence that genetic and/or environmental factors may play a role. We aimed to analyze two single nucleotide polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene, serum folate and vitamin B12 status among a cohort of Egyptian children with NTDs and their mothers. A case-control study has been conducted on 50 Egyptian children with various types of NTDs and their mothers. They were comparable with 50 unrelated healthy, age and sex matched children and their mothers (50) selected as controls. Pediatric and neurosurgical assessments were performed to the included cases. Serum folate and vitamin B12 were measured using ELISA kits. MTHFR 677C

Outcome of Long-Segment Fixation versus Inclusion of the Fractured Level in Short-Segment Fixation for Thoracolumbar Junction Fractures.

Objective The aim of this study was to compare the radiological outcomes of long-segment fixation and short-segment fixation, including the fracture level in patients treated for thoracolumbar junction fractures. Methods Data collected from records of patients with thoracolumbar junction fractures who were operated at our department. Neurological evaluation was done using American Spinal Injury Association classification score. Radiological parameters used were the Cobb's angle, vertebral body compression ratio, the anteroposterior spinal canal diameter, and the anterior and the posterior vertebral body heights. Patients were divided into two groups: group A included patients who underwent long-segment fixation and group B included patients who underwent short-segment fixation with inclusion of the fracture level. Results The mean preoperative Cobb angle was 22.51 degrees in group A and 19.37 degrees in group B. Both groups showed improvement in the postoperative Cobb angle as the mean in group A was 14.17 degrees and in group B was 11.77 degrees. The mean preoperative compression ratio in group A was 82.8%, while in group B it was 76%. The postoperative mean in group A was 89.2%, while in group B, it was 84%. The mean preoperative anterior vertebral body height of the fractured vertebra in group A was 16.7 mm, while in group B, it was 15.18 mm. The mean preoperative posterior vertebral body height in group A was 16.33 mm and that of group B was 19.41 mm. The mean postoperative anterior vertebral body height in group A was 17.66 mm and that of group B was 17.10 mm. The mean postoperative posterior vertebral body height in group A was 17.11 mm and that of group B was 20.79 mm. Conclusion Posterior short-segment fixation with additional screws at the fracture level provides similar-if not better-clinical and radiological outcomes to long-segment fixation in the treatment of thoracolumbar junction fractures.

Circulating Ubiquitin Carboxyl Terminal Hydrolase L1 and Neuroglobin Levels in Traumatic Spinal Cord Injuries: Relation to Severity and Outcomes.

Introduction: Traumatic spinal cord injury (TSCI) is a life-threatening neurological disorder and there is a lack of biomarker research, particularly human studies that could help to categorize the severity and predict the outcome. We aimed to assess the role of serum Ubiquitin C-terminal hydrolase L1 (UCH-L1) and Neuroglobin (NGB) in predicting severity and outcome of TSCI. Methods: This prospective study included 63 participants categorized into 33 patients with various types of TSCI and 30 unrelated healthy volunteers. Neurosurgical [American spinal injury association (ASIA) impairment score (AIS)] and radiological [using spine computed tomography (CT) and magnetic resonance imaging (MRI)] assessments were performed on the included patients to determine the severity and the level of injury with neurological follow-up of patients within 6 months post-injury. Serum UCH-L1 and NGB were measured for all participants using commercially available ELISA assay kits. Results: Of the included patients, 20 (60.60%) had partial SCI and the remaining 13 patients (39.39%) had complete SCI. On follow-up, 19 patients (57.57%) showed improved AIS, while 14 cases (42.42%) did not show any improvement in their AIS scores. There was significantly higher median serum UCHL1 value among cases compared to controls (1723 pg/mL and 657 pg/mL, respectively), p ˂ 0.05. There was an insignificant rise of serum NGB levels among cases in comparison with the controls (15.2pg/mL and 7.52pg/mL, respectively, p ˃ 0.05). Significantly lower initial median serum UCHL1 levels (pg/mL) were observed in patients with improved AIS during the neurological follow-up compared with those who did not show any improvement in their AIS score (1723, and 4700 respectively, p ˂ 0.05), with lack of significant difference in the initial median serum NGB levels, p ˃ 0.05. Conclusion: Initial serum UCHL1 assay could be a helpful marker in reflecting the degree of TSCI and predicting its outcome, though NGB needs further assessment.

Rotation Advancement Keystone Flap for Closure of Large Myelomeningocele Defects.

INTRODUCTION: Myelomeningocele is the most common form of neural tube anomalies. Early reliable skin coverage should be achieved to reduce central nervous system infections. The keystone flaps are gaining popularity for myelomeningocele defect reconstruction. However, the use of a traditional keystone flap is limited in very wide or transversely oriented myleomeningocele defects with inadequate lateral tissue laxity. In this study, we present our successful experience using modified rotation advancement keystone flaps for closure of the transversely oriented myelomeningocele defects. PATIENTS AND METHODS: Between April 2019 and April 2020, the modified rotation advancement keystone flap was used for reconstruction of transversely oriented myelomeningocele defect in 7 patients (5 males and 2 females) with average age of 14 days. The localization of the lesions was lumbosacral in 5 patients and thoracolumbar in 2 patient. The average myelomeningocele defect width was 6.4 cm, whereas the average defect length was 5.7 cm. The following information was evaluated: the flap dimensions, operative time, and postoperative complications. RESULTS: All patients had uneventful operations, except for 1 case of superficial epidermolysis over flap tip, which settled with conservative wound management. Immediate venous congestion was detected in 2 patients that completely resolved. Otherwise, all wounds healed without any evidence of complications. The mean follow-up was 4 months. CONCLUSIONS: Although the conventional keystone flap seems to have geometric constraints to close a transversally oriented myelomeningocele defect, the modified rotation advancement keystone flap serves as a superior alternative and effective option for closure transversally oriented defect.

The Keystone Island Perforator Flap in Reconstruction of Large Myelomeningocele Defects.

BACKGROUND: Reconstruction of the skin defect after myelomeningocele repair is a crucial step that influences the quality of the surgical outcome. Keystone perforator flap is an islanded fasciocutaneous flap based on random regional perforators, which is advanced to adjacent defects. It has become a reliable method of locoregional reconstruction in various body parts with minimum morbidity. The aim of this study was to evaluate our clinical experiences in using keystone perforator flaps as an alternative surgical method for closure of large myelomeningocele defects. METHODS: In this study, the keystone island perforator flap was used for reconstruction of large myelomeningocele defect in 7 patients (5 males and 2 females) aged between 7 days and 4.5 months. The defect size was 5.9 cm × 6.5 cm on average (range, 4.5 × 5 cm to 7 × 9 cm). The localization of the lesions was lumbosacral in 6 patients and thoracolumbar in 1 patient. RESULTS: In all patients, tension-free closure was obtained and healing was successful without any complications, except 1 infection, which resolved with conservative wound management. There was no patient with late breakdown of the wound or associated cerebrospinal fluids fistula formation for a mean of 13 months (range, 4 months to 2 years). CONCLUSIONS: The keystone perforator flap technique is an effective, reliable, and durable reconstructive option which enables the reconstructive surgeon to attain a tension-free closure of sizable meningomyeleocele defects with no late wound breakdown or associated cerebrospinal fluids fistula formation and negligible donor site morbidity.

Sphenoid meningioma enplaque with proptosis: Surgical excision, reconstruction and outcome.

OBJECTIVE: To evaluate surgical outcome and reconstruction of bone defects after excision of sphenoid meningioma enplaque. PATIENT AND METHODS: Between June 2012 and May 2016, a series of 15 patients presented by proptosis attended to neurosurgery departments, Assiut university hospital, Qena university hospital, South Valley University and, These patients were diagnosed with sphenoid meningioma enplaque by fulfilling its criteria by neuroimaging (sheet-like meningioma and hyperostosis). All patients received preoperative imaging investigations including Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) to evaluate the extension of both tumor components - soft tissue and bone involvement. Fifteen patients were operated by pterional approach under general anesthesia. RESULTS: Fifteen patients with meningioma enplaque were treated surgically. The mean age of patients at the time of admission was 46.5 years, age ranged between 35-56 years. 80% of patients were females (female to male ratio was 4:1). Ten (66.7%) patients have left sided lesion representing. Proptosis was the main presented manifestation in all patients. Complete tumor excision was done in 10 patients while incomplete excision was done in the rest of patients. Proptosis was improved post-operatively in patients presented by it: Ten (66.7%) patients had complete improvement while the other five (33.3%) patients improved significantly. No mortality occurred in our study. A mean follow-up period of 2.1 years (range: 4 months to 4 years), three (20%) patients have tumor recurrence. CONCLUSIONS: Total excision of Sphenoid meningioma enplaque carries difficulties and high rate of post-operative morbidity. Early detection with experienced neurosurgeons, microsurgical techniques and availability of high speed drill decrease the risk of post-operative morbidity. Reconstruction of dural and bone defect is very important regarding functional and cosmetic aspects.