Lauritsenrosen3432

OBJECTIVE Combined metopic-sagittal craniosynostosis is traditionally treated with open cranial vault remodeling and fronto-orbital advancement, sometimes in multiple operations. Endoscopic treatment of this multisuture synostosis presents a complex challenge for the surgeon and orthotist. METHODS The authors retrospectively analyzed the preoperative and 1-year postoperative CT scans of 3 patients with combined metopic-sagittal synostosis, all of whom were treated with simultaneous endoscope-assisted craniectomy of the metopic and sagittal sutures followed by helmet therapy. Established anthropometric measurements were applied to assess pre- and postoperative morphology, including cranial index and interfrontal divergence angle (IFDA). Patients' measurements were compared to those obtained in 18 normal controls. RESULTS Two boys and one girl underwent endoscope-assisted craniectomy at a mean age of 81 days. The mean preoperative cranial index was 0.70 (vs control mean of 0.82, p = 0.009), corrected postoperatively to a mean of 0.82 (vs control mean of 0.80, p = 0.606). The mean preoperative IFDA was 110.4° (vs control mean of 152.6°, p = 0.017), corrected postoperatively to a mean of 139.1° (vs control mean of 140.3°, p = 0.348). The mean blood loss was 100 mL and the mean length of stay was 1.7 days. No patient underwent reoperation. The mean clinical follow-up was 3.4 years. CONCLUSIONS Endoscope-assisted craniectomy with helmet therapy is a viable single-stage treatment option for combined metopic-sagittal synostosis, providing correction of the stigmata of trigonoscaphocephaly, with normalization of the cranial index and IFDA.OBJECTIVE Craniocervical junction-related syringomyelia (CCJS) is the most common form of syringomyelia. Approximately 30% of patients treated with foramen magnum decompression (FMD) will show persistence, recurrence, or progression of the syrinx. The authors present a pilot study with a new minimally invasive surgery technique targeting the pathophysiology of CCJS in adult patients. METHODS The authors retrospectively analyzed the clinical and radiological features of a consecutive series of patients treated for CCJS. An FMD and FM durectomy were performed through a 1.5- to 2-cm skin incision. Then arachnoid adhesions were cleared, creating a permanent communication from the fourth ventricle to the new paraspinal extradural cavity (obexostomy) and with the spinal subarachnoid space. The hypothesis was that the new CSF pouch acts like a pressure leak, interrupting the CCJS pathogenesis. RESULTS Twenty-four patients (13 female, 21-61 years old) were treated between 2014 and 2018. The etiology of CCJS was Chiarvasive FM durectomy and obexostomy is a safe and effective treatment for CCJS and for patients who have not responded to other treatment.OBJECTIVE In this study, the authors compared the efficacy and safety of stereotactic radiofrequency thermocoagulation (SRT) and resective surgery (RS) for patients with hypothalamic hamartoma (HH). METHODS The authors included all patients with HHs who were treated by SRT or hamartoma resection. Seizure outcomes were assessed by blinded observers according to the International League Against Epilepsy (ILAE) classification. Favorable seizure outcomes were defined as ILAE classes 1 and 2, and unfavorable seizure outcomes were defined as ILAE classes 3-6. RESULTS Twenty-nine patients who underwent SRT or RS met the inclusion criteria; 3 were excluded because they had completed less than 12 months of follow-up. Most of the patients (20 of 26; 76.9%) had small HHs (i.e., maximum HH diameter less than 20 mm). The patients' follow-up time ranged from 12 to 66 months (median 60 months). At the last follow-up, favorable outcomes were observed in 9 patients (69.2%) who had undergone SRT and 10 patients (76.9%) who had undergone HH resection. CBR-470-1 solubility dmso No significant difference was found in seizure outcomes between SRT and RS recipients. Patients with giant HHs were more likely than patients with smaller tumors to undergo multiple resections (p = 0.043, univariate logistic regression; significant). However, no significant difference was found between SRT and RS recipients in terms of the number of procedures per patient. SRT recipients had fewer and less-severe adverse events than RS recipients. CONCLUSIONS For patients with small HHs, SRT provides similar seizure outcomes to RS with a less invasive procedure. Patients who underwent SRT experienced fewer and lighter adverse effects than patients who had RS. Patients with giant HHs were more likely to undergo multiple HH resections.N/A.This study aimed to evaluate liver involvement in patients with Carney complex (CNC) based on a large cohort and to analyze any germline PRKAR1A genotype - phenotype association of liver disease. The study included 83 patients with CNC, followed between 1995 to 2018 at a tertiary research center. We reviewed liver images, recorded types and number of lesions and analyzed per genotype all patients were sequenced for the PRKAR1A gene. A total of 29/83 patients (24.0%) had liver radiological findings. Patients with liver lesion had a significantly higher rate of pathogenic variants detected in the PRKAR1A gene (72.4% vs. 38.9%, p=0.005, respectively). Patients with a pathogenic variant detected on germline PRKAR1A analysis had a higher risk for having a liver lesion compared with patients with wild-type (WT) PRKAR1A alleles (21/42 (50.0%) vs. 8/41 (19.5%), respectively, p=0.004). Among patients with liver lesions, those with a nonsense PRKAR1A pathogenic-variant had more liver lesions (7/7) than among those with other pathogenic-variant types (8/22, p=0.001). In conclusion, patients with CNC, particularly with a PRKAR1A pathogenic-variant, have a higher rate of liver lesions. Routine liver imaging should be considered in this high-risk population.Pharmacologic treatment of acromegaly is currently based upon assay-error strategy, the first-generation somatostatin receptor ligands (SRL) being the first-line treatment. However, about 50% of patients do not respond adequately to SRL. Our objective was to evaluate the potential usefulness of different molecular markers as predictors of response to SRL. We used somatotropinoma tissue obtained after surgery from a national cohort of 100 acromegalic patients. Seventy-one patients were treated with SRL during at least 6 months under maximal therapeutic doses according to IGF1 values. We analyzed the expression of SSTR2, SSTR5, AIP, E-cadherin, Ki-67, KLK10, DRD2, ARRB1, GHRL, In1-Ghrelin, PLAGL1 and RKIP by RT-qPCR, and mutations in GNAS gene by Sanger sequencing. The response to SRL was categorized as complete response (CR), partial (PR) or non-response (NR) if IGF1 was normal, between >23 SDS IGF1 at 6 months follow-up, respectively. From the 71 patients treated, there were 27 CR (38%), 18 PR (25%) and 26 NR (37%).