From Spinal Ependymoma to Superficial Siderosis: A Bottom to Top Cause of Progressive Neurological Deterioration.

Superficial siderosis (SS) is an infrequent condition characterized by hemosiderin deposition in the central nervous system, resulting from chronic subarachnoid hemorrhage, often linked to dural mater diseases. Through a case report of a 50-year-old male with severe sensorineural hearing loss and newly diagnosed epilepsy, we explore SS triggered by a spinal ependymoma, diagnosed via resonance magnetic imaging (MRI). This case highlights the necessity of comprehensive neuroaxis imaging to identify treatable etiologies. The complexity of SS, with its varied clinical presentations, necessitates early detection and a multidisciplinary treatment approach. Despite limited treatment options and the uncertain efficacy of therapies like deferiprone, early intervention is crucial for mitigating irreversible neurological damage and enhancing patient prognosis.

Coccygeoplasty: preliminary experience with this new alternative treatment of refractory coccydynia in patients with coccyx hypermobility.

BACKGROUND: Coccydynia has many causes, including fracture, subluxation, and hypermobility of sacrococcygeal segments. Existing treatments are limited in their effectiveness. Coccygeoplasty (CP) is a relatively new, minimally invasive treatment that appears to address this difficult clinical challenge. OBJECTIVE: To describe clinical results at the time of the procedure and at 3- and 12-months' follow-up of patients with coccydynia related to subluxation and coccyx hypermobility treated with the CP technique. Additionally, to determine if there is any correlation between the final imaging and clinical results at 3- and 12-months' follow-up. METHODS: A prospectively maintained database was used, and all patients who underwent CP for chronic coccydynia between January 2005 and October 2018 were retrospectively reviewed. All the patients had painful hypermobility (greater than 25°) with anterior flexion confirmed on radiological imaging. Alternative causes of coccydynia were excluded using CT and MRI. Procedures were performed under local anesthesia with combined fluoroscopic and CT guidance. Clinical follow-up was performed at two time points: 3 and 12 months after treatment using the Visual Analogue Scale (VAS). RESULTS: Twelve patients were treated in a single center. No procedural complications occurred. At 3- and 12-months' follow-up, the majority (75%) of patients had significantly lower VAS scores than at baseline, with mean changes of 3.5 and 4.9, respectively. There was no pain recurrence at 12 months and just one patient had no improvement of the pain. Follow-up CT images confirmed fixation of the sacrococcygeal bone segments in nine patients; however, no correlation was found between final imaging results and clinical outcome (p=0.1). CONCLUSIONS: Patients with refractory painful coccyx subluxation and hypermobility undergoing CP have a favorable clinical response at 3- and 12-months' follow-up. Further studies are required to validate this technique and to identify predictors of treatment response. Coccygeoplasty may be considered a reasonable alternative to coccygectomy.

Cystic Lymph Node Identification Is More Reliable Than Critical View of Safety in Difficult Cholecystectomies.

BACKGROUND: The cystic lymph node (CLN) represents an anatomic safety marker and a surrogate marker of technique during laparoscopic cholecystectomy (LC). We aim to demonstrate the value of CLN in comparison to the critical view of safety (CVS) and study the effects of increasing difficulty on the 2 approaches. METHODS: A prospective study of consecutive LC was conducted. Patient demographics, type of admission, clinical presentation, operative difficulty grade, visualization of CLN, identification of CVS, operative time, and complications were recorded and analyzed. RESULTS: Of 393 LCs, half of the admissions were emergencies. Thirty-four percent had obstructive jaundice or acute cholecystitis. The CLN was visually identified in 81.7% with a small difference between operative difficulty grades 1 to 3 versus 4 to 5. Although CVS was unachievable in 62 patients, 43 (69.4%) still had an identifiable CLN. The median operating time was 68 minutes with 1 mortality but no conversions or intraoperative complications. CONCLUSIONS: Identifying the CLN during LC could compliment the CVS in avoiding major ductal injury. Dissecting lateral to the CLN to commence the process of displaying the cystic pedicle structures may be a strategy in safely achieving the CVS. During the more difficult LC where displaying the CVS is impossible, the CLN may be the key anatomic landmark.

Intra-osseous basivertebral nerve radiofrequency ablation (BVA) for the treatment of vertebrogenic chronic low back pain.

STUDY DESIGN: Prospective experimental uncontrolled trial. BACKGROUND: Vertebrogenic pain is a frequently underestimated cause of chronic low back pain (LBP). Vertebral endplate degeneration, characterized by cortical bone damage and subchondral bone inflammatory reaction, is a significant source of LBP, the responsible of the pain transmission being the Basivertebral Nerve (BVN). Radiofrequency ablation of the BVN (BVA) leads to thermal injury of nerve tissue and interruption of the of chronic vertebrogenic pain transmission. PURPOSE: The aim of this study is to evaluate the effectiveness, in terms of pain and disability reduction, of percutaneous (BVA) in treating patients affected by vertebrogenic chronic LBP. Moreover, as a secondary endpoint, the purpose is to assess the feasibility and safety of a percutaneous CT-guided technique. METHODS: We performed percutaneous CT-guided BVN ablation in 56 consecutive patients presenting with vertebrogenic chronic LBP in local anesthesia using an articulating bipolar radiofrequency electrode (STAR™ Tumor Ablation System Merit). A 1-month follow-up MRI was performed to evaluate the ablation area in order to assess the target success of the procedure. A 3-month follow-up CT study was performed to evaluate bone mineral density in order to exclude structural bone abnormalities that might have been induced by the treatment. Pre- and post-procedure pain and disability levels were measured using the visual analogue scale (VAS) and Oswestry Disability Index (ODI). A 2-cm improvement threshold was set as clinical success for the VAS score and a 10-point improvement threshold was set as clinical success for the ODI score. RESULTS: At 3- and 12-month follow-up, VAS and ODI scores decreased significantly compared to baseline. Clinical success was reached in 54/56 patients (96.5%) for pain and 54/56 patients (96.5%) for disability, exceeding significantly the MCID. CT-assisted targeting of the ablation zone was determined successful in 100% of patients. Mean operative time was 32 min. No immediate or delayed complications were detected. CONCLUSIONS: Percutaneous CT-guided intra-osseous BVA seems to be a safe, fast, and powerful technique for pain relief in patients with vertebrogenic chronic LBP, when the selection of patients is based on a multidisciplinary approach including both conventional Diagnostic Radiology and Nuclear Medicine imaging.

One-session laparoscopic management of Mirizzi syndrome: feasible and safe in specialist units.

BACKGROUND: To evaluate the laparoscopic management of Mirizzi syndrome, seldom diagnosed preoperatively causing difficulty when performing cholecystectomy and increasing complication risks. METHODS: Analysis of a prospective single-surgeon database of 5700 laparoscopic cholecystectomies found 58 Mirizzi syndrome cases. They were managed with an intention to treat during the index admission according to protocol of single-session management of bile duct stones. RESULTS: 38/58 patients were females (65.5%). The median age was 55 years. 53 cases were emergency admissions. 34 cases (58.6%) only had ultrasound scanning. Operative difficulty was Grade IV in 34 cases (58.6%) and Grade V in 20 (34.5%) (Nassar Scale). There were 33 Mirizzi Type IA, 7 Type IB, 16 Type II and one each of Type III and Type IV. Bile duct exploration was performed in 94.8% through choledochotomy/ transfistula in 58.6% or transcystic in 36.2%. Four cases required conversion to open. Postoperative morbidity occurred in 29%. Two 30-day mortalities occurred from pneumonia in two elderly patients who were late referrals. CONCLUSION: Although the utilization of the laparoscopic approach in managing bile duct stones is not currently widely practiced it was safer in this series than in reported series of open surgery in Mirizzi Syndrome. The optimal approach to Mirizzi Type II is via cholecystocholedochal fistula to explore the bile duct then drain with T-tube through the fistula. It is unnecessary to perform bilioenteric bypass in majority of cases, reducing the morbidity and mortality.

Posterior reversible encephalopathy syndrome associated with the use of chemotherapeutic agents: a rare complication after treatment with vinorelbine.

The posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome characterised by a combination of headache, encephalopathy, seizures and visual disturbances, associated with high-intensity abnormalities on T2-weighted images affecting subcortical white and grey matter of the occipital and parietal lobes. Among other causes, PRES has been associated with the use of several medications including chemotherapeutic agents. Here we report a case of a 65-year-old patient with squamous cell carcinoma of the lung treated with cisplatin/vinorelbine. Following the second administration of vinorelbine, she was admitted to the hospital for a generalised seizure. Blood pressure was just slightly elevated and, except for drowsiness, she had a near-normal neurological examination. MRI corroborated the diagnosis. Vinorelbine-induced PRES has been reported only once in the literature, also in association with cisplatin. Our case underlines the role of vinorelbine and suggests that its association with cisplatin in this setting may enhance the risk of PRES.

Screening colonoscopy and risk of adverse events among individuals undergoing fecal immunochemical testing in a population-based program: A nested case-control study.

BACKGROUND: Screening by means of biennial fecal occult blood test has provided a reduction in overall colorectal cancer mortality. Notwithstanding, we should not underestimate the harms that it can produce. AIM: The aim of this article is to identify the independent risk factors of complications after a screening colonoscopy. METHODS: A six-year, nested case-control study was conducted. Mortality/complications within 30 days after colonoscopy were registered and its predictors identified through logistic regression. RESULTS: After 39,254 colonoscopies, the complication rate was 1.0%. Independent predictors were sex (OR 1.68 for men; CI 95% 1.18-2.39), ASA physical status classification system (OR 1.73 for ASA II-III; CI 95% 1.53-3.69), history of abdominal surgery (OR 2.37; CI 95% 1.72-4.08), diverticulosis (OR 2.89; CI 95% 1.94-4.30), inadequate cleansing (OR 29.35; CI 95% 6.52-132.17), detection of advanced neoplasia (AN) (OR 4.92; CI 95% 3.29-7.36), detection of stage I adenocarcinoma (OR 9.44; CI 95% 4.46-20.0), polyps in right colon OR 2.27 CI 95% 1.38-3.74) and complex polypectomy (OR 2.00; CI 95% 1.25-3.20). The logistic model explained 82% of the complications (CI 95% 0.798-0.854, p < 0.001). CONCLUSIONS: Colonoscopy, with or without removal of a lesion, is an invasive procedure with a non-deniable risk of major complications. Factors like inadequate cleansing or detection of AN are determinants. Therefore, it is vital to know which aspects predict their appearance to implement countermeasures.

Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation.

INTRODUCTION: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified. We describe a Portuguese family harboring a novel CCM1 mutation. CASE PRESENTATION: The proband is a woman who at the age of 55 years started to have complex partial seizures and episodic headache. Although nothing was found during her neurological examination, brain MRI showed bilateral, supra- and infratentorial cavernomas. She had a sister who, at the age 61 years, suffered a tonic-clonic seizure. Neurological examination was normal and imaging investigation demonstrated a right frontal intracerebral hemorrhage and multiple cavernomas. In the following years, she suffered several complex partial seizures and had a new intracerebral hemorrhage located in the right temporal lobe. Genetic analysis was performed and a novel nucleotide substitution, i.e. c.1927C>T (p.Gln643*) within the exon 17 of the CCM1 gene, was detected in both sisters. The substitution encodes a stop codon, with a consequent truncated KRIT1 protein, therefore supporting its pathogenic role. Further affected family members were detected, suggesting an autosomal dominant pattern of inheritance. CONCLUSION: We report a Portuguese family with a novel CCM1 (KRIT1) mutation - c.1927C>T (p.Gln643*). A better knowledge of the phenotype-genotype correlation is needed to improve the management of CCM patients.

Colorectal cancer in a second round after a negative faecal immunochemical test.

OBJECTIVE: The faecal immunochemical test is one of the tests recommended by scientific societies for colorectal cancer (CRC) screening in average-risk populations. Our aim was to evaluate the characteristics of CRC detected in a second round of screening after negative results in a first round. METHODS: We studied patients in whom CRC was detected in a screening programme. This programme included asymptomatic individuals between 50 and 69 years old and offered tests every 2 years. A total of 363,792 individuals were invited to participate in the first round of faecal immunochemical test screening and 100,135 individuals in the second round after a first negative result. The screening strategy consisted of faecal testing of a single sample using an automated semiquantitative kit, with a cut-off of 20 µg haemoglobin (Hb)/g faeces. RESULTS: The rate of positive results was 6.9% (16,467/238,647) in the first round and 4.8% (3359/69,193) in the second round (P < 0.0005). Overall, 860 (0.36%) cases of CRC were detected in the first round and 100 (0.14%) in the second round (P < 0.005). The location of the cancer was proximal in 12.5 and 24% of cases detected in the first and second rounds, respectively (P = 0.008). Hb concentrations were higher in the first round (211 vs. 109 µg Hb/g faeces in the second round; P = 0.002). Multivariate analysis confirmed that, in the second round, CRC diagnosed was more often proximal (hazard ratio vs. first round, 2.4; 95% confidence interval, 1.3-4.4; P = 0.003) and the concentration of Hb/g faeces was lower (hazard ratio vs. first round, 2.1; 95% confidence interval, 1.3-3.5; P = 0.003). CONCLUSION: The CRC detection rate is lower in the second round of screening. Further, in the second round, CRC detected is more often in a proximal location and Hb concentrations are lower.

Gender and plasma iron biomarkers, but not HFE gene mutations, increase the risk of colorectal cancer and polyps.

A cohort study of patients included in the Basque Country colorectal cancer (CRC) screening programme was carried out to assess the risk of adenomatous polyps and CRC (P-CRC) associated with HFE gene mutations, with gender and with iron biomarkers (serum ferritin (SF), iron (Fe) and transferrin saturation index (TSI)). Among 432 included patients (mean age 59.8 years), 263 were men (60.9 %) and 169 women (39.1 %). P-CRC were identified in 221 patients (51.2 %) and no polyps (NP) in 211 patients (48.8 %). HFE mutations were identified in 43.8 % of the patients. C282Y/wt genotypic frequency was 6.8 % in the P-CRC group and 1.4 % in the NP group (p < 0.05). The allelic frequency was 3.8 versus 1.2 % (p < 0.05). For laboratory, all three iron biomarkers showed a statistically significant difference: mean Fe, 91.29 ± 34 for P-CRC and 80.81 ± 30.59 for NP group. Mean TSI for P-CRC was 24.95 ± 8.90 and 22.74 ± 8.79 for NP group. Mean SF 308.09 ± 536.32 for P-CRC and 177.55 ± 159.95 for NP group. In a multivariate logistic regression analysis, only male gender (odds ratio (OR) = 2.04, 1.29-3.22), SF (OR = 1.001, 1.0004-1.003) and Fe (OR = 1.01, 1.004-1.02) were related with the presence of CRC and adenoma. Men gender and raised serum iron biomarkers increase the risk of P-CRC.

Diagnostic performance of fecal immunochemical test and sigmoidoscopy for advanced right-sided colorectal neoplasms.

BACKGROUND: Colorectal cancer screening effect on right-sided colorectal neoplasia is limited. We compared fecal immunochemical test and simulated sigmoidoscopy diagnostic accuracy for advanced right-sided neoplasia detection. METHODS: We analyzed 1,292 individuals with complete screening colonoscopy with a fecal immunochemical test determination before colonoscopy. Sigmoidoscopy and "hybrid strategy" (sigmoidoscopy or fecal hemoglobin concentration ≥ 20 µg hemoglobin/g) diagnostic yield were simulated according to UK Flexible Sigmoidoscopy, Screening for COlon REctum (SCORE), and Norwegian Colorectal Cancer Prevention (NORCCAP) trials criteria to complete colonic examination. We compared sensitivity and specificity of both strategies and of "hybrid strategy" for advanced right-sided neoplasia with McNemar test. RESULTS: An advanced right-sided neoplasia was detected in 47 (3.6 %) subjects. A fecal hemoglobin concentration ≥ 20 µg hemoglobin/g was determined in 6.6 % of the subjects and 10.1, 12.7, and 23.5 % met UK, SCORE, and NORCCAP criteria, respectively. Fecal immunochemical test was statistically more specific than sigmoidoscopy strategies (93.8 %, UK 90.3 %, SCORE 87.7 %, NORCCAP 77.8 %; p < 0.001). In contrast, fecal immunochemical test sensitivity for advanced right-sided neoplasia (17 %) was not statistically different than UK (21.3 %; p = 0.7) or SCORE (23.4 %; p = 0.5), although it was inferior than NORCCAP strategy (42.5 %; p < 0.001). Adding fecal immunochemical test to sigmoidoscopy increased number of positives (8.5-25.7 %), sensitivity (10-30 %), and significantly reduced advanced right-sided neoplasia specificity (p < 0.001). CONCLUSIONS: Fecal immunochemical test and sigmoidoscopy diagnostic yield for advanced right-sided neoplasia are low. Fecal immunochemical test is more specific than sigmoidoscopy but less sensitive than sigmoidoscopy according to NORCCAP criteria.

Relationship of colonoscopy-detected serrated polyps with synchronous advanced neoplasia in average-risk individuals.

BACKGROUND: Serrated cancers account for 10% to 20% of all colorectal cancers (CRC) and more than 30% of interval cancers. The presence of proximal serrated polyps and large (≥10 mm) serrated polyps (LSP) has been correlated with colorectal neoplasia. OBJECTIVE: To evaluate the prevalence of serrated polyps and their association with synchronous advanced neoplasia in a cohort of average-risk population and to assess the efficacy of one-time colonoscopy and a biennial fecal immunochemical test for reducing CRC-related mortality. This study focused on the sample of 5059 individuals belonging to the colonoscopy arm. DESIGN: Multicenter, randomized, controlled trial. SETTING: The ColonPrev study, a population-based, multicenter, nationwide, randomized, controlled trial. PATIENTS: A total of 5059 asymptomatic men and women aged 50 to 69 years. INTERVENTION: Colonoscopy. MAIN OUTCOME MEASUREMENTS: Prevalence of serrated polyps and their association with synchronous advanced neoplasia. RESULTS: Advanced neoplasia was detected in 520 individuals (10.3%) (CRC was detected in 27 [0.5%] and advanced adenomas in 493 [9.7%]). Serrated polyps were found in 1054 individuals (20.8%). A total of 329 individuals (6.5%) had proximal serrated polyps, and 90 (1.8%) had LSPs. Proximal serrated polyps or LSPs were associated with male sex (odds ratio [OR] 2.08, 95% confidence interval [CI], 1.76-4.45 and OR 1.65, 95% CI, 1.31-2.07, respectively). Also, LSPs were associated with advanced neoplasia (OR 2.49, 95% CI, 1.47-4.198), regardless of their proximal (OR 4.15, 95% CI, 1.69-10.15) or distal (OR 2.61, 95% CI, 1.48-4.58) locations. When we analyzed subtypes of serrated polyps, proximal hyperplasic polyps were related to advanced neoplasia (OR 1.61, 95% CI, 1.13-2.28), although no correlation with the location of the advanced neoplasia was observed. LIMITATIONS: Pathology criteria for the diagnosis of serrated polyps were not centrally reviewed. The morphology of the hyperplasic polyps (protruded or flat) was not recorded. Finally, because of the characteristics of a population-based study carried out in average-risk patients, the proportion of patients with CRC was relatively small. CONCLUSION: LSPs, but not proximal serrated polyps, are associated with the presence of synchronous advanced neoplasia. Further studies are needed to determine the risk of proximal hyperplastic polyps.

Diagnosis of Whipple's disease using molecular biology techniques.

The diagnosis of Whipple's disease (WD) is based on the existence of clinical signs and symptoms compatible with the disease and in the presence of PAS-positive diastase-resistant granules in the macrophages of the small intestine. If there is suspicion of the disease but no histological findings or only isolated extraintestinal manifestations, species-specific PCR using different sequences of the T. whippleii genome from different tissue types and biological fluids is recommended.This study reports two cases: the first patient had diarrhea and the disease was suspected after an endoscopic examination of the ileum, while the second patient had multi-systemic manifestations,particularly abdominal, thoracic, and peripheral lymphadenopathies. In both cases, the diagnosis was confirmed using molecular biology techniques to samples from the small intestine or from a retroperineal lymph node, respectively.

Malignant colorectal polyps.

Nowadays, the number of cases in which malignant colorectal polyps are removed is increasing due to colorectal cancer screening programmes. Cancerous polyps are classified into non-invasive high grade neoplasia (NHGN), when the cancer has not reached the muscularis mucosa, and malignant polyps, classed as T1, when they have invaded the submucosa. NHGN is considered cured with polypectomy, while the prognosis for malignant polyps depends on various morphological and histological factors. The prognostic factors include, sessile or pedunculated morphology of the polyp, whether partial or en bloc resection is carried out, the degree of differentiation of the carcinoma, vascular or lymphatic involvement, and whether the polypectomy resection margin is tumor free. A malignant polyp at T1 is considered cured with polypectomy if it is a pedunculated polyp (Ip of the Paris classification), it has been completely resected, it is not poorly differentiated, the resection edge is not affected by the tumor and there is no vascular or lymphatic involvement. The sessile malignant polyp (Is of the Paris classification) at T1 is considered not cured with polypectomy. Only in some cases (e.g. older people with high surgical risk) local excision (polypectomy or endoscopic submucosal dissection or conventional endoscopic mucosal resection) is considered the definitive treatment.

Colorectal cancer prognosis twenty years later.

AIM: To evaluate changes in colorectal cancer (CRC) survival over the last 20 years. METHODS: We compared two groups of consecutive CRC patients that were prospectively recruited: Group I included 1990 patients diagnosed between 1980 and 1994. Group II included 871 patients diagnosed in 2001. RESULTS: The average follow up time was 21 mo (1-229) for Group I and 50 mo (1-73.4) for Group II. Overall median survival was significantly longer in Group II than in Group I (73 mo vs 25 mo, P < 0.001) and the difference was significant for all tumor stages. Post surgical mortality was 8% for Group Iand 2% for Group II (P < 0.001). Only 17% of GroupI patients received chemotherapy compared with 50% of Group II patients (P < 0.001). CONCLUSION: Survival in colorectal cancer patients has doubled over the past 20 years. This increase seems to be partly due to the generalization in the administration of chemotherapy and to the decrease of post surgical mortality.

[Clinicopathological characteristics and survival outcome of esophageal cancer. Results from a series of 200 patients]. / Características clinicopatológicas y supervivencia de los pacientes con cáncer de esófago. Resultados de 200 casos consecutivos.

BACKGROUND AND OBJECTIVE: The esophageal cancer (EC) is a slightly frequent but serious disease. Our aim is to describe the characteristics of the patients with EC in our Hospital. PATIENTS AND METHOD: We included 200 patients consecutively diagnosed and/or treated for CE between between January, 2003 and December, 2007. The location of the tumor was analyzed, the histological type, the proofs realized for to establish the classification, the treatments, the survival and the morbi-mortality of the surgery. RESULTS: The endoscopic ultrasonography (EUS) modified the therapeutic strategy in 12% of the patients. The survival to the year, 3 years and 5 years was 48%, 25% and 21%, respectively. 74 (32%) patients were operated, 48 (65%) of them was treated with neoadjuvant chemoradiotherapy. The postsurgical mortality was 8% (6 patients) and the morbidity was 57% (114 patients). In multivariate analysis, after adjustment for traditional risk factors, were the location in the average third ( [HR, hazard ratio]=2.3; confidence interval [IC] of 95%, 1.3-4.1) and not accomplishment of surgery after the chemotherapy and radiotherapy (HR=1.9; IC to 95%, 1.15-3). CONCLUSIONS: The diagnosis is realized very later. The EUS has contributed a better therapeutic strategy to our patients. The mortality continues being high.