Instruções futuras para cirurgia transroal endoscópica de tireoide.

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Rare among rare: phenotypes of uncommon CMT genotypes

(1) Background: Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited chronic motor and sensory polyneuropathy. Over 100 CMT causative genes have been identified. Previous reports found PMP22, GJB1, MPZ, and MFN2 as the most frequently involved genes. Other genes, such as BSCL2, MORC2, HINT1, LITAF, GARS, and autosomal dominant GDAP1 are responsible for only a minority of CMT cases. (2) Methods: we present here our records of CMT patients harboring a mutation in one of these rare genes (BSCL2, MORC2, HINT1, LITAF, GARS, autosomal dominant GDAP1). We studied 17 patients from 8 unrelated families. All subjects underwent neurologic evaluation and genetic testing by next-generation sequencing on an Ion Torrent PGM (Thermo Fischer) with a 44-gene custom panel. (3) Results: the following variants were found: BSCL2 c.263A > G p.Asn88Ser (eight subjects), MORC2 c.1503A > T p.Gln501His (one subject), HINT1 c.110G > C p.Arg37Pro (one subject), LITAF c.404C > G p.Pro135Arg (two subjects), GARS c.1660G > A p.Asp554Asn (three subjects), GDAP1 c.374G > A p.Arg125Gln (two subjects). (4) Expanding the spectrum of CMT phenotypes is of high relevance, especially for less common variants that have a higher risk of remaining undiagnosed. The necessity of reaching a genetic definition for most patients is great, potentially making them eligible for future experimentations

How future surgery will benefit from SARS-COV-2-related measures: a SPIGC survey conveying the perspective of Italian surgeons

COVID-19 negatively affected surgical activity, but the potential benefits resulting from adopted measures remain unclear. The aim of this study was to evaluate the change in surgical activity and potential benefit from COVID-19 measures in perspective of Italian surgeons on behalf of SPIGC. A nationwide online survey on surgical practice before, during, and after COVID-19 pandemic was conducted in March-April 2022 (NCT:05323851). Effects of COVID-19 hospital-related measures on surgical patients' management and personal professional development across surgical specialties were explored. Data on demographics, pre-operative/peri-operative/post-operative management, and professional development were collected. Outcomes were matched with the corresponding volume. Four hundred and seventy-three respondents were included in final analysis across 14 surgical specialties. Since SARS-CoV-2 pandemic, application of telematic consultations (4.1% vs. 21.6%; p < 0.0001) and diagnostic evaluations (16.4% vs. 42.2%; p < 0.0001) increased. Elective surgical activities significantly reduced and surgeons opted more frequently for conservative management with a possible indication for elective (26.3% vs. 35.7%; p < 0.0001) or urgent (20.4% vs. 38.5%; p < 0.0001) surgery. All new COVID-related measures are perceived to be maintained in the future. Surgeons' personal education online increased from 12.6% (pre-COVID) to 86.6% (post-COVID; p < 0.0001). Online educational activities are considered a beneficial effect from COVID pandemic (56.4%). COVID-19 had a great impact on surgical specialties, with significant reduction of operation volume. However, some forced changes turned out to be benefits. Isolation measures pushed the use of telemedicine and telemetric devices for outpatient practice and favored communication for educational purposes and surgeon-patient/family communication. From the Italian surgeons' perspective, COVID-related measures will continue to influence future surgical clinical practice

Colorectal Cancer Stage at Diagnosis Before vs During the COVID-19 Pandemic in Italy

IMPORTANCE Delays in screening programs and the reluctance of patients to seek medical attention because of the outbreak of SARS-CoV-2 could be associated with the risk of more advanced colorectal cancers at diagnosis. OBJECTIVE To evaluate whether the SARS-CoV-2 pandemic was associated with more advanced oncologic stage and change in clinical presentation for patients with colorectal cancer. DESIGN, SETTING, AND PARTICIPANTS This retrospective, multicenter cohort study included all 17 938 adult patients who underwent surgery for colorectal cancer from March 1, 2020, to December 31, 2021 (pandemic period), and from January 1, 2018, to February 29, 2020 (prepandemic period), in 81 participating centers in Italy, including tertiary centers and community hospitals. Follow-up was 30 days from surgery. EXPOSURES Any type of surgical procedure for colorectal cancer, including explorative surgery, palliative procedures, and atypical or segmental resections. MAIN OUTCOMES AND MEASURES The primary outcome was advanced stage of colorectal cancer at diagnosis. Secondary outcomes were distant metastasis, T4 stage, aggressive biology (defined as cancer with at least 1 of the following characteristics: signet ring cells, mucinous tumor, budding, lymphovascular invasion, perineural invasion, and lymphangitis), stenotic lesion, emergency surgery, and palliative surgery. The independent association between the pandemic period and the outcomes was assessed using multivariate random-effects logistic regression, with hospital as the cluster variable. RESULTS A total of 17 938 patients (10 007 men [55.8%]; mean [SD] age, 70.6 [12.2] years) underwent surgery for colorectal cancer: 7796 (43.5%) during the pandemic period and 10 142 (56.5%) during the prepandemic period. Logistic regression indicated that the pandemic period was significantly associated with an increased rate of advanced-stage colorectal cancer (odds ratio [OR], 1.07; 95%CI, 1.01-1.13; P = .03), aggressive biology (OR, 1.32; 95%CI, 1.15-1.53; P < .001), and stenotic lesions (OR, 1.15; 95%CI, 1.01-1.31; P = .03). CONCLUSIONS AND RELEVANCE This cohort study suggests a significant association between the SARS-CoV-2 pandemic and the risk of a more advanced oncologic stage at diagnosis among patients undergoing surgery for colorectal cancer and might indicate a potential reduction of survival for these patients

Management of Cholelithiasis in Cirrhotic Patients

Gallstone disease (GD) is a common disease worldwide and has a higher incidence in cirrhotic patients than in the general population. The main indications for cholecystectomy surgery in cirrhotic patients remain symptomatic cholelithiasis and its complications. Over the past two decades, numerous published reports have attested to the feasibility and safety of laparoscopic cholecystectomy in cirrhotic patients. Surgery in patients with liver cirrhosis represents an additional source of stress for an already impaired liver function and perioperative complications are remarkably high compared to non-cirrhotic patients, despite significant advances in surgical management. Therefore, preoperative risk stratification and adequate patient selection are mandatory to minimize postoperative complications. We have conducted a systematic review of the literature over the last 22 years for specific information on indications for surgery in cirrhotic patients and individual percentages of Child–Pugh grades undergoing treatment. There are very few reported cases of cholecystectomy and minimally invasive treatment, such as percutaneous transhepatic cholecystostomy (PTC), in patients with Child–Pugh grade C cirrhosis. With this work, we would like to pay attention to the treatment of cholelithiasis in cirrhotic patients who are still able to undergo cholecystectomy, thus also encouraging this type of intervention in cases of asymptomatic cholelithiasis in patients with Child–Pugh grades A and B

Revisiting Application-Dependent Test for FPGA Devices

FPGA testing poses a number of challenges related to both the complexity of the device under test and the opportunities introduced by its support to hardware reconfiguration. Application-dependent testing (ADT) provides an effective answer to these challenges. The study presented in this paper identifies some limitations of state-of-the-art ADT approaches, which prevent a complete coverage for bridging faults and the practical applicability of the algorithms for test configuration generation. The work also introduces a set of new techniques that enabled us to overcome these limitations and effectively extend previous methodologies for ADT

Management of Cholelithiasis in Cirrhotic Patients

Gallstone disease (GD) is a common disease worldwide and has a higher incidence in cirrhotic patients than in the general population. The main indications for cholecystectomy surgery in cirrhotic patients remain symptomatic cholelithiasis and its complications. Over the past two decades, numerous published reports have attested to the feasibility and safety of laparoscopic cholecystectomy in cirrhotic patients. Surgery in patients with liver cirrhosis represents an additional source of stress for an already impaired liver function and perioperative complications are remarkably high compared to non-cirrhotic patients, despite significant advances in surgical management. Therefore, preoperative risk stratification and adequate patient selection are mandatory to minimize postoperative complications. We have conducted a systematic review of the literature over the last 22 years for specific information on indications for surgery in cirrhotic patients and individual percentages of Child–Pugh grades undergoing treatment. There are very few reported cases of cholecystectomy and minimally invasive treatment, such as percutaneous transhepatic cholecystostomy (PTC), in patients with Child–Pugh grade C cirrhosis. With this work, we would like to pay attention to the treatment of cholelithiasis in cirrhotic patients who are still able to undergo cholecystectomy, thus also encouraging this type of intervention in cases of asymptomatic cholelithiasis in patients with Child–Pugh grades A and B

Intestinal Perforation in a patient with peritoneal carcinomatosis from colon cancer treated with Regorafenib. Description of a case and review of the literature

Regorafenib is a multikinase inhibitor approved for treatment of patients with metastatic Colo-Rectal Cancer (mCRC) and Gastro-Intestinal Stromal Tumor (GIST) progression after the administration of other tyrosine-kinase inhibitors such as imatinib and sunitinib.Only a handful of severe side effects such as intestinal perforations and fistulas have been described in the literature in patients undergoing multikinase inhibitor treatment. We report a case of a patient with peritoneal mCRC who experienced an intestinal perforation during the administration of Regorafenib and review the literature. A 48-year-old man with previously resected sigmoid colon cancer and peritoneal metastatic disease under Regorafenib treatment presented to our Emergency Department with severe abdominal pain and asthenia. Abdominal X-ray and contrast-enhanced computed tomography examination revealed an intestinal perforation. The patient underwent emergency surgery which demonstrated acute diffuse peritonitis, necrosis, and perforation of a distal ileal loop affected by peritoneal metastatic disease. The necrosis of peritoneal implants on bowel walls could be regarded as a potential factor leading to intestinal perforation in metastatic colorectal cancer patients undergoing Regorafenib treatment complaining of severe abdominal pain and asthenia.Surgeons, radiologists and oncologists should always keep in mind this rare adverse event during Regorafenib administration. Appropriate diagnostic tests and treatments should be carried out

Giant retroperitoneal liposarcoma: Case report and review of the literature

Aim: Retroperitoneal soft-tissue sarcomas are relatively uncommon diseases, the most frequent histotype, ranging from 20% to 45% of all cases, is represented by liposarcoma, which is a hard-to treat condition for its local aggressiveness and clinical aspecificity. Presentation of case: We report a case of a 64-years-old woman who underwent surgical resection for a giant pleomorphic retroperitoneal liposarcoma. Discussion: Currently chemotherapy for retroperitoneal soft-tissue sarcomas is no effective, and radiotherapy has limited efficacy due to the toxicity affecting adjacent intra-abdominal structures, showed validity only in case of high-grade malignancy by reducing local recurrence, but with no advantage in overall survival. Nowadays only, the complete surgical resection remains the most important predictor of local recurrence and overall survival. Conclusion: The removal of a retroperitoneal sarcoma of remarkable size is a challenge for the surgeon owing to the anatomical site, to the absence of an anatomically evident vascular-lymphatic peduncle and to the adhesions contracted with the contiguous organs and with the great vessels. Therefore, we believe that, particularly for large-size diseases associated to high-grade malignancy, a complete surgical resection with removal of the contiguous intra and retroperitoneal organs when infiltrated represents the only therapeutic option to obtain a negative margin and therefore an oncological radicality