Flynnjackson5666
Reversible infantile respiratory chain deficiency is a severe neonatal mitochondrial myopathy that resolves spontaneously. It is caused by the homoplasmic m.14674T>C mtDNA mutation and additional nuclear variants in genes interacting with mt-tRNAGlu have been detected in some patients. We present detailed clinical, imaging, and muscle biopsy findings in a boy and a girl with neonatal hypotonia, feeding difficulties, lactic acidosis, and ragged red fibers. Both patients show fat replacement on muscle imaging, which was mild in the boy, but severe in the girl, affecting mostly the posterior leg muscles. In addition to the homoplasmic m.14674T>C, both patients carried heterozygous variants in QRSL1 (c. 686T>G; p.Val299Gly) and EARS2 (c.358C>T; p.Arg120Trp), respectively. It is very important to recognize the clinical and morphological signs of reversible infantile respiratory chain deficiency as patients should receive intensive supportive care in the first 6 months of life. Understanding the mechanism of the spontaneous recovery may lead to novel therapeutic perspectives in other mitochondrial diseases.Mutations in the TNNT1 gene cause an infantile, lethal form of myopathy named "Amish" Nemaline Myopathy. Adult patients are very rarely described. We report a 49-year-old patient who presented a slowly progressive phenotype characterized by myalgia, exercise intolerance and dyspnea since infancy. In adult life she lapsed into a coma as a result of acute respiratory failure, with the need of tracheostomy, subsequently removed once her respiratory condition improved. Afterwards, non-invasive ventilation was started. Short stature, contractures, a small size posterior cranial fossa and osteonecrosis were additional clinical findings. Muscle MRI showed minor hypotrophy and degenerative changes of the muscles of the posterior thigh compartment and involvement of the paraspinal, medial gastrocnemius and soleus muscles with sparing of the gracilis muscle. Muscle biopsy revealed multiminicores and nemaline rods. Genetic analysis identified a new pathogenetic biallelic deletion c.786delG p.(Lys263Serfs*36) in exon 13 of TNNT1 gene. This case confirms that recessive mutations in TNNT1 gene can manifest mainly with respiratory failure in adult life.Cardio-oncology is an emerging subspecialty arising from the need for multidisciplinary collaboration to address the increasing prominence of cardiovascular disease (CVD) among cancer patients. This overview outlines the case for establishing cardio-oncology services and defines the ways in which these services benefit cancer patients. The primary objective of cardio-oncology is to manage CVDs in order to allow cancer patients to complete the best cancer treatments safely and with minimal interruption. check details In the decades since the first discovery of heart failure induced by anthracycline chemotherapy, both cardiovascular and oncological science have advanced considerably. Cardio-oncology services aim to bring together expertise from these two fast moving fields in order to provide optimal evidence-based care for cancer patients with CVDs. Here we discuss the basis of cardio-oncology services by presenting their rationale and key components, as well as their essential roles in education, training and research. At achieving these objectives.External beam radiotherapy (EBRT), as part of a trimodality approach, is an attractive bladder-preserving alternative to radical cystectomy. Several EBRT regimens with different treatment volumes have been described with similar tumour control and, so far, clear recommendations on the optimal radiotherapy regimen and treatment volume are lacking. The current review summarises EBRT literature on dose prescription, fractionation as well as treatment volume in order to guide clinicians in their daily practice when treating patients with muscle-invasive bladder cancer. Taking into account literature on repopulation, continuous-course radiotherapy can be used safely in daily practice where a split-course should only be reserved for those patients who are fit enough to undergo a radical cystectomy in case of a poor early response. A recent meta-analysis has proven that hypofractionated radiotherapy is superior to conventional radiotherapy with regards to invasive locoregional control with similar toxicity profiles. In the absence of node-positive disease, the target volume can be restricted to the bladder. In order to compensate for organ motion, very large margins need to be applied in the absence of image-guided radiotherapy (IGRT). Therefore, the use of IGRT or an adaptive approach is recommended. Based on the available literature, one can conclude that moderate hypofractionated radiotherapy to a dose of 55 Gy in 20 fractions to the bladder only, delivered with IGRT, can be considered standard of care for patients with node-negative invasive bladder cancer.
Surgical management of small pancreatic neuroendocrine tumors (PNETs) is variable. Patients may undergo formal oncologic resection, encompassing regional lymphadenectomy, or enucleation. This study's aim was to understand if enucleation is adequate treatment for PNETs <2cm METHODS The US National Cancer Database (NCDB) from 2004 to 2016 was used to identify patients who underwent oncologic resection or enucleation for PNETs <2cm. Fisher's exact test, log-rank, and logistic regression were used.
Of 4083 patients, 75.6% underwent oncologic resection with a median (range) number of 8 (0-99) lymph nodes examined, and 24.1% underwent enucleation. Five-year overall survival rate was 89.7% in node-negative patients versus 82.1% in node-positive patients (p<0.001).No survival difference existed between patients who underwent enucleation versus oncologic resection (5-yr OS of 88.5% vs 88.2%, p = 0.064). According to AJCC classification, 3776patients were clinically-staged with evidence of node-negative disease. Of these, 75.1% underwent oncologic resection, of which 9.9% had node-positive disease after resection. Tumor grade and size independently predicted nodal upstagingafter oncologic resection.
One-tenth of patients with clinically node-negative disease were node-positive after surgery. Although this was not reflected in overall survival, patients who receive enucleation with higher grade and larger size may benefit from enhanced surveillance for locoregional recurrence.
One-tenth of patients with clinically node-negative disease were node-positive after surgery. Although this was not reflected in overall survival, patients who receive enucleation with higher grade and larger size may benefit from enhanced surveillance for locoregional recurrence.
Intraductal papillary neoplasm of the bile-duct (IPNB) has recently been further subclassified into "so-called IPNBs" (Type-1) and "narrow-sense papillary cholangiocarcinomas" (Type-2), but their differential diagnosis is challenging. This study aimed to reevaluate Type-1 and Type-2 IPNBs.
Consecutive patients who underwent papillary bile-duct tumor resection were included. Using six pathological features (location, mucin secretion, histological architecture, histological type, presence of a low/intermediate-dysplasia component, and proportion of the invasive component), all papillary tumors were scored. Tumors scoring 5-6 were classified as Type-1, 0-1 as Type-2, and 2-4 as Type-Unclassifiable.
The 181 papillary bile-duct tumor patients were divided into three groups, consisting of 12 Type-1, 46 Type-2, and 123 Type-Unclassifiable-gray-zone lesions between Type-1 and Type-2 that constituted the largest proportion of papillary tumors. Type-1 tumors were pathologically the least advanced, while the other types showed gradual advancement. The 5-year survival rate was better for patients with Type-1 tumors than for those with Type-Unclassifiable or Type-2 tumors.
The scoring system worked well to delineate a continuous spectrum of pathologic features ranging from Type-1, through Type-Unclassifiable, to Type-2, the latter two being challenging to differentially diagnose. Type-1 is regarded as an early neoplasm of Type-Unclassifiable and Type-2.
The scoring system worked well to delineate a continuous spectrum of pathologic features ranging from Type-1, through Type-Unclassifiable, to Type-2, the latter two being challenging to differentially diagnose. Type-1 is regarded as an early neoplasm of Type-Unclassifiable and Type-2.
Emergency completion pancreatectomy (CP) after pancreatoduodenectomy (PD) is a technically demanding procedure. We report our experiences with a four-step standardized technique used at our center since 2012.
In the first step, the gastrojejunostomy is divided with a stapler to quickly access the pancreatic anastomosis and permit adequate exposure, especially in cases of active bleeding. Second, the bowel loops connected to the pancreatic anastomosis is divided in cases of pancreaticojejunostomy. Third, the pancreatectomy is completed with or without the splenic vessels and spleen conservation according to the local conditions. Finally, the fourth step reconstructs in a Roux-en-Y fashion and ensures drainage.
From January 2012 to December 2019, 450 patients underwent PD at our center. Reintervention for grade C postoperative pancreatic fistula was decided for 30 patients, and CP was performed in 21 patients. The mean intraoperative blood loss and operative duration were relatively low (600ml and 240min, respectively). During the perioperative period, three patients died from multiple organ failure, and two patients died intraoperatively from a cataclysmic hemorrhage originating from the superior mesenteric artery.
Our standardized procedure appears to be relatively safe, reproducible, and could be particularly useful for young surgeons.
Our standardized procedure appears to be relatively safe, reproducible, and could be particularly useful for young surgeons.
Bile leak (BL) after hepato-pancreato-biliary (HPB) surgery is associated with significant morbidity and mortality. Aim of this study was to evaluate effectiveness and safety of percutaneous transhepatic approach (PTA) to drainage BL after HPB surgery.
Between 2006 and 2018, consecutive patients who were referred to interventional radiology units of three tertiary referral hospitals were retrospectively identified. Technical success and clinical success were analyzed and evaluated according to surgery type, BL-site and grade, catheter size and biochemical variables. Complications of PTA were reported.
One-hundred-eighty-five patients underwent PTA for BL. Technical success was 100%. Clinical success was 78% with a median (range) resolution time of 21 (5-221) days. Increased clinical success was associated with patients who underwent hepaticresection (86%,p=0,168) or cholecystectomy (86%,p=0,112) while low success rate was associated to liver-transplantation (56%,p<0,001). BL-site,grade, catheter size and AST/ALT levels were not associated with clinical success. ALT/AST high levels were correlated to short time resolution (17 vs 25 days, p=0,037 and 16 vs 25 day, p=0,011, respectively) Complications of PTA were documented in 21 (11%) patients.
This study based on a large cohort of patients demonstrated that PTA is a valid and safe approach in BL treatment after HPB surgery.
This study based on a large cohort of patients demonstrated that PTA is a valid and safe approach in BL treatment after HPB surgery.
