Mikkelsengentry0374

Background  Laparoscopic cholecystectomy (LC) is increasingly being used as a first-line treatment for acute cholecystitis. Bile duct injury (BDI) remains the most feared complication of the minimally invasive approach specially in cases with an inflamed calots triangle. While use of indocyanine dye (ICG) to delineate biliary anatomy serves to reduce BDI, the high cost of the technology prohibits its use in the developing world. We propose a novel use of common bile duct (CBD) stenting preoperatively in cases of cholecystitis secondary to choledocholithiasis as a means of identification and safeguarding the CBD. Methods  A retrospective review was conducted on 22 patients of Grade 2 or Grade 3 cholecystitis who underwent an early LC at our institution. All patients were stented preoperatively and the stent was used for a much-needed tactile feedback during dissection. A c-arm with intraoperative fluoroscopy was used to identify the CBD prior to clipping of the cystic duct. Results  The gall bladder was gangrenous in all the cases while two cases had evidence of end organ damage. This innovative use of CBD stenting allowed us to correctly delineate biliary anatomy in all of the cases and we report no instances of BDI despite a severely inflamed local environment. Conclusion  This technique can become a standard of care in all teaching institutions in developing countries further enhancing the safety of cholecystectomy in gangrenous cholecystitis with a distorted biliary anatomy.Posterior cruciate ligament (PCL) injuries are not as common as other knee ligament injuries, but may present a challenging scenario for even skilled knee surgeons. Complete PCL tears are typically encountered in the setting of multiligament knee injuries and require surgical treatment. Isolated complete PCL injuries are uncommon and the best treatment is debated, and likely depends on the degree of symptoms and objective instability. However, many PCL injuries will be partial tears (grade I or II). The purpose of this chapter is to describe our treatment of choice for partial PCL injuries through a conservative approach. Level of evidence  Level IV.

To report the identification of 2 new homozygous recessive mutations in the synaptotagmin 2 (

) gene as the genetic cause of severe and early presynaptic forms of congenital myasthenic syndromes (CMSs).

Next-generation sequencing identified new homozygous intronic and frameshift mutations in the

gene as a likely cause of presynaptic CMS. We describe the clinical and electromyographic patient phenotypes, perform ex vivo splicing analyses to characterize the effect of the intronic mutation on exon splicing, and analyze the functional impact of this variation at the neuromuscular junction (NMJ).

The 2 infants presented a similar clinical phenotype evoking first a congenital myopathy characterized by muscle weakness and hypotonia. Next-generation sequencing allowed to the identification of 1 homozygous intronic mutation c.465+1G>A in patient 1 and another homozygous frameshift mutation c.328_331dup in patient 2, located respectively in the 5' splice donor site of

intron 4 and in exon 3. Functional studies of the intronic mutation validated the abolition of the splice donor site of exon 4 leading to its skipping. In-frame skipping of exon 4 that encodes part of the C2A calcium-binding domain of SYT2 is associated with a loss-of-function effect resulting in a decrease of neurotransmitter release and severe pre- and postsynaptic NMJ defects.

This study identifies new homozygous recessive

mutations as the underlying cause of severe and early presynaptic form of CMS expanding the genetic spectrum of recessive

-related CMS associated with defects in neurotransmitter release.

This study identifies new homozygous recessive SYT2 mutations as the underlying cause of severe and early presynaptic form of CMS expanding the genetic spectrum of recessive SYT2-related CMS associated with defects in neurotransmitter release.

Early identification of de novo

variants in patients with epilepsy raises prognostic issues toward optimal management. We analyzed the clinical and genetic information from a cohort of patients with de novo

pathogenic variants to dissect genotype-phenotype correlations.

Patients with de novo

pathogenic variants were identified from Italy, Denmark, and Belgium. Atomic resolution Kv7.2 structures were also generated using homology modeling to map the variants.

We included 34 patients with a mean age of 4.7 years. Median seizure onset was 2 days, mainly with focal seizures with autonomic signs. Twenty-two patients (65%) were seizure free at the mean age of 1.2 years. More than half of the patients (17/32) displayed severe/profound intellectual disability; however, 4 (13%) of them had a normal cognitive outcome.A total of 28 de novo pathogenic variants were identified, most missense (25/28), and clustered in conserved regions of the protein; 6 variants recurred, and 7 were novel. We did not identify a relationship between variant position and seizure offset or cognitive outcome in patients harboring missense variants. Besides, recurrent variants were associated with overlapping epilepsy features but also variable evolution regarding the intellectual outcome.

We highlight the complexity of variant interpretation to assess the impact of a class of de novo

mutations. Genetic modifiers could be implicated, but the study paradigms to successfully address the impact of each single mutation need to be developed.

We highlight the complexity of variant interpretation to assess the impact of a class of de novo KCNQ2 mutations. Genetic modifiers could be implicated, but the study paradigms to successfully address the impact of each single mutation need to be developed.As a result of the corona pandemic, the amount of digital health information has increased substantially. As the quantity and diversity of information increased, so does the need for evidence based and reliable health information. In the special course of study "Health Communication", students of the Bachelors program "Health Promotion" at Fulda University of Applied Sciences are enabled to develop and disseminate evidence-based health information and preventive messages that meet the demands of the target group. Avotaciclib order Due to the corona-related university closure, the module "Digital Health Communication" was realized in a digital format during the summer semester 2020. In order to activate students and promote teamwork, the study course used the approach of problem-based and research-based learning. Moreover, the course concept is based on a variety of methods, including MS Teams with screencasts, videos, synchronous teaching sessions, gamified audience response systems, the online Inverted Classroom Model and a final oral examination.