Fusobacterium pneumonia and death following uvulo-palato-pharyngoplasty

A case with a fatal outcome caused by infection with Fusobacterium species was seen in a patient recently operated on for heavy snoring with uvulo-palato-pharyngoplasty (UPPP). The mechanism of infection is discussed. It is concluded that a febrile episode seen in patients less than 2 weeks postoperatively should be considered a serious symptom and be treated intensively after thorough examination. © 1994 John Wiley & Sons, Inc.     

Immunohistochemical differentiation between lymphangiographically verified lymphatic vessels and blood vessels

Summary In order to investigate the antigen profile in human lymphatic vessels when compared with blood vessels, postmortem retrograde lymphangiography was done via the thoracic duct on six patients. Formalin fixed, paraffin embedded tissue was stained immunohistochemically for Factor VIII-Related antigen (F VIII R:Ag), with Ulex Europaeus 1 lectin (UEA-1) and for laminin. The results show that the endothelium of blood vessels and lymphatics at all levels of the lymphatic system react positively following staining for Factor VIII-R:Ag and with UEA-1 lectin. The staining for F VIII R:Ag was generally weaker in the endothelial cells lining lymphatic vessels. Staining for the basement membrane component laminin can be used to distinguish lymphatic capillaries and smaller lymphatic collecting vessels from blood vessels.     

Clinical outcome after surgery on schwannomas in the extremities

BACKGROUND Schwannoma is a benign, encapsulated and slowly growing tumor originating from Schwann cells and is rarely seen in the peripheral nerve system. Typical symptoms are soreness, radiating pain and sensory loss combined with a soft tissue mass.AIM To evaluate pre-and postoperative symptoms in patients operated for schwannomas in the extremities and investigate the rate of malignant transformation.METHODS In this single center retrospective study design, all patients who had surgery for a benign schwannoma in the extremities from May 1997 to January 2018 were included. The location of the tumor in the extremities was divided into five groups; forearm, arm, shoulder, thigh and leg including foot. The locations of the tumor in the nerves were also categorized as either; proximal, distal, minor or major nerve. During the pre-and postoperative clinical evaluation, symptoms were classified as paresthesia, local pain, radiating pain, swelling, impairment of mobility/strength and asymptomatic tumors that were found incidentally(with magnetic resonance imaging). The patients were evaluated after surgery using the following categories: Asymptomatic or symptomatic patients(radiating and/or local pain) and those with complications. The follow up period was from the time of surgery until last examination of the particular physician. Multivariate logistic regression analysis was performed to identify independent prognostic factors for postoperative significant symptoms at follow-up.RESULTS We identified 858 cases from the institutional pathology register. We excluded cases with duplicate diagnoses(n = 407), pathology not including schwannomas(n = 157), lesions involving the torso, spine and neck(n = 150) leaving 144 patients for further analysis. In this group 99 patients underwent surgery and there were five complications recorded: 2 infections(treated with antibiotics) and 3 nerve palsies(2 involving the radial nerve and one involving the median nerve) that recovered spontaneously. At the end of follow-up, 1.4 mo(range 0.5-76) postoperatively, we recorded a post-operative decrease in clinical symptoms: Local pain 76%(6/25), radiating pain 97%(2/45), swelling 20%(8/10). Symptoms of paresthesia increased by 2.8%(37/36) and there was no change in motor weakness before and after surgery 1%(1/1). Multivariate analysis showed that tumors located within minor nerves had a significantly higher prevalence of postoperative symptoms compared with tumors in major nerves(odds ratio: 2.63; confidence intervals: 1.22-6.42, P = 0.029). One patient with schwannoma diagnosed by needle biopsy was diagnosed to have malignant transformation diagnosed in the surgically removed tumor. No local recurrences were reported.CONCLUSION Surgery of schwannomas can be conducted with low risk of postoperative complications, acceptable decrease in clinical symptoms and risk of malignant transformation is low.     

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes

The birth prevalence of laterality defects is about 1.1/10,000 comprising different phenotypes ranging from situs inversus totalis to heterotaxy, mostly associated with complex congenital heart defects (CHD) and situs abnormalities such as intestinal malrotation, biliary atresia, asplenia, or polysplenia. A proportion of laterality defects arise in the context of primary ciliary dyskinesia (PCD) accompanied by respiratory symptoms or infertility. In this study, exome sequencing (ES) was performed in 14 case-parent trios/quattros with clinical exclusion of PCD prior to analysis. Moreover, all cases and parents underwent detailed clinical phenotyping including physical examination, echocardiography by a skilled paediatric cardiologist and abdominal ultrasound examinations not to miss mildly affected individuals. Subsequent survey of the exome data comprised filtering for monoallelic de novo, rare biallelic, and X-linked recessive variants. In two families, rare variants of uncertain significance (VUS) in PKD1L1 and ZIC3 were identified. Both genes have been associated with laterality defects. In two of the remaining families, biallelic variants in LMBRD1 and DNAH17, respectively, were prioritized. In another family, an ultra-rare de novo variant in WDR47 was found. Extensive exome survey of 2,109 single exomes of individuals with situs inversus totalis, heterotaxy, or isolated CHD identified two individuals with novel monoallelic variants in WDR47, but no further individuals with biallelic variants in DNAH17 or LMBRD1. Overall, ES of 14 case-parent trios/quattros with cardiovascular laterality defects identified rare VUS in two families in known disease-associated genes PKD1L1 and ZIC3 and suggests DNAH17, LMBRD1, and WDR47 as potential genes involved in laterality defects.Subject terms: Disease genetics, Genetic counselling, Biological sciences     

Heart rate variability analysis indicates preictal parasympathetic overdrive preceding seizure‐induced cardiac dysrhythmias leading to sudden unexpected death in a patient with epilepsy

Evidence for seizure‐induced cardiac dysrhythmia leading to sudden unexpected death in epilepsy (SUDEP) has been elusive. We present a patient with focal cortical dysplasia who has had epilepsy for 19 years and was undergoing presurgical evaluation. The patient did not have any cardiologic antecedents. During long‐term video–electroencephalography (EEG) monitoring, following a cluster of secondarily generalized tonic–clonic seizures (GTCS), the patient had prolonged postictal generalized EEG suppression, asystole, followed by arrhythmia, and the patient died despite cardiopulmonary resuscitation. Analysis of heart rate variability showed a marked increase in the parasympathetic activity during the period preceding the fatal seizures, compared with values measured 1 day and 7 months before, and also higher than the preictal values in a group of 10 patients with GTCS without SUDEP. The duration of the QTc interval was short (335–358 msec). This unfortunate case documented during video‐EEG monitoring indicates that autonomic imbalance and seizure‐induced cardiac dysrhythmias contribute to the pathomechanisms leading to SUDEP in patients at risk (short QT interval). A PowerPoint slide summarizing this article is available for download in the Supporting Information section here .     

Conceptual confusion about intentions and motives of nonfatal suicidal behavior: A discussion of terms employed in the literature of suicidology

Abstract

The confusing and inconsistent employment of the terms intentions and motives in the literature of suicidology is exemplified and discussed. It is concluded that when nonfatal suicidal acts are explained in terms of something the patients wanted to achieve by the act (which mainly is the case), whether it was to die or something else, the appropriate term will be intention(s), not motive(s).     

Direct binding of GABAA receptor β2 and β3 subunits to gephyrin

GABAergic transmission is essential to brain function, and a large repertoire of GABA type A receptor (GABA_AR) subunits is at a neuron's disposition to serve this function. The glycine receptor (GlyR)‐associated protein gephyrin has been shown to be essential for the clustering of a subset of GABA_AR. Despite recent progress in the field of gephyrin‐dependent mechanisms of postsynaptic GABA_AR stabilisation, the role of gephyrin in synaptic GABA_AR localisation has remained a complex matter with many open questions. Here, we analysed comparatively the interaction of purified rat gephyrin and mouse brain gephyrin with the large cytoplasmic loops of GABA_AR α1, α2, β2 and β3 subunits. Binding affinities were determined using surface plasmon resonance spectroscopy, and showed an ~ 20‐fold lower affinity of the β2 loop to gephyrin as compared to the GlyR β loop–gephyrin interaction. We also probed in vivo binding in primary cortical neurons by the well‐established use of chimaeras of GlyR α1 that harbour respective gephyrin‐binding motifs derived from the different GABA_AR subunits. These studies identify a novel gephyrin‐binding motif in GABA_AR β2 and β3 large cytoplasmic loops.     

Gut inflammation and expression of ICC in a fetal lamb model of fetoscopic intervention for gastroschisis

Background

The pathogenesis of intestinal dysmotility in gastroschisis is not completely understood. Peel formation and disorganization of interstitial Cajal cells (ICC) have been proposed in humans. The aim of this study was to evaluate the impact of prenatal coverage of gastroschisis on gut inflammation and expression of ICC in a fetal lamb model.

Methods

Twenty-one German blackhead sheep with an abdominal wall defect that was created fetoscopically on day 77 of 145 days gestation were used in this study. Intrauterine surgery with the aim to cover the defect was performed 3 weeks later; two fetuses were covered completely, 5 partially and 11 remained uncovered. Three fetuses without gastroschisis were used as controls. All fetuses were retrieved by cesarean section at day 135. Samples of the small intestine were stained with hematoxylin and eosin for histologic analysis of peel formation and serosal and muscular thickness. For ICC detection, immunohistochemistry using anti-CD117 (c-Kit) antibody was used.

Results

In all samples with exposure to amniotic fluid, peel formation and significantly decreased ICC were found. Complete coverage reduced peel formation and disorganization of ICC compared to uncovered animals almost to the level of controls.

Conclusions

Peel formation and ICC derangement were significantly reduced by prenatal coverage of gastroschisis. Moreover, this animal model mimics the histopathological bowel changes as seen in human gastroschisis and may, therefore, be used for further research on the pathophysiology and fetal therapy of this malformation.