Njáls Saga Stemmas, Old And New

Despite its fame as the pre-eminent medieval Icelandic saga, Njáls saga lacks a stemma comprehending all the saga’s manuscripts: only the vellum manuscripts have been surveyed in detail. As part of the Variance of Njáls saga (Breytileki Njáls sögu) project, we produced a stemma of all witnesses to chapter 86 (forty-nine out of the total sixty or so surviving manuscripts and fragments), supplemented with targeted samples from chapter 142 (32 manuscripts). This affords the first systematic insight into the post-medieval manuscript transmission of the saga. The present article focuses on two aspects of the post-medieval transmission which turn out to be of particular interest: the huge popularity of the lost medieval manuscript *Gullskinna in the post-medieval scribal tradition, and a revision of the branch of the Njáls saga stemma labelled as *Y by Einar Ólafur (noted for being represented by Oddabók, AM 466 4to)

Hereditary Neuropathy with Pressure Hypersensitivity or Tomaculous Neuropathy

peer reviewedHereditary neuropathy liability to pressure palsies is characterized by recurring accesses of painless paralysis at the level of various nerves likely to be compressed. This affection remains underdiagnosed because of its usually benign course, sometimes without any symptom. The diagnosis is supported by clinical and electrophysiological data associated with, in the majority of patients, a deletion of one of the alleles coding for protein PMP 22 on the level of the locus 17p11.2

Paralysie non traumatique du nerf interosseux postérieur liée à la pratique du VTT

Etude d'un cas de parésie de l'extension des doigts de la main chez une pratiquante du VTT : neuropathie canalaire avec bloc de conduction observé sur le nerf interosseux postérieur au niveau du coude

Liver abscess : case report and literature review

peer reviewedLiver abscess is a rare condition. There are multiple etiologies and mortality linked to the infections or local complications is high. The rapid diagnosis and the implementation of an adequate and effective treatment are essential to allow healing without sequels. We report the case of a monofocal bacterial hepatic abscess in a 61-year-old patient with an iatrogenic origin. A review of the literature is proposed in order to address the incidence, the different microorganisms, the different etiologies and the different possibilities of treatment. It should be noted that mycotic abscess, which is extremely rare outside the immunocompromised patient, will not be discussed in this article

Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165

Three patients belonging to two families presented with a psychomotor-dysmorphism syndrome including postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Other features were muscular hypotrophy, fat excess, partial growth hormone deficiency, and, in two of the three patients, episodes of unexplained fever. Additional investigations showed mild to moderate increases of serum transaminases (particularly of aspartate transaminase (AST)), creatine kinase (CK), and lactate dehydrogenase (LDH), as well as decreased coagulation factors VIII, IX, XI, and protein C. Diagnostic work-up revealed a type 2 serum transferrin isoelectrofocusing (IEF) pattern and a cathodal shift on apolipoprotein C-III IEF pointing to a combined N- and O-glycosylation defect. Known glycosylation disorders with similar N-glycan structures lacking galactose and sialic acid were excluded. Through a combination of homozygosity mapping and expression profiling, a deep intronic homozygous mutation (c.792 + 182G>A) was found in TMEM165 (TPARL) in the three patients. TMEM165 is a gene of unknown function, possibly involved in Golgi proton/calcium transport. Here we present a detailed clinical description of the three patients with this mutation. The TMEM165 deficiency represents a novel type of CDG (TMEM165-CDG). This disorder enlarges the group of CDG caused by deficiencies in proteins that are not specifically involved in glycosylation but that have functions in the organization and homeostasis of the intracellular compartments and the secretory pathway, like COG-CDG and ATP6V0A2-CDG.status: publishe