Kikuchi-Fujimoto disease (KFD) has been widely reported from Japan and sporadically from many parts of the world including Saudi Arabia, since its original description in 1972 but the disease remains poorly known by clinicians. In this paper we report two Saudi patients seen in Tabuk. Saudi Arabia. One was a 36-year-old Saudi man and the other a 16-yearold Saudi girl. Both presented with cervical lymphadenopathy and pyrexia. Histological examination of biospy material from both showed classical features of KFD. Other laboratory findings were unremarkable except for leucopenia. Following excision biopsy both patients recovered without sequelae. KFD is a self-limiting process of uncertain aetiology that predominantly affects young women aged 20–-30 years. We review the pathology, clinical featuers and possible aetiology of this interesting disease, which may well be underdiagnosed. Increased awareness of KFD will minimize the risk of confusing this entity with malignant lymphoma or other serious conditions.

Recovery from acute hypoglycaemia induced by the injection of insulin has been examined in six human subjects under control conditions, under non-selective beta blockade (propranolol) and under selective beta 1 blockade (metoprolol). The normal blood glucose recovery was biphasic with an initial rapid and a slower subsequent phase of recovery. The early recovery mechanism was unaffected by either form of beta blockade, but with propranolol the late phase of recovery was significantly prolonged. Rises in blood lactate and plasma free fatty acids following hypoglycaemia were markedly reduced by propranolol but to a much lesser degree with metoprolol. The counterregulatory hormonal responses of glucagon, cortisol and growth hormone were augmented appropriately for the prolonged hypoglycaemia associated with propranolol. Non-selective beta adrenergic blockade with propranolol is associated with an impairment of the late phase of blood glucose recovery from hypoglycaemia. The possible mechanisms of this impairment are discussed.

The acute hypoglycaemic reaction is accompanied by a rise in systolic and a slight fall in diastolic blood pressure and a tachycardia. In contrast, during beta-blockade with propranolol there is a rise of both systolic and diastolic blood pressures and bradycardia. Restoration of blood glucose to normal is delayed. With metoprolol there is a lesser increase in diastolic blood pressure and a slight tachycardia. Restoration of the blood glucose to normal is little delayed. When patients liable to hypoglycaemia require a beta-blocking agent, it is suggested that a selective blocker such as metoprolol should be used.

Massively parallel short read transcriptome sequencing has greatly expanded our knowledge of fusion genes which are drivers of tumor initiation and progression. In cancer, many fusions are also important diagnostic markers and targets for therapy. Long read transcriptome sequencing allows the full length of fusion transcripts to be discovered, however, this data has a high rate of errors and fusion finding algorithms designed for short reads do not work. While numerous fusion finding algorithms now exist for short read RNA sequencing data, methods to detect fusions using third generation or long read sequencing data are lacking. Here we present JAFFAL a method to identify fusions from long-read transcriptome sequencing. We validated JAFFAL using simulation, cell line and patient data from Nanopore and PacBio. We show that fusions can be accurately detected in long read data with JAFFAL, providing better accuracy than other long read fusion finders and within the range of a state-of-the-art method applied to short read data. By comparing Nanopore transcriptome sequencing protocols we find that numerous chimeric molecules are generated during cDNA library preparation that are absent when RNA is sequenced directly. Finally, we demonstrate that JAFFAL enables fusions to be detected at the level of individual cells, when applied to long read single cell sequencing. JAFFAL is open source and available as part of the JAFFA package at https://github.com/Oshlack/JAFFA/wiki.

No abstract