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Patients with inflammatory bowel diseases (IBD) have experienced changes to the routine management because of the SARS-CoV-2 pandemic. The aim of this study was to examine patients with IBD’s adherence to the restrictions imposed by society and the hospital, worries and concerns regarding medical treatment and clinical follow-up under the pandemic.

IBD patients (≥18 years) at the outpatient clinic at Oslo University Hospital were included and answered a self-report questionnaire including concerns regarding their disease, medical therapy and follow-up during SARS-CoV-2 pandemic.

In total, 522 IBD patients were included, 317 Crohn’s disease, 205 ulcerative colitis, 386 patients <50 years. Eighteen percent were in obligatory quarantine, and more often patients <50 years compared to patients ≥50 years. Five patients tested positive to SARS- CoV-2. A higher proportion <50 years reported worries for their medical treatment and risk of COVID -19 disease compared to those ≥50 years. Forty percent avoided family, two-thirds avoided friends, and 4% cancelled their scheduled consultation at the hospital. The hospital changed physical consultation to telephone consultation for 15% of the patients. The preferred follow-up was physical consultation. A higher proportion of the patients <50 years preferred telephone consultation compared to those ≥50 years. Four out of five IBD patients were satisfied with the information about their IBD and COVID-19.

SARS-CoV-2 pandemic affects the daily lives for patients with IBD. It is important to develop evidence-base guidelines in follow-up and treatment, as well as patient information about COVID-19and IBD.

SARS-CoV-2 pandemic affects the daily lives for patients with IBD. It is important to develop evidence-base guidelines in follow-up and treatment, as well as patient information about COVID-19and IBD.Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder, characterized by lower-limb spasticity and weakness. To date, more than 82 loci/genes (SPG1-SPG82) have been identified that contribute to the cause of HSP. Despite the use of next-generation sequencing-based methods, genetic-analysis has failed in the finding of causative genes in more than 50% of HSP patients, indicating a more significant heterogeneity and absence of a given phenotype-genotype correlation. Here, we performed whole-exome sequencing (WES) to identify HSP-causing genes in three unrelated-Iranian probands. Candidate variants were detected and confirmed in the probands and co-segregated in the family members. The phenotypic data gathered and compared with earlier cases with the same sub-types of disease. Three novel homozygous variants, c.978delT; p.Q327Kfs*39, c.A1208G; p.D403G and c.3811delT; p.S1271Lfs*44, in known HSP-causing genes including ENTPD1, CYP7B1, and ZFYVE26 were identified, respectively. Intra and interfamilial clinical variability were observed among affected individuals. Mutations in CYP7B1 and ZFYVE26 are relatively common causes of HSP and associated with SPG5A and SPG15, respectively. However, mutations in ENTPD1 are related to SPG64 which is an ultra-rare form of HSP. The research affirmed more complexities of phenotypic manifestations and allelic heterogeneity in HSP. Due to these complexities, it is not feasible to show a clear phenotype-genotype correlation in HSP cases. Identification of more families with mutations in HSP-causing genes may help the establishment of this correlation, further understanding of the molecular basis of the disease, and would provide an opportunity for genetic-counseling in these families.Facile syntheses of 3-O-carbamoyl, -sulfamoyl, or -pivaloyl derivatives of 13α-oestrone and its 17-deoxy counterpart have been carried out. Microwave-induced, Ni-catalysed Suzuki-Miyaura couplings of the newly synthesised phenol esters with phenylboronic acid afforded 3-deoxy-3-phenyl-13α-oestrone derivatives. The carbamate and pivalate esters proved to be suitable for regioselective arylations. 2-(4-Substituted) phenyl derivatives were synthesised via Pd-catalysed, microwave-assisted C-H activation reactions. An efficient, one-pot, tandem methodology was elaborated for the introduction of the carbamoyl or pivaloyl group followed by regioselective C-2-arylation and subsequent removal of the directing group. The antiproliferative properties of the novel 13α-oestrone derivatives were evaluated in vitro on five human adherent cancer cell lines of gynaecological origin. 3-Sulfamate derivatives displayed substantial cell growth inhibitory potential against certain cell lines. The newly identified antiproliferative compounds having hormonally inactive core might be promising candidates for the design of more active anticancer agents.

To investigate the feasibility of using an extended scope (ES) audiology service to provide care to non-urgent adult patients waiting for an Ear Nose and Throat (ENT) appointment.

Based on suitability criteria developed by the Audiology and ENT departments, an internal review of the ENT wait list identified patients who would be suitable for an ES audiology clinic.

220 non-urgent patients on the ENT wait list with hearing loss and/or tinnitus.

A total of 220 patients were transferred from the ENT wait list to the ES audiology clinic 200 (90.9%) were seen by the ES Audiologist and 20 (9.1%) patients self-discharged or did not attend the appointment. Out of the 200 patients seen, 175 (87.5%) were assessed, managed and discharged without the need for input from an Otologist. The remaining 25 (12.5%) patients needed an Otologist’s input.

This study has demonstrated the feasibility of an ES audiology clinic in a tertiary teaching hospital. Of those seen by ES audiologist, 87.5% were discharged from the ENT wait list without medical intervention. This model may represent an effective alternative pathway for lengthy outpatient waiting list management whilst providing patients with timely access to care.

This study has demonstrated the feasibility of an ES audiology clinic in a tertiary teaching hospital. Of those seen by ES audiologist, 87.5% were discharged from the ENT wait list without medical intervention. PLX51107 inhibitor This model may represent an effective alternative pathway for lengthy outpatient waiting list management whilst providing patients with timely access to care.