Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.

Recently, Stenton et al. (2021) described a new, autosomal recessive inheritance pattern of Leber's hereditary optic neuropathy (LHON) caused by missense variants in the DNAJC30 gene. The DNAJC30 c.152A > G, p.(Tyr51Cys) variant was by far the most common variant reported in patients originating from Eastern Europe, therefore, it is believed to be a founder variant in these populations. We report the first two cases of DNAJC30-linked autosomal recessive LHON in a young male and a female originating from Estonia. The patients presented severe loss of central vision and clinical features indistinguishable from mitochondrial LHON. The whole exome sequencing carried out in the male patient and the next-generation sequencing panel in the young female patient identified the same homozygous missense variant in the DNAJC30 gene. Our cases further reinforce the pathogenicity of c.152A > G, p.(Tyr51Cys) DNAJC30 variant causing autosomal recessive LHON. According to the gnomAD database, the allele frequency of this variant in the Estonian population is 0.8%, translating into a prevalence of carriers of 1:60. It is the highest among different gnomAD populations. Applying the Hardy-Weinberg equation, an estimated 92 persons in the Estonian population carry the homozygous variant c.152A > G, p.(Tyr51Cys) in DNAJC30. In patients with LHON, we advise sequencing both the DNAJC30 gene and mitochondrial DNA simultaneously.

What's up with WhatsApp in supplementing surgical education: an objective assessment.

INTRODUCTION: This is the first study aimed at objectively quantifying the benefit of virtual education using WhatsApp-based discussion groups. METHODS: A prospective, non-randomised interventional study was undertaken in the Department of General Surgery, at a tertiary care centre in Kolkata, India, with 200 undergraduate students over a period of 5 days each for 2 weeks, with the first week acting as a control arm. A WhatsApp group was created consisting of 197 eligible undergraduates, faculty members and the authors of this study. Each day, three questions were posted on this group. The second week involved an hour-long WhatsApp-based discussion between the participants and the faculty. Responses were recorded and compared for improvements between the two weeks. Participant feedback was collected and analysed. RESULTS: Statistically significant improvements were observed in the study group compared with the control group in rates of one in three, two in three and three in three correct responses (p=0.01649, 0.01146 and 0.00946, respectively). A total of 68 (51.92%) feedback respondents were satisfied with the programme. Convenience of use was the principal reason behind satisfaction in 79 respondents (60.31%), whereas 62 participants (47.33%) reported lack of hands-on training as a major drawback. CONCLUSIONS: WhatsApp was found to be a satisfactory supplement to traditional medical teaching. It can be implemented to fill lapses in medical education, especially in light of the COVID-19 pandemic, which has caused great disruption to traditional teaching methods. Research is needed to assess the feasibility of incorporating it into the curriculum.

What's up with WhatsApp in supplementing surgical education: an objective assessment.

INTRODUCTION: This is the first study aimed at objectively quantifying the benefit of virtual education using WhatsApp-based discussion groups. METHODS: A prospective, non-randomised interventional study was undertaken in the Department of General Surgery, at a tertiary care centre in Kolkata, India, with 200 undergraduate students over a period of 5 days each for 2 weeks, with the first week acting as a control arm. A WhatsApp group was created consisting of 197 eligible undergraduates, faculty members and the authors of this study. Each day, three questions were posted on this group. The second week involved an hour-long WhatsApp-based discussion between the participants and the faculty. Responses were recorded and compared for improvements between the two weeks. Participant feedback was collected and analysed. RESULTS: Statistically significant improvements were observed in the study group compared with the control group in rates of one in three, two in three and three in three correct responses (p=0.01649, 0.01146 and 0.00946, respectively). A total of 68 (51.92%) feedback respondents were satisfied with the programme. Convenience of use was the principal reason behind satisfaction in 79 respondents (60.31%), whereas 62 participants (47.33%) reported lack of hands-on training as a major drawback. CONCLUSIONS: WhatsApp was found to be a satisfactory supplement to traditional medical teaching. It can be implemented to fill lapses in medical education, especially in light of the COVID-19 pandemic, which has caused great disruption to traditional teaching methods. Research is needed to assess the feasibility of incorporating it into the curriculum.

Splenic trauma in the twenty-first century: changing trends in management.

Over the past three decades, management of blunt splenic trauma has changed radically. Use of improved diagnostic techniques and proper understanding of disease pathology has led to nonoperative management being chosen as the standard of care in patients who are haemodynamically stable. This review was undertaken to assess available literature regarding changing trends of management of blunt splenic trauma, and to identify the existing lacunae in nonoperative management. The PubMed database was searched for studies published between January 1987 and August 2017, using the keywords 'blunt splenic trauma' and 'nonoperative management'. One hundred and fifty-three articles were reviewed, of which 82 free full texts and free abstracts were used in the current review. There is clear evidence in published literature of the greater success of nonoperative over operative management in patients who are haemodynamically stable and the increasing utility of adjunctive therapies like angiography with embolisation. However, the review revealed a lack of universal guidelines for patient selection criteria and diagnostic and grading procedures needed for nonoperative management. Indications for splenic artery embolisation, the current role of splenectomy and spleen-preserving surgeries, together with the place of minimal access surgery in blunt splenic trauma remain grey areas. Moreover, parameters affecting the outcomes of nonoperative management and its failure and management need to be defined. This shows a need for future studies focused on these shortcomings with the ultimate aim being the formulation and implementation of universally accepted guidelines for safe and efficient management of blunt splenic trauma.

Sequence-ready contig for the 1.4-cM ductal carcinoma in situ loss of heterozygosity region on chromosome 8p22-p23.

We report the construction of an approximately 1.7-Mb sequence-ready YAC/BAC clone contig of 8p22-p23. This chromosomal region has been associated with frequent loss of heterozygosity (LOH) in breast, ovarian, prostate, head and neck, and liver cancer. We first constructed a meiotic linkage map for 8p to resolve previously reported conflicting map orders from the literature. The target region containing a putative tumor suppressor gene was defined by allelotyping 65 cases of sporadic ductal carcinoma in situ with 18 polymorphic markers from 8p. The minimal region of loss encompassed the interval between D8S520 and D8S261, and one tumor had loss of D8S550 only. We chose to begin physical mapping of this minimal LOH region by concentrating on the distal end, which includes D8S550. A fine-structure radiation hybrid map for the region that extends from D8S520 (distal) to D8S1759 (proximal) was prepared, followed by construction of a single, integrated YAC/BAC contig for the interval. The approximately 1730-kb contig consists of 13 YACs and 27 BACs. Fifty-four sequence-tagged sites (STSs) developed from BAC insert end-sequences and 11 expressed sequence tags were localized within the contig by STS content mapping. In addition, four unique cDNA clones from the region were isolated and fully sequenced. This integrated YAC/BAC resource provides the starting point for transcription mapping, genomic sequencing, and positional cloning of this region.