Purpose: To identify the genetic basis of Schnyder crystalline corneal dystrophy (SCCD) through screening positional candidate genes and UBIAD1, in which mutations have been associated with SCCD, in affected families. Methods: The coding region of each of the 16 positional candidate genes for which mutation screening has not been previously reported was screened with polymerase chain reaction (PCR) amplification and automated sequencing in four affected individuals from two families with SCCD. In addition, the coding region of UBIAD1, located just outside of the originally described SCCD candidate interval on chromosome 1p36, was directly sequenced in affected and unaffected individuals from three families with SCCD. Results: Eighteen novel and 15 previously reported sequence variants were identified in 10 of the 16 positional candidate genes. Only two of the sequence variants segregated with the affected phenotype in either of the families screened. Both were novel single nucleotide polymorphisms (SNPs) predicted to result in synonymous amino acid substitutions in different predicted genes. However, one of these SNPs was also identified in control individuals, and the other SNP was not predicted to alter splicing. Screening of UBIAD1 revealed a different missense mutation in each of the three unrelated probands that was screened: p.Asn102Ser, p.Arg119Gly, and p.Leu121Val. Screening of the affected and unaffected relatives of the probands in whom the p.Asn102Ser and p.Leu121Val mutations were identified demonstrated that each mutation segregated with the affected phenotype. None of the three missense mutations was identified in 110 control individuals. Conclusions: No presumed pathogenic coding region mutations were identified in the genes mapped to the candidate region for SCCD. However, missense mutations in UBIAD1, located just outside of the originally described SCCD fine mapped region, were identified in each of the three families with SCCD, confirming that mutations in UBIAD1 are associated with SCCD.
Coronavirus disease 2019 (COVID-19) was declared a pandemic by the WHO on 11 March 2020 and global surgical practice was compromised. This Commission aimed to document and reflect on the changes seen in the surgical environment during the pandemic, by reviewing colleagues' experiences and published evidence. In late 2020, BJS contacted colleagues across the global surgical community and asked them to describe how severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) had affected their practice. In addition to this, the Commission undertook a literature review on the impact of COVID-19 on surgery and perioperative care. A thematic analysis was performed to identify the issues most frequently encountered by the correspondents, as well as the solutions and ideas suggested to address them. BJS received communications for this Commission from leading clinicians and academics across a variety of surgical specialties in every inhabited continent. The responses from all over the world provided insights into multiple facets of surgical practice from a governmental level to individual clinical practice and training. The COVID-19 pandemic has uncovered a variety of problems in healthcare systems, including negative impacts on surgical practice. Global surgical multidisciplinary teams are working collaboratively to address research questions about the future of surgery in the post-COVID-19 era. The COVID-19 pandemic is severely damaging surgical training. The establishment of a multidisciplinary ethics committee should be encouraged at all surgical oncology centres. Innovative leadership and collaboration is vital in the post-COVID-19 era.
Background This study aimed to identify which emergency department (ED) factors impact door-to-needle (DTN) time in acute stroke patients eligible for intravenous thrombolysis. The purpose of analyzing emergency department factors is to determine whether any modifiable factors could shorten the time to thrombolytics, thereby increasing the odds of improved clinical outcomes. Methods This was a prospective observational quality registry study that included all patients that received alteplase for stroke. These data are our hospital data from the national Get With The Guidelines Registry. The Get With The Guidelines ® Stroke Registry is a hospital-based program focused on improving care for patients diagnosed with a stroke. The program has over five million patients, and hospitals can access their own program data. The registry promotes the use of and adherence to scientific treatment guidelines to improve patient outcomes. The time of patient arrival to the ED was captured via the timestamp in the electronic health record. Arriving between Friday 6 p.m. and Monday 6 a.m. was classified as “weekend,” regardless of the time of arrival. Time to CT, time-to-lab, and presence of a dedicated stroke team were also recorded. Emergency medical services (EMS) run sheets were used to verify arrival via ambulance. Results Forty-nine percent of the cohort presented during the day shift, 24% during the night shift, and 27% on the weekend. A total of 85% were brought by EMS, and 15% of patients were walk-ins. The median DTN time during the day shift was 37 min (IQR 26–51, range 10–117). The median DTN time during the night shift was 59 min (IQR 39–89, range 34–195). When a dedicated stroke team was present, the median DTN time was 36 min, compared to 51 min when they were not present. The median door-to-CT time was 24 min (IQR 18–31 min). On univariate analyses, arriving during the night shift ( P < 0.0001), arriving as a walk-in ( P = 0.0080), and longer time-to-CT ( P < 0.0001) were all associated with longer DTN time. Conversely, the presence of a dedicated stroke team was associated with a significantly shorter DTN time ( P < 0.0001). Conclusion Factors that contribute most to a delay in DTN time include arrival during the night shift, lack of a dedicated stroke team, longer time-to-CT read, and arrival as a walk-in. All of these are addressable factors from an operational standpoint and should be considered when performing quality improvement of hospital protocols.
The acceptability and effectiveness of flavored versus unflavored oral rehydration salts (ORS) were investigated in a prospective study involving 112 children 1-24 months of age treated at Karachis National Institute of Child Health for mild to moderate diarrhea-associated dehydration. The 56 children in Group A received the standard WHO ORS formula while the 56 children in Group B received the WHO preparation flavored with a lemon-lime agent. If either of the solutions was refused 3 consecutive times the alternate formulation was offered. The average amount of ORS consumed before rehydration was achieved was 350 ml in Group A and 372.3 ml in Group B while the average time taken for rehydration was 3.14 hours in Group A and 3.09 hours in Group B. Acceptability was good (defined as ingestion of 70-100% of the required amount) during the initial rehydration period in 85.7% of children in Group A and 87.5% of those in Group B. During the maintenance period however a marked preference was manifested for the flavored solution which was consumed in significantly greater quantities. A disadvantage of this preference was the greater incidence of overhydration in Group B (19.6% versus 3.6% in Group A) in the maintenance period; another disadvantage was the fact that 21.2% of children in Group B compared with only 8.2% of those in Group A were hypernatremic after 24 hours. Overall these findings suggest that while flavored ORS can be used during the initial rehydration period the unflavored solution is a safer maintenance therapy.
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