Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ deficiency: Hypomorphic variants and two distinct disease entities.

Primary coenzyme Q10 (CoQ) deficiency is a group of inborn errors of metabolism caused by defects in CoQ biosynthesis. Biallelic pathogenic variants in COQ7, encoding mitochondrial 5-demethoxyubiquinone hydroxylase, have been reported in nine patients from seven families. We identified five new patients with COQ7-related primary CoQ deficiency, performed clinical assessment of the patients, and studied the functional effects of current and previously reported COQ7 variants and potential treatment options.

Changes in Pediatric Intensive Care Admissions in Wisconsin During the 2020 COVID-19 Pandemic.

Background: We perceived changes in the frequency of and reasons for admissions to Wisconsin pediatric intensive care units (PICU) during the advent of the COVID-19 pandemic, and we hypothesized that the rates of total, scheduled, and respiratory viral admissions were lower during the first calendar year of the pandemic than would have been predicted by historical admission data. Such findings would reflect important changes in PICU utilization paradigms during the pandemic. There are no descriptions of PICU admission changes in a single American state during the pandemic.

Anesthesia Machine Failure: A Case Study.

This article examines successful management of an anesthesia machine failure with the Draeger (or Dräger) Apollo (Draeger Inc) anesthesia workstation. Approximately 45 minutes into the case, while the patient was under general anesthesia and mechanical ventilation, the anesthesia machine failed to achieve positive pressurization following a high-pressure alarm. Despite multiple maneuvers, the issue did not resolve until the machine was manually powered off and on at the main power switch.

Early Readmissions after Esophagectomy for Esophageal Adenocarcinoma: Does Facility Case-Volume Matter?

Increased esophagectomy procedures over the past four decades have correlated with the rise in incidence of esophageal adenocarcinoma. Despite advances in technology and procedural expertise, esophagectomy remains a high-risk surgical procedure. Higher volume facilities have more experience with esophagectomy and would be expected to have a lower incidence of surgical complications and attendant morbidity and mortality.

An unusual case of proton pump inhibitor induced hyperchromograninemia.

: To describe an unusual case of symptomatic hyperchromograninemia associated with proton pump inhibitor (PPI) use. : A 55-year-old man with stage 1 follicular lymphoma and GERD on omeprazole presented with symptoms suggesting carcinoid syndrome. The only positive finding on workup was a markedly elevated level of chromogranin A and no carcinoid tumor was identified.

The Impact of Mindfulness Strategies for Nurses in a Residency Program.

The purpose of this pilot study was to evaluate the impact of mindfulness education of new graduate nurse residents' awareness and use of mindfulness strategies. This pre-post education design study was approved by the university institutional review board. Mindfulness has been shown to improve focus on patient care and reduce job stress and nurse turnover.

Gamma Putty dosimetric studies in electron beam.

Traditionally, lead has been used for field shaping in megavoltage electron beams in radiation therapy. In this study, we analyze the dosimetric parameters of a nontoxic, high atomic number (Z = 83), bismuth-loaded material called Gamma Putty that is malleable and can be easily molded to any desired shape. First, we placed an ionization chamber at different depths in a solid water phantom under a Gamma Putty shield of thickness (t = 0, 3, 5, 10, 15, 20, and 25 mm, respectively) and measured the ionizing radiation on the central axis (CAX) for electron beam ranging in energies from 6 to 20 MeV.