Titin, an important protein in the sarcomere, is the largest human protein. This study identified mutations in the titin gene that result in a truncated protein as important causes of dilated ...cardiomyopathy.
Gene mutation is an important cause of cardiomyopathy. Mutations in eight sarcomere-protein genes cause hypertrophic cardiomyopathy, detected in 40 to 70% of patients.
1
,
2
Variations in more than 40 genes, most of which encode components of the sarcomere, the cytoskeleton, or the nuclear lamina, have been shown or posited to cause dilated cardiomyopathy.
3
,
4
Clinical evaluation identifies 30 to 50% of patients with dilated cardiomyopathy as having a relative who is affected or likely to be affected,
5
–
7
implicating a genetic cause. However, pathogenic mutations have been found in only 20 to 30% of patients.
8
TTN,
the gene encoding titin, . . .
In conflict zones, providers may have to decide between delaying time-sensitive surgeries or performing operative interventions in the field, potentially subjecting patients to significant infection ...risks. We conducted a single-arm crossover study to assess the feasibility of using an ultraportable operating room (U-OR) for surgical procedures on a porcine cadaver abdominal traumatic injury model in an active war zone.
We enrolled participants from an ASSET-type course designed to train Ukrainian surgeons before deployment to active conflict zones. They performed three standardized consecutive abdominal surgical procedures (liver, kidney, and small bowel injury repair) with and without the U-OR. Primary outcomes included surgical procedure completion rate, procedure time, and airborne particle count at the start of surgery. Secondary survey-based outcomes assessed surgery task load index (SURG-TLX) and perceived operative factors.
Fourteen surgeons performed 76 surgical procedures (38 with the U-OR, 38 without the U-OR). The completion rate for each surgical procedure was 100% in both groups. While the procedure time for the liver injury repair did not differ significantly between the two groups, the use of the U-OR was associated with a longer time for kidney (155 vs. 56 s, p = 0.002), and small bowel (220 vs. 103 s, p = 0.004) injury repair. The average airborne particle count within the U-OR was substantially lower compared to outside the U-OR (6,753,852 vs. 232,282 n/m
, p < 0.001). There was no statistically significant difference in SURG-TLX for procedures performed with and without the U-OR.
The use of the U-OR did not affect the procedure completion rate or SURG-TLX. However, there was a marked difference in airborne particle counts between inside and outside the U-OR during surgery. These preliminary findings indicate the potential feasibility of using a U-OR to perform abdominal damage-control surgical procedures in austere settings.
There is an association between coronavirus disease 2019 (COVID-19) mRNA vaccination and the incidence or exacerbation of postural orthostatic tachycardia syndrome (POTS).
The purpose of this study ...was to characterize patients reporting new or exacerbated POTS after receiving the mRNA COVID-19 vaccine.
We prospectively collected data from sequential patients in a POTS clinic between July 2021 and June 2022 reporting new or exacerbated POTS symptoms after COVID-19 vaccination. Heart rate variability (HRV) and skin sympathetic nerve activity (SKNA) were compared against those of 24 healthy controls.
Ten patients (6 women and 4 men; age 41.5 ± 7.9 years) met inclusion criteria. Four patients had standing norepinephrine levels > 600 pg/mL. All patients had conditions that could raise POTS risk, including previous COVID-19 infection (N = 4), hypermobile Ehlers-Danlos syndrome (N = 6), mast cell activation syndrome (N = 6), and autoimmune (N = 7), cardiac (N = 7), neurological (N = 6), or gastrointestinal conditions (N = 4). HRV analysis indicated a lower ambulatory root mean square of successive differences (46.19 ±24 ms; P = .042) vs control (72.49 ± 40.8 ms). SKNA showed a reduced mean amplitude (0.97 ± 0.052 μV; P = .011) vs control (1.2 ± 0.31 μV) and burst amplitude (1.67 ± 0.16 μV; P = .018) vs control (4. 3 ± 4.3 μV). After 417.2 ± 131.4 days of follow-up, all patients reported improvement with the usual POTS care, although 2 with COVID-19 reinfection and 1 with small fiber neuropathy did have relapses of POTS symptoms.
All patients with postvaccination POTS had pre-existing conditions. There was no evidence of myocardial injuries or echocardiographic abnormalities. The decreased HRV suggests a sympathetic dominant state. Although all patients improved with guideline-directed care, there is a risk of relapse.
Purpose: A third of the global disease burden requires surgical therapy, yet in disaster-affected areas and lower-middle income countries, 5 billion people have little or no access to safe surgical ...care. We develop, evaluate, and aim to deploy a new technology to help increase access to safe surgery.Methods: We conducted a needs assessment, then used iterative prototyping to incorporate stakeholder feedback and testing of all components. Proof-of-concept testing of the prototype entailed setup over a mannequin and using a particle counter to evaluate ability to provide a contaminant-free sterile field.Results: Our prototype shrinks the scope of the sterility challenge from the room to the critical space immediately over the incision. Users seal the modular system of sterile clear containers over the patient and operate via ports. An integrated airflow system controls enclosure conditions. Everything folds for rapid deployment. Testing demonstrates superior environmental control compared to standard operating rooms, including setup time, time to surgical site sterility, resistance to active contamination, and air changes per hour.Conclusions: Our results indicate that it is possible to provide state-of-the-art levels of sterility during surgeries even in austere settings, by using a low-cost, ultraportable, modular system co-developed with key stakeholders.
Over 25% of the global disease burden requires surgical therapy, which could prevent over 18 million deaths per year. Yet two billion people have no meaningful access to safe surgical care, and two ...to three billion more have access only to unsterile surgeries, leading to disproportionate rates of surgical infections. At the same time, over 85,000 medical providers are infected by patient bodily fluids annually, with 90% of infected providers worldwide having been exposed while working in austere settings. We have designed SurgiBox to address both patient and provider safety in surgeries by providing protection of the surgical field microenvironment and by functioning as more effective personal protective equipment for provider teams. The SurgiBox platform integrates into standard surgical workflow as a clear, sterile enclosure sealed to the patient then accessed via arm ports and material ports. An integrated environmental system controls field conditions to produce state-of-the-art levels of sterility within two minutes. The fully self-contained device can collapse to fit in a backpack for rapid deployment and can be set up rapidly using draping methods familiar to surgical teams. This combined barrier and active protection system embodies a paradigm shift away from the operating "room" with all its infrastructural limitations and toward protecting the critical surgical site and personnel.
PDF
