Author Interviews, Critical Care - Intensive Care - ICUs, Genetic Research, Pediatrics / 10.03.2025
Optimized Care Improves Survival of Infants with Severe Genetic Bone Disorder, Osteogenesis imperfecta
MedicalResearch.com Interview with:
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Dr. Carroll[/caption]
Ricki S. Carroll, MD
Complex Care and Palliative Care Physician, Skeletal Dysplasia and Palliative Care Teams
Nemours Children’s Hospital
Wilmington, Delaware
MedicalResearch.com: What is the background for this study?
Response: Individuals with Osteogenesis imperfecta (OI) are often classified into one of four subtypes: type I (mild/nondeforming), type II (perinatal lethal), type III (severe/progressively deforming) and type IV (moderately deforming); however, this classification system continues to evolve with increasing knowledge (Sillence, 1979; Van Dyke & Sillence, 2014). Those with a mild phenotype are often diagnosed postnatally or in the pediatric setting after experiencing multiple unexplained fractures. Concerns for moderate to severely presenting OI are often noted in utero when fractures, shortening, and/or bowing of the long bones are found on prenatal ultrasound (Marini et al, 2017).
When Osteogenesis imperfecta is suspected and/or molecularly confirmed in the prenatal period, families may be counseled that the diagnosis is lethal or severely life-limiting based on prenatal ultrasound observations and previously reported genotype-phenotype correlations (Yoshimura et al., 1996; Krakow et al., 2009). Ultrasound parameters for predicting lethality in skeletal dysplasias have been studied and include the chest-to-abdominal circumference ratio of <0.6 and femur length-to-abdominal circumference ratio of <0.16 (Yoshimura et al., 1996; Rahemtullah et al., 1997; Ramus et al., 1998). However, there are nuances to this strategy, for instance in cases where bowing deformities and fractures limit the accuracy of true femur length measurements (Milks et al., 2017). While genotype-phenotype correlations are also considered when predicting lethality, there can be a range of clinical variability even among those with the same genotype (Rauch et al., 2004, Marini et al, 2017). Some specialized delivery centers have reported on the accuracy of these methods in predicting lethality, yet many of the pregnancies evaluated are ultimately terminated, further limiting the ability to draw conclusions (Yeh et al., 2011). These limitations pose a challenge for perinatal providers counseling families on the diagnosis and attempting to prognosticate postnatal survival probability. Consequently, this information can cloud conversations surrounding delivery planning and influence access to potential life-saving therapies including invasive mechanical ventilation and feeding support.
Advancements in medical technology and the option for life-sustaining interventions have significantly altered the prognoses for severely affected infants. In this manuscript, we describe perinatal outcomes of infants referred to a single specialized center after receiving a prior diagnosis of possibly lethal, lethal or type II OI where parents sought medical intervention after birth. We also outline advances in respiratory and feeding support needs, as well as length-of-stay for these neonates. The success of this multidisciplinary approach to neonatal OI care both challenges previously defined expectations for this patient population and offers a chance at survival.
Dr. Carroll[/caption]
Ricki S. Carroll, MD
Complex Care and Palliative Care Physician, Skeletal Dysplasia and Palliative Care Teams
Nemours Children’s Hospital
Wilmington, Delaware
MedicalResearch.com: What is the background for this study?
Response: Individuals with Osteogenesis imperfecta (OI) are often classified into one of four subtypes: type I (mild/nondeforming), type II (perinatal lethal), type III (severe/progressively deforming) and type IV (moderately deforming); however, this classification system continues to evolve with increasing knowledge (Sillence, 1979; Van Dyke & Sillence, 2014). Those with a mild phenotype are often diagnosed postnatally or in the pediatric setting after experiencing multiple unexplained fractures. Concerns for moderate to severely presenting OI are often noted in utero when fractures, shortening, and/or bowing of the long bones are found on prenatal ultrasound (Marini et al, 2017).
When Osteogenesis imperfecta is suspected and/or molecularly confirmed in the prenatal period, families may be counseled that the diagnosis is lethal or severely life-limiting based on prenatal ultrasound observations and previously reported genotype-phenotype correlations (Yoshimura et al., 1996; Krakow et al., 2009). Ultrasound parameters for predicting lethality in skeletal dysplasias have been studied and include the chest-to-abdominal circumference ratio of <0.6 and femur length-to-abdominal circumference ratio of <0.16 (Yoshimura et al., 1996; Rahemtullah et al., 1997; Ramus et al., 1998). However, there are nuances to this strategy, for instance in cases where bowing deformities and fractures limit the accuracy of true femur length measurements (Milks et al., 2017). While genotype-phenotype correlations are also considered when predicting lethality, there can be a range of clinical variability even among those with the same genotype (Rauch et al., 2004, Marini et al, 2017). Some specialized delivery centers have reported on the accuracy of these methods in predicting lethality, yet many of the pregnancies evaluated are ultimately terminated, further limiting the ability to draw conclusions (Yeh et al., 2011). These limitations pose a challenge for perinatal providers counseling families on the diagnosis and attempting to prognosticate postnatal survival probability. Consequently, this information can cloud conversations surrounding delivery planning and influence access to potential life-saving therapies including invasive mechanical ventilation and feeding support.
Advancements in medical technology and the option for life-sustaining interventions have significantly altered the prognoses for severely affected infants. In this manuscript, we describe perinatal outcomes of infants referred to a single specialized center after receiving a prior diagnosis of possibly lethal, lethal or type II OI where parents sought medical intervention after birth. We also outline advances in respiratory and feeding support needs, as well as length-of-stay for these neonates. The success of this multidisciplinary approach to neonatal OI care both challenges previously defined expectations for this patient population and offers a chance at survival.
Dr. Potter[/caption]
MedicalResearch.com Interview with:
Kelly Potter, PhD, RN, CNE
T32 Postdoctoral Scholar
CRISMA Center, Department of Critical Care Medicine
University of Pittsburgh
MedicalResearch.com: What is the background for this study?
Response: While it is well-recognized that survivors of critical illness often experience persistent problems with mental, cognitive, and physical health, very little is known about how these problems (collectively known as post-intensive care syndrome (PICS)) affect resumption of meaningful activities, such as driving.
Dr. Wong[/caption]
Susan P. Y. Wong, MD MS
Assistant Professor
Division of Nephrology
University of Washington
VA Puget Sound Health Care System
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Very little is known about the care and outcomes of patients who reach the end stages of kidney disease and do not pursue dialysis. We conducted a systematic review of longitudinal studies on patients with advanced kidney disease who forgo dialysis to determine their long-term outcomes.
We found that many patients survived several years and experienced sustained quality of life until late in the illness course. However, use of acute care services was common and there was a high degree of variability in access to supportive care services near the end of life.
Tejasvi Hora[/caption]
Tejasvi Hora, PhD Candidate
Department of Geography and Environmental Management, University of Waterloo
Data Analyst, GEMINI, Unity Health Toronto
MedicalResearch.com: What is the background for this study?
Response: Death rates and resource use for COVID-19 hospitalization vary significantly worldwide, however, the characteristics and outcomes of COVID-19 hospitalizations in Canada have not been described in detail. Further, there is considerable uncertainty about how COVID-19 compares with influenza. In some circles, COVID-19 has been dismissed as being not more severe than “the flu”. We used data extracted from electronic health records of 7 hospitals in Ontario, Canada to describe characteristics and outcomes of hospitalization for COVID-19 and influenza. 
Dr. Conway Morris[/caption]
Dr Andrew Conway Morris
Wellcome Trust Clinical Research Career Development Fellow
University of Cambridge
Hon Consultant in Intensive Care Medicine
Addenbrookes Hospital, Cambridge
MedicalResearch.com: What is the background for this study?
Response: Patients with COVID-19 frequently need to come to the intensive care unit (ICU), where we use mechanical ventilation to support their lungs as they get over the intense inflammation caused by the virus. During the first wave of the virus we noted that a lot of our patients appeared to be developing secondary infections (infections they didn’t have when they came into the ICU).
We therefore rolled out a rapid diagnostic test for these secondary bacterial infections that we had developed previously, and this study reports the use of this diagnostic and also describes the types of bacteria seen. To see if the increase in secondary infections was due to COVID specifically, we compared them to patients who were managed in the same ICU but who did not have COVID.
Dr. Chua[/caption]
Isaac Chua, MD, MPH
Division of General Internal Medicine and Primary Care
Brigham and Women's Hospital
MedicalResearch.com: What is the background for this study?
Response: Patient surveys have shown that most people prefer to die at home at the end-of-life. However, during the initial wave of the COVID-19 pandemic, anecdotal evidence from our colleagues and findings from a prior study published in the Journal of the American Geriatrics Society suggested that majority of COVID-19 decedents died in a medical facility. However, less is known about care intensity at the end-of-life according to place of death among patients who died of COVID-19. Therefore, we characterized end-of-life care by place of death among COVID-19 decedents at Mass General Brigham (MGB), the largest health system in Massachusetts. 
Dr. Mazzeffi[/caption]
Michael Mazzeffi MD MPH MSc
Associate Professor of Anesthesiology
Division Chief Anesthesiology Critical Care Medicine
Medical Director Rapid Response Team
MedicalResearch.com: What is the background for this study?
Response: We have known for some time that COVID19 is characterized by hypercoagulability or excess blood clotting. In fact, the incidence of blood clots in the lungs (pulmonary emboli) is as high 20% and is two to three times more common in COVID19 than in severe influenza. Further, autopsies of patients who died from COVID19 have shown that endothelial cells (cells that line the blood vessels) are damaged and that "micro clots" form in multiple organs. Together, these findings strongly suggest that excess blood clotting and endothelial cell dysfunction are defining features of severe COVID19.
For several months, my colleagues and I have been interested in whether aspirin might improve outcomes in patients with severe COVID19. In prior observational research studies, aspirin was found to be protective in patients with severe lung injury. The general idea is that aspirin reduces platelet aggregates in the lung and this improves outcome. Unfortunately, in a prior randomized controlled study (LIPS-A) aspirin was not shown to reduce the incidence of acute respiratory distress syndrome. Nevertheless, COVID19 has unique features that make aspirin more likely to be effective. Mainly COVID19 is associated with hypercoagulability to a greater degree than in other viral illnesses. 
![MedicalResearch.com Interview with: Regis Goulart Rosa, MD, PhD Responsabilidade Social - PROADI Hospital Moinhos de Vento MedicalResearch.com: What is the background for this study? Response: The debate about visiting policies in adult ICUs is of broad and current interest in critical care, with strong advocacy in favour of flexible family visitation models in order to promote patient- and family-centred care. However, the proportion of adult ICUs with unrestricted visiting hours is very low. Data from the literature show that 80% of hospitals in the United Kingdom and USA adopt restrictive ICU visiting policies. Among ICUs with restrictive visiting hours, published studies show that the daily visiting time ranges from a median of 1 hour in Italy to a mean of 4.7 hours in France. In agreement with this scenario, most adult ICUs in Brazil follow a restrictive visitation model, in which family members are allowed to visit the critically ill patient from 30 minutes to 1 hour, once or twice a day. These restrictive visitation models have been justified by the theoretical risks associated with unrestricted visiting hours, mainly infectious complications, disorganization of care, and burnout. Controversially, these risks have not been consistently confirmed by the scarce literature on the subject, and flexible ICU visiting hours have been proposed as a means to prevent delirium among patients and improve family satisfaction. MedicalResearch.com: What are the main findings? Response: Disappointingly, studies evaluating the effectiveness and safety of flexible ICU visiting hours are scarce. To date, no large randomized trials have assessed the impact of a flexible visiting model on patients, family members, and ICU staff, and this evidence gap may constitute a barrier to the understanding of the best way to implement and improve ICU visiting policies. In the present pragmatic cluster-randomized crossover trial (The ICU Visits Study), we engaged 1,685 patients, 1,295 family members, and 826 ICU professionals from 36 adult ICUs in Brazil to compare a flexible visitation model (12 hours/day plus family education) vs. the standard restricted visitation model (median 90 minutes per day). We found that the flexible visitation did not significantly reduce the incidence of delirium among patients, but was associated with fewer symptoms of anxiety and depression and higher satisfaction with care among family members in comparison to the usual restricted visitation. Also, the flexible visitation did not increase the incidence of ICU-acquired infections and ICU staff burnout, which are major concerns when adopting this intervention. MedicalResearch.com: What should readers take away from your report? Response: Considering the evidence suggesting that most adult ICUs restrict the presence of family members, our results provide useful and relevant information that may influence the debate about current ICU visitation policies around the world. First, a flexible visitation policy that permits flexible family visitation in ICU (up to 12 hour per day) is feasible, given the high adherence of participant ICUs to implementation in The ICU Visits Study. Second, the flexible family supported by family education is safe regarding the occurrence of infections, disorganization of care or staff burnout. Third, family members - a commonly missing piece of the critical care puzzle - seem to benefit from the flexible visitation model through higher satisfaction with care and less symptoms of anxiety and depression. MedicalResearch.com: What recommendations do you have for future research as a result of this work? Response: Future research might focus on the following topics: 1) methods of implementation of flexible visiting models in ICUs; 2) Family support interventions in the context of flexible ICU visiting hours (e.g.: psychological and social support, support for shared decision making, peer support, and comfort); and 3) How flexible ICU visiting hours affects patient, family member and staff outcome at long-term. Disclosures: The ICU Visits study was funded by the Brazilian Ministry of Health through the Brazilian Unified Health System Institutional Development Program (PROADI-SUS). Citation: Effect of Flexible Family Visitation on Delirium Among Patients in the Intensive Care Unit [wysija_form id="3"] [last-modified] The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.](https://medicalresearch.com/wp-content/uploads/hospital-ICU-intensive-care.jpg)
