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Pena-Shokeir syndrome: current management strategies and palliative care.

ABSTRACT: Pena-Shokeir syndrome (PSS) type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death. It is characterized by markedly decreased fetal movements, intrauterine growth restriction, joint contractures, short umbilical cord, and features of pulmonary hypoplasia. Antenatal diagnosis can be difficult. Ultrasound features are varied and may overlap with those of Trisomy 18. The poor prognosis of PSS is due to pulmonary hypoplasia, which is an important feature that distinguishes PSS from arthrogryposis multiplex congenital without pulmonary hypoplasia, which has a better prognosis. If diagnosed in the antenatal period, a late termination of pregnancy can be considered following ethical discussion (if the law allows). In most cases, a diagnosis is only made in the neonatal period. Parents of a baby affected with PSS require detailed counseling that includes information on the imprecise recurrence risks and a plan for subsequent pregnancies.

SUBMITTER: Adam S

PROVIDER: S-EPMC6207248 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Pena-Shokeir syndrome: current management strategies and palliative care.

Adam Sumaiya S Coetzee Melantha M Honey Engela Magdalena EM

The application of clinical genetics 20181025

Pena-Shokeir syndrome (PSS) type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death. It is characterized by markedly decreased fetal movements, intrauterine growth restriction, joint contractures, short umbilical cord, and features of pulmonary hypoplasia. Antenatal diagnosis can be difficult. Ultrasound features are varied and may overlap with those of Trisomy 18. The poor prognosis of PSS is due to ...[more]

PMID: 30498368

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Project description:Conflict is common between physicians and surrogate decision makers around end-of-life care in ICU. Involving experts in conflict management improve outcomes, but little is known about what differences in conflict management styles may explain the benefit. We used simulation to examine potential differences in how palliative care specialists manage conflict with surrogates about end-of-life treatment decisions in ICUs compared with intensivists.Subjects participated in a high-fidelity simulation of conflict with a surrogate in an ICU. In this simulation, a medical actor portrayed a surrogate decision maker during an ICU family meeting who refuses to follow an advance directive that clearly declines advanced life-sustaining therapies. We audiorecorded the simulation encounters and applied a coding framework to quantify conflict management behaviors, which was organized into two categories: task-focused communication and relationship building. We used negative binomial modeling to determine whether there were differences between palliative care specialists' and intensivists' use of task-focused communication and relationship building.Single academic medical center ICU.Palliative care specialists and intensivists.None.We enrolled 11 palliative care specialists and 25 intensivists. The palliative care specialists were all attending physicians. The intensivist group consisted of 11 attending physicians, 9 pulmonary and critical care fellows, and 5 internal medicine residents rotating in the ICU. We excluded five residents from the primary analysis in order to reduce confounding due to training level. Physicians' mean age was 37 years with a mean of 8 years in practice. Palliative care specialists used 55% fewer task-focused communication statements (incidence rate ratio, 0.55; 95% CI, 0.36-0.83; p = 0.005) and 48% more relationship-building statements (incidence rate ratio, 1.48; 95% CI, 0.89-2.46; p = 0.13) compared with intensivists.We found that palliative care specialists engage in less task-focused communication when managing conflict with surrogates compared with intensivists. These differences may help explain the benefit of palliative care involvement in conflict and could be the focus of interventions to improve clinicians' conflict resolution skills.

Project description:Introduction: Mal de Debarquement Syndrome (MdDS) is a neurological disorder which affects the vestibular system pathways, manifesting as a constant sensation of movement in the form of rocking, bobbing, or swaying. The mechanism of MdDS is poorly understood and there is a lack of awareness amongst medical professionals about the condition. This study aimed to examine treatments and symptom management strategies used by MdDS patients and evaluate their self-reported effectiveness. Method: Motion-Triggered and Spontaneous/Other onset MdDS patients responded to a set of comprehensive questions as a retrospective survey regarding epidemiological details, diagnostic procedures, onset, and symptom triggers, hormonal influences as well as treatments and symptom management strategies used to reduce symptoms. The Motion-Triggered questionnaire was made available through Survey Monkey and the Spontaneous/Other Onset questionnaire through Qualtrics. The link for each questionnaire was made available on online MdDS support groups and on various research websites. Descriptive statistics were used for epidemiological data and Pearson's Chi Square tests were used for comparisons between and within both subtype groups. Results: A total of 370 patients participated in the surveys, with 287 valid responses collected for the section regarding treatment and symptom management strategies. The success of the treatments and symptom management strategies did not vary between subtypes Benzodiazepines/Antidepressants were reported as being most beneficial in reducing symptoms in both groups. Conclusion: This was the first attempt to evaluate the reported success of treatments and symptom management strategies in MdDS patients by assessing the patients' perceived helpfulness. The treatments and symptom management strategies reported to be the most helpful in managing and/or reducing symptoms are proposed to be effective due to their stress-reducing capacities. We hope this study will broaden MdDS awareness and that this study will increase patient knowledge regarding treatments and symptom management strategies that other patients found helpful.

Project description:BackgroundThis article describes the second update of a Cochrane review on the effectiveness of laxatives for the management of constipation in people receiving palliative care. Previous versions were published in 2006 and 2010 where we also evaluated trials of methylnaltrexone; these trials have been removed as they are included in another review in press. In these earlier versions, we drew no conclusions on individual effectiveness of different laxatives because of the limited number of evaluations. This is despite constipation being common in palliative care, generating considerable suffering due to the unpleasant physical symptoms and the availability of a wide range of laxatives with known differences in effect in other populations.ObjectivesTo determine the effectiveness and differential efficacy of laxatives used to manage constipation in people receiving palliative care.Search methodsWe searched the Cochrane Central Register of Controlled Trials (CENTRAL; The Cochrane Library), MEDLINE, EMBASE, CINAHL and Web of Science (SCI & CPCI-S) for trials to September 2014.Selection criteriaRandomised controlled trials (RCTs) evaluating laxatives for constipation in people receiving palliative care.Data collection and analysisTwo authors assessed trial quality and extracted data. The appropriateness of combining data from the studies depended upon clinical and outcome measure homogeneity.Main resultsWe identified five studies involving the laxatives lactulose, senna, co-danthramer, misrakasneham, docusate and magnesium hydroxide with liquid paraffin. Overall, the study findings were at an unclear risk of bias. As all five studies compared different laxatives or combinations of laxatives, it was not possible to perform a meta-analysis. There was no evidence on whether individual laxatives were more effective than others or caused fewer adverse effects.Authors' conclusionsThis second update found that laxatives were of similar effectiveness but the evidence remains limited due to insufficient data from a few small RCTs. None of the studies evaluated polyethylene glycol or any intervention given rectally. There is a need for more trials to evaluate the effectiveness of laxatives in palliative care populations. Extrapolating findings on the effectiveness of laxatives evaluated in other populations should proceed with caution. This is because of the differences inherent in people receiving palliative care that may impact, in a likely negative way, on the effect of a laxative.

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Pena-Shokeir syndrome: current management strategies and palliative care.

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Pena-Shokeir syndrome: current management strategies and palliative care.

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