scholarly journals 1233 Mitochondrial Myopathy Making It Hard To Sleep! OSA management in Mitochondrial Myopathy with a variant in SNAPC4 and PURA genes

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A470-A471
Author(s):  
Ugorji Okorie ◽  
Brittany Monceaux ◽  
Megan Smalley ◽  
Edmond Roberts ◽  
Cesar Liendo ◽  
...  

Abstract Introduction No standard of care exists for management of sleep disorders/sleep disordered breathing (SDB) and Mitochondrial myopathies. Our case report describes our experience with this condition in a pediatric patient. Report of Case A ten-year-old middle eastern male with PMH of Mitochondrial myopathy was referred to Sleep Medicine by ENT with reported snoring, witnessed apneic spells and daytime fatigue. Flexible Video Laryngoscopy did not reveal tonsillar or adenoid hypertrophy so it was postulated that his OSA was a result of his craniofacial abnormalities and global hypotonia. Genetic workup showed Mitochondrial complex II & III deficiency from a variant in SNAPC4 gene and PURA gene leading to failure to thrive, severe developmental delay, generalized muscle weakness, bradycardia requiring pacemaker, global hypotonia requiring nocturnal oxygen for chronic respiratory failure and G-tube placement due to difficulty with feedings. Diagnostic PSG showed severe OSA with AHI of 11.3, RDI 11.8, REM AHI 56.0, REM RDI 56, and minimum oxygen saturation 85%. Subsequent PAP titration led to initiation of BIPAP therapy with settings of Auto-BiPAP EPAP min 5, IPAP max 20; PSmin 4; PSmax 6 cm H2O and continuation of nocturnal home oxygen. Sleep fragmentation improved to an arousal index of 3.1 with BIPAP. The patient and caregiver presented to the Sleep Medicine clinic 1 month after the PAP titration study with objective report showing >4 hours use >70% of the time and subjective satisfaction with BIPAP therapy with improvement in snoring and apnea. Conclusion Mitochondrial disorders lead to a deficiency of ATP affecting all organ systems and is most recognizable in the form of neuromuscular impairments. Neuromuscular impairments can translate into SDB issues such as OSA. Patients with genetic conditions such as mitochondrial myopathy should be routinely screened and evaluated for SDB and treated if warranted to significantly improve morbidity, mortality and quality of life.

2019 ◽  
Vol 17 (4) ◽  
pp. 388-395 ◽  
Author(s):  
Abdulla Shehab ◽  
Khalid F. AlHabib ◽  
Akshaya S. Bhagavathula ◽  
Ahmad Hersi ◽  
Hussam Alfaleh ◽  
...  

Background: Most of the available literature on ST-Elevated myocardial infarction (STEMI) in women was conducted in the developed world and data from Middle-East countries was limited. Aims: To examine the clinical presentation, patient management, quality of care, risk factors and inhospital outcomes of women with acute STEMI compared with men using data from a large STEMI registry from the Middle East. Methods: Data were derived from the third Gulf Registry of Acute Coronary Events (Gulf RACE-3Ps), a prospective, multinational study of adults with acute STEMI from 36 hospitals in 6 Middle-Eastern countries. The study included 2928 patients; 296 women (10.1%) and 2632 men (89.9%). Clinical presentations, management and in-hospital outcomes were compared between the 2 groups. Results: Women were 10 years older and more likely to have diabetes mellitus, hypertension, and hyperlipidemia compared with men who were more likely to be smokers (all p<0.001). Women had longer median symptom-onset to emergency department (ED) arrival times (230 vs. 170 min, p<0.001) and ED to diagnostic ECG (8 vs. 6 min., p<0.001). When primary percutaneous coronary intervention (PPCI) was performed, women had longer door-to-balloon time (DBT) (86 vs. 73 min., p=0.009). When thrombolytic therapy was not administered, women were less likely to receive PPCI (69.7 vs. 76.7%, p=0.036). The mean duration of hospital stay was longer in women (6.03 ± 22.51 vs. 3.41 ± 19.45 days, p=0.032) and the crude in-hospital mortality rate was higher in women (10.4 vs. 5.2%, p<0.001). However, after adjustments, multivariate analysis revealed a statistically non-significant trend of higher inhospital mortality among women than men (6.4 vs. 4.6%), (p=0.145). Conclusion: Our study demonstrates that women in our region have almost double the mortality from STEMI compared with men. Although this can partially be explained by older age and higher risk profiles in women, however, correction of identified gaps in quality of care should be attempted to reduce the high morbidity and mortality of STEMI in our women.


2021 ◽  
Vol 9 ◽  
pp. 2050313X2110136
Author(s):  
Afsaneh Alavi ◽  
Jeannine Archer ◽  
Patricia Coutts

The objective of this case series was to assess the wound healing effectiveness of a collagen matrix wound dressing containing partially denatured collagen, carboxymethyl cellulose, alginate and ethylenediaminetetraacetic acid in chronic lower extremity ulcers. A total of nine patients with refractory lower extremity ulcers were treated with the collagen contact layer in addition to standard of care. Wound healing progress was measured at 2, 4 and 8 weeks. An average decrease in wound size of 73% was achieved across patients at week 8, with complete healing in two patients. The intervention was easy to use and well tolerated by patients. The results of this study, although preliminary, suggest that the advanced collagen matrix dressing represents an effective and safe treatment strategy for healing refractory chronic lower extremity ulcers of varying etiologies. Further investigation is needed to evaluate efficacy in a larger randomized clinical trial with focus on cost-effectiveness and impact on patient’s quality-of-life.


Author(s):  
Christian Muschitz ◽  
Anita Trummert ◽  
Theresa Berent ◽  
Norbert Laimer ◽  
Lukas Knoblich ◽  
...  

SummarySevere acute respiratory syndrome coronavirus type 2 (SARS-CoV-2), the etiological agent of coronavirus disease 2019 (COVID-19), produces protean manifestations and causes indiscriminate havoc in multiple organ systems. This rapid and vast production of proinflammatory cytokines contributes to a condition termed cytokine storm. A 35-year-old, otherwise healthy, employed, male patient was tested positive for COVID-19. He was admitted to the hospital on disease day 10 due to retarded verbal reactions and progressive delirium. On account of these conditions and the need for noninvasive/invasive ventilation, a combination treatment with baricitinib and remdesivir in conjunction with standard of care was initiated. The cytokine storm was rapidly blocked, leading to a vast pulmonary recovery with retarded recovery of the central nervous system. We conclude that the rapid blockade of the COVID-19-induced cytokine storm should be considered of avail as a principle of careful decision-making for effective recovery.


2021 ◽  
Vol 09 (03) ◽  
pp. E378-E387
Author(s):  
Konstantinos Triantafyllou ◽  
Paraskevas Gkolfakis ◽  
Alexandros Skamnelos ◽  
Georgia Diamantopoulou ◽  
Athanasios Dagas ◽  
...  

Abstract Background and study aims Bowel preparation for colonoscopy is frequently inadequate in hospitalized patients. We explored the impact of specific verbal instructions on the quality of inpatients bowel preparation and factors associated with preparation failure. Patients and methods Randomized (1:1), two strata (mobilized vs. bedridden; 3:2) trial of consecutive inpatients from four tertiary centers, who received either specific, verbal instructions or the standard of care (SOC) ward instructions about bowel preparation. The rate of adequate bowel preparation (Boston Bowel Preparation Score [BBPS] ≥ 6, no segment < 2) comprised the primary endpoint. Mean BBPS score, good (BBPS score ≥ 7, no segment score < 2) and excellent (BBPS = 9) were among secondary endpoints. Results We randomized 300 inpatients (180 mobile) aged 71.7 ± 15.1 years in the intervention (49.7 %) and SOC (50.3 %) groups, respectively. Overall, more patients in the intervention group achieved adequate bowel preparation, but this difference did not reach statistical significance neither in the intention-to-treat [90/149 (60.4 %) vs. 82/151 (54.3 %); P = 0.29] nor in the per-protocol analysis [90/129 (69.8 %) vs. 82/132 (62.1 %); P = 0.19]. Overall BBPS score did not differ statistical significantly in the two groups, but the provision of specific verbal instructions was associated with significant higher rates of good (58.1 % vs. 43.2 %; P = 0.02) and excellent (31.8 % vs. 16.7 %; P = 0.004) bowel preparation compared to the SOC group. Administration of same-day bowel preparation and patient American Society of Anesthesiologists score > 2 were identified as risk factors for inadequate bowel preparation. Conclusions Provision of specific verbal instructions did not increase the rate of adequate bowel preparation in a population of mobilized and bedridden hospitalized patients.


Author(s):  
Vladica M. Velickovic ◽  
Jean P. Lembelembe ◽  
Francisco Cegri ◽  
Ivana Binic ◽  
Amr B. Abdelaziz ◽  
...  

The aim of the research is to assess the benefit–harm of superabsorbent polymers wound dressings based on polyacrylate polymers (SAPs) compared with standard of care (SoC) dressing mix for patients with moderate-to-highly exuding hard-to-heal leg ulcers. The SoC dressings mix was composed of other superabsorbents in 29% of cases, antimicrobials 26%, foams 20%, alginates 5%, and other dressings 19% weighted according to their frequency. We have used the decision-analytic modeling method, Markov process, as an adequate analytical solution for medical prognosis. We have combined the systematic literature search to identify the most relevant inputs for the analysis, with available patient-level clinical data concerning benefits of superabsorbent to generate a robust prediction of patient-relevant outcomes, including healing rates and health-related quality of life. Besides, we have qualitatively described adverse events associated with those treatments. Our research indicates that SAPs when compared with SoC dressing mix in a patient with moderate-to-highly excluding leg ulcers are leading to an improved healing rate with an absolute risk difference of 2.20% in 6 months and a relative risk of 1.07 in favor of SAP dressings. The attributable fraction among those exposed to SAP dressings of 6.6%, meaning that 6.6% of the healed ulcers could be attributed to having had the SAP dressing treatment instead of the SoC dressing treatment. Besides, SAP dressings lead to improved quality of life measured as incremental quality-adjusted life weeks (QALWs) of 0.13 QALWs.


2021 ◽  
Vol 10 (5) ◽  
pp. 205846012110225
Author(s):  
Omer Aras ◽  
Stefan Harmsen ◽  
Richard Ting ◽  
Haluk B Sayman

Targeted radionuclide therapy has emerged as a promising and potentially curative strategy for high-grade prostate cancer. However, limited data are available on efficacy, quality of life, and pretherapeutic biomarkers. Here, we highlight the case of a patient with prostate-specific membrane antigen (PSMA)-positive metastatic castrate-resistant prostate cancer who displayed complete response to 225Ac-PSMA-617 after having been resistant to standard-of-care therapy, then initially partially responsive but later resistant to subsequent immunotherapy, and resistant to successive 177Lu-PSMA-617. In addition, the patient’s baseline germline mutation likely predisposed him to more aggressive disease.


2008 ◽  
Vol 23 (8) ◽  
pp. 561-566 ◽  
Author(s):  
Ronette L. Kolotkin ◽  
Patricia K. Corey-Lisle ◽  
Ross D. Crosby ◽  
Hong J. Kan ◽  
Robert D. McQuade

AbstractBackgroundThis is a secondary analysis of clinical trial data collected in 12 European countries. We examined changes in weight and weight-related quality of life among community patients with schizophrenia treated with aripiprazole (ARI) versus standard of care (SOC), consisting of other marketed atypical antipsychotics (olanzapine, quetiapine, and risperidone).MethodFive-hundred and fifty-five patients whose clinical symptoms were not optimally controlled and/or experienced tolerability problems with current medication were randomized to ARI (10–30 mg/day) or SOC. Weight and weight-related quality of life (using the IWQOL-Lite) were assessed at baseline, and weeks 8, 18 and 26. Random regression analysis across all time points using all available data was used to compare groups on changes in weight and IWQOL-Lite. Meaningful change from baseline was also assessed.ResultsParticipants were 59.7% male, with a mean age of 38.5 years (SD 10.9) and mean baseline body mass index of 27.2 (SD 5.1). ARI participants lost an average of 1.7% of baseline weight in comparison to a gain of 2.1% by SOC participants (p < 0.0001) at 26 weeks. ARI participants experienced significantly greater increases in physical function, self-esteem, sexual life, and IWQOL-Lite total score. At 26 weeks, 20.7% of ARI participants experienced meaningful improvements in IWQOL-Lite score, versus 13.5% of SOC participants. A clinically meaningful change in weight was also associated with a meaningful change in quality of life (p < 0.001). A potential limitation of this study was its funding by a pharmaceutical company.ConclusionsCompared to standard of care, patients with schizophrenia treated with aripiprazole experienced decreased weight and improved weight-related quality of life over 26 weeks. These changes were both statistically and clinically significant.


2015 ◽  
Vol 40 (4) ◽  
pp. 298-305 ◽  
Author(s):  
Yoshitsugu Obi ◽  
Rieko Eriguchi ◽  
Shuo-Ming Ou ◽  
Connie M. Rhee ◽  
Kamyar Kalantar-Zadeh

Background: The 2006 Kidney Disease Outcomes Quality Initiative guidelines suggest twice-weekly or incremental hemodialysis for patients with substantial residual kidney function (RKF). However, in most affluent nations de novo and abrupt transition to thrice-weekly hemodialysis is routinely prescribed for all dialysis-naïve patients regardless of their RKF. We review historical developments in hemodialysis therapy initiation and revisit twice-weekly hemodialysis as an individualized, incremental treatment especially upon first transitioning to hemodialysis therapy. Summary: In the 1960's, hemodialysis treatment was first offered as a life-sustaining treatment in the form of long sessions (≥10 hours) administered every 5 to 7 days. Twice- and then thrice-weekly treatment regimens were subsequently developed to prevent uremic symptoms on a long-term basis. The thrice-weekly regimen has since become the ‘standard of care' despite a lack of comparative studies. Some clinical studies have shown benefits of high hemodialysis dose by more frequent or longer treatment times mainly among patients with limited or no RKF. Conversely, in selected patients with higher levels of RKF and particularly higher urine volume, incremental or twice-weekly hemodialysis may preserve RKF and vascular access longer without compromising clinical outcomes. Proposed criteria for twice-weekly hemodialysis include urine output >500 ml/day, limited interdialytic weight gain, smaller body size relative to RKF, and favorable nutritional status, quality of life, and comorbidity profile. Key Messages: Incremental hemodialysis including twice-weekly regimens may be safe and cost-effective treatment regimens that provide better quality of life for incident dialysis patients who have substantial RKF. These proposed criteria may guide incremental hemodialysis frequency and warrant future randomized controlled trials.


2008 ◽  
Vol 36 (4) ◽  
pp. 760-765 ◽  
Author(s):  
Christopher James Doig ◽  
David A. Zygun

“I think there’s a big strong belief in [...] the community … and maybe it’s in the world at large that somehow the doctors are more concerned about harvesting the organs than what’s best for the patient.”1 In the past 45 years, organ and tissue recovery and transplantation have moved from the occasional and experimental to a standard of care for end-stage organ failure; receiving an organ transplant is for many the only opportunity for increased quantity and/or quality of life. The increasing prevalence of diseases such as viral hepatitis, diabetes, and hypertension has significantly increased the incidence of end-organ failure. Additionally, surgical advances have permitted less stringent qualification criteria, so that people of advanced age or patients who may be in a physiologically fragile state are now eligible to be organ recipients. These changes have created a significant demand for organs.


2018 ◽  
Vol 29 (4) ◽  
pp. 226-234 ◽  
Author(s):  
Rita Doumit ◽  
Chant Kazandjian ◽  
Lisa K. Militello

Lebanon has the highest per-capita concentration of refugees worldwide. There is an urgent need to offer psychosocial interventions to vulnerable groups such as Syrian refugee adolescents. To assess the feasibility, acceptability, and preliminary effects of a cognitive–behavioral intervention (Creating Opportunities for Patient Empowerment [COPE]) on depression, anxiety, and quality of life (QOL) in a sample of adolescent refugees (13-17 years) living in Lebanon. A preexperimental study design was used. COPE 7-Session was delivered to 31 adolescent Syrian refugees. Participants were assessed for depression (Personal Health Questionnaire–9), anxiety (General Anxiety Disorders Scale), and QOL (Pediatric Quality of Life Inventory). Feasibility and acceptability findings indicated that the COPE program was a positive experience for teens. Significant decreases in depression and anxiety, and increases in QOL were also reported. COPE is an effective cognitive–behavioral intervention that can be delivered in an Arabic/Middle-Eastern setting for teen refugees to improve mental health and QOL.


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