Severe Functional Limitations Research Articles

Quality of Life in Patients with Chronic Low Back Pain and Differences by Sex: A Longitudinal Study.

The experience of chronic low back pain has a significant impact on the quality of life of affected people, resulting in difficulties in performing basic activities of daily living. To study the perceived quality of life of people affected by chronic low back pain and the associated factors by sex. A prospective, longitudinal and observational design was used. A total of 129 people (58.1% women) with chronic low back pain were studied. The mean pain intensity scores were of moderate severity (6.42 points), with a modest improvement at follow-up (6.17 points). Epidural nerve blocks were the most effective therapeutic intervention in reducing the intensity of pain. Participants described a negative perception of their health with regard to quality of life, with low scores for the two constructs both at baseline (health index, 0.444; perception of health, 38.76 points) and at follow-up (health index, 0.447; perception of health, 40.43 points). Participants had severe functional limitation scores (50.79 points). The results were significantly better among men. There was an inverse relationship between the average pain intensity (β = -0.304; p < 0.001), functional limitation (β = -0.466; p < 0.001) and mental health (β = -0.565; p < 0.001) and quality of life. The chronification of low back pain complicates people's biopsychosocial adaptation to life. There is a longitudinal inverse association between pain and functional limitation and health-related quality of life.

Trends in severe functional limitations among working and non-working adults in Germany: Towards an (un)-healthy working life?

We examined trends in severe functional limitations among working and non-working adults in Germany (ages 40–65). Four population-based samples of 11,615 participants were used, spanning the time periods 2002–2021. The overall prevalence of severe limitations was found to be 12.8% in the sample, but also varied from 10 to 20% according to occupational group. Over time, severe limitations were found to have increased, from 10.6% in 2002 to 13.2% in 2021. Logistic regression analysis showed that severe limitations increased significantly in certain subgroups, including working women with a low skilled white collar occupational group, working men with a low skilled blue collar occupational group and, particularly, among the whole non-working population, whereas limitations remained largely the same in the other groups, including most of the working population. In terms of expectancies, overall working life expectancy increased. Along with this increase, healthy (non-severely limited) working life expectancy increased, but this trend was accompanied by a clear increase in unhealthy working life expectancy (severely limited). Thus, although severe limitations have increased in some groups in the working-age adults, people today can expect to work more years free from severe limitations than before. In the future, potentials to increase working life expectancy may come to an end, as severe limitations increased strongly in the non-working population, which could limit the prospects for a further increase in the proportion of the population in employment. Further studies are needed to investigate the potential impact of the increasing prevalence of severe limitations on the population’s ability to work.

Association of COVID-19 symptoms and functional status of the COVID-19 survivors in a tertiary health care center in a developing country

Background The COVID-19 pandemic has affected people globally, causing widespread illness and functional limitations. Methods This cross-sectional study aimed to investigate the association between COVID-19 symptoms and the functional status of COVID-19 survivors at Bangabandhu Sheikh Mujib Medical University (BSMMU) in Bangladesh. A total of 244 COVID-19 survivors were enrolled in the study, and their symptoms and functional status were assessed using standardized questionnaires. The post-COVID-19 functional status scale (PCFS) was used to assess the entire range of functional outcomes. Results Among the participants 57.4% were male and 42.6% were female. The mean (SD) age of the patients was 44.6 ±14.7 years where 37.7% were from the 20-35 years age group. The mean duration of suffering from COVID-19 was 15.9 ±6.1 days where 61.5 % of the patients had a duration of suffering of 11-20 days. Out of the 244 patients, 40 patients had no functional limitation (grade 0 functional status in the PCFS scale) while 100 had negligible functional limitation and 14 had severe functional limitation. We found patients who were suffering from multi-symptoms were statistically significant with PCFS scale grade 4, whereas grade 1 was found to be statistically significant with only respiratory distress. There was a significant association between the duration of COVID-19 symptoms and post-COVID-19 functional status for patients who experienced symptoms for 14 days or more (p&lt;0.05). Conclusions Considering the negative impact of COVID-19 symptoms on functional status, comprehensive care and support are required for COVID-19 survivors.

Wie hat sich die Lebenserwartung ohne funktionelle Einschränkungen in Deutschland entwickelt? Eine Analyse mit Daten des Deutschen Alterssurveys (DEAS)

ZusammenfassungEinleitungDer langfristige Anstieg der Lebenserwartung wirft die Frage auf, ob die gewonnene Lebenszeit mit einer Verlängerung der Jahre ohne gesundheitliche Einschränkungen einhergeht. Die Studie untersucht, wie sich die Lebenserwartung ohne funktionelle und Mobilitätseinschränkungen ab dem Alter 46 und 65 Jahre sowie ihre Anteile an der Restlebenserwartung seit 2008 verändert haben.MethodenWir analysieren Daten des Deutschen Alterssurveys der Wellen 2008, 2014 und 2020/2021. Die Lebenserwartung ohne funktionelle Einschränkungen (Disability Free Life Expectancy – DFLE) wurde mit der Sullivan-Methode berechnet. Untersucht wurden starke funktionelle Einschränkungen mit dem „Global Activity Limitation Indicator“ (GALI) und Einschränkungen der Mobilität (Treppensteigen, mehr als 1 km Gehen).ErgebnisseKompression der Morbidität beim GALI ist bei 46- und 65-jährigen Männern seit 2014 zu beobachten, bei gleichaltrigen Frauen dagegen nicht. Bei der Mobilität zeigen 46- und 65-jährige Männer Tendenzen zur Kompression beim Treppensteigen und 46-jährige Männer beim Gehen von mehr als 1 km seit 2014. Die Werte für Frauen stagnieren für die beiden erstgenannten Indikatoren, aber nicht für 46-jährige Frauen beim Gehen von mehr als 1 km seit 2014.DiskussionUnsere Analysen zeigen je nach Indikator, Alter und Geschlecht unterschiedliche Trends der DFLE und lassen keine eindeutige Antwort auf die Frage nach Morbiditätskompression oder -expansion zu. Kompression der Morbidität sehen wir eher bei Männern, Tendenzen der Stagnation oder Expansion dagegen eher bei Frauen. Diese Resultate signalisieren Herausforderungen in der Erhaltung der funktionellen Gesundheit vor allem bei Frauen und weisen auf die Notwendigkeit gezielter Interventionen hin, um die Lebensqualität und die gesunde Lebenserwartung zu verbessern.

Functional outcome of total hip replacement in acetabular fractures

Introduction. Total hip replacement (THR) has revolutionized the management of various hip pathologies, including acetabular fractures, which pose significant challenges due to their complex nature and debilitating effects. Acetabular fractures, resulting from high-energy trauma, present with severe pain and functional limitations, constituting a small percentage of all fractures worldwide. While THR offers promising outcomes, variability exists in functional improvement rates and postoperative complications. Aim. This prospective observational study aims to estimate the functional outcomes and complications associated with THR in patients following acetabular fractures, with a focus on guiding clinical practice and optimizing patient care. Methodology. The study included 30 patients undergoing THR after acetabular fractures or post-primary acetabular fixation. Surgical techniques involved the Kocher-Langenbeck approach and meticulous fracture management strategies. Clinical evaluation utilized the Harris Hip Score, while radiographic assessments monitored component positioning, stability, and osteolysis. Postoperative care included pain management and rehabilitation protocols. Results. The majority of patients presented with segmental defects, with intraoperative bone grafting required in 87% of cases. Significant improvements in Harris Hip scores were observed postoperatively, indicating favorable functional outcomes. A majority of patients experienced good to excellent recovery, although postoperative complications such as pain, limping, and heterotrophic ossification were noted in some cases. Radiographic evaluations revealed satisfactory component positioning and long-term survival rates. Conclusion. These findings support the role of THR in restoring functionality and improving the quality of life for affected individuals. Continued advancements and research efforts are crucial to further optimize outcomes in this challenging patient population.

Risk of sarcopenia and mobility of older adults during the COVID-19 pandemic: the longitudinal data from the REMOBILIZE study

BackgroundWe assessed whether clinical, functional and behavioral factors were associated with the decrease in mobility trajectories reported in older people at risk of sarcopenia (RS) and without risk of sarcopenia (NRS) during COVID-19 pandemic.MethodsWe prospectively analyzed mobility trajectories reported in older adults with RS and NRS over 16-month follow-up (Remobilize study). The self-perceived risk of sarcopenia and mobility were assessed using the SARC-F and the Life-Space Assessment (LSA) tools, respectively. Gender, age, comorbidities, pain, functional limitation, physical activity (time spent in walking; min/week), and sitting time (ST; hours/day) were assessed. We used a multilevel model to determine changes in mobility between groups and over time.ResultsMobility was lower in RS than in NRS. Older people at RS, who were women, aged 70–79 years and 80 years or older, inactive, and with moderate to severe functional limitation experienced reduced mobility trajectories reported over the pandemic. For older people at NRS, trajectories with reduce mobility reported were experienced by women with comorbidities, for those with insufficient walking time and aged 70–79 years; aged 70–79 years and with ST between 5 and 7 hours/day; for those with insufficient walking time and increased ST; and for those with pain and increased ST.ConclusionMobility trajectories reported in older people at risk of sarcopenia were negatively influenced by insufficient level of physical inactivity and pre-existing moderate to severe functional limitation. Health and social interventions should be target to avoid mobility limitation during and after the COVID-19 pandemic.

Association of COVID-19 symptoms and functional status of the COVID-19 survivors in a tertiary health care center in a developing country

Background The COVID-19 pandemic has affected people globally, causing widespread illness and functional limitations. Methods This cross-sectional study aimed to investigate the association between COVID-19 symptoms and the functional status of COVID-19 survivors at Bangabandhu Sheikh Mujib Medical University (BSMMU) in Bangladesh. A total of 244 COVID-19 survivors were enrolled in the study, and their symptoms and functional status were assessed using standardized questionnaires. The post-COVID-19 functional status scale (PCFS) was used to assess the entire range of functional outcomes. Results Among the participants 57.4% were male and 42.6% were female. The mean (SD) age of the patients was 44.6 ±14.7 years where 37.7% were from the 20-35 years age group. The mean duration of suffering from COVID-19 was 15.9 ±6.1 days where 61.5 % of the patients had a duration of suffering of 11-20 days. Out of the 244 patients, 40 patients had no functional limitation (grade 0 functional status in the PCFS scale) while 100 had negligible functional limitation and 14 had severe functional limitation. We found patients who were suffering from multi-symptoms were statistically significant with PCFS scale grade 4, whereas grade 1 was found to be statistically significant with only respiratory distress. There was a significant association between the duration of COVID-19 symptoms and post-COVID-19 functional status for patients who experienced symptoms for 14 days or more (p&lt;0.05). Conclusions Considering the negative impact of COVID-19 symptoms on functional status, comprehensive care and support are required for COVID-19 survivors.

Real-world drug utilization and treatment patterns in patients with tenosynovial giant cell tumors in the USA.

Aim: Real-world treatment patterns in tenosynovial giant cell tumor (TGCT) patients remain unknown. Pexidartinib is the only US FDA-approved treatment for TGCT associated with severe morbidity or functional limitations and not amenable to improvement with surgery. Objective: To characterize drug utilization and treatment patterns in TGCT patients. Methods: In a retrospective observational study using IQVIA's linked prescription and medical claims databases (2018-2021), TGCT patients were stratified by their earliest systemic therapy claim (pexidartinib [N=82]or non-FDA-approved systemic therapy [N=263]). Results: TGCT patients treated with pexidartinib versus non-FDA-approved systemic therapies were predominantly female (61 vs 50.6%) and their median age was 47 and 54years, respectively. Pexidartinib-treated patients had the highest 12-month probability of remaining on treatment (54%); 34.1% of pexidartinib users had dose reduction after their first claim. Conclusion: This study provides new insights into the unmet need, utilization and treatment patterns of systemic therapies for the treatment of TGCT patients.

Effectiveness of longstanding exercise therapy compared with usual care for people with rheumatoid arthritis and severe functional limitations: a randomised controlled trial

ObjectivesTo compare the effectiveness of longstanding (>52 weeks), supervised exercise therapy with usual care in adults with rheumatoid arthritis (RA) and severe functional limitations.MethodsParticipants were randomised 1:1 to the intervention...

Interactions between special education teachers and children with chronic complex conditions: A qualitative study.

The number of children with complex medical conditions has increased in recent decades. In this context, a complex chronic condition is characterized by multiple morbidities that require intensive or continuous health care according to the level of severity. Given their various health conditions, it is challenging to provide special education to these children, but there is still insufficient evidence regarding the practical experiences of educators. The aim of this study was to investigate special education teacher's perceptions, experiences, and challenges while developing interpersonal relationships and communicating with children who have complex chronic conditions. We recruited and interviewed 21 special education school teachers in Japan. The transcripts of the interviews were analyzed using thematic analysis. Our analysis revealed four themes, including "searching for the meaning," "complex chronic conditions as a difficult reality," "widening experience for the future," and "priority for interacting with children." These themes reflect the perceptions, experiences, and challenges of the special education teachers. In cases where children have severe functional limitations, it is more challenging to understand child-teacher interactions. This highlights the importance of searching for meaning in educational practices used among children with complex chronic conditions. Our findings may provide helpful insight into the experiences and challenges faced by special educators who engage with these children.

Exploring the Effect of Compound Glycyrrhizin and Silybinin on the Metabolism of Pexidartinib in Rats Based on CYP3A4 and CYP2C9

Pexidartinib offered a new therapeutic option for adult patients with symptomatic tenosynovial giant cell tumor (TGCT) who were refractory to surgical treatment and had severe morbidity or functional limitations. Meanwhile, the metabolism of pexidartinib was mainly mediated through the oxidation of cytochrome P450 (CYP) 3A and glucuronidation by uridine glucuronosyltransferase (UGT) 1A4 and attention shall be paid to CYP450-based drug-drug interactions during therapeutic dosing. This study aimed to examine the changes in the pharmacokinetics of pexidartinib by silymarin and compound glycyrrhizin on pexidartinib in vivo in rats by high-performance liquid chromatography (HPLC)-UV approach and to detect its expression in CYP3A4 and CYP2C9 using the western blot. The findings of chromatography experiments revealed that silybinin as well as compound glycyrrhizin increased the exposure of pexidartinib in rats and had a significant inhibitory effect on the metabolism of pexidartinib. The results of immunoblotting assays suggested that silybinin as well as compound glycyrrhizin inhibited the protein expression of CYP3A4 and CYP2C9 in rats. Therefore, the combination of pexidartinib with silybinin and compound glycyrrhizin should be monitored to avoid clinical adverse effects.

Real-World Patient Experience of Pexidartinib for Tenosynovial Giant-Cell Tumor.

Pexidartinib (Turalio) is the only systemic therapy approved by the FDA for the treatment of adult patients with symptomatic tenosynovial giant-cell tumor (TGCT) associated with severe morbidity or functional limitations, and not amenable to improvement with surgery. This study assessed patient-reported treatment experiences and symptom improvement among patients receiving pexidartinib. A cross-sectional, web-based survey collected data on demographics, disease history, pexidartinib dosing, and symptoms before and after pexidartinib use. Of 288 patients enrolled in the Turalio REMS program in May 2021, 83 completed the survey: mean age was 44.2 years, 62.7% were female, and most common tumor sites were in knee (61%) and ankle (12%). Mean initial dose was 622 mg/day: 29 patients reported reduction from initial dose and 8 had dose reduction after titrating up to a higher dose. At the time of survey completion, median time on pexidartinib was 6.0 months; 22 (26.5%) patients discontinued pexidartinib due to physician suggestion, abnormal laboratory results, side effect, or symptom improvement. Compared with before pexidartinib initiation, most patients reported improvement in overall TGCT symptom (78.3%) and physical function (77.2%) during pexidartinib treatment. Significant improvement was reported during pexidartinib treatment in worst stiffness numeric rating scale (NRS) (3.0 vs. 6.2, P < .05) and worst pain NRS (2.7 vs. 5.7, P < .05). Findings from this cross-sectional survey confirmed the benefit of pexidartinib in improving symptoms and functional outcomes among patients with symptomatic TGCTs from the patients' perspective. Future research is warranted to examine the long-term benefit and risk of pexidartinib.

Subungual Glomus Tumor of the Hallux A Report of 4 Cases.

This study reports the clinical outcomes and evolution of 4 patients with subungual glomus tumor (GT) of the hallux treated with tumor excision. Preoperatively, all patients had pain of intensity 9 or 10. Three were sensitive to cold and had stabbing pain, and one reported pulsatile pain. No patient presented nail alterations. There were no bone alterations on radiographic images and diagnostic suspicion of GT was supported by magnetic resonance images. Surgical treatment was indicated due to severe pain and functional limitation. The GT excision was performed by removing the nail through an L-shaped incision in the nail bed. After surgery, they all showed clinical improvement with return to previous activities and had no difficulty in wearing regular shoes. Three patients were pain-free and one had occasional stabbing pain of intensity 2. Half of them had nail changes. There has been no recurrence so far. Thus, we found that resection of subungual GT of the hallux was effective for the clinical improvement of patients.Level of Evidence: IV, case reports.

Does informal care delay nursing home entry? Evidence from Dutch linked survey and administrative data

We assess whether informal care receipt affects the probability of transitioning to a nursing home. Available evidence derives from the US, where nursing home stays are often temporary. Exploiting linked survey and administrative data from the Netherlands, we use the gender mix of children to retrieve exogenous variation in informal care receipt. We find that informal care increases the chance of an admission within a three-year period for individuals with severe functional limitations, and increases the costs incurred on formal home care. For individuals with mild limitations, informal care substantially decreases total care costs, whereas its effect on nursing home admission is unclear. Further, informal care results in lower post-acute care use and hospital care costs, and does not increase mortality. Promoting informal care cannot be expected to systematically result in lower institutionalization rate and care costs, but it may nonetheless induce health benefits for its recipients.

Supporting patients in the transition to the revised pexidartinib dosing regimen: perspectives from the multidisciplinary clinical and allied health professional team

Pexidartinib is a colony-stimulating factor-1 receptor inhibitor approved in the United States for treatment of adult patients with symptomatic tenosynovial giant cell tumor (TGCT) associated with severe morbidity or functional limitations and not amenable to improvement with surgery. Because of the risk of severe and potentially fatal hepatotoxicity, pexidartinib is only available through a Risk Evaluation and Mitigation Strategy (REMS) program. Pexidartinib pharmacokinetics are influenced by the fat content of meals: compared with the fasted state, consuming a high-fat meal with pexidartinib increases pexidartinib absorption by 100%; a low-fat meal increases absorption by approximately 60%. Pexidartinib was initially authorized to be taken at 800 mg/day on an empty stomach; therefore, if this same dose of pexidartinib is taken with food, there is a risk of overexposure and potential toxicity. To reduce the risk of hepatotoxicity and improve patient compliance, pexidartinib has undergone a revised dosing regimen, from 800 mg/day (400 mg twice daily) fasted to 500 mg/day (250 mg twice daily) with a low-fat meal (approximately 11–14 g of total fat). The objective of this report is to educate clinical and allied health professionals on the revised dosing regimen and the importance of patient compliance with a low-fat meal. Healthcare professionals need to understand the rationale for the switch from pexidartinib dosing on an empty stomach to dosing with a low-fat meal and how meal composition and timing influence pharmacokinetics. Finally, we provide guidance for the healthcare team of prescribing providers, nurses, pharmacists, and dietitians who are caring for patients with TGCT on pexidartinib. It is important for healthcare providers to deliver consistent messaging on the low-fat meal requirement and help patients fit pexidartinib into their regular meal schedules. Consulting a dietitian may be helpful for patients, especially those with complex dietary needs. We provide an overview of the roles and responsibilities of each healthcare professional and outline steps to best support patients, including key questions and answers related to the revised dosing regimen. This report provides the information necessary to guide the multidisciplinary team caring for patients with TGCT and to support them through the pexidartinib dosing regimen change.

One Step Double Augmentation with Human Dermis Allograft and Homologous PRP in Misdiagnosed and or Chronic Achilles Tendon Ruptures.

Misdiagnosed/chronic Achilles tendon injuries are rare and disabling for patients. The surgical treatment of these rare injuries aims to ensure the tendon heals mechanically and biologically. This is the prerequisite for a good clinical and functional outcome and reduces recurrences. The main aim of the study is to present a surgical technique that has proven to be original, reproducible, and capable of guaranteeing solid tendon repair and optimal tissue regeneration. We treated five patients, four males and one female, with the one-step double augmentation technique. All patients of this study complained of pain, but above all severe functional limitation that Achilles tendon injury had been causing for more than a month. In this study, we widely described the surgical technique, original and not found in the literature, which provides a biological graft (allograft of decellularized dermis) and homologous, thrombin-activated, platelet-rich plasma (H-PRP) in a single step. Surgical approach, always used by the first author, respected predefined steps: careful dissection and preparation of the peritendinous tissues from suture to the end of the procedure, tenorrhaphy, and augmentation with allopatch to obtain a mechanically effective repair to avoid recurrences, and finally "biological" augmentation with a unit of homologous, thrombin activated, PRP. We offered to all patients a regenerative rehabilitation program post-operatively. All patients were evaluated clinically (functional clinical tests and questionnaires) and instrumentally (elastic-sonography and perfusion MRI). The obtained results have been evaluated at a minimum follow-up of 18 months and a maximum of 24 months. In all patients pain was resolved, and district function and kinetic chains improved with resumption of daily activities, work, and sports. The present study confirmed the regenerative potential of decellularized dermis allograft and PRP (homologous and thrombin-activated). The same approach can also be exploited in cases of severe tendon destructuring and limited "intrinsic" regenerative potential at any age. The proposed one-step surgical technique of a double augmentation therefore appears useful, safe, reproducible, and applicable in all chronic tendon lesions with low regenerative potential.

Role of self-efficacy on functional limitations among persons with spinal cord injury.

Spinal cord injury (SCI) results in mild to severe functional limitations, decreasing a person's ability to perform activities of daily living. This study aims to identify the influence of SCI characteristics and self-efficacy on functional limitations, controlling for sociodemographic factors. Participants for this cross-sectional descriptive study included 272 persons with SCI. The participants completed questionnaires on sociodemographic information, secondary physical conditions, self-efficacy, and functional limitations, using an online Qualtrics Survey. Multiple hierarchical regression analysis was performed to test the hypothesis. Participants reported higher functional limitations on dressing the lower body and managing their bowels compared to other activities of daily living. The sociodemographics, injury characteristics, and self-efficacy collectively accounted for 66% variance in functional limitations. A higher level of secondary physical conditions and tetraplegia injury contributed to higher functional limitations. As hypothesized, greater self-efficacy significantly contributed to low functional limitations above and beyond sociodemographic and SCI-related variables. Functional limitations following SCI are a pervasive challange in persons with SCI. Early recognition and management of secondary conditions and implementation of psychological interventions to strengthen self-efficacy in performing activities and managing secondary complications could potentially enhance functional independence and, ultimately, quality of life in this population.

Transcatheter Edge-to-Edge Repair in 5,000 Patients With Secondary Mitral Regurgitation: COAPT Post-Approval Study

BackgroundReal-world applicability of the COAPT (Cardiovascular Outcomes Assessment of the MitraClip Percutaneous Therapy for Heart Failure Patients with Functional Mitral Regurgitation) randomized controlled trial (RCT) has been debated because of careful patient selection and the contrasting results of the MITRA-FR (Multicentre Study of Percutaneous Mitral Valve Repair MitraClip Device in Patients with Severe Secondary Mitral Regurgitation) RCT. ObjectivesThe COAPT-PAS (COAPT Post-Approval Study) was initiated to assess the safety and effectiveness of the MitraClip in patients with secondary mitral regurgitation (SMR). MethodsCOAPT-PAS is a prospective, single-arm, observational study of 5,000 consecutive patients with SMR treated with the MitraClip at 406 U.S. centers participating in the TVT (Transcatheter Valve Therapy) registry from 2019 to 2020. The 1-year outcomes from the COAPT-PAS full cohort and the COAPT-like and MITRA-FR–like subgroups who met RCT inclusion/exclusion criteria are reported. ResultsPatients in the COAPT-PAS had more comorbidities, more severe HF and functional limitations, and less guideline-directed medical therapy than those in the COAPT or MITRA-FR RCTs. Patients in the COAPT-PAS full cohort and the COAPT-like (n = 991) and MITRA-FR–like (n = 917) subgroups achieved a 97.7% MitraClip implant rate, a similar and durable reduction of mitral regurgitation to ≤2+ at 1 year (90.7%, 89.7%, and 86.6%, respectively), a large improvement in quality of life at 1 year (Kansas City Cardiomyopathy Questionnaire +29 COAPT-PAS, +27 COAPT-like, and +33 MITRA-FR–like), faster procedure times, similar or lower clinical event rates compared with the RCTs’ MitraClip arms, and lower clinical event rates than the RCTs’ guideline-directed medical therapy only arms. One-year heart failure hospitalizations was 18.9% in COAPT-PAS, 19.7% in COAPT-like compared with 24.9% in COAPT-RCT, and 28.7% in COAPT-PAS-MITRA-FR–like compared with 47.4% in MITRA-FR-RCT. ConclusionsThis large, contemporary, real-world study reinforces the safety and effectiveness of the MitraClip System in patients with SMR, including those who met the COAPT or MITRA-FR RCT inclusion/exclusion criteria and patients excluded from the RCTs.

Genetic counselling and gene analysis in patients with hereditary ocular diseases

Purpose. Non-syndromic hereditary ocular diseases can lead to severe functional limitations of vision at all ages. Therefore, molecular genetic research into the causes of hereditary ocular diseases is of paramount importance. Due to the increasingly optimised pathophysiologically adapted treatments and gene therapy options, a rapid determination of the genetic cause of hereditary ocular diseases is neces- sary, also to increase the chances of treatment at early stages of the disease. In this context, the authors retrospectively analysed the database of the “rare diseases” consultation hour of the PraxisKlinik Augenärzte Halle, which has been in existence since 2016, for patients with a suspected hereditary ophthalmological disease after molecular genetic diagnostics, counselling and therapy options. Material and Methods. 367 index patients were treated dur- ing the period under consideration. In 221 (60.2 %) of them, the molecular genetic cause of the underlying disease could be found. In addition to a large group of patients with cor- neal dystrophies (304 patients, detection rate 61.2 %), we treated 23 index patients with hereditary retinal diseases (detection rate 69.6 %), 28 index patients with complex mal- formations (detection rate 50 %) and 15 index patients with optic atrophies (detection rate 33.4 %). In addition to the ophthalmological-clinical examination and diagnostics, ge- nealogical analysis and molecular genetic testing were always performed. Results. On the basis of 3 case studies with a molecularly ge- netically proven hereditary retinal disease (X-linked recessive inherited juvenile retinoschisis, hemizygous missense muta- tion in the RS1 gene; enhanced S-Cone syndrome, compound heterozygous mutation in the RS2E3 gene; oculocutaneous albinism, homozygous mutation in the TYR gene), the inher- itance, the clinical picture, the course and the therapeutic and rehabilitative options were explained. Conclusion. Ophthalmogenetic counselling and diagnostics in cases of suspected hereditary eye diseases are crucial for a prompt and a sufficient possible therapy and optical reha- bilitation in affected families. Thorough history analysis and diagnostics can optimise the detection rate and provide rapid and sufficient patient care. Keywords hereditary retinal disease, homozygous mutation, ophthal- mogenetics, juvenile retinischisis, oculocutaneous albinism

Docetaxal induced scleroderma like disease

Scleroderma like skin disease is a rare entity among the drug induced dermatological manifestations. It is attributed to various drugs and recently to certain oncological medications especially taxanes. Despite being an efficacious chemotherapeutic agent, it results in scleroderma like skin lesions rarely it resolves in some patients if detected early with omission of the culprit drug with or without steroids. Despite its rarity in literature untreated cases develop severe functional limitation due to skin fibrosis. After an exploration of literature search herein we report the first case of docetaxal induced scleroderma in a Sri Lankan which was detected and promptly treated with steroids successfully. We report this case to make clinicians aware about this condition when encountered with a patient having skin fibrosis with background history of chemotherapy, the possibility of a drug induced scleroderma.