Natural history of Charcot–Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life

Introduction. Patients with spondylocostal dysostosis (SCD) have congenital spine and rib deformities associated with frequently severe thoracic insufficiency and respiratory compromise. The literature is largely composed of case reports and small cohorts, and there is little information regarding adults with this condition. In this report, we describe the natural history of a conservatively treated patient and include quality-of-life issues such as childbearing, athletic participation, and occupational selection. Case Presentation. We present a patient with SCD who was conservatively treated by a single physician from birth for 31 years. Our patient was capable of a reasonably good quality of life through adulthood, including participation in gymnastics and employment. At age 18, she became pregnant and subsequently terminated the pregnancy due to obstetrical concerns for compromised respiration. She has had intermittent respiratory complaints and occasionally experiences dyspnea with exertion, but this only has limited her during certain activities in the past three years. Currently, she takes naproxen for chronic back pain with periodic exacerbations. Discussion. Other cases in the literature have described adult SCD patients who have received nonoperative treatment and achieved a wide range of functional outcomes. This provides some limited evidence to suggest that select patients with SCD may be treated conservatively and achieve a reasonable quality of life. However, close clinical follow-up with these patients is recommended, particularly early on, considering the high rates of infant morbidity and mortality. Chest physiotherapy and early pulmonary care have been associated with favorable outcomes in infancy. Surgery to increase thoracic volume and correct scoliosis has been shown in some cases to improve respiratory function. Treatment depends on the degree of thoracic insufficiency and quality of life. The natural history of SCD remains largely unknown, but some patients are capable of relatively favorable life spans, employment, and participation in athletics.

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The effectiveness of high-intensity laser therapy on pain, range of motion, functional capacity, quality of life, and muscle strength in subacromial impingement syndrome: a 3-month follow-up, double-blinded, randomized, placebo-controlled trial

Lasers in Medical Science ◽

10.1007/s10103-020-03224-7 ◽

2021 ◽

Author(s):

Muhammed Yılmaz ◽

Selma Eroglu ◽

Umit Dundar ◽

Hasan Toktas

Keyword(s):

Quality Of Life ◽

Muscle Strength ◽

Controlled Trial ◽

Subacromial Impingement Syndrome ◽

Subacromial Impingement ◽

High Intensity Laser ◽

Double Blinded ◽

Intensity Laser

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Improving the understanding of how patients with non-dystrophic myotonia are selected for myotonia treatment with mexiletine (NaMuscla): outcomes of treatment impact using a European Delphi panel

BMC Neurology ◽

10.1186/s12883-021-02491-3 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Ann-Marie Chapman ◽

Marieke Schurer ◽

Laure Weijers ◽

Amer Omar ◽

Hiba Lee ◽

...

Keyword(s):

Quality Of Life ◽

Natural History ◽

Negative Impact ◽

Phase Iii ◽

Future Research ◽

Delphi Panel ◽

Economic Modelling ◽

Patient Access ◽

History Of

Abstract Background Non-dystrophic myotonias (NDMs) comprise muscle chloride and sodium channelopathies due to genetic defects of the CLCN1- and SCN4A-channels. No licensed antimyotonic treatment has been available until approval of mexiletine (NaMuscla®) for adult patients by the EMA in December 2018. This Delphi panel aimed to understand how outcomes of the pivotal phase III Mexiletine study (MYOMEX) translate to real world practice and investigate health resource use, quality of life and the natural history of NDM to support economic modelling and facilitate patient access. Methods Nine clinical experts in treating NDM took part in a two-round Delphi panel. Their knowledge of NDM and previous use of mexiletine as an off-label treatment prior to NaMuscla’s approval ensured they could provide both qualitative context and quantitative estimates to support economic modelling comparing mexiletine (NaMuscla) to best supportive care. Consensus in four key areas was sought: healthcare resource utilization (HRU), treatment with mexiletine (NaMuscla), patient quality of life (QoL), and the natural history of disease. Concept questions were also asked, considering perceptions on the feasibility of mapping the validated Individualized Neuromuscular Quality of Life (INQoL) instrument to the generic EQ-5D™, and the potential impact on caregiver QoL. Results Consensus was achieved for key questions including the average long-term dosage of mexiletine (NaMuscla) in practice, the criteria for eligibility of myotonia treatment, the clinical importance of QoL outcomes in MYOMEX, the higher proportion of patients with increased QoL, and the reduction in the need for mental health resources for patients receiving mexiletine (NaMuscla). While consensus was not achieved for other questions, the results demonstrated that most experts felt mexiletine (NaMuscla) reduced the need for HRU and was expected to improve QoL. The QoL mapping exercise suggested that it is feasible to map domains of INQoL to EQ-5D. Points of interest for future research were identified, including that mexiletine (NaMuscla) may slow the annual decrease in QoL of patients over their lifetime, and a significant negative impact on QoL for some caregivers. Conclusions This project successfully provided data from an informed group of clinical experts, complementing the currently available clinical trial data for mexiletine (NaMuscla) to support patient access decisions.

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HOSPITAL DISCHARGE PLACEMENT AND 3-MONTH FOLLOW-UP OF MUSCLE STRENGTH AND QUALITY OF LIFE OF 100 SURVIVORS OF ACUTE RESPIRATORY DISTRESS SYNDROME/ACUTE LUNG INJURY.

Cardiopulmonary Physical Therapy Journal ◽

10.1097/01823246-200418040-00010 ◽

2004 ◽

Vol 18 (4) ◽

pp. 23

Author(s):

Archana Vatwani ◽

Victor Dinglas ◽

Kimberly Benson ◽

Jennifer Parry ◽

Janette Scardillo ◽

...

Keyword(s):

Quality Of Life ◽

Acute Respiratory Distress Syndrome ◽

Acute Lung Injury ◽

Muscle Strength ◽

Lung Injury ◽

Respiratory Distress Syndrome ◽

Respiratory Distress ◽

Distress Syndrome

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Cardioversion and subsequent quality of life and natural history of atrial fibrillation

American Heart Journal ◽

10.1016/j.ahj.2016.10.018 ◽

2017 ◽

Vol 185 ◽

pp. 59-66 ◽

Cited By ~ 6

Author(s):

Sean D. Pokorney ◽

Sunghee Kim ◽

Laine Thomas ◽

Gregg C. Fonarow ◽

Peter R. Kowey ◽

...

Keyword(s):

Quality Of Life ◽

Atrial Fibrillation ◽

Natural History ◽

History Of

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Effects of Combined Endurance and Resistance Training in Women With Multiple Sclerosis: A Randomized Controlled Study

Frontiers in Neurology ◽

10.3389/fneur.2021.698460 ◽

2021 ◽

Vol 12 ◽

Author(s):

Luca Correale ◽

Cosme Franklim Buzzachera ◽

Giulia Liberali ◽

Erwan Codrons ◽

Giulia Mallucci ◽

...

Keyword(s):

Quality Of Life ◽

Muscle Strength ◽

Well Being ◽

Controlled Study ◽

Intervention Period ◽

Maximal Voluntary Isometric Contraction ◽

Leg Extension ◽

Before And After

Purpose: To test the hypothesis that combined resistance and endurance training would improve muscle strength, fatigue, depression, and quality of life in persons with MS.Methods: Twenty-seven women with MS were randomly assigned to either control (CON, n = 13) or the experimental (EXP, n = 14) group. The participants in the EXP group trained twice a week for 12 weeks, followed by 12 weeks of detraining. Both CON and EXP groups were tested before and after 12 weeks of the intervention period, as well as 12 weeks after training cessation (follow-up), where measures of muscle strength, fatigue, depression, and quality of life were evaluated.Results: There were significant changes in maximal voluntary isometric contraction (MVIC), 1RM leg extension, and 1RM chest press following the intervention period in the EXP group (P < 0.05), but not in the CON group (P > 0.05). These changes persisted after 12 weeks of detraining. Similar findings were found for fatigue, depression, and physical and mental composites of quality of life.Conclusion: These results suggest that combined exercise training, at a minimum, prevents the disease-related deterioration of muscular performance and quality of life and well-being in persons with MS.

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Tucked and treated- a case series on outcome of meshplasty with abdominoplasty for incisional hernia

International Surgery Journal ◽

10.18203/2349-2902.isj20214383 ◽

2021 ◽

Vol 8 (11) ◽

pp. 3421

Author(s):

Nagamallesh C. S. ◽

Nandini S. Tanwar ◽

F. Sadiq Nawaz ◽

Padmanath Bhat

Keyword(s):

Quality Of Life ◽

Incisional Hernia ◽

Previous History ◽

Case Series ◽

Weight Lifting ◽

Aesthetic Outcome ◽

Strict Glycemic Control ◽

History Of

Incisional hernia is the second most common type of hernia. Incisional hernia occurs in 10-20% of patients who were subjected to abdominal surgery in India. Here we are presenting a case series of 20 patients with incisional hernia and obesity. Body mass index (BMI) ranges from 28 to 35 in all cases. Females outnumbered the male in the ratio of 4:1 and 40% of cases had a previous history of caesarean section. All cases were operated by combining open polypropylene meshplasty and abdominoplasty techniques and follow up consultations were done for 1 year. 10% of cases had post-op wound infections, who were known to be diabetic. They were managed with appropriate antibiotics and maintained strict glycemic control. 90% of patients were satisfied from the procedure performed which improved their quality of life, significant cosmetic outcome and no recurrence. 10% of cases had recurrence after heavy weight lifting following surgery (BMI was 36). By incorporating the above mentioned techniques in hernia repair, recurrence rate and complications were reduced, quality of life and aesthetic outcome are enhanced.

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