Home-Based Rehabilitation With Frenkel’s Exercises for Adrenomyeloneuropathy: A Case Report

Introduction: Adrenoleukodystrophy (ALD) is an X-linked genetic progressive disease affecting the nervous system, the adrenal cortex and the testicles. It is caused by a mutation in ABCD1 (ATP- bind­ing cassette transporter) gene that encodes a protein, responsible for the transportation of very long chain fatty acids (VLCFAs) into the peroxisomes, where they are disposed into the process of beta-oxidation. The defective gene impairs the peroxisomal fatty acid degradation, which results in accu­mulation of VLCFAs in the body`s tissue. ALD is a heterogeneous disorder, which clinically presents with several distinct phenotypes, which differ in the onset of the disease, the manifestation and the severity of symptoms. As this is an X-linked disorder, it affects mainly men, whereas women experi­ence milder symptoms. Methods and materials: The case report describes a 38-years old male with a history of Addison`s dis­ease for which he is prescribed with hormone replacement therapy. He was admitted to the neurolog­ical clinic with complaints of stiffness in the cervical region and lower extremities, causing stagger­ing, difficulties in walking and disrupted sleep. The symptoms have deteriorated severely throughout the years, demonstrating the neurodegenerative character of ALD. Results: Computed Tomography reveals atrophic changes in the myelon, distal of Th1 (thoracic verte­brae) reducing the transversal size up to 4.5mm. On Electromyelography there is evidence for a demy­elinating polyneuropathy of the lower extremities and anterior root damage. The genealogic exam­ination - taking into consideration the clinical and genealogical data for peroxisomal assembly dis­ease, concludes the patient has ALD. A course of physiotherapy combined with corticosteroids is well-tolerated and the patient`s neurologic status has improved. Conclusion: ALD is considered a rare condition but its rapid progression, especially in the juvenile forms, can result in a vegetative state and paraparesis. Thus, clarifying the diagnosis in early stages, has a crucial role in the disease`s progression and manifestation.

Objective: To review and summarize available evidence to compare the outcomes of home-based rehabilitation to inpatient rehabilitation for older patients with musculoskeletal conditions. Data sources: Relevant articles published prior to August 2011 were identified using MEDLINE, CINAHL and the Cochrane Central Register of Controlled Trials databases. Review methods: English-language articles that compared patient outcomes of home-based and inpatient rehabilitation for older adults were included. Outpatient care was not included as home-based or inpatient rehabilitation. Methodological quality of included studies was evaluated by two reviewers using the PEDro scale. Results: A systematic search yielded eight randomized controlled trials and four cohort studies. Older adults who received rehabilitation in the home had equal or higher gains than the inpatient group in function, cognition, and quality of life; they also reported higher satisfaction. Conclusion: Home-based rehabilitation may be an effective alternative for treating older patients with musculoskeletal conditions.

Objective: To evaluate if home-based rehabilitation of inpatients improved outcome compared to standard care. Design: Interventional, randomised, safety/efficacy open-label trial. Setting: University hospital stroke unit in collaboration with three municipalities. Subjects: Seventy-one eligible stroke patients (41 women) with focal neurological deficits hospitalised in a stroke unit for more than three days and in need of rehabilitation. Interventions: Thirty-eight patients were randomised to home-based rehabilitation during hospitalization and for up to four weeks after discharge to replace part of usual treatment and rehabilitation services. Thirty-three control patients received treatment and rehabilitation following usual guidelines for the treatment of stroke patients. Main measures: Ninety days post-stroke the modified Rankin Scale score was the primary endpoint. Other outcome measures were the modified Barthel-100 Index, Motor Assessment Scale, CT-50 Cognitive Test, EuroQol-5D™, Body Mass Index and treatment-associated economy. Results: Thirty-one intervention and 30 control patients completed the study. Patients in the intervention group achieved better modified Rankin Scale score (Intervention median = 2, IQR = 2-3; Control median = 3, IQR = 2–4; P=0.04). EuroQol-5D™ quality of life median scores were improved in intervention patients (Intervention median = 0.77, IQR = 0.66–0.79; Control median = 0.66, IQR = 0.56 – 0.72; P=0.03). The total amount of home-based training in minutes highly correlated with mRS, Barthel, Motor Assessment Scale and EuroQol-5D™ scores (P-values ranging from P<0.00001 to P=0.01). Economical estimations of intervention costs were lower than total costs of standard treatment. Conclusion: Early home-based rehabilitation reduced disability and increased quality of life. Compared to standard care, home-based stroke rehabilitation was more cost-effective.

BackgroundPulmonary rehabilitation is a cornerstone of care for COPD but uptake of traditional centre-based programmes is poor. We assessed whether home-based pulmonary rehabilitation, delivered using minimal resources, had equivalent outcomes...

Introduction: Type 1 diabetes is a chronic autoimmune disease characterized by the partial or complete destruction of the insulin-producing pancreatic beta cells. This study aimed to investigate and analyze the impact of peripheral neuropathy (PN) on the quality of life of patients with diabetes. Methods: This descriptive-analytical study was conducted on patients with type 1 diabetes from March 21, 2022. The patients were divided into two groups: those with PN and those without it. The presence or absence of PN was identified using the Michigan Neuropathy Screening Instrument (MNSI), and the quality of life was assessed by the WHOQOL-BREF questionnaire. Data analysis was conducted using SPSS version 26.0. Of the Kolmogorov-Smirnov (K-S), independent t, Mann-Whitney, and one-way ANOVA tests were applied. A statistically significant level lower than 0.05 was deemed significant. Results: The study involved 30 patients (16 males and 14 females) with a mean age of 14.57±4.51 years. The mean body mass index (BMI) of all patients was 21.88±3.98. The average age of patients with PN was 14.57 ± 4.35 years, while for those without PN were 14.56 ± 4.78 years. In addition, the mean white blood cell (WBC) count in patients with PN was higher at 7.87 ± 1.63 compared to those without PN at 7.31 ± 2.06. The average red blood cell (RBC) count in patients with PN (5.12 ± 0.15) was approximately similar to those without PN (5.13 ± 0.14). Lastly, the mean platelet (Plt) count in patients with PN (270.93 ± 95.71) was lower than in those without PN (325.81 ± 80). Fourteen patients (46.7%) displayed symptoms of PN, including 10 female patients (71.4%) and 4 male patients (28.6%). Additionally, 16 patients (53.3%) did not exhibit PN, including 4 female patients (25%) and 12 male patients (75%). The mean age of patients with PN was 14.57±4.35 years, and it was 14.56±4.78 years in patients without PN (P&gt;0.05). The mean HbA1c level in patients with PN was 5.84±0.30, and it was 5.95±0.48 in patients without it (P&gt;0.05). Overall, there were no significant differences in these blood parameters between the two groups. The mean score of quality of life in patients with PN was 91.86±15.2 and it was 98.19±15.63 in patients without PN. Additionally, men (97.38±13.23) had a higher mean score than women (92.79±17.79) (P=0.011). The mean score of the social relationships domain in patients with PN (10.43±2.10) was significantly lower compared to patients without PN (10.50±2.56). In terms of physical health, patients with PN had a lower score (24.50±3.23) than patients without PN (28.13±4.47) (P=0.018). Similarly, in terms of mental state, patients with PN had a lower mean score (21.17±3.79) compared to patients without PN (25.00±3.48) (P=0.02). Additionally, the Overall quality of life scale for patients with PN (5.79±1.63), was lower than patients without PN (7.44±1.86) (P=0.016). Conclusion: This study found that increased HbA1c levels did not influence the severity of neuropathy in patients. However, it was observed that the severity of neuropathy had an inverse effect on the quality of life. Furthermore, women had a lower quality of life compared to men.

Objective. The present study aimed to characterize the functional capacity, disease status, cardiorespiratory fitness and quality of life of a sample of patients with spinocerebellar ataxia (SCA). The associations between these measures were also investigated. Methods. Fourteen individuals with SCA were included. Cardiorespiratory fitness was assessed by cardiopulmonary exercise testing; functionality with the Berg Balance Scale and the Dynamic Gait Index; severity of ataxia with the Scale for the Assessment and Rating of Ataxia Score and the Brief Ataxia Rating Scale; and health-related quality of life measures with the Brazilian-Portuguese version of the 36-Item Short-Form Health Survey. Results. The severity of SCA was associated with poor physical conditioning, overall functionality and quality of life. Conclusion. The knowledge produced by this study is important to motivate health professionals to promote exercise prescription to SCA patients. This study may point the way to the development of evidence-based protocols to recover and/or maintain functional and exercise capacity as well as to provide knowledge for the prevention of functional losses related not only to the disease but also to inactivity.

Introduction: Adrenoleukodystrophy (ALD) is a disease characterized by the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and the Leydig cells in the testes. Clinically, ALD is a heterogeneous disorder, presenting with several distinct phenotypes, and no clear pattern of genotype-phenotype correlation. Case report: Patients S.A. 50 years old, in the third year of life was diagnosed with primary adrenal insufficiency. From the age of 45 he feels, headache, dizziness, bends to the right when walking, night incontinence of urine. Talking to himself, the last year goes to the cemetery every day, occasionally crying without control and remembrance. Condition with spinocerebellar ataxia and a left pyramidal defect with incontinence of urine and psychiatric problems required re-examination. In consultation with neurologist at the Department of Neurology, investigations have shown that patient is suffering from X-linked adrenoleukodystrophy with affected central and peripheral nervous system. Adrenoleukodystrophy (ALD) is caused by mutations in ABCD1, a gene located on the X chromosome that codes for ALD, a peroxisomal membrane transporter protein. The exact mechanism of the pathogenesis of the various forms of ALD is not known. it is a disorder of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex and the Leydig cells in the testes. Clinically, ALD is a heterogeneous disorder, presenting with several distinct phenotypes, and no clear pattern of genotype-phenotype correlation. As an X-linked disorder, ALD presents most commonly in males, however approximately 50% of heterozygote females show some symptoms later in life. Approximately two-thirds of ALD patients will present with the childhood cerebral form of the disease, which is the most severe form. It is characterized by normal development in early childhood, followed by rapid degeneration to a vegetative state. The other forms of ALD vary in terms of onset and clinical severity, ranging from adrenal insufficiency to progressive paraparesis in early adulthood (this form of the disease is typically known as adrenomyeloneuropathy). Conclusion: In our case hypocorticism was the first sign of X-linked adrenoleukodystrophy. In male patients with hypocorticism X-linked adrenoleukodystrophy should always be excluded as one of the possible causes of primary adrenal insufficiency.

Background:Exercise tolerance and cardiac output have a major impact on the quality of life (QOL) of patients experiencing heart failure (HF). Home-based cardiac rehabilitation can significantly improve not only exercise tolerance but also peak oxygen uptake ( peak), and the QOL in patients with HF. The aim of this prospective study was to evaluate the beneficial effects of home-based cardiac rehabilitation on the quality of medical care in patients with chronic HF.Methods:This study was a randomized prospective trial. HF patients with a left ventricular ejection fraction (LVEF) of less than 50% were included in this study. We randomly assigned patients to the control group (n = 18) and the interventional group (n = 19). Within the interventional group, we arranged individualized rehabilitation programs, including home-based cardiac rehabilitation, diet education, and management of daily activity over a 3-month period. Information such as general data, laboratory data, Cardiopulmonary Exercise Test (CPET) results, Six-minute Walk Test (6MWT) results, and the scores for the Minnesota Living with Heart Failure Questionnaire (MLHFQ) before and after the intervention, was collected from all patients in this study.Results:Patients enrolled in the home-based cardiac rehabilitation programs displayed statistically significant improvement in peak (18.2 ± 4.1 vs 20.9 ± 6.6 mL/kg/min, P = .02), maximal 6-Minute Walking Distance (6MWD) (421 ± 90 vs 462 ± 74 m, P = .03), anaerobic threshold (12.4 ± 2.5 vs 13.4 ± 2.6 mL/kg/min, P = .005), and QOL. In summary, patients receiving home-based cardiac rehabilitation experienced a 14.2% increase in peak, a 37% increase in QOL score, and an improvement of 41 m on the 6MWD test. The 90-day readmission rate for patients reduced to 5% from 14% after receiving cardiac rehabilitation.Conclusion:Home-based cardiac rehabilitation offered the most improved results in functional capacity, QOL, and a reduced the rate of readmission within 90 days.

IntroductionIn recent years there have been many advances in ourunderstanding of the molecular pathogenesis of both congenitaland acquired adrenocortical failure (autoimmune or otherwise).As well as providing some fascinating insights into adrenalgland development and steroid hormone biosynthesis, therecognition of these various distinct disorders, either at aclinical or molecular genetic level, often has implications forthe management of the patient and their immediate family. In thispaper, we review the salient clinical and molecular features of thevarious causes of primary adrenocortical failure (Table 1).Genetics of autoimmune Addison’s diseaseAutoimmune Addison’s disease (AAD) is a chronic disorder ofthe adrenal gland, characterized by insufficiency of adrenocor-tical hormones due to autoimmune destruction of steroidogenicadrenocortical cells (Oelkers, 1996). The cytochrome P450enzymes involved in steroidogenesis, including 21-hydroxylase(Baumann-Antczak et al., 1992; Winqvist et al., 1992), 17-hydroxylase (Krohn et al., 1992) and side chain cleavageenzyme (Winqvist et al., 1993) have been identified as primaryautoantigens in AAD. With the overall decrease in theprevalence of tuberculosis, AAD has emerged as the mostcommon cause of primary adrenal failure in developedcountries (Nerup, 1974; Kong & Jeffcoate, 1994). Nevertheless,AAD is a relatively rare endocrinopathy; recent epidemiologi-cal studies showing an estimated prevalence in the generalEuropean population of about 100 per million (Kong J Laureti et al., 1999).The results of human leucocyte antigen (HLA) typing, takentogether with the clinical heterogeneity of presentation anddifferent modes of inheritance, have suggested distinctpathogenic bases for different forms of AAD. Thus, AADmay occur in isolation, as a manifestation of the autoimmunepolyendocrinopathy type 1 syndrome (APS1), or as part of theautoimmune polyendocrinopathy type 2 (APS2) syndrome(Table 1) (Spinner et al., 1968; Neufeld et al., 1981; Maclaren& Riley, 1986).Autoimmune polyendocrinopathy type 1 syndrome: amonogenic autoimmune disorderIn the autoimmune polyendocrinopathy type 1 (APS1)syndrome, which is also known as the autoimmune poly-endocrinopathy, candidiasis and ectodermal dystrophy(APECED) syndrome, AAD occurs in association withautoimmune hypoparathyroidism, chronic mucocutaneous can-didiasis and other organ-specific autoimmune disorders. Theseinclude type 1 diabetes, primary gonadal failure, perniciousanaemia, chronic active hepatitis and hypothyroidism (Neufeldet al., 1981; Ahonen et al., 1990). The age of onset of AAD inAPS1 is typically between 11 and 15years, although othermanifestations of APS1 (e.g. hypoparathyroidism and candi-diasis) are likely to present at an earlier age. APS1 is amonogenic disorder with autosomal recessive inheritance,affecting both sexes with equal prevalence (Ahonen, 1985),and is rare in most populations. However, because of foundereffects, it is relatively common in the Finnish population andIranian Jews with estimated prevalences of 1/25000 and 1/9000, respectively (Ahonen, 1985; Zlotogora & Shapiro, 1992).Initial genetic studies of APS1 focused on HLA, and noassociation of this disorder with any specific HLA haplotypehas been found (Neufeld et al., 1981; Maclaren & Riley, 1986;Aaltonen et al., 1993; Huang et al., 1996). The gene underlyingAPS1 was subsequently localized on chromosome 21q22 bylinkage analysis (Aaltonen et al., 1994) and identified bypositional cloning (Finnish-German APECED consortium,1997; Nagamine et al., 1997). This gene, designated auto-immune regulator-1 (AIRE-1), encodes a 545 amino acidprotein that has two plant homeodomain (PHD)-type zinc-finger motifs, suggesting a role as a transcription factor(Finnish-German APECED consortium, 1997; Nagamine etal., 1997). AIRE-1 mRNA is expressed in lymphoid tissuesincluding thymus, lymph node and spleen, and possibly also inother tissues including the adrenal cortex (Finnish-GermanAPECED consortium, 1997; Nagamine et al., 1997), whichsuggests that it may have an important role in the developmentof a normal immune response.

BackgroundChemotherapy-induced peripheral neuropathy (CIPN) is a common adverse effect of chemotherapy that affects the sensory, motor, and autonomic nerves. CIPN often leads to extremity dysfunction and reduced quality of life (QOL). Pharmacological therapies, such as duloxetine, have demonstrated efficacy in managing CIPN, and rehabilitation has emerged as a promising non-pharmacological treatment; however, the optimal exercise protocol remains unclear. Recent studies have suggested that home-based rehabilitation is feasible and safe for patients with cancer. This study aimed to evaluate the feasibility and safety of a 12-week hybrid intervention, combining outpatient supervision with home-based self-exercise in patients with CIPN.MethodsThis prospective observational study included 25 patients (17 women; mean age, 65.0 ± 9.3 years) with CIPN, 88% of whom had advanced or recurrent cancer. The intervention encompassed supervised outpatient rehabilitation sessions led by physical and occupational therapists and self-exercises at home. Primary outcomes included rehabilitation program completion and training adherence rates. Secondary outcomes included sensory nerve function, physical function, manual dexterity, QOL, and chemotherapy adherence. Descriptive statistics were used to summarize adherence rates. For the analysis of continuous variables, missing data were assumed to be missing at random and were handled using multiple imputation (MI), followed by generalized linear models (GLM). A total of 100 imputations were generated to ensure the stability and reliability of the estimates.ResultsThe study completion rate was 76.0%, with an 88% adherence rate for both supervised and self-exercise components. The MI-based analysis showed significant improvements in physical function from T1 to T3, as measured by the Cancer Functional Assessment Set (β = 6.65, 95% CI: 0.2–13.0, p < 0.05), whereas sensory nerve function, manual dexterity, and QOL remained unchanged. Chemotherapy adherence remained favorable throughout the program.ConclusionThe present study demonstrated the feasibility and safety of a combined outpatient-supervised and home-based exercise intervention for patients with CIPN. These findings highlight the practicability of incorporating an exercise regimen into a CIPN management protocol to support ongoing chemotherapy.Trial registrationThis study was retrospectively registered in the University Hospital Medical Information Network Clinical Trials Registry on 19/11/2024 (UMIN-CTR ID: UMIN 000056201).

Cardiac resynchronization therapy (CRT) for the treatment of heart failure (HF) raises complex problems for informed consent. CRT with and without defibrillator backup has been demonstrated in clinical trials to improve symptoms from HF and decrease mortality.1–4 A CRT pacemaker (CRT-P) may improve symptoms and reduce mortality in selected patients, even without offering the specific protection from malignant arrhythmias afforded by a CRT defibrillator (CRT-D). Further, CRT-P may prevent disease progression even in earlier stages of HF.4,5 Implantable cardioverter-defibrillators (ICDs) alone are effective in preventing sudden cardiac death (SCD) in selected patients.6,7 Although most patients eligible for CRT-P will similarly meet guidelines for an ICD, the decision to include ICD backup with a CRT implant may not be straightforward.8 The decision for CRT-P or CRT-D implantation includes not only the medical facts, but also the important considerations based on values and principles. Patients and physicians may wrestle with fundamental questions about quality and quantity of life and struggle to come together toward a truly informed consent process. There are no formal guidelines or standards that argue for specific content to be included in the informed consent process for CRT. This article examines 4 categories of questions regarding CRT based on an understanding of autonomy and shared decision-making as elements of informed consent: (1) control over the manner of death, (2) quality versus quantity of life, (3) therapeutic flexibility, and (4) clinical uncertainty. This article may help to guide clinicians and patients by clarifying the clinical and moral considerations and the principles behind particular treatment decisions. Autonomy refers to an understanding and knowledge of available options and the ability to choose between them through rational deliberation.9,10 Respect for patient autonomy is the foundation of modern bioethics and, in …

Simple SummaryRomania maintains its regrettably leading position in terms of mortality caused by cervical cancer in Europe, with any available studies evaluating the oncological outcomes and quality of life of these patients. Our study could provide a historical comparison for future randomized controlled trials in Eastern Europe needed to confirm these results.(1) Background: Cervical cancer patients have been found to have worse quality of life (QoL) scores due to cancer treatment, not only when compared to the general population, but also when compared to other gynecological cancer survivors. In Eastern European developing countries, the health care system often cannot afford the uppermost standardized treatment for these patients. In the absence of a comparable study in our country, the authors’ aim for this retrospective cross-sectional observational study was to evaluate the overall survival (OS) and the QoL o cervical cancer survivors; (2) Methods: 430 patients were analyzed. The first objective is to evaluate the OS rates of patients with cervical cancer stages IA2 to IIB undergoing radical hysterectomy (RH) +/− neoadjuvant or adjuvant radiotherapy +/− chemoradiotherapy treatment combinations. The second objective is to assess their QoL, using two standardized questionnaires issued by the European Organisation for Research and Treatment of Cancer (EORTC), namely QLQ-C30 and QLQ-CX24. (3) Results: The mean age of the participants was 51 years (22–76) and the average follow-up time was 65 months (2–128). At the time of the analysis, 308 out of 430 patients were alive, with a mean five-year OS of 72.4%. The multivariate Cox regression analysis identified stage IIB, parametrial invasion, and the lymph node metastases as independent prognostic risk factors negatively impacting the OS. Of the 308 patients still alive at the time of the analysis, 208 (68%) answered the QoL questionnaires. The QLQ-C30 shows a good long-term Global QoL of 64.6 (median), good functioning scores, and a decent symptom scale value. However, the EORTC QLQ-CX24 showed high values of cervical cancer-specific symptoms, namely: lymphedema, peripheral neuropathy, severe menopausal symptoms, and distorted body-image perception. The results also indicate a significant decline in the quality of sexual life with a low sexual enjoyment and decreased level of sexual activities. (4) Conclusion: Despite a good OS, in this setting of patients, cervical cancer survivors have a modest QoL and sexual function. Our study may provide a comparison for future randomized, controlled trials in Eastern European countries needing to confirm these results.

131st ENMC International workshop: Selection of Outcome Measures for Peripheral Neuropathy Clinical Trials: 10–12 December 2004, Naarden, The Netherlands

A 26-year-old woman with congenital heart disease, postatrial septal defect repair, postarterial catheter ligation, hypoxia-associated pulmonary hypertension, and reduced right heart function, which manifested as a severe decrease in activity tolerance, chest tightness and shortness of breath, and easy fatigue of breathing, was treated with oxygen, targeting medications such as anisentan, tadalafil, remodulin, and diuretic potassium supplementation to enhance cardiac function, and then her symptoms were slightly improved compared with the previous ones. She was guided with in-hospital respiratory training to the extent that the patient could tolerate it and then was discharged from the hospital to have a home-based respiratory rehabilitation for a period of 3 months. The training plan was as follows: (i) Respiratory muscle function test: the patient's resting maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP) were assessed by the respiratory trainer equipment, and the respiratory muscle weakness/invulnerability was defined as a measured maximal pressure value less than 80 cmH2O according to the ERS guidelines.1 (ii) Respiratory muscle training impedance progression: first month, 30% of the MIP and MEP of this test, 30 repetitions/day, 5–7 days/week for 1 month; second month, reassessment of respiratory muscle strength with impedance of 35% of the MIP and MEP of this test, 30 repetitions/day, 5–7 days/week for 1 month; and month 3, reassessment of respiratory muscle strength with impedance of MIP and 40% of MEP, 30 times/day, 5–7 days/week for 1 month. During the period of home respiratory rehabilitation, this patient did not experience any adverse hazardous events. (1) After 3 months of training, this patient's respiratory muscle strength improved, including a significant increase in MIP from 43 to 53 cmH2O and a slight increase in MEP from 53 to 57 cmH2O; peak inspiratory flow rate decreased from 2.77 to 3.50 L/s, and peak expiratory flow rate decreased from 3.01 to 2.57 L/s. (2) This patient's oxygen saturation improved with oxygen (91% vs. 94%) and her heart rate decreased significantly without oxygen (102 vs. 90 bpm) compared to before training (91% vs. 94%). Additionally, her heart rate was significantly lower (102 vs. 90 bpm), and oxygen saturation was significantly better (83% vs. 89%) without oxygen than it was 3 months prior. (3) Subjective symptoms improved, with the patient initially completing a training session with a Borg score of up to 12/20. After training, she completed the same session with a Borg score of 9–10/20. (4) Weakness improved. Before training, the patient experienced more than moderate shortness of breath with minimal activity and needed a wheelchair while in an oxygenated state. After the training, she could go up and down three staircases or walk on the flat ground for 3–4 min with much less perceived dyspnea. Respiratory muscle weakness is common in patients with pulmonary arterial hypertension;2 patients with respiratory muscle weakness are prone to increased respiratory muscle work, which causes respiratory muscle fatigue, alters respiratory responses, and ultimately leads to exercise intolerance. Respiratory muscle training can increase inspiratory muscle strength and endurance. The abnormal performance associated with respiratory muscle weakness can be partially counteracted, thus improving exercise capacity. In addition to exercise rehabilitation in the conventional sense, more rehabilitation modalities have been shown to improve exercise tolerance in patients with cardiovascular disease, and respiratory muscle rehabilitation can be an important modality for home rehabilitation due to its simplicity and ease of implementation.3 We have seen significantly improved respiratory muscle strength, functional capacity, as well as dyspnea and fatigue in this complex pulmonary arterial hypertension patient after 3 months of respiratory muscle rehabilitation training, which is consistent with the findings of Saglam M et al.4 In addition to this, this patient had increased peripheral oxygen saturation and decreased heart rate after training compared to pretraining. Although both MIP and MEP improved in this patient, the respiratory muscle strength was still lower than the normal expected value, which indicated that the patient still had residual inspiratory muscle weakness, which may be related to the fact that sarcopenia is common in patients with pulmonary arterial hypertension, where respiratory muscle damage can be more severe than skeletal muscle damage, making it more difficult to improve the respiratory muscle strength.4-7 Also, the increased oxygen saturation and decreased heart rate in patients may be related to the fact that respiratory muscle training improves the efficiency of the patient's respiratory muscle6 and results in a decrease in the cardiac output required to do the work of breathing to maintain ventilation under the same conditions and some improvement in oxygen kinetics.4, 8, 9 It has also been shown that increasing inspiratory muscle strength increases the ventilatory load required for the onset of metabolic reflexes,10, 11 which can increase peripheral muscle blood flow and oxygenation during exercise in patients with heart failure,10 thus potentially delaying the onset of fatigue, which may also contribute to the improvement in exercise capacity and subjective symptoms in this patient. Although the guidelines suggest cardiac rehabilitation in patients with pulmonary arterial hypertension, including a variety of rehabilitation modalities, it is not possible to carry out a wide range of rehabilitation therapies in the clinical reality of dealing with critically ill patients. Therefore, it is particularly important to choose the appropriate rehabilitation introduction technique to provide a starting point for a more comprehensive rehabilitation treatment and to suggest confidence in the patient's recovery. We are in the process of relevant research to clarify exactly which rehabilitation treatment can be used as this initial rehabilitation treatment. This patient's results are in line with our research expectations, and respiratory muscle rehabilitation may be an option as an introduction therapy. Low oxygen saturation is an important cause of patients' quality of life, which is also an important indicator of the impact of disease risk stratification. This type of respiratory muscle rehabilitation, which can be implemented under home conditions, can help patients to improve their oxygen saturation even when their respiratory muscle strength is not elevated, with the aim of improving their quality of life and reducing the risk stratification of the disease. Xinxin Yan and Ya Song reviewed the literature and wrote the manuscript; Xinxin Yan and Ya Song supervised and revised the manuscript. All authors read and approved the final manuscript. This study was financially supported from The Basic Research Program for Beijing–Tianjin–Hebei Coordination under grant no. 19JCZDJC65500(Z), Chinese Academy of Medical Science Health Innovation Project (grant nos. 2021-I2M-1-042, 2021-I2M-1-058, and 2022-I2M-C&T-A-005), Tianjin Outstanding Youth Fund Project (grant no. 20JCJQIC00230), and CAMS Innovation Fund for Medical Sciences (CIFMS) (grant no. 2022-I2M-C&T-B-012). The authors declare no conflict of interest. Approved by the Institutional Review Board and Ethics Committee of FuWai Hospital (Approval No. 2022-1686, Approval Date: 2022-3-8), and informed consent have been properly documented.

Spinocerebellar ataxia type 10 is a neurodegenerative disorder that is due to an expanded ATTCT repeat tract in the ATXN10 gene. Our aim was to describe clinical characteristics and intragenic haplotypes of patients with spinocerebellar ataxia type 10 from Brazil and Peru. Expanded alleles were detected by repeat-primed polymerase chain reaction. Disease progression was measured by the Scale for the Assessment and Rating of Ataxia, and the Neurological Examination Score for Spinocerebellar Ataxias when possible. Haplotypes were constructed based on polymorphic markers within and outside the gene. Thirteen new families were diagnosed (three from Peru). Patients from three Brazilian families diagnosed previously were also reassessed. In total, 25 individuals (16 families) were evaluated. Mean (± SD) age at onset and disease duration were 34.8 ± 10.2 and 12 ± 8 years, respectively. Common findings were ataxia, dysarthria/dysphagia, nystagmus, pyramidal signs, ophthalmoparesis and seizures. No associations were found between clinical findings and geographical origins. Twelve patients living in remote regions were examined only once. In the remaining individuals, the Scale for the Assessment and Rating of Ataxia score, and Neurological Examination Score for Spinocerebellar Ataxias worsened by 0.444 (95% CI, -0.088 to 0.800) and 0.287 (95% CI, -0.061 to 0.635) points/year, respectively. A common haplotype, 19CGGC14, was found in 11/13 of Brazilian and in 1/3 of Peruvian families. The progression rate was slower than in other spinocerebellar ataxias. A consistently recurrent intragenic haplotype was found, suggesting a common ancestry for most, if not all, patients.