International journal of rare diseases & disorders最新文献

{"title":"The Urofacial (Ochoa) Syndrome","authors":"Hazzab N, M. S, Nassih H, Bourrahouat A, A. I","doi":"10.23937/2643-4571/1710038","DOIUrl":"https://doi.org/10.23937/2643-4571/1710038","url":null,"abstract":"Introduction: The urofacial (Ochoa) syndrome is a rare autosomal recessive disease characterized by congenital obstructive uropathy and abnormal facial expression. Case presentation: We reported the case of a child aged six-years-old, the second child of consanguineous parents, the father reported that she has suffered from episodes of urinary tract infection, and enuresis. She was admitted in our department for an urinary tract infection. The clinical examination showed a characteristic, inverted, facial expression. The urea and creatinine were increased and GFR: 20 ml/min, renal echography showed an enlarged kidneys, with ureteral and calycial dilatation, and a lowcompliance bladder with pseudodiverticulae, and a significant residual urine after voiding: 130 ml. Voiding cystourethrography showed a trabeculated bladder and a significant post-mictural residue. The urofacial syndrome was suspected of: Facial characteristic expression + urinary abnormalities. She was initially treated with antibiotic prophylaxis and anticholinergics, conservative treatment of renal failure and urinary self catheterization to void bladder. Conclusion: Ochoa syndrome should always be considered in patients with dysfunctional bladder who have characteristic grimacing when smiling, The prognosis of urofacial syndrome is generally poor and requires multiple treatment modalities.","PeriodicalId":93453,"journal":{"name":"International journal of rare diseases & disorders","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46472667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful ICU Care in a MERRF Patient with Severe Covid-19","authors":"Clanton Scott, Adiga Rajani, Christie Amy, Ashley Dennis","doi":"10.23937/2643-4571/1710037","DOIUrl":"https://doi.org/10.23937/2643-4571/1710037","url":null,"abstract":"Mitochondrial myopathies are a spectrum of rare diseases caused by a genetic defect in ATP production at the level of the electron transport chain. The degree of disability is variable, but often patients are severely ill and highly susceptible to increased morbidity and mortality with infection. Covid-19 is known to be especially virulent in patients with significant comorbidities. In this case, a 27-year-old man with Myoclonus Epilepsy with Ragged Red Fibers (MERRF) presented in severe shock due to Covid-19 infection with bacterial pneumonia co-infection. The patient was successfully treated and discharged following prolonged intubation and deconditioning. This case illustrates the severity of presentation in MERRF patients with Covid-19 as well as the effectiveness of early intervention.","PeriodicalId":93453,"journal":{"name":"International journal of rare diseases & disorders","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49207997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reducing Global Health Inequalities in People with Prader-Willi Syndrome: The Role of the International Prader-Willi Syndrome Organization","authors":"Holland Anthony, Hughes Marguerite","doi":"10.23937/2643-4571/1710036","DOIUrl":"https://doi.org/10.23937/2643-4571/1710036","url":null,"abstract":"","PeriodicalId":93453,"journal":{"name":"International journal of rare diseases & disorders","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43425605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mainstream Health Care for Adults with Intellectual Disability due to Rare Causes","authors":"Wallace Robyn A","doi":"10.23937/2643-4571/1710032","DOIUrl":"https://doi.org/10.23937/2643-4571/1710032","url":null,"abstract":"At least half of adults with intellectual disability are estimated to have diagnosed or undiagnosed chromosomal or DNA mutations as the cause of their intellectual disability, which, by definition, are rare. Mostly however, associated physical health problems are not rare. An unintended consequence of focus on the rareness of the cause of the intellectual disability, no matter how useful that is to understanding the syndrome, is that it deflects attention away from the relatively common physical health problems that occur in this population, creates a barrier to mainstream health access, and may contribute to the excessive preventable mortality and morbidity observed in this population. A view is presented that the specialist skills of scientist and clinician experts and organization’s in rare causes of intellectual disability in collaboration with mainstream clinicians, health services and the disability sector may contribute to better health outcomes with longer and better quality of life for adults living with rare causes of intellectual disability. BRiEF CoMMuNiCAtioN","PeriodicalId":93453,"journal":{"name":"International journal of rare diseases & disorders","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45712864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Qualitative Methodology to Support the Evaluation of Novel Treatments for Hyperphagia in People with Prader-Willi Syndrome","authors":"L. Mindy, Elder Sonya J, Bolding Siri, Hefner Megan, Miller Jennifer L, Salehi Parisa","doi":"10.23937/2643-4571/1710030","DOIUrl":"https://doi.org/10.23937/2643-4571/1710030","url":null,"abstract":"Title: A Qualitative Methodology to Support the Evaluation of Novel Treatments for Hyperphagia in People with PraderWilli Syndrome. Background: Assessing change in symptoms affecting people with Prader Willi Syndrome (PWS), a rare disease, is complicated by the influence of different levels of food security procedures and the impact of immediate circumstances on symptom presentation and severity. We report on the use of qualitative interviews to collect information on behavioral change and on the impact of factors specific to individual participants with PWS in a clinical trial. Methods: Soleno Therapeutics’ Phase 3 program consists of a double-blind study, an open-label extension study as well as a sub-study consisting of qualitative interviews collected at baseline, the end of the randomized period, and two points during the open label extension. Interviews were conducted with a semi-structured guide covering specific food-security procedures and three areas of interest: foodrelated behavior, non-food-related behavior, and aspects of daily life. Two coders trained in qualitative analysis singlecoded baseline interview transcripts with a dual-coded subset to confirm reliability. From follow-up interviews mentions of change will be dual-coded, with coders discussing any discrepancies to reach resolution. In future analyses, descriptions of change that also include potential attributions from caregivers will include that contextualization based on a pre-specified adjudication plan. Results: The analysis of the baseline interviews identified a variety of food-security procedures practiced by families of people with PWS participating in the clinical trial, ranging from total lockdown since diagnosis to the absence of any food security or routines. Behaviors that were the subject of the qualitative interview were present at baseline in numbers varying from 17 to 100% of the participants in this study. Specific behaviors reported present in all trial participants varied in their manifestation, for example, frequent conversations about food were described by some families as a negative symptom (arguments, nagging, manipulation) and by others as a positive (productive discussion of food choices). Conclusion: The heterogeneity of the trial participants in the studies of DCCR in people with PWS, as evidenced by the baseline qualitative interviews, supports the need to obtain a further understanding of trial participantspecific experiences before and during a clinical trial. This approach could be used in clinical trials to help support and contextualize treatment efficacy in rare disease populations when used alongside other clinical outcomes.","PeriodicalId":93453,"journal":{"name":"International journal of rare diseases & disorders","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41525953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Defining a Growing and Maturing Skeleton and its Relevance in Diseases that Affect Skeletal Growth, Such as X-Linked Hypophosphataemia (XLH)","authors":"Beck-Nielsen Signe, Greggio Nella Augusta, Hagenäs Lars","doi":"10.23937/2643-4571/1710029","DOIUrl":"https://doi.org/10.23937/2643-4571/1710029","url":null,"abstract":"The human skeleton is composed of bone, a living tissue that undergoes constant development throughout life. It is well established that changes in bone metabolism during the developmental stages of growth, modelling and remodelling determine long-lasting physiological parameters, such as final height achieved, peak bone mass, bone quality and bone health. A complex interplay of environmental, genetic, nutritional, physiological and behavioural factors plays a role in these processes. These modifiable and non-modifiable factors influence skeletal development and bone quality, as well as the occurrence of clinical conditions during adulthood, such as osteoarthritis and osteoporosis. The phase of skeletal growth is a critical period in childhood development. Factors that adversely impact bone growth in childhood will have lifelong consequences, including short stature in adulthood and potentially also deficits in bone geometry, bone strength and bone structure. X-linked hypophosphataemia (XLH) is an example of a genetic condition that exerts a significant negative impact on skeletal growth and development. This rare inheritable disease is characterized by chronic renal phosphate wasting, where the lack of phosphate during the pivotal period of bone development especially in periods of rapid growth leads to rickets and poor longitudinal growth, resulting in limb deformities and disproportionate short stature. Understanding skeletal development in disorders associated with impaired growth is important to accurately identify growth patterns that deviate from the expected norm. The absence of a universally accepted definition for a growing skeleton poses a challenge for assessing end-of-growth in young adults. The authors reviewed key aspects of skeletal development, how skeletal growth is currently defined and measured, and propose definitions of a growing and maturing skeleton that would be applicable in the clinical setting, both in health and in pathological growth disorders, such as XLH.","PeriodicalId":93453,"journal":{"name":"International journal of rare diseases & disorders","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45923404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of Surrogate Parameters between CF-Patients in Frankfurt and Moscow (1990-2015)","authors":"Varescon Jean-Pascal, Smaczny Christina, Eickmeier Olaf, Babadjanova Gulja, Philippova Yulia, Krasovskiy Stanislav, Amelina Elena, Wagner Thomas Otto Friedrich","doi":"10.23937/2643-4571/1710031","DOIUrl":"https://doi.org/10.23937/2643-4571/1710031","url":null,"abstract":"Background: Previous studies have demonstrated that CF prognosis is dependent of three major parameters: FEV1, BMI and need of intravenous antibiotic therapy. The CF centres of Frankfurt, Germany, and Moscow, Russia, care for cystic fibrosis patients. We decided to investigate and compare both centers from 1990 to 2015. No comparable study has been published so far. Methods: German patient data was collected from the national cystic fibrosis database “Muko.web”. Missing values were extracted from the Hospital Information System. Russian patient data were taken directly from the medical records in Moscow. In a descriptive statistical analysis with Bias and RStudio the values were compared. Results: 428 patients from Moscow (217 male, 211 female; 348 (81.3%) were P. aeruginosa positive) and 159 patients from Frankfurt (92 male, 67 female; 137 (86.2%) with P. aeruginosa positive) were compared with regard to P. aeruginosa positivity, BMI, FEV1 and need of intravenous antibiotic therapy. CF patients in Moscow stratified by age groups had lower BMI than CF patients in Frankfurt (age 1618: p = 0.003; age 19-22: p = 0.004; age 23-29: p < 0.001; age 30-35: p < 0.001; age 36-66: p = 0.024). In a matching pairs analysis including 100 patients from Frankfurt and 100 patients from Moscow for the year 2015 FEV1 was significantly lower in Moscow patients (p < 0.001). Conclusions: This study showed a significant difference in prognostic parameters between Frankfurt and Moscow in the cross-sectional analysis for the year 2015. A further study should evaluate this difference to show whether this difference will be found over a longer period of time.","PeriodicalId":93453,"journal":{"name":"International journal of rare diseases & disorders","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68754342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Falls and Associated Factors among Adolescents and Young Adults with Arthrogryposis Multiplex Congenita.","authors":"Jaclyn Megan Sions,&nbsp;Maureen Donohoe,&nbsp;Emma Haldane Beisheim,&nbsp;Tracy Michele Shank,&nbsp;Louise Reid Nichols","doi":"10.23937/2643-4571/1710035","DOIUrl":"https://doi.org/10.23937/2643-4571/1710035","url":null,"abstract":"<p><strong>Background: </strong>Falls research among individuals with arthrogryposis multiplex congenita (AMC), a group of congenital conditions characterized by joint contractures in two or more body regions, is sparse. The primary objectives of this study were to estimate the prevalence of single, multiple, and injurious falls among adolescents and adults with AMC and identify factors associated with multiple and injurious falls.</p><p><strong>Methods: </strong>Individuals, aged 10-50 years, with a diagnosis of AMC completed questionnaires obtaining demographic and AMC-specific information, falls history (e.g., number, injurious/non-injurious), markers of bone health, orthopedic surgical history, and mobility aid use, as well as the Gillette Functional Assessment Questionnaire and the Saltin-Grimby Physical Activity Level Scale. Falls were defined as \"any body part above the ankle coming to rest on the ground, floor, or a lower level\". Falling was defined as ≥ 1 fall, while multiple falls were defined as ≥ 2 falls in the past year.Differences in falling, multiple falls, and injurious falls rates between adolescents (10-17 years) and adults (aged 18-50 years) were evaluated. Using univariate binary logistic regression models, associations between participant characteristics and multiple falls, as well as injurious falls, were evaluated, while considering age as a covariate (p ≤ 0.050); odds ratios (ORs) and 95% confidence intervals (CIs) were calculated.</p><p><strong>Results: </strong>Adolescents (N = 28; median age = 14 years) and adults (N = 40; median age = 32 years) with AMC had similar falling, i.e., 89.3% versus 70.0%, and injurious fall rates, i.e., 32.1% versus 27.5%, respectively (p > 0.050).Adolescents with AMC, however, were more likely to report multiple falls in the past year, i.e., 89.3%, when compared to adults with AMC, i.e., 57.5% (p = 0.005). Beyond age, multiple falls were associated with a greater number of lower-limb surgeries [p = 0.036, OR (95%CI): 1.18 (1.01-1.39)], ability to transfer floor-to-stand with support [p = 0.002, OR (95%CI): 8.98 (2.30-35.06)], and increased mobility per the Gillette Functional Assessment Questionnaire [p = 0.004, OR (95%CI): 1.48 (1.13-1.92)]. Factors associated with a reduced odds of multiple falls were spinal involvement [p = 0.025, OR (95%CI): 0.23 (0.07-0.84)], history of spinal surgery [p = 0.018, OR (95%CI: 0.18 (0.04-0.74)], greater upper extremity involvement [OR (95%CI): 0.65 (0.44-0.95)], home assistive device use [p = 0.010, OR (95%CI): 0.15 (0.03-0.63)], and community wheelchair use [p = 0.006, OR (95%CI): 0.16 (0.04-0.59)]. None of the explored characteristics were associated with injurious falls in the past year (p > 0.050).</p><p><strong>Conclusion: </strong>Falls are exceedingly common among adolescents and adults with AMC; potential risk and protective factors for multiple falls are identified for future prospective falls research.</p>","PeriodicalId":93453,"journal":{"name":"International journal of rare diseases & disorders","volume":"4 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8553139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39833751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Fibrodysplasia Ossificans Progressiva in Kenya","authors":"Aura Mwende, Athul Kooliyath, P. Samia, Kavulani Mutiso, R. Sagoo, P. Okiro, Stanley Mugambi, A. Migowa","doi":"10.23937/2643-4571/1710033","DOIUrl":"https://doi.org/10.23937/2643-4571/1710033","url":null,"abstract":"Background: Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare and disabling disorder that affects 1 in 2 million individuals worldwide. It is caused by mutations in bone morphogenetic protein which leads to extra-skeletal ossification of soft tissues in a characteristic cranio-caudal pattern. Hallux valgus, episodic flares and progressive functional disability are characteristic features. The cause of death is often cardio-respiratory failure following thoracic insufficiency. Methods: This was a retrospective case review. Results: A two year 5-month-old boy who was otherwise normal from birth presented with a history of painful firm masses over the axilla, back, neck, elbows and occiput associated with hallux valgus and progressive inability to move both upper limbs and the neck. Radiographic features revealed pathognomonic ossification of surrounding connective tissue and histology confirmed muscle replacement by hyaline cartilage and bone. An impression of FOP was made and taper therapy with oral prednisone initiated for management of flares. Conclusions: FOP is a rare and often underdiagnosed condition. Due to the rarity of this condition, the medical fraternity’s awareness of FOP is limited and hence low diagnosis rates might reflect this lack of knowledge. This case is meant to raise awareness of this rare disease in Kenya.","PeriodicalId":93453,"journal":{"name":"International journal of rare diseases & disorders","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68754385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incentives for Pharmaceutical Companies to Develop Treatments for Rare Diseases: A Review of the Literature","authors":"Syed Abedi, Jessica Chen, Sarala Joshi, Shefali Singh, M. Sultan, Sifan Zheng","doi":"10.23937/2643-4571/1710034","DOIUrl":"https://doi.org/10.23937/2643-4571/1710034","url":null,"abstract":"Background: Numerous patients suffering from orphan diseases still lack a treatment. Pharmaceutical companies play a crucial role in the advancement of orphan drug development. This systematic literature review aims to identify and categorise current incentivising factors for pharmaceutical companies to develop orphan drugs. Methods: EMBASE and MEDLINE databases were systematically searched for terms related to orphan drug development incentives for pharmaceutical companies. Research findings were qualitatively evaluated and categorised into themes. Results: 752 publications were found in the initial search. Full-text review was performed on 64 publications and 14 publications were included in the final systematic review. Incentivising factors were split into four categories: Regulatory factors in the USA, regulatory factors in the EU, clinical trials and patient voice. Conclusion: Patient voice is a crucial factor in engaging and incentivising pharmaceutical companies in orphan drug development. Numerous policies are currently in place across both USA and EU targeting different stages of orphan drug research. Further qualitative data is required to evaluate stakeholder views on policy effectiveness.","PeriodicalId":93453,"journal":{"name":"International journal of rare diseases & disorders","volume":"8 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68755079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}