The Urofacial (Ochoa) Syndrome
N Hazzab, S Mrhar, H Nassih, A Bourrahouat and I Aitsab
Article Type: Case Report | First Published: November 12, 2021
The urofacial (Ochoa) syndrome is a rare autosomal recessive disease characterized by congenital obstructive uropathy and abnormal facial expression. 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 a...
Successful ICU Care in a MERRF Patient with Severe Covid-19
Scott Clanton II, Rajani Adiga, MS, Amy Christie, MD, FACS and Dennis Ashley, MD, FACS, FCCM
Article Type: Case Report | First Published: September 13, 2021
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 d...
Falls and Associated Factors among Adolescents and Young Adults with Arthrogryposis Multiplex Congenita
Jaclyn Megan Sions, PhD, DPT, PT, Maureen Donohoe, DPT, PT, Emma Haldane Beisheim, DPT, PT, Tracy Michele Shank, MS, OTR/L, CHT and Louise Reid Nichols, MD
Article Type: Original Article | First Published: September 06, 2021
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. Individuals, aged 10-50 years, with a diagnosis of AMC completed questionnaires obtaining demogr...
Incentives for Pharmaceutical Companies to Develop Treatments for Rare Diseases: A Review of the Literature
Syed Abedi, Jessica Chen, Sarala Joshi, Shefali Singh, Mustafa Sultan and Sifan Zheng
Article Type: Review Article | First Published: September 04, 2021
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. EMBASE and MEDLINE databases were systematically searched for terms related to orphan drug development incentives for pharmaceutical companies. Research findings were qualitatively eval...
A Case of Fibrodysplasia Ossificans Progressiva in Kenya
Aura Mwende, Athul Kooliyath, Pauline Samia, Kavulani Mutiso, Ravjit Sagoo, Patricia Okiro, Stanley Mugambi and Angela Migowa
Article Type: Case Report | First Published: September 03, 2021
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. A two year 5-mon...
Mainstream Health Care for Adults with Intellectual Disability due to Rare Causes
Robyn A Wallace, BSc(Hons), DipEd, MSc, MBBS, FRACP, PhD, CF, FAFRM, Dip Pall Clin Care, G Dip Neuroscience, MD
Article Type: Brief Communication | First Published: July 29, 2021
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...
Comparison of Surrogate Parameters between CF-Patients in Frankfurt and Moscow (1990-2015)
Jean-Pascal Varescon, Christina Smaczny, Olaf Eickmeier, Gulja Babadjanova, Yulia Philippova, Stanislav Krasovskiy, Elena Amelina and Thomas Otto Friedrich Wagner
Article Type: Research Article | First Published: July 24, 2021
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. German patient data was collected from the national cystic fibrosis database “Muko.web”. Missing values were extracted from the Hospital In...