The journal Journal of Neurology, Neurosurgery and Psychiatry has published an article about Charcot-Marie-Tooth disease type 1A (CMT1A). CMT1A is the most common inherited neuropathy, a debilitating disease without known cure. Among patients with CMT1A, disease manifestation, progression and severity are strikingly variable, which poses major challenges for the development of new therapies. The full-text article you can find here.
The journal Molecular Genetics and Metabolism has published an article about leukodystrophies. Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The full-text article you can find here.
The journal Orvosi Hetilap has published an article about tuberous sclerosis complex. Tuberous sclerosis complex is a rare disease with high phenotypic heterogeneity, characterized by the appearance of multiplex hamartomas in the different organs. The disease is inherited by autosomal dominant manner, due to the mutations of two genes: the TSC1 or the TSC2. The full-text article you can find here.
The journal Revista Clinica Espanola has published an article about mucopolysaccharidosis. Mucopolysaccharidosis are multisystem diseases that require large multidisciplinary teams for their care. Specific recommendations are therefore needed for the transition from childhood to adulthood in this patient group. The full-text article you can find here.
The journal Arthritis Research & Therapy has published an article about dermatomyositis (DM). DM is inflammatory myopathy or myositis characterized by muscle weakness and skin manifestations. In the differential diagnosis of DM the evaluation of the muscle biopsy is of importance among other parameters. The full-text article you can find here.
The journal Autoimmunity Reviews has published an article about Systemic sclerosis (SSc). SSc or scleroderma is a disorder of the connective tissue affecting the skin, and it is often associated with visceral involvement. The predominant pathological features of SSc are autoimmunity, vasculopathy, and fibrosis. Progressive fibrosis is associated with changes in the microcirculation of the involved organs. The full-text article you can find here.
The journal Nutrients has published an article about neuromuscular diseases. Neuromuscular diseases (NMDs) represent a heterogeneous group of acquired or inherited conditions. Nutritional complications are frequent in NMDs, but they are sometimes underestimated. The full-text article you can find here.
The journal Przegląd Epidemiologiczny has published an article about the knowledge of rare diseases among health care students. Poor knowledge on rare diseases (RD) results in a significant delay in their diagnosis and treatment. So far there are no standards of university education in RD. The full-text article you can find here.
The journal Giornale Italiano di Nefrologia has published ana article about Fabry Disease. Epidemiological data relating to the prevalence and incidence of Fabry disease (FD) and other Lysosomal Storage diseases (LSDs) are largely underestimated and not yet well known. Distribution of the disease varies according to geographical area and to ethnic origin. Heterozygous females are also at risk of contracting severe and multi-symptomatic forms of FD. The full-text article you can find here.
The journal Expert Review of Molecular Diagnostics has published an article about congenital heart disease. Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenital heart defects (CHDs). The identification of a number of disease genes responsible for different syndromes have led to the identification of several transcriptional regulators and signaling transducers and modulators that are critical for heart morphogenesis. Thw full-text article you can read here.