The journal Blood Cells Molecules and Diseases has published an article about congenital rare bleeding disorders. Rare diseases are defined as life-threatening or chronically debilitating diseases with a prevalence of less than one per 2000 according to the European Union or one per 1250 according to the USA. Congenital rare bleeding disorders RBD are reported in most populations, with incidence varying from 1 in 5000 (Hemophilia A), 1:30,000 (Hemophilia B) to much rarer (1:500,000 for FVII deficiency, 1-3 million for Prothrombin or FXIII deficiency). The full-text article you can find here.
On 21-22 March 2017 will be organized Rare Diseases Registries Workshop in Madrid, Spain. This event is supported by the Consumer, Health, Agriculture and Food Executive Agency (CHAFEA) for the dissemination of the 2nd Health Programme results and organized by the Centre for Biomedical Network Research on Rare Diseases (CIBERER), depending on the Instituto de Salud Carlos III. The workshop will bring together all the key stakeholders in the development of rare disease registries allowing them to share the results from several EU Health Programme projects and Joint Actions funded between 2008-2015. For more information please follow the site of the workshop.
The journal Journal of Pediatric Endocrinology and Metabolism has published an article about Gordon syndrome. Gordon syndrome (GS) is a rare form of monogenic hypertension characterized by low renin hypertension, hyperkalemia, hyperchloremic metabolic acidosis, and normal glomerular filtration rate. To date, four genes causing GS have been identified as: WNK1, WNK4, CUL3, and KLHL3. The full-text article you can find here.
The journal Critical Reviews in Clinical Laboratory Sciences has published an article about unsolved challenges in pediatric whole-exome sequencing. Whole-exome sequencing (WES) has been instrumental in the discovery of novel genes and mechanisms causing Mendelian diseases. While this technology is now being successfully applied in a number of clinics, particularly to diagnose patients with rare diseases, it also raises a number of ethical, legal and social issues. The full-text article you can find here.
The journal Ophthalmic Genetics has published a report about osteoporosis-pseudoglioma syndrome. Osteoporosis-pseudoglioma syndrome is a very rare disease mainly characterized by severe eye abnormalities and osteoporosis but also causing a broader range of clinical features. Two probands (4 and 7 years of age respectively) and their parents were assessed by genetic analysis and comprehensive ophthalmic examination. In both probands, the diagnosis of osteoporosis-pseudoglioma syndrome was confirmed by detection of three new pathogenic LRP5 variants: p.(Asp379Asn), found in the homozygous state in one proband, and p.(Asp203Ala) in the compound heterozygous state with p.(Cys612Valfs*25) in the other. To our knowledge, these are the first two cases of the syndrome described in Italy. The full-text report you can find here.
The journal Journal of Thrombosis and Haemostasis has published a report about hypodysfibrinogenaemia. Hypodysfibrinogenaemia is a rare disease characterised by decreased levels of a dysfunctional fibrinogen. It shares features with both hypo- and dysfibrinogenaemia, although with specific molecular patterns and clinical phenotypes. The full-text report you can find here.
The journal Minerva Pediatrica has published an article about Disability and inclusive education in an Italian Region. In Italy, pupils with disabilities enroll in mainstream schools and attend the ordinary classes at all educational levels. For the past twelve years, the Region Emilia Romagna has witnessed an increase in the number of children who are in need of special support. The full-text article you can find here.
The journal PloS One has published a case-control study about central nervous system tumors. Central nervous system tumors (CNS) are the most frequent solid tumor in children. Causes of CNS tumors are mainly unknown and only 5% of the cases can be explained by genetic predisposition. The journal carried out a population-based case-control study of CNS tumors in Spain, covering 714 incident cases collected from the Spanish Registry of Childhood Tumors (period 1996-2011) and 4284 controls, individually matched by year of birth, sex, and autonomous region of residence. The results for all CNS tumors showed an excess risk (OR = 1.37; 95%CI = 1.09-1.73) for SES, i.e., children living in the least deprived areas had 37% more risk of CNS tumor than children living in the most deprived areas. Results suggest that higher socioeconomic status and exposure to crops could increase the risk of CNS tumors in children. The full-text case-control study you can find here.
The journal Case Reports in Neurology has published a report about Porphyria cutanea tard. Porphyria cutanea tarda (PCT) is a rare disease, with a strong association with hepatitis C virus. PCT is particularly problematic in end-stage renal disease patients as they have no renal excretion of porphyrins and these are poorly dialyzed. The full-text report you can find here.
The journal Joint Bone Spine has published an article about mucopolysaccharidoses. Mucopolysaccharidoses are a group of rare lysosomal storage diseases including a great number of polymorph syndromes, each being related to a particular mutation responsible for a deficiency of glycosaminoglycan degrading enzymes, leading to an accumulation of glycosaminoglycans in tissues. Many of them are diagnosed in children or teenagers and have a severe prognosis because of organ failure, and are consequently usually not seen by the adult rheumatologist. The full-text article you can find here.