Global Journal of Rare Diseases

Journal Information
EISSN: 26407876
Total articles ≅ 43

Latest articles in this journal

, López-Resa Patricia, Pulido-García Noelia, López-Peces Paula, Santos-Muriel Noelia, Gutierrez-Arce Gabriela
Global Journal of Rare Diseases, Volume 7, pp 011-016;

Down Syndrome (DS, hereinafter) is a chromosomal alteration produced by changes in the DNA sequence of chromosome 21, in addition to being the main cause of intellectual disability in the world [1].
Neves Vasco Pinto, Pacheco Maria, Silva Gonçalve Maria Inês, Rodrigues Joao, Salvado Inês, Fidalgo Jessica, Carneiro Ventura Pedro Daniel
Global Journal of Rare Diseases, Volume 7, pp 008-010;

Multiple System Atrophy (MSA) regards a group of neurodegenerative diseases sharing the same physiopathology. It is a rare group of diseases and often represents a diagnostic challenge for clinicians. Mild symptoms are present at the onset of the disease and are often neglected by patients. The case report describes a 62-year-old female with multiple episodes of syncope with 3 months evolutions. Anamnesis revealed sleep apnoea and urinary incontinence. In order to perform complementary exams, the patient was admitted to the medical ward. Autoimunnity results were negative discarding this etiology; 24-hour arterial pressure monitoring revealed a severe fluctuation of tensional values capable of explaining syncope. Other exams revealed no pathological alterations responsible for the patient complaints. Multiple System Atrophy diagnosis was made after exclusion of other possible aetiological causes for the patient’s symptoms. More prevalent diseases such as Parkinson’s Disease, atypical Parkinsonic syndromes, and pure autonomic failure, among others may replicate the same symptoms. Diagnosing the patient with Multiple System Atrophy represented a challenge because of its rarity and clinical complexity. Being a disease with poor outcomes and representing necessary lifestyle changes to the patients and family life, an early and exact diagnosis may provide time and more life quality, within the disease limitations. Internists are often presented with complex patients being obligated to gather all pieces, and put them together, so that de puzzle may be deciphered. Learning points - Multiple systems atrophy is a rare incapacitating disease and it is believed to be underdiagnosed; - Complex diseases often present mild nonlimiting symptoms that patients might tend to neglect.
, Guerrieri Emanuele
Global Journal of Rare Diseases, Volume 7, pp 001-007;

Clinical publications on this morbid condition report as many as 16 different Nav1 7 channel substitutions. They also report more than 40 pharmacological treatments, including agents with sodium channel blocking but nonspecific activity (mexiletine, lidocaine, carbamazepine), anti-neuropathic drugs (gabapentinoids and antidepressants), antidepressant drugs with efficacy on migraines (amitriptyline) vasoactive drugs for the management of hypertension, and analgesics (opioids and ketamine). Current research fails to address all patients’ clinical needs, although it recently suggests new genetic hypotheses yet to be tested and the central importance of genetic counseling, to inform patients and their families about the severity, likely course of symptoms, and risk of complications, and in some cases to guide clinical management. Current findings and the significant morbidity associated with the condition, even in light of the single case presented, highlight the need for mechanism-based therapies to improve clinical outcomes.
Hernandez Claudia Chavez, , Laime Sirley Gonzalez, Garcia Ariel Martinez, Michel Lazaro, Legarreta Morera, Perez Marisol Gonzalez
Global Journal of Rare Diseases, Volume 6, pp 006-009;

Maria Chatzipetrou, Nickolaos Tzanakis, George Giannopoulos, Michail Kornaropoulos
Global Journal of Rare Diseases, Volume 6, pp 001-003;

, Lopez-Gallegos D, Faugier-Fuentes E, Pardo-Castaneda M, Barragan- Perez E, Nunez-Barrera I, Sanchez-Ruiz M, Ramon-Garcia G
Global Journal of Rare Diseases, Volume 5, pp 030-035;

Da Silva Catharino Antonio Marcos, Da Silva Brito Kattiucy Gabrielle, Dos Santos Edarlan Barbosa, Martins Gilberto Canedo, Orsini Neves Marco Antonio
Global Journal of Rare Diseases, Volume 5, pp 025-026;

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