34 research outputs found
Different Molecular Signatures in Magnetic Resonance Imaging-Staged Facioscapulohumeral Muscular Dystrophy Muscles
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and is characterized by a non-conventional genetic mechanism activated by pathogenic D4Z4 repeat contractions. By muscle Magnetic Resonance Imaging (MRI) we observed that T2-short tau inversion recovery (T2-STIR) sequences identify two different conditions in which each muscle can be found before the irreversible dystrophic alteration, marked as T1-weighted sequence hyperintensity, takes place. We studied these conditions in order to obtain further information on the molecular mechanisms involved in the selective wasting of single muscles or muscle groups in this disease
Verticillium wilt of olive: a case study to implement an integrated strategy to control a soil-borne pathogen
Kinetic analysis and enzyme concentration effect relevant to dependence of amylolysis of starch granules on specific surface area concentration
Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities SĂndrome de Andersen: uma associação de paralisia periĂłdica com arritmia cardĂaca e alteraçÔes dismĂłrficas
Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none had PP or cardiac arrhythmia. Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature) and OSA. Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene. OSA accompanied by dysmorphic features may be related to AS.<br>A sĂndrome de Andersen (SA) Ă© doença rara caracterizada pela presença de paralisia periĂłdica (PP), arritmia cardĂaca e anormalidades dismĂłrficas. Relatamos o primeiro paciente brasileiro apresentando SA, e que tambĂ©m apresenta obesidade e apnĂ©ia obstrutiva do sono (AOS). AvaliaçÔes clĂnica e genĂ©tica de seis familiares demonstraram que quatro apresentavam alteraçÔes dismĂłrficas mas nenhum tinha PP ou arritmia cardĂaca. O sequenciamento do gene KCNJ2 revelou a mutação R218W no paciente Ăndex e sua filha de 6 anos, que apresentava alteraçÔes dismĂłrficas (micrognatia, clinodactilia do quarto e quinto dedos, baixa estatura) e AOS. TrĂȘs familiares tinham clinodactilia como Ășnica manifestação mas a mutação R218W estava ausente, sugerindo que esta caracterĂstica seja influenciada por outro gene. A AOS associada a alteraçÔes dismĂłrficas pode estar relacionada Ă SA