Medicine
Leila Mahboobi; Babak Sandoghchian Shotorbani
Abstract
Introduction: FMF is a genetic disorder characterized by recurrent episodes of fever and inflammation, primarily affecting individuals of Mediterranean origin. The disease is caused by mutations in the MEFV gene, which exhibit variations in their distribution among different populations. The identification ...
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Introduction: FMF is a genetic disorder characterized by recurrent episodes of fever and inflammation, primarily affecting individuals of Mediterranean origin. The disease is caused by mutations in the MEFV gene, which exhibit variations in their distribution among different populations. The identification of specific mutations is critical for the diagnosis, management, and genetic counseling of FMF patients.Material and Methods: Blood samples were collected from each participant for genetic analysis. Genomic DNA was extracted from the blood samples using a standard DNA extraction kit. The extracted DNA was then subjected to polymerase chain reaction (PCR) amplification of the MEFV gene exons using specific primers. The PCR products were sequenced using Sanger sequencing technology to identify the presence of mutations in the MEFV geneResults: The association between the presence of mutations in the MEFV gene and clinical manifestations was further analyzed using chi-square tests. The results indicated a statistically significant association between the M694V mutation and the presence of fever episodes (p<0.001), abdominal pain (p<0.001), and joint involvement (p<0.001). Similarly, the V726A mutation was significantly associated with the presence of fever episodes (p<0.001), abdominal pain (p<0.001), and joint involvement (p<0.001).Conclusion: our study provides valuable insights into the distribution of MEFV gene mutations in patients with FMF. The identification of specific mutations and their association with clinical manifestations contributes to a better understanding of FMF pathogenesis and can aid in the diagnosis and management of affected individuals. The M694V, V726A, M680I, and E148Q mutations were the most common mutations observed, with the majority of mutations located in exon 10 of the MEFV geneencoding the B30.2 domain of the pyrin protein.
Medicine
Leila Mahboobi; Babak Sandoghchian Shotorbani
Abstract
Introduction: FMF is a recurrent inflammatory disorder characterized by diverse clinical manifestations during the acute phase of the disease. Abdominal pain, chest pain, joint involvement, and skin manifestations are among the most common clinical findings observed in FMF attacks. Recognizing and understanding ...
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Introduction: FMF is a recurrent inflammatory disorder characterized by diverse clinical manifestations during the acute phase of the disease. Abdominal pain, chest pain, joint involvement, and skin manifestations are among the most common clinical findings observed in FMF attacks. Recognizing and understanding the distribution of these clinical features is crucial for accurate diagnosis and appropriate management of FMF patients.Material and Methods: : Data collection was carried out through face-to-face interviews and clinical assessments conducted by trained healthcare professionals. A structured questionnaire was developed to gather information on demographic characteristics, medical history, and details of the current FMF attack. The questionnaire was designed to capture the distribution and prevalence of specific clinical findings during the acute phase of FMF, including abdominal pain, chest pain, joint involvement, and skin manifestations. The severity, duration, and associated symptoms of each clinical finding were also recorded.Results: Chest pain was another common clinical finding during FMF attacks, reported by 63% of patients. The pain was described as pleuritic, worsened by deep breathing or coughing. The duration of chest pain varied, with 48% of patients experiencing pain for less than 24 hours, 34% reporting pain lasting between 24 to 48 hours, and 19% experiencing pain for more than 48 hours.Conclusion: this study sheds light on the distribution of clinical findings in FMF patients during the acute phase of the disease. Abdominal pain, chest pain, joint involvement, and skin manifestations were the most prevalent clinical manifestations observed in FMF attacks. Recognition of these findings is crucial for accurate diagnosis, appropriate management, and timely initiation of treatment.
