RESUMEN
INTRODUCTION: Von Hippel-Lindau disease (e.g. VHL) is an autosomal dominant multi-organ cancer syndrome caused by a mutation in the VHL tumour suppressor gene. In this study, we introduce a novel genetic variant found in 11 family members diagnosed initially with isolated Pheochromocytoma. Subsequent findings revealed its association with VHL syndrome and corresponds to the Type 2 C phenotype. METHODS: The VHL gene was amplified through the utilisation of the polymerase chain reaction (PCR). PCR fragments were sequenced using bidirectional Sanger sequencing, using BigDye™ Terminator v3.1 Cycle Sequencing Kit, running on the 3500 genetic analyser. Results were assembled and analysed Using Software SeqA and chromas pro. RESULTS: A heterozygous in-frame duplication of three nucleotides, specifically ATG, c.377_379dup; p.Asp126dup in exon 2, was identified in all the patients tested within the pedigree. CONCLUSION: In this study, we disclose the identification of a novel genetic variant in a Jordanian family, affecting eleven family members with pheochromocytoma associated with VHL disease. This finding underscores the importance of screening family members and contemplating genetic testing for individuals newly diagnosed with pheochromocytoma and could enhance our comprehension of the potential adverse consequences associated with VHL germline mutations.
Goal: To study a novel gene change in a family with Von Hippel-Lindau (e.g. VHL) syndrome, which increases cancer chances.Participants: 11 family members with Pheochromocytoma, a tumour linked to VHL.Methods:Used PCR to copy the VHL gene.Analysed the gene using Sanger sequencing.Findings:Found a novel gene change in all family members. This change, called an in-frame duplication, affects a protein.It's in a specific part of the gene.Conclusion:Stressing the importance of genetic testing for Pheochromocytoma patients to grasp VHL mutation risks.
Asunto(s)
Neoplasias de las Glándulas Suprarrenales , Linaje , Fenotipo , Feocromocitoma , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau , Enfermedad de von Hippel-Lindau , Humanos , Feocromocitoma/genética , Enfermedad de von Hippel-Lindau/genética , Femenino , Masculino , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau/genética , Adulto , Neoplasias de las Glándulas Suprarrenales/genética , Persona de Mediana Edad , Variación GenéticaRESUMEN
Fungal bezoar formation is a complication of fungal urinary tract infections that are usually caused by Candida species and other fungal types. They can form in any site along the urinary tract and may cause an obstruction to the urine flow that would require drainage by nephrostomy, a ureteric stent, and sometimes surgical intervention is needed. In this case report we discuss a case of an adult male who had an extensive fungal bezoar infection caused by Candida tropicalis causing him anuria and acute kidney injury. The bezoars were found in the bladder, the ureters, and both kidneys. The patient was treated with bilateral ureteric stent insertion and with fluconazole for 3 weeks. Bilateral ureteroscopy and urine culture were done after 2 months and they showed that the bezoars have been eradicated on both gross and microscopic levels.
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The objective of this study was to assess the level of knowledge and awareness about epilepsy among patients with epilepsy (PWE) and to determine the correlation with sociodemographic and disease-related factors. A prospective cross-sectional study was set, and it included PWE attending the adult neurology clinic at Jordan University Hospital (JUH), Amman, Jordan. A structured questionnaire was utilized, which consisted of 3 parts: sociodemographic factors, disease characteristics, and an epilepsy knowledge scale - the Epilepsy Knowledge Profile-General (E.K.P-G) scale. There was a total of 108 patients, 43 males and 65 females with an age range from 16 to 63â¯years. The average score of the subjects in the E.K.P-G scale was 16.4/34 (48%). Twenty out of the 34 questions were answered correctly by less than 50% of the respondents. There was an overall poor understanding of the etiology of epilepsy. A higher E.K.P-G score was significantly correlated with higher levels of education, higher household income, controlled seizures for more than 2â¯years, and living in urban areas. On the other hand, there was no significant correlation between the level of knowledge and age, gender, marital status, occupational status, type of seizure, duration of epilepsy, source of information, number of antiepileptic drugs (AEDs), and family history of epilepsy. In conclusion, the study showed a significant lack of knowledge about epilepsy among PWE at JUH. A public educational program is necessary in Jordan to educate PWE about their disorder.