Subject(s)
Abnormalities, Multiple/diagnosis , Cardiomegaly/diagnosis , Genetic Diseases, X-Linked/diagnosis , Hypertrichosis/diagnosis , Osteochondrodysplasias/diagnosis , Abnormalities, Multiple/diagnostic imaging , Adult , Biopsy , Cardiomegaly/diagnostic imaging , Child , Diagnosis, Differential , Female , Genetic Diseases, X-Linked/diagnostic imaging , Humans , Hypertrichosis/diagnostic imaging , Mitral Valve Prolapse/diagnosis , Osteochondrodysplasias/diagnostic imaging , Pedigree , Pulmonary Valve Stenosis/diagnosis , Radiography , Rare Diseases/diagnosisABSTRACT
Diabetes Mellitus type 2 (DM2) is a group of metabolic disorders characterized by defective insulin action or secretion or both with a 10.6% incidence in Mexican Mestizo population, DM2 is also classified within the localized misfolding diseases due to the amyloid pancreatic deposits found in 90% of the DM2 necropsies. The pancreatic amyloid main component is a protein known as human islet amyloid polypeptide (hIAPP) or amylin, the most common mutation is the S20G in Asian population with a polymorphic frequency in DM2 Asian patients. The aim of this study was to search this mutation in Mexican Mestizo general population (104) and DM2 patients (100). This is the first molecular study of hIAPP gene in Mexican population and in which we developed an alternative more effective antisense primer for the analysis of the NFGAILSS region in hIAPP exon 3 critical for the amyloid beta structure formation. We did not find the mutation in any of the 204 analyzed samples, thus the findings show that S20G is not a common mutation in Mexican Mestizo population.
Subject(s)
Amyloid/genetics , Mutation , Asian People/genetics , Chi-Square Distribution , Diabetes Mellitus, Type 2/diagnosis , Diabetes Mellitus, Type 2/epidemiology , Diabetes Mellitus, Type 2/genetics , Gene Frequency , Humans , Incidence , Islet Amyloid Polypeptide , Mexico/epidemiology , Population Groups/geneticsABSTRACT
Worldwide, the use of cocaine has an increased over the years, various secondary effects have been described. Here we present a 48 years old female with a 2-month evolution bucconasal ulcer in the hard palate induced by cocaine usage accompanied by swallow and phonation dysfunctions. Ethiopathogenesis, differential diagnoses and treatment are discussed.
Subject(s)
Bone Diseases/chemically induced , Cocaine-Related Disorders/complications , Mouth Diseases/chemically induced , Palate, Hard , Female , Humans , Middle AgedABSTRACT
El consumo de cocaína va en aumento en la población mundial, los efectos del consumo de esta droga pueden ocasionar efectos secundarios. Se presenta un caso de paciente femenino de 48 años de edad que presenta una úlcera crónica buco-nasal de 2 meses de evolución, la cual le ocasiona problemas para la deglución y fonación. Se discuten la etiopatogenia, diagnóstico diferencial y tratamiento
Worldwide, the use of cocaine has an increased over the years, various secondary effects have been described. Here we present a 48 years old female with a 2-month evolution bucconasal ulcer in the hard palate induced by cocaine usage accompanied by swallow and phonation dysfunctions. Ethiopathogenesis, differential diagnoses and treatment are discussed
