Juan Francisco Miquel P

Composición genética de la población chilena. Distribución de polimorfismos de DNA mitocondrial en grupos originarios y en la población mixta de Santiago

BACKGROUND The analysis of mitochondrial DNA restriction site polymorphisms assigns most Latin American aborgines to four haplogroups. These are characterized by determined polymorphic restriction sites and a deletion of 9 base pairs in the intergenic region V. AIM To study the distribution of mitochondrial DNA haplogroups in Chilean aboriginal groups, as well as in the mixed population of Santiago. MATERIAL AND METHODS One hundred twenty Aymara subjects and 23 Atacameño subjects from the Northern part of Chile and 162 randomly chosen subjects residing in Santiago were studied. DNA was extracted from peripheral lymphocytes. Mitochondrial DNA was amplified by means of polymerase chain reaction. RESULTS The frequency of haplogroup B decreases from north to south. Aymaras in the north have the highest frequency (64%) and it is absent among the Yamanas (previously studied) in the extreme South. Haplogroups C and D show an inverse tendency. It is noteworthy that 84% of mitochondrial haplogroups of the mixed population of Santiago are of Amerindian origin whereas the Y-chromosomes are mainly European. CONCLUSIONS The peculiar distribution of haplotypes indicate that the population of Santiago is the result of an asymmetric mating system in which the females ancestors were mainly Amerindian and the male ancestors mainly European.

Historia natural de la colelitiasis: incidencia de colecistectomía en un área urbana y una rural mapuche, en la última década

BACKGROUND Cholelithiasis is the second cause of hospital admissions in Chile. AIM To study the prevalence of symptomatic gallstone disease and opportunity of cholecystectomy in La Florida, Santiago and among Mapuche Indians in Huapi Island. PATIENTS AND METHODS In the period 2000-2001, we contacted to 71% (1127 subjects) and to 61% (145 subjects) patients of La Florida and Huapi Island, respectively, that had previously participated in an epidemiological study on cholelithiasis in 1993. We defined symptomatic gallstone patients as those with a history of biliary colic. Each patient was subjected to gallbladder ultrasound. RESULTS In 1993, 30-35% of gallstone patients were symptomatic (approximately 70% women). During the lapse 1993-2001, only 50% of subjects from La Florida and 25% of patients from Huapi Island were cholecystectomized (p < 0.05). Fifty percent of cholecystectomies were emergency operations. In 38 symptomatic Mapuche Indians from Huapi, cholecystectomy was indicated in 2001. After five months of the indication, only one of these subjects had been operated. Laparoscopic cholecystectomy represented 40% of all cholecystectomies performed in the National Health Service Hospitals. CONCLUSIONS This study demonstrates an unacceptable high prevalence of symptomatic gallstone patients remaining non-operated in both the urban and rural communities. This reciprocally correlates with the high frequency of emergency cholecystectomies and the high incidence of gallbladder cancer among Chileans. This study contrasts negatively with the situation of Scotland, where 73.5% of cholecystectomies were laparoscopic in 1998-1999. To reach Scotland standards, the Chilean Public Health System should increase the number of cholecystectomies from 27,000 in 2001 to 57,510

Infarto encefálico por embolia aérea: Caso clínico

Ischemic stroke due to embolic air is uncommon. There are fewreports of patients with air embolic stroke as a complication of endoscopic procedures. Thetemporal relationship between the stroke and this procedure is the most important clue for thediagnosis. CT scan and MRI of the brain are confirmatory tests. The morbidity and mortality ishigh. Patients should be hospitalized in a critical care service and treated as soon as possiblewith oxygen in a pressure camera. We report a 52 years old woman with an ovarian cancerthat, during an upper gastrointestinal endoscopy, had a severe alteration of consciousness thatdid not respond to the use of Flumazenil. A CT scan showed multiple areas of air embolism inthe watershed area between anterior and middle right cerebral arteries. A conservativetreatment was decided and the patients died 48 hours later (Rev Med Chile 2005; 133: 453-6).(

Litiasis biliar en niños: un estudio clínico-morfológico

Background: The use of ultrasonography increased the frequency of diagnosis of cholelithiasis in childhood. Aim: To determine the clinical and laboratory features and follow up of children with biliary stones. Patients and methods: Twenty six children (13 male, aged 1 month to 14 years) were prospectively enrolled. Results: Nine children had a past medical history of factors potentially predisposing to stones. A clinical presentation with vomiting (50%), abdominal pain (46%) and jaundice (23%) was the most common indication for surgery. The diagnosis was based on abdominal ultrasound in all children. Cholecystectomy was performed in 15 children (laparoscopy in 13 and open surgery in 2). Children who underwent surgery were older than those who did not undergo surgery (p <0.001), but they did not have differences in liver function tests. Eight children had pigmented stones and seven had cholesterol stones. Conclusions: In our patients, neither family history nor laboratory tests were useful in the diagnosis as well as in the clinical decision of surgery, which was based on symptoms. The presence of cholesterol stones in a high proportion of these children may be a unique situation in Chile, considering the high prevalence of this disease in the adult population (Rev Med Chile 2003; 131: 37-45)

Cobertura de la estrategia preventiva de cáncer de vesícula biliar en Chile: Resultados de la Encuesta Nacional de Salud 2009-2010

Background: In Chile, gallbladder cancer (GBC) is one of the most important causes of death and gallstone disease (GSD) is its main risk factor. Abdominal ultrasonography (AU) is used for the diagnosis of GSD and cholecystectomy is used to prevent it. Aim: To estimate GSD prevalence in the general population and to assess the diagnostic and therapeutic coverage of GSD as a preventive strategy for GBC in Chile. Material and Methods: A standardized digestive symptoms questionnaire of The 2009-2010 Chilean National Health Survey was answered by 5412 adults over 15 years old. Self-reports of AU, GBD and cholecystectomies were recorded. Results: The prevalence of biliary-type pain was 7.1%. During the last five years, the prevalence of AU was 16%. GSD was reported in 20% of these tests and 84% of them were asymptomatic. The prevalence of AU was significantly lower in Araucania region and among people with less than 12 years of education. Life cholecystectomy prevalence was 11% and reached 40% in people aged over 60 years. Women accounted for 75% of total cholecystectomies. Twenty-one percent of individuals who referred biliary-type pain, were studied with an AU. Only 60% of people with GSD confirmed by AU underwent a cholecystectomy. Conclusions: GSD affects at least 27% of the Chilean adult population. Important deficits and inequities in GSD diagnostic and therapeutic coverage were identified.BACKGROUND In Chile, gallbladder cancer (GBC) is one of the most important causes of death and gallstone disease (GSD) is its main risk factor. Abdominal ultrasonography (AU) is used for the diagnosis of GSD and cholecystectomy is used to prevent it. AIM To estimate GSD prevalence in the general population and to assess the diagnostic and therapeutic coverage of GSD as a preventive strategy for GBC in Chile. MATERIAL AND METHODS A standardized digestive symptoms questionnaire of the 2009-2010 Chilean National Health Survey was answered by 5412 adults over 15 years old. Self-reports of AU, GBD and cholecystectomies were recorded. RESULTS The prevalence of biliary-type pain was 7.1%. During the last five years, the prevalence of AU was 16%. GSD was reported in 20% of these tests and 84% of them were asymptomatic. The prevalence of AU was significantly lower in Araucanía region and among people with less than 12 years of education. Life cholecystectomy prevalence was 11% and reached 40% in people aged over 60 years. Women accounted for 75% of total cholecystectomies. Twenty-one percent of individuals who referred biliary-type pain, were studied with an AU. Only 60% of people with GSD confirmed by AU underwent a cholecystectomy. CONCLUSIONS GSD affects at least 27% of the Chilean adult population. Important deficits and inequities in GSD diagnostic and therapeutic coverage were identified.

Cobertura de la estrategia preventiva de cáncer gástrico en Chile: resultados de la Encuesta Nacional de Salud 2009-2010

Background: In Chile, gastric cancer (GC) is a major cause of cancer related deaths. The current screening strategy consists of an upper gastrointestinal endoscopy (UGE) for people aged 40 years or more with epigastric pain. Aim: To evaluate the diagnostic coverage of the use of UGE for early detection of GC in Chile. Material and Methods: As part of the digestive module of the 2009-10 National Health Survey, 5293 adults over 15 years were asked about the presence of epigastric pain, possible upper gastrointestinal bleeding (PUGB), use of proton pump inhibitors (PPIs) or histamine H2-receptor antagonists (H2RAs), family history of GC and having performed an UGE. Results: Persistent epigastric pain was observed in 3.4% of the population. PUGB signs were observed in 3.3% of the population. The prevalence of PPIs and H2RAs use was 4.3% and 2.2% respectively, reaching 21.6% in people aged 70 years and older. Life span prevalence of UGE was 18.3%, with differences by region, health insurance and educational level. UGE coverage in people aged 40 years or older with and without persistent epigastric pain was 14.4% and 3.2% respectively (Odds ratio 4.8, p<0.01). The prevalence of UGE was similar among people with or without PUGB or family history of CG. Conclusions: The estimated coverage of the current GC prevention strategy in Chile is 14.4%, evaluated at a population level. Further studies are required to determine the impact of this strategy on early GC diagnosis and mortality.BACKGROUND In Chile, gastric cancer (GC) is a major cause of cancer related deaths. The current screening strategy consists of an upper gastrointestinal endoscopy (UGE) for people aged 40 years or more with epigastric pain. AIM To evaluate the diagnostic coverage of the use of UGE for early detection of GC in Chile. MATERIAL AND METHODS As part of the digestive module of the 2009-10 National Health Survey, 5293 adults over 15 years were asked about the presence of epigastric pain, possible upper gastrointestinal bleeding (PUGB), use of proton pump inhibitors (PPIs) or histamine H2-receptor antagonists (H2RAs), family history of GC and having performed an UGE. RESULTS Persistent epigastric pain was observed in 3.4% of the population. PUGB signs were observed in 3.3% of the population. The prevalence of PPIs and H2RAs use was 4.3% and 2.2% respectively, reaching 21.6% in people aged 70 years and older. Life span prevalence of UGE was 18.3%, with differences by region, health insurance and educational level. UGE coverage in people aged 40 years or older with and without persistent epigastric pain was 14.4% and 3.2% respectively (Odds ratio 4.8, p < 0.01). The prevalence of UGE was similar among people with or without PUGB or family history of CG. CONCLUSIONS The estimated coverage of the current GC prevention strategy in Chile is 14.4%, evaluated at a population level. Further studies are required to determine the impact of this strategy on early GC diagnosis and mortality.

Litiasis biliar pediátrica en una población de alta prevalencia

Las enfermedades de la via biliar y los calculos vesiculares (colelitiasis) han sido consideradas como una causa poco frecuentes de dolor abdominal agudo en ninos, a diferencia de lo que ocurre en adultos. Sin embargo, existen diferencias sustanciales con el adulto como son una mayor proporcion de casos con causa identificable, mayor incidencia de colecistitis sin calculos y menor frecuencia de coledocolitiasis. Con la masificacion del ultrasonido es posible detectar litiasis biliar en etapa intrauterina, y en pacientes asintomaticos, lo que estaria explicando, en parte, el aumento de su incidencia. La litiasis biliar es mas frecuente de lo sugerido clasicamente en la literatura occidental y su diagnostico esta en aumento. La alta prevalencia de colelitiasis en poblacion adulta chilena, posicionan a nuestro pais como un escenario ideal para el estudio de genes candidatos asociados a la etiopatogenesis de la litiasis de colesterol. Si bien el diagnostico de la litiasis es relativamente simple, no hay consenso en la terapia de eleccion, lo que se explica fundamentalmente por una historia natural desconocida. El rol de la litiasis de colesterol a edades tempranas en la etiopatogenesis de procesos neoplasicos de la via biliar merece especial atencion

Litiasis biliar en ni??os: un estudio cl??nico-morfol??gico

Background: The use of ultrasonography increased the frequency of diagnosis of cholelithiasis in childhood. Aim: To determine the clinical and laboratory features and follow up of children with biliary stones. Patients and methods: Twenty six children (13 male, aged 1 month to 14 years) were prospectively enrolled. Results: Nine children had a past medical history of factors potentially predisposing to stones. A clinical presentation with vomiting (50%), abdominal pain (46%) and jaundice (23%) was the most common indication for surgery. The diagnosis was based on abdominal ultrasound in all children. Cholecystectomy was performed in 15 children (laparoscopy in 13 and open surgery in 2). Children who underwent surgery were older than those who did not undergo surgery (p <0.001), but they did not have differences in liver function tests. Eight children had pigmented stones and seven had cholesterol stones. Conclusions: In our patients, neither family history nor laboratory tests were useful in the diagnosis as well as in the clinical decision of surgery, which was based on symptoms. The presence of cholesterol stones in a high proportion of these children may be a unique situation in Chile, considering the high prevalence of this disease in the adult population (Rev Med Chile 2003; 131: 37-45)

Clinical and morphological features of cholelithiasis in children

Background: The use of ultrasonography increased the frequency of diagnosis of cholelithiasis in childhood. Aim: To determine the clinical and laboratory features and follow up of children with biliary stones. Patients and methods: Twenty six children (13 male, aged 1 month to 14 years) were prospectively enrolled. Results: Nine children had a past medical history of factors potentially predisposing to stones. A clinical presentation with vomiting (50%), abdominal pain (46%) and jaundice (23%) was the most common indication for surgery. The diagnosis was based on abdominal ultrasound in all children. Cholecystectomy was performed in 15 children (laparoscopy in 13 and open surgery in 2). Children who underwent surgery were older than those who did not undergo surgery (p <0.001), but they did not have differences in liver function tests. Eight children had pigmented stones and seven had cholesterol stones. Conclusions: In our patients, neither family history nor laboratory tests were useful in the diagnosis as well as in the clinical decision of surgery, which was based on symptoms. The presence of cholesterol stones in a high proportion of these children may be a unique situation in Chile, considering the high prevalence of this disease in the adult population (Rev Med Chile 2003; 131: 37-45)