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1.
J Math Biol ; 85(4): 32, 2022 09 17.
Article in English | MEDLINE | ID: mdl-36114922

ABSTRACT

The SIR (susceptible-infectious-recovered) model is a well known method for predicting the number of people (or animals) in a population who become infected by and then recover from a disease. Modifications can include categories such people who have been exposed to the disease but are not yet infectious or those who die from the disease. However, the model has nearly always been applied to the entire population of a country or state but there is considerable observational evidence that diseases can spread at different rates in densely populated urban regions and sparsely populated rural areas. This work presents a new approach that applies a SIR type model to a country or state that has been divided into a number of geographical regions, and uses different infection rates in each region which depend on the population density in that region. Further, the model contains a simple matrix based method for simulating the movement of people between different regions. The model is applied to the spread of disease in the United Kingdom and the state of Rio Grande do Sul in Brazil.


Subject(s)
Models, Theoretical , Animals , Brazil/epidemiology , Humans , Population Density , United Kingdom
2.
J Plast Reconstr Aesthet Surg ; 73(11): 1966-1975, 2020 Nov.
Article in English | MEDLINE | ID: mdl-32919948

ABSTRACT

BACKGROUND: The BAAPS advice against Brazilian butt lift (BBL) surgery in the UK was set in October 2018. A Delphi study conducted by BAAPS highlighted the importance of defining current practice and perceptions amongst UK surgeons, as this is currently unknown. OBJECTIVES: To evaluate BAAPS members' current practice and perceptions around BBL surgery to ensure patient safety and propose better recommendations. METHODS: A BAAPS-commissioned survey was emailed to all BAAPS members through an on-line link. The survey collected quantitative and qualitative information in several domains. RESULTS: This survey received a 44% response rate. Of 102 respondents, 32 surgeons undertook BBL surgery before the BAAPS advice to halt it. There was a wide variation in actual fat volumes injected, and in perceptions of what constituted a small or large volume. Virtually all respondents (96.9%) performed only subcutaneous fat injections. There were differences in fat harvest techniques. The majority (66.7%) felt that BAAPS should maintain its recommendation against undertaking BBL surgery until further data became available. Nearly a quarter of 102 respondents (20.6%) had been treated for BBL complications, the majority as a result of surgical tourism. CONCLUSIONS: The survey provides member-reported perception and experience with regard to BBL surgery in the UK. The demand for BBL surgery and its provision should be reassessed in the UK. This information will be analysed with further national and international data to better define and shape the scope of the safety of BBL surgery in the UK. BAAPS will use such data towards the production of future guidance and support for surgeons and patients.


Subject(s)
Body Contouring/methods , Buttocks/surgery , Plastic Surgery Procedures , Postoperative Complications/surgery , Subcutaneous Fat/transplantation , Surgeons/statistics & numerical data , Adult , Attitude of Health Personnel , Female , Humans , Injections, Subcutaneous/methods , Practice Patterns, Physicians' , Plastic Surgery Procedures/adverse effects , Plastic Surgery Procedures/methods , Social Perception , Surveys and Questionnaires , Tissue and Organ Harvesting/methods , United Kingdom
4.
Sci Rep ; 9(1): 20070, 2019 12 27.
Article in English | MEDLINE | ID: mdl-31882676

ABSTRACT

Helicobacter pylori (H. pylori) eradication using standard triple therapy (STT) with proton pump inhibitors (PPI), amoxicillin and clarithromycin (CLA) has been the standard in Latin America. However, CLA resistance is a rising problem affecting eradication rates. Genetic polymorphisms of CYP2C19, a PPI metabolizer may also affect eradication. The primary aims of this study were to evaluate the effect of clarithromycin resistance on H. pylori eradication in a population from Santiago, and to establish the pooled clarithromycin resistance in Santiago, Chile. Symptomatic adult patients attending a tertiary hospital in Santiago were recruited for this study. CLA resistance and the polymorphisms of CYP2C19 were determined on DNA extracted from gastric biopsies, using PCR. The STT was indicated for 14 days and eradication was determined by a urea breath test 4-6 weeks after therapy. A meta-analysis of CLA resistance studies among adult residents in Santiago was performed. Seventy-three out of 121 consecutive patients had positive rapid urease test (RUT) and received STT. Sixty-nine patients (95%) completed the study. The H. pylori eradication rate was 63% and the prevalence of CLA resistance was 26%. According to the CYP2C19 polymorphisms, 79.5% of the RUT-positive patients were extensive metabolizers. Multivariable analyses showed that only CLA resistance was significantly and inversely associated with failure of eradication (OR: 0.13; 95% confidence interval [95% CI], 0.04-0.49). A meta-analysis of two previous studies and our sample set (combined n = 194) yielded to a pooled prevalence of CLA resistance of 31.3% (95% CI 23.9-38.7). Our study shows that CLA resistance is associated with failure of H. pylori eradication. Given the high pooled prevalence of CLA resistance, consideration of CLA free therapies in Santiago is warranted. We could recommend bismuth quadruple therapy or high-dose dual therapy, according to bismuth availability. Further studies need to evaluate the best therapy.


Subject(s)
Anti-Bacterial Agents/pharmacology , Clarithromycin/pharmacology , Helicobacter Infections/drug therapy , Helicobacter pylori/drug effects , Adult , Bismuth/therapeutic use , Chile/epidemiology , Cohort Studies , Drug Resistance, Bacterial/drug effects , Female , Helicobacter Infections/epidemiology , Helicobacter Infections/microbiology , Humans , Male , Middle Aged , Prevalence , Prospective Studies
5.
Rev Gastroenterol Mex (Engl Ed) ; 84(4): 427-433, 2019.
Article in English, Spanish | MEDLINE | ID: mdl-30292584

ABSTRACT

INTRODUCTION AND OBJECTIVE: Eosinophilic esophagitis is a chronic, immune-mediated disease described in case series and publications worldwide. Over the past twenty years, the authors of different studies have attempted to evaluate its incidence and prevalence. The objetive of the present study was to estimate the prevalence of eosinophilic esophagitis in a group of children seen at 36 pediatric gastroenterology centers in ten Latin American countries. MATERIALS AND METHODS: A multicenter, observational, and cross-sectional study was conducted that estimated the period prevalence of eosinophilic esophagitis in children seen at outpatient consultation and that underwent diagnostic upper gastrointestinal endoscopy for any indication at 36 centers in 10 Latin American countries, within a 3-month time frame. RESULTS: Between April and June 2016, 108 cases of eosinophilic esophagitis were evaluated. Likewise, an average of 29,253 outpatient consultations and 4,152 diagnostic upper gastrointestinal endoscopies were carried out at the 36 participating centers. The period prevalence of eosinophilic esophagitis in the population studied (n=29,253) was 3.69 cases×1,000 (95% CI: 3.04 to 4.44), and among the children that underwent routine upper gastrointestinal endoscopy (n=4,152), it was 26x1,000 (95% CI: 22.6 to 29.4). CONCLUSIONS: The general period prevalence of eosinophilic esophagitis in a group of children evaluated at 36 Latin American pediatric gastroenterology centers was 3.69×1,000, and in the children that underwent endoscopy, it was 26×1,000. There was important prevalence variability between the participating countries and centers. The present analysis is the first study conducted on the prevalence of pediatric eosinophilic esophagitis in Latin America.


Subject(s)
Eosinophilic Esophagitis/epidemiology , Adolescent , Child , Child, Preschool , Cross-Sectional Studies , Female , Gastroenterology , Hospitals, Special , Humans , Infant , Latin America/epidemiology , Male , Prevalence
6.
Aging Clin Exp Res ; 30(10): 1167-1176, 2018 Oct.
Article in English | MEDLINE | ID: mdl-29380265

ABSTRACT

INTRODUCTION: The performance of activities of daily living in elderly patients with memory disorders is directly related to living independently and to autonomy. Documenting and assessing functional capacity through detailed scales is important for both diagnostic and treatment recommendations. The Everyday Cognition (ECog) scale is a relatively new informant-rated measure of cognitive and functional abilities. In the present study, the discriminant validity of the ECog scale was evaluated in cognitively intact controls (CN) and in patients with mild cognitive impairment (MCI) and mild Alzheimer's disease (AD) from the Argentina-ADNI cohort to establish diagnostic accuracy. In addition, we compared the sensitivity and specificity of ECog against Functional Assessment Questionnaire (FAQ) scale to discriminate among the three groups. METHODS: We evaluated 15 CN, 28 MCI, and 13 mild AD subjects. External, convergent and divergent validity and internal consistency were examined. RESULTS: The average total score on the ECog was significantly different across the three diagnostic syndromes (p < .05). The ECog was more sensitive than FAQ in discriminating between CN and MCI patients and between MCI and AD subjects. The ECog showed a strong correlation with FAQ, and moderate correlations with neuropsychological tests. Cronbach's alpha was .98. CONCLUSIONS: The ECog scale is an efficient instrument for the differentiation of individuals with mild dementia or MCI from normal older adults, with good accuracy and good correlation with other tests measuring daily and cognitive functions. Comparing against FAQ, ECog was more useful in assessing changes in functionality in MCI patients.


Subject(s)
Activities of Daily Living , Cognitive Dysfunction/diagnosis , Dementia/diagnosis , Activities of Daily Living/psychology , Aged , Aged, 80 and over , Argentina , Cohort Studies , Female , Humans , Male , Middle Aged , Neuropsychological Tests/standards , Sensitivity and Specificity , Surveys and Questionnaires
7.
Child Care Health Dev ; 44(2): 319-325, 2018 03.
Article in English | MEDLINE | ID: mdl-28707297

ABSTRACT

BACKGROUND: Most studies on functional gastrointestinal disorders (FGIDs) in children are based on data from the northern hemisphere. Scientific reports are arising in South American population, but little is still known about children from low socio-economic status (SES), where Helicobacter pylori infection is endemic. Our objective was to evaluate the prevalence of FGIDs in school children from low SES and its relationship with H. pylori infection. METHODS: Children from 3 public schools of low SES from Santiago de Chile were included. Students completed the Rome III Questionnaire and a survey about other symptoms. Also, the 13 C urea breath test determined the presence of H. pylori infection. RESULTS: Five hundred six children were included, where 48% were male, with a median age of 15.7 years (range 7.1-19.6). Forty-two percent had some FGID, aerophagia and functional constipation being the most frequent. Females (adjusted OR 1.5, 95% CI [1.1, 2.2]), those children with parents within the lowest level of education (adjusted OR 1.6, 95% CI: 1.1-2.4), and family history of gastric cancer (adjusted OR 1.9, 95% CI: 1.2-3.1) were related to FGIDs. The prevalence of H. pylori infection was 55.9% (95% CI [50.7, 60.9]). In multivariable analysis, the presence of abdominal pain (OR 1.55, 95% CI [1.02, 2.36]), but not FGIDs, was related to H. pylori infection. CONCLUSIONS: FGIDs are common in low SES students. A low educational level of the household head, family history of gastric cancer. and being female are related to the development of FGIDs. In this study, no relationship between the presence of H. pylori and FGIDs was found.


Subject(s)
Gastrointestinal Diseases/microbiology , Helicobacter Infections/complications , Helicobacter pylori , Social Class , Adolescent , Breath Tests/methods , Child , Chile/epidemiology , Cross-Sectional Studies , Educational Status , Female , Gastrointestinal Diseases/epidemiology , Genetic Predisposition to Disease , Helicobacter Infections/diagnosis , Helicobacter Infections/epidemiology , Humans , Male , Prevalence , Risk Factors , Sex Factors , Stomach Neoplasms/epidemiology , Stomach Neoplasms/genetics , Young Adult
8.
Neurocase ; 22(3): 281-4, 2016 06.
Article in English | MEDLINE | ID: mdl-27327087

ABSTRACT

We present a female patient aged 51 who developed behavioral disorders followed by cognitive impairment over 3 years. Neuropsychological, neuropsychiatric, and radiological features suggested a probable behavioral variant of frontotemporal dementia (bvFTD). A family history of amyotrophic lateral sclerosis and parkinsonism suggested the hexanucleotide repeat expansion G4C2 in C9ORF72 . We set up a two-step genotyping algorithm for the detection of the expansion using fragment-length analysis polymerase chain reaction (PCR) and repeat-primed PCR with fluorescent primers. We confirmed the presence of an expanded G4C2 allele in the patient. This represents the first documented case of bvFTD due to a C9ORF72 expansion in Argentina.


Subject(s)
C9orf72 Protein/genetics , Frontotemporal Dementia/genetics , Argentina , DNA Repeat Expansion , Female , Humans , Middle Aged
9.
Mar Environ Res ; 99: 95-105, 2014 Aug.
Article in English | MEDLINE | ID: mdl-24840256

ABSTRACT

Coral reef biota including stony corals, sponges, gorgonians, fish, benthic macroinvertebrates and foraminifera were surveyed in coastal waters near La Parguera, in southwestern Puerto Rico. The goal was to evaluate sensitivity of coral reef biological indicators to human disturbance. Proxies for human disturbance were measured as distance to town (DTT) and rankings of a low-level sediment contamination gradient analyzed from a previous study. Contaminant rank and DTT showed that percent mud, stony coral taxa richness, reef rugosity, and numbers of invertebrates and sponges were higher at sites closer to human disturbance, but a foraminiferal assemblage index was significantly lower at sites with higher proxies for human disturbance. Fish indicators showed no significant relationships with human activity, but associations between fish community measures and certain measures of stony corals, gorgonians and sponges were found. Contrasting responses between foraminifera and reef organisms may be due to greater exposure and sensitivity of foraminifera to sediment contaminants.


Subject(s)
Coral Reefs , Environmental Monitoring/statistics & numerical data , Environmental Pollutants/analysis , Fishes/physiology , Foraminifera/physiology , Geologic Sediments/chemistry , Invertebrates/physiology , Analysis of Variance , Animals , Population Density , Puerto Rico , Species Specificity
10.
Rev Neurol ; 41(9): 527-33, 2005.
Article in Spanish | MEDLINE | ID: mdl-16254859

ABSTRACT

INTRODUCTION: Primary progressive aphasia (PPA) represents a clinical syndrome linked to multiple degenerative diseases. The diagnosis of PPA is made when language is the only area of salient and progressive dysfunction for at least the first two years of the disease. AIM: To evaluate the neuropsychological, neuropsychiatric and language characteristics of the PPA. PATIENTS AND METHODS: 15 patients with PPA underwent language, neuropsychological and neuropsychiatric evaluation, magnetic resonance imaging, computerized tomography and single photon emission computerized tomography. RESULTS: We observed a clear distinction between the oral expression patterns; the patients were classificated by type of aphasia. The most common sign of PPA was a word finding deficit, also known as anomia. Seven aphasia type Broca, four sensorial transcortical aphasia, two aphasia type Wernicke and two anomic aphasia were found in our patients. Depression, apathy, anxiety and irritability were the most prevalent neuropsychiatric sign. CONCLUSIONS: PPA is a language-based syndrome, that include fluent (normal articulation, flow and number of words per utterance) and nonfluent form of aphasia. It has been considered a cognitive term, however, PPA is associated with high prevalence of psychiatric manifestations. More research it will be necessary to evaluate the prognostic value of them. The slow and progressive deterioration of language provides an interesting model to understand the mechanisms and biological bases involved in the linguistic process.


Subject(s)
Aphasia, Primary Progressive/physiopathology , Aged , Aged, 80 and over , Aphasia, Primary Progressive/classification , Aphasia, Primary Progressive/diagnosis , Brain/anatomy & histology , Brain/pathology , Female , Humans , Language , Magnetic Resonance Imaging , Male , Middle Aged , Neuropsychological Tests , Tomography, Emission-Computed, Single-Photon
11.
Syst Parasitol ; 60(3): 159-64, 2005 Mar.
Article in English | MEDLINE | ID: mdl-15864453

ABSTRACT

Gyrodactylus pictae n. sp. is recorded from Poecilia picta in heterospecific shoals with the guppy P. reticulata in Northern Trinidad. G. pictae is morphologically similar to G. turnbulli Harris, 1986, but the hamuli and marginal hooks are slightly smaller and more gracile. The toe and the point of the marginal hook have a distinctly different shape, providing the best morphological characters for distinguishing the two species. The rDNA ITS1 and ITS2 sequences differ from those of G. turnbulli (the closest relative) by >5, suggesting that these two taxa are not sibling species. The origin of the two species on poeciliids of the subgenus Micropoecilia is discussed, and it is suggested that this may represent a case of host-parasite co-evolution.


Subject(s)
Poecilia/parasitology , Trematoda/isolation & purification , Animals , Consensus Sequence , DNA Transposable Elements/genetics , DNA, Helminth/genetics , DNA, Ribosomal/genetics , Molecular Sequence Data , Sequence Homology , Species Specificity , Trematoda/anatomy & histology , Trematoda/genetics , Trinidad and Tobago
12.
World J Gastroenterol ; 11(40): 6366-72, 2005 Oct 28.
Article in English | MEDLINE | ID: mdl-16419167

ABSTRACT

AIM: To establish the most common vacA alleles in Helicobacter pylori (H pylori) strains isolated from Chilean patients and its relationship with gastritis and gastroduodenal ulcers. METHODS: Two hundred and forty five H pylori clinical isolates were obtained from 79 biopsies from Chilean infected patients suffering from gastrointestinal diseases. An average of 2-3 strains per patient was isolated and the vacA genotype was analyzed by PCR and 3% agarose electrophoresis. Some genotypes were checked by DNA sequencing. RESULTS: The most prevalent vacA genotype in Chilean patients was s1b m1 (76%), followed by s1a m1 (21%). In contrast, the s2 m2 genotype was scarcely represented (3%). The s1b m1 genotype was found most frequently linked to gastropathies (P<0.05) rather than ulcers. Ulcers were found more commonly in male and older patients. Curiously, patients living in cities located North and far South of Santiago, the capital and largest Chilean city, carried almost exclusively strains with the s1b m1 genotype. In contrast, patients from Santiago and cities located South of Santiago carried strains with either one or both s1a m1 and s1b m1 genotypes. Regarding the s2 m2 genotype, comparison with GenBank sequences revealed that Chilean s2 sequence was identical to those of Australian, American, and Colombian strains but quite different from those of Alaska and India. CONCLUSION: Differences in geographic distribution of the s and m vacA alleles in Chile and a relationship of s1b m1 genotype with gastritis were found. Sequence data in part support a hispanic origin for the vacA genotype. Asymmetric distribution of genotypes s1b m1 and s2 m2 recedes H Pylori strain distribution in Spain and Portugal.


Subject(s)
Alleles , Bacterial Proteins/genetics , Gastrointestinal Diseases/microbiology , Helicobacter pylori/genetics , Adolescent , Adult , Aged , Amino Acid Sequence , Bacterial Proteins/metabolism , Child , Child, Preschool , Chile , Female , Helicobacter Infections , Humans , Male , Middle Aged , Molecular Sequence Data , Sequence Alignment
13.
Child Care Health Dev ; 30(4): 337-44, 2004 Jul.
Article in English | MEDLINE | ID: mdl-15191424

ABSTRACT

BACKGROUND: To establish the relationship between sleep apnoea and gastro-oesophageal reflux in infants and describe the clinical, demographic and pHmetric profile and the characteristic of the sleep polysomnography with a pH probe. METHODS: A total of 102 consecutive patients were evaluated. Parents were requested to fill out a questionnaire about symptoms and previous therapy. Gastro-oesophageal reflux was considered abnormal when the percentage of time with pH less than 4 was higher than 4% of total sleep time. RESULTS: A total of 102 infants were enrolled, 53% males. Seventy-four per cent of the infants were full-term babies. At the moment of the polysomnography, the mean age of the sample was 2.6 months. Suspicion of apnoea was the most common clinical diagnosis prior to the study. Only two infants have abnormal electroencephalogram. Mild gastro-oesophageal reflux was seen in 37 (36%) infants, while 22 (21.5%) did not have any reflux episode, and the remaining 43 (42%) infants had reflux index in the pathologic range. Only one patient had an unequivocal temporal relationship between acid oesophageal reflux and respiratory pause with oxygen desaturation. DISCUSSION: Infants with history of apnoea or acute life threatening event frequently had gastro-oesophageal reflux episodes which did not correlated with respiratory events, suggesting that gastro-oesophageal reflux and apnoea often occur in the same infant as two separate events.


Subject(s)
Gastroesophageal Reflux/complications , Sleep Apnea Syndromes/complications , Chile , Female , Gastric Acidity Determination , Humans , Hydrogen-Ion Concentration , Infant , Infant, Newborn , Infant, Premature , Male , Parents , Polysomnography , Prospective Studies , Surveys and Questionnaires
14.
Rev. méd. Chile ; 131(10): 1143-1150, oct. 2003.
Article in Spanish | LILACS | ID: lil-355982

ABSTRACT

BACKGROUND: Infant apnea is a common problem that conveys significant burden to families and physicians. Its temporal relationship with gastroesophageal reflux (GER) is controversial. AIM: To establish whether infants with GER of different magnitude have a higher incidence of respiratory events than children without GER. PATIENTS AND METHODS: 146 consecutive patients were evaluated with polisomnography (PSG) and with an esophageal pH probe. Those infants without GER episodes or with an esophageal pH below 4.0 in less than 5 per cent of total sleep time were considered as physiologic GER (Group I), between 5-10 per cent as mild GER (Group II), and over 10 per cent as severe GER (Group III). These groups were evaluated for demographic and polysomnographic characteristics. RESULTS: There were no differences in the demographic and global PSG characteristics neither in oxymetry, heart rate or electroencephalographic abnormalities. Group III infants had a higher percentage of active sleep compared to infants of Group I (p < 0.05) and higher incidence of central pauses and apneas compared to infants of Group I (p < 0.05). CONCLUSIONS: The presence of severe GER may modify the sleep pattern in infants, increasing the percentage of active sleep. The presence of central pauses and apneas in infants with severe GER suggest an association between the inmaturity of the respiratory centers and the adaptation of the anti-reflux mechanisms.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Gastroesophageal Reflux/physiopathology , Respiration Disorders/physiopathology , Sleep Wake Disorders/physiopathology , Polysomnography , Apnea/etiology , Apnea/physiopathology , Hydrogen-Ion Concentration , Prospective Studies , Gastroesophageal Reflux/complications , Respiration Disorders/etiology , Sleep Wake Disorders/etiology
15.
Acta Paediatr ; 91(1): 39-44, 2002.
Article in English | MEDLINE | ID: mdl-11883816

ABSTRACT

UNLABELLED: Chile has one of the highest rates of gastric cancer in the world and most children and adolescents in the country are colonized by Helicobacter pylori. This study assessed the nature and extent of the gastric lesions in 73 consecutive patients aged 5-17 y, referred for upper gastrointestinal endoscopy. Their H. pylori-associated gastric pathology was characterized and these data were compared with their sociodemographic status. Endoscopic assessment was normal in 43 patients while in 30 there was a variety of mucosal lesions. Sixty patients (83%) had histological chronic gastritis of the antrum and in 45 (63%) the lesions also involved the gastric corpus; 90% of patients with chronic gastritis were colonized by H. pylori. Although most of these patients had epithelial erosions and dedifferentiation of the pit epithelium, atrophy and metaplasia were not found. Patients' socioeconomic status was inversely correlated with their rate of colonization by H. pylori (p < 0.005), the frequency of gastric lesions on endoscopy (p < 0.01) and the frequency of involvement of antral and corpus mucosa by chronic gastritis (p < 0.002). This latter feature was positively correlated with age (p < 0.001). CONCLUSION: This study shows a high frequency of extensive lesions of H. pylori-associated chronic gastritis in young Chilean patients. This histological picture is consistent with the hypothesis of a H. pylori-associated progressive gastric pathology which may represent a major factor in the high local rate of gastric cancer.


Subject(s)
Gastric Mucosa/pathology , Gastritis/epidemiology , Gastritis/pathology , Helicobacter Infections/diagnosis , Helicobacter Infections/epidemiology , Helicobacter pylori/isolation & purification , Adolescent , Age Distribution , Biopsy, Needle , Child , Child, Preschool , Chile/epidemiology , Chronic Disease , Female , Gastric Mucosa/microbiology , Gastritis/microbiology , Gastroscopy , Humans , Male , Prevalence , Probability , Prospective Studies , Risk Factors , Severity of Illness Index , Sex Distribution
16.
Rev Med Chil ; 129(8): 841-7, 2001 Aug.
Article in Spanish | MEDLINE | ID: mdl-11680956

ABSTRACT

BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene, that codes for a chloride channel located in the apical surface of epithelial cells. The main role of this protein is the regulation of chloride transport, and secondarily, of sodium and water to the extracellular space. More than 900 gene mutations have been described, and their relative frequency in different populations depends on their ethnic origin. AIM: To report the findings of Chilean patients with cystic fibrosis, in whom the presence of 20 common mutations was analyzed. PATIENTS AND METHODS: Fifty seven patients with established diagnosis or suspicion of CF were studied. The simultaneous identification of 20 mutations and the normal delta F508 allele was done using polymerase chain reactions with a commercial assay. RESULTS: Eight mutations were found. Fifty patients fulfilled diagnostic criteria proposed by the Consensus Panel of the CF Foundation and 66% of alleles were identified in this group. delta F508 mutation was found in 45%. We did not identify mutations in any of the remaining 7 patients. CONCLUSIONS: Our results suggest that the majority of undetected mutations are associated with atypical phenotypes or that some patients in this series could have other diseases. We recommend to include mutation analysis in the evaluation of Chilean patients with CF. It is useful to establish prognosis and genetic counselling.


Subject(s)
Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/genetics , Mutation , Adolescent , Adult , Child , Child, Preschool , Chile , Female , Genotype , Humans , Infant , Infant, Newborn , Male , Middle Aged , Multicenter Studies as Topic , Polymerase Chain Reaction
17.
J Pediatr Gastroenterol Nutr ; 33(2): 127-32, 2001 Aug.
Article in English | MEDLINE | ID: mdl-11568511

ABSTRACT

BACKGROUND: Helicobacter pyloriinfection of the gastric mucosa in humans is usually acquired early in life. The chronic inflammation that ensues involves the increased production of inflammatory cytokines. Published data on production of these mediators by gastric mucosa of H. pylori-infected children are few. METHODS: Seventy-nine children, aged 5 to 18 years, referred for upper gastrointestinal endoscopy to four separate hospitals in Chile, were studied. The concentrations of interleukin (IL)-1beta, IL-6, IL-8, and tumor necrosis factor alpha were measured in homogenates of gastric mucosal biopsy specimens. Cytokine expression was confirmed by reverse transcription polymerase chain reaction. These data were correlated with the patients' clinical, histologic and sociodemographic status. RESULTS: Patient rate of colonization by H. pylori was inversely correlated with socioeconomic status (P < 0.005) and positively correlated with age (P < 0.0025). In gastric mucosa, concentrations of IL-1beta, IL-8, and tumor necrosis factor alpha were all significantly higher in H. pylori-positive patients than in H. pylori-negative patients and in patients who had histologic gastritis than in those with normal gastric mucosa. In patients with peptic ulcer disease, only IL-1beta and IL-8 concentrations were significantly elevated when compared with those of patients without ulcers. Interleukin-6 concentrations were comparable among the different groups analyzed. CONCLUSIONS: This study suggests that increased gastric mucosal production of the proinflammatory cytokines IL-1beta and IL-8 is probably involved in H. pylori-associated gastric damage in children and may be crucial in determining the different clinical outcomes.


Subject(s)
Gastric Mucosa/microbiology , Gastritis/immunology , Gastritis/microbiology , Helicobacter Infections/immunology , Helicobacter Infections/microbiology , Helicobacter pylori/immunology , Adolescent , Age Factors , Biopsy , Child , Child, Preschool , Endoscopy , Female , Gastric Mucosa/immunology , Gastric Mucosa/pathology , Gastritis/pathology , Helicobacter Infections/pathology , Humans , Interleukin-1/biosynthesis , Interleukin-1/metabolism , Interleukin-6/biosynthesis , Interleukin-6/metabolism , Interleukin-8/biosynthesis , Interleukin-8/metabolism , Male , Peptic Ulcer/immunology , Peptic Ulcer/microbiology , Peptic Ulcer/pathology , Reverse Transcriptase Polymerase Chain Reaction , Social Class , Tumor Necrosis Factor-alpha/biosynthesis , Tumor Necrosis Factor-alpha/metabolism
18.
Proc Natl Acad Sci U S A ; 98(3): 1182-7, 2001 Jan 30.
Article in English | MEDLINE | ID: mdl-11252306

ABSTRACT

Defects in polycystin-2, a ubiquitous transmembrane glycoprotein of unknown function, is a major cause of autosomal dominant polycystic kidney disease (ADPKD), whose manifestation entails the development of fluid-filled cysts in target organs. Here, we demonstrate that polycystin-2 is present in term human syncytiotrophoblast, where it behaves as a nonselective cation channel. Lipid bilayer reconstitution of polycystin-2-positive human syncytiotrophoblast apical membranes displayed a nonselective cation channel with multiple subconductance states, and a high perm-selectivity to Ca2+. This channel was inhibited by anti-polycystin-2 antibody, Ca2+, La3+, Gd3+, and the diuretic amiloride. Channel function by polycystin-2 was confirmed by patch-clamping experiments of polycystin-2 heterologously infected Sf9 insect cells. Further, purified insect cell-derived recombinant polycystin-2 and in vitro translated human polycystin-2 had similar ion channel activity. The polycystin-2 channel may be associated with fluid accumulation and/or ion transport regulation in target epithelia, including placenta. Dysregulation of this channel provides a mechanism for the onset and progression of ADPKD.


Subject(s)
Calcium Channels/genetics , Membrane Proteins/genetics , Mutation , Polycystic Kidney, Autosomal Dominant/genetics , Animals , Antibodies/pharmacology , Calcium/pharmacology , Calcium Channels/drug effects , Calcium Channels/physiology , Cell Line , Cell Membrane/physiology , Female , Gadolinium/pharmacology , Humans , Lanthanum/pharmacology , Membrane Potentials/drug effects , Membrane Potentials/physiology , Membrane Proteins/drug effects , Membrane Proteins/physiology , Placenta/physiology , Pregnancy , Protein Biosynthesis , Recombinant Proteins/drug effects , Recombinant Proteins/metabolism , Reverse Transcriptase Polymerase Chain Reaction , Spodoptera , TRPP Cation Channels , Transfection , Trophoblasts/physiology
19.
Rev Neurol ; 33(7): 624-7, 2001.
Article in Spanish | MEDLINE | ID: mdl-11784949

ABSTRACT

INTRODUCTION: The Boston Naming Test (BNT) is the most frequently used test of confrontation naming. Due to its length, several abbreviated forms have been proposed. OBJECTIVE: The aim of the study was to develop a short form for the Spanish version of the BNT that could detect early semantic changes in Alzheimer s disease (AD). PATIENTS AND METHODS: One hundred and three patients with diagnosis of probable AD (NINCDS ADRDA criteria), with GDS< 5 and 143 normal subjects, matched for age and education, were studied. Subjects with <4 years of education were excluded. No subject had any history of neurological of psychiatric disorders or alcohol abuse. All participants underwent a comprehensive neuropsychological assessment which included the 60 item Spanish version of the BNT. The sensibility and specificity of each item and demographic effect s variability were calculated (ANOVA). Those 12 figures with the highest sensibility and specificity which showed no significant educational or age variation were administered to all participants. The Spearman correlation coefficient was used. RESULTS: Mean score for the control group was 11 (standard deviation: 1.16). No significant effects for age (r= 0.14574) or education (r= 0.101293) were found. The sensibility and specificity for correctly diagnosing AD was 85% and 94% respectively, similar to the longest version. CONCLUSION: This 12 item version of the BNT can be a useful instrument for a rapid screening of AD, as it is as sensible and specific as the 60 item version, and it is not influenced by age or education.


Subject(s)
Alzheimer Disease/diagnosis , Neuropsychological Tests , Aged , Aged, 80 and over , Alzheimer Disease/physiopathology , Analysis of Variance , Humans , Middle Aged , Neuropsychological Tests/standards , Sensitivity and Specificity , Statistics as Topic
20.
Vertex ; 12(46): 268-71, 2001 Dec.
Article in Spanish | MEDLINE | ID: mdl-11780151

ABSTRACT

Memory assessment is used to diagnose possible disturbances of this function and to relate the findings to their neurological implications and to the issues of clinical treatment and prognosis. Neuropsychological examination of memory function involves (a) the administration of objective procedures that are proven sensitive to the effects of brain injury, and specific to the changes due to functional impairment, and (b) the integration of statistical and observational findings that demonstrate a consistent pattern of results that are commonly seen with specific brain disorders. Analysis of the pattern of performance among the tests is key to a good understanding of the results; thus, the selection of tests used should sample a wide range of memory domains. This paper analyzes the most frequently measuring instruments in neuropsychological assessment of memory, as well as the main batteries and tests used to evaluate the existence or absence of mnesic deficits.


Subject(s)
Memory Disorders/diagnosis , Neuropsychological Tests , Humans , Semantics
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