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1.
Clin Ter ; 173(6): 590-596, 2022.
Article in English | MEDLINE | ID: mdl-36373460

ABSTRACT

Background: Nasal vestibulitis (NV) and nasal vestibular furunculosis (NVF) are two infectious processes of the nasal vestibule, sharing common etiology, the same risk of complications, and similar treatment while remaining two different pathological entities. Methods: We performed a comprehensive literature research on NV and NVF in PubMed, Cochrane, and Google Scholar databases, with the aim to review the evidence on these two conditions and discuss the therapeutic approaches. Results: We identified a total of 248 records; according to our inclusion/exclusion criteria, 27 of them, published over a period of 59 years (1962-2021), were included in this review. Conclusion: NV and NVF are reported to be common conditions, with well-known etiological agents and risk factors. The diagnosis is clinical and topical antibiotics are the mainstay of treatment. Complications appear to be infrequent. Further studies are necessary to clarify the pathogenetic mechanisms and the exact prevalence of both conditions.


Subject(s)
Furunculosis , Animals , Humans , Furunculosis/therapy , Furunculosis/drug therapy , Anti-Bacterial Agents/therapeutic use
2.
Eur Rev Med Pharmacol Sci ; 26(4): 1350-1363, 2022 Feb.
Article in English | MEDLINE | ID: mdl-35253191

ABSTRACT

OBJECTIVE: The aim of this study was to identify features mainly involved in determining the partial response (PR) to the Electrochemotherapy (ECT) in patients with recurrent and/or metastatic head and neck (H&N) tumor; the identified features were also used in a decision chart in order to provide the clinician with a support tool in deciding further therapies. PATIENTS AND METHODS: 131 patients (186 treatment sessions) with recurrent and/or metastatic H&N neoplasm were subjected to ECT. Treatment response was evaluated based on Response Evaluation Criteria in Solid Tumors (RECIST) v. 1.1 two months after the ECT. The grade of bleeding and pain before, at the end and one week after ECT treatment were evaluated. Univariate and multivariate analysis were performed to identify features involved in determining the patient PR. RESULTS: In the context of the univariate analysis, tumor size significantly influenced the response to ECT, with higher PR rate of 58.3%: 28 among 48 patients with lesion size ≤ 3 centimeters (p-value < 0.001 at Chi-square test). Pain and bleeding pre-treatment were positively correlated to PR (p-value < 0.001 at Chi-square test). A difference in the current flowing in the tissue during treatment was also observed in partially responsive patients, where the median current value (6.6 A) was higher than that achieved in patients that did not show PR (3.3 A). In the context of the multivariate analysis, the best performances are achieved with the BART method (accuracy of 84%). The main clinical factors to predict the partial response, among investigated features, that have shown to be considered were the pain value felt before performing the treatment and the median current delivered during the ECT treatment. A decision-making support tool to predict the patient prognosis in terms of response rate could be represented by the decision tree obtained with CART algorithm, where a pain pre-treatment more than 5 and a median delivered current not less than 2.8 A led to the prediction a partial responsive patient with an accuracy of 75%. CONCLUSIONS: The study confirmed that ECT is an interesting antitumoral therapy in advanced chemo- and radio-refractory H&N neoplasms, able to reduce frequent symptoms and to improve the quality of life. Pain pre-treatment and delivered current are the most important variables when predicting the partial response of patients.


Subject(s)
Electrochemotherapy , Head and Neck Neoplasms , Skin Neoplasms , Bleomycin/adverse effects , Electrochemotherapy/adverse effects , Head and Neck Neoplasms/drug therapy , Humans , Pain/drug therapy , Palliative Care/methods , Quality of Life , Skin Neoplasms/drug therapy , Treatment Outcome
3.
J Laryngol Otol ; 135(5): 436-441, 2021 May.
Article in English | MEDLINE | ID: mdl-33888166

ABSTRACT

BACKGROUND: The long-term recovery rate for coronavirus disease 2019 related chemosensory disturbances has not yet been clarified. METHODS: Olfactory and gustatory functions were assessed with psychophysical tests in patients in the first seven days from coronavirus disease 2019 onset and one, two, three and six months after the first evaluation. RESULTS: A total of 300 patients completed the study. The improvement in olfactory function was significant at the two-month follow up. At the end of the observation period, 27 per cent of the patients still experienced a persistent olfactory disturbance, including anosmia in 5 per cent of cases. As for taste, the improvement in the psychophysical scores was significant only between the baseline and the 30-day control. At the 6-month evaluation, 10 per cent of the patients presented with a persistent gustatory disturbance with an incidence of complete ageusia of 1 per cent. CONCLUSION: Six months after the onset of coronavirus disease 2019, about 6 per cent of patients still had a severe persistent olfactory or gustatory disturbance.


Subject(s)
COVID-19/complications , Olfaction Disorders/etiology , Psychophysics/methods , Recovery of Function/physiology , Taste Disorders/etiology , Adult , Ageusia/epidemiology , Anosmia/epidemiology , COVID-19/diagnosis , COVID-19/psychology , COVID-19/virology , Female , Follow-Up Studies , Humans , Incidence , Italy/epidemiology , Male , Middle Aged , Olfaction Disorders/diagnosis , Prospective Studies , SARS-CoV-2/isolation & purification , Smell/physiology , Taste/physiology , Taste Disorders/diagnosis
4.
J Laryngol Otol ; 134(8): 703-709, 2020 Aug.
Article in English | MEDLINE | ID: mdl-32782030

ABSTRACT

BACKGROUND: The long-term recovery rate of chemosensitive functions in coronavirus disease 2019 patients has not yet been determined. METHOD: A multicentre prospective study on 138 coronavirus disease 2019 patients was conducted. Olfactory and gustatory functions were prospectively evaluated for 60 days. RESULTS: Within the first 4 days of coronavirus disease 2019, 84.8 per cent of patients had chemosensitive dysfunction that gradually improved over the observation period. The most significant increase in chemosensitive scores occurred in the first 10 days for taste and between 10 and 20 days for smell. At the end of the observation period (60 days after symptom onset), 7.2 per cent of the patients still had severe dysfunctions. The risk of developing a long-lasting disorder becomes significant at 10 days for taste (odds ratio = 40.2, 95 per cent confidence interval = 2.204-733.2, p = 0.013) and 20 days for smell (odds ratio = 58.5, 95 per cent confidence interval = 3.278-1043.5, p = 0.005). CONCLUSION: Chemosensitive disturbances persisted in 7.2 per cent of patients 60 days after clinical onset. Specific therapies should be initiated in patients with severe olfactory and gustatory disturbances 20 days after disease onset.


Subject(s)
Coronavirus Infections/complications , Pneumonia, Viral/complications , Smell/physiology , Taste/physiology , Adult , Betacoronavirus/isolation & purification , COVID-19 , Coronavirus Infections/epidemiology , Coronavirus Infections/therapy , Coronavirus Infections/virology , Female , Humans , Italy/epidemiology , Male , Middle Aged , Olfaction Disorders/diagnosis , Olfaction Disorders/etiology , Olfaction Disorders/virology , Pandemics , Pneumonia, Viral/epidemiology , Pneumonia, Viral/therapy , Pneumonia, Viral/virology , Prospective Studies , Recovery of Function , SARS-CoV-2 , Smell/drug effects , Taste/drug effects , Taste Disorders/diagnosis , Taste Disorders/etiology , Taste Disorders/virology
5.
J Laryngol Otol ; 134(7): 571-576, 2020 Jul.
Article in English | MEDLINE | ID: mdl-32605666

ABSTRACT

BACKGROUND: An objective evaluation of coronavirus disease 2019 in the first days of infection is almost impossible, as affected individuals are generally in home quarantine, and there is limited accessibility for the operator who should perform the test. To overcome this limitation, a recently validated psychophysical self-administered test was used, which can be performed remotely in the assessment of early-stage coronavirus disease 2019 patients. METHODS: Olfactory and gustatory functions were objectively assessed in 300 patients in the first 7 days from coronavirus disease 2019 symptom onset. RESULTS: Seventy per cent of the patients presented olfactory and/or gustatory disorders. The dysfunctions detected were mainly complete anosmia (47 per cent) or ageusia (38 per cent). A significant correlation was found between taste dysfunction and female gender (odds ratio = 1.936, p = 0.014) and fever (odds ratio = 2.132, p = 0.003). CONCLUSION: The psychophysical evaluation protocol proposed is an effective tool for the fast and objective evaluation of patients in the early stages of coronavirus disease 2019. Chemosensitive disorders have been confirmed to be frequent and early symptoms of the coronavirus infection, and, in a significant number of cases, they are the first or only manifestation of coronavirus disease 2019.


Subject(s)
Coronavirus Infections/physiopathology , Diagnostic Self Evaluation , Diagnostic Techniques and Procedures , Olfaction Disorders/diagnosis , Pneumonia, Viral/physiopathology , Taste Disorders/diagnosis , Telemedicine , Acetic Acid , Adult , Betacoronavirus , COVID-19 , Chocolate , Coffee , Drug Combinations , Female , Fruit and Vegetable Juices , Household Products , Humans , Italy , Logistic Models , Male , Middle Aged , Mouthwashes , Olfaction Disorders/physiopathology , Pandemics , Plant Extracts , SARS-CoV-2 , Self Report , Sensory Thresholds , Sex Factors , Soaps , Spices , Taste Disorders/physiopathology , Taste Threshold , Terpenes , Toothpastes , Wine
6.
Clin Ter ; 171(3): e268-e274, 2020.
Article in English | MEDLINE | ID: mdl-32323717

ABSTRACT

Head and neck squamous cell carcinoma (HNSCC) is the sixth most common malignancy worldwide, accounting for approximately 6% of all cancer cases and responsible for an estimated 1-2% of all cancer deaths. Much research evidence has accumulated in the recent years on the changes in the expression of pro-inflammatory and, to a lesser extent, anti-inflammatory cytokines, that (i) may have a role in the malignant transformation of HNSCC, (ii) may be used as diagnostic markers in the sera of patients because of their excessive production by the tumor cells and (iii) may act as possible immunotherapeutic targets. Among pro-inflammatory cytokines, interleukin-8 (IL--8) has been reported to have an important role in cancer invasion, angiogenesis and metastasis. Recent studies have shown an increased concentration of IL--8 in patients with HNSCC and a positive association with lymph node metastasis and tumor classification, although IL--8 was not significantly associated with shorter overall survival and cancer progression-free survival. Additional evidence on the pathological mechanism of origin, invasion, and metastasis of HNSCC, as well as a better understanding of the implications of cytokines, chemokines and growth factors, are of paramount importance for the advancement of research in head and neck oncology.


Subject(s)
Cytokines/metabolism , Head and Neck Neoplasms/metabolism , Squamous Cell Carcinoma of Head and Neck/metabolism , Humans , Interleukin-8/metabolism , Lymphatic Metastasis
7.
Clin Otolaryngol ; 43(2): 483-488, 2018 04.
Article in English | MEDLINE | ID: mdl-28981208

ABSTRACT

OBJECTIVES: The aim of this study was to demonstrate in a prospective multicentre study that Barbed Reposition Pharyngoplasty (BRP) procedure is safe and effective in management of obstructive sleep apnoea/hypopnea syndrome (OSAHS) patients. DESIGN: Prospective study. SETTING: Multicentre study. PARTICIPANTS: Patients suffering from obstructive sleep apnoea. MAIN OUTCOMES MEASURES: Values of postoperative apnoea-hypopnea index (AHI), oxygen desaturation index (ODI), epworth sleepiness scale (ESS). RESULTS: 111 Barbed Reposition Pharyngoplasty procedures standing alone or as a part of multilevel surgery for OSAHS, performed between January and September 2016, were analysed in 15 different centres. The average hospitalisation period was 2.5 ± 0.5 days. The mean patient age was 46.3 ± 10.5 years. The average body mass index at the time of the procedure was 27.9 ± 3.2, and the majority of the patients were men (83%). The mean preoperative and postoperative apnoea/hypopnea index was 33.4 ± 19.5 and 13.5 ± 10.3, respectively (P < .001). The mean preoperative and postoperative ESS score was 10.2 ± 4.5 and 6.1 ± 3.6, respectively (P < .001). The mean preoperative and postoperative ODI were 29.6 ± 20.7 and 12.7 ± 10.8, respectively (P < .001). CONCLUSIONS: Patients undergoing BRP standing alone or as part of a multilevel approach for the treatment of OSAHS have a reasonable expectation for success with minimal morbidity.


Subject(s)
Pharynx/surgery , Sleep Apnea, Obstructive/surgery , Adult , Body Mass Index , Female , Humans , Length of Stay , Male , Middle Aged , Prospective Studies , Treatment Outcome
10.
Eur Rev Med Pharmacol Sci ; 21(4): 669-673, 2017 02.
Article in English | MEDLINE | ID: mdl-28272718

ABSTRACT

OBJECTIVE: The purpose of our study was to compare Merocel (Merocel Hemox 10 cm) and BNP (biodegradable nasopore) during a septoturbinoplasty procedure in terms of efficiency and patient comfort. PATIENTS AND METHODS: We carried out a retrospective review of 72 patients who had undergone septoturbinoplasty between January 2015 and January 2016. Each group, packed with BNP or Merocel Hemox 10 cm was composed of 36 patients. A standard visual analogue scale ranging from zero (no symptoms) to 10 (the most severe symptoms) was used to assess subjective symptoms. To compare the usefulness of materials we evaluated the postoperative bleeding, infection and adhesion after the removal of packing with and endoscopic examination using a 5-point scale (zero, absent; 1, mild; 2, moderate; 3, severe; and 4, very severe). Secretions and crusts were evaluated 1 week and 4 weeks after surgery in both groups using a 5-point scale (zero, absent; 1, mild; 2, moderate; 3, severe; and 4, very severe). RESULTS: A total of 72 patients were enrolled in the study, 45 women and 27 men; age range 15-78 with a mean age of 47 years. In the group A (Merocel group), 21 cases showed grade 1 bleeding (58%), 11 cases grade 2 (30%) and 4 patients grade 0 (11.1%). In the group B (BNP group), 29 cases showed grade 0 bleeding (80.56%) and 7 cases showed grade 1 bleeding (19.44%). There was a statistical significant difference between the Merocel group and the BNP group in terms of bleeding after removal of packing material (p < 0.05). In the group A, 16 patients developed mild adhesion (44%), 8 patients moderate adhesion (22.2%), 3 patients severe adhesion (8.33%) and 1 patient very severe adhesion (2.77%). BNP nasal packing didn't cause any adhesion in 25 patients (69.4%), 11 patients developed mild adhesion (30.5%). So there was a statistical significant difference between group A and group B regarding the adhesion (p < 0.05). There was a statistically significance reduction of nasal secretions and crusts at a week after surgery in the BNP group vs. Merocel group. The difference is not statistically significant 4 weeks after surgery. About the severity of symptoms related to nasal packing, we found a statistically significant difference (p < 0.05) between Merocel and BNP group regarding the pain during packing removal, the general satisfaction and the pressure. CONCLUSIONS: Biodegradable nasopore reduced pain and patient discomfort during packing removal and causes less bleeding compared to Merocel hemox 10 cm. This type of material can be used after septoturbinolplasty.


Subject(s)
Formaldehyde/therapeutic use , Hemostatics/therapeutic use , Nasal Septum/surgery , Polyvinyl Alcohol/therapeutic use , Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Retrospective Studies , Tissue Adhesions/prevention & control , Young Adult
11.
Cytopathology ; 28(4): 273-279, 2017 Aug.
Article in English | MEDLINE | ID: mdl-28217943

ABSTRACT

BACKGROUND: Fine needle cytology (FNC) of a parathyroid neoplasia (PN) is reliable, but needs to be confirmed by Parathormone (PTH) and Thyroglobulin (TG) immunoassay on needle washing or by immunocytochemistry (ICC) evaluation. The differentiation between parathyroid adenoma (PA), atypical adenoma (PAA) and carcinoma (PC) is difficult on histology or even impossible on FNC. The aim of this study was to evaluate possible cytological criteria to classify FNC-PN further. METHODS: Twenty-three FNC samples of PN and parathyroid cysts were rather then have been reviewed. The series includes 18 PNs, 4 cysts and 1 Thyr3B (histologically diagnosed as PA). Cytological features were: cellularity, patterns (follicular, solid or papillary), clear, oncocytic, isolated cells, nuclear atypia, cytoplasmic inclusions, nucleoli and mitoses. Data were compared with the histological controls. RESULTS: Seventeen PNs, 2 cysts and 1 Thyr3B FNC samples were histologically diagnosed as PA (16), PAA (2) and PC (2). Two cysts and 1 PN were not confirmed histologically. Cytological features and incidences were: high cellularity (1 PA, 1 PAA, 2 PCs), follicular (8 PAs, 1 PAA), solid (5 PAs, 1 PC), papillary pattern (1PA, 1 PAA, 1 PC), clear cells (4 PAs, 1 PAA, 2 PCs), oncocytic cells (6 PAs, 1 PAA, 2 PCs), isolated cells (5 PAs, 2 PAAs, 2 PCs), nuclear atypia (2 PAs, 1 PAA, 2 PCs), cytoplasmic inclusions (4 PAs, 2 PCs), nucleoli (2 PCs) and mitoses (2 PCs). CONCLUSION: Evident nucleoli and mitoses may suggest the differentiation between PA and PC. However, further investigations are required to confirm these preliminary observations.


Subject(s)
Parathyroid Glands/pathology , Parathyroid Neoplasms/diagnosis , Parathyroid Neoplasms/surgery , Biopsy, Fine-Needle , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Parathyroid Neoplasms/pathology
13.
Pharmacogenomics J ; 16(6): 559-565, 2016 11.
Article in English | MEDLINE | ID: mdl-26503810

ABSTRACT

N-acetyltransferase 2 (NAT2) is responsible for metabolizing xenobiotics; NAT2 polymorphisms lead to three phenotypes: rapid, intermediate and slow acetylators. We aimed to investigate NAT2 diversity in Native Americans. NAT2 exon 2 was sequenced for 286 individuals from 21 populations (Native American and American Mestizos). Excluding the basal/rapid haplotype NAT2*4, the most frequent haplotypes are NAT2*5B (35.95%) in hunter-gatherers and NAT2*7B (20.61%) and NAT2*5B (19.08%) in agriculturalists that were related to the slow phenotype. A new haplotype was identified in two Amerindians. Data from the ~44 kb region surrounding NAT2 in 819 individuals from Africa, East-Asia, Europe and America were used in additional analyses. No significant differences in the acetylator NAT2 haplotype and phenotype distributions were found between Native American populations practicing farming and/or herding and those practicing hunting and gathering, probably because of the absence or weakness of selection pressures and presence of demographic and random processes preventing detection of any selection signal.


Subject(s)
American Indian or Alaska Native/genetics , Arylamine N-Acetyltransferase/genetics , Evolution, Molecular , Genetic Variation , Acetylation , Agriculture , Americas , Animals , Arylamine N-Acetyltransferase/metabolism , Diet/ethnology , Feeding Behavior/ethnology , Gene Frequency , Haplotypes , Humans , Kinetics , Phenotype , Predatory Behavior , Xenobiotics/metabolism
14.
Eur Rev Med Pharmacol Sci ; 19(10): 1796-802, 2015 May.
Article in English | MEDLINE | ID: mdl-26044223

ABSTRACT

OBJECTIVE: Osteomas are benign tumors that frequently affect the cranio-facial region, especially the temporal bones, jaw and sinus. This lesion very rarely involves the maxillary bones. The aim of our study is to describe our surgical case series and to evaluate the diagnosis and management of peripheral craniofacial osteomas with a review of the literature. PATIENTS AND METHODS: We retrospectively analyzed a series of 14 patients that underwent surgery for the removal of a cranio-facial osteoma, 10 cases were peripheral osteoma of the lower jaw and 4 were peripheral osteomas of the upper jaw. The 14 patients included 8 females and 6 males, with a mean age of 42 years. The median follow up period was 48 months. RESULTS: All patients received a total surgical removal and we did not have any intraoperative complications with optimal cosmetic and functional results. Pain resolved in all cases and a single case postoperative dysesthesia occurred. NO recurrence has been detected at last follow-up visit. CONCLUSIONS: Osteomas must be well identified and differentiated from other solid diseases of the bone and should be treated if symptomatic. The elective treatment is surgical removal, resulting in a complete resolution of the pathology.


Subject(s)
Facial Bones/pathology , Facial Bones/surgery , Osteoma/diagnosis , Osteoma/surgery , Adolescent , Adult , Child , Female , Follow-Up Studies , Humans , Male , Middle Aged , Retrospective Studies
15.
Acta Otorhinolaryngol Ital ; 35(1): 58-61, 2015 Feb.
Article in English | MEDLINE | ID: mdl-26015654

ABSTRACT

Mucoepidermoid carcinoma (MEC) is the most common malignant, locally-invasive tumour of the salivary glands, and accounts for approximately 35% of all malignancies of the major and minor salivary gland. Minor salivary glands are scattered in different areas of the oral cavity such as palate, retromolar area, floor of the mouth, buccal mucosa, lips and tongue. MECs of tongue base are not common. We present a rare case of MEC localised at the tongue base in a 42-year-old Caucasian woman and discuss the histopathological types, management and review the literature. Adequate intra-oral excision was the treatment of choice in this case and in low-grade MEC. Prognosis of MEC is a function of the histological grade, adequacy of excision and clinical staging.


Subject(s)
Carcinoma, Mucoepidermoid , Tongue Neoplasms , Adult , Carcinoma, Mucoepidermoid/pathology , Carcinoma, Mucoepidermoid/surgery , Female , Humans , Tongue Neoplasms/pathology , Tongue Neoplasms/surgery
17.
Tissue Antigens ; 84(5): 479-83, 2014 Nov.
Article in English | MEDLINE | ID: mdl-25329634

ABSTRACT

The human leukocyte antigen (HLA) system has a major role in the regulation of the immune response as it is involved in the defense against pathogens. Evidence for association with tuberculosis (TB) is more consistent for class II than for class I HLA genes. TB is important among indigenous peoples in South America, not only because of its historical role in regional depopulation, but also because it is still widespread. The aim of this study was to evaluate the association of HLA class II alleles, haplotypes and genotypes and tuberculin skin test response (TST) in 76 individuals of the Aché population. Poisson Regression was employed to assess risk genotypes. DRB1*04, DQA1*03 and DQB1*03:02 were associated with TST response in this population.


Subject(s)
Alleles , HLA-DR4 Antigen/genetics , Haplotypes , Indians, South American , Tuberculosis/genetics , Brazil , Female , HLA-DQ alpha-Chains/genetics , HLA-DQ beta-Chains/genetics , HLA-DRB1 Chains/genetics , Humans , Male , Tuberculin Test
18.
Int J Tuberc Lung Dis ; 18(8): 952-7, 2014 Aug.
Article in English | MEDLINE | ID: mdl-25199010

ABSTRACT

SETTING: Cytokines play an important role in anti-tuberculosis immune response, combined with antigen-presenting cells and lymphocytes. Immune response gene polymorphisms have been reported to be associated with tuberculosis (TB) susceptibility in some but not all studies. OBJECTIVE: To evaluate the association of immune response genes with susceptibility to tuberculin skin test (TST) reactivity and/or TB. DESIGN: Fourteen single nucleotide polymorphisms were genotyped in 96 individuals of the Aché, a native Paraguayan population, by allelic discrimination using real-time polymerase chain reaction. Univariate and multivariate Poisson regression were employed to assess risk genotypes. RESULTS: A higher prevalence of purified protein derivative reactivity was associated with the TNF-α CCA/TCG haplotype (PR 1.298, 95%CI 1.059-1.589) and with the IL-10 AT/CC diplotype (PR 1.181, 95% CI 1.024-1.362), and the presence of the IL-8 rs4073 T allele was associated with protection against TB (PR 0.482, 95%CI 0.273-0.851). CONCLUSIONS: These results suggest that polymorphisms in genes associated with immune response are involved in TST reactivity and susceptibility to TB in the Aché population.


Subject(s)
Interleukin-10/genetics , Interleukin-8/genetics , Tuberculosis/epidemiology , Tumor Necrosis Factor-alpha/genetics , Adult , Case-Control Studies , Female , Genetic Predisposition to Disease , Genotype , Humans , Indians, South American/genetics , Male , Middle Aged , Multivariate Analysis , Paraguay , Poisson Distribution , Polymorphism, Single Nucleotide , Real-Time Polymerase Chain Reaction , Regression Analysis , Tuberculin Test , Tuberculosis/genetics , Tuberculosis/immunology , Young Adult
19.
Tissue Antigens ; 82(3): 177-85, 2013 Sep.
Article in English | MEDLINE | ID: mdl-24032724

ABSTRACT

Native American populations generally have a higher prevalence of infectious diseases than non-Native populations and this fact can induce different pressures in their immune system. We investigated the patterns of population differentiation (FST ) of 32 polymorphisms related to adaptive immune response in four Native American populations (Aché, Guarani-Kaiowá, Guarani-Ñandeva and Kaingang), and the results were compared with the three major world population data [Yoruba of Ibadan, Nigeria (YRI), Utah residents with northern and Western Europe ancestry (CEU) and Han Chinese of Beijing, China (CHB)] available in the HapMap database. The Aché clearly differentiated from the other Amerindians, but when all Native Americans were compared with the samples of other ethnic groups the lowest difference (0.08) was found with CHB (Asians), the second lowest (0.15) with YRI (Africans) and the most marked with CEU (European-derived). The considerable intra and interethnic differences found can be explained both in terms of diverse evolutionary distances and more recent environmental pathogen exposures; and they should be appropriately considered prior to any specific public health action.


Subject(s)
Cytokines/genetics , Immunity, Innate , Indians, South American , Polymorphism, Single Nucleotide , Population Dynamics , Asian People , Biological Evolution , Black People , Brazil/ethnology , Cytokines/immunology , Databases, Genetic , HapMap Project , Humans , Minor Histocompatibility Antigens , Nuclear Proteins/genetics , Nuclear Proteins/immunology , Phylogeography , Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics , Protein Tyrosine Phosphatase, Non-Receptor Type 22/immunology , Receptors, Calcitriol/genetics , Receptors, Calcitriol/immunology , Receptors, Purinergic P2X7/genetics , Receptors, Purinergic P2X7/immunology , White People
20.
Haemophilia ; 19(5): 773-81, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23711237

ABSTRACT

A total of 76 unrelated male patients with mild (n = 55) or moderate (n = 21) haemophilia A living in the southern Brazilian state of Rio Grande do Sul were studied by direct sequencing of all F8 26 exons, the 5' UTR and 3' UTR, intron-exon junctions and the promoter region. When no mutation was found, a multiplex ligation-dependent probe amplification analysis was performed. We identified the disease-causing mutations in 69 patients, who showed 33 different mutations: 27 missense, one small deletion, two small duplications and three splice site mutations. Seven missense and two splice site mutations were not previously reported in HAMSTeRS and were not identified in any current literature search. Nine recurrent mutations were found, one of them never described before (p.Tyr1786Phe). Haplotype analysis indicated that this mutation had originated in the Brazilian population as a single event in a common ancestor. The possible influence of these mutations in the determination of the disease was carefully considered, including bioinformatic tools. These data add to the general knowledge of the disease and can also be useful for HA diagnosis and detection of carriers in the southern Brazilian population.


Subject(s)
Factor VIII/genetics , Hemophilia A/genetics , Hemophilia A/pathology , Mutation , 3' Untranslated Regions , 5' Untranslated Regions , Adolescent , Adult , Aged , Brazil , Child , Child, Preschool , Exons , Genotype , Haplotypes , Hemophilia A/drug therapy , Humans , Infant , Introns , Male , Middle Aged , Pathology, Molecular , Phenotype , Young Adult
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