Inferior Turbinate Reduction during Rhinoplasty: Is There Any Effect on Rhinitis Symptoms?

Abstract Introduction Inferior turbinate surgery is often performed concomitantly with rhinoseptoplasty. As inferior turbinates play a major role in allergic rhinitis, it seems reasonable to suggest that inferior turbinate surgery reduces allergy. Objective To assess the impact of nasal turbinate surgery on non-obstructive allergic symptoms (nasal discharge, sneezing, pruritus, and allergic conjunctivitis) and on the use of allergic medication in patients with allergic rhinitis undergoing rhinoseptoplasty. Methods Secondary analysis of aggregated data from two randomized controlled trials. Participants with allergic rhinitis aged 2: 16 years were recruited. Data from two groups were analyzed: patients with rhinoseptoplasty and concomitant turbinate reduction (intervention group) and patients with rhinoseptoplasty only (control group). The 90-day postoperative frequency of non-obstructive allergic symptoms and of nasal steroid and oral antihistamine use were analyzed. Results A total of 100 patients were studied. The groups were similar in terms of allergic symptom intensity and mean age. The frequency of non-obstructive allergic symptoms decreased 90 days postoperative in both groups (p < 0.01). There was no difference between the groups in the frequency of non-obstructive allergic symptoms at 90 days (p = 0.835). Topical nasal steroid and oral histamine antagonist use decreased in the intervention group at 90 days (p < 0.05). Conclusions Ninety days after the surgery, turbinate reduction performed in association with rhinoseptoplasty did not reduce the frequency of non-obstructive allergic symptoms more than rhinoplasty alone. However, the observed decrease in nasal steroid and oral antihistamine use suggests an impact of turbinate reduction on medication use in patients with allergic rhinitis undergoing rhinoseptoplasty. Trial Registration ClinicalTrials.gov database (NCT01457638 and NCT02231216).

Inferior Turbinate Reduction during Rhinoplasty: Is There Any Effect on Rhinitis Symptoms?

Introduction Inferior turbinate surgery is often performed concomitantly with rhinoseptoplasty. As inferior turbinates play a major role in allergic rhinitis, it seems reasonable to suggest that inferior turbinate surgery reduces allergy. Objective To assess the impact of nasal turbinate surgery on non-obstructive allergic symptoms (nasal discharge, sneezing, pruritus, and allergic conjunctivitis) and on the use of allergic medication in patients with allergic rhinitis undergoing rhinoseptoplasty. Methods Secondary analysis of aggregated data from two randomized controlled trials. Participants with allergic rhinitis aged ≥ 16 years were recruited. Data from two groups were analyzed: patients with rhinoseptoplasty and concomitant turbinate reduction (intervention group) and patients with rhinoseptoplasty only (control group). The 90-day postoperative frequency of non-obstructive allergic symptoms and of nasal steroid and oral antihistamine use were analyzed. Results A total of 100 patients were studied. The groups were similar in terms of allergic symptom intensity and mean age. The frequency of non-obstructive allergic symptoms decreased 90 days postoperative in both groups ( p < 0.01). There was no difference between the groups in the frequency of non-obstructive allergic symptoms at 90 days ( p = 0.835). Topical nasal steroid and oral histamine antagonist use decreased in the intervention group at 90 days ( p < 0.05). Conclusions Ninety days after the surgery, turbinate reduction performed in association with rhinoseptoplasty did not reduce the frequency of non-obstructive allergic symptoms more than rhinoplasty alone. However, the observed decrease in nasal steroid and oral antihistamine use suggests an impact of turbinate reduction on medication use in patients with allergic rhinitis undergoing rhinoseptoplasty. Trial Registration ClinicalTrials.gov database (NCT01457638 and NCT02231216).

Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation / Perfil clínico e molecular de recém-nascidos com suspeita ou confirmação de hiperplasia adrenal congênita após a implementação de um programa público de triagem neonatal

Abstract Objective: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. Methods: A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. Results: After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-hydroxyprogesterone levels were found in classical congenital adrenal hyperplasia patients and showed significant correlation with genotype-related classical genital adrenal hyperplasia. The most frequent mutations were IVS2-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical and heterozygous diseases, p.Val282Leu was the most common mutation. Conclusions: The results underscore the effectiveness of congenital adrenal hyperplasia neonatal screening in the public health system and indicate that the adopted strategy was appropriate. The second sample collection along with genotyping of suspected cases helped to properly diagnose both severe and milder cases and delineate them from false positive patients.

Resumo Objetivo: Descrever os resultados obtidos em um programa de triagem neonatal após sua implementação e avaliar os perfis clínicos e moleculares de casos confirmados e suspeitos de hiperplasia adrenal congênita. Métodos: Foi feito um estudo transversal. Recém-nascidos com suspeita da doença devido aos altos níveis de 17-alfa-hidroxiprogesterona e ajustados pelo peso ao nascer foram selecionados. A hiperplasia adrenal congênita clássica (forma perdedora de sal e forma virilizante simples) foi diagnosticada por um aumento nos níveis de 17-alfa-hidroxiprogesterona confirmado no reteste, avaliação clínica e genótipo determinado com o uso do ensaio SNaPshot e amplificação multiplex de sondas dependente de ligação. Resultados: Após 24 meses, 15 casos clássicos de hiperplasia adrenal congênita foram diagnosticados em 217.965 recém-nascidos, com uma incidência estimada de 1:14.531. De 132 pacientes, sete não clássicos e 14 heterozigotos foram submetidos à triagem para mutações no gene CYP21A2 e 96 pacientes apresentaram resultados falso-positivos com CYP21A2 do tipo selvagem. No reteste, níveis aumentados de 17-alfa-hidroxiprogesterona foram encontrados em pacientes com hiperplasia adrenal congênita clássica e mostraram correlação significativa com HAC clássica relacionada ao genótipo. As mutações mais frequentes foram IVS2-13A/C>G, seguidas de deleção gênica ou eventos de rearranjo na forma clássica. Em casos de doenças não clássicas e heterozigose, a mutação p.Val282Leu foi a mais comum. Conclusões: Os resultados ressaltam a eficácia da triagem neonatal para a hiperplasia adrenal congênita no sistema público de saúde e indicam que a estratégia adotada foi adequada. A segunda coleta de amostras, juntamente com a genotipagem dos casos suspeitos, ajudou a diagnosticar adequadamente os casos graves e mais leves e diferenciá-los de pacientes com resultado falso-positivo.

The effects of old and recent migration waves in the distribution of HBB*S globin gene haplotypes.

Sickle cell hemoglobin is the result of a mutation at the sixth amino acid position of the beta (ß) globin chain. The HBB*S gene is in linkage disequilibrium with five main haplotypes in the ß-globin-like gene cluster named according to their ethnic and geographic origins: Bantu (CAR), Benin (BEN), Senegal (SEN), Cameroon (CAM) and Arabian-Indian (ARAB). These haplotypes demonstrated that the sickle cell mutation arose independently at least five times in human history. The distribution of ßS haplotypes among Brazilian populations showed a predominance of the CAR haplotype. American populations were clustered in two groups defined by CAR or BEN haplotype frequencies. This scenario is compatible with historical records about the slave trade in the Americas. When all world populations where the sickle cell gene occurs were analyzed, three clusters were disclosed based on CAR, BEN or ARAB haplotype predominance. These patterns may change in the next decades due to recent migrations waves. Since these haplotypes show different clinical characteristics, these recent migrations events raise the necessity to develop optimized public health programs for sickle cell disease screening and management.

18F-FDG PET/CT, cytoreductive surgery and intraperitoneal chemohyperthermia for the therapeutic management in peritoneal carcinomatosis: a pilot study / 18F-FDG PET/TC, cirugía citorreductora y quimiohipertermia intraperitoneal para el tratamiento terapéutico de la carcinomatosis peritoneal: estudio piloto

Aim. Peritoneal carcinomatosis is a common evolution of neoplasms and the terminal stage of disease. A new therapeutic technique, based on the total surgical removal of peritoneal lesions (peritonectomy procedure - PP) combined with the intraperitoneal chemohyperthermia (IPCH), has been developed. Proper patient selection is mandatory for optimizing the results of treatment. The aim of this study was to investigate the role of [(18)F]fluoro-2-deoxy-d-glucose Positron Emission Tomography/Computed Tomography (18F-FDG PET/CT) in patients with peritoneal carcinosis selected to undergo PP and IPCH. Furthermore, we aimed to identify characteristic patterns of abdominal18F-FDG uptake and to correlate these patterns with available anatomic findings after surgery. Methods. Patients with either histologically confirmed peritoneal carcinosis or suspected upon clinical follow-up and/or imaging findings were prospectively submitted to pre-surgery 18F-FDG PET/CT scan. Only those patients without evidence of extra-peritoneal metastases at PET/CT scan were treated with PP and IPCH. Results. 11 patients with peritoneal carcinomatosis (5 colorectal, 4 ovarian, 1 pancreatic) and 1 unknown primitive cancer, were eligible for the study. In all cases PET/CT scan showed multiple peritoneal implants. In 6 out of 11 cases (54%) metastases were evidenced by 18F-FDG PET/CT: 2 cases with liver metastases; 1 case with bone metastases; 3 patients with lymph-node lesions. Two distinct imaging patterns, with focal or diffuse increased 18F-FDG uptake, were recognized. Conclusions. PP + IPCH of patients selected by 18F-FDG PET/CT seems to be safe and feasible. PET/CT scan appears as a reliable tool for the detection, characterization of peritoneal implants with potential impact in the therapeutic management of these patients (AU)

Objetivo. La carcinomatosis peritoneal es una evolución común de las neoplasias y constituye el estadio terminal de la enfermedad. Se ha desarrollado una nueva técnica, basada en la extirpación quirúrgica de las lesiones peritoneales (procedimiento de peritonectomía - PP), combinada con quimiohipertermia intraperitoneal (IPCH). La adecuada selección de los pacientes es primordial, a fin de optimizar los resultados del tratamiento. El objetivo de este estudio fue investigar el papel de la tomografía de emisión de positrones con [(18)F]fluoro-2-deoxy-d-glucosa/tomografía computarizada (18F-FDG PET/TC) en pacientes con carcinomatosis peritoneal, seleccionados para someterse a PP e IPCH. Además, tratamos de identificar los patrones característicos de la captación abdominal de 18F-FDG y correlacionar dichos patrones con los hallazgos anatómicos disponibles tras la cirugía. Métodos. Se realizaron exámenes 18F-FDG PET/TC de manera prospectiva, y previamente a la cirugía, a los pacientes con carcinomatosis peritoneal histológicamente confirmada, o sospechada mediante seguimiento clínico y/o hallazgos de imagen. Solo puede tratarse con PP y IPCH a aquellos pacientes que no reflejen evidencia de metástasis extraperitoneales en los exámenes PET/TC. Resultados. Se seleccionó para el estudio a 11 pacientes con carcinomatosis peritoneal (5 colorrectales, 4 ováricas, una pancreática) y un cáncer primitivo desconocido. En todos los casos, el examen PET/TC reflejó múltiples implantes peritoneales. En 6 de los 11 casos (54%) las metástasis fueron evidenciadas mediante 18F-FDG PET/TC: 2 casos con metástasis hepáticas, un caso con metástasis óseas, y 3 pacientes con lesiones ganglionares. Se reconocieron 2 patrones de imagen distintos, con aumento de captación focal o difusa de 18F-FDG. Conclusiones. La combinación PP + IPCH de los pacientes seleccionados mediante 18F-FDG PET/TC parece ser una técnica segura y factible. La PET/TC se revela como una herramienta fiable para la detección y caracterización de los implantes peritoneales, con un impacto potencial sobre el tratamiento terapéutico de dichos pacientes (AU)

High Frequency of Hb E-Saskatoon (HBB: c.67G > A) in Brazilians: A New Genetic Origin?

Hb E-Saskatoon [ß22(B4)Glu→Lys, HBB: c.67G > A] is a rare, nonpathological ß-globin variant that was first described in a Canadian woman of Scottish and Dutch ancestry and has since then been detected in several populations. The aim of the present study was to identify the origin of Hb E-Saskatoon in Brazil using ß-globin haplotypes and genetic ancestry in carriers of this hemoglobin (Hb) variant. Blood samples were investigated by isoelectric focusing (IEF) and high performance liquid chromatography (HPLC) using commercial kits. Hb E-Saskatoon was confirmed by amplification of the HBB gene, followed by sequence analysis. Haplotypes of the ß-globin gene were determined by polymerase chain reaction (PCR), followed by digestion with specific restriction enzymes. Individual ancestry was estimated with 48 biallelic insertion/deletions using three 16-plex PCR amplifications. The IEF pattern was similar to Hbs C (HBB: c.19G > A) and Hb E (HBB: c.79G > A) [isoelectric point (pI): 7.59-7.65], and HPLC results showed an elution in the Hb S (HBB: c.20A > T) window [retention time (RT): 4.26-4.38]. DNA sequencing of the amplified ß-globin gene showed a mutation at codon 22 (GAA>AAA) corresponding to Hb E-Saskatoon. A total of 11 cases of this variant were identified. In nine unrelated individuals, Hb E-Saskatoon was in linkage disequilibrium with haplotype 2 [+ - - - -]. All subjects showed a high degree of European contribution (mean = 0.85). Hb E-Saskatoon occurred on the ß-globin gene of haplotype 2 in all Brazilian carriers. These findings suggest a different genetic origin for this Hb variant from that previously described.

Effects of 200cH medications on mice bone marrow cells and macrophages / Effects of 200cH medications on mice bone marrow cells and macrophages

Paracelsus once wrote: "All things are poison and nothing is without poison, only the dose permits something not to be poisonous." Latter Hahnemann formulated the law of similars, preparations which cause certain symptoms in healthy individuals if given in diluted form to patients exhibiting similar symptoms will cure it. Highly diluted natural complexes prepared according to Hahnemann?s ancient techniques may represent a new form of immunomodulatory therapy. The lack of scientific research with highly diluted products led us to investigate the in vivo and in vitro actions of commonly used medications. Here we describe the results of experimental studies aimed at verifying the effects of Mercurius solubilis, Atropa Belladonna, Lachesis muta and Bryonia alba. All medications were at 200cH dilution. Animals were maintained for 7 days and were allowed to drink the medications, which were prepared in a way that the final dilution and agitation (200cH) was performed in drinking water. The medication bottle was changed and sucussed every afternoon. Coculture of non treated mice bone marrow cells and in vitro treated peritoneal macrophages were also performed. After animal treatment the bone marrow cells were immunophenotyped with hematopoietic lineage markers on a flow cytometer. We have determined CD11b levels on bone marrow cells after culture and co-culture with treated macrophages and these macrophages were processed to scanning electron microscopy. We have observed by morphological changes that macrophages were activated after all treatments. Mercurius solubilis treated mice showed an increase in CD3 expression and in CD11b on nonadherent bone marrow cells after co-culture with in vitro treatment. Atropa Belladonna increased CD45R and decreased Ly-6G expression on bone marrow cells after animal treatment. Lachesis muta increased CD3, CD45R and, CD11c expression and decreased CD11b ex vivo and in nonadherent cells from co-culture. Bryonia alba increased Ly-6G, CD11c and CD11b expression ex vivo and when in co-culture CD11b was increased in adherent cells as well as decreased in nonadherent cells. With these results we have demonstrated that highly diluted medications act on immune cells activating macrophages, and changing the expression profile of hematopoietic lineage markers. Highly diluted medications are less toxic and cheaper than other commonly used medications and based on our observations, it is therefore conceivable that this medications which are able to act on bone marrow and immune cells may have a potential therapeutic use in clinical applications in diseases were the immune system is affected and also as regenerative medicine as it may allow proliferation and differentiation of progenitor cells. (AU)

Effects of 200cH medications on mice bone marrow cells and macrophages. / Effects of 200cH medications on mice bone marrow cells and macrophages.

Paracelsus once wrote: "All things are poison and nothing is without poison, only the dose permits something not to be poisonous." Latter Hahnemann formulated the law of similars, preparations which cause certain symptoms in healthy individuals if given in diluted form to patients exhibiting similar symptoms will cure it. Highly diluted natural complexes prepared according to Hahnemann?s ancient techniques may represent a new form of immunomodulatory therapy. The lack of scientific research with highly diluted products led us to investigate the in vivo and in vitro actions of commonly used medications. Here we describe the results of experimental studies aimed at verifying the effects of Mercurius solubilis, Atropa Belladonna, Lachesis muta and Bryonia alba. All medications were at 200cH dilution. Animals were maintained for 7 days and were allowed to drink the medications, which were prepared in a way that the final dilution and agitation (200cH) was performed in drinking water. The medication bottle was changed and sucussed every afternoon. Coculture of non treated mice bone marrow cells and in vitro treated peritoneal macrophages were also performed. After animal treatment the bone marrow cells were immunophenotyped with hematopoietic lineage markers on a flow cytometer. We have determined CD11b levels on bone marrow cells after culture and co-culture with treated macrophages and these macrophages were processed to scanning electron microscopy. We have observed by morphological changes that macrophages were activated after all treatments. Mercurius solubilis treated mice showed an increase in CD3 expression and in CD11b on nonadherent bone marrow cells after co-culture with in vitro treatment. Atropa Belladonna increased CD45R and decreased Ly-6G expression on bone marrow cells after animal treatment. Lachesis muta increased CD3, CD45R and, CD11c expression and decreased CD11b ex vivo and in nonadherent cells from co-culture. Bryonia alba increased Ly-6G, CD11c and CD11b expression ex vivo and when in co-culture CD11b was increased in adherent cells as well as decreased in nonadherent cells. With these results we have demonstrated that highly diluted medications act on immune cells activating macrophages, and changing the expression profile of hematopoietic lineage markers. Highly diluted medications are less toxic and cheaper than other commonly used medications and based on our observations, it is therefore conceivable that this medications which are able to act on bone marrow and immune cells may have a potential therapeutic use in clinical applications in diseases were the immune system is affected and also as regenerative medicine as it may allow proliferation and differentiation of progenitor cells.

Prevalence of common α -thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia

Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one individuals had microcytic anemia (MCV < 80 fL) and a normal hemoglobin pattern (Hb A2 < 3.5 percent and Hb F < 1 percent). The subjects were screened for -α3.7,-α4.2,-α20.5, -SEA and -MED deletions but only the -α3.7 allele was detected. The -α3.7 allele frequency in Brazilians of European and African ancestry was 0.02 and 0.12, respectively, whereas in individuals with microcytosis the frequency was 0.20. The prevalence of α-thalassemia was significantly higher in individuals with microcytosis than in healthy individuals (p = 0.001), regardless of their ethnic origin. There were also significant differences in the hematological parameters of individuals with -α3.7/αα, -α3.7/α3.7 and β-thalassemia trait compared to healthy subjects. These data suggest that α-thalassemia is an important cause of microcytosis and mild anemia in Brazilians.

Transtorno factício: um desafio para as diversas especialidades / Factitious disease: a challenge to several specialities

O transtorno factício caracteriza-se por produção de sintomas por parte do paciente de forma intencional, com o intuito de assumir o papel de paciente. É uma doença de gravesimplicações clínicas e que gera elevados gastos para o sistema de saúde público. O caso da paciente DLK, ilustrado nesse relato, exemplifica bem esse transtorno. A paciente iniciou suas queixas clínicas com alucinações visuais e um quadro delirante. Com o tempo surgiram queixasde dores abdominais, retenção urinária, fraqueza muscular e um quadro psicótico de difícil resolução...

In factitious disease there is an intentional production of symptoms by the patient, with the intent of being sick in front of others. It is a disease with serious clinical implications and these patients represent a enormous waste of money to public health. The case of DLKexemplifies it. The complaints of the patient began with delusions and visual hallucinations. She developed abdominal pains, urinary retention, weakness and psychotic symptoms of difficultmanagement. She had gone to several hospitals, submitted to many exams and a laparoscopy, all with frustrating results. There was a progressive and important improvement by theestablishment of a positive relation with the patient and reduction of her medications...

Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in patients from the southern Brazilian city of Porto Alegre, RS

Glucose-6-phosphate dehydrogenase (G6PDH; EC 1.1.1.49) deficiency is one of the most common human enzymopathies throughout the world. Although most affected individuals are asymptomatic, there is a risk of neonatal jaundice and acute hemolytic anemia which can be triggered by infection, some pharmaceuticals and, in older individuals, eating fava beans. We characterized the molecular basis of G6PDH deficiency in a sample of 348 adults from Porto Alegre (population about 1.5 million), the capital of the southernmost Brazilian state of Rio Grande do Sul. Genomic DNA was extracted from peripheral blood leukocytes. We studied the three G6PDH mutations that appear to be the most frequent in Southern Brazil, the G202A and A376G A minus (A-) variants and the C563T Mediterranean (Med) variant. From July 2004 to October 2005, 348 patients (162 Females plus 186 males, age range 0 to 82 years) from Porto Alegre were referred to our laboratory for G6PDH analysis, 36 (9.7 percent) of which showed deficient G6PDH activity. These 36 patients and 34 randomly-selected non-deficient control individuals were submitted to molecular analysis which revealed a predominance of G6PDH A- allele among the deficient patients. The prevalence of the G6PDH A- variant agrees with its distribution among the ethnic groups that colonized RS, especially those of African, Portuguese, Spanish, and Italian origin.

Diagnóstico laboratorial das leucemias mielóides agudas / Laboratory diagnosis of acute myeloid leukemias

As leucemias agudas caracterizam-se pela proliferação clonal e pelo bloqueio maturativo das células hematopoéticas, com substituição difusa da medula óssea por células neoplásicas. A leucemia mielóide aguda (LMA) é um grupo heterogêneo de doenças clonais do tecido hematopoético, que acomete predominantemente idosos acima de 60 anos de idade. A LMA apresenta oito subtipos distintos morfologicamente: LMA M0 a M7. Os métodos diagnósticos para identificação da LMA e classificação dos subtipos são baseados em critérios morfológicos, citoquímicos e de imunofenotipagem, acrescidos de análise genética. Além de ser importante para a diferenciação do tipo da linhagem da leucemia, se mielóide (LMA) ou linfóide (LLA), o diagnóstico é também de grande importância para identificar a leucemia bifenotípica aguda (BAL). O objetivo deste trabalho foi realizar uma revisão bibliográfica sobre LMA, dando ênfase aos métodos laboratoriais utilizados para a sua identificação e diferenciação.