Osmotin1 is involved in rice resistance to Schizotetranychus oryzae (Acari: Tetranychidae) infestation.

BACKGROUND: Rice is one of the most consumed cereals in the world. Productivity losses are caused by different biotic stresses. One of the most common is the phytophagous mite Schizotetranychus oryzae Rossi de Simons (Acari: Tetranychidae), which inhibits plant development and seed production. The identification of plant defense proteins is important for a better understanding of the mite-plant interaction. We previously detected a high expression of Osmotin1 protein in mite-resistant rice cultivars, under infested conditions, suggesting it could be involved in plant defense against mite attack. We therefore aimed to evaluate the responses of three rice lines overexpressing Osmotin1 (OSM1-OE) and three lines lacking the Osmotin1 gene (osm1-ko) to mite attack. RESULTS: The numbers of individuals (adults, immature stages, and eggs) were significantly lower in OSM1-OE lines than those in wild-type (WT) plants. On the other hand, the osm1-ko lines showed larger numbers of mites per leaf than WT plants. When plants reached the full maturity stage, two out of the three infested OSM1-OE lines presented lower plant height than WT, while the three osm1-ko lines (infested or not) presented higher plant height than WT. The reduction in seed number caused by mite infestation was lower in OSM1-OE lines (12-19%) than in WT plants (34%), while osm1-ko lines presented higher reduction (24-54%) in seed number than WT plants (13%). CONCLUSION: These data suggest that Osmotin1 is involved in rice resistance to S. oryzae infestation. This is the first work showing increased plant resistance to herbivory overexpressing an Osmotin gene. © 2023 Society of Chemical Industry.

Urban sewage sludge stabilization by alkalization-composting-vermicomposting process: Crop-livestock residue use.

Waste management practices are vital for human health and the environment in a world where natural resources stress is expected to increase with the growth of population. Our study aimed to evaluate the potential use of crop-livestock residue as a bulking agent associated with the ideal level of hydrated lime for the stabilization and sanitization of urban sewage sludge through the alkalization-composting process. Therefore, we determined the alkalization efficiency on the heavy metal concentration in urban sewage sludge, quantified the viable eggs of helminths in pure and alkalized sludge, and measured the rate of earthworms (Eisenia fetida) surviving in the vermicomposting process using different levels of alkalized urban sewage sludge associated with crop-livestock residue. Four sequential trials were carried out in a completely randomized design with three replicates. The lime alkalization reduced the levels of Ba, As, Pb, Cu, Cr, Mo, Ni, and Zn compared to the pure urban sewage sludge. Using 30% w/w of lime in the urban sewage sludge (SS-30) for composting process reduced the viable helminth eggs by 71, 72, and 69% for sugarcane bagasse (Saccharum officinarum; SB), fresh chopped Napier-grass (Pennisetum purpureum; NG), and bovine ruminal content (BR), respectively. The ideal level of hydrated lime for stabilization and sanitization of urban sewage sludge was found to be 30%, which was able to reduce the heavy metals. The residues have the potential as a bulking agent for the composting of urban sewage sludge when associated with alkalization. The lime alkalization decreases the total number of helminth eggs and the number of viable eggs. The possibility of starting a vermicomposting using the mixtures is promising, evidenced by the earthworm survival in composting urban sewage sludge mixed with crop-livestock residues after 45 days of composting. The earthworm survival is maintained by an association of at least 80% of the crop-livestock residues.

An Exploratory Survey on the Care for Ataxic Patients in the American Continents and the Caribbean.

Little is known about access of rare disease carriers to health care. To increase this knowledge, the Pan American Hereditary Ataxia Network (PAHAN) conducted an exploratory survey about care for hereditary ataxias in American continents and the Caribbean. A questionnaire was sent to health professionals about the hereditary ataxias identified; access to care; and local teaching and research. The number of ataxics under current care per 100,000 inhabitants was subtracted from the expected overall prevalence of 6/100,000, to estimate the prevalence of uncovered ataxic patients. Local Human Development Indexes (HDI) were used to measure socio-economic factors. Twenty-six sites participated. Twelve sites had very high, 13 had high, and one site had medium HDI. Participants reported on 2239 and 602 patients with spinocerebellar ataxias and recessive forms under current care. The number of patients under current care per inhabitants varied between 0.14 and 12/100,000. The estimated prevalence of uncovered ataxic patients was inversely proportional to HDIs (rho = 0.665, p = 0.003). Access to diagnosis, pre-symptomatic tests, and rehabilitation were associated with HDIs. More and better molecular diagnostic tools, protocols and guidelines, and professional training for ataxia care were the top priorities common to all respondents. Evidence of inequalities was confirmed. Lower HDIs were associated with high potential numbers of uncovered ataxic subjects, and with lack of molecular diagnosis, pre-symptomatic testing, and rehabilitation. More and better diagnostic tools, guidelines, and professional training were priorities to all sites. PAHAN consortium might help with the last two tasks.

Pain perception genes, asthma, and oral health: A reverse genetics study.

Pain is an experience of a subjective nature, interpreted in a personal way and according to an extensive palette of factors unique to each individual. Orofacial pain can be acute or chronic and it is usually the main reason for the patient to seek dental care. Pain perception varies widely among individuals. This variability is considered a mosaic of factors, which include biopsychosocial factors and genetic factors. Understanding these differences can be extremely beneficial for pain management in a personalized and more efficient way. We performed association studies to investigate phenotypes associated with genetic markers in pain-related genes in two groups of patients who received more or less anesthesia during dental treatment. The study group was comprised of 1289 individuals participating in the Dental Registry and DNA Repository Project (DRDR) of the University of Pittsburgh, with 900 participants in the group that received the most anesthesia and 389 constituting the comparison group that received less anesthesia. We tested 58 phenotypes and genotypic data of seven SNPs in genes that are associated with pain perception, pain modulation and response to drugs used in pain treatment: COMT (rs4818 and rs6269), GCH1 (rs3783641), DRD2 (rs6276), OPRM1 (rs1799971), SCN9A (rs6746030) and SCN10A (rs6795970). The analysis revealed a protective effect of rs1799971 on asthma in the total sample. rs3783641 was associated with salivary secretion disorders in females who received more anesthesia. rs1799971 was also associated with periodontitis in Whites who received less anesthesia. rs4818 was associated with disease and other tongue conditions in the group composed of Blacks who received less anesthesia. In conclusion, our study implicated variants in pain-related genes in asthma and oral phenotypes.

Mathematical models to identify high-performance players for the Brazilian under-19 men's volleyball team.

The objective of this study was to identify parameters that best discriminate between selected and non-selected players for the Brazilian under-19 men's volleyball team and propose mathematical models to identify high-performance players. To this end, 18 selected (16.89±0.96 years) and 138 non-selected (16.91±0.74 years) players for the under-19 team were assessed for the training profile, anthropometric profile, and physical performance level. The discriminant function analysis was used to build the models, with a significance of α<0.05. The spike jump reach showed a greater correlation with the discriminant scores obtained in the two models (r=0.701; r=0.782). The 10 variables included in Model 1 helped identify 88.9% of the players selected in their group of origin; Model 2 - obtained by the spike jump reach and duration of playing experience - identified 83.3% of the players selected. Therefore, coaches should be aware that differences between the selected and non-selected players are multi-factorial, with the spike jump reach being the most relevant assessment factor. Furthermore, good players for the selection can be identified using the two models: Model 1 promises greater success with ten assessments, whereas Model 2 allows the identification of suitable players for the under-19 men's volleyball team with only two simple assessments.

The Cardiovascular Health Integrated Lifestyle Diet (CHILD) Lowers LDL-Cholesterol Levels in Brazilian Dyslipidemic Pediatric Patients.

OBJECTIVE: To analyze the impact of the CHILD-2 diet on the lipid profile of Brazilian children and adolescents with dyslipidemia. METHODS: This is a quasi-experimental study, where 149 participants (5-17 years) with mild-to-moderate hypercholesterolemia were divided into two groups (GI: low or normal weight; n = 58 and GII: overweight; n = 91). Both groups underwent the CHILD-2 diet, characterized by 25-30% total fat and less than 7% of low-saturated fat (SF) for 6 months. Changes from baseline in the lipid profile, including Total cholesterol (TC), LDL-C, triacylglycerols and glucose concentrations, dietary and anthropometric data were examined at 3 and 6 months. Longitudinal analyses were performed using linear mixed-effects models in SAS. RESULTS: Serum LDL-C concentrations reduced over time compared with baseline (Δ = -5.1 mg/dL; p < 0.01), with no difference between groups (p = 0.35). TC concentrations decreased by -2.0 mg/dL (p < 0.01); but no difference was observed between groups. We found no significant changes in body mass index/age Z scores after a dietary intervention compared with baseline in both groups (p = 0.94). CONCLUSION: Despite the modest reduction, our findings confirm that children with dyslipidemia can benefit from the CHILD-2 diet combined with a healthy lifestyle.

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.

Holoprosencephaly (HPE) is the failure of the embryonic forebrain to develop into 2 hemispheres promoting midline cerebral and facial defects. The wide phenotypic variability and causal heterogeneity make genetic counseling difficult. Heterozygous variants with incomplete penetrance and variable expressivity in the SHH, SIX3, ZIC2, and TGIF1 genes explain ∼25% of the known causes of nonchromosomal HPE. We studied these 4 genes and clinically described 27 Latin American families presenting with nonchromosomal HPE. Three new SHH variants and a third known SIX3 likely pathogenic variant found by Sanger sequencing explained 15% of our cases. Genotype-phenotype correlation in these 4 families and published families with identical or similar driver gene, mutated domain, conservation of residue in other species, and the type of variant explain the pathogenicity but not the phenotypic variability. Nine patients, including 2 with SHH pathogenic variants, presented benign variants of the SHH, SIX3, ZIC2, and TGIF1 genes with potential alteration of splicing, a causal proposition in need of further studies. Finding more families with the same SIX3 variant may allow further identification of genetic or environmental modifiers explaining its variable phenotypic expression.

Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.

BACKGROUND: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme ß-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history and clinical spectrum. METHODS: We conducted a case series report which included retrospective data from all MPS VII patients diagnosed through the "MPS Brazil Network" who were known to be alive in 2020 in Brazil (N = 13). Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. RESULTS: The majority of the patients were from the Northeast region of Brazil. Among the signs and symptoms that raised the clinical suspicion of MPS, coarse face was the most frequent; 58% of the patients had a history of non-immune hydrops fetalis. All the subjects presented short neck and trunk. The majority presented typical phenotypical signs of MPS disorders. They all presented neurodevelopmental delay and cognitive impairment. About half of this cohort had knees deformities. Dysostosis multiplex was identified in almost all patients and cardiomyopathy was less frequent than observed in other types of MPSs. The mean age at diagnosis was 5 years, ranging from 1 to 14 years. Almost all patients (12/13) were homozygous for the c.526C>T (p.Leu176Phe) mutation. A novel variant of the GUSB gene was found, the c.875T>C (p.Leu292Pro), in a compound heterozygous with the c.526C>T (p.Leu176Phe) variant. CONCLUSIONS: This case series is the biggest data collection of MPS VII patients alive in Latin America. The overall clinical picture of the MPS VII patients is very similar to other MPS disorders, including a spectrum of severity and delayed diagnosis.

Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.

Mucopolysaccharidosis type II (MPS II) is an X-linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate-2-sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most times includes cognitive decline. MPS II has wide allelic and clinical heterogeneity and a complex genotype-phenotype correlation. We evaluated data from 501 Brazilian patients diagnosed with MPS II from 1982 to 2020. We genotyped 280 of these patients (55.9%), which were assigned to 206 different families. Point mutations were present in 70% of our patients, being missense variants the most frequent. We correlated the IDS pathogenic variants identified with the phenotype (neuronophatic or non-neuronopathic). Except for two half-brothers, there was no discordance in the genotype-phenotype correlation among family members, nor among MPS II patients from different families with the same single base-pair substitution variant. Mothers were carriers in 82.0% of the cases. This comprehensive study of the molecular profile of the MPS II cases in Brazil sheds light on the genotype-phenotype correlation and helps the better understanding of the disease and the prediction of its clinical course, enabling the provision of a more refined genetic counseling to the affected families.

Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.

Phenylketonuria (PKU) is a common inborn error of amino acid metabolism in which the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine, is functionally impaired due to pathogenic variants in the PAH gene. Thirty-four Brazilian patients with a biochemical diagnosis of PKU, from 33 unrelated families, were analyzed through next-generation sequencing in the Ion Torrent PGM™ platform. Phenotype-genotype correlations were made based on the BioPKU database. Three patients required additional Sanger sequencing analyses. Twenty-six different pathogenic variants were identified. The most frequent variants were c.1315+1G>A (n = 8/66), c.473G>A (n = 6/66), and c.1162G>A (n = 6/66). One novel variant, c.524C>G (p.Pro175Arg), was found in one allele and was predicted as likely pathogenic by the American College of Medical Genetics and Genomics (ACMG) criteria. The molecular modeling of p.Pro175Arg indicated that this substitution can affect monomers binding in the PAH tetramer, which could lead to a change in the stability and activity of this enzyme. Next-generation sequencing was a fast and effective method for diagnosing PKU and is useful for patient phenotype prediction and genetic counseling.

GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil.

Mutations of the GBA gene have been reported in patients with Parkinson's disease (PD) from a number of different countries, including Brazil. In order to confirm this pattern in a sample of PD patients from northern Brazil, we conducted a case-control study of the occurrence of the two most common mutations of the GBA gene (c.1226A>G; p.N370S and c.1448T>C; p.L444P) in a group of 81 PD patients and 81 control individuals, using PCR-RFLP, confirmed by the direct sequencing of the PCR products. In the patient group, three patients (3.7%) were heterozygous for the GBA c.1226A>G; p.N370S mutation, and three (3.7%) for GBA c.1448T>C; p.L444P Neither mutation was detected in the control group (p =0.0284). Patients with the c.1448T>C; p.L444P mutation showed a tendency to have an earlier disease onset, but a larger sample number is required to confirm this observation. Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.

GBA mutations p.N370S and p. L444P are associated with Parkinson's disease in patients from Northern Brazil / Mutações p.N370S e p. L444P no gene GBA estão associadas com doença de Parkinson em pacientes do norte do Brasil

ABSTRACT Mutations of the GBA gene have been reported in patients with Parkinson's disease (PD) from a number of different countries, including Brazil. In order to confirm this pattern in a sample of PD patients from northern Brazil, we conducted a case-control study of the occurrence of the two most common mutations of the GBA gene (c.1226A>G; p.N370S and c.1448T>C; p.L444P) in a group of 81 PD patients and 81 control individuals, using PCR-RFLP, confirmed by the direct sequencing of the PCR products. In the patient group, three patients (3.7%) were heterozygous for the GBA c.1226A>G; p.N370S mutation, and three (3.7%) for GBA c.1448T>C; p.L444P Neither mutation was detected in the control group (p =0.0284). Patients with the c.1448T>C; p.L444P mutation showed a tendency to have an earlier disease onset, but a larger sample number is required to confirm this observation. Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.

RESUMO Mutações no gene GBA têm sido reportadas em pacientes com doença de Parkinson (DP) em diferentes países, incluindo o Brasil. Com o objetivo de confirmar esse padrão em uma amostra de pacientes com DP provenientes do Norte brasileiro, foi conduzindo esse estudo caso-controle investigando a frequência das duas mutações mais comuns do gene GBA (c.1226A>G; p.N370S e c.1448T>C; p.L444P) em um grupo de 81 pacientes com DP e 81 controles, usando PCR-RFLP e confirmado pelo sequenciamento direto de produtos de PCR. No grupo experimental, três pacientes (3,7%) foram heterozigotos para a mutação c.1226A>G; p.N370S e três (3,7%), para a mutação c.1448T>C; p.L444P Nenhuma das duas mutações foi detectada no grupo controle (p =0,0284). Pacientes com a mutação c.1448T>C; p.L444P demonstraram uma tendência a apresentar os sintomas mais precocemente, porém um número amostrai maior é necessário para confirmar essa observação. Nossos resultados sugerem uma associação entre essas duas mutações no gene GBA e o desenvolvimento de DP na população de pacientes do norte Brasileiro.

Autogenous Bone Graft Versus Bovine Bone Graft in Association With Platelet-Rich Plasma for the Reconstruction of Alveolar Clefts: A Pilot Study.

OBJECTIVE: To compare the outcomes of 2 different bone graft materials: autogenous bone grafts from mandibular symphysis and bovine bone grafts associated with platelet-rich plasma (PRP). METHODS: Twenty individuals met the inclusion criteria and accepted to participate in the study. Group A patients underwent alveolar bone grafting using autologous bone and group B patients using a bovine bone graft associated with PRP. Cone beam computed tomography scans were taken and reconstructed 3-dimensionally for all patients preoperatively and 1 year postoperatively. RESULTS: A significant reduction was detected for area and volume within group A and group B. Between groups, no significant difference was found for area or volume. CONCLUSIONS: Bovine grafts associated with PRP are a good option for the reconstruction of alveolar clefts and provide good results such as autologous bone grafts.

Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report.

OBJECTIVE: Mucopolysaccharidosis (MPS) VI is a rare disorder caused by an autosomal recessive mutation in the short arm of chromosome 5 (5q12-13) leading to an N-acetylgalactosamine-sulfatase lysosomal enzyme deficiency and numerous systemic clinical changes. The oral and maxillofacial complex may exhibit tooth eruption anomalies, macroglossia, gingival hypertrophy, mouth breathing, increased lower facial height, open bite, retrognathia, and progressive TMJ arthrosis. This report describes craniofacial growth changes in two MPS VI patients, sisters and daughters of outbred parents, who were longitudinally monitored from 11 to 15 years of age. STUDY DESIGN: Skull lateral teleradiography and cephalometric tracings were performed. The measurements were assessed in the anteroposterior and vertical directions based on protocols by McNamara and Usp/Unicamp and compared to the normal reported ranges. RESULTS: A similar skeletal class III malocclusion was observed in both patients. The jaw was retruded, the anterior skull base decreased, and the mandibular body was normal or larger than normal. The vertical growth direction differed between the patients; one was hyperdivergent, while the other was hypodivergent. CONCLUSIONS: By understanding the craniofacial growth changes in MPS VI patients, new treatment options may be developed for affected patients.

Tooth Abnormalities In Individuals With Unilateral Alveolar Clefts: A Comparison Between Sides Using Cone-Beam Computed Tomography.

BACKGROUND: Tooth abnormalities are most often present in individuals with oral clefts than general population, and lead to a long-term impact on facial anatomy and self-esteem. The purpose of this study was to compare the proportion of dental anomalies between the cleft side and non-cleft side in individuals with non-syndromic unilateral alveolar clefts (AC). MATERIAL AND METHODS: Twenty cone beam computed tomography (CBCT) scans were converted into three-dimensional (3D) virtual models. The dental anomalies considered were: tooth agenesis; supernumerary teeth; giroversion; and microdontia. Statistical analysis was performed using the McNemar's test and Fisher's exact test (p<0.05). RESULTS: Statistically significant differences were not found either between the prevalence of individuals with dental abnormalities on the non-cleft side and the sides of the AC (p = 1.00), or sex (p = 0.36). Tooth agenesis was the most prevalent dental anomaly (55.6%). On the cleft side the lateral incisor was tooth most involved by dental anomalies; and the second premolar was the most affected on the non-cleft side. CONCLUSIONS: This study showed a high frequency of dental anomalies in the cleft individuals and indicated that the side of AC and sex do not interfere in the proportion of dental anomalies on non-cleft side. Key words:Cone beam computed tomography, Hypodontia, Tooth abnormalities.

Trait vs. state anxiety in different threatening situations / Ansiedade traço versus ansiedade estado em diferentes situações de ameaça

Abstract Objective Anxiety as a uni- or multidimensional construct has been under discussion. The unidimensional approach assumes that there is a general trait anxiety, which predisposes the individuals to increases in state anxiety in various threatening situations. In this case, there should be a correlation between state and trait anxiety in any situation of threat. Therefore, the aim of this study was to investigate the correlation between trait and state anxiety in participants exposed to two different anxiogenic situations: interpersonal threat (Video-Monitored Stroop Test - VMST) and physical threat (third molar extraction - TME). Methods Participants with various levels of trait anxiety (general trait: State-Trait Anxiety Inventory - STAI, Hospital Anxiety and Depression Scale; specific trait: Social Phobia Inventory, Dental Anxiety Scale) had their anxious state evaluated (STAI, self-evaluation of tension level, heart rate, electromyogram activity) before, during and after the VMST or the TME. Results In VMST, trait anxiety correlated to state anxiety (psychological parameters) in all test phases. However, in TME, the only trait measurement that correlated to state anxiety (psychological parameters) was the Dental Anxiety Scale. Conclusion Trait anxiety correlates positively to state anxiety in situations of interpersonal threat, but not of physical threat.

Resumo Objetivo A ansiedade como um construto uni ou multidimensional tem estado em discussão. A abordagem unidimensional presume que há uma ansiedade-traço geral, a qual predispõe o indivíduo a aumentar a ansiedade-estado em situações de ameaça. Neste caso, deveria existir uma correlação entre estado e traço ansioso em diferentes situações ameaçadoras. Portanto, o objetivo deste estudo foi avaliar a correlação entre ansiedade-traço e ansiedade-estado em participantes que foram expostos a duas situações ansiogênicas diferentes: ameaça interpessoal (Teste de Stroop Monitorado por Vídeo - TSMV) e ameaça física (exodontia do terceiro molar - ETM). Métodos Participantes com vários níveis de ansiedade-traço (traço geral: Inventário de Ansiedade Traço-Estado - IDATE; Escala Hospitalar de Ansiedade e Depressão; traço específico: Inventário de Fobia Social, Escala de Ansiedade Dental de Corah) tiveram seus estados ansiosos avaliados (IDATE, escala analógica de tensão, frequência cardíaca, eletromiografia) antes, durante e depois do TSMV ou da ETM. Resultados No TSMV, a ansiedade-traço correlacionou-se com a ansiedade-estado (parâmetros psicológicos) em todas as fases do teste. Entretanto, na ETM, a única medida de traço que se correlacionou com a ansiedade-estado (parâmetros psicológicos) foi a Escala de Ansiedade Dental de Corah. Conclusão A ansiedade-traço correlaciona-se positivamente com a ansiedade-estado em situações de ameaça interpessoal, mas não de ameaça física.

Trait vs. state anxiety in different threatening situations.

OBJECTIVE: Anxiety as a uni- or multidimensional construct has been under discussion. The unidimensional approach assumes that there is a general trait anxiety, which predisposes the individuals to increases in state anxiety in various threatening situations. In this case, there should be a correlation between state and trait anxiety in any situation of threat. Therefore, the aim of this study was to investigate the correlation between trait and state anxiety in participants exposed to two different anxiogenic situations: interpersonal threat (Video-Monitored Stroop Test - VMST) and physical threat (third molar extraction - TME). METHODS: Participants with various levels of trait anxiety (general trait: State-Trait Anxiety Inventory - STAI, Hospital Anxiety and Depression Scale; specific trait: Social Phobia Inventory, Dental Anxiety Scale) had their anxious state evaluated (STAI, self-evaluation of tension level, heart rate, electromyogram activity) before, during and after the VMST or the TME. RESULTS: In VMST, trait anxiety correlated to state anxiety (psychological parameters) in all test phases. However, in TME, the only trait measurement that correlated to state anxiety (psychological parameters) was the Dental Anxiety Scale. CONCLUSION: Trait anxiety correlates positively to state anxiety in situations of interpersonal threat, but not of physical threat.

Does the Polymorphism in the Length of the Polyalanine Tract of FOXE1 Gene Influence the Risk of Thyroid Dysgenesis Occurrence?

Background. Recent data have suggested that polymorphisms in the length of the polyalanine tract (polyA) of FOXE1 gene may act as a susceptibility factor for thyroid dysgenesis. The main purpose of this study was to investigate the influence of polyA of FOXE1 gene on the risk of thyroid dysgenesis. Method. A case-control study was conducted in a sample of 90 Brazilian patients with thyroid dysgenesis and 131 controls without family history of thyroid disease. Genomic DNA was isolated from peripheral blood samples and the genotype of each individual was determined by automated sequencing. Results. More than 90% of genotypes found in the group of patients with thyroid dysgenesis and in controls subjects were represented by sizes 14 and 16 polymorphisms in the following combinations: 14/14, 14/16, and 16/16. Genotypes 14/16 and 16/16 were more frequent in the control group, while genotype 14/14 was more frequent in the group of patients with thyroid dysgenesis. There was no difference between agenesis group and control group. Genotype 14/14 when compared to genotypes 14/16 and 16/16A showed an association with thyroid dysgenesis. Conclusion. PolyA of FOXE1 gene alters the risk of thyroid dysgenesis, which may explain in part the etiology of this disease.

Health-Related Quality of Life Patients With a Cleft Lip and/or Palate.

BACKGROUND: The authors evaluated health-related quality of life (HRQoL) in patients with cleft lip and/or palate (CLP). METHODS: A descriptive, observational, cross-sectional study was conducted in the largest referral facility for treating individuals with CLP in Sergipe state. The authors created 3 groups with 97 subjects each: CLP, family, and control. An initial cognitive evaluation was performed with the Mini-Mental State Examination, and the Medical Outcomes Study 36 item Short-Form Health Survey (SF-36) was applied to evaluate HRQoL in individuals with sufficient cognitive capacity. RESULTS: Individuals with CLP usually had a primary education, were single, and had incomes between 1 and 2 minimum wages, and slightly more than half presented with a transforamen cleft (59.8%). No significant difference was observed in the overall HRQoL score among the 3 groups (cleft: 72.2; family: 70.6; control: 72.5). Individuals with CLP had a lower average on the Emotional Aspects domain of the SF-36 than that in the control group, whereas the CLP group had higher averages in the Vitality domain when compared with their relatives. Men had higher averages on the Physical Function (PF) and Mental Health (MH) domains. Patients operated on at the optimal time (≤12 months of age) had higher mean PF domain scores. CONCLUSIONS: Patients with CLP and their families often represent people with low purchasing power, strengthening the socioeconomic inequality. Although the global HRQoL was similar among all groups surveyed, the cleft influenced both the patients and their relatives.