Oral health related-quality of life before and during the COVID-19 pandemic in patients with non-alcoholic fatty liver disease.

BACKGROUND: Since the beginning of the COVID-19 pandemic, the number of medical appointments and the offer and use of oral health services have decreased sharply with the lockdown period. Restriction to regular dental care can increase the risk of oral diseases, capable of affecting general health and oral health-related quality of life, particularly among medically compromised patients. This study aimed to assess health-related quality of life (HRQoL) and oral health-related quality of life (OHRQoL) of patients with non-alcoholic liver disease (NAFLD) before and during the COVID-19 pandemic. MATERIAL AND METHODS: Prospective cohort of 58 patients with NAFLD followed up from March 2020 (before the pandemic) to December 2021 (during the pandemic). RAND 36-Item Health Survey and Oral Health Impact Profile 14 (OHIP-14) questionnaires were used to assess HRQoL and OHRQoL, respectively, in the two points of time. RESULTS: The scores of all scales HRQoL and of the question about health change in the last year decreased substantially with the advent of the pandemic. Large (>0.50) effect sizes were estimated for the scales Role functioning/physical, Pain, General health, and Energy/fatigue. Patients who had COVID-19 presented better HRQoL and OHIP-14 mean scores than those who did not have the disease. The OHIP-14 total score increased 3.6 points with the advent of the pandemic, representing a large effect size (0.62). Patients presented high probability (84.3%) of increasing OHIP14 score during the pandemic. CONCLUSIONS: The HRQoL and the OHRQoL scores of NAFLD patients decreased substantially with the advent of the pandemic. However, these decreases were not associated with the COVID-19 disease by itself, but probably to other factors related to the deep social changes brought by the social isolation measures to combat the pandemic.

Quality of life, work ability and oral health among patients with chronic liver diseases.

BACKGROUND: This study aimed to explore the associations between health-related quality of life and work ability with the oral health status of patients with chronic liver disease. MATERIAL AND METHODS: A cross-sectional study included 150 patients with chronic liver disease, consecutively seen at University Hospital, Salvador, Brazil. Oral health was evaluated by the Decayed, Missing, and Filled Teeth (DMFT) index and by the presence of gingivitis and periodontitis. Salivary flow was "reduced" when <1.0 mL/min. Health-related quality of life was evaluated by using the 36-Item Short Form Health Survey questionnaire (SF-36); work ability was evaluated by the Work Ability Index questionnaire. RESULTS: All health-related quality of life indicators were systematically lower among the 99 patients with reduced salivary flow than among the 51 patients with normal salivary flow. Physical Functioning, Role-Physical, and Physical Component Summary scores were strongly correlated (P < 0.005 or less) with the number of Missing Teeth and with DMFT index. Reduced salivary flow was associated (P < 0.05) with poor work ability. Patients with poor or moderate work ability presented higher (P < 0.001) means of the DMFT index than those with good or excellent work ability. CONCLUSIONS: Patients with chronic liver disease who present poor oral health presented low health-related quality of life and poor work ability. These findings reinforce the need of these patients for specialized stomatological care.

Oral Health and Quality of Life in Candidates for Liver Transplantation.

BACKGROUND: There is a gap in the scientific literature about the association between oral health and the health-related quality of life of patients on the liver transplantation waiting list. The aim of this work was to describe aspects of oral health and quality of life of patients on a liver transplantation waiting list. METHODS: This was a cross-sectional study among 116 patients with chronic hepatic disease: 29 on a liver transplantation waiting list (Model for End-Stage Liver Disease score ≥15) and 87 under monitoring in a gastroenterology service in a Brazilian university hospital. Oral health was evaluated according to criteria recommended by the World Health Organization and by the European Association of Dental Public Health. Health-related quality of life was evaluated by means of the 36-Item Short-Form Health Survey (SF-36). RESULTS: Patients on the liver transplantation waiting list presented poorer health-related quality of life than those who were not on the list in the domains physical functioning, role physical, bodily pain, general health perceptions, and social functioning and in the physical component summary. Periodontitis affected 72.4% of the patients on the liver transplantation waiting list, but only 27.6% of the patients not on that list. Reduced salivary flow was associated with poorer mental health component summary in hepatitis C patients. CONCLUSIONS: Patients on the liver transplantation waiting list presented poorer health-related quality of life than those who were not on the list, mainly in the indicators concerning physical health, as well as higher frequencies of decayed teeth and periodontitis. The mental health component summary was associated with reduced salivary flow in hepatitis C patients.

De novo transcriptome assembly of sugarcane leaves submitted to prolonged water-deficit stress.

Sugarcane production is strongly influenced by drought, which is a limiting factor for agricultural productivity in the world. In this study, the gene expression profiles obtained by de novo assembly of the leaf transcriptome of two sugarcane cultivars that differ in their physiological response to water deficit were evaluated by the RNA-Seq method: drought-tolerant cultivar (SP81-3250) and drought-sensitive cultivar (RB855453). For this purpose, plants were grown in a greenhouse for 60 days and were then submitted to three treatments: control (-0.01 to -0.015 MPa), moderate water deficit (-0.05 to -0.055 MPa), and severe water deficit (-0.075 to -0.08 MPa). The plants were evaluated 30, 60, and 90 days after the beginning of treatment. Sequencing on an Illumina platform (RNA-Seq) generated more than one billion sequences, resulting in 177,509 and 185,153 transcripts for the tolerant and sensitive cultivar, respectively. These transcripts were aligned with sequences from Saccharum spp, Sorghum bicolor, Miscanthus giganteus, and Arabidopsis thaliana available in public databases. The differentially expressed genes detected during the prolonged period of water deficit permit to increase our understanding of the molecular patterns involved in the physiological response of the two cultivars. The tolerant cultivar differentially expressed a larger number of genes at 90 days, while in the sensitive cultivar the number of differentially expressed genes was higher in 30 days. Both cultivars perceived the lack of water, but the tolerant cultivar responded more slowly than the sensitive cultivar. The latter requires rapid activation of different water-deficit stress response mechanisms for its survival. This rapid activation of metabolic pathways in response to water stress does not appear to be the key mechanism of drought tolerance in sugarcane. There is still much to clarify on the molecular and physiological pattern of plants in response to drought.

Polymorphisms on IFNG, IL12B and IL12RB1 genes and paracoccidioidomycosis in the Brazilian population.

Paracoccidioidomycosis (PCM) is a systemic chronic mycosis, endemic in Latin America, especially Brazil, and is the eighth leading cause of death among chronic and recurrent infectious diseases. PCM infection is characterized by the presence of Th1 immune response; the acute form, by a mixed Th2/Th9, while the chronic form is characterized by Th17/Th22 profiles. The occurrence and severity of human PCM may also be associated with genetic factors such as single nucleotide polymorphisms (SNP) on cytokines encoding genes. We investigated the association between these polymorphisms and the different clinical forms of PCM. We included 156 patients with PCM (40 with the acute form, 99 with the chronic multifocal and 17 with the chronic unifocal form) and assayed their DNA samples for IFNG +874 T/A SNP by PCR-ARMS (Amplification Refractory Mutational System), IL12B +1188 A/C SNP on 3' UTR and IL12RB1 641 A/G SNP on exon 7 by PCR-RFLP (Restriction Fragment Length Polymorphism). We found similar genotypic and allelic frequencies of the investigated SNPs among the clinical forms of PCM. Considering male patients, the IL12RB1 641 AA genotype was more frequent in the chronic multifocal form while heterozygosis was in the chronic unifocal form of PCM (p=0.048). Although our data suggest that the AA genotype (IL12RB1) may be associated with the more disseminated chronic disease, more patients of the chronic unifocal PCM group need to be analyzed as well as the secretion patterns of IFN-γ combined with the IL-12Rß1 expression for a better comprehension of this association.

Mapping and validation of Xanthomonas citri subsp citri genes regulated by putative plant-inducible promoter box (PIP-box).

Citrus canker, caused by the Gram-negative bacterium Xanthomonas citri subsp citri (Xac), is a major disease affecting citriculture worldwide, because of the susceptibility of the host and the lack of efficient control methods. Previous studies have reported that some genes of phytopathogenic bacteria possess a consensus nucleotide sequence (TTCGC...N15...TTCGC) designated the "plant-inducible-promoter box" (PIP box) located in the promoter region, which is responsible for activating the expression of pathogenicity and virulence factors when the pathogen is in contact with the host plant. In this study, we mapped and investigated the expression of 104 Xac genes associated with the PIP box sequences using a macroarray analysis. Xac gene expression was observed during in vitro (Xac grown for 12 or 20 h in XAM1 induction medium) or in vivo (bacteria grown in orange leaves for 3 to 5 days) infection conditions. Xac grown in non-induction NB liquid medium was used as the control. cDNA was isolated from bacteria grown under the different conditions and hybridized to the macroarray, and 32 genes differentially expressed during the infection period (in vitro or in vivo induction) were identified. The macroarray results were validated for some of the genes through semi-quantitative RT-PCR, and the functionality of the PIP box-containing promoter was demonstrated by activating b-glucuronidase reporter gene activity by the PIP box-containing promoter region during Xac-citrus host interaction.

Efeito da irrigação de pastagens em índices técnicos e gerenciais de propriedades leiteiras / Effect of pasture irrigation on the technical and management indicators of dairy farms

Objetivou-se estudar o efeito da utilização, ou não, da irrigação de pastagens em índices técnicos e gerenciais de 20 unidades demonstrativas (UD), participantes do programa “Balde Cheio”, no estado do Rio de Janeiro, no período de janeiro a dezembro de 2011. Obteve-se relação matriz/mão de obra, animais no rebanho/mão de obra e produção de leite/mão de obra, animais/área de produção, percentagem de vacas em lactação, além da produção de leite. Analisou-se a rentabilidade considerando a margem bruta, a margem líquida, o resultado (lucro ou prejuízo), e a lucratividade. Os dados foram analisados utilizando-se o software PASW 18.0. A utilização da irrigação de pastagens não alterou significativamente os índices avaliados. As maiores lucratividades e rentabilidades das propriedades que utilizam irrigação de pastagens foram consequência de melhores índices de produtividade animal/dia e por ha/ano. Quando considerados os indicadores margem bruta, líquida e resultado, utilizando a receita total, há descapitalização dos pecuaristas...(AU)

The objective of this study was to evaluate the effect of pasture irrigation on the technical and management indicators of 20 demonstrative units participating in the “Balde Cheio” Program in the state of Rio de Janeiro from January to December 2011. The following variables were obtained: dam/labor ratio, herd size/labor ratio, milk yield/labor ratio, animals/production area, percentage of lactating cows, and milk yield. Return was analyzed considering gross margin, net margin, outcome (profit or loss), and profitability. The data were analyzed using the PASW 18.0 software. Pasture irrigation did not significantly alter the indicators studied. The greater profitability and return of farms using pasture irrigation were the consequence of better animal production rates/day and per ha/year. When gross margin, net margin and outcome using total revenue are considered, there is decapitalization of the farms...(AU)

Efeito da irrigação de pastagens em índices técnicos e gerenciais de propriedades leiteiras / Effect of pasture irrigation on the technical and management indicators of dairy farms

Objetivou-se estudar o efeito da utilização, ou não, da irrigação de pastagens em índices técnicos e gerenciais de 20 unidades demonstrativas (UD), participantes do programa “Balde Cheio”, no estado do Rio de Janeiro, no período de janeiro a dezembro de 2011. Obteve-se relação matriz/mão de obra, animais no rebanho/mão de obra e produção de leite/mão de obra, animais/área de produção, percentagem de vacas em lactação, além da produção de leite. Analisou-se a rentabilidade considerando a margem bruta, a margem líquida, o resultado (lucro ou prejuízo), e a lucratividade. Os dados foram analisados utilizando-se o software PASW 18.0. A utilização da irrigação de pastagens não alterou significativamente os índices avaliados. As maiores lucratividades e rentabilidades das propriedades que utilizam irrigação de pastagens foram consequência de melhores índices de produtividade animal/dia e por ha/ano. Quando considerados os indicadores margem bruta, líquida e resultado, utilizando a receita total, há descapitalização dos pecuaristas...

The objective of this study was to evaluate the effect of pasture irrigation on the technical and management indicators of 20 demonstrative units participating in the “Balde Cheio” Program in the state of Rio de Janeiro from January to December 2011. The following variables were obtained: dam/labor ratio, herd size/labor ratio, milk yield/labor ratio, animals/production area, percentage of lactating cows, and milk yield. Return was analyzed considering gross margin, net margin, outcome (profit or loss), and profitability. The data were analyzed using the PASW 18.0 software. Pasture irrigation did not significantly alter the indicators studied. The greater profitability and return of farms using pasture irrigation were the consequence of better animal production rates/day and per ha/year. When gross margin, net margin and outcome using total revenue are considered, there is decapitalization of the farms...

Analysis of the intestinal bacterial microbiota in maize- or sorghum-fed broiler chickens using real-time PCR.

1. An experiment was conducted to study the effect of two different diets on zootechnical performance and the major bacterial groups in association with the host mucosa and dispersed in the lumen contents of the small intestine of broiler chickens. 2. The two experimental diets were maize or sorghum-based. In addition to the total bacteria, bacterial groups belonging to the Enterobacteriaceae (Enterococcus and Lactobacillus) were quantified by real-time PCR. 3. There were no differences in body weight gain and feed intake, but feed conversion ratio increased for sorghum-fed broilers at 21 and 42 d of age. 4. The Enterococcus group decreased in all gut segments from 7 to 42 d, while the Lactobacillus group increased in both ecosystems. In the ileal mucosa, the enterobacterial counts decreased from 7 to 42 d in the maize-based diet, but remained stable in the sorghum-based diet. 5. The results shed light on the spatial and temporal distribution of bacterial groups that play important physiological roles in the small intestine of chickens. Specifically, the increased Enterobacteria population in the ileum is consistent with the relatively poor feed conversion in sorghum-fed broilers.

Evaluation of sperm quality in successive regular collections from captive black-and-gold howler monkeys (Alouatta caraya)

The black-and-gold howler monkey serves as a suitable model for development of assisted reproductive techniques (ARTs), which may later be applied in threatened species of the same genus. The objectives of this study were to evaluate semen characteristics of black-and-gold howler monkeys (Alouatta caraya), with emphasis on mitochondrial activity and acrosome integrity, using staining methods that are suitable for use under field conditions. Twenty six semen samples were collected by rectal probe electroejaculation from six adult captive males from the National Primate Center (CENP), Ananindeua, PA, Brazil. The following parameters were evaluated in each semen sample: volume, pH, concentration, plasma membrane integrity, acrosome integrity, and mitochondrial activity. Both Spermac stain and the Simple Staining Method were suitable for acrosome evaluation. Diaminobenzidine needs further investigation to improve its application for this species. Overall semen quality improved from the first collection to the fifth collection. This highlights the importance of repeating semen collections when evaluating a male for use in ARTs. This research brought novel information on semen characteristics of Alouatta caraya which will aid further studies on the application of ARTs in this and other primate species.

Evaluation of sperm quality in successive regular collections from captive black-and-gold howler monkeys (Alouatta caraya)

The black-and-gold howler monkey serves as a suitable model for development of assisted reproductive techniques (ARTs), which may later be applied in threatened species of the same genus. The objectives of this study were to evaluate semen characteristics of black-and-gold howler monkeys (Alouatta caraya), with emphasis on mitochondrial activity and acrosome integrity, using staining methods that are suitable for use under field conditions. Twenty six semen samples were collected by rectal probe electroejaculation from six adult captive males from the National Primate Center (CENP), Ananindeua, PA, Brazil. The following parameters were evaluated in each semen sample: volume, pH, concentration, plasma membrane integrity, acrosome integrity, and mitochondrial activity. Both Spermac stain and the Simple Staining Method were suitable for acrosome evaluation. Diaminobenzidine needs further investigation to improve its application for this species. Overall semen quality improved from the first collection to the fifth collection. This highlights the importance of repeating semen collections when evaluating a male for use in ARTs. This research brought novel information on semen characteristics of Alouatta caraya which will aid further studies on the application of ARTs in this and other primate species.(AU)

Differential distribution of sperm subpopulations and incidence of pleiomorphisms in ejaculates of captive howling monkeys (Alouatta caraya).

The aim of this study was to develop an objective method to determine the incidence of pleiomorphisms and its influence on the distribution of sperm morphometric subpopulations in ejaculates of howling monkeys (Alouatta caraya) by using a combination of computerized analysis system (ASMA) and principal component analysis (PCA) methods. Ejaculates were collected by electroejaculation methods on a regular basis from five individuals maintained under identical captive environmental, nutritional, and management conditions. Each sperm head was measured for dimensional parameters (Area [A, (square micrometers)], Perimeter [P, (micrometers)], Length [L, (micrometers)], and Width [W, (micrometers)]) and shape-derived parameters (Ellipticity [(L/W)], Elongation [(L - W)/(L + W)], and Rugosity [(4лA/P (2))]). PCA revealed two principal components explaining more than the 96 % of the variance. Clustering methods and discriminant analyzes were performed and seven separate subpopulations were identified. There were differences (P < 0.001) in the distribution of the seven subpopulations as well as in the incidence of abnormal pleiomorphisms (58.6 %, 49.8 %, 35.1 %, 66.4 %, and 55.1 %, P < 0.05) among the five donors tested. Our results indicated that differences among individuals related to the incidence of pleiomorphisms, and sperm subpopulational structure was not related to the captivity conditions or the sperm collection method, since all individuals were studied under identical conditions. In conclusion, the combination of ASMA and PCA is a useful clinical diagnostic resource for detecting deficiencies in sperm morphology and sperm subpopulations in A. caraya ejaculates that could be used in ex situ conservation programs of threatened species in Alouatta genus or even other endangered neotropical primate species.

Epithelial-mesenchymal transition-like events in vulvar cancer and its relation with HPV.

BACKGROUND: Epithelial-to-mesenchymal transition (EMT) still remains an obscure event in vulvar squamous cell carcinoma (VSCC). METHODS: Immunohistochemistry (IHC) expression of E-cadherin, ß-catenin, Snail, Slug, Twist and Vimentin was analysed in 87 VSCC, controlled for human papillomavirus (HPV) positivity, considering tumour front and central tumour as different morphological categories from the same tumour. RESULTS: Lower ß-catenin and higher Vimentin expression was associated with invasive front when compared with the central tumour (P=0.013 and P≤0.001, respectively). Higher expression of E-cadherin in central tumour was significantly related to absence of vascular and perineural invasion, lower invasion depth and ≥2 lymph node involvement. Loss of ß-catenin and high Slug, Snail and Twist expression was associated with HPV-negative tumours. Moreover, ß-catenin lower expression associated with gain in Slug expression predicts a subgroup with worst outcome (P=0.001). Lower expression of ß-catenin in both central tumour and invasive front correlated with lower overall survival (P=0.021 and P=0.011, respectively). Also, multivariate analysis showed that lower ß-catenin expression was independently associated with poorer outcome (P=0.044). CONCLUSION: Human papillomavirus-related tumours show better prognosis and outcome; besides, they do not progress through EMT phenomenon. Immunohistochemical analysis of ß-catenin in invasive tumour front is a key issue for establishing prognosis of vulva cancer.

Identification of sperm head subpopulations with defined pleiomorphic characteristics in ejaculates of captive Goeldi's monkeys (Callimico goeldii).

The aim of this study was to evaluate the incidence of pleiomorphisms and its influence on the distribution of sperm morphometric subpopulations in ejaculates from the vulnerable Goeldi's monkey (Callimico goeldii) by using a combination of computerized analysis system and Principal Component Analysis (PCA) methods. Each sperm head was measured for four primary spermatozoal head dimensional parameters (area [A (µm(2))], perimeter [P (µm)], length [L (µm)] and width [W (µm)]) and three head shape derived parameters (ellipticity [(L/W)], elongation [(L-W)/(L+W)] and rugosity [(4πA/P(2))]). Six separate subpopulations (SPs) were identified: SP1, constituted by very large, narrow and very elliptical spermatozoa (A=16.85±1.56µm(2), W=2.75±0.42µm and ellipticity=2.16±0.24); SP2, characterized by average sized, short, wide and round spermatozoa (A=15.00±1.92µm(2), L=5.06±0.49µm, W=3.51±0.31µm and ellipticity=1.44±0.15); SP3, represented by small, wide and slightly round spermatozoa (A=14.95±1.75µm(2), W=3.47±0.29µm and ellipticity=1.48±0.14); SP4 included very small, short and very round spermatozoa (A=14.15±2.38µm(2), L=4.90±0.57µm and elongation=0.18±0.05); SP5 consisted of average sized and slightly elliptical spermatozoa (A=15.14±1.72µm(2) and ellipticity=1.49±0.14); and SP6 included large and round spermatozoa (A=16.30±1.62µm(2) and elongation=0.19±0.04). There were differences in the sperm subpopulation distribution (P<0.001) among the five donors analyzed. In conclusion, the results of the current study confirmed that the use of computer sperm analysis methods combined with PCA cluster analyses are useful methods to identify, classify, and characterize different sperm head morphometric subpopulations in neotropical primates. Broadening our knowledge of C. goeldii sperm morphometric abnormalities as well as developing reliable techniques for sperm evaluation may be essential for ex situ conservation of this threatened species.

Estrogen receptor-positive breast carcinomas in younger women are different from those of older women: a pathological and immunohistochemical study.

The higher frequency of triple-negative and HER-2-positive tumors detected in younger patients has been suggested as an explanation for the more aggressive tumor types observed in this age group. However, estrogen receptor (ER)-positive tumors are the most frequent subtype of breast carcinomas identified, even in younger patients. In this retrospective study, the morphological and immunohistochemical profiles of ER-positive breast carcinomas from women 35 yrs and younger that were diagnosed between 1997 and 2007 were evaluated. From these cases, 213 were selected based on the availability of pathology reports and paraffin blocks. For comparison, 117 consecutive cases of breast carcinomas diagnosed in patients >60 yrs from 2006 were included. Paraffin-embedded tumors were stained for expression of ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER-2), Ki-67 antigen, epidermal growth factor receptor (EGFR), cytokeratin 5/6, p53, vimentin, CD117, and p63 using tissue microarrays. ER-positive carcinomas were diagnosed in 120 (56.1%) samples of the younger patient group and in 92 (78.6%) samples of the older patient group. Of these ER-positive carcinomas, 48 (40%) from the younger patient group presented the subtype luminal A, compared with 53 (57.6%) from the older patient group (p=0.01). Tumors from the younger patient group were also associated with increased vascular involvement, co-expression of HER-2, and decreased expression of CD117. These results highlight differences in expression markers and the pathology of ER-positive tumors detected in younger women, with a notable characteristic being co-expression of HER-2.

Atrial stretch increases the gastric tonus of anesthetized rats.

AIMS: We assessed the effects of right atrial stretch on gastric tone and neuro-humoral pathways involved in this phenomenon. MAIN METHODS: Anesthetized male rats were submitted for monitoring of the mean arterial pressure (MAP) and central venous pressure (CVP). A balloon catheter positioned into the stomach monitored by plethysmography the gastric volume (GV). All rats were monitored for 55-min. After the first 20-min of monitoring (basal period), rats were either submitted to a 5-min interval of atrial stretch (AS) or maintained as controls. An intra-atrial balloon catheter was distended with 30, 50, or 70 microL of saline. GV and hemodynamic data were also monitored for a further 30-min. Another set of rats, either previously submitted to subdiaphragmatic vagotomy or splanchnicectomy plus celiac ganglionectomy or maintained as controls (sham), were also submitted to AS. Each subset consisted of six rats. The plasma level of the atrial natriuretic peptide (ANP) was measured in another group of rats. Data were compared by ANOVA followed by Bonferroni's test. KEY FINDINGS: In control rats, the GV, MAP, and CVP remained at stable levels throughout the studies. In addition to increase the CVP, AS also decreased (P<0.05) the GV by 14%, 11.5%, and 16.5% in the 30, 50, and 70 microL groups, respectively. Vagotomy prevented the GV decrease. In contrast, the AS decreased (P<0.05) the GV by 21.3% in splanchnicectomized rats. SIGNIFICANCE: AS decreased the GV of rats in a volume-dependent manner, a phenomenon prevented by vagotomy but enhanced by celiac ganglionectomy.

Utility of STR markers for the molecular diagnosis of a large Brazilian family with Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth type 1A disease (CMT1A) is most frequently caused by a tandem DNA duplication of a 1.4-Mb genomic fragment in the 17p11.2-12 chromosomal region. The disease is probably the product of a dosage effect of the peripheral myelin protein 22 gene located within the duplicated segment. We sought to study the largest reported Brazilian family with suspected diagnosis of CMT1A using eight short tandem repeat microsatellite markers. In addition, we analyzed the informativeness of these markers in the normal Brazilian population. The duplication was found in 12 members of the family. In two patients with CMT1A symptoms, the duplication was not detected, and one asymptomatic subject showed the duplication. D17S2230, D17S9B, D17S2220, D17S2227, D17S9A, and D17S4A markers showed the highest heterozygosity rates, and D17S2228 and D17S2224 markers were the least informative in our analysis.

Mucinous ovarian tumors associated with pseudomyxoma peritonei of adenomucinosis type: immunohistochemical evidence that they are secondary tumors.

Pseudomyxoma peritonei (PMP) is a clinical condition initially thought to be related to ovarian mucinous tumors; however, immunohistochemistry and molecular biology techniques have convincingly made the link to appendiceal mucinous neoplasms, resulting in changes in histologic and clinical approaches. The objective of this study was to compare the immunohistochemical profile of ovarian tumors associated with PMP and intestinal mucinous ovarian neoplasms without PMP. The study was retrospective and included 28 intestinal ovarian mucinous tumors selected from the files of the Division of Surgical Pathology of the University of Sao Paulo Medical School, from 1996 to 2005. Seven cases were associated with PMP of disseminated peritoneal adenomucinosis-type and all presented borderline histology. Immunohistochemical staining for mucin genes products (MUC1, MUC2, MUC5AC, and MUC6), CK7, CK20, CA19.9, and CA125 were performed in tissue microarrays. Of note, we detected differences in the expression of MUC2 and CK20 between cases with and without PMP. Comparisons of borderline histology with that of benign/malignant tumors also revealed differences in MUC2 and CK20. Our results confirm that there is a distinct profile of intestinal ovarian tumors associated with pseudomyxoma, particularly with respect to the expression of the gel-forming mucin MUC2. The profile of borderline tumors, even in cases without PMP, was distinct from that of other primary mucinous tumors of the intestinal type, suggesting that borderline histology may represent a secondary tumor or a less aggressive variant of PMP. An appendiceal origin seems the most probable for this group of neoplasias.

Analysis of Factor VIII polymorphic markers as a means for carrier detection in Brazilian families with haemophilia A.

Haemophilia A is an X-linked, recessively inherited bleeding disorder of varying severity, which results from the deficiency of procoagulant factor VIII f(8). Linkage diagnosis using polymorphic markers in the f8 gene is widely used to detect carriers. The objective of this study was to verify the informativeness of three polymorphic markers in the Brazilian population, to evaluate the usefulness of such markers in carrier detection procedures. Sixty-three unrelated healthy volunteers and 10 haemophilic families were studied. Two microsatellite repeats and one HindIII RFLP markers were used. Carrier and non-carrier status could be determined in 80% of females investigated. Intron 13 markers presented the highest heterozygosity rate (79%) followed by intron 22 (68%) and intron 19 (57%). When all three markers were used together, linkage analysis informativeness increased significantly. We conclude that these markers are suitable for carrier detection in the Brazilian population and we recommend their use in combination to maximize diagnostic efficiency.

Molecular cytogenetic analysis of a ring-Y infertile male patient.

In the present study, we report on the case of a 43-year-old male patient seeking for fertility assistance, who showed a seminal analysis and testicular biopsy of complete azoospermia. Peripheral blood culture for chromosome studies revealed a karyotype of 46 chromosomes with a ring-Y-chromosome that lost the long arm heterochromatin. Molecular analysis of genomic DNA from the patient detected the presence of the sex-determining region of the Y-chromosome (SRY) but the complete absence of regions involved in spermatogenesis (AZFa, AZFb, AZFc). Several molecular markers distributed along the Y-chromosome were tested through PCR amplification, and a breakpoint was established close to the centromere, predicting the deletion of the growth control region, in agreement with the short stature observed in this patient. All results obtained through molecular cytogenetic characterization are in accordance with the clinical features observed in this patient.