scholarly journals Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Tiago Fernando Chaves ◽  
Luan Freitas Oliveira ◽  
Maristela Ocampos ◽  
Ingrid Tremel Barbato ◽  
Gisele Rozone de Luca ◽  
...  
Keyword(s):  
Neurodevelopmental Disorders ◽  
The South ◽  
South Of Brazil ◽  
Chromosomal Microarrays

scholarly journals Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Tiago Fernando Chaves ◽  
Nathacha Baretto ◽  
Luan Freitas de Oliveira ◽  
Maristela Ocampos ◽  
Ingrid Tremel Barbato ◽  
...  
Keyword(s):  
Neurodevelopmental Disorders ◽  
Copy Number ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Copy Number Variations ◽  
Facial Dysmorphism ◽  
Diagnostic Purpose ◽  
Chromosome 11 ◽  
The South ◽  
South Of Brazil

AbstractChromosomal microarray (CMA) is now recommended as first tier for the evaluation in individuals with unexplained neurodevelopmental disorders (ND). However, in developing countries such as Brazil, classical cytogenetic tests are still the most used in clinical practice, as reflected by the scarcity of publications of microarray investigation in larger cohorts. This is a retrospective study which analyses the reading files of CMA and available clinical data from 420 patients from the south of Brazil, mostly children, with neurodevelopmental disorders requested by medical geneticists and neurologists for diagnostic purpose. Previous karyotyping was reported for 138 and includes 17 with abnormal results. The platforms used for CMA were CYTOSCAN 750K (75%) and CYTOSCAN HD (25%). The sex ratio of the patients was 1.625 males :1 female and the mean age was 9.5 years. A total of 96 pathogenic copy number variations (CNVs), 58 deletions and 38 duplications, were found in 18% of the patients and in all chromosomes, except chromosome 11. For 12% of the patients only variants of uncertain clinical significance were found. No clinically relevant CNV was found in 70%. The main referrals for chromosomal microarrays (CMA) were developmental delay (DD), intellectual disability (ID), facial dysmorphism and autism spectrum disorder (ASD). DD/ID were present in 80%, facial dysmorphism in 52% and ASD in 32%. Some phenotypes in this population could be predictive of a higher probability to carry a pathogenic CNV, as follows: dysmorphic facial features (p-value = < 0.0001, OR = 0.32), obesity (p-value = 0.006, OR = 0.20), short stature (p-value = 0.032, OR = 0.44), genitourinary anomalies (p-value = 0.032, OR = 0.63) and ASD (p-value = 0.039, OR = 1.94). The diagnostic rate for CMA in this study was 18%. We present the largest report of CMA data in a cohort with ND in Brazil. We characterize the rare CNVs found together with the main phenotypes presented by each patient, list phenotypes which could predict a higher diagnostic probability by CMA in patients with a neurodevelopmental disorder and show how CMA and classical karyotyping results are complementary.

scholarly journals Performance analysis of optical and X-Ray transmitter sensors for limestone classification in the South of Brazil

2020 ◽  
Vol 9 (2) ◽  
pp. 1305-1313
Author(s):  
Régis Sebben Paranhos ◽  
Evandro Gomes dos Santos ◽  
Moacir Medeiros Veras ◽  
Felipe Guadagnin ◽  
Giovanni Argenta Pasetto
Keyword(s):  
Performance Analysis ◽  
The South ◽  
X Ray ◽  
South Of Brazil

Ethnopharmacological studies of antimicrobial remedies in the south of Brazil

2004 ◽  
Vol 90 (1) ◽  
pp. 135-143 ◽  
Author(s):  
G. Coelho de Souza ◽  
A.P.S. Haas ◽  
G.L. von Poser ◽  
E.E.S. Schapoval ◽  
E. Elisabetsky
Keyword(s):  
The South ◽  
South Of Brazil

Trisomy 18: Experience of a reference hospital from the south of Brazil

2011 ◽  
Vol 155 (7) ◽  
pp. 1529-1535 ◽  
Author(s):  
Rafael F.M. Rosa ◽  
Rosana C.M. Rosa ◽  
Marina B. Lorenzen ◽  
Felipe N. de Moraes ◽  
Carla Graziadio ◽  
...  
Keyword(s):  
Trisomy 18 ◽  
The South ◽  
Reference Hospital ◽  
South Of Brazil

New records of the occurrence of biting midges (Diptera: Ceratopogonidae) species in rural area of Santa Maria, Rio Grande do Sul, in the South of Brazil

2022 ◽  
Author(s):  
Julia Somavilla Lignon ◽  
Emanuelle de Souza Farias ◽  
Felipe Arley Costa Pessoa ◽  
Eduarda Maria Trentin Santi ◽  
Lucas Alexandre Farias de Souza ◽  
...  
Keyword(s):  
Rural Area ◽  
New Records ◽  
Rio Grande ◽  
Rio Grande Do Sul ◽  
The South ◽  
Biting Midges ◽  
South Of Brazil ◽  
Santa Maria

scholarly journals Intestinal parasites in cancer patients in the South of Brazil

2017 ◽  
Vol 78 (3) ◽  
pp. 574-578 ◽  
Author(s):  
S. Jeske ◽  
T. F. Bianchi ◽  
M. Q. Moura ◽  
B. Baccega ◽  
N. B. Pinto ◽  
...  
Keyword(s):  
Cancer Patients ◽  
Intestinal Parasites ◽  
Strongyloides Stercoralis ◽  
Clinic Visit ◽  
Parasitic Infections ◽  
The South ◽  
Intestinal Protozoa ◽  
Specific Staining ◽  
Staining Methods ◽  
South Of Brazil

Abstract Intestinal parasitic infections in immunocompromised patients can lead to serious complications when not diagnosed and treated early. This study aimed to investigate the frequency of intestinal parasites in cancer patients undergoing chemotherapy in the South of Brazil. Three fecal samples collected from each patient (73 individuals) were processed by Ritchie and Faust techniques and submitted to specific staining methods for intestinal protozoa. A 61.6% parasite and/or commensal positivity was found. Helminths identified were Ascaris lumbricoides (33.3%), Taenia spp. (6.6%), Strongyloides stercoralis (4.4%) and Trichuris trichiura (2.2%). Among protozoans, Giardia lamblia (26.6%), Cryptosporidium spp. (13.3%) and Cystoisospora belli (4.4%) were identified. The presence of Entamoeba coli, Endolimax nana and Entamoeba hartmanni was also recorded. The results obtained warn of the importance of fecal parasitological diagnosis and the use of specific staining methods for the detection of intestinal parasites in cancer patients. These exams should be regularly requested at the patient’s first clinic visit, given the high prevalence found in this study and the possible severity of such conditions for these individuals.

scholarly journals Globe fringerush (Fimbristylis miliacea) cross resistance to als-inhibitor herbicides under field conditions in irrigated rice in the south of Brazil

2013 ◽  
Vol 31 (4) ◽  
pp. 893-902 ◽  
Author(s):  
C.E. Schaedler ◽  
J.A. Noldin ◽  
D.S. Eberhardt ◽  
D. Agostinetto ◽  
N.R. Burgos
Keyword(s):  
Grain Yield ◽  
Weed Control ◽  
Rice Fields ◽  
Field Conditions ◽  
Cross Resistance ◽  
Herbicide Application ◽  
The South ◽  
Santa Catarina ◽  
Irrigated Rice ◽  
South Of Brazil

ALS-inhibiting herbicides usually provide adequate weed control in irrigated rice fields. After consecutive years of use, the Cyperaceae species, globe fringerush (Fimbristylis miliacea) began to show resistance to ALS (acetolactate synthase) inhibitors. Globe fringerush is one of the most problematic herbicide-resistant weeds in irrigated rice in the state of Santa Catarina in the South of Brazil. The objective of this research was to examine cross resistance of globe fringerush to ALS inhibitors, under field conditions. Two experiments were conducted in a rice field naturally infested with ALS-resistant globe fringerush in Santa Catarina, in the 2008/09 and 2009/10 cropping seasons. The experimental units were arranged in randomized complete block design, with five replicates, consisting of two factors (herbicide and dose) in a 4 x 5 factorial arrangement. ALS herbicides included bispyribac-sodium, ethoxysulfuron, pyrazosulfuron-ethyl and penoxsulam. Six-leaf globe fringerush was sprayed with herbicide doses of 0, 0.5, 1, 2 and 4X the recommended doses in a spray volume of 200 L ha-1. The number of rice culm, filled and sterile grains, plant height, dry shoot biomass and grain yield were recorded. Globe fringerush control was evaluated 28 and 70 days after herbicide application (DAA); shoots were harvested at 13 weeks after herbicide application and dry weight recorded. Competition with globe fringerush reduced the number of culm and rice grain yield. The globe fringerush biotype in this field was resistant to all ALS herbicides tested. Penoxsulam had the highest level of activity among treatments at 28 and 70 DAA, but the control level was only 50% and 42%, respectively, in the second year of assessment. This was not enough to prevent rice yield loss. Alternative herbicides and weed control strategies are necessary to avoid yield losses in rice fields infested with ALS-resistant biotypes of globe fringerush.

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