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1.
Sci Rep ; 11(1): 4400, 2021 02 23.
Article in English | MEDLINE | ID: mdl-33623067

ABSTRACT

Biomass burning in the Brazilian Amazon is modulated by climate factors, such as droughts, and by human factors, such as deforestation, and land management activities. The increase in forest fires during drought years has led to the hypothesis that fire activity decoupled from deforestation during the twenty-first century. However, assessment of the hypothesis relied on an incorrect active fire dataset, which led to an underestimation of the decreasing trend in fire activity and to an inflated rank for year 2015 in terms of active fire counts. The recent correction of that database warrants a reassessment of the relationships between deforestation and fire. Contrasting with earlier findings, we show that the exacerbating effect of drought on fire season severity did not increase from 2003 to 2015 and that the record-breaking dry conditions of 2015 had the least impact on fire season of all twenty-first century severe droughts. Overall, our results for the same period used in the study that originated the fire-deforestation decoupling hypothesis (2003-2015) show that decoupling was clearly weaker than initially proposed. Extension of the study period up to 2019, and novel analysis of trends in fire types and fire intensity strengthened this conclusion. Therefore, the role of deforestation as a driver of fire activity in the region should not be underestimated and must be taken into account when implementing measures to protect the Amazon forest.

2.
Animal ; 13(7): 1544-1551, 2019 Jul.
Article in English | MEDLINE | ID: mdl-30348242

ABSTRACT

There have been few studies realized that evaluate the effects of adopting different nutritional systems in more than one phase of cattle production on carcass and meat characteristics. This study was realized to evaluate carcass and meat characteristics from bulls submitted to different nutritional systems during two production phases. The experiment was conducted at Figueira's farm during two production phases: I (cow-calf) - 80 calves (99.6±2.72 days of age and 109.7±2.99 kg of BW) with their mothers were randomly assigned into two supplemental diets: cow-calf mineral supplement (n=40) or cow-calf creep-feeding (n=40); II (stocker) - the same 80 calves (201.2±2.11 days of age and 190.2±3.37 kg of BW) were redistributed into two production systems: stocker pasture (n=40) or stocker feedlot (SF; n=40). After, all 80 animals were kept on a pasture system (III) for 290 days, and then finished in a feedlot system (IV) for more 33 days. Then, they were slaughtered at an average 764.2±3.06 days of age and at 499.2±3.33 kg of final BW. After slaughter, the average daily gain was calculated, and the carcass and meat characteristics were measured. The statistical model design used was completely randomized in a 2×2 factorial arrangement (two treatment groups on cow-calf phase and two treatment groups on stocker phase). The single effects between the groups in each phase and the interactions between both phases (cow-calf v. stocker) were analyzed. The results were compared by Fisher's test, using the R statistical software. A cow-calf by stocker phases interaction occurred for carcass conformation and fiber diameter. For single effects, the greatest influences observed were in the stocker phase. The feedlot group was slaughtered 17 days earlier, with greater final BW (3.8%), hot carcass weight (5.7%), average daily gain (6.9%), dressing percentage (1.8%), carcass length (1.8%), carcass width (1.5%), longissimus muscle area (4.8%) and muscle depth (2.3%) than pasture group. The SF group also had influence on fat color; showing higher L* and lower b* values. These results reveal that bulls reared in feedlot at the stocker phase have higher muscle development and that the stocker phase has the greatest potential to influence carcass characteristics and meat quality.


Subject(s)
Cattle/physiology , Diet/veterinary , Meat/analysis , Nutritional Status , Animal Husbandry , Animals , Brazil , Male
3.
Ultrastruct Pathol ; 40(2): 71-6, 2016.
Article in English | MEDLINE | ID: mdl-26863094

ABSTRACT

Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. Over 90% of patients with OI have a mutation in COL1A1/COL1A2, which shows an autosomal dominant pattern of inheritance. In-depth phenotyping and in particular, studies involving manifestations in the skin connective tissue have not previously been undertaken in OI. The aims of the study were to perform histological and ultrastructural examination of skin biopsies in a cohort of patients with OI; to identify common and distinguishing features in order to inform genotype-phenotype correlation; and to identify common and distinguishing features between the different subtypes of OI. As part of the RUDY (Rare Diseases in Bone, Joints and/or Blood Vessels) study, in collaboration with the NIHR Rare Diseases Translational Research Collaboration, we undertook a national study of skin biopsies in patients with OI. We studied the manifestations in the skin connective tissue and undertook in-depth clinical and molecular phenotyping of 16 patients with OI. We recruited 16 patients: analyses have shown that in type 1 collagen mutation positive patients (COL1A1/ COL1A2) (n-4/16) consistent findings included: variable collagen fibril diameter (CFD) and presence of collagen flowers. Histological examination in these patients showed an increase in elastic fibers that are frequently fragmented and clumped. These observations provide evidence that collagen flowers and CFD variability are consistent features in OI due to type 1 collagen defects and reinforce the need for accurate phenotyping in conjunction with genomic analyses.


Subject(s)
Collagen Type I/genetics , Mutation , Osteogenesis Imperfecta/genetics , Osteogenesis Imperfecta/pathology , Skin/ultrastructure , Adolescent , Biopsy , Child , Child, Preschool , Collagen Type I/ultrastructure , Collagen Type I, alpha 1 Chain , DNA Mutational Analysis , Elastic Tissue/ultrastructure , Female , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Phenotype
4.
Plant Biol (Stuttg) ; 18(4): 658-68, 2016 Jul.
Article in English | MEDLINE | ID: mdl-26891589

ABSTRACT

Low pH (<5.0) can significantly decrease root growth but whether this is a direct effect of H(+) or an active plant response is examined here. Tomato (Solanum lycopersicum cv Micro-Tom) roots were exposed directly or gradually to low pH through step-wise changes in pH over periods ranging from 4 to 24 h. Roots exposed gradually to pH 4.5 grew even less than those exposed directly, indicating a plant-coordinated response. Direct exposure to pH 4.0 suppressed root growth and caused high cell mortality, in contrast to roots exposed gradually, in which growth remained inhibited but cell viability was maintained. Total class III peroxidase activity increased significantly in all low pH treatments, but was not correlated with the observed differential responses. Use of the enzyme inhibitors salicylhydroxamic acid (SHAM) or diphenyleneiodonium chloride (DPI) suggest that peroxidase and, to a lesser extent, NADPH oxidase were required to prevent or reduce injury in all low pH treatments. However, a role for other enzymes, such as the alternative oxidase is also possible. The results with SHAM, but not DPI, were confirmed in tobacco BY-2 cells. Our results indicate that root growth inhibition from low pH can be part of an active plant response, and suggest that peroxidases may have a critical early role in reducing loss of cell viability and in the observed root growth constraint.


Subject(s)
NADPH Oxidases/metabolism , Peroxidases/metabolism , Solanum lycopersicum/enzymology , Cell Line , Cell Survival/drug effects , Enzyme Inhibitors/pharmacology , Hydrogen-Ion Concentration , Solanum lycopersicum/drug effects , Solanum lycopersicum/growth & development , Solanum lycopersicum/physiology , Mitochondrial Proteins/metabolism , Onium Compounds/pharmacology , Oxidoreductases/metabolism , Peroxidases/antagonists & inhibitors , Plant Proteins/antagonists & inhibitors , Plant Proteins/metabolism , Plant Roots/drug effects , Plant Roots/enzymology , Plant Roots/growth & development , Plant Roots/physiology , Salicylamides/pharmacology , Nicotiana/drug effects , Nicotiana/enzymology , Nicotiana/growth & development , Nicotiana/physiology
5.
Opt Lett ; 40(13): 3161-4, 2015 Jul 01.
Article in English | MEDLINE | ID: mdl-26125392

ABSTRACT

We study the light trapping efficiency of a bidimensional photonic crystal (PC) integrated in a classical organic multilayer solar cell. The role of the PC is to enhance light absorption in the active layer by leveraging resonant mode excitation. However the light trapping efficiency is drastically inhibited by the overall absorption of the entire multilayer, which includes absorption by the passive layers that do not contribute to the photocurrent. This study focuses on the impact of passive absorption in ITO and PEDOT, which is often neglected in the study of light trapping organic solar cell systems, despite the significant role it plays in highly absorbing devices. Indeed, we show here that the absorption enhancement in the active layer can vary between 23% and 46% depending on the optical properties of the passive layers, which are dependent on fabrication conditions. We also detail how the PC behaves with coupled parameters such as the optical indices of the passive layers, as well as the period and the air filling fraction of the PC.

6.
Hum Vaccin Immunother ; 11(2): 450-7, 2015.
Article in English | MEDLINE | ID: mdl-25483636

ABSTRACT

Tuberculosis (TB) remains the world's leading cause of morbidity and mortality. Although Mycobacterium bovis bacillus Calmette-Guérin (BCG) is the only vaccine currently in use, its efficacy is highly variable. It has been suggested that early antigenic presentation is a pivotal event leading to a better immune response in TB vaccine models. To investigate this further, we compared in vitro cell-mediated immune responses in the context of early sensitization with TB (i.e. healthy adults vaccinated with BCG when they were young, HD; n = 25) to those in its absence (i.e., newborns with naïve immunity to TB, UV; n = 10) by challenging mononuclear cells with BCG Moreau. After 48 hours, CD4+ and CD8+ T cells were harvested from both groups and stained for PD-1/CD25/ FOXP3. In addition, supernatants were assayed for a broad range of cytokines using an array system. The HD group showed robust reactivity to Protein Purified Derivative and BCG while the naïve, UV group did not. Similarly, in terms of PD-1 expression and Treg cells (CD4+/CD25high(+)/FOXP3+), only the HD group showed higher levels in CD4 lymphocytes. Otherwise, only the UV group showed expression of CD25dim+ as an activation marker dependent on BCG infection. In terms of cytokines, the HD group showed higher levels of Th1 (IL-2/TNF-α/IFN-γ) and regulatory (IL-10) profiles, with monocytes, but not Tr1 cells, acting as the main source of IL-10. Taken together, our results highlight critical roles of early sensitization with TB in mounting cell-mediated immune responses.


Subject(s)
BCG Vaccine/administration & dosage , BCG Vaccine/immunology , Leukocytes, Mononuclear/immunology , T-Lymphocyte Subsets/immunology , Adolescent , Adult , Brazil , Cells, Cultured , Culture Media/chemistry , Cytokines/analysis , Forkhead Transcription Factors/analysis , Healthy Volunteers , Humans , Interleukin-2 Receptor alpha Subunit/analysis , Leukocytes, Mononuclear/chemistry , Programmed Cell Death 1 Receptor/analysis , T-Lymphocyte Subsets/chemistry , Young Adult
7.
Transplant Proc ; 44(8): 2394-6, 2012 Oct.
Article in English | MEDLINE | ID: mdl-23026603

ABSTRACT

BACKGROUND: Polyomavirus BK (BKV) is currently considered one of the most important infectious diseases in kidney transplants recipients. The prevalence of decoy cells (viral containing shed urothelial cells) in these patients varies between 20% and 60%. Of decoy-positive patients, 1%-8% develop BKV nephropathy, a finding that may be associated with graft failure in up to 80% of affected individuals. METHODS: Decoy cells cytology is an easily performed and inexpensive assay useful for poliomavirus infection screening. Data on the prevalence of decoy cells in simultaneous pancreas-kidney or isolated pancreas recipients remains largely unreported. In the present study, we evaluated 221 patients ≥18 years old with >1 month follow-up after transplantation who had attended the outpatient clinic between September and December 2006. RESULTS: The total prevalence of decoy cells was 16% (16.9% in kidney recipients, 5.9% in simultaneous kidney-pancreas recipients and 20% in pancreas alone recipients). There were no differences between patients with either positive or negative urinary cytology for decoy cells, regarding demographic (gender, age, race) or clinical (time posttransplantation, donor type [deceased vs living donation], and presence of delayed graft function or rejection, other associated viral infections and type of immunosuppressive drugs variables.


Subject(s)
BK Virus/isolation & purification , Kidney Transplantation/adverse effects , Pancreas Transplantation/adverse effects , Polyomavirus Infections/diagnosis , Tumor Virus Infections/diagnosis , Urothelium/virology , Adolescent , Adult , Aged , Brazil , Cross-Sectional Studies , Delayed Graft Function/virology , Female , Graft Rejection/virology , Humans , Immunosuppressive Agents/adverse effects , Male , Middle Aged , Polyomavirus Infections/epidemiology , Polyomavirus Infections/urine , Polyomavirus Infections/virology , Predictive Value of Tests , Prevalence , Time Factors , Treatment Outcome , Tumor Virus Infections/epidemiology , Tumor Virus Infections/urine , Tumor Virus Infections/virology , Urinalysis , Urine/cytology , Urine/virology , Young Adult
8.
Pediatr Dev Pathol ; 15(3): 240-4, 2012.
Article in English | MEDLINE | ID: mdl-22356422

ABSTRACT

Prenatal diagnosis at very early gestational age may disclose fetal anomalies, although this diagnosis is limited by lack of details on ultrasound (US) examination; hence, the importance of postmortem (PM) examination. We present a case of a 13-week-old fetus terminated as a result of significantly raised nuchal translucency, which additionally presented a tetralogy of Fallot with a stenotic pulmonary valve and agenesis of ductus arteriosus. These cardiac defects are not detected by US at this gestational age. On the other hand, PM examinations are being performed more frequently in these cases with the aid of a dissecting microscope and using delicate instruments. This case illustrates the need for a closer collaboration between fetal medicine and fetal pathology in order to reach a more accurate diagnosis, which provides the basis for adequate reproductive counseling.


Subject(s)
Abnormalities, Multiple/diagnosis , Autopsy , Ductus Arteriosus/abnormalities , Pulmonary Valve Stenosis/congenital , Pulmonary Valve Stenosis/diagnosis , Tetralogy of Fallot/diagnosis , Adult , Female , Fetus , Humans , Pregnancy , Pulmonary Valve Stenosis/complications , Tetralogy of Fallot/complications , Tetralogy of Fallot/pathology
9.
Leukemia ; 26(7): 1630-7, 2012 Jul.
Article in English | MEDLINE | ID: mdl-22333881

ABSTRACT

Aberrant histone acetylation was physiopathologically associated with the development of acute myeloid leukemias (AMLs). Reversal of histone deacetylation by histone deacetylase inhibitor (HDACis) activates a cell death program that allows tumor regression in mouse models of AMLs. We have used several models of PML-RARA-driven acute promyelocytic leukemias (APLs) to analyze the in vivo effects of valproic acid, a well-characterized HDACis. Valproic acid (VPA)-induced rapid tumor regression and sharply prolonged survival. However, discontinuation of treatment was associated to an immediate relapse. In vivo, as well as ex vivo, VPA-induced terminal granulocytic differentiation. Yet, despite full differentiation, leukemia-initiating cell (LIC) activity was actually enhanced by VPA treatment. In contrast to all-trans retinoic acid (ATRA) or arsenic, VPA did not degrade PML-RARA. However, in combination with ATRA, VPA synergized for PML-RARA degradation and LIC eradication in vivo. Our studies indicate that VPA triggers differentiation, but spares LIC activity, further uncouple differentiation from APL clearance and stress the importance of PML-RARA degradation in APL cure.


Subject(s)
Anticonvulsants/pharmacology , Cell Differentiation/drug effects , Cell Transformation, Neoplastic/drug effects , Leukemia, Promyelocytic, Acute/drug therapy , Leukemia, Promyelocytic, Acute/pathology , Valproic Acid/pharmacology , Acetylation/drug effects , Animals , Antineoplastic Agents/pharmacology , Flow Cytometry , Mice , Mice, Inbred C57BL , Mice, Nude , Neoplasm Recurrence, Local , Oncogene Proteins, Fusion/metabolism , Signal Transduction , Tretinoin/pharmacology , Tumor Cells, Cultured , Xenograft Model Antitumor Assays
10.
Work ; 41 Suppl 1: 374-9, 2012.
Article in English | MEDLINE | ID: mdl-22316752

ABSTRACT

This study was conducted with older adults living in a long-stay institution in the city of Foz do Iguacu, Parana, Brazil with the objective of assessing the influence of muscle strength loss in the risk of falls. The sample consisted of 65 elderly who walk without the aid of support for locomotion, 37 women and 28 men, aged between 67 and 80 years. The risk of falls was assessed through the TUG test. To determine the handgrip strength, a hand dynamometer model Jamar ( was used, which provides the result in kg / force (kgf), being held only with the dominant hand. The results showed that in the last 12 months, only 32% of the elderly surveyed had no fall and the average handgrip strength was 24.32 ( 11.22 kgf; 40% had one fall and the average handgrip strength was 23.82 ( 10.18 kgf; 8% had two falls and the average handgrip strength was 19.48 ( 8.21 kgf and 20% had more than one fall and the average handgrip strength of 18.13 ( 7.33 Kgf., indicating that the force levels are statistically lower among elderly at high risk of falls (p> 0.05). It was concluded that the lower the force level, the greater the likelihood of falls. Thus, it is important to stress that due to the loss of muscle strength, all ergonomic hazards and architectural barriers must be removed so that older adults can perform their tasks more easily, with comfort and safety.


Subject(s)
Accidental Falls , Muscle Strength , Risk Assessment/methods , Accidental Falls/prevention & control , Aged , Aged, 80 and over , Brazil , Female , Hand Strength/physiology , Homes for the Aged , Humans , Male , Risk Factors
11.
Work ; 41 Suppl 1: 907-14, 2012.
Article in English | MEDLINE | ID: mdl-22316837

ABSTRACT

This study aimed to assess the student-furniture interface from anthropometric parameters of the sitting posture. The sample was composed of 887 students from two public schools in the State of Parana-Brazil, which attended children from 7 to 17 years of age. The data collection used anthropometric measures of the sitting position, a questionnaire containing a human body diagram for indication of discomfort areas and photographic records to verify postural and ergonomic inadequacies in classroom. The following anthropometric variables were measured: popliteal height, sacro-popliteal length, hip width, lumbar support height, and elbow and thigh height. Percentiles 5 and 95 of anthropometric variables showed differences statistically significant, with variation coefficient greater than 30%. In relation to body discomfort, the highest occurrences were recorded for ankle, knees and shoulder joints as well as for spine and buttocks. It was concluded that children use school furniture that does not meet their anthropometric standards, which favored the adoption of incorrect postures and contributed to the emergence of musculoskeletal problems that can interfere with their educational process.


Subject(s)
Anthropometry , Interior Design and Furnishings , Musculoskeletal Pain/etiology , Schools , Adolescent , Biomechanical Phenomena , Child , Ergonomics , Humans , Male , Photography , Posture , Surveys and Questionnaires
12.
Plant Biol (Stuttg) ; 13(3): 546-50, 2011 May.
Article in English | MEDLINE | ID: mdl-21489107

ABSTRACT

Tomato high pigment (hp) mutants represent an interesting horticultural resource due to their enhanced accumulation of carotenoids, flavonoids and vitamin C. Since hp mutants are known for their exaggerated light responses, the molecules accumulated are likely to be antioxidants, recruited to deal with light and others stresses. Further phenotypes displayed by hp mutations are reduced growth and an apparent disturbance in water loss. Here, we examined the impact of the hp1 mutation and its near isogenic line cv Micro-Tom (MT) on stomatal conductance (gs), transpiration (E), CO(2) assimilation (A) and water use efficiency (WUE). Detached hp1 leaves lost water more rapidly than control leaves, but this behaviour was reversed by exogenous abscisic acid (ABA), indicating the ability of hp1 to respond to this hormone. Although attached hp1 leaves had enhanced gs, E and A compared to control leaves, genotypic differences were lost when water was withheld. Both instantaneous leaf-level WUE and long-term whole plant WUE did not differ between hp1 and MT. Our results indicate a link between exaggerated light response and water loss in hp1, which has important implications for the use of this mutant in both basic and horticultural research.


Subject(s)
Plant Transpiration/physiology , Solanum lycopersicum/physiology , Abscisic Acid/metabolism , Abscisic Acid/pharmacology , Adaptation, Ocular , Carbon Dioxide/metabolism , Genetic Variation , Solanum lycopersicum/genetics , Solanum lycopersicum/metabolism , Mutation , Photosynthesis , Plant Leaves/genetics , Plant Leaves/metabolism , Plant Leaves/physiology , Plant Stomata/physiology , Plant Transpiration/genetics , Water/metabolism
13.
Childs Nerv Syst ; 24(1): 99-104, 2008 Jan.
Article in English | MEDLINE | ID: mdl-17619885

ABSTRACT

INTRODUCTION: Maternal folic acid deficiency is the most important metabolic factor in the etiology of neural tube defects (NTD) and is reduced by ethanol, which is extensively consumed by young women. OBJECTIVE: The objective of the study was to determine whether folic acid supplementation in dietary saccharose is efficient in the prevention NTD induced by ethanol in fetuses of Swiss mice. MATERIALS AND METHODS: Pregnant mice were divided into four groups of six animals each: control (C), ethanol (E), deficient-supplemented (DS), and deficient-supplemented + ethanol (DSE). Groups C and E received commercial mouse chow (containing 3 mg/kg folic acid) throughout the experiment, while groups DS and DSE received a folic acid-free diet with the addition of saccharose supplemented with folic acid (2 mg/kg folic acid) in water. Group E and DSE animals received ethanol (4 g/kg) administered intraperitoneally from the seventh to the ninth gestational day (gd) and were euthanized on the 18th gd, while groups C and DS received saline. RESULTS: Congenital anomalies were observed in groups E and DSE. The fetal weight and length of the animals in group E were lower than in groups C and DS and, in group DSE, were lower than in groups C and DS. The placental diameter of group E was smaller than that of group C, and the placental weight of group C animals was lower than that of groups E, DSE, and DS. CONCLUSION: The study demonstrated that dietary supplementation with folate in saccharose is an accessible means of consumption that could be further diffused but in an increased dose than recommended to reduce the teratogenic effects of ethanol.


Subject(s)
Abnormalities, Drug-Induced/prevention & control , Ethanol/toxicity , Folic Acid/therapeutic use , Sucrose/chemistry , Administration, Oral , Animals , Central Nervous System Depressants/administration & dosage , Central Nervous System Depressants/toxicity , Dietary Supplements , Ethanol/administration & dosage , Female , Fetal Growth Retardation/chemically induced , Fetal Growth Retardation/prevention & control , Fetal Weight/drug effects , Folic Acid/administration & dosage , Folic Acid/chemistry , Gestational Age , Injections, Intraperitoneal , Male , Maternal Exposure , Mice , Neural Tube Defects/chemically induced , Neural Tube Defects/prevention & control , Pregnancy , Pregnancy Outcome , Prenatal Exposure Delayed Effects/chemically induced , Prenatal Exposure Delayed Effects/prevention & control
14.
Soc Reprod Fertil Suppl ; 64: 223-36, 2007.
Article in English | MEDLINE | ID: mdl-17491150

ABSTRACT

The adaptation of Bos indicus cattle to tropical and subtropical environments has led to their widespread distribution around the world. Although artificial insemination (AI) is one of the best alternatives to introduce new genetics into Bos indicus herds, the peculiarity of their temperament and the tendency to show short oestrus (many of them during the night) greatly affects the effectiveness of genetic improvement programs. Therefore, the most useful alternative to increase the number of females that are inseminated is the use of protocols that allow for AI without the need for oestrus detection, usually called fixed-time AI (FTAI). Besides, the development of protocols to advance the resumption of cyclicity during the early postpartum period has a great impact on beef production and will allow for the inclusion of a significantly larger population of animals into genetic improvement programs. Fixed-time AI protocols using progestin devices, oestradiol and eCG have resulted in consistent pregnancy rates in suckled Bos indicus and Bos indicus x Bos taurus cows. Furthermore, fertility in the successive cycles and the overall pregnancy rates at the end of the breeding season, have been shown to be improved by the use of progestin devices at the beginning of the breeding season. In summary, exogenous control of luteal and follicular development has facilitated the application of assisted reproductive technologies in Bos indicus-influenced cattle, by offering the possibility of planning programs without the necessity of oestrus detection and may provide the opportunity to improve reproductive performance of beef cattle in tropical climates.


Subject(s)
Cattle/physiology , Developing Countries , Insemination, Artificial/methods , Reproduction/physiology , Animals , Female , Pregnancy
15.
Placenta ; 27(6-7): 740-3, 2006.
Article in English | MEDLINE | ID: mdl-16026831

ABSTRACT

Gestational trophoblastic diseases are a group of interrelated diseases of trophoblastic tissue that include partial hydatidiform mole, complete hydatidiform mole, invasive mole, choriocarcinoma, and placental site trophoblastic tumor. P63 is a p53 homologue that, in normal placentas, is expressed in the cytotrophoblast cells. The role of p63 in gestational trophoblastic diseases, however, merits further investigation. Immunohistochemistry with the p63 antibody (clone 4A4) was performed in formalin-fixed paraffin-embedded samples of hydropic abortion (n=10), partial hydatidiform mole (n=12), complete hydatidiform mole (n=12) and choriocarcinoma (n=5). P63 expression was quantitatively assessed as 0 (no stained cells), + (less than 10% positive cells), ++ (10-50% positive cells), and +++ (more than 50% positive cells). The intensity was scored as 0 (absence), + (weak), ++ (moderate), or +++ (strong). Statistical analysis was carried out by the Fisher test. In contrast to the other diagnoses, none of the choriocarcinomas analyzed exhibited p63-positive cells. There was no difference in distribution of p63 positive cells between hydropic abortion, partial hydatidiform mole, and complete hydatidiform mole. Concerning the intensity of immunostaining, there was difference only between partial hydatidiform mole and complete hydatidiform mole. According to our results, p63 might be useful to differentiate a choriocarcinoma from other gestational trophoblastic diseases. Besides, since the intensity of p63 expression was much stronger in partial hydatidiform mole and complete hydatidiform mole than in hydropic abortion, this feature may be helpful in distinguishing these two diagnoses in challenging cases.


Subject(s)
Abortion, Spontaneous/metabolism , Choriocarcinoma/metabolism , Hydatidiform Mole/metabolism , Membrane Proteins/metabolism , Trophoblasts/metabolism , Uterine Neoplasms/metabolism , Abortion, Spontaneous/pathology , Adult , Biomarkers/metabolism , Cell Count , Choriocarcinoma/pathology , Female , Gestational Age , Humans , Hydatidiform Mole/pathology , Pregnancy , Staining and Labeling , Trophoblasts/pathology , Uterine Neoplasms/pathology
16.
Braz. j. med. biol. res ; 37(5): 635-642, May 2004. ilus, tab
Article in English | LILACS | ID: lil-357542

ABSTRACT

The objective of the present study was to develop a simplified low cost method for the collection and fixation of pediatric autopsy cells and to determine the quantitative and qualitative adequacy of extracted DNA. Touch and scrape preparations of pediatric liver cells were obtained from 15 cadavers at autopsy and fixed in 95 percent ethanol or 3:1 methanol:acetic acid. Material prepared by each fixation procedure was submitted to DNA extraction with the Wizard© genomic DNA purification kit for DNA quantification and five of the preparations were amplified by multiplex PCR (azoospermia factor genes). The amount of DNA extracted varied from 20 to 8,640 æg, with significant differences between fixation methods. Scrape preparation fixed in 95 percent ethanol provided larger amount of extracted DNA. However, the mean for all groups was higher than the quantity needed for PCR (50 ng) or Southern blot (500 ng). There were no qualitative differences among the different material and fixatives. The same results were also obtained for glass slides stored at room temperature for 6, 12, 18 and 24 months. We conclude that touch and scrape preparations fixed in 95 percent ethanol are a good source of DNA and present fewer limitations than cell culture, tissue paraffin embedding or freezing that require sterile material, culture medium, laboratory equipment and trained technicians. In addition, they are more practical and less labor intensive and can be obtained and stored for a long time at low cost.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Congenital Abnormalities , DNA , Hepatocytes , Specimen Handling , Tissue Fixation , Autopsy , Polymerase Chain Reaction
17.
Braz J Med Biol Res ; 37(5): 635-42, 2004 May.
Article in English | MEDLINE | ID: mdl-15107923

ABSTRACT

The objective of the present study was to develop a simplified low cost method for the collection and fixation of pediatric autopsy cells and to determine the quantitative and qualitative adequacy of extracted DNA. Touch and scrape preparations of pediatric liver cells were obtained from 15 cadavers at autopsy and fixed in 95% ethanol or 3:1 methanol:acetic acid. Material prepared by each fixation procedure was submitted to DNA extraction with the Wizard genomic DNA purification kit for DNA quantification and five of the preparations were amplified by multiplex PCR (azoospermia factor genes). The amount of DNA extracted varied from 20 to 8,640 microg, with significant differences between fixation methods. Scrape preparation fixed in 95% ethanol provided larger amount of extracted DNA. However, the mean for all groups was higher than the quantity needed for PCR (50 ng) or Southern blot (500 ng). There were no qualitative differences among the different material and fixatives. The same results were also obtained for glass slides stored at room temperature for 6, 12, 18 and 24 months. We conclude that touch and scrape preparations fixed in 95% ethanol are a good source of DNA and present fewer limitations than cell culture, tissue paraffin embedding or freezing that require sterile material, culture medium, laboratory equipment and trained technicians. In addition, they are more practical and less labor intensive and can be obtained and stored for a long time at low cost.


Subject(s)
Congenital Abnormalities/diagnosis , DNA/isolation & purification , Hepatocytes , Specimen Handling/methods , Tissue Fixation/methods , Autopsy , Child, Preschool , DNA/genetics , Female , Humans , Infant , Infant, Newborn , Male , Polymerase Chain Reaction , Specimen Handling/economics , Tissue Fixation/economics
18.
Clin Dysmorphol ; 12(2): 143-4, 2003 Apr.
Article in English | MEDLINE | ID: mdl-12868481

ABSTRACT

Chylothorax and colobomas are uncommon features reported in Noonan syndrome. We describe an infant with Noonan phenotype, congenital chylothorax and a unilateral iris coloboma. The presence of these both abnormalities in the same patient has not previously been reported.


Subject(s)
Chylothorax/physiopathology , Coloboma/physiopathology , Iris/abnormalities , Noonan Syndrome/physiopathology , Humans , Infant , Male
19.
Genet Couns ; 12(1): 69-75, 2001.
Article in English | MEDLINE | ID: mdl-11332980

ABSTRACT

We describe a patient in whom full monosomy 21 was initially assumed from routine GTG banded karyotyping. Re-examination with chromosome painting demonstrated an unbalanced translocation between the long arms of chromosomes 11 and 21. Fluorescence in situ hybridization (FISH) and microsatellite marker analysis revealed partial monosomy of chromosome 21 (pter-q22.2) and 11 (q24-qter). The patient was prematurely born in the 31st week of gestation and expired 3 days after delivery. She showed multiple minor anomalies, a complex cardio-vascular malformation, intestinal malrotation and cerebellar hypoplasia.


Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 11 , Chromosomes, Human, Pair 21 , Infant, Premature , Monosomy , Translocation, Genetic , Adult , Chromosome Painting , Cytogenetic Analysis , Female , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Male , Microsatellite Repeats
20.
Clin Dysmorphol ; 9(2): 99-101, 2000 Apr.
Article in English | MEDLINE | ID: mdl-10826619

ABSTRACT

We report a preterm male infant, the first child of a young consanguineous couple, whose physical examination revealed craniofacial disproportion with microcephaly, wide fontanelles, exophthalmos, low nasal root and hypoplastic nose, long philtrum, small mouth, high arched and narrow palate, micrognathia, dysplastic, low-set and rounded ears, short neck and, arthrogryposis. Postmortem findings included hypoplastic lungs. Radiological examinations showed mild and localized increased of bone density in the cranial vault and skull base and facial bones and undermodelled in the long bones. The above findings are characteristics of Raine dysplasia but the case reported here presents a mild bone involvement with only a localized bone sclerosis and absence of prenatal fractures. We discuss the possibility that this case represents an allelic mutation of the Raine gene. The consanguinity of the parents reinforces the hypothesis of autosomal recessive inheritance for this entity.


Subject(s)
Abnormalities, Multiple/diagnostic imaging , Facial Bones/abnormalities , Microcephaly/diagnostic imaging , Osteosclerosis/diagnostic imaging , Abnormalities, Multiple/genetics , Arthrogryposis/diagnostic imaging , Arthrogryposis/genetics , Brazil , Exophthalmos/diagnostic imaging , Exophthalmos/genetics , Fatal Outcome , Genes, Dominant , Humans , Infant, Newborn , Infant, Premature , Male , Microcephaly/genetics , Osteosclerosis/genetics , Radiography , Skull/abnormalities
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