Mycobacterium tuberculosis Infection in Young Children: Analyzing the Performance of the Diagnostic Tests

This study evaluated the performance of the Tuberculin Skin Test (TST) and Quantiferon-TB Gold in-Tube (QFT) and the possible association of factors which may modify their results in young children (0-6 years) with recent contact with an index tuberculosis case. Materials and Methods: A cross-sectional study including 135 children was conducted in Manaus, Amazonas-Brazil. The TST and QFT were performed and the tests results were analyzed in relation to the personal characteristics of the children studied and their relationship with the index case. Results: The rates of positivity were 34.8% (TST) and 26.7% (QFT), with 14.1% of indeterminations by the QFT. Concordance between tests was fair (Kappa = 0.35 P<0.001). Both the TST and QFT were associated with the intensity of exposure (Linear OR = 1.286, P = 0.005; Linear OR = 1.161, P = 0.035 respectively) with only the TST being associated with the time of exposure (Linear OR = 1.149, P = 0.009). The presence of intestinal helminths in the TST+ group was associated with negative QFT results (OR = 0.064, P = 0.049). In the TST- group lower levels of ferritin were associated with QFT+ results (Linear OR = 0.956, P = 0.036). Conclusions: Concordance between the TST and QFT was lower than expected. The factors associated with the discordant results were intestinal helminths, ferritin levels and exposure time to the index tuberculosis case. In TST+ group, helminths were associated with negative QFT results suggesting impaired cell-mediated immunity. The TST-&QFT+ group had a shorter exposure time and lower ferritin levels, suggesting that QFT is faster and ferritin may be a potential biomarker of early stages of tuberculosis infection.

A Diagnostic view of the Genetics of CASADIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL, OMIM #125310) is an inherited vascular disease. The main symptoms include migraineous headache, recurrent strokes and progressive cognitive impairment. CADASIL is caused by mutations in the NOTCH3 gene which result in degeneration of vascular smooth muscle cells, arteriolar stenosis and impaired cerebral blood flow. The aims of this study were assessment of the genetic background of Finnish and Swedish CADASIL patients, analysis of genetic and environmental factors that may influence the phenotype, and identification of the optimal diagnostic strategy. The majority of Finnish CADASIL patients carry the p.Arg133Cys mutation. Haplotype analysis of 18 families revealed a region of linkage disequilibrium around the NOTCH3 locus, which is evidence for a founder effect and a common ancestral mutation. Despite the same mutational background, the clinical course of CADASIL is highly variable between and even within families. The association of several genetic factors with the phenotypic variation was investigated in 120 CADASIL patients. Apolipoprotein E allele 4 was associated with earlier occurrence of strokes, especially in younger patients. Study of a pair of monozygotic twins with CADASIL revealed environmental factors which may influence the phenotype, i.e. smoking, statin medication and physical activity. Knowledge of these factors is useful, since life-style choices may influence the disease progression. The clinical CADASIL diagnosis can be confirmed by detection of either the NOTCH3 mutation or granular osmiophilic material by electron microscopy in skin biopsy, although the sensitivity estimates have been contradictory. Comparison of these two methods in a group of 131 diagnostic cases from Finland, Sweden and France demonstrated that both methods are highly sensitive and reliable.

Osteoclastic tartrate-resistant acid phosphatase 5b. Diagnostic use and biological significance in bone physiology

The skeleton undergoes continuous turnover throughout life. In women, an increase in bone turnover is pronounced during childhood and puberty and after menopause. Bone turnover can be monitored by measuring biochemical markers of bone resorption and bone formation. Tartrate-resistant acid phosphatase (TRACP) is an enzyme secreted by osteoclasts, macrophages and dendritic cells. The secreted enzyme can be detected from the blood circulation by recently developed immunoassays. In blood circulation, the enzyme exists as two isoforms, TRACP 5a with an intact polypeptide chain and TRACP 5b in which the polypeptide chain consists of two subunits. The 5b form is predominantly secreted by osteoclasts and is thus associated with bone turnover. The secretion of TRACP 5b is not directly related to bone resorption; instead, the levels are shown to be proportional to the number of osteoclasts. Therefore, the combination of TRACP 5b and a marker reflecting bone degradation, such as C-terminal cross-linked telopeptides of type I collagen (CTX), enables a more profound analysis of the changes in bone turnover. In this study, recombinant TRACP 5a-like protein was proteolytically processed into TRACP 5b-like two subunit form. The 5b-like form was more active both as an acid phosphatase and in producing reactive oxygen species, suggesting a possible function for TRACP 5b in osteoclastic bone resorption. Even though both TRACP 5a and 5b were detected in osteoclasts, serum TRACP 5a levels demonstrated no change in response to alendronate treatment of postmenopausal women. However, TRACP 5b levels decreased substantially, demonstrating that alendronate decreases the number of osteoclasts. This was confirmed in human osteoclast cultures, showing that alendronate decreased the number of osteoclats by inducing osteoclast apoptosis, and TRACP 5b was not secreted as an active enzyme from the apoptotic osteoclasts. In peripubertal girls, the highest levels of TRACP 5b and other bone turnover markers were observed at the time of menarche, whereas at the same time the ratio of CTX to TRACP 5b was lowest, indicating the presence of a high number of osteoclasts with decreased resorptive activity. These results support the earlier findings that TRACP 5b is the predominant form of TRACP secreted by osteoclasts. The major source of circulating TRACP 5a remains to be established, but is most likely other cells of the macrophage-monocyte system. The results also suggest that bone turnover can be differentially affected by both osteoclast number and their resorptive activity, and provide further support for the possible clinical use of TRACP 5b as a marker of osteoclast number.

Molecular Characteristics of Neuroblastoma with Special Reference to Novel Prognostic Factors and Diagnostic Applications

Molecular Characteristics of Neuroblastoma with Special Reference to Novel Prognostic Factors and Diagnostic Applications Department of Medical Biochemistry and Genetics Annales Universitatis Turkuensis, Medica-Odontologica, 2009, Turku, Finland Painosalama Oy, Turku, Finland 2009 Background: Neuroblastoma, which is the most common and extensively studied childhood solid cancer, shows a great clinical and biological heterogeneity. Most of the neuroblastoma patients older than one year have poor prognosis despite intensive therapies. The hallmark of neuroblastoma, biological heterogeneity, has hindered the discovery of prognostic tumour markers. At present, few molecular markers, such as MYCN oncogene status, have been adopted into clinical practice. Aims: The aim of the study was to improve the current prognostic methodology of neuroblastoma, especially by taking cognizance of the biological heterogeneity of neuroblastoma. Furthermore, unravelling novel molecular characteristics which associate with neuroblastoma tumour progression and cell differentiation was an additional objective. Results: A new strictly defined selection of neuroblastoma tumour spots of highest proliferation activity, hotspots, appeared to be representative and reliable in an analysis of MYCN amplification status using a chromogenic in situ hybridization technique (CISH). Based on the hotspot tumour tissue microarray immunohistochemistry and high-resolution oligo-array-based comparative genomic hybridization, which was integrated with gene expression and in silico analysis of existing transcriptomics, a polysialylated neural cell adhesion molecule (NCAM) and poorly characterized amplicon at 12q24.31 were discovered to associate with outcome. In addition, we found that a previously considered new neuroblastoma treatment target, the mutated c-kit receptor, was not mutated in neuroblastoma samples. Conclusions: Our studies indicate polysialylated NCAM and 12q24.31 amplicon to be new molecular markers with important value in prognostic evaluation of neuroblastoma. Moreover, the presented hotspot tumour tissue microarray method together with the CISH technique of the MYCN oncogene copy number is directly applicable to clinical use. Key words: neuroblastoma, polysialic acid, neural cell adhesion molecule, MYCN, c-kit, chromogenic in situ hybridization, hotspot

Sensitive Troponin Assays: Diagnostic and Prognostic Use in Cardiology

Cardiac troponins (cTns) are the recommended biochemical markers in the diagnosis of myocardial infarction (MI). They are very sensitive and tissue-specific but are limited by their delayed appearance in the circulation. Biochemical markers with more rapid release kinetics, e.g. myoglobin and especially heart-type fatty acid-binding protein (H-FABP), have been used to enhance the early identification of MI. The implementation of cTns into clinical practice has shown that cardiomyocyte injury occurs in many other clinical conditions than MI. The aim of this study was to evaluate the impact of modern and highly sensitive cTnI assays on the early diagnosis of MI. In a patient cohort with suspected MI, such a sensitive cTnI assay enhanced the early diagnostic accuracy when compared to a less sensitive cTnI assay and to myoglobin. When compared to H-FABP during the early hours after symptom onset, the sensitive cTnI assay showed at least similar and, after 6 hours, superior diagnostic accuracy. A positive cTnI test result had superior prognostic value when compared to H-FABP, even among early presenters. The prognostic value of cTn in acute heart failure (AHF) was evaluated in 364 patients who participated in the FINN-AKVA study. The patients presented with AHF but no acute coronary syndrome (ACS). Up to half of the patients had elevated cTn levels which were associated with higher 6-month mortality. The magnitude of cTn elevation was directly proportional to mortality. Finally, the clinical spectrum of cTnI elevations was evaluated in 991 cTnI positive emergency department (ED) patients. 83% of the patients had MI and 17% had cTnI elevation due to other clinical conditions. The latter patient group was characterized by lower absolute cTnI levels and – importantly – higher in-hospital mortality when compared to the MI patients. In conclusion, the use of a highly sensitive cTnI assay enhances the early diagnostic accuracy and risk stratification in suspected MI patients. Cardiac troponin elevations are highly prevalent also in other acute clinical conditions and indicate an adverse outcome of these patients.

Periodic inspection of sprayers: diagnostic to the northern of Paraná

To optimize the use of pesticides, several countries have carried out periodic inspections in agricultural sprayers. In Brazil, knowing the conditions of this machinery canguide researches and investments in guidelines for its use and maintenance. The objective of this study was to verify the state of sprayer maintenance used in the North of the state of Paraná, in Brazil. Several sprayer items were evaluated, such as: presence, status and scale of the manometer, status of the hose, status of the anti-drip component, presence of leaks, status of the bar, status of the filters, state of the spraying nozzles and errors in the targeted flow rate. Machines were named as approved when there was no failure in any item evaluated. The factor that caused the biggest level of reprove among the machines was incorrect scale of manometers, which reproved 84.55% of the machines evaluated. Other outstanding factor was the incorrect flow rate in 75.5% of the tested machines. Only one unit was approved from the total of 110 evaluated sprayers.

Molecular diagnostics of rare inherited SYNDROMES with a view on diagnostic test development

CHARGE syndrome, Sotos syndrome and 3p deletion syndrome are examples of rare inherited syndromes that have been recognized for decades but for which the molecular diagnostics only have been made possible by recent advances in genomic research. Despite these advances, development of diagnostic tests for rare syndromes has been hindered by diagnostic laboratories having limited funds for test development, and their prioritization of tests for which a (relatively) high demand can be expected. In this study, the molecular diagnostic tests for CHARGE syndrome and Sotos syndrome were developed, resulting in their successful translation into routine diagnostic testing in the laboratory of Medical Genetics (UTUlab). In the CHARGE syndrome group, mutation was identified in 40.5% of the patients and in the Sotos syndrome group, in 34%, reflecting the use of the tests in routine diagnostics in differential diagnostics. In CHARGE syndrome, the low prevalence of structural aberrations was also confirmed. In 3p deletion syndrome, it was shown that small terminal deletions are not causative for the syndrome, and that testing with arraybased analysis provides a reliable estimate of the deletion size but benign copy number variants complicate result interpretation. During the development of the tests, it was discovered that finding an optimal molecular diagnostic strategy for a given syndrome is always a compromise between the sensitivity, specificity and feasibility of applying a new method. In addition, the clinical utility of the test should be considered prior to test development: sometimes a test performing well in a laboratory has limited utility for the patient, whereas a test performing poorly in the laboratory may have a great impact on the patient and their family. At present, the development of next generation sequencing methods is changing the concept of molecular diagnostics of rare diseases from single tests towards whole-genome analysis.

Comparison of three diagnostic techniques for the detection of leptospires in the kidneys of wild house mice (Mus musculus)

Forty-one wild house mice (Mus musculus) were trapped in an urban area, near railways, in Santa Fe city, Argentina. Both kidneys from each mouse were removed for bacteriological and histological examination. One kidney was inoculated into Fletcher semi-solid medium and isolates were serologically typed. The other kidney was microscopically examined after hematoxylin-eosin, silver impregnation and immunohistochemical stains. Leptospires, all of them belonging to the Ballum serogroup, were isolated from 16 (39%) out of 41 samples. The presence of the agent was recorded in 18 (44%) and in 19 (46%) out of 41 silver impregnated and immunohistochemically stained samples respectively. Additionally, leptospires were detected in high number on the apical surface of epithelial cells and in the lumen of medullary tubules and they were less frequently seen on the apical surface of epithelial cells or in the lumen of the cortical tubules, which represents an unusual finding in carrier animals. Microscopic lesions consisting of focal mononuclear interstitial nephritis, glomerular shrinkage and desquamation of tubular epithelial cells were observed in 13 of 19 infected and in 10 of 22 non-infected mice; differences in presence of lesions between infected and non-infected animals were not statistically significant (P=0,14). The three techniques, culture, silver impregnation and immunohistochemistry, had a high agreement (k³0.85) and no significant differences between them were detected (P>0.05). In addition, an unusual location of leptospires in kidneys of carrier animals was reported, but a relationship between lesions and presence of leptospires could not be established.

Accuracy Analysis of Frequency Converter Estimates in Diagnostic Applications

Transportation of fluids is one of the most common and energy intensive processes in the industrial and HVAC sectors. Pumping systems are frequently subject to engineering malpractice when dimensioned, which can lead to poor operational efficiency. Moreover, pump monitoring requires dedicated measuring equipment, which imply costly investments. Inefficient pump operation and improper maintenance can increase energy costs substantially and even lead to pump failure. A centrifugal pump is commonly driven by an induction motor. Driving the induction motor with a frequency converter can diminish energy consumption in pump drives and provide better control of a process. In addition, induction machine signals can also be estimated by modern frequency converters, dispensing with the use of sensors. If the estimates are accurate enough, a pump can be modelled and integrated into the frequency converter control scheme. This can open the possibility of joint motor and pump monitoring and diagnostics, thereby allowing the detection of reliability-reducing operating states that can lead to additional maintenance costs. The goal of this work is to study the accuracy of rotational speed, torque and shaft power estimates calculated by a frequency converter. Laboratory tests were performed in order to observe estimate behaviour in both steady-state and transient operation. An induction machine driven by a vector-controlled frequency converter, coupled with another induction machine acting as load was used in the tests. The estimated quantities were obtained through the frequency converter’s Trend Recorder software. A high-precision, HBM T12 torque-speed transducer was used to measure the actual values of the aforementioned variables. The effect of the flux optimization energy saving feature on the estimate quality was also studied. A processing function was developed in MATLAB for comparison of the obtained data. The obtained results confirm the suitability of this particular converter to provide accurate enough estimates for pumping applications.

Diagnostic value of copper parameters to predict growth of suckling calves grazing native range in Argentina

A study was conducted to evaluate the predictive diagnostic value of different copper (Cu) parameters as indicators of average daily gain (ADG) in growing calves. The effects in calves of cow Cu supplementation in the last one-third gestation period were also evaluated. Five supplementation trials, with a total of 300 calves, were carried out. Two groups of 30 calves were randomly assigned to each trial, one group was parenterally supplemented (SG) and the other was not supplemented (NSG). Trials began when calves were three-month-old and ended at weaning time. At each sampling calves were weighed and blood was taken to determine Cu concentrations in plasma, Whole Blood (WB), Red Cells (RC) and Packed Cell Volume (PCV). Liver samples from six animals of each group were taken both at the beginning and at the end of the trial. In two trials the mothers of the SG received Cu supplementation at the last one- third gestation period. Four of the five trials exhibited low ADG in the NSGs. In these groups, plasma Cu concentration decreased rapidly before low ADG was detected, which occurred with values remaining below 25µg/dl. The decrease of RC Cu concentration was considerably slow. WB showed an intermediate position. PCV in the SGs was higher than in the NSGs in all trials. Cow supplementation was insufficient to generate a liver storage able to last after calves reached the 3 months of age. These data could be useful to predict the risk of low ADG in grazing calves.

Serologic and molecular diagnostic and bioassay in mice for detection of Toxoplasma gondii in free ranges chickens from Pantanal of Mato Grosso do Sul

The aim of this study was to investigate the occurrence of Toxoplasma gondii and compare the results obtained in the Modified Agglutination Test (MAT), Polimerase Chain Reaction (PCR) and bioassay in mice. In order to accomplish this, 40 free-range chickens from eight farms in neighboring areas to the Pantanal in Nhecolândia, Mato Grosso do Sul, were euthanized and blood samples, brain and heart were collected. The occurrence of anti-T. gondii antibodies found in chickens was 67.5% (27 samples), considering as a cutoff point the dilution 1:5. Among the samples analyzed, 7 (25.9%) were positive in the dilution 1:5, 3 (11.1%) in 1:10, 2 (7.4%) in 1:20, 3 (11.1%) in 1:320, 1 ( 3.7%) in 1:640, 3 (11.1%) in 1:1280, 2 (7.4%) in 1:2560, 4 (14.8%) in 1:5120 and 2 (7.4%) in 1:10.240. From the mixture of tissue samples (brain and heart) from the chickens analyzed, 16 (40%) presented electrophoretic bands compatible with T. gondii by PCR (gene B1). In the comparison of techniques, 59.26% positivity in PCR was revealed among animals that were seropositive in MAT (cutoff 1:5). From 141 inoculated mice, six (4.44%) died of acute toxoplasmosis between 15 and 23 days after inoculation. Surviving mice were sacrificed at 74 days after inoculation, and a total of 28 cysts were found in the brains of 10 distinct groups. From the seropositive hens, 27 bioassays were performed and 11 (40.7%) isolates were obtained. A greater number of isolations happened in mice that were inoculated with tissues from chickens that had high titers for anti-T. gondii antibodies. Chronic infection in mice was observed in nine groups (33.3%) from five different properties. Among the surviving mice, 25.6% were positive for T. gondii in MAT (1:25). From mice positive in PCR, 87.5% were also positive in MAT. Among the PCR-negative mice, 5.2% were positive for T. gondii in MAT. It can be concluded through this study that the occurrence of infecton by T. gondii in the rural properties studied was high, that PCR directed to gene B1 does not confirm the viability of the parasite, but it can be used as a screening method for the selection of chickens infected by T. gondii, that the animals with titer greater than 10 must be prioritized for the selection of animals for bioassay, since for them, the chances of isolating the parasite are greater and that seroconversion in experimentally infected mice is not a good indicator for isolating the agent.

Eimeria spp. from Japanese quails (Coturnix japonica): new characteristic features and diagnostic tools

The Japanese quail Coturnix japonica originated from North Africa, Europe and Asia, is used worldwide as an experimental animal and model for aviculture. The current paper characterizes Eimeria bateri, Eimeria tsunodai and Eimeria uzura recovered from C. japonica. Based on the fact that quails have a global distribution, as are their coccidia, the findings of this study should provide the means for diagnosis of those Eimeria spp. in other regions and continents. Eimeria bateri showed the greatest intensity of infection and shed oocysts from the fourth day after infection; in contrast, E. tsunodai and E. uzura shed oocysts from the fifth day after infection. The three species shared a high degree of similarity and were all polymorphic. Yet, the application of line regressions, histograms and ANOVA provided means for the identification of these species. Finally, the algorithm was very efficient since verified that resultant values were not superimposed.

Diffusion Tensor Imaging as a Diagnostic and Research Tool: A Study on Preterm Infants

Diffusion tensor imaging (DTI) is an advanced magnetic resonance imaging (MRI) technique. DTI is based on free thermal motion (diffusion) of water molecules. The properties of diffusion can be represented using parameters such as fractional anisotropy, mean diffusivity, axial diffusivity, and radial diffusivity, which are calculated from DTI data. These parameters can be used to study the microstructure in fibrous structure such as brain white matter. The aim of this study was to investigate the reproducibility of region-of-interest (ROI) analysis and determine associations between white matter integrity and antenatal and early postnatal growth at term age using DTI. Antenatal growth was studied using both the ROI and tract-based spatial statistics (TBSS) method and postnatal growth using only the TBSS method. The infants included to this study were born below 32 gestational weeks or birth weight less than 1,501 g and imaged with a 1.5 T MRI system at term age. Total number of 132 infants met the inclusion criteria between June 2004 and December 2006. Due to exclusion criteria, a total of 76 preterm infants (ROI) and 36 preterm infants (TBSS) were accepted to this study. The ROI analysis was quite reproducible at term age. Reproducibility varied between white matter structures and diffusion parameters. Normal antenatal growth was positively associated with white matter maturation at term age. The ROI analysis showed associations only in the corpus callosum. Whereas, TBSS revealed associations in several brain white matter areas. Infants with normal antenatal growth showed more mature white matter compared to small for gestational age infants. The gestational age at birth had no significant association with white matter maturation at term age. It was observed that good early postnatal growth associated negatively with white matter maturation at term age. Growth-restricted infants seemed to have delayed brain maturation that was not fully compensated at term, despite catchup growth.

Reflectance indices as a diagnostic tool for weed control performed by multipurpose equipment in precision agriculture

Several tools of precision agriculture have been developed for specific uses. However, this specificity may hinder the implementation of precision agriculture due to an increasing in costs and operational complexity. The use of vegetation index sensors which are traditionally developed for crop fertilization, for site-specific weed management can provide multiple utilizations of these sensors and result in the optimization of precision agriculture. The aim of this study was to evaluate the relationship between reflectance indices of weeds obtained by the GreenSeekerTM sensor and conventional parameters used for weed interference quantification. Two experiments were conducted with soybean and corn by establishing a gradient of weed interference through the use of pre- and post-emergence herbicides. The weed quantification was evaluated by the normalized difference vegetation index (NDVI) and the ratio of red to near infrared (Red/NIR) obtained using the GreenSeekerTM sensor, the visual weed control, the weed dry matter, and digital photographs, which supplied information about the leaf area coverage proportions of weed and straw. The weed leaf coverage obtained using digital photography was highly associated with the NDVI (r = 0.78) and the Red/NIR (r = -0.74). The weed dry matter also positively correlated with the NDVI obtained in 1 m linear (r = 0.66). The results indicated that the GreenSeekerTM sensor originally used for crop fertilization could also be used to obtain reflectance indices in the area between rows of crops to support decision-making programs for weed control.

Diagnosing Gender: Transitivity Analysis on the Diagnostic Category of Gender Dysphoria in DSM-5

Tässä tutkielmassa analysoidaan teoksessa ’Diagnostic and Statistical Manual of Men-tal Disorders, Fifth Edition’ (DSM-5) ja tarkemmin sen kappaleessa ’Gender Dysphoria’ käytettyä kieltä. DSM-5 on mielenterveydenalan ammattilaisille suunnattu luokittelu virallisesti tunnustetuista mielenterveyden häiriöistä ja se sisältää myös oireiden kuvai-luun perustuvat ohjeet näiden mielenterveyshäiriöiden diagnosoimiseksi. ’Gender dys-phoria’ (vapaasti suomennettuna sukupuolidysforia) on lääketieteellinen termi, joka viittaa biologisesta sukupuolesta eriävän sukupuoli-identiteetin aiheuttamaan henki-seen pahoinvointiin. Sukupuoli-identiteetin ja mielenterveysongelman yhdistäminen sisältää ideologisiin arvoihin pohjautuvia perusteluja ja tässä tutkielmassa analysoi-daan ’Gender Dysphoria’ – kappaleen ideologista sisältöä kriittisestä näkökulmasta. Tutkimuksen tarkastellaan ’Gender Dysphoria’ – kappaleessa käytetyn kielen ideologi-sia heijastumia ja niiden sosiaalisia vaikutuksia kolmen tutkimuskysymyksen avulla: 1) Kuinka diagnosoitu henkilö esitetään tekstissä? 2) Kuinka tekstissä rakennetaan kuvaa sukupuolidysforiasta mielenterveyshäiriönä? 3) Miten analyysin tulokset saattavat vai-kuttaa käsitykseen sukupuolen yhteydestä mielenterveyteen ja sukupuolidysforian diagnosoimiseen. Analyysissä käytetään metodina M. A. K. Hallidayn transitiivisuusteo-riaa ja tulosten sosiaalisia vaikutuksia analysoidaan Norman Faircloughn diskurssiana-lyysimallin avulla. Transitiivisuusanalyysin avulla tarkastellaan kirjoittajien tekemiä va-lintoja kielenkäytön suhteen, jotka Hallidayn teorian mukaan heijastavat kirjoittajien henkilökohtaisia kokemuksia ympäröivästä maailmasta. Tutkimus paljasti, että sukupuolidysforia esitetään mielenterveysongelmana erotta-malla se yksilöstä erilliseksi toimijaksi, joka suorittaa erilaisia prosesseja yksilön sisällä. Yksilöistä erityisesti lapset esitetään tekstissä voimakkaasti perinteisiin sukupuoliroo-leihin pohjautuvan ideologian valossa, joka heijastuu oireiden kuvailuun. Analyysi osoittaa myös logiikkaongelmia lasten oireiden kuvailussa, jotka johtavat ristiriitoihin oireiden ja mielenterveysongelman yhteydessä ja kumoavat perusteet, joiden pohjalta lapset diagnosoidaan. Tutkimuksen lopussa ehdotetaan, että sukupuolidysforiaan liit-tyvien diagnoosiohjeiden ja – kriteerien perusteita muokataan yleisesti sukupuoli-identiteetin itsemääräämisoikeuteen pohjautuvaksi ja lasten osalta tekstiin sisällytet-täisiin mahdollisia tieteellisiä perusteluja, jotka kumoaisivat diagnoosiohjeiden nyky-muodossaan sisältämät ristiriidat ja perustelisivat lasten diagnosoinnin oikeellisuuden