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1.
BMJ Case Rep ; 17(5)2024 May 22.
Artículo en Inglés | MEDLINE | ID: mdl-38782423

RESUMEN

A male infant born in a tertiary maternity facility was noted to have microretrognathia, a small mouth and macroglossia at delivery. He was born limp and apnoeic and required multiple attempts at intubation before a definitive airway was eventually sited. Chest X-rays, while in the paediatric intensive care unit, demonstrated dysplastic ribs with associated 'high-riding' clavicles. A later X-ray was reported as showing interrupted posterior ribs. A tracheostomy was formed on day of life 9 given the immediate risk to the baby's airway. Further imaging of the facial bones, skull and brain showed generous CSF spaces over the cerebral convexities and also marked hypoplasia of the mandible and mid-face. The baby's middle ear cavities were shown to be completely opacified. Genetic testing eventually went on to confirm a diagnosis of cerebrocostomandibular syndrome, with the detection of a pathogenic variant of the small nuclear ribonucleoprotein polypeptide B gene.


Asunto(s)
Anomalías Múltiples , Humanos , Masculino , Recién Nacido , Anomalías Múltiples/diagnóstico , Síndrome , Diagnóstico Diferencial , Traqueostomía
2.
J Fluency Disord ; 80: 106051, 2024 Mar 05.
Artículo en Inglés | MEDLINE | ID: mdl-38503059

RESUMEN

PURPOSE: This study aimed to identify what types of major discrimination have been experienced by adults who stutter throughout their lives, and investigate the association between the number of different types of major discrimination events experienced and quality of life. METHODS: Measures of quality of life (Kemp Quality of Life Scale) and major discrimination (adapted Major Experiences of Discrimination Scale) were completed by 303 adults who stutter. Correlational and regression analyses were conducted with these variables. RESULTS: A majority (56%) of the participants had experienced at least one episode of major discrimination due to stuttering during their lives. The major discrimination experiences most commonly reported included not being hired for a job and being discouraged by a teacher or advisor from pursuing certain careers or jobs because of stuttering. There was a significant negative relationship between quality of life and major discrimination. Increased major discrimination predicted lower quality of life even after taking into account demographic variables and severity of physical speech disruption. CONCLUSIONS: The findings of a negative association between major discrimination and quality of life add support to the notion that reducing societal stigma related to stuttering should be a priority of the field. Discriminatory practices of listeners constitute a social-environmental barrier to communicative participation and quality of life in people who stutter and should be addressed by professionals in the field of speech-language pathology and other stakeholders.

3.
EMBO Mol Med ; 16(2): 267-293, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38263527

RESUMEN

The uterus is a unique mucosal site where immune responses are balanced to be permissive of a fetus, yet protective against infections. Regulation of natural killer (NK) cell responses in the uterus during infection is critical, yet no studies have identified uterine-specific factors that control NK cell responses in this immune-privileged site. We show that the constitutive expression of IFNε in the uterus plays a crucial role in promoting the accumulation, activation, and IFNγ production of NK cells in uterine tissue during Chlamydia infection. Uterine epithelial IFNε primes NK cell responses indirectly by increasing IL-15 production by local immune cells and directly by promoting the accumulation of a pre-pro-like NK cell progenitor population and activation of NK cells in the uterus. These findings demonstrate the unique features of this uterine-specific type I IFN and the mechanisms that underpin its major role in orchestrating innate immune cell protection against uterine infection.


Asunto(s)
Células Asesinas Naturales , Útero , Femenino , Humanos , Feto , Interferones
4.
J Child Psychol Psychiatry ; 65(5): 644-655, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-37464862

RESUMEN

BACKGROUND: We investigated the effectiveness of Nurse-Family Partnership (NFP), a prenatal-to-age-two-years home-visiting programme, in British Columbia (BC), Canada. METHODS: For this randomised controlled trial, we recruited participants from 26 public health settings who were: <25 years, nulliparous, <28 weeks gestation and experiencing socioeconomic disadvantage. We randomly allocated participants (one-to-one; computer-generated) to intervention (NFP plus existing services) or comparison (existing services) groups. Prespecified outcomes were prenatal substance exposure (reported previously); child injuries (primary), language, cognition and mental health (problem behaviour) by age two years; and subsequent pregnancies by 24 months postpartum. Research interviewers were masked. We used intention-to-treat analyses. (ClinicalTrials.gov, NCT01672060.) RESULTS: From 2013 to 2016 we enrolled 739 participants (368 NFP, 371 comparison) who had 737 children. Counts for child injury healthcare encounters [rate per 1,000 person-years or RPY] were similar for NFP (223 [RPY 316.17]) and comparison (223 [RPY 305.43]; rate difference 10.74, 95% CI -46.96, 68.44; rate ratio 1.03, 95% CI 0.78, 1.38). Maternal-reported language scores (mean, M [SD]) were statistically significantly higher for NFP (313.46 [195.96]) than comparison (282.77 [188.15]; mean difference [MD] 31.33, 95% CI 0.96, 61.71). Maternal-reported problem-behaviour scores (M [SD]) were statistically significantly lower for NFP (52.18 [9.19]) than comparison (54.42 [9.02]; MD -2.19, 95% CI -3.62, -0.75). Subsequent pregnancy counts were similar (NFP 115 [RPY 230.69] and comparison 117 [RPY 227.29]; rate difference 3.40, 95% CI -55.54, 62.34; hazard ratio 1.01, 95% CI 0.79, 1.29). We observed no unanticipated adverse events. CONCLUSIONS: NFP did not reduce child injuries or subsequent maternal pregnancies but did improve maternal-reported child language and mental health (problem behaviour) at age two years. Follow-up of long-term outcomes is warranted given that further benefits may emerge across childhood and adolescence.


Asunto(s)
Estado de Salud , Salud Mental , Embarazo , Femenino , Niño , Adolescente , Humanos , Preescolar , Colombia Británica , Conducta Materna
5.
J Adolesc ; 96(2): 360-369, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38041580

RESUMEN

INTRODUCTION: Self-completed checklists measuring youth mental health problems produce dimensional scale scores and can be converted to categorical classifications representing the presence/absence of psychopathology. We test whether categorical classifications from scale scores are equivalent psychometrically to categorical classifications of the same problems obtained by lay-administered standardized structured diagnostic interviews. METHODS: The sample of n = 325 youth aged 12-18 (44% male) and their parent/caregivers come from combined test-retest reliability studies conducted in Ontario, Canada, from 2011 to 2015. Ontario Child Health Study Emotional Behavioural Scales-Brief Version (OCHS-EBS-B) scores converted to categorical classifications of emotional and behavioral problems were compared with interview classifications. We test hypotheses of statistical equivalence and inferiority, using a confidence interval approach to detect if differences lie within the smallest effect size of interest of ±0.18. We compare categorical classifications on: (1) test-retest reliability (Ò¡), (2) content validity (between-instrument agreement), and (3) construct validity (strength of association with three mental health-related constructs). RESULTS: Average test-retest reliabilities were 0.695 (checklists) and 0.670 (interviews). The reliability of checklist emotional problem classifications was not inferior to interview classifications and the difference in reliability between instruments for behavioral problems was small (-0.036). Average between-instrument agreement was Ò¡ = 0.586 (observed) and Ò¡ = 0.841 (corrected for attenuation due to measurement error) indicating high content overlap. Statistical equivalence criteria were met in 5 of 6 construct validity comparisons. CONCLUSIONS: Categorical classifications of emotional and behavioral problems from youth-reported checklists are, on balance, equivalent to interview classifications. Checklists represent a simple, brief, inexpensive alternative to interviews.


Asunto(s)
Trastornos Mentales , Problema de Conducta , Niño , Humanos , Masculino , Adolescente , Femenino , Trastornos Mentales/diagnóstico , Lista de Verificación , Reproducibilidad de los Resultados , Escalas de Valoración Psiquiátrica , Psicometría
6.
Hum Mol Genet ; 33(3): 270-283, 2024 Jan 20.
Artículo en Inglés | MEDLINE | ID: mdl-37930192

RESUMEN

While genome-wide association studies (GWAS) and positive selection scans identify genomic loci driving human phenotypic diversity, functional validation is required to discover the variant(s) responsible. We dissected the IVD gene locus-which encodes the isovaleryl-CoA dehydrogenase enzyme-implicated by selection statistics, multiple GWAS, and clinical genetics as important to function and fitness. We combined luciferase assays, CRISPR/Cas9 genome-editing, massively parallel reporter assays (MPRA), and a deletion tiling MPRA strategy across regulatory loci. We identified three regulatory variants, including an indel, that may underpin GWAS signals for pulmonary fibrosis and testosterone, and that are linked on a positively selected haplotype in the Japanese population. These regulatory variants exhibit synergistic and opposing effects on IVD expression experimentally. Alleles at these variants lie on a haplotype tagged by the variant most strongly associated with IVD expression and metabolites, but with no functional evidence itself. This work demonstrates how comprehensive functional investigation and multiple technologies are needed to discover the true genetic drivers of phenotypic diversity.


Asunto(s)
Isovaleril-CoA Deshidrogenasa , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH , Humanos , Isovaleril-CoA Deshidrogenasa/genética , Oxidorreductasas/genética , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/genética , Estudio de Asociación del Genoma Completo , Expresión Génica
8.
J Fluency Disord ; 78: 106020, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37948902

RESUMEN

PURPOSE: This study aimed to adapt the Self-Stigma of Stuttering Scale (4S) into Turkish and evaluate its factor structure, reliability, and validity in Turkish culture. METHODS: The original 4S scale was translated into Turkish (4S-TR) using a forward-backward translation technique and was administered to 350 adults who stutter (AWS). To discover latent variables evaluated on the scale, two-factor analyses were performed. Internal consistency and temporal stability were calculated to ensure reliability. Test-retest reliability correlation scores were calculated with multiple applications of the scale within about two weeks. To verify construct validity, participants also completed the Turkish versions of the Self-Esteem Rating Scale-Short Form (BSDÖ-KF) and the Satisfaction with Life Scale(YDÖ). RESULTS: The explanatory factor analysis showed three factors explaining 74.76 % of the total variance. The findings were also validated by confirmatory factor analysis. High levels of internal consistency (r = .89) and test-retest reliability (r = .96) were obtained. In terms of construct validity, our findings revealed that self-stigma has a significant negative correlation with self-esteem (r = -.41) and life satisfaction (r = -.38) as was predicted. CONCLUSIONS: The findings demonstrate preliminary evidence that the 4S-TR is a viable and valid instrument for self-stigma evaluation in three domains (stigma awareness, stereotype agreement, and self-concurrence). The 4S-TR can be applied for research and clinical purposes in Turkish.


Asunto(s)
Tartamudeo , Adulto , Humanos , Tartamudeo/diagnóstico , Reproducibilidad de los Resultados , Psicometría/métodos , Estigma Social , Estereotipo , Encuestas y Cuestionarios
9.
JCEM Case Rep ; 1(6): luad130, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38021077

RESUMEN

Aplasia cutis congenita (ACC) is one of several congenital malformations associated with antithyroid/thiourylene drug use in pregnancy. While uncommon among the general population (1-3/100 000 cases), the risk among those on thiourylenes is between 1.6% and 3%. The scalp is the most common site for this congenital anomaly. We present the case of a male infant with multifocal ACC of the scalp discovered at birth and born to a mother with Graves disease that was controlled during pregnancy using carbimazole. Thyroid function tests were normal throughout the pregnancy. There was no involvement of underlying subcutaneous tissue or structures. At age 18 months, the single largest lesion remained with only partial coverage. Prospective management involved periodic surveillance with planned 2-stage repair. This case reinforces the association between the antithyroid drugs carbimazole (CMZ) and methimazole (MMI) and supports the proposition of an MMI/CMZ embryopathy. It adds to a literature of case reports in which malformations arise in offspring of such mothers whose thyrotoxicosis is controlled antenatally, thereby challenging the suggestion that ACC is attributable to poorly controlled disease rather than thiourylenes. As yet the underlying mechanism is not understood, nor is it known why MMI and CMZ may cause potentially significant embryopathy while congenital defects attributable to the structurally similar propylthiouracil are typically less severe.

10.
Vaccine ; 41(41): 5987-5993, 2023 09 22.
Artículo en Inglés | MEDLINE | ID: mdl-37633752

RESUMEN

BACKGROUND: The rate of anaphylaxis following COVID-19 vaccinations is estimated to be 2-11 cases per million doses administered. However, adrenaline is occasionally used in individuals who are later diagnosed with immunisation stress-related responses, as their initial presenting signs and symptoms can appear similar to that of anaphylaxis. This study aims to describe the clinical profile of individuals who had received adrenaline following a COVID-19 vaccine and their subsequent revaccination outcomes. METHODS: We examined notifications of cases who had received adrenaline following a COVID-19 vaccine in New South Wales, Australia. The cases were classified into Brighton Collaboration Case Definition (BCCD) for anaphylaxis, their clinical presentation, management and subsequent revaccination outcomes were compared. RESULTS: From 22 February 2021 to 30 September 2021, there were 222 cases where adrenaline was administered. Of these, 32 (14 %) fulfilled Level 1 BCCD, 59 (27%) Level 2, 2 (1%) Level 3, 97 (44%) Level 4 and 32 (14 %) Level 5. The most commonly reported symptoms were sensation of throat closure (n = 116, 52%), difficulty breathing (n = 82, 37%) and nausea (n = 55, 25 %). Of the 176 (79%) individuals who proceeded to further vaccination, 89 (51%) received the same vaccine formulation and only 14 (8%) experienced another allergic adverse event with 9 (5%) receiving adrenaline. CONCLUSION: Less than one in five individuals who received adrenaline met Level 1 BCCD criteria for anaphylaxis. Many reactions that were treated with adrenaline had little to no diagnostic certainty of anaphylaxis and in such cases repeat vaccination had a high likelihood of being tolerated. Increased awareness and education on objective signs and symptoms of anaphylaxis is required to ensure appropriate use of adrenaline.


Asunto(s)
Anafilaxia , Vacunas contra la COVID-19 , COVID-19 , Humanos , Anafilaxia/inducido químicamente , Anafilaxia/epidemiología , Australia/epidemiología , Vacunas contra la COVID-19/efectos adversos , Epinefrina/uso terapéutico , Inmunización Secundaria , Estudios Retrospectivos , Vacunación/efectos adversos
11.
J Speech Lang Hear Res ; 66(9): 3328-3345, 2023 09 13.
Artículo en Inglés | MEDLINE | ID: mdl-37524109

RESUMEN

PURPOSE: The purpose of this study was to determine if self-stigma-related variables predicted communicative participation and mental health in adults who stutter. A progressive model of self-stigma was theorized and tested. METHOD: Adults who stutter (N = 344) completed a survey that included measures of communicative participation, global mental health, and a variety of self-stigma-related variables including perceived enacted stigma, stigma awareness, anticipated stigma, felt stigma, stereotype agreement, and stigma application, in addition to demographic and speech-related variables. Hierarchical regression was performed to test whether self-stigma-related variables progressively explained significant variance in both communicative participation and global mental health.c Results: After controlling for demographic and speech-related variables, stigma-related variables were found to be significant predictors of both communicative participation and global mental health among adults who stutter. Most self-stigma-related variables entered later in the model predicted additional unique variance in the outcome variables than the self-stigma-related variables entered in previous steps, thus supporting the trickle-down and progressive nature of the self-stigma model theorized. CONCLUSIONS: Accounting for self-stigma in the assessment and treatment of individuals who stutter may identify and ultimately reduce environmental and personal barriers to communicative functioning and well-being in people who stutter. The self-stigma terminology and model described in this study will help practitioners, researchers, and the public better understand the process of self-stigma and how it may be associated with adverse outcomes experienced by people who stutter.


Asunto(s)
Tartamudeo , Adulto , Humanos , Tartamudeo/psicología , Salud Mental , Estigma Social , Habla , Comunicación
13.
J Phys Chem B ; 127(16): 3737-3745, 2023 Apr 27.
Artículo en Inglés | MEDLINE | ID: mdl-37074024

RESUMEN

Interferometric scattering microscopy (iSCAT) is a label-free optical microscopy technique that enables imaging of individual nano-objects such as nanoparticles, viruses, and proteins. Essential to this technique is the suppression of background scattering and identification of signals from nano-objects. In the presence of substrates with high roughness, scattering heterogeneities in the background, when coupled with tiny stage movements, cause features in the background to be manifested in background-suppressed iSCAT images. Traditional computer vision algorithms detect these background features as particles, limiting the accuracy of object detection in iSCAT experiments. Here, we present a pathway to improve particle detection in such situations using supervised machine learning via a mask region-based convolutional neural network (mask R-CNN). Using a model iSCAT experiment of 19.2 nm gold nanoparticles adsorbing to a rough layer-by-layer polyelectrolyte film, we develop a method to generate labeled datasets using experimental background images and simulated particle signals and train the mask R-CNN using limited computational resources via transfer learning. We then compare the performance of the mask R-CNN trained with and without inclusion of experimental backgrounds in the dataset against that of a traditional computer vision object detection algorithm, Haar-like feature detection, by analyzing data from the model experiment. Results demonstrate that including representative backgrounds in training datasets improved the mask R-CNN in differentiating between background and particle signals and elevated performance by markedly reducing false positives. The methodology for creating a labeled dataset with representative experimental backgrounds and simulated signals facilitates the application of machine learning in iSCAT experiments with strong background scattering and thus provides a useful workflow for future researchers to improve their image processing capabilities.

14.
J Child Psychol Psychiatry ; 64(5): 779-786, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36504296

RESUMEN

BACKGROUND: The standard approach for classifying child/youth psychiatric disorder as present or absent in epidemiological studies is lay-administered structured, standardized diagnostic interviews (interviews) based on categorical taxonomies such as the DSM and ICD. Converting problem checklist scale scores (checklists) to binary classifications provides a simple, inexpensive alternative. METHODS: Using assessments obtained from 737 parents, we determine if child/youth behavioral, attentional, and emotional disorder classifications based on checklists are equivalent psychometrically to interview classifications. We test this hypothesis by (1) comparing their test-retest reliabilities based on kappa (κ), (2) estimating their observed agreement at times 1 and 2, and (3) in structural equation models, comparing their strength of association with clinical status and reported use of prescription medication to treat disorder. A confidence interval approach is used to determine if parameter differences lie within the smallest effect size of interest set at ±0.125. RESULTS: The test-retest reliabilities (κ) for interviews compared with checklists met criteria for statistical equivalence: behavioral, .67 and .70; attentional, .64 and .66; and emotional, .61 and .65. Observed agreement between the checklist and interviews on classifications of disorder at times 1 and 2 was, on average, κ = .61. On average, the ß coefficients estimating associations with clinical status were .59 (interviews) and .63 (checklists); and with prescription medication use, .69 (interviews) and .71 (checklists). Behavioral and attentional disorders met criteria for statistical equivalence. Emotional disorder did not, although the coefficients were stronger numerically for the checklist. CONCLUSIONS: Classifications of child/youth psychiatric disorder from parent-reported checklists and interviews are equivalent psychometrically. The practical advantages of checklists over interviews for classifying disorder (lower administration cost and respondent burden) are enhanced by their ability to measure disorder dimensionally. Checklists provide an option to interviews in epidemiological studies of common child/youth psychiatric disorders.


Asunto(s)
Lista de Verificación , Trastornos del Conocimiento , Niño , Humanos , Adolescente , Psicometría , Escalas de Valoración Psiquiátrica , Reproducibilidad de los Resultados , Estudios Epidemiológicos
15.
Lang Speech Hear Serv Sch ; 54(1): 82-95, 2023 01 17.
Artículo en Inglés | MEDLINE | ID: mdl-36417770

RESUMEN

PURPOSE: Speech-language pathologists are influential in shaping identity development for individuals who stutter, particularly as it relates to communication. This study investigated the experiences of lesbian, gay, and bisexual individuals who stutter to learn more about how multiple marginalized identities affect their psychosocial experiences. METHOD: Semi-structured interviews were conducted with seven individuals who stutter with lesbian, gay, and bisexual identities. Participants ranged in age from 22 to 60 years. Data were analyzed for themes and categories by using interpretive phenomenological analysis. RESULTS: Four primary themes were identified: (a) the importance of visibility and shared social identity connections for affirmation; (b) effects of oppressive social expectations on identity; (c) intersectionality of stuttering, gay, lesbian, and bisexual identities; and (d) effects of not being affirmed for identity. DISCUSSION: Results are discussed in the context of identity affirmation and intersectionality. Through an understanding of identity formation and psychosocial experiences of lesbian, gay, and bisexual individuals who stutter, speech-language pathologists can use identity-affirmative practices to support individuals who stutter and mitigate stigmatizing experiences. Implications focus on suggestions for the provision of identity-affirming speech-language pathology practices for students who stutter.


Asunto(s)
Minorías Sexuales y de Género , Tartamudeo , Femenino , Humanos , Adulto Joven , Adulto , Persona de Mediana Edad , Marco Interseccional , Tartamudeo/psicología
16.
Acta Paediatr ; 112(3): 385-390, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36420582

RESUMEN

AIM: The full blood count (FBC) is commonly measured as part of a partial septic work-up in asymptomatic infants at increased risk of early-onset neonatal sepsis (EOS). To determine the impact of FBC parameters on infants' subsequent management a retrospective cross-sectional study was performed. METHODS: Infants, born at ≥34 weeks gestation, asymptomatic at birth, undergoing a partial septic work-up and receiving prophylactic antibiotics due to increased risk of EOS in a single centre over a 2-year period, were included. The primary outcome measure was frequency of FBC result impacting on duration of antibiotic therapy. Secondary outcome measures included frequency of FBC parameters outside of the reference range and incidental diagnoses. RESULTS: In total, 16 726 live-born infants were delivered during the study period. A total of 802 (4.8%) were included. Thirteen infants (1.6%) received a prolonged course of antibiotics due to suspicion for EOS. Two of these infants had elevated white cell counts. All had normal neutrophil counts. In no case did the FBC result influence the decision to prolong the antibiotic course. CONCLUSION: In a cohort of 802 infants, asymptomatic at birth and at increased risk of EOS, the FBC result did not impact on the decision to prolong the course of antibiotics for suspicion of EOS.


Asunto(s)
Sepsis Neonatal , Sepsis , Recién Nacido , Humanos , Lactante , Estudios Transversales , Estudios Retrospectivos , Sepsis Neonatal/diagnóstico , Sepsis Neonatal/tratamiento farmacológico , Antibacterianos/uso terapéutico , Factores de Riesgo
17.
Eur J Pediatr ; 181(10): 3725-3732, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35945291

RESUMEN

Inborn errors of metabolism are an individually rare but collectively significant cause of mortality and morbidity in the neonatal period. They are identified by either newborn screening programmes or clinician-initiated targeted biochemical screening. This study examines the relative contribution of these two methods to the identification of inborn errors of metabolism and describes the incidence of these conditions in a large, tertiary, neonatal unit. We also examined which factors could impact the reliability of metabolic testing in this cohort. This is a retrospective, single-site study examining infants in whom a targeted metabolic investigation was performed from January 2018 to December 2020 inclusive. Data was also provided by the national newborn screening laboratory regarding newborn screening diagnoses. Two hundred and four newborns received a clinician-initiated metabolic screen during the time period examined with 5 newborns being diagnosed with an inborn error of metabolism (IEM) (2.4%). Of the 25,240 infants born in the hospital during the period examined, a further 11 newborns had an inborn error of metabolism diagnosed on newborn screening. This produced an incidence in our unit over the time described of 6.34 per 10,000 births. This number reflects a minimum estimate, given that the conditions diagnosed refer to early-onset disorders and distinctive categories of IEM only. Efficiency of the clinician-initiated metabolic screening process was also examined. The only statistically significant variable in requiring repeat metabolic screening was early day of life (z-score = - 2.58, p = 0.0098). A total of 28.4% was missing one of three key metabolic investigation parameters of blood glucose, ammonia or lactate concentration with ammonia the most common investigation missing. While hypoglycemia was the most common clinical rationale for a clinician-initiated metabolic test, it was a poor predictor of inborn error of metabolism with no newborns of 25 screened were diagnosed with a metabolic disorder. CONCLUSION: Clinician-targeted metabolic screening had a high diagnostic yield given the relatively low prevalence of inborn errors of metabolism in the general population. Thoughts should be given to the rationale behind each targeted metabolic test and what specific metabolic disease or category of inborn error of metabolism they are concerned along with commencing targeted testing. WHAT IS KNOWN: • Inborn errors of metabolism are a rare but potentially treatable cause of newborn mortality and morbidity. • A previous study conducted in a tertiary unit in an area with limited newborn screening demonstrated a diagnostic yield of 5.4%. WHAT IS NEW: • Clinician-initiated targeted metabolic screening has a good diagnostic performance even with a more expanded newborn screening programme. • Further optimisation could be achieved by examining the best timing and also the rationale of metabolic testing in the newborn period.


Asunto(s)
Enfermedades Metabólicas , Errores Innatos del Metabolismo , Amoníaco , Glucemia , Humanos , Lactante , Recién Nacido , Lactatos , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/epidemiología , Tamizaje Neonatal/métodos , Reproducibilidad de los Resultados , Estudios Retrospectivos
18.
J Fluency Disord ; 73: 105917, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35753277

RESUMEN

PURPOSE: This study aims to develop a short Japanese version of the Self-Stigma of Stuttering Scale (4S), which assesses the self-stigma of adults who stutter (AWS) in a self-completed form, and evaluate its psychometric properties and reliability and validity. METHODS: After translating the original 4S scale into Japanese (4S-J) through a forward-backward translation process, it was administered to 123 Japanese adults who stutter. A short version of the 4S-J was developed through factor analysis and eliminating items with low loadings to original factors. Reliability was verified by calculating internal consistency and test-retest reliability. Participants also completed the Japanese-translated version of the Rosenberg Self Esteem Scale, General Self-Efficacy Scale, and Subjective Happiness Scale to verify construct validity. As a secondary analysis, our results regarding psychological properties of the short version of the 4S were then compared to those of studies from other countries. RESULTS: Sixteen items were selected for the short version of the scale (4S-J-16), and confirmatory factor analysis verified the original structure of the 4S. We obtained good internal consistency and test-retest reliability. Regarding construct validity, our results showed similar correlation with the other selected scales. The value of all scores on the stigma scale in the Japanese cohort was significantly higher than that in the foreign cohort. CONCLUSIONS: Overall, the 4S-J-16 has good internal consistency, test-retest reliability, and construct validity with a three-factor structure of self-stigma in Japanese AWS. The findings suggest that Japanese cultural background increases the stigma scores, thereby enabling us to briefly assess the psychosocial issues of AWS.


Asunto(s)
Tartamudeo , Adulto , Humanos , Japón , Psicometría/métodos , Reproducibilidad de los Resultados , Estigma Social , Tartamudeo/diagnóstico , Tartamudeo/psicología , Encuestas y Cuestionarios
19.
Biol Lett ; 18(4): 20210596, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35414224

RESUMEN

Biodiversity assessments are critical for setting conservation priorities, understanding ecosystem function and establishing a baseline to monitor change. Surveys of marine biodiversity that rely almost entirely on sampling adult organisms underestimate diversity because they tend to be limited to habitat types and individuals that can be easily surveyed. Many marine animals have planktonic larvae that can be sampled from the water column at shallow depths. This life stage often is overlooked in surveys but can be used to relatively rapidly document diversity, especially for the many species that are rare or live cryptically as adults. Using DNA barcode data from samples of nemertean worms collected in three biogeographical regions-Northeastern Pacific, the Caribbean Sea and Eastern Tropical Pacific-we found that most species were collected as either benthic adults or planktonic larvae but seldom in both stages. Randomization tests show that this deficit of operational taxonomic units collected as both adults and larvae is extremely unlikely if larvae and adults were drawn from the same pool of species. This effect persists even in well-studied faunas. These results suggest that sampling planktonic larvae offers access to a different subset of species and thus significantly increases estimates of biodiversity compared to sampling adults alone. Spanish abstract is available in the electronic supplementary material.


Asunto(s)
Biodiversidad , Ecosistema , Animales , Región del Caribe , ADN , Código de Barras del ADN Taxonómico , Larva/genética
20.
Am J Speech Lang Pathol ; 31(2): 757-769, 2022 03 10.
Artículo en Inglés | MEDLINE | ID: mdl-35007427

RESUMEN

PURPOSE: This study examined the role of uncertainty and perceived control in predicting the communicative participation and mental health of adults who stutter. METHOD: Two hundred sixty-nine adults who stutter completed measures of uncertainty about stuttering, perceived control of stuttering, communicative participation, and global mental health. In addition, participants self-reported on a variety of demographic and speech-related measures. Correlational analyses and hierarchical regression were performed to determine associations between variables of interest. RESULTS: Uncertainty accounted for significant variance in communicative participation and global mental health after statistically controlling for the effects of demographic and speech-related variables. Perceived control accounted for significant variance in communicative participation over and above what was accounted for by demographic variables, speech-related variables, and uncertainty. CONCLUSIONS: The findings suggest that uncertainty about stuttering and perceived control of stuttering should be accounted for during assessment and intervention with adults who stutter. Interventions that specifically target uncertainty and perceived control may be useful in improving therapeutic outcomes for individuals who stutter.


Asunto(s)
Tartamudeo , Adulto , Comunicación , Humanos , Salud Mental , Habla , Tartamudeo/diagnóstico , Tartamudeo/psicología , Tartamudeo/terapia , Incertidumbre
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