RESUMEN
INTRODUCTION: Globally, back pain is the leading cause of years of disability. In the United Kingdom, over 20 million people live with musculoskeletal (MSK) pain, with low back pain being one of the most common causes. National strategies promote self-management and the use of digital technologies to empower populations. AIMS: To evaluate the uptake and impact of providing the SelfSTart approach (STarT Back and SelfBACK App) when delivered by a First Contact Physiotherapist (FCP) to people presenting with low back pain in primary care. METHODS: Patients presenting with a new episode of low back pain underwent routine assessment and completion of a STarT Back questionnaire. Patients with low/medium scores were offered the SelfBACK App. A control population was provided by the MIDAS-GP study. Patient Experience, outcome measures, healthcare utilisation and retention were captured through the app and clinical systems (EMIS). Interviews with five FCPs explored the experiences of using the SelfSTart approach. RESULTS: SelfSTarT was taken up by almost half (48%) of those to whom it was offered. Compared to MIDAS-GP, users were more likely to be younger, male, in work, and with higher health literacy. SelfSTarT users reported significant improved experiences relating to receiving an agreed care plan and receiving sufficient information. There were no significant differences in treatments offered. FCPs were positive about the app and felt it had value but wanted feedback on patient progress. They recognised that a digital solution would not be suitable for all. CONCLUSION: This approach offers an opportunity to empower and support self-management, using robustly evaluated digital technology.
Asunto(s)
Dolor de la Región Lumbar , Dolor Musculoesquelético , Fisioterapeutas , Humanos , Masculino , Dolor de la Región Lumbar/terapia , Dolor de Espalda/terapia , Encuestas y Cuestionarios , Evaluación de Resultado en la Atención de SaludRESUMEN
Merkel cell carcinoma (MCC) is a rare cutaneous neuroendocrine tumor with a poor five-year survival rate. Yearly cases have risen nearly 350% since the early 1980s, and these are predicted to increase as the overall US population ages. MCC of the eyelid is uncommon and can be misdiagnosed as other benign inflammatory and neoplastic eyelid disorders. Although MCC of the head and neck is often more aggressive than it is at other sites, eyelid MCC shows a lower disease-specific mortality rate. A biopsy is essential for accurate diagnosis, including an immunohistochemical panel of CK20 and TTF-1, although other markers may be necessary. Staging can be assessed clinically through physical examination findings and imaging and/or pathologically with sentinel lymph node biopsy or fine-needle aspiration. Pathologic staging more accurately predicts the prognosis. Eyelid MCC treatments include Mohs micrographic surgery to allow for complete clearance and adequate reconstruction of lost tissue, followed by adjuvant radiotherapy. In advanced disease, immunotherapies are preferred over traditional chemotherapy and are a subject of ongoing research.
Asunto(s)
Carcinoma de Células de Merkel , Neoplasias de los Párpados , Neoplasias Cutáneas , Carcinoma de Células de Merkel/terapia , Carcinoma de Células de Merkel/diagnóstico , Carcinoma de Células de Merkel/patología , Humanos , Neoplasias de los Párpados/terapia , Neoplasias de los Párpados/diagnóstico , Neoplasias de los Párpados/patología , Neoplasias Cutáneas/terapia , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Estadificación de Neoplasias , Cirugía de Mohs , Pronóstico , Radioterapia Adyuvante , InmunoterapiaRESUMEN
Adnexal neoplasms of the eyelid encompass a wide variety of benign and malignant tumors of sebaceous, follicular, and sweat gland origin. Due to the specialized structures of the eyelid, these neoplasms present differently when compared with those of other locations. Although most dermatologists and ophthalmologists are familiar with the commonly reported adnexal tumors of the eyelid, such as hidrocystoma, pilomatrixoma, and sebaceous carcinoma, many other adnexal neoplasms have been reported at this unique anatomic site. Accurate and timely identification of these neoplasms is essential, as alterations of eyelid anatomy and function can have a negative impact on eye health, vision, and quality of life. We review the clinical and histopathologic features of common and rare eyelid adnexal neoplasms and discuss proposed treatment options.
Asunto(s)
Neoplasias de los Párpados , Neoplasias de las Glándulas Sebáceas , Humanos , Neoplasias de los Párpados/patología , Neoplasias de los Párpados/diagnóstico , Neoplasias de las Glándulas Sebáceas/patología , Neoplasias de las Glándulas Sebáceas/diagnóstico , Neoplasias de Anexos y Apéndices de Piel/patología , Neoplasias de Anexos y Apéndices de Piel/diagnóstico , Neoplasias de las Glándulas Sudoríparas/patología , Neoplasias de las Glándulas Sudoríparas/diagnóstico , Pilomatrixoma/patología , Pilomatrixoma/diagnóstico , Hidrocistoma/patología , Hidrocistoma/diagnósticoRESUMEN
Most research on pharmaceutical presence in the environment to date has focused on smaller scale assessments of freshwater and riverine systems, relying mainly on assays of water samples, while studies in marine ecosystems and of exposed biota are sparse. This study investigated the pharmaceutical burden in bonefish (Albula vulpes), an important recreational and artisanal fishery, to quantify pharmaceutical exposure throughout the Caribbean Basin. We sampled 74 bonefish from five regions, and analyzed them for 102 pharmaceuticals. We assessed the influence of sampling region on the number of pharmaceuticals, pharmaceutical assemblage, and risk of pharmacological effects. To evaluate the risk of pharmacological effects at the scale of the individual, we proposed a metric based on the human therapeutic plasma concentration (HTPC), comparing measured concentrations to a threshold of 1/3 the HTPC for each pharmaceutical. Every bonefish had at least one pharmaceutical, with an average of 4.9 and a maximum of 16 pharmaceuticals in one individual. At least one pharmaceutical was detected in exceedance of the 1/3 HTPC threshold in 39% of bonefish, with an average of 0.6 and a maximum of 11 pharmaceuticals exceeding in a Key West individual. The number of pharmaceuticals (49 detected in total) differed across regions, but the risk of pharmacological effects did not (23 pharmaceuticals exceeded the 1/3 HTPC threshold). The most common pharmaceuticals were venlafaxine (43 bonefish), atenolol (36), naloxone (27), codeine (27), and trimethoprim (24). Findings suggest that pharmaceutical detections and concentration may be independent, emphasizing the need to monitor risk to biota regardless of exposure diversity, and to focus on risk quantified at the individual level. This study supports the widespread presence of pharmaceuticals in marine systems and shows the utility of applying the HTPC to assess the potential for pharmacological effects, and thus quantify impact of exposure at large spatial scales.
Asunto(s)
Ecosistema , Contaminantes Químicos del Agua , Humanos , Animales , Peces , Región del Caribe , Biota , Preparaciones Farmacéuticas , Contaminantes Químicos del Agua/toxicidad , Monitoreo del AmbienteRESUMEN
BACKGROUND: Evidence-based interventions to protect against cognitive decline among older adults at risk for Alzheimer's disease and related dementias (ADRD) are urgently needed. Rehabilitation approaches to support memory and behavioral/lifestyle interventions are recognized as promising strategies for preserving or improving cognitive health, although few previous interventions have combined both approaches. This paper describes the protocol of the Brain Boosters intervention, which synergistically combines training in compensatory and healthy lifestyle behaviors and supports implementation and tracking of new behaviors with a digital application. METHODS: The study utilizes a single-site, single-blinded, randomized controlled design to compare a structured lifestyle and compensatory aid intervention to an education-only self-guided intervention. We plan to enroll 225 community-dwelling adults (25% from underrepresented groups) aged 65 + who endorse subjective cognitive decline (SCD) and low baseline levels of healthy lifestyle behaviors. Both interventions will be administered in group format, consisting of 15 two-hour classes that occur weekly for ten weeks and taper to bi-monthly and monthly, for an intervention duration of 6 months. Participants in both interventions will receive education about a variety of memory support strategies and healthy lifestyle behaviors, focusing on physical and cognitive activity and stress management. The structured intervention will also receive support in adopting new behaviors and tracking set goals aided by the Electronic Memory and Management Aid (EMMA) digital application. Primary outcomes include global cognition (composite of memory, attention, and executive function tests) and everyday function (Everyday Cognition Questionnaire). Data will be collected at baseline and outcome visits, at approximately 6, 12, and 18 months. Qualitative interviews, self-report surveys (e.g., indicators of self-determination, health literacy) and EMMA data metrics will also be used to identify what components of the intervention are most effective and for whom they work. DISCUSSION: Successful project completion will provide valuable information about how individuals with SCD respond to a compensation and preventative lifestyle intervention assisted by a digital application, including an understanding of factors that may impact outcomes, treatment uptake, and adherence. The work will also inform development, scaling, and personalization of future interventions that can delay disability in individuals at risk for ADRD. TRIAL REGISTRATION: ClinicalTrials.gov. (NCT05027789, posted 8/30/2021).
Asunto(s)
Enfermedad de Alzheimer , Disfunción Cognitiva , Envejecimiento Saludable , Anciano , Humanos , Enfermedad de Alzheimer/epidemiología , Enfermedad de Alzheimer/prevención & control , Encéfalo , Cognición , Disfunción Cognitiva/terapia , Estilo de Vida , Método Simple CiegoRESUMEN
Genetic disorders are significant contributors to infant hospitalization and mortality globally. The early diagnosis of these conditions in infants remains a considerable challenge. Clinical exome sequencing (CES) has shown to be a successful tool for the early diagnosis of genetic conditions, however, its utility in African infant populations has not been investigated. The impact of the under-representation of African genomic data, the cost of testing, and genomic workforce shortages, need to be investigated and evidence-based implementation strategies accounting for locally available genetics expertise and diagnostic infrastructure need to be developed. We evaluated the diagnostic utility of singleton CES in a cohort of 32 ill, South African infants from two State hospitals in Johannesburg, South Africa. We analysed the data using a series of filtering approaches, including a curated virtual gene panel consisting of genes implicated in neonatal-and early childhood-onset conditions and genes with known founder and common variants in African populations. We reported a diagnostic yield of 22% and identified seven pathogenic variants in the NPHS1, COL2A1, OCRL, SHOC2, TPRV4, MTM1 and STAC3 genes. This study demonstrates the utility value of CES in the South African State healthcare setting, providing a diagnosis to patients who would otherwise not receive one and allowing for directed management. We anticipate an increase in the diagnostic yield of our workflow with further refinement of the study inclusion criteria. This study highlights important considerations for the implementation of genomic medicine in under-resourced settings and in under-represented African populations where variant interpretation remains a challenge.
RESUMEN
INTRODUCTION: Individuals with intellectual disability (ID) are at higher risk of experiencing difficulties with anxiety than the general population. However, there are major barriers for individuals to receive appropriate services. There is a growing understanding of the importance of developing appropriate psychological interventions for this group. The objective of the current review was to systematically evaluate the findings of studies investigating the effectiveness of cognitive behavioural therapy (CBT) for individuals with ID and anxiety. Another aim was to explore which adaptions to CBT and treatment components were currently being utilised within the field. METHOD: The electronic databases of CINAHL, EMBASE, Medline, PsycINFO, Psychology and Behavioural Sciences Collection and Scopus were searched to identify relevant studies. The methodological quality of these studies was assessed using established quality assessment tools by the National Institutes of Health for pre and post studies and case series. RESULTS: Nine studies were included in this systematic review, all of which reported improvements in anxiety severity for some participants (25%-100%; N = 60) following CBT. Only three studies reported moderate effect sizes for CBT interventions on anxiety for individuals with ID. DISCUSSION AND CONCLUSIONS: There is emerging literature supporting the effectiveness of CBT for individuals with mild ID. Findings highlight that CBT for individuals with anxiety and mild ID, including cognitive components, may be feasible and tolerable. While the field is gradually receiving more attention, there are significant methodological flaws present, which limit the conclusions that can be drawn regarding the effectiveness of CBT for individuals with ID. However, there is emerging evidence for techniques such as cognitive restructuring and thought replacement and modifications such as visual aids, modelling and smaller groups based on this review. Future research is warranted to investigate whether individuals with more severe ID can benefit from CBT, as well as further exploring what are the necessary components and modifications.
Asunto(s)
Terapia Cognitivo-Conductual , Discapacidad Intelectual , Humanos , Discapacidad Intelectual/terapia , Discapacidad Intelectual/psicología , Trastornos de Ansiedad/terapia , Ansiedad/psicología , Terapia Cognitivo-Conductual/métodosRESUMEN
Studies of long-term trends in phenology often rely on climatic averages or accumulated heat, overlooking climate variability. Here we test the hypothesis that unusual weather conditions are critical in driving adult insect phenology. First, we generate phenological estimates for Lepidoptera (moths and butterflies) across the Eastern USA, and over a 70 year period, using natural history collections data. Next, we assemble a set of predictors, including the number of unusually warm and cold days prior to, and during, the adult flight period. We then use phylogenetically informed linear mixed effects models to evaluate effects of unusual weather events, climate context, species traits, and their interactions on flight onset, offset and duration. We find increasing numbers of both warm and cold days were strong effects, dramatically increasing flight duration. This strong effect on duration is likely driven by differential onset and termination dynamics. For flight onset, impact of unusual climate conditions is dependent on climatic context, but for flight cessation, more unusually cold days always lead to later termination particularly for multivoltine species. These results show that understanding phenological responses under global change must account for unusual weather events, especially given they are predicted to increase in frequency and severity.
Asunto(s)
Mariposas Diurnas , Mariposas Nocturnas , Animales , Estaciones del Año , Tiempo (Meteorología) , Mariposas Nocturnas/fisiología , FríoRESUMEN
The adaptation of wildlife species to urban environments can drive changes in the ecology of ectoparasites and vector-borne disease. To better understand ectoparasite dynamics in an urban environment, we investigated the ectoparasite communities of 183 sylvatic and urban opossums and raccoons captured across four seasons at a rural research station and within the city of Gainesville, FL, and of 115 community cats from the Gainesville, FL area. Amblyomma americanum (L.) (Acari: Ixodidae), Dermacentor variabilis (Say), and Ixodes texanus Banks were collected from raccoons, A. americanum, D. variabilis, and Ixodes scapularis Say from opossums, and A. americanum from cats. Few ticks were collected from urban animals, although species richness of ectoparasites was similar between urban and sylvatic habitats. Ctenocephalides felis (Bouché) (Siphonaptera: Pulicidae) was collected from all sampled host species, but was particularly abundant on opossums. Additionally, Orchopeas howardi (Baker) (Siphonaptera: Ceratophyllidae) was collected from raccoons, and O. howardi and Xenopsylla cheopis (Rothschild) (Siphonaptera: Pulicidae) from opossums. Only raccoons were infested with raccoon lice, and only cats were infested with cat lice. Primarily opossums were infested with mites. Ectoparasite community composition varied by habitat, host species, and season; seasonal variation in ectoparasite communities differed between the sylvatic and urban habitats. While urban mesomammals did not appear to play an important role in supporting tick populations in an urban habitat, urban opossums appear to serve as an alternate host for large numbers of cat fleas, which may be an important consideration for treatment and control efforts against ectoparasites of companion animals.
Asunto(s)
Didelphis , Ixodes , Siphonaptera , Animales , Florida/epidemiología , Mapaches/parasitologíaRESUMEN
In rheumatoid arthritis, the emergence of anti-citrullinated autoimmunity is associated with HLA-antigen-T cell receptor complexes. The precise mechanisms underpinning this breach of tolerance are not well understood. Porphyromonas gingivalis expresses an enzyme capable of non-endogenous C-terminal citrullination with potential to generate citrullinated autoantigens. Here we document how C-terminal citrullination of ovalbumin peptide323-339 alters the interaction between antigen-presenting cells and OTII T cells to induce functional changes in responding T cells. These data reveal that C-terminal citrullination is sufficient to breach T cell peripheral tolerance in vivo and reveal the potential of C-terminal citrullination to lower the threshold for T cell activation. Finally, we demonstrate a role for the IL-2/STAT5/CD25 signalling axis in breach of tolerance. Together, our data identify a tractable mechanism and targetable pathways underpinning breach of tolerance in rheumatoid arthritis and provide new conceptual insight into the origins of anti-citrullinated autoimmunity.
Asunto(s)
Artritis Reumatoide , Citrulina , Humanos , Tolerancia Inmunológica , Péptidos , Comunicación CelularRESUMEN
Herpes simplex virus (HSV) can cause severe disseminated infections in immunocompromised patients. Gastrointestinal tract involvement seldom includes the colon. We present a rare case of disseminated cutaneous HSV infection with concomitant colonic involvement in an immunosuppressed patient. The patient's clinical presentation and computerized tomography (CT) findings were concerning for colitis. She failed to improve on antibiotic therapy and subsequently underwent flexible sigmoidoscopy. Gross findings and histopathology were consistent with herpes simplex virus colitis. It is essential to recognize this pathology in immunocompromised patients to evaluate the need to hold immunosuppressive therapy and ensure successful treatment to prevent fatal outcomes.
RESUMEN
BACKGROUND: Metachromatic leukodystrophy (MLD), a relentlessly progressive and ultimately fatal condition, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). Historically management has been palliative or supportive care. Hematopoietic stem cell transplantation is poorly effective in early-onset MLD and benefit in late-onset MLD remains controversial. Hematopoietic stem cell gene therapy, Libmeldy (atidarsagene autotemcel), was recently approved by the European Medicines Agency for early-onset MLD. Treatment benefit is mainly observed at an early disease stage, indicating the need for early diagnosis and intervention. This study contributes insights into the caregiver language used to describe initial MLD symptomatology, and thereby aims to improve communication between clinicians and families impacted by this condition and promote a faster path to diagnosis. RESULTS: Data was collected through a moderator-assisted online 60-min survey and 30-min semi-structured follow-up telephone interview with 31 MLD caregivers in the United States (n = 10), France (n = 10), the United Kingdom (n = 5), and Germany (n = 6). All respondents were primary caregivers of a person with late infantile (n = 20), juvenile (n = 11) or borderline late infantile/juvenile (n = 1) MLD (one caregiver reported for 2 children leading to a sample of 32 individuals with MLD). Caregivers were asked questions related to their child's initial signs and symptoms, time to diagnosis and interactions with healthcare providers. These results highlight the caregiver language used to describe the most common initial symptoms of MLD and provide added context to help elevate the index of suspicion of disease. Distinctions between caregiver descriptions of late infantile and juvenile MLD in symptom onset and disease course were also identified. CONCLUSIONS: This study captures the caregiver description of the physical, behavioral, and cognitive signs of MLD prior to diagnosis. The understanding of the caregiver language at symptom onset sheds light on a critical window of often missed opportunity for earlier diagnosis and therapeutic intervention in MLD.
Asunto(s)
Leucodistrofia Metacromática , Enfermedades por Almacenamiento Lisosomal , Cuidadores , Cerebrósido Sulfatasa/genética , Niño , Progresión de la Enfermedad , Humanos , Leucodistrofia Metacromática/diagnóstico , Leucodistrofia Metacromática/terapiaRESUMEN
BACKGROUND: People with language disorders (including developmental language disorder-DLD) often struggle to learn new words and, for young adults, this could affect their success in future work. Therefore, it is crucial to support their learning of career-specific vocabulary. However, little published evidence exists regarding the effectiveness of speech and language intervention for older adolescents and young adults with (developmental) language disorder (D)LD within a post-16 provision. AIMS: To investigate whether for students with (D)LD in a post-16 environment, the addition of direct individual intervention from a speech and language therapist (SLT) teaching course-specific vocabulary leads to more progress than just in-course teaching on bespoke vocabulary measures. METHODS & PROCEDURES: A total of 28 college-aged students (11 female and 17 male) with (D)LD (aged 16.0-19.9) participated in a within-participant study comparing progress with explicit vocabulary intervention plus in-course teaching versus in-course teaching alone. The participants were assessed at four time points (3 months pre-intervention, immediately pre- and post-intervention, 3.5 months after intervention) using bespoke vocabulary assessments with an equal number of nouns, verbs and adjectives. All participants received one-to-one vocabulary intervention from their usual SLT for 30 min per week for 9 weeks. The intervention had four main components: (1) to identify intervention focus, (2) to recap previously taught terms (using an online flashcard program), (3) to explicitly teach new words using word maps to help with: creating definition and pictorial representation, identification of word class and investigation of phonological and morphological properties, and (4) to add new words, with their definition and pictorial representation to online flashcard program. OUTCOMES & RESULTS: The results showed a stable baseline, then during the intervention term significant progress on words targeted only in lessons and significantly greater progress on words targeted both in lessons and SLT sessions. Progress was maintained for 14 weeks. Individuals with initially lower scores showed smaller intervention effects. In general, performance was higher on verbs and on the definition recognition task and lower on the production tasks, but all tasks improved with intervention. CONCLUSIONS & IMPLICATIONS: Direct one-to-one vocabulary intervention with an SLT can lead to significant gains in knowledge of course-specific terminology for college-aged students with (D)LD. The effectiveness of speech and language therapy services for this age group in a wider range of areas of language and social communication should also be investigated. WHAT THIS PAPER ADDS: What is already known on this subject Very few services exist for young adults with DLD, despite their persisting language difficulties and the detrimental impact of these on their academic attainment and employment prospects. Most careers involve specific vocabulary which is crucial to executing a role successfully and these need to be learned by those looking to move into these careers. However, children, adolescents and adults with DLD struggle to learn new words and may need help in this area. What this study adds to existing knowledge The young adults with (D)LD received 9 weeks of intervention targeting individualized course-specific vocabulary (nouns, verbs and adjectives), using word maps to focus on word forms, definitions, morphologically related words and syntactic information such as word class and how to use the word in a sentence. An online learning tool provided regular spaced retrieval practice of previously taught words and their definitions. The participants showed significant progress with learning course-specific vocabulary from attending lessons. However, they made significantly greater progress on those words which were also targeted in individual SLT sessions, regardless of word class. Progress was maintained over 14 weeks. What are the potential or actual clinical implications of this work? Direct one-to-one vocabulary intervention with an SLT can lead to significantly greater gains in the acquisition of targeted course-specific terminology for young adults with (D)LD than the vocabulary teaching available in lessons. Individual intervention delivered by SLTs should therefore be offered to this age group of students with (D)LD to maximize their ability to access the academic curriculum and their future careers. Indeed, the broader role of SLTs in helping these young adults to access the world of work and independent living should be further investigated and supported.
Asunto(s)
Trastornos del Desarrollo del Lenguaje , Vocabulario , Niño , Adolescente , Humanos , Masculino , Femenino , Adulto Joven , Terapia del Lenguaje/métodos , Trastornos del Desarrollo del Lenguaje/terapia , Resultado del Tratamiento , EstudiantesRESUMEN
BACKGROUND: Parent-infant interactions provide the foundation for the development of infant socioemotional wellbeing. Preterm birth can have a substantial, and often detrimental, impact on the quality of early parent-infant interactions. Sensory processing difficulties, common in preterm infants, are further associated with poorer interaction quality. There is a paucity of research, however, examining the links between the quality of parent-infant interaction, preterm birth, and sensory processing difficulties. This study aimed to characterise the quality of interactions of parent-infant dyads involving preterm infants who may display sensory processing differences and examine the associations between parent-infant interaction quality, preterm status and infant sensory processing. METHOD: 67 parent-infant dyads (12-months infant age, 22 preterm, 45 full-term) participated in a recorded, semi-structured 15-minute play interaction. Parents also filled out questionnaires on demographics, and infant sensory processing (Infant and Toddler Sensory Profile-2; ITSP-2). Interaction quality was rated using the Parenting Interactions with Children: Checklist of Observations Linked to Outcomes (PICCOLO). RESULTS: Preterm and full-term infants differed in sensory processing and parent-infant interaction. Infant prematurity was associated with the sensory domains of; visual (r = - 0.37, p = .005), touch (r = - 0.39, p = .002), and movement (rs = - .32, p = .01), as well as the interaction domains of; responsivity (rs;= - .43, p = .001), teaching (rs = - .31, p = .02), and interaction total score (r = - 0.34, p = .01). Interaction quality was related to sensory registration (rs = - .38, p = .008), auditory (rs = - .34, p = .02), seeking (rs = .29, p = .05) and sensory behavioural scores (rs = - .52, p < .001). Overall, interaction quality was best predicted by infant prematurity and auditory scores, R2 = .15, F(1, 47) = 4.01, p = .02. DISCUSSION: Preterm infants differed from their full-term peers in both their sensory processing and in their dyadic interactions with parents. Preterm status was associated with less responsivity and teaching and was found to predict overall interaction quality. Poorer infant sensory processing was associated with less parental teaching, affection and responsivity during interactions. Our results suggest that preterm birth is related to sensory processing difficulties, and that prematurity and sensory processing are differentially associated with aspects of interaction quality. These findings support the further examination of the interplay between preterm birth, sensory processing, and parent-infant interaction quality.
Asunto(s)
Enfermedades del Prematuro , Relaciones Madre-Hijo , Nacimiento Prematuro , Percepción del Tacto , Adulto , Femenino , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro/psicología , Responsabilidad Parental/psicología , Padres/psicología , Percepción , Adulto JovenRESUMEN
A 60-year-old man with metastatic renal cell carcinoma presented with a 6-month history of a pruritic, exquisitely painful genital eruption appearing 3 months after initiation of nivolumab. Examination demonstrated a poorly defined, lichenified scrotal plaque studded with erosions, yellow crust, and tense vesicles. There was no other lesion on the body or mucosae. Histopathology revealed a subepidermal blister with a mixed lymphocytic, neutrophilic, and eosinophilic infiltrate. Direct immunofluorescence of perilesional skin demonstrated subclinical blister and linear/fibrillary patchy IgG and IgA along the dermoepidermal junction. Bullous pemphigoid (BP) serologies revealed normal IgG BP230 antibodies and minimally elevated IgG BP180 antibodies. Indirect immunofluorescence revealed positive IgG at the basement membrane ("epidermal pattern") in human split skin and monkey esophagus substrates; no IgA antibodies were detected. The patient was diagnosed with nivolumab-induced localized genital BP (LGBP). BP is a reported adverse effect of immune checkpoint inhibitors including nivolumab; however, cases are typically generalized. LGBP is a rare BP variant typically presenting in children and females; there are few reports of LGBP in adult males. We report a novel case of nivolumab-induced LGBP with unique histopathologic and clinical challenges. LGBP should be considered in patients on immune checkpoint inhibitor therapy with bullous genital eruptions.
Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Penfigoide Ampolloso , Autoanticuerpos , Autoantígenos/uso terapéutico , Vesícula , Carcinoma de Células Renales/tratamiento farmacológico , Femenino , Genitales/patología , Humanos , Inmunoglobulina G/metabolismo , Masculino , Nivolumab/efectos adversosRESUMEN
The HIV/AIDS epidemic has driven the rise in cases of Kaposi sarcoma (KS) among children and adolescents living with HIV in countries with high Human gammaherpesvirus 8 (HHV-8) seroprevalence, such as Tanzania, where specialized oncology programs are sparse. Consequently, descriptions of successful treatment of KS in children and adolescents by general pediatricians are important. A retrospective analysis was performed of children and adolescents diagnosed with KS and treated with chemotherapy and combination antiretroviral therapy (cART) at the Baylor College of Medicine Children's Foundation Tanzania Center of Excellence - Mbeya between 2011 and 2017. Sixty-one patients were diagnosed with KS with a median age of 12.6 years (interquartile range (IQR) 9.4 - 15.5). Diagnosis was confirmed by histopathology in 36% (22/61). Among HIV positive patients (59/61), 78% (46/59) were on cART at KS diagnosis. Severe immunosuppression was present in 63% (35/56) of those with CD4 data and 44% (27/61) had SAM. Advanced-stage T1 disease was present in 64% (39/61), including 28% (17/61) with visceral/disseminated KS. Two-year estimated overall survival (OS) was 72% (95% Confidence Interval (CI): 58%-82%) and median follow up for survivors was 25.7 months (IQR 14.2-53.8). No patients were lost to follow up. Two-year OS was 63% (95% CI: 44%-77%) in patients with severe immune suppression and 60% (95% CI: 37%-76%) in patients with SAM. Among patients with visceral/disseminated KS, 53% (9/17) survived. This retrospective analysis demonstrated favorable outcomes in a complex cohort of children and adolescents with KS treated with chemotherapy by general pediatricians in Tanzania.
Asunto(s)
Sarcoma de Kaposi , Adolescente , Niño , Humanos , Estudios Retrospectivos , Sarcoma de Kaposi/tratamiento farmacológico , Sarcoma de Kaposi/epidemiología , Estudios Seroepidemiológicos , Tanzanía/epidemiología , Resultado del TratamientoRESUMEN
Chromosome 22q11.2 deletion syndrome (22q11DS) is characterised by a complex behavioural phenotype including anxiety, attention-deficit/hyperactivity disorder and psychosis. In the current study, we aimed at improving our understanding of the heterogeneity of behavioural characteristics in a group of 129 young people (aged 4-22) with a confirmed 22q11.2 microdeletion and 116 age and gender matched typically developing controls. Half the participants with 22q11DS had behaviour characterised by emotion dysregulation. A cluster analyses, of the participants with 22q11DS, revealed four groups characterised by intact emotion regulation; predominantly internalizing problems; both internalizing and externalizing problems; and predominantly externalizing difficulties. Importantly, it was found that young people with 22q11DS whose emotion dysregulation was characterised by externalizing problems had the poorest levels of functioning. As our understanding of 22q11DS improves, it is becoming increasingly clear that we need a better understanding of how individual differences and psychosocial factors contribute to, and interact with one another, to result in the observable individual differences in the 22q11DS behavioural phenotype.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Síndrome de DiGeorge , Regulación Emocional , Adolescente , Síndrome de DiGeorge/psicología , Humanos , IndividualidadRESUMEN
We review experimental and theoretical cross sections for electron scattering in nitric oxide (NO) and form a comprehensive set of plausible cross sections. To assess the accuracy and self-consistency of our set, we also review electron swarm transport coefficients in pure NO and admixtures of NO in Ar, for which we perform a multi-term Boltzmann equation analysis. We address observed discrepancies with these experimental measurements by training an artificial neural network to solve the inverse problem of unfolding the underlying electron-NO cross sections while using our initial cross section set as a base for this refinement. In this way, we refine a suitable quasielastic momentum transfer cross section, a dissociative electron attachment cross section, and a neutral dissociation cross section. We confirm that the resulting refined cross section set has an improved agreement with the experimental swarm data over that achieved with our initial set. We also use our refined database to calculate electron transport coefficients in NO, across a large range of density-reduced electric fields from 0.003 to 10 000 Td.