Wide Age Range Research Articles

Resting state functional brain connectivity in child and adolescent psychiatry: where are we now?

Approaching the 30th anniversary of the discovery of resting state functional magnetic resonance imaging (rsfMRI) functional connectivity, we reflect on the impact of this neuroimaging breakthrough on the field of child and adolescent psychiatry. The study of intrinsic functional brain architecture that rsfMRI affords across a wide range of ages and abilities has yielded numerous key insights. For example, we now know that many neurodevelopmental conditions are associated with more widespread circuit alterations across multiple large-scale brain networks than previously suspected. The emergence of population neuroscience and effective data-sharing initiatives have made large rsfMRI datasets publicly available, providing sufficient power to begin to identify brain-based subtypes within heterogeneous clinical conditions. Nevertheless, several methodological and theoretical challenges must still be addressed to fulfill the promises of personalized child and adolescent psychiatry. In particular, incomplete understanding of the physiological mechanisms driving developmental changes in intrinsic functional connectivity remains an obstacle to further progress. Future directions include cross-species and multimodal neuroimaging investigations to illuminate such mechanisms. Data collection and harmonization efforts that span multiple countries and diverse cohorts are urgently needed. Finally, incorporating naturalistic fMRI paradigms such as movie watching should be a priority for future research efforts.

Validity of Acoustic Measures Obtained Using Various Recording Methods Including Smartphones With and Without Headset Microphones.

The goal of this study was to assess various recording methods, including combinations of high- versus low-cost microphones, recording interfaces, and smartphones in terms of their ability to produce commonly used time- and spectral-based voice measurements. Twenty-four vowel samples representing a diversity of voice quality deviations and severities from a wide age range of male and female speakers were played via a head-and-thorax model and recorded using a high-cost, research standard GRAS 40AF (GRAS Sound & Vibration) microphone and amplification system. Additional recordings were made using various combinations of headset microphones (AKG C555 L [AKG Acoustics GmbH], Shure SM35-XLR [Shure Incorporated], AVID AE-36 [AVID Products, Inc.]) and audio interfaces (Focusrite Scarlett 2i2 [Focusrite Audio Engineering Ltd.] and PC, Focusrite and smartphone, smartphone via a TRRS adapter), as well as smartphones direct (Apple iPhone 13 Pro, Google Pixel 6) using their built-in microphones. The effect of background noise from four different room conditions was also evaluated. Vowel samples were analyzed for measures of fundamental frequency, perturbation, cepstral peak prominence, and spectral tilt (low vs. high spectral ratio). Results show that a wide variety of recording methods, including smartphones with and without a low-cost headset microphone, can effectively track the wide range of acoustic characteristics in a diverse set of typical and disordered voice samples. Although significant differences in acoustic measures of voice may be observed, the presence of extremely strong correlations (rs > .90) with the recording standard implies a strong linear relationship between the results of different methods that may be used to predict and adjust any observed differences in measurement results. Because handheld smartphone distance and positioning may be highly variable when used in actual clinical recording situations, smartphone + a low-cost headset microphone is recommended as an affordable recording method that controls mouth-to-microphone distance and positioning and allows both hands to be available for manipulation of the smartphone device.

Age- and sex-related changes in motor functions: a comprehensive assessment and component analysis.

Age-related motor impairments often cause caregiver dependency or even hospitalization. However, comprehensive investigations of the different motor abilities and the changes thereof across the adult lifespan remain sparse. We, therefore, extensively assessed essential basic and complex motor functions in 444 healthy adults covering a wide age range (range 21 to 88 years). Basic motor functions, here defined as simple isolated single or repetitive movements in one direction, were assessed by means of maximum grip strength (GS) and maximum finger-tapping frequency (FTF). Complex motor functions, comprising composite sequential movements involving both proximal and distal joints/muscle groups, were evaluated with the Action Research Arm Test (ARAT), the Jebsen-Taylor Hand Function Test (JTT), and the Purdue Pegboard Test. Men achieved higher scores than women concerning GS and FTF, whereas women stacked more pins per time than men during the Purdue Pegboard Test. There was no significant sex effect regarding JTT. We observed a significant but task-specific reduction of basic and complex motor performance scores across the adult lifespan. Linear regression analyses significantly predicted the participants' ages based on motor performance scores (R2 = 0.502). Of note, the ratio between the left- and right-hand performance remained stable across ages for all tests. Principal Component Analysis (PCA) revealed three motor components across all tests that represented dexterity, force, and speed. These components were consistently present in young (21-40 years), middle-aged (41-60 years), and older (61-88 years) adults, as well as in women and men. Based on the three motor components, K-means clustering analysis differentiated high- and low-performing participants across the adult life span. The rich motor data set of 444 healthy participants revealed age- and sex-dependent changes in essential basic and complex motor functions. Notably, the comprehensive assessment allowed for generating robust motor components across the adult lifespan. Our data may serve as a reference for future studies of healthy subjects and patients with motor deficits. Moreover, these findings emphasize the importance of comprehensively assessing different motor functions, including dexterity, force, and speed, to characterize human motor abilities and their age-related decline.

‘Who tells me when to stay active or to leave?’ age differences in and predictors of endorsement of prescriptive views of aging

Objectives Prescriptive views of aging (PVoA) are normative age-based expectations about age-appropriate behavior for older adults, e.g. that they should stay fit/active (active aging norms) but also behave altruistically toward younger generations (altruistic disengagement norms). We aimed at examining age differences in endorsement of active aging and altruistic disengagement and investigated predictors of endorsement. Method In the AGEISM Germany survey, a representative sample of N = 1,915 German participants was recruited, covering a wide age range (Mage =56.57 years, 16-96 years). Cross-sectional data was collected via computer-assisted telephone interviews. Results Active aging was more strongly endorsed than altruistic disengagement. Endorsement of both PVoA was higher in older age groups – even more pronounced for altruistic disengagement. Endorsement of both norms was positively associated with positive age stereotypes. Furthermore, active aging was predicted by age centrality whereas altruistic disengagement was predicted by negative age stereotypes. Age was still a robust predictor of PVoA even after entering additional predictors. Conclusion Although associated, prescriptive age norms (i.e. beliefs how older people should behave) and descriptive age norms (i.e. beliefs about how older adults and the aging process are like) represent partly independent belief systems, highlighting the importance to assess & further investigate predictors and consequences of PVoA, which become more prevalent with age.

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

BackgroundPhelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome.MethodsWe report on results from 98 individuals enrolled in a prospective, longitudinal study. We detailed seizure frequency, type, and age of onset, and we analyzed seizure occurrence with best estimate IQ, adaptive functioning, clinical features, and genotype. We conducted multiple linear regression analyses to assess the relationship between the presence of seizures and the Vineland Adaptive Behavior Scale, Second Edition (VABS-II) Adaptive Behavior Composite score and the best estimate full-scale IQ. We also performed Chi-square tests to explore associations between seizure prevalence and genetic groupings. Finally, we performed Chi-square tests and t-tests to explore the relationship between seizures and demographic features, features that manifest in infancy, and medical features.ResultsSeizures were present in 41% of the cohort, and age of onset was widely variable. The presence of seizures was associated with significantly lower adaptive and intellectual functioning. Genotype–phenotype analyses were discrepant, with no differences in seizure prevalence across genetic classes, but with more genes included in deletions of participants with 22q13 deletions and seizures compared to those with 22q13 deletions and no seizures. No clinical associations were found between the presence of seizures and sex, history of pre- or neonatal complications, early infancy, or medical features. In this cohort, generalized seizures were associated with developmental regression, which is a top concern for PMS caregivers.ConclusionsThese results begin to eludicate correlates of seizures in individuals with PMS and highlight the importance of early seizure management. Importantly, presence of seizures was associated with adaptive and cognitive functioning. A larger cohort might be able to identify additional associations with medical features. Genetic findings suggest an increased capability to realize genotype–phenotype relationships when deletion size is taken into account.

BCG activation of trained immunity is associated with induction of cross reactive COVID-19 antibodies in a BCG vaccinated population.

Pakistan is endemic to a diverse set of parasitic, mycobacterial and viral diseases. The recognition of BCG Trained Immunity (TI) led us to postulate that the continued presence of BCG-TI may play a protective role, previously reported for both infectious and noninfectious conditions. Most of the previous studies have addressed the issue of BCG-TI in the paediatric populations. This study addressed the key issue of maintenance of BCG-TI in a wider age range (adolescent and adults) to identify the strength and quality of the immune responses. To assess the BCG-induced recall responses in healthy individuals by cytokines secreted from the TI network and its potential role in providing cross-protection against COVID-19 and other viral infections. In this cross-sectional study, healthy young adults and adolescents (n = 20) were recruited from 16-40 years of age, with no prior history of TB treatment, autoimmune, or chronic inflammatory condition. BCG-induced cytokine responses were assessed using prototypic markers for cells of the TI network [macrophages [M1 (TNFα, IFNγ), M2 (IL10)], NK (IL2), Gamma delta (γδ) T (IL17, IL4)] and SARS CoV2 IgG antibodies against RBD using short-term (12 hrs.) cultures assay. Significant differences were observed in the magnitude of recall responses to BCG with macrophage cytokines showing the highest mean levels of TNFα (9148 pg/ml) followed by IL10 (488 pg/ml) and IFNγ (355 pg/ml). The ratio of unstimulated vs.BCG-stimulated cytokines was 132 fold higher for TNFα, 40 fold fo r IL10, and 27 fold for IFNγ. Furthermore, SARS-CoV-2 antibodies were also detected in unstimulated plasma which showed cross reactivity with BCG. The presence of cross reactive antibodies to SARS-CoV-2 and the relative ratio of pro- and anti-inflammatory cytokines secreted by activated TI cellular network may play a pivotal role in protection in the early stages of infection as observed during the COVID-19 pandemic in the younger age groups resulting in lower morbidity and mortality.

The histological spectrum and immunoprofile of head and neck NUT carcinoma: A multicentre series of 30 cases.

Head and neck nuclear protein of testis carcinoma (HN-NUT) is a rare form of carcinoma diagnosed by NUT immunohistochemistry positivity and/or NUTM1 translocation. Although the prototype of HN-NUT is a primitive undifferentiated round cell tumour (URC) with immunopositivity for squamous markers, it is our observation that it may assume variant histology or immunoprofile. We conducted a detailed clinicopathological review of a large retrospective cohort of 30 HN-NUT, aiming to expand its histological and immunohistochemical spectrum. The median age of patients with HN-NUT was 39 years (range = 17-86). It affected the sinonasal tract (43%), major salivary glands (20%), thyroid (13%), oral cavity (7%), larynx (7%), neck (7%) and nasopharynx (3%). Although most cases of HN-NUT (63%) contained a component of primitive URC tumour, 53% showed other histological features and 37% lacked a URC component altogether. Variant histological features included basaloid (33%), differentiated squamous/squamoid (37%), clear cell changes (13%), glandular differentiation (7%) and papillary architecture (10%), which could co-exist. While most HN-NUT were positive for keratins, p63 and p40, occasional cases (5-9%) were entirely negative. Immunopositivity for neuroendocrine markers and thyroid transcription factor-1 was observed in 33 and 36% of cases, respectively. The outcome of HN-NUT was dismal, with a 3-year disease specific survival of 38%. HN-NUT can affect individuals across a wide age range and arise from various head and neck sites. It exhibits a diverse spectrum of histological features and may be positive for neuroendocrine markers, potentially leading to underdiagnosis. A low threshold to perform NUT-specific tests is necessary to accurately diagnose HN-NUT.

Degree of multilingual engagement modulates resting state oscillatory activity across the lifespan

Multilingualism has been demonstrated to lead to a more favorable trajectory of neurocognitive aging, yet our understanding of its effect on neurocognition across the lifespan remains limited. We collected resting state EEG recordings from a sample of multilingual individuals across a wide age range. Additionally, we obtained data on participant multilingual language use patterns alongside other known lifestyle enrichment factors. Language experience was operationalized via a modified multilingual diversity (MLD) score. Generalized additive modeling was employed to examine the effects and interactions of age and MLD on resting state oscillatory power and coherence. The data suggest an independent modulatory effect of individualized multilingual engagement on age-related differences in whole brain resting state power across alpha and theta bands, and an interaction between age and MLD on resting state coherence in alpha, theta, and low beta. These results provide evidence of multilingual engagement as an independent correlational factor related to differences in resting state EEG power, consistent with the claim that multilingualism can serve as a protective factor in neurocognitive aging.

Abstract PO4-25-08: Secretory breast carcinoma (SBC) in an 8-year-old male: Report of an exceptionally rare case with review of clinicoradiologic and pathomolecular findings of SBC in the male pediatric population

Abstract Secretory breast carcinoma (SBC) is a rare and distinct disease, comprising approximately 0.01% of all breast carcinomas. This is a case of an 8-year-old boy who presented with a 1.5-year history of a non-tender, slowly enlarging left subareolar mass, not associated with nipple discharge. Serologic workup revealed minimally elevated prolactin with normal-range FSH, LH, estradiol and testosterone, as well as normal-range beta-hCG, LDH and AFP. Ultrasound showed a circumscribed solid hypoechoic lesion with internal arterial vascularity, favoured to represent a sebaceous cyst. Excisional biopsy was performed, and histologic examination revealed the classic intra- and extracellular secretory material typically seen in SBC. Immunohistochemical (IHC) stains for mammaglobin, S-100 and high molecular weight keratin (CK5) were positive. ER was positive, though not strong staining, and PR and HER2 were negative. A screen for NTRK fusions with pan-TRK IHC was positive. No skin, perineural or lymphovascular invasion was identified. RNA-based NGS demonstrated ETV6-NTRK3 fusion and confirmed the diagnosis of SBC. The patient underwent mastectomy and SLNB, which showed no residual tumor and no positive lymph nodes. A full metastatic work-up was not performed and the patient did not receive neoadjuvant therapy. First described as “juvenile breast carcinoma,” SBC has since been recognized to occur across a wide age range, with most cases occurring in adults. SBC in male pediatric patients is exceptionally rare, with fewer than 20 cases reported in the literature. In this demographic, SBC is usually detected clinically as a subareolar mass not associated with nipple discharge, and appears as a well-circumscribed mass on imaging, mimicking benign entities. SBC is usually detected at a low stage, treated surgically, and follows a clinically indolent course with excellent outcomes. Positive axillary nodes have been identified in a few male children, who subsequently underwent chemo- and/or radiotherapy, with no recorded recurrences in these cases. Distant metastases are an extremely uncommon feature of SBC and have not been reported in the pediatric male population; however, due to the rarity of this diagnosis, particularly in this demographic, robust long-term follow-up data are still lacking. The name “secretory” derives from the histologic appearance of the dense eosinophilic secretory material seen in tumor lumina and bubbly material in the cytoplasm of tumor cells. Similar to the cytologic characteristics of other translocation-driven neoplasms, SBC shows minimal pleomorphism. Mitoses are absent or rare. IHC stains are typically positive for S-100 and high molecular weight keratins and negative for ER, PR, and HER2. Despite the immunophenotypic similarities to triple negative/basal-like carcinomas (TNBC/BLC) the molecular relationship between SBC and TNBC/BLC is unclear. Though initially defined by its distinctive secretions on histology, SBC is now chiefly characterized by a balanced translocation, t(12;15)(p13;q25), resulting in oncogenic ETV6-NTRK3 fusion. Recent cases have demonstrated this using a variety of molecular techniques, including FISH, RT-PCR, and in our case, RNA-based NGS. This translocation also characterizes non-breast secretory carcinomas and has been identified in several other neoplasms, including pediatric mesenchymal tumours and adult acute myeloid leukemia. The rarity of SBC, particularly in the male pediatric population, underlines the necessity of this case report. Additionally, this case highlights the importance of considering SBC as a potential diagnosis in male children presenting with a breast mass, even in the presence of benign imaging characteristics. Table 1: Clinicoradiologic and pathomolecular characteristics of SBC in pediatric males AND, axillary node dissection; CT, chemotherapy; ER, estrogen receptor; FISH, fluorescence in situ hybridization; LE, local excision; MRM, modified radical mastectomy; nd, no data; NED, no evidence of disease; NGS, next-generation sequencing; NS, nodal sampling; PA, periareolar; PR, progesterone receptor; RA, retroareolar; RM, radical mastectomy; PCR, polymerase chain reaction; RT, radiotherapy; SA, subareolar; SLNB, sentinel lymph node biopsy; SM, simple mastectomy; WLE, wide local excision *Not reported as strong staining Table 2: Immunohistochemical phenotype of secretory breast carcinoma EMA, epithelial membrane antigen; ER, estrogen receptor; PR, progesterone receptor *Not reported as strong staining Table 3: Laboratory investigations AFP, alpha fetoprotein; FSH, follicle stimulating hormone; hCG, human chorionic gonadotropin; LDH, lactate dehydrogenase; LH, luteinizing hormone Citation Format: Rebecca Brassington, Svetlana Silverman, Ioana Bratu. Secretory breast carcinoma (SBC) in an 8-year-old male: Report of an exceptionally rare case with review of clinicoradiologic and pathomolecular findings of SBC in the male pediatric population [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO4-25-08.

Granulomatous lymphadenitis in Taiwan: Unraveling infantile peak and Bacillus Calmette-Guérin lymphadenitis

BackgroundGranulomatous lymphadenitis, a histopathological diagnosis, often indicates infections, such as those caused by mycobacterial and fungal agents. MethodsWe conducted an analysis of 1098 granulomatous lymphadenitis cases, examining age distribution, lymph node locations, and laterality. Molecular detection of Bacillus Calmette-Guérin (BCG) was performed on archived formalin-fixed paraffin-embedded tissue specimens. ResultsOur analysis revealed a bimodal age distribution, notably with a minor peak in infants. These infantile cases predominantly featured axillary involvement, frequently occurring on the left side. Positive rates of BCG identification decreased with age: <1 year, 71%; 1–2 year, 33%; 2–3 year, 13%; 3–4 year, 0%. Remarkably, only one of the 14 cases with molecularly confirmed BCG lymphadenitis had comments regarding BCG in the pathological report. Compared with patients born after 2016 (BCG at 5–8 months), those born before 2016 (BCG at birth) developed BCG lymphadenitis at a wider age range with right skewness (before 2016, 13 ± 11 months [range, 3–33 months] vs. after 2016, 10 ± 2 months [range, 8–13 months]). Four of the 14 BCG-positive cases had congenital heart disease. Seven patients received anti-tuberculosis drugs following surgical excision. No surgical complications were reported. ConclusionsBCG lymphadenitis constitutes a distinctive minor peak within the spectrum of granulomatous lymphadenitis in Taiwan. Pathologists should consider the possibility of BCG infection, especially in cases of infantile axillary, supraclavicular, neck lymphadenopathies on the left side. Moreover, BCG administration at 5–8 months may reduce delayed-onset BCG lymphadenitis.

Reduction of Drag Coefficient Due To Misaligned Wind‐Waves

AbstractRecent field observations suggest that the air‐sea momentum flux (or the drag coefficient) is significantly reduced when the dominant wind‐forced surface waves are misaligned from local wind. Such conditions may occur under rapidly changing strong winds (such as under tropical cyclones) or in coastal shallow waters where waves are refracted by bottom topography. A recent Large Eddy Simulation (LES) study also shows that the drag coefficient is reduced by a misaligned strongly forced wave train (with a small wave age of 1.37). In order to investigate more realistic field conditions, this study employs LES to examine the effect of a misaligned (up to 90°) surface wave train over a wide range of wave age up to 10.95. For all wave ages examined, the drag coefficient is reduced compared to the flat surface condition when the misalignment angle exceeds around 22.5°–45°. The drag reduction may occur even if the form drag of the wave train is positive.

Acute fibrinosis and organized pneumonia

Acute fibrinous and organizing pneumonia (AFOP), first described histologically by Beasley et al.1 in 2002. AFOP occurs in a wide age range (38-78 age) and in a non-sexist spectrum of patients. Although idiopathic cases have been reported, case series in which the underlying etiology is known. The histologically specific pattern is the presence of organized intra-alveolar fibrin and is the essential parameter for diagnosis. There is no significant difference in the radiological pattern except for the halo finding in the comparison of AFOP and COP. In patients presenting with an acute and more fulminant picture, the clinic presents with rapidly worsening respiratory failure. The main complaints were fever, cough and chest pain respectively. Since AFOP is a diagnosis of exclusion, most patients are diagnosed with pneumonia that does not respond to treatment or has delayed resolution during follow up. Although the clinical presentations of the fulminant and subacute forms of AFOP are different, a clear distinction cannot be made for treatment due to the high mortality of the fulminant form. The prognosis is poor in acute fulminant cases.

Provenance and depositional age of metasedimentary rocks in the Frontenac terrane (Grenville Province, Ontario)

The Mesoproterozoic Frontenac terrane in the southern Grenville Province of Ontario is separated by shear zones from the Composite Arc Belt to the west and the Adirondack Lowlands to the east. The majority of the terrane is made up of granulite-facies metasedimentary rocks that are the oldest lithologies recognized in the terrane. Five samples were selected for U–Pb geochronology to constrain (1) metamorphic age, (2) depositional age of sedimentary protoliths, and (3) source regions of detrital zircon. Two pelitic gneisses and a marble are dominated by metamorphic zircon, whereas two quartzites contain a diverse population of detrital zircon that are surrounded by metamorphic overgrowths. Metamorphic zircon have 206Pb/207Pb ages of 1.19–1.16 Ga, and a small population is 1.22 Ga. These ages correspond to the Shawinigan and Elzevirian orogenies and provide minimum ages for deposition. The youngest detrital grains with ages of 1.25–1.24 Ga provide maximum depositional ages. Quartzites (and pelitic gneisses) have a wide range of detrital zircon ages that reflect local Mesoproterozoic Grenville sources and Paleoproterzoic and Archean sources in the northern Grenville Province and elsewhere in Laurentia. Most notable is a large population of 1.9–1.8 Ga zircon, which points towards derivation from the Penokean orogen in the midcontinent or Makkovikian–Ketilidian orogen of Labrador and Greenland, indicating long sedimentary transport distances. The similarities in depositional ages and detrital zircon ages between Frontenac terrane and Adirondack metasedimentary rocks suggest a shared sedimentary history, which we interpret as deposition in the same Trans-Adirondack backarc basin at ca. 1.25 Ga.

Age-related trajectories of the development of social cognition.

Age-related trajectories of intrinsic functional connectivity (iFC), which represent the interconnections between discrete regions of the human brain, for processes related to social cognition (SC) provide evidence for social development through neural imaging and can guide clinical interventions when such development is atypical. However, due to the lack of studies investigating brain development over a wide range of ages, the neural mechanisms of SC remain poorly understood, although considerable behavior-related evidence is available. The present study mapped vortex-wise iFC features between SC networks and the entire cerebral cortex by using common functional networks, creating the corresponding age-related trajectories. Three networks [moral cognition, theory of mind (ToM), and empathy] were selected as representative SC networks. The Enhanced Nathan Kline Institute-Rockland Sample (NKI-RS, N = 316, ages 8-83 years old) was employed delineate iFC characteristics and construct trajectories. The results showed that the SC networks display unique and overlapping iFC profiles. The iFC of the empathy network, an age-sensitive network, with dorsal attention network was found to exhibit a linear increasing pattern, that of the ventral attention network was observed to exhibit a linear decreasing pattern, and that of the somatomotor and dorsal attention networks was noted to exhibit a quadric-concave iFC pattern. Additionally, a sex-specific effect was observed for the empathy network as it exhibits linear and quadric sex-based differences in iFC with the frontoparietal and vision networks, respectively. The iFC of the ToM network with the ventral attention network exhibits a pronounced quadric-convex (inverted U-shape) trajectory. No linear or quadratic trajectories were noted in the iFC of the moral cognition network. These findings indicate that SC networks exhibit iFC with both low-level (somatomotor, vision) and high-level (attention and control) networks along specific developmental trajectories. The age-related trajectories determined in this study advance our understanding of the neural mechanisms of SC, providing valuable references for identification and intervention in cases of development of atypical SC.

Let the records speak: an exploration of rehabilitation services offered in primary healthcare, Johannesburg metropolitan district

BackgroundPrimary healthcare in South Africa aims to transform the national health system by emphasising community-based care and preventive strategies. However, rehabilitation services, particularly for individuals with disabilities and chronic non-communicable diseases, are often overlooked in primary healthcare. This study aimed to investigate the provision of primary healthcare rehabilitation services in the Johannesburg Metropolitan District by exploring client sociodemographics and variations in services provided by rehabilitation professionals.MethodsA retrospective review of clinic rehabilitation records from 2011 to 2020 was conducted at nine provincially funded community health centres (CHCs) offering rehabilitation services. Stratified sampling facilitated record selection based on rehabilitation service type and year. A specifically designed data extraction tool captured demographics, disabilities, rehabilitation received, and referral sources. Descriptive analysis used means, standard deviations, and frequencies.ResultsThe findings show a diverse client population with a wide age range, with a significant proportion falling into the < 5 years and 30–49 years age groups. Neuromusculoskeletal and movement-related disabilities were most prevalent, affecting approximately two-thirds of clients. Referral sources were often undocumented, and inconsistent discharge information with no record of patient follow up, highlighted the need for improved documentation practices. Clinic visits were the primary service delivery mode, followed by limited home visits and outreach services. Occupational therapy and physiotherapy were the most used services. Speech and language therapy services were underused, and some CHCs lacked audiology services. There were variations in the number of individual and group sessions provided by the different rehabilitation services, and there were age- and disability-specific differences in service use.ConclusionThis study offers insights into rehabilitation service provision in the Johannesburg Metropolitan District and enhances our understanding of rehabilitation services in primary healthcare settings. It underscores the importance of a multidisciplinary rehabilitation team to address diverse rehabilitation needs, improving documentation and discharge practices, expanding service delivery models, and reducing disparities in service use. The findings inform strategies for optimising service delivery, workforce, resource allocation, and intersectoral collaboration to ultimately enhance the quality and accessibility of integrated rehabilitation services.

A rare KMT2A::CBL transcript in an acute monoblastic leukemia patient with an unfavorable outcome

BackgroundLysine [K] methyltransferase 2A (KMT2A, previously known as MLL) gene rearrangements are common in acute leukemias of various lineages and are associated with features such as chemotherapy resistance and rapid relapse. KMT2A::CBL is a rare fusion of unknown pathogenesis generated by a unique interstitial deletion of chromosome 11 that has been reported across a wide age range in both acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) patients. The leukemogenic effect of the KMT2A::CBL rearrangement and its association with clinical prognosis have not been well clarified.Methods and resultsWe report the case of a 64-year-old female who was diagnosed with acute monoblastic leukemia (M5a) and who acquired the rare KMT2A::CBL fusion. The patient received multiple cycles of therapy but did not achieve remission and eventually succumbed to severe infection and disease progression. Additionally, we characterized the predicted KMT2A-CBL protein structure in this case to reveal the underlying leukemogenic mechanisms and summarized reported cases of hematological malignancies with KMT2A::CBL fusion to investigate the correlation of gene rearrangements with clinical outcomes.ConclusionsThis report provides novel insights into the leukemogenic potential of the KMT2A::CBL rearrangement and the correlation between gene rearrangements and clinical outcomes.

From Niche Narrative to Audio Blockbusters

From Niche Narrative to Audio Blockbusters

Self-mutilation: a systematic review.

Self-mutilation lesions can represent a clinical diagnosis challenge for healthcare professionals, as patients do not admit to self-mutilation. This leads to failed diagnoses due to the similarity of this condition to other diseases. Searches on the subject were carried out at the PubMed, Periódicos Capes, Scopus, Science Direct and WoS databases, according to the following inclusion criteria: articles in English, Portuguese or Spanish, published from 2018 to June 2023, encompassing case reports, case series and literature reviews. Men are slight more affected by self-mutilation injuries, also presenting the most serious lesions. Self-mutilation injuries are reported globally, mostly in the Asian and American continents. Clinical presentations are varied, but morphology is, in most cases, associated to the form/instrument used for self-mutilation. Greater evidence of diagnosed mental disorders in women and underreporting of these cases in men due to low demands for specialized treatment are noted. A higher prevalence of self-mutilation lesions was verified for men, affecting a wide age range, with the highest number of cases in the USA. The most affected body areas are arms and external genitalia, mostly due to knife use. An association between self-mutilation injuries and mental disorders is clear, with most cases being previously undiagnosed.

A pre-longitudinal screen of performance in an integrated assessment of throwing and catching competence

ABSTRACT Background: The ability to adapt motor skill performance to a variety of conditions is vital to success in physical activity settings. Valid and reliable measurements of motor competence (MC) are critical for understanding its impact on physical health. Many widely used MC assessments evaluate the performance of isolated motor skills, place performers in highly standardized environments, and limit opportunities to adapt performance. Consequently, evaluations of motor skill performance using these tools may not adequately differentiate motor skill levels. Assessing MC in more dynamic performance contexts may enhance the utility of MC measures. Purpose: The purpose of this study was to examine the developmental validity of scores on a combined throwing and catching assessment. Data Collection and Analysis: Data were collected on a convenience sample (n = 873, n female = 320, age = 14.7 years ± 4.2). Participants threw a regulation tennis ball against a wall from a distance three times their standing height and caught it as many times as possible in 30 s. Performers were free to use any throwing pattern (e.g. over/underarm) or task strategy (e.g. speed, trajectory of ball, ball bouncing, one- or two-handed catch). The highest number of catches between two 30-second trials was used for analysis. Descriptive statistics were calculated for the total sample and for males and females separately. Pearson correlations were used to evaluate the relationship between throw-catch assessment (TCA) scores and age. We evaluated the relationship between TCA score, sex, and age via hierarchical regression with TCA score as the dependent variable using three models: (1) Participant sex as the sole predictor, (2) sex and age as predictors, and (3) sex, age, and the quadratic term for age (age2). Additionally, we evaluated the reliability of scores on TCA assessment trials via intraclass correlations (ICCs) using a two-way, fixed effects model. Results: The mean TCA score was 11.34 (± 5.44; M females = 9.18 ± 4.80, M males = 12.59 ± 5.40). Strong relationships were observed between TCA score and age (r = .743, r females = .698, r males = .746; all significant at p < .001). Significant increases in model fit were observed at each stage of the hierarchical regression (Model 1: R 2 = .091, p < .01; Model 2: ΔR 2 = .484, p < .01; Model 3: ΔR 2 = .009, p < .01), with the final model indicating significant effects for sex (β male = 1.95, p < .01), age (β = 2.01, p < .01) and age2 (β = –.04, p < .01) on TCA score (R 2 = .584, F 3,869 = 406.7, p < .001). Finally, there was good reliability between scores on the two TCA trials (ICC = .875, F 872,873 = 14.97, p < .001). Discussion: These data provide preliminary evidence for the developmental validity of the TCA across childhood to young adulthood. The ability to differentiate skill levels across a wide age-range can enhance the ability to track MC across the lifespan and better understand the relationship between covariates of MC across the lifespan. These data provide support for a MC assessment that can be used by researchers and practitioners to evaluate throwing and catching skill in a swift and ecologically valid way.

Pedestrians injuries in the north east region of Jamaica: a cross sectional study

ABSTRACT To describe the sociodemographic data of injured pedestrians, temporal patterns of injury, injury patterns, and the independent predictors of hospital admission. A two year cross-sectional study was conducted at the Saint Ann’s Bay Regional Hospital in pedestrians with injuries post collision with a motor vehicle. A census was performed in all patients who received either emergency room treatment, hospital admission, or surgical intervention. A 30-item interviewer questionnaire was administered to collect the data. A logical regression model was used to determine independent predictors for hospital admission. Ninety pedestrians were included. Age range: 6-86 years old (Mean=39.9). Males were 63.3%, 75.6% were employed, 31% had a chronic illness and 27% reported marijuana use. Most injuries occurred in April, lowest injury rates occurred in August and September. Twenty two percent of collisions occurred on Saturdays. Most injuries occurred at 5pm and 3pm. Many (54.4%) had a fracture, 73.5% were closed. Approximately 32% had contusions and 6.7% had lacerations. Independent predictors of admission were history of marijuana use and having a fracture. Those with history of marijuana use were 4.21 times more likely to be admitted. Those with fractures were 7.10 times more likely to be admitted. Injury patterns spanned a wide age range. They often involved a high energy mechanism of injury as evidenced by the frequency of fractures, hospital admission and surgery intervention rates. The data also suggests a need to implement marijuana testing programmes in our road users.