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Sensory features are included in the diagnostic criteria of autism spectrum disorder, and sensory responsiveness may produce "cascading effects" on later development. However, the relation between early sensory profiles and later skills has yet to be defined. This study aims to characterize sensory subgroups in 116 toddlers at elevated likelihood for autism spectrum disorder and test their association with later autistic traits and diagnosis. We used latent class analyses to assess individual differences across sensory patterns, grouping individuals with similar sensory profiles together. The final model was chosen based on a stepwise procedure, starting with a one-class solution, and then adds one class at a time. The Sensory Profile-2 Questionnaire measured clinical sensory features, and four sensory patterns were evaluated (seeking, avoiding, sensitivity, and registration). We investigated sensory subgroups concerning socio-communication skills and restricted/repetitive behaviors at 24 months and the clinical best-estimate diagnosis at 3 years. A three-class solution was favored, and toddlers can be characterized into three homogeneous sensory groups: low seeking, sensory balanced, and high sensitivity. The results showed that the high sensitivity group showed later socio-communicative difficulties and restricted/repetitive behaviors. Children in this class were those with the highest percentage of diagnosis at 3 years (57.9%). These findings provide new insights into the nature of sensory processing and may have implications for personalized support needs.

The COVID-19 pandemic has fast-tracked interest in telehealth methods to guarantee the continuity of care of children with Autism Spectrum Disorder (ASD). Store-and-forward telehealth approaches offer the opportunity to facilitate timely screening of ASD, allowing parents to record videos of their child's behaviors, subsequently shared with clinicians that provide an assessment remotely. This study aimed to examine the psychometric properties of a new telehealth screening tool, the teleNIDA, administered in home settings for remote observation of early signs of ASD in toddlers aged 18--30 months. Results showed good psychometric properties of the teleNIDA, as compared to the gold standard in-person assessment, and the predictive validity on the diagnosis of ASD at 36 months was demonstrated. This study supports the teleNIDA as a promising level 2 screening tool for ASD able to speed up diagnostic and intervention processes.

Abstract Introduction Syphilis is a systemic bacterial infection caused by the spirochete Treponema pallidum. Head and neck mucosal manifestations of syphilis can be observed in each and all of primary, secondary and tertiary syphilis, especially in the secondary one. Therefore, oropharynx is an unusual localization of syphilitic lesions, mainly represented by ulcerous lesions, tissue hypertrophy, mucosal patches and cancer-like lesions. Serology is routinely considered the gold standard for the screening and diagnosis of syphilis. However, direct detection is routinely used during polymerase chain reaction (PCR) of oropharyngeal tissue and suspicious cervical lymphadenopathies. Methods PRISMA 2020 guidelines were applied to make a systematic literature review with the aim to make an overview of clinical manifestations and diagnostic tools of oropharyngeal syphilitic infection. A computerized MEDLINE search was performed using the PubMed, Web of Science and Cochrane databases. Results The intended analysis was based on 38 papers, including a total of 55 cases. The main localization of oropharyngeal infection was the tonsil (71%), followed by lateral and posterior wall of oropharynx (16%). Ulcerous lesions were the most frequently encountered lesions in the primary syphilis (56%) and secondary syphilis (36%), whereas gumma’s lesions were encountered in the tertiary syphilis (57%). Diagnosis based on serological assays was used in combination with non-treponemal methods to determine disease activity (80% cases). Conclusions Oropharyngeal syphilis has historically been referred to as the “great imitator” due to its highly variable manifestations, which can resemble malignancies. Physicians have to recognize oropharyngeal luetic features early, in order to set up an effective diagnostic and therapeutic work-up.

Abstract Background The parasagittal dura, a tissue that lines the walls of the superior sagittal sinus, acts as an active site for immune-surveillance, promotes the reabsorption of cerebrospinal fluid, and facilitates the removal of metabolic waste products from the brain. Cerebrospinal fluid is important for the distribution of growth factors that signal immature neurons to proliferate and migrate. Autism spectrum disorder is characterized by altered cerebrospinal fluid dynamics. Methods In this retrospective study, we investigated potential correlations between parasagittal dura volume, brain structure volumes, and clinical severity scales in young children with autism spectrum disorder. We employed a semi-supervised two step pipeline to extract parasagittal dura volume from 3D-T2 Fluid Attenuated Inversion Recovery sequences, based on U-Net followed by manual refinement of the extracted parasagittal dura masks. Results Here we show that the parasagittal dura volume does not change with age but is significantly correlated with cerebrospinal fluid (p-value = 0.002), extra-axial cerebrospinal fluid volume (p-value = 0.0003) and severity of developmental delay (p-value = 0.024). Conclusions These findings suggest that autism spectrum disorder children with severe developmental delay may have a maldeveloped parasagittal dura that potentially perturbs cerebrospinal fluid dynamics.

Abstract Background Motor difficulties are common in many, but not all, autistic individuals. These difficulties can co-occur with other problems, such as delays in language, intellectual, and adaptive functioning. Biological mechanisms underpinning such difficulties are less well understood. Poor motor skills tend to be more common in individuals carrying highly penetrant rare genetic mutations. Such mechanisms may have downstream consequences of altering neurophysiological excitation-inhibition balance and lead to enhanced behavioral motor noise. Methods This study combined publicly available and in-house datasets of autistic (n = 156), typically-developing (TD, n = 149), and developmental coordination disorder (DCD, n = 23) children (age 3–16 years). Autism motor subtypes were identified based on patterns of motor abilities measured from the Movement Assessment Battery for Children 2nd edition. Stability-based relative clustering validation was used to identify autism motor subtypes and evaluate generalization accuracy in held-out data. Autism motor subtypes were tested for differences in motor noise, operationalized as the degree of dissimilarity between repeated motor kinematic trajectories recorded during a simple reach-to-drop task. Results Relatively ‘high’ (n = 87) versus ‘low’ (n = 69) autism motor subtypes could be detected and which generalize with 89% accuracy in held-out data. The relatively ‘low’ subtype was lower in general intellectual ability and older at age of independent walking, but did not differ in age at first words or autistic traits or symptomatology. Motor noise was considerably higher in the ‘low’ subtype compared to ‘high’ (Cohen’s d = 0.77) or TD children (Cohen’s d = 0.85), but similar between autism ‘high’ and TD children (Cohen’s d = 0.08). Enhanced motor noise in the ‘low’ subtype was also most pronounced during the feedforward phase of reaching actions. Limitations The sample size of this work is limited. Future work in larger samples along with independent replication is important. Motor noise was measured only on one specific motor task. Thus, a more comprehensive assessment of motor noise on many other motor tasks is needed. Conclusions Autism can be split into at least two discrete motor subtypes that are characterized by differing levels of motor noise. This suggests that autism motor subtypes may be underpinned by different biological mechanisms.

Abstract Fusobacteria have been associated to different diseases, including colorectal cancer (CRC), but knowledge of which taxonomic groups contribute to specific conditions is incomplete. We analyzed the genetic diversity and relationships within the Fusobacterium genus. We report recent and ancestral recombination in core genes, indicating that fusobacteria have mosaic genomes and emphasizing that taxonomic demarcation should not rely on single genes/gene regions. Across databases, we found ample evidence of species miss-classification and of undescribed species, which are both expected to complicate disease association. By focusing on a lineage that includes F. periodonticum/pseudoperiodonticum and F. nucleatum, we show that genomes belong to four modern populations, but most known species/subspecies emerged from individual ancestral populations. Of these, the F. periodonticum/pseudoperiodonticum population experienced the lowest drift and displays the highest genetic diversity, in line with the less specialized distribution of these bacteria in oral sites. A highly drifted ancestral population instead contributed genetic ancestry to a new species, which includes genomes classified within the F. nucleatum animalis diversity in a recent CRC study. Thus, evidence herein calls for a re-analysis of F. nucleatum animalis features associated to CRC. More generally, our data inform future molecular profiling approaches to investigate the epidemiology of Fusobacterium-associated diseases.

Action video-games (AVGs) could improve reading efficiency, enhancing not only visual attention but also phonological processing. Here we tested the AVG effects upon three consolidated language-based predictors of reading development in a sample of 79 pre-readers at-risk and 41 non-at-risk for developmental dyslexia. At-risk children were impaired in either phonemic awareness (i.e., phoneme discrimination task), phonological working memory (i.e., pseudoword repetition task) or rapid automatized naming (i.e., RAN of colours task). At-risk children were assigned to different groups by using an unequal allocation randomization: (1) AVG (n = 43), (2) Serious Non-Action Video Game (n = 11), (3) treatment-as-usual (i.e., speech therapy, n = 11), and (4) waiting list (n = 14). Pre- and post-training comparisons show that only phonemic awareness has a significantly higher improvement in the AVG group compared to the waiting list, the non-AVG, and the treatment-as-usual groups, as well as the combined active groups (n = 22). This cross-modal plastic change: (i) leads to a recovery in phonemic awareness when compared to the not-at-risk pre-readers; (ii) is present in more than 80% of AVG at-risk pre-readers, and; (iii) is maintained at a 6-months follow-up. The present findings indicate that this specific multisensory attentional training positively affects how phonemic awareness develops in pre-readers at risk for developmental dyslexia, paving the way for innovative prevention programs.

Abstract Quantum machine learning is often highlighted as one of the most promising practical applications for which quantum computers could provide a computational advantage. However, a major obstacle to the widespread use of quantum machine learning models in practice is that these models, even once trained, still require access to a quantum computer in order to be evaluated on new data. To solve this issue, we introduce a class of quantum models where quantum resources are only required during training, while the deployment of the trained model is classical. Specifically, the training phase of our models ends with the generation of a ‘shadow model’ from which the classical deployment becomes possible. We prove that: (i) this class of models is universal for classically-deployed quantum machine learning; (ii) it does have restricted learning capacities compared to ‘fully quantum’ models, but nonetheless (iii) it achieves a provable learning advantage over fully classical learners, contingent on widely believed assumptions in complexity theory. These results provide compelling evidence that quantum machine learning can confer learning advantages across a substantially broader range of scenarios, where quantum computers are exclusively employed during the training phase. By enabling classical deployment, our approach facilitates the implementation of quantum machine learning models in various practical contexts.

Abstract Background Following a stroke, patients may suffer from alterations in the perception of their own body due to an acquired deficit in body representations. While such changes may impact their quality of life as well as recovery, they are not systematically assessed in clinical practice. This study aims at providing a better understanding of the rate, evolution, and impact on recovery of upper limb (UL) body perceptions (BPs) alterations following stroke. In addition, we will investigate associations among BPs alterations items, their associations with the sensorimotor functions, UL activity, damages in brain structure and connectivity. Methods We developed a new tool named ALPQ (for Affected Limb Perception Questionnaire) to address the present study objectives. It assesses subjective alterations in the perception of the affected UL following stroke, by measuring several dimensions, namely: anosognosia for hemiplegia, anosodiaphoria for hemiplegia, hemiasomatognosia, somatoparaphrenia, personification of the affected limb, illusion of modification of physical characteristics (temperature, weight, length), illusory movements, super- or undernumerary limb, UL disconnection, misoplegia, and involuntary movement. This study combines a cross-sectional and longitudinal design. The completed data sample will include a minimum of 60 acute and 100 sub-acute stroke patients. When possible, patients are followed up to the chronic stage. Complementary evaluations are administered to assess patients’ sensorimotor and cognitive functions as well as UL activity, and brain lesions will be analysed. Discussion This study will provide a better understanding of BPs alterations following stroke: their rate and evolution, as well as their associations with sensorimotor deficit, cognitive profile and UL activity, brain lesions and recovery. Ultimately, the results could support the personalization of rehabilitation strategy according to patients’ UL perception to maximize their recovery. Study registration The protocol for this study has been pre-registered on the Open Science Framework on July the 7th, 2021: https://osf.io/p6v7f .

El osteocondroma es el tumor óseo benigno más frecuente, representa el 35% de los tumores óseos benignos y el 8% de los tumores óseos. Está formado por una exostosis de hueso trabecular recubierta de cartílago que afecta la región metafisaria de los huesos largos, a partir del cartílago de crecimiento, alrededor de la rodilla, en el hombro o la muñeca, y es extremadamente raro en las falanges de la mano o el pie. Crece durante la niñez y la adolescencia hasta alcanzar la madurez esquelética; por lo tanto, su crecimiento en un adulto sugiere la transformación maligna en condrosarcoma, aunque también existen reportes sin malignización. Además, el calcáneo es un hueso corto, por lo que, desde el punto de vista fisiopatológico, sería inesperada la aparición de este tipo de lesión. El objetivo de este artículo es presentar un caso de osteocondroma de calcáneo solitario con crecimiento después de la madurez esquelética, su diagnóstico y tratamiento, así como una revisión bibliográfica. Esta presentación de caso es importante, dados la localización infrecuente y el potencial de transformación maligna del osteocondroma, y la escasa bibliografía sobre el tema.

Abstract Background The COVID-19 pandemic substantially affected the lives of persons with inherited neuromuscular disorders (INMD), causing disruption in clinical and support services. While several studies have investigated mental health, distress and psychosocial resources in the general population during the pandemic, little is known about the experience of persons with INMD. Methods This study was aimed to fill this gap by jointly investigating both psychopathological symptoms and psychosocial resources – specifically, resilience and perceived social support – among persons with INMD during the pandemic, taking into account demographic and clinical factors. Between April and December 2020, 59 participants with INMD (aged 15–59, 71.2% M) completed a questionnaire collecting demographic and clinical data, the Multidimensional Scale of Perceived Social Support, the Resilience Scale for Adults, and the Achenbach System of Empirically Based Assessment. Results Overall, participants showed good levels of resilience and perceived social support. A minority of participants reported clinically relevant psychopathological symptoms, 28.81% for anxiety and depression. Most psychopathological symptoms were negatively correlated with resilience (-0.347

Abstract The development of media for cell culture is a major issue in the biopharmaceutical industry, for the production of therapeutics, immune-modulating molecules and protein antigens. Chemically defined media offer several advantages, as they are free of animal-derived components and guarantee high purity and a consistency in their composition. Microorganisms of the genus Leishmania represent a promising cellular platform for production of recombinant proteins, but their maintenance requires supplements of animal origin, such as hemin and fetal bovine serum. In the present study, three chemically defined media were assayed for culturing Leishmania tarentolae, using both a wild-type strain and a strain engineered to produce a viral antigen. Among the three media, Schneider's Drosophila Medium supplemented with Horseradish Peroxidase proved to be effective for the maintenance of L. tarentolae promastigotes, also allowing the heterologous protein production by the engineered strain. Finally, the engineered strain was maintained in culture up to the 12th week without antibiotic, revealing its capability to produce the recombinant protein in the absence of selective pressure.

Abstract Background Artemisinin-based combination therapy (ACT) has been a major contributor to the substantial reductions in global malaria morbidity and mortality over the last decade. In Tanzania, artemether-lumefantrine (AL) was introduced as the first-line treatment for uncomplicated Plasmodium falciparum malaria in 2006. The World Health Organization (WHO) recommends regular assessment and monitoring of the efficacy of the first-line treatment, specifically considering that artemisinin resistance has been confirmed in the Greater Mekong sub-region. This study's main aim was to assess the efficacy and safety of AL for treating uncomplicated P. falciparum malaria in Tanzania. Methods This was a single-arm prospective antimalarial drug efficacy trial conducted in four of the eight National Malaria Control Programme (NMCP) sentinel sites in 2019. The trial was carried out in outpatient health facilities in Karume-Mwanza region, Ipinda-Mbeya region, Simbo-Tabora region, and Nagaga-Mtwara region. Children aged six months to 10 years with microscopy confirmed uncomplicated P. falciparum malaria who met the inclusion criteria were recruited based on the WHO protocol. The children received AL (a 6-dose regimen of AL twice daily for three days). Clinical and parasitological parameters were monitored during follow-up over 28 days to evaluate drug efficacy. Results A total of 628 children were screened for uncomplicated malaria, and 349 (55.6%) were enrolled between May and September 2019. Of the enrolled children, 343 (98.3%) completed the 28-day follow-up or attained the treatment outcomes. There were no early treatment failures; recurrent infections during follow-up were common at two sites (Karume 29.5%; Simbo 18.2%). PCR-corrected adequate clinical and parasitological response (ACPR) by survival analysis to AL on day 28 of follow-up varied from 97.7% at Karume to 100% at Ipinda and Nagaga sites. The commonly reported adverse events were cough, skin pallor, and abdominal pain. The drug was well tolerated, and no serious adverse event was reported. Conclusion This study showed that AL had adequate efficacy and safety for the treatment of uncomplicated falciparum malaria in Tanzania in 2019. The high recurrent infections were mainly due to new infections, highlighting the potential role of introducing alternative artemisinin-based combinations that offer improved post-treatment prophylaxis, such as artesunate-amodiaquine (ASAQ).

Abstract Plasmodium falciparum with the histidine rich protein 2 gene (pfhrp2) deleted from its genome can escape diagnosis by HRP2-based rapid diagnostic tests (HRP2-RDTs). The World Health Organization (WHO) recommends switching to a non-HRP2 RDT for P. falciparum clinical case diagnosis when pfhrp2 deletion prevalence causes ≥ 5% of RDTs to return false negative results. Tanzania is a country of heterogenous P. falciparum transmission, with some regions approaching elimination and others at varying levels of control. In concordance with the current recommended WHO pfhrp2 deletion surveillance strategy, 100 health facilities encompassing 10 regions of Tanzania enrolled malaria-suspected patients between February and July 2021. Of 7863 persons of all ages enrolled and providing RDT result and blood sample, 3777 (48.0%) were positive by the national RDT testing for Plasmodium lactate dehydrogenase (pLDH) and/or HRP2. A second RDT testing specifically for the P. falciparum LDH (Pf-pLDH) antigen found 95 persons (2.5% of all RDT positives) were positive, though negative by the national RDT for HRP2, and were selected for pfhrp2 and pfhrp3 (pfhrp2/3) genotyping. Multiplex antigen detection by laboratory bead assay found 135/7847 (1.7%) of all blood samples positive for Plasmodium antigens but very low or no HRP2, and these were selected for genotyping as well. Of the samples selected for genotyping based on RDT or laboratory multiplex result, 158 were P. falciparum DNA positive, and 140 had sufficient DNA to be genotyped for pfhrp2/3. Most of these (125/140) were found to be pfhrp2+/pfhrp3+, with smaller numbers deleted for only pfhrp2 (n = 9) or only pfhrp3 (n = 6). No dual pfhrp2/3 deleted parasites were observed. This survey found that parasites with these gene deletions are rare in Tanzania, and estimated that 0.24% (95% confidence interval: 0.08% to 0.39%) of false-negative HRP2-RDTs for symptomatic persons were due to pfhrp2 deletions in this 2021 Tanzania survey. These data provide evidence for HRP2-based diagnostics as currently accurate for P. falciparum diagnosis in Tanzania.