Incarceration of a part of the gastric wall into the abdominal cavity in a patient with hiatal hernia and complete dislocation of the stomach (upside-down stomach).

An upside-down stomach is a rare type of hiatal hernia. An 83-year-old woman presented to the emergency room with abdominal pain and vomiting. Computed tomography revealed an upside-down stomach and the incarceration of a part of the gastric body into the abdominal cavity. Upper gastrointestinal endoscopy revealed a circular ulcer caused by gastric ischemia. Although she was discharged after 1 week of conservative therapy, she was readmitted to the hospital 1 day after discharge because of a recurrence of hiatal hernia incarceration. She underwent laparoscopic surgery 4 days after readmission and recovered successfully.

Guideline for treating relapsed or refractory myeloid leukemia in children with Down syndrome.

Treatment of relapsed and refractory myeloid leukemia in Down syndrome (r/r ML-DS) poses significant challenges, as prognosis is dire and there is no established standard treatment. This guideline provides treatment recommendations based on a literature review and collection of expert opinions, aiming to improve overall and event-free survival of patients. Treatment options include fludarabine and cytarabine (FLA) ± gemtuzumab ozogamicin (GO), azacytidine (AZA) ± panobinostat, and hematopoietic stem cell transplantation (HSCT). Preferred approaches are AZA ± panobinostat for cases with low blast count or FLA ± GO for cases with high blast count, followed by HSCT after remission. Further research is crucial for the investigation of targeted therapies (e.g., BH3 mimetics, LSD1, JAK inhibitors).

Broadband sensitized near-infrared emission in Eu2+-Nd3+ co-doped BaAl2O4 as a potential spectral modulator for silicon solar cells.

The near-infrared (NIR) down-conversion process for broadband sensitization has been studied in Eu2+-Nd3+ co-doped BaAl2O4. This material has a broad absorption band of 200-480 nm and can convert photons in the visible region into NIR photons. The NIR emission at 1064 nm, attributed to the Nd3+:4F3/2 → 4I11/2 transition, matches the bandgap of Si, allowing Si solar cells to utilize the solar spectrum better. The energy transfer (ET) process between Eu2+ and Nd3+ was demonstrated using photoluminescence spectra and luminescence decay curves, and Eu2+ may transfer energy to Nd3+ through the cooperative energy transfer (CET) to achieve the down-conversion process. The energy transfer efficiency (ETE) and theoretical quantum efficiency (QE) were 68.61% and 156.34%, respectively, when 4 mol% Nd3+ was introduced. The results indicate that BaAl2O4:Eu2+-Nd3+ can serve as a potential modulator of the solar spectrum and is expected to be applied to Si solar cells.

Non-word repetition and vocabulary in Kuwaiti Arabic-speaking children with down syndrome and typically developing children.

OVERVIEW: Non-word repetition (NWR) is one of the most effective predictors of language impairments in children as it has been found to correlate with various language measures and the association between NWR and vocabulary is well documented in typically developing (TD) studies. However, there is a dire need for investigations of language skills in Kuwaiti Arabic individuals with Down Syndrome, and this study set out to fill a gap in this field. METHOD: In this paper, we compare the vocabulary and NWR skills of a group of 48 individuals with DS aged 6-20 years to a group of 44 TD children aged 3-10 years matched on nonverbal IQ. Furthermore, we investigate the correlations among these language measures in the two groups and examine whether NWR can predict receptive and expressive vocabulary in these two groups. RESULT: Results found DS participants performed significantly less than the TD group on the three language measures (receptive vocabulary t(90)= -3.17, p < .01, expressive vocabulary t(90)= -3.27, p < .01, and NWR t(90)= -8.32, p < .01). Moreover, there were strong correlations between NWR and vocabulary (receptive and expressive) in the TD group but not the DS group. CONCLUSION: Findings supported the working memory model and the phonological processing account for the TD group. On the other hand, the poor association between NWR and vocabulary in the DS group might be due to poor phonological discrimination difficulties and speech discrimination difficulties.

Autism Among Adults with Down Syndrome: Prevalence, Medicaid Usage, and Co-Occurring Conditions.

Our objective was to examine occurrence of both conditions in Medicaid; and compare Medicaid service use and cost, and chronic conditions among adults with Down syndrome and autism to those with Down syndrome alone and those with autism alone. We used ICD9 and ICD10 codes in Medicaid claims and encounters from 2011 to 2019 to identify autism and Down syndrome in adults > 18 years. We then calculated costs, claims, hospitalizations, long term care days, and chronic conditions, and compared by group- autism alone, Down syndrome alone, Down syndrome + autism. Between 2011 and 2019, there were 519,450 adult Medicaid enrollees who met our criteria for autism (N = 396,426), Down syndrome (N = 116,422), or both Down syndrome and autism (N = 6,602). In 2011, 4.1% of enrollees with Down syndrome had co-occurring autism; by 2011 it was 6.6%. The autism group had the fewest claims and inpatient hospitalizations, followed by the Down syndrome group, then the Down syndrome + autism group. After age adjustment, those with Down syndrome alone and Down syndrome + autism had elevated prevalence of atrial fibrillation, dementia, heart failure, kidney disease, and obesity compared to the autism alone group. Both groups also had decreased occurrence of depression and hypertension compared to the autism alone group. Prevalence of autism is higher among people with Down syndrome than in peers. The increased costs and service use for those with both conditions highlight the extent to which this population need health care and signal the need for more effective preventative care and therapies.

Determining KRAS4B-Targeting Compound Specificity by Top-Down Mass Spectrometry.

We present a novel method to determine engagement and specificity of KRAS4B-targeting compounds in vitro. By employing top-down mass spectrometry (MS), which analyzes intact and modified protein molecules (proteoforms), we can directly visualize and confidently characterize each KRAS4B species within compound-treated samples. Moreover, by employing targeted MS2 fragmentation, we can precisely localize each compound molecule to a specific residue on a given KRAS4B proteoform. This method allows us to comprehensively evaluate compound specificity, clearly detect nonspecific binding events, and determine the order and frequency with which they occur. We provide two proof-of-concept examples of our method employing publicly available compounds, along with detailed protocols for sample preparation, top-down MS data acquisition, targeted proteoform MS2 fragmentation, and analysis of the resulting data. Our results demonstrate the concentration dependence of KRAS4B-compound engagement and highlight the ability of top-down MS to directly map compound binding location(s) without disrupting the KRAS4B primary structure. Our hope is that this novel method may help accelerate the identification of new successful targeted inhibitors for KRAS4B and other RAS isoforms.

A clinical-translational review of sleep problems in neurodevelopmental disabilities.

Sleep disorders are very common across neurodevelopmental disorders and place a large burden on affected children, adolescents, and their families. Sleep disturbances seem to involve a complex interplay of genetic, neurobiological, and medical/environmental factors in neurodevelopmental disorders. In this review, we discuss animal models of sleep problems and characterize their presence in two single gene disorders, Rett Syndrome, and Angelman Syndrome and two more commonly occurring neurodevelopmental disorders, Down Syndrome, and autism spectrum disorders. We then discuss strategies for novel methods of assessment using wearable sensors more broadly for neurodevelopmental disorders in general, including the importance of analytical validation. An increased understanding of the mechanistic contributions and potential biomarkers of disordered sleep may offer quantifiable targets for interventions that improve overall quality of life for affected individuals and their families.

Following the Evolutionary Paths of Dscam1 Proteins toward Highly Specific Homophilic Interactions.

Many adhesion proteins, evolutionarily related through gene duplication, exhibit distinct and precise interaction preferences and affinities crucial for cell patterning. Yet, the evolutionary paths by which these proteins acquire new specificities and prevent cross-interactions within their family members remain unknown. To bridge this gap, this study focuses on Drosophila Down syndrome cell adhesion molecule-1 (Dscam1) proteins, which are cell adhesion proteins that have undergone extensive gene duplication. Dscam1 evolved under strong selective pressure to achieve strict homophilic recognition, essential for neuronal self-avoidance and patterning. Through a combination of phylogenetic analyses, ancestral sequence reconstruction, and cell aggregation assays, we studied the evolutionary trajectory of Dscam1 exon 4 across various insect lineages. We demonstrated that recent Dscam1 duplications in the mosquito lineage bind with strict homophilic specificities without any cross-interactions. We found that ancestral and intermediate Dscam1 isoforms maintained their homophilic binding capabilities, with some intermediate isoforms also engaging in promiscuous interactions with other paralogs. Our results highlight the robust selective pressure for homophilic specificity integral to the Dscam1 function within the process of neuronal self-avoidance. Importantly, our study suggests that the path to achieving such selective specificity does not introduce disruptive mutations that prevent self-binding but includes evolutionary intermediates that demonstrate promiscuous heterophilic interactions. Overall, these results offer insights into evolutionary strategies that underlie adhesion protein interaction specificities.

Assessment and Rehabilitation Intervention of Feeding and Swallowing Skills in Children with Down Syndrome Using the Global Intensive Feeding Therapy (GIFT).

BACKGROUND: Children with Down syndrome (DS) experience more difficulties with oral motor skills, including chewing, drinking, and swallowing. The present study attempts to measure the preliminary effectiveness of Global Intensive Feeding Therapy (GIFT) in DS. GIFT is a new rehabilitation program addressing the specific difficulties and needs of each child, focusing on sensory and motor oral abilities. It follows an intensive schedule comprising 15 sessions over 5 consecutive days, with 3 sessions per day. The principles of GIFT are applied with specific objectives for DS. METHODS: GIFT was preliminarily implemented among 20 children diagnosed with DS. To measure the efficacy of GIFT, the Karaduman Chewing Performance Scale (KCPS), the International Dysphagia Diet Standardization Initiative (IDDSI), and the Pediatric Screening-Priority Evaluation Dysphagia (PS-PED) were used. Data were analyzed using the Wilcoxon signed-rank test before (T0) and after intervention (T1) and at one-month follow-up (T2). The effect size was also measured for specific outcomes, using Kendall's W. RESULTS: Our findings revealed that children with DS showed no risk of dysphagia according to the PS-PED (mean score 2.80). Furthermore, statistically significant improvements in chewing performance were observed, as measured by the KCPS (p < 0.01), as well as in texture acceptance and modification, as measured by the IDDSI post-intervention (p < 0.01). For both the KCPS and IDDSI, a large effect size was found (Kendall's W value > 0.8). Parents/caregivers continued using GIFT at home, and this allowed for a positive outcome at the one-month follow-up. CONCLUSIONS: GIFT proved to be effective in the rehabilitation of feeding and swallowing disorders in children with DS, as well as for food acceptance.

Shape Dependent Therapeutic Potential of Nanoparticulate System: Advance Approach for Drug Delivery.

Drug delivery systems rely heavily on nanoparticles because they provide a targeted and monitored release of pharmaceuticals that maximize therapeutic efficacy and minimize side effects. To maximize drug internalization, this review focuses on comprehending the interactions between biological systems and nanoparticles. The way that nanoparticles behave during cellular uptake, distribution, and retention in the body is determined by their shape. Different forms, such as mesoporous silica nanoparticles, micelles, and nanorods, each have special properties that influence how well drugs are delivered to cells and internalized. To achieve the desired particle morphology, shape-controlled nanoparticle synthesis strategies take into account variables like pH, temperatures, and reaction time. Top-down techniques entail dissolving bulk materials to produce nanoparticles, whereas bottom-up techniques enable nanostructures to self-assemble. Comprehending the interactions at the bio-nano interface is essential to surmounting biological barriers and enhancing the therapeutic efficacy of nanotechnology in drug delivery systems. In general, drug internalization and distribution are greatly influenced by the shape of nanoparticles, which presents an opportunity for tailored and efficient treatment plans in a range of medical applications.

An OpenSim thoracolumbar spine model applying a bottom-up modelling approach is similar to a top-down approach.

The kinetic demands of the spine can be assessed using a top-down (TD) or bottom-up (BU) approach, which start calculations from the either the hands or from the feet, respectively. Biomechanists have traditionally favored a BU approach, though existing modeling approaches encourage a TD approach. Regardless of the approach the demands should be similar, provided the external forces and linked segment parameters are equivalently measured and modeled. Demonstrating a level of agreement between the two approaches can help evaluate a model. Further, having both approaches can be advantageous when data is inaccurate or unavailable for one. The purpose of this study was to compare the internal moments and forces at multiple lumbar and thoracic intervertebral joint (IVJ) levels during lifting tasks from an established OpenSim thoracolumbar spine model that applies a TD approach and a similar model modified to adopt a BU approach. Kinematics and external forces were recorded from twelve participants during sagittal and lateral lifts of different lifting speeds and crate masses. For both approaches IVJ kinetics were estimated using a standard OpenSim modeling pipeline. The BU and TD approach IVJ joint moments generally agreed both temporally (R2 = .94 ± .17) and in magnitude (RMSE=6.2 ± 3.5 Nm) of the primary planes of movement. There were however some temporal fit exceptions for off axes moments with low magnitudes (i.e., < 10 Nm). Bland-Altman plots also indicated acceptable agreement for IVJ peak forces (BU-TD difference of 12 ± 111 and 8 ± 31 N in compression and resultant shear, respectfully). These results support the application of the BU approach and the assigned linked segment parameters of the model. The new BU model is available on the SimTK site (https://simtk.org/projects/spine_ribcage).

An investigation of sleep problems, gastrointestinal symptoms, comorbid psychopathology and challenging behavior in children and adolescents with Down Syndrome.

BACKGROUND: Down syndrome (DS) is one of the most common chromosomal abnormalities, and children with DS have increased risks of receiving diagnoses of specific comorbidities. AIMS: This study aimed to assess the frequencies and relationships between sleep problems, gastrointestinal (GI) symptoms, comorbid psychopathology, and challenging behavior. METHODS AND PROCEDURES: The Children's Sleep Habits Questionnaire, Gastrointestinal Symptom Inventory, Autism Spectrum Disorder-Comorbid for Children, and Behavior Problems Inventory-Short Form were completed by 123 parents of children and adolescents with DS. OUTCOMES AND RESULTS: The frequency of GI symptoms was 74.8 %, with high frequencies also found for: sleep problems (100 %), challenging behavior (100 %), and moderate to severe levels of comorbid psychopathology (tantrum=80 %; repetitive behavior=63 %; avoidant behavior=82 %; worry/depressed=61 %; conduct behavior=100 %; over-eating=100 %; under-eating=100 %). A significant moderate correlation was found between total GI symptoms and self-injurious behavior frequency. Children who presented with abdominal pain engaged in self-injurious behavior more frequently than those with no abdominal pain. CONCLUSIONS AND IMPLICATIONS: Findings indicated a high frequency of sleep problems, comorbid psychopathology, GI symptoms, and challenging behavior and demonstrated a relationship between GI symptoms and self-injurious behavior in children and adolescents with DS. This research illustrated the importance of investigating comorbid conditions in individuals with DS. WHAT THIS PAPER ADDS?: Down Syndrome (DS) is a genetic condition characterized by trisomy 21 and is a leading cause of intellectual disability worldwide. The prevalence of DS is commonly associated with advanced maternal age and is associated with multiple comorbid conditions. The current study aimed to investigate the frequency of and relationship between sleep problems, gastrointestinal symptoms, comorbid psychopathology, and challenging behavior in children and adolescents with DS. High-frequency levels were found for sleep problems (100 %), challenging behavior (100 %), gastrointestinal symptoms (74.8 %), and moderate to severe levels of the different comorbid psychopathologies (tantrum=80 %; repetitive behavior=63 %; avoidant behavior=82 %; worry/depressed=61 %; conduct behavior=100 %; over-eating=100 %; under-eating=100 %). Results indicated a significant difference in self-injurious behavior frequency between individuals who presented with abdominal pain and those who did not. This study is the first to investigate the relationship of multiple comorbid conditions in a sample of children with DS. This paper adds to the literature by demonstrating the frequency of a number of comorbid conditions in children and adolescents with DS. The paper also adds novel findings to the literature by investigating the relationships between comorbid conditions in this population. The findings of this paper highlighted the frequency and comorbidities that exist between gastrointestinal symptoms, sleep problems, comorbid psychopathology, and challenging behavior. Analyses indicated that those who presented with abdominal pain, engaged in self-injurious behavior more frequently. Sleep problems, gastrointestinal symptoms, comorbid psychopathology, and challenging behavior in children and adolescents with Down Syndrome.

Orbitofrontal cortex modulates auditory cortical sensitivity and sound perception in Mongolian gerbils.

Sensory perception is dynamic, quickly adapting to sudden shifts in environmental or behavioral context. Although decades of work have established that these dynamics are mediated by rapid fluctuations in sensory cortical activity, we have a limited understanding of the brain regions and pathways that orchestrate these changes. Neurons in the orbitofrontal cortex (OFC) encode contextual information, and recent data suggest that some of these signals are transmitted to sensory cortices. Whether and how these signals shape sensory encoding and perceptual sensitivity remain uncertain. Here, we asked whether the OFC mediates context-dependent changes in auditory cortical sensitivity and sound perception by monitoring and manipulating OFC activity in freely moving Mongolian gerbils of both sexes under two behavioral contexts: passive sound exposure and engagement in an amplitude modulation (AM) detection task. We found that the majority of OFC neurons, including the specific subset that innervates the auditory cortex, were strongly modulated by task engagement. Pharmacological inactivation of the OFC prevented rapid context-dependent changes in auditory cortical firing and significantly impaired behavioral AM detection. Our findings suggest that contextual information from the OFC mediates rapid plasticity in the auditory cortex and facilitates the perception of behaviorally relevant sounds.

Hippocampal CA1 Pyramidal Neurons Display Sublayer and Circuitry Dependent Degenerative Expression Profiles in Aged Female Down Syndrome Mice.

Background: Individuals with Down syndrome (DS) have intellectual disability and develop Alzheimer's disease (AD) pathology during midlife, particularly in the hippocampal component of the medial temporal lobe memory circuit. However, molecular and cellular mechanisms underlying selective vulnerability of hippocampal CA1 neurons remains a major knowledge gap during DS/AD onset. This is compounded by evidence showing spatial (e.g., deep versus superficial) localization of pyramidal neurons (PNs) has profound effects on activity and innervation within the CA1 region. Objective: We investigated whether there is a spatial profiling difference in CA1 PNs in an aged female DS/AD mouse model. We posit dysfunction may be dependent on spatial localization and innervation patterns within discrete CA1 subfields. Methods: Laser capture microdissection was performed on trisomic CA1 PNs in an established mouse model of DS/AD compared to disomic controls, isolating the entire CA1 pyramidal neuron layer and sublayer microisolations of deep and superficial PNs from the distal CA1 (CA1a) region. Results: RNA sequencing and bioinformatic inquiry revealed dysregulation of CA1 PNs based on spatial location and innervation patterns. The entire CA1 region displayed the most differentially expressed genes (DEGs) in trisomic mice reflecting innate DS vulnerability, while trisomic CA1a deep PNs exhibited fewer but more physiologically relevant DEGs, as evidenced by bioinformatic inquiry. Conclusions: CA1a deep neurons displayed numerous DEGs linked to cognitive functions whereas CA1a superficial neurons, with approximately equal numbers of DEGs, were not linked to pathways of dysregulation, suggesting the spatial location of vulnerable CA1 PNs plays an important role in circuit dissolution.

Parent-reported genetic counselor adherence to the NSGC practice resource for communicating a potential prenatal diagnosis: Impact on the Down syndrome diagnosis experience.

In 2011, the National Society of Genetic Counselors (NSGC) published practice resources about communicating a prenatal or postnatal diagnosis of Down syndrome (DS). However, the impact of GC adherence to those recommendations on patient experiences has been unknown. The objective of this analysis was to investigate perceived GC adherence to professional recommendations for delivering a DS diagnosis and the impact on parental diagnosis experiences and the information and support offered. Parents of children with DS born between 2016 and 2021 completed a survey distributed by 12 local DS organizations and the national DS Diagnosis Network to assess prenatal diagnosis experiences and the provision of support and information by health professionals. Participants were queried about whether their GC followed specific recommendations from the NSGC practice resource. Respondents were also invited to describe their diagnosis experience. An overall perceived adherence score was calculated (percentage of elements GC demonstrated/total number of elements). Open-ended responses were inductively coded by a GC and GC student to identify categories and to perform a sentiment analysis where 1 was completely negative, 2 was mixed/more negative, 3 was neutral, 4 was mixed/more positive, and 5 was completely positive. The GCs were blinded to participants' perceived adherence scores while performing the sentiment analysis. Of the 242 parents who completed the survey, 161 respondents answered questions about GC's perceived practice resource adherence. The median perceived adherence score was 42.9% (IQR 21.4-71.4)%. A total of 61 people provided an open-ended response about their prenatal diagnosis experience with a GC and were assigned a sentiment score. The median sentiment score was 3 (IQR 1-5). Kendall's Tau analysis showed that higher perceived practice resource adherence was associated with more positive sentiment scores. These results suggest that NSGC practice resource adherence may improve the prenatal diagnosis experiences of parents of children with DS and have the potential to improve counseling outcomes.

APP dyshomeostasis in the pathogenesis of Alzheimer's disease: implications for current drug targets.

The Amyloid precursor protein (APP) is a transmembrane glycoprotein from which amyloid-ß (Aß) peptides are generated after proteolytic cleavage. Aß peptides are the main constituent of amyloid plaques in Alzheimer's Disease (AD). The physiological functions of APP in the human adult brain are very diverse including intracellular signaling, synaptic and neuronal plasticity, and cell adhesion, among others. There is growing evidence that APP becomes dysfunctional in AD and that this dyshomeostasis may impact several APP functions beyond Aß generation. The vast majority of current anti-amyloid approaches in AD have focused on reducing the synthesis of Aß or increasing the clearance of brain Aß aggregates following a paradigm in which Aß plays a solo in APP dyshomeostasis. A wider view places APP at the center stage in which Aß is an important, but not the only, factor involved in APP dyshomeostasis. Under this paradigm, APP dysfunction is universal in AD, but with some differences across different subtypes. Little is known about how to approach APP dysfunction therapeutically beyond anti-Aß strategies. In this review, we will describe the role of APP dyshomeostasis in AD beyond Aß and the potential therapeutic strategies targeting APP.

Associations of Cognitive Expectancies With Auditory Hallucinations and Hallucinatory-Like Experiences in Patients With Schizophrenia.

BACKGROUND: Various neurocognitive models explore perceptual distortions and hallucinations in schizophrenia and the general population. A variant of predictive coding account suggests that strong priors, like cognitive expectancy, may influence perception. This study examines if stronger cognitive expectancies result in more auditory false percepts in clinical and healthy control groups, investigates group differences, and explores the association between false percepts and hallucinations. STUDY DESIGN: Patients diagnosed with schizophrenia with current auditory hallucinations (n = 51) and without hallucinations (n = 66) and healthy controls (n = 51) underwent the False Perception Task under various expectancy conditions. All groups were examined for the presence and severity of hallucinations or hallucinatory-like experiences. STUDY RESULTS: We observed a main effect of condition across all groups, ie, the stronger the cognitive expectancy, the greater the ratio of auditory false percepts. However, there was no group effect for the ratio of auditory false percepts. Despite modest pairwise correlations in the hallucinating group, the ratio of auditory false percepts was not predicted by levels of hallucinations and hallucinatory-like experiences in a linear mixed model. CONCLUSIONS: The current study demonstrates that strong priors in the form of cognitive expectancies affect perception and play a role in perceptual disturbances. There is also a tentative possibility that overreliance on strong priors may be associated with hallucinations in currently hallucinating subjects. Possible, avoidable confounding factors are discussed in detail.

How trustworthy is online dental information for individuals with Down syndrome from Ibero-American countries?

BACKGROUND: Internet has become an indispensable source of health-related information. However, several studies have shown there to be a lack of quality control for webpages related to disability. Specifically, available content concerning Down syndrome (DS) and dentistry is limited and of dubious quality. OBJECTIVE: The aim of the present study was to assess the quality of online content in Spanish and Portuguese on dental care for individuals with DS. METHODS: A simultaneous search in Google and Bing using the terms "Down syndrome" and "odontology/dentist/dental treatment" in Spanish and Portuguese was conducted in seven Ibero-American countries (Argentina, Brazil, Chile, Colombia, Spain, Mexico, and Portugal). The first 100 consecutive pages of results from the three combinations of terms in each of the search engines were accessed and selected by applying conventional exclusion criteria. The selected pages were classified according to their authorship, specificity and dissemination potential. The quality of the online content was assessed using the DISCERN questionnaire and the Questionnaire to Evaluate Health Web Sites According to European Criteria (QEEC). The presence of the Health On Net (HON) and Accredited Medical Website (AMW) seals was also assessed. RESULTS: The mean DISCERN score was 2.51 ± 0.85 and 2.57 ± 0.86 for the Spanish and Portuguese webpages, respectively. The mean readability score was 3.43 ± 1.26 and 3.25 ± 1.08 for the Spanish and Portuguese webpages, respectively. None of the selected webpages presented the HONcode or AMW trust seals. CONCLUSIONS: The content available online in Spanish and Portuguese regarding Down syndrome and dentistry is scarce and of highly questionable quality.

Development of a top-down MS assay for specific identification of human periostin isoforms.

Periostin is a matricellular protein encoded by the POSTN gene that is alternatively spliced to produce ten different periostin isoforms with molecular weights ranging from 78 to 91 kDa. It is known to promote fibrillogenesis, organize the extracellular matrix, and bind integrin-receptors to induce cell signaling. As well as being a key component of the wound healing process, it is also known to participate in the pathogenesis of different diseases including atopic dermatitis, asthma, and cancer. In both health and disease, the functions of the different periostin isoforms are largely unknown. The ability to precisely determine the isoform profile of a given human sample is fundamental for characterizing their functional significance. Identification of periostin isoforms is most often carried out at the transcriptional level using RT-PCR based approaches, but due to high sequence homogeneity, identification on the protein level has always been challenging. Top-down proteomics, where whole proteins are measured by mass spectrometry, offers a fast and reliable method for isoform identification. Here we present a fully developed top-down mass spectrometry assay for the characterization of periostin splice isoforms at the protein level.

A rare presentation and treatment challenges for multiple myeloma in down syndrome: A case report and literature review.

Down syndrome (DS), characterized by trisomy 21, significantly increases susceptibility to leukemia, although the occurrence of multiple myeloma (MM) in DS is exceedingly rare. This report details the case of a 45-year-old female with DS who was diagnosed with MM, highlighting diagnostic and therapeutic complexities. It emphasizes the importance of tailored therapeutic strategies for treating MM in individuals with DS and the need for specialized approaches in these cases.