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Background: An association between testicular cancer and Down syndrome has been reported by several studies. Down syndrome with cryptorchidism and retroperitoneal mixed germ cell tumours is rare, and yolk sac tumours are often considered secondary components of mixed germ cell tumours. Herein, we present a rare case of retroperitoneal mixed germ cell tumour with cryptorchidism accompanied by yolk sac tumour and seminoma in a patient with Down syndrome, along with its imaging features. Case presentation: A 42-year-old man was admitted to the hospital for 6 months due to a worsening abdominal pain that was followed by syncope for 8 h. There was a significant increase in AFP and β-HCG levels. An enhanced computed tomography (CT) scan of the entire abdomen showed a mixed cystic solid mass in the retroperitoneal space. Fluorine-2-fluoro-2-deoxy-d-glucose (18F-FDG) positron emission tomography/CT examination showed an abnormal increase in the FDG uptake in the parenchymal part of the mass, with a maximum standardised uptake value of approximately 10.5. The pathological diagnosis was retroperitoneal mixed germ cell tumour (yolk sac tumour + seminoma). One and a half months postoperatively, the tumour recurred. Consequently, the patient underwent chemotherapy, and after one course of treatment, the patient developed bone marrow suppression. Finally, he died due to complications. Conclusions: Yolk sac tumours, the main components of mixed germ cell tumours, are rare in adults and exhibit rapid growth, heightened malignancy, and poor prognoses. CT features play a crucial role in diagnosis. Down syndrome is a high-risk factor for malignant testicular germ cell tumours. Therefore, comprehensive examinations for gonadal and germ cell tumours in patients with Down syndrome are imperative and should be prioritised by clinicians. [ABSTRACT FROM AUTHOR]

Introduction: Patients with Down syndrome have distinctive facial characteristics. Physical abnormalities that have many similarities make people with Down syndrome very similar to each other. This study aimed to determine the clinical facial analysis of patients with Down syndrome using Rhinobase Software. Methods: A descriptive observational study was conducted on patients with Down syndrome aged 10–29 years who met the criteria. Data were obtained through history taking, general facial physical examination and ENT-HN examination. Facial analysis using Rhinobase software. Result: The results obtained were analyzed using the SPSS program. The average age of the sample was 17.7 ± 4.8 years with 73% of the sample being male. In the vertical facial assessment, the proportion of LFH > UFH > MFH was obtained. In the horizontal face assessment, 96% of the samples have En-En < Al-Al ratios. The proportion of the lower face height of people with Down syndrome to the whole face is greater than the proportion of the upper and middle height of the face. Conclusion: The value of the intercanthal distance is greater than the mean ideal intercanthal distance, and the highest proportion was the intercanthal distance which was smaller than the width of the ala nasi. [ABSTRACT FROM AUTHOR]

Relationships and marriages between couples with intellectual disability are to be celebrated, as is the longer life expectancy now enjoyed by many with intellectual disability. However, dementia disproportionately affects people with intellectual disability, especially people with Down's syndrome. Research into experiences of couples without intellectual disability who are affected by dementia suggests that a relational perspective provides health and social care professionals with information to support the wellbeing of both partners. This dyadic perspective is missing for couples with an intellectual disability where one partner has dementia. There is currently no evidence base informing how each partner may best be supported. This scoping review, with three separate searches, aims to address this gap. The first search sought to establish if any studies had explored the experiences of couples with intellectual disability where one partner has dementia. After determining that no studies have been published to date, the review explores what is known about relationships in the context of dementia (N = 8) and in the context of intellectual disability (N = 10), in second and third searches. Different ways to approach care and support in relationships among partners, staff and other family members were identified and it was evident that support could act as a facilitator as well as a barrier to people and their relationships. While the lives of couples affected by dementia appeared to remain largely private, couples with intellectual disability had a high involvement of staff and family members in their life. Potential implications for future research with couples with intellectual disability affected by dementia are discussed, highlighting the importance of exploring how couples navigate emotional complexities and changes in their relationship, while understanding that the context in which the lives of people with intellectual disability take place and relationships happen is different. [ABSTRACT FROM AUTHOR]

Copyright of Journal of the Future of Social Sciences is the property of Future of Social Sciences Journal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: People with Down's syndrome (DS) are at high risk of developing Alzheimer dementia (DS‐AD) due to a triplication of the amyloid precursor protein gene. While several tools to diagnose and screen for DS‐AD, such as the dementia screening questionnaire for individuals with intellectual disabilities (DSQIID), are available in English, validated German versions of such instruments are scarce. Methods: A German version of the DSQIID questionnaire (DSQIID‐G) was completed by caregivers before attending our specialist outpatient department for DS‐AD. All participants were assessed blind to DSQIID‐G scoring using clinical and neuropsychological examinations, including the Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities (CAMDEX‐DS). ICD‐10 and amyloid/tau/neurodegeneration (A/T/N) criteria were applied to detect and categorise cognitive decline. Results: Of 86 participants, 43 (50%) showed evidence of cognitive decline. A definite diagnosis of DS‐AD was reached in 17 (19.8%) and mild cognitive impairment in seven (8.3%) participants. Secondary causes of cognitive decline were determined among 13 (15.1%) participants, and in six (7%) cases, the diagnosis remained unclassifiable due to co‐morbidities. Compared with cognitively stable individuals, participants with cognitive decline (n = 43) displayed higher DSQIID‐G total scores [median (range): 3 (0–21) vs. 19 (0–48), P < 0.001]. A total score of >7 provided a sensitivity of 0.94 against a specificity of 0.76, to discriminate DS‐AD and participants without cognitive decline according to ROC analysis. The convergent validity against the CAMDEX‐DS interview score was good (r = 0.74), and split‐half reliability (r = 0.96), internal consistency (Cronbach's α r = 0.96), test–retest reliability (r = 0.88) (n = 25) and interrater reliability (r = 0.81) (n = 31) were excellent. Conclusions: The DSQIID‐G showed excellent psychometric properties, including concurrent and internal validity and reliability. The cut‐off value for screening was lower than in the original English validation study. For a screening instrument like DSQIID‐G, a lower cut‐off is preferable to increase case detection. [ABSTRACT FROM AUTHOR]

Background: Genetic sonography following first-trimester combined screening appears to increase substantially detection rates for Down syndrome, but it relies on the unproved assumption of independence between these tests. Aim and Objective: To detect nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Method: This study was performed on pregnant women with a gestational age of 11 weeks and 13 weeks (6 days) at the department of radiology, VIMS, Gajraula, UP, India. Pregnant women undergone screening are followed up till delivery and assessment of congenital anomalies done. The subjects are followed up till the pregnancy outcome. The clinical assessment of the newborn baby was done to look for any congenital anomalies. The statistical analysis was done by using the chi-square test. p < 0.05 is considered to be significant. Results: An increase in NT is associated with congenital abnormalities. Increased NT is more likely to have anomalies compared with normal NT. Conclusion: Nuchal translucency is a strong predictor of congenital and chromosomal anomalies. [ABSTRACT FROM AUTHOR]

Perforating dermatoses are a heterogeneous group of disorders characterized by transepidermal elimination of materials from dermal connective tissue. It is classified into four primary dermatoses – Kyrle’s disease, perforating folliculitis, reactive perforating collagenosis (RPC), and elastosis perforans serpiginosa. It is known to be associated with various acquired and inherited systemic disorders. Here, we report a rare case of RPC in a 4-year-old Indian child with Down’s syndrome.

One of the rare disorders noted during birth is Annular pancreas. In this disorder a slender band of pancreatic tissue engulfs the duodenum. This congenital anomaly in children produces symptoms like duodenal obstruction but mostly they produce symptoms in later stages of life. This is one of the rare clinical diagnosis. But once diagnosed immediate treatment can reduce the morbidity risk.

Background: Studies investigating the quality of the diet and dietary intake of children with Down syndrome (DS) are required because the features attributed to the syndrome can affect growth, development and quality of life. Methods: This cross‐sectional study was conducted with 77 Brazilian children with DS between 5 and 36 months of age receiving care at the multidisciplinary outpatient clinic of the University Hospital. Participants' sociodemographic, dietary and anthropometric data were collected from the care protocols. Dietary data were collected from 24‐h recalls and dietary practices were assessed according to the WHO dietary guidelines. Associations between inadequate feeding practices and demographic variables were assessed using logistic regression models. Results: Fruits, milk or infant formula, vegetables, beans and meat were among the five most consumed foods by the children investigated. Overall, we observed a high number of cases of early weaning (50.6%), low minimum dietary diversity (MDD; 40.3%), inadequate consistency for age (64.9%), early presence of ultra‐processed foods (76.6%), sugars and sweets (33.8%) in the diet of the children with DS. In the associations of inadequate feeding practices by age group, low MDD [odds ratio (OR): 18.6; 95% confidence interval (CI): 3.4; 57.1] and inadequate consistency (OR: 6.65; 95% CI: 1.8; 24.7) were more frequent among children aged below 12 months while this relationship was inverse for early introduction of sugar and sweets (OR: 0.04; 95% CI: 0.01; 0.29). Conclusion: Our findings showed a high number of cases of inadequate dietary practices in children with DS investigated, which could adversely affect the long‐term health of this population. [ABSTRACT FROM AUTHOR]

OBJECTIVE: This study aims to explore perspectives on managing patients with Down's syndrome among orthodontists in Saudi Arabia using a vignette study and COM-B model. METHODS: This was a cross-sectional study for orthodontists working in Saudi Arabia. Participants were asked about their demographic data. Vignette (clinical scenarios) and COM-B model (C: capability, O: opportunity, M: motivation, and B: behavior) were used to assess orthodontists' perspectives regarding the management of patients with Down's syndrome. A model of Alpha (Cronbach) was used to study the properties of measurement scales. A Pearson's correlation coefficient was used to correlate variables represented by means. An independent t -test and one-way ANOVA, with least significant difference (LSD) as a post hoc test, were used to compare two group means and more than two groups, respectively. RESULTS: Most participants (n = 70, 85.4%) reported that they had no training/exposure to dealing with Down's syndrome patients during their orthodontic clinical training. Participants reported an average of 3.82 (SD = 1.1) when treating moderate Down's syndrome and 2.48 (SD = 1.4) when treating severe Down's syndrome with mild occlusion discrepancies. Participants also showed that their behavior and attitude are significantly related to their capability, opportunity, and motivation regarding the management of patients with Down's syndrome. The average reported agreement ranges from 2.46 (SD = 1) for the hypoplasia of the mandible to 4.38 (SD = 0.8) for the congenitally missing teeth. CONCLUSION: This study found that orthodontists in Saudi Arabia showed low confidence levels to manage Down's syndrome patients with moderate and severe challenging behavior. Despite this, the likelihood of increasing their confidence levels and attitude regarding the management of patients with Down's syndrome increased by increasing their capability, opportunity, motivation, and knowledge in this field. [ABSTRACT FROM AUTHOR]

Down's syndrome (DS), or Trisomy 21, represents the most common chromosomal abnormality in live births, characterized by an extra chromosome 21. Children affected by Down's syndrome are more susceptible to the development of obesity and of becoming overweight compared with other children. Furthermore, they seem to present a more unfavorable lipid profile than the non-DS obese pediatric population. Diet and physical activity are closely related to the development of overweight and obesity, and they can be assessed using questionnaires such as the Mediterranean Diet Quality Index in children and adolescents (KIDMED) and the Godin–Shephard Leisure-Time Physical Activity Questionnaire. This review aims to undertake a comprehensive analysis of the intricate interplay between diet and physical activity in children affected by Down's syndrome. Specifically, it seeks to deepen understanding regarding the question of how diet and exercise can influence and prevent the development of overweight and obesity in that special pediatric population. [ABSTRACT FROM AUTHOR]

Children with acute and chronic associated medical conditions often present for surgical and radiological procedures. An understanding of the implications of these conditions for anaesthesia is important for preventing perioperative adverse events. In this article, we outline the relevant clinical features of some of the commonly encountered associated medical conditions and provide guidance on the current evidence for the perioperative anaesthetic management of these children. [ABSTRACT FROM AUTHOR]

Copyright of Grafica: Journal of Graphic Design / Documents de Disseny Gràfic is the property of Universitat Autonoma de Barcelona and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: This study aims to establish the frequency of Down’s syndrome which will enhance the knowledge of our local population as well to understand our genotypic patterns and variations. Methods: Electronic Medical Records of inborn babies at the Department of Neonatology, Sheikh Saeed Memorial Campus of The Indus Hospital Karachi during the study period from 1st January 2021 to 31st December 2022 were retrieved. Chromosomal karyotyping was done for all babies with suspicious clinical features identified on routine new born examination by consultant neonatologists, trainee doctors and experienced nurses. Result: There was a total of 7,433 live births during the study period, out of which 14 babies had features suggestive of DS. repetition of sentence. What about karyotyping result?? Conclusion: The frequency of DS in our study is slightly higher than the incidence reported within South East Asia. It is high time to perform effective antenatal screening and efficient prenatal diagnostic services for early detection of chromosomal numerical aberration such as Down syndrome for better management of upcoming pregnancies. [ABSTRACT FROM AUTHOR]

Perforating dermatoses are a heterogeneous group of disorders characterized by transepidermal elimination of materials from dermal connective tissue. It is classified into four primary dermatoses – Kyrle's disease, perforating folliculitis, reactive perforating collagenosis (RPC), and elastosis perforans serpiginosa. It is known to be associated with various acquired and inherited systemic disorders. Here, we report a rare case of RPC in a 4-year-old Indian child with Down's syndrome. [ABSTRACT FROM AUTHOR]

Almost all individuals with Down's syndrome (DS) show the characteristic neuropathological features of Alzheimer's disease (AD) by the age of 40, yet not every individual with DS experiences symptoms of AD later in life. Similar to neurotypical developing subjects, AD in people with DS lasts for a long preclinical phase in which biomarkers follow a predictable order of changes. Hence, a prolonged asymptomatic period precedes the onset of dementia, underscoring the importance of identifying new biomarkers for the early detection and monitoring of cognitive decline in individuals with DS. Blood-based biomarkers may offer an alternative non-invasive strategy for the detection of peripheral biological alterations paralleling nervous system pathology in an early phase of the AD continuum. In the last few years, a strong neurobiological link has been demonstrated between the deficit of transforming growth factor-β1 (TGF-β1) levels, an anti-inflammatory cytokine endowed with neuroprotective activity, and early pro-inflammatory processes in the AD brain. In this clinical prospective observational study, we found significant lower plasma TGF-β1 concentrations at the first neuropsychological evaluation (baseline = T0) both in young adult DS individuals (19-35 years) and older DS subjects without AD (35-60 years) compared to age- and sex-matched healthy controls. Interestingly, we found that the lower TGF-β1 plasma concentrations at T0 were strongly correlated with the following cognitive decline at 12 months. In addition, in young individuals with DS, we found, for the first time, a negative correlation between low TGF-β1 concentrations and high TNF-α plasma concentrations, a pro-inflammatory cytokine that is known to be associated with cognitive impairment in DS individuals with AD. Finally, adopting an ex vivo approach, we found that TGF-β1 concentrations were reduced in parallel both in the plasma and in the peripheral blood mononuclear cells (PBMCs) of DS subjects, and interestingly, therapeutic concentrations of fluoxetine (FLX) applied to cultured PBMCs (1 µM for 24 h) were able to rescue TGF-β1 concentrations in the culture media from DS PBMCs, suggesting that FLX, a selective serotonin reuptake inhibitor (SSRI) endowed with neuroprotective activity, might rescue TGF-β1 concentrations in DS subjects at higher risk to develop cognitive decline. [ABSTRACT FROM AUTHOR]

Background: Down’s syndrome is an autosomal chromosomal disorder in humans and individuals with the condition are usually at a risk of various ocular conditions ranging from mild to moderate symptoms compared to those without Down’s syndrome. The purpose of this study was to evaluate the refractive status of children with Down’s syndrome between 5-18 years. Materials and methods: This cross sectional study assessed the refractive status of 50 children with Down’s syndrome from selected special need schools in Benin City, Edo State, Nigeria. The visual acuity assessed with the use of Lea symbol chart and non-cyclopegic refraction was performed with the streak retinoscope. Hyperopia, Myopia, Hyperopic astigmatism and Myopic astigmatism of 0.25D and above respectively were considered as significant refractive error. Results: A total of 50 children with Down’s syndrome were evaluated; 25 (50%) male and 25(50%) females with a mean age of 12.48 ± 3.028 years. Majority of the participants 45 (90%) had refractive error, with hyperopia being the most prevalent refractive error occurring in 40% (20) of the participants, followed by hyperopic astigmatism 30% (15), then myopia 12%(6) and lastly myopic astigmatism 8%(4) of the total participants. There was no significant relationship between gender and the different types of refractive errors. Conclusion: Hyperopia was the most common type of refractive error observed in this study. It is necessary that urgent and early eye care services are provided for children with Down’s syndrome in the hope of improving their quality of life.

Copyright of Revista Estudos Feministas is the property of Revista Estudos Feministas and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Down Syndrome (DS) is a common chromosomal disorder that is associated with multiple anomalies in different organ systems. Cardiac anomalies are frequently observed in individuals with DS, and as patients with Congenital Heart Disease (CHD) are at an increased risk of developing complications related to anaesthesia during the perioperative and postoperative periods, it is crucial to pay attention to the anaesthetic management of DS patients undergoing corrective surgery for cardiac anomalies. Complete Atrioventricular Septal Defects (CAVSD) are the most prevalent cardiac defects in DS patients, followed by isolated ventricular septal defects, atrial septal defects, patent ductus arteriosus, and tetralogy of Fallot. This case report focuses on the anaesthetic management of a one-year-old female with DS who was diagnosed with a combination of Atrioventricular Septal Defects (AVSDs) and patent ductus arteriosus. Due to the concurrent diagnosis of hypothyroidism, the case required a thorough preanaesthetic examination and meticulous attention to perioperative anaesthetic management, considering factors such as airway difficulty, cervical spine instability, ligament laxity, and susceptibility to infections. The patient underwent cardiac surgery following a standard anaesthetic protocol, and the procedure was well tolerated. After the surgery, she was transferred to the Intensive Care Unit (ICU). The postoperative period was uneventful, and the patient was discharged on the eighth postoperative day.

OBJECTIVE: This study aims to explore perspectives on managing patients with Down’s syndrome among orthodontists in Saudi Arabia using a vignette study and COM-B model. METHODS: This was a cross-sectional study for orthodontists working in Saudi Arabia. Participants were asked about their demographic data. Vignette (clinical scenarios) and COM-B model (C: capability, O: opportunity, M: motivation, and B: behavior) were used to assess orthodontists’ perspectives regarding the management of patients with Down’s syndrome. A model of Alpha (Cronbach) was used to study the properties of measurement scales. A Pearson’s correlation coefficient was used to correlate variables represented by means. An independent t-test and one-way ANOVA, with least significant difference (LSD) as a post hoc test, were used to compare two group means and more than two groups, respectively. RESULTS: Most participants (n = 70, 85.4%) reported that they had no training/exposure to dealing with Down’s syndrome patients during their orthodontic clinical training. Participants reported an average of 3.82 (SD = 1.1) when treating moderate Down’s syndrome and 2.48 (SD = 1.4) when treating severe Down’s syndrome with mild occlusion discrepancies. Participants also showed that their behavior and attitude are significantly related to their capability, opportunity, and motivation regarding the management of patients with Down’s syndrome. The average reported agreement ranges from 2.46 (SD = 1) for the hypoplasia of the mandible to 4.38 (SD = 0.8) for the congenitally missing teeth. CONCLUSION: This study found that orthodontists in Saudi Arabia showed low confidence levels to manage Down’s syndrome patients with moderate and severe challenging behavior. Despite this, the likelihood of increasing their confidence levels and attitude regarding the management of patients with Down’s syndrome increased by increasing their capability, opportunity, motivation, and knowledge in this field.

Down’s syndrome (DS), or Trisomy 21, represents the most common chromosomal abnormality in live births, characterized by an extra chromosome 21. Children affected by Down’s syndrome are more susceptible to the development of obesity and of becoming overweight compared with other children. Furthermore, they seem to present a more unfavorable lipid profile than the non-DS obese pediatric population. Diet and physical activity are closely related to the development of overweight and obesity, and they can be assessed using questionnaires such as the Mediterranean Diet Quality Index in children and adolescents (KIDMED) and the Godin–Shephard Leisure-Time Physical Activity Questionnaire. This review aims to undertake a comprehensive analysis of the intricate interplay between diet and physical activity in children affected by Down’s syndrome. Specifically, it seeks to deepen understanding regarding the question of how diet and exercise can influence and prevent the development of overweight and obesity in that special pediatric population.

Almost all individuals with Down’s syndrome (DS) show the characteristic neuropathological features of Alzheimer’s disease (AD) by the age of 40, yet not every individual with DS experiences symptoms of AD later in life. Similar to neurotypical developing subjects, AD in people with DS lasts for a long preclinical phase in which biomarkers follow a predictable order of changes. Hence, a prolonged asymptomatic period precedes the onset of dementia, underscoring the importance of identifying new biomarkers for the early detection and monitoring of cognitive decline in individuals with DS. Blood-based biomarkers may offer an alternative non-invasive strategy for the detection of peripheral biological alterations paralleling nervous system pathology in an early phase of the AD continuum. In the last few years, a strong neurobiological link has been demonstrated between the deficit of transforming growth factor-β1 (TGF-β1) levels, an anti-inflammatory cytokine endowed with neuroprotective activity, and early pro-inflammatory processes in the AD brain. In this clinical prospective observational study, we found significant lower plasma TGF-β1 concentrations at the first neuropsychological evaluation (baseline = T0) both in young adult DS individuals (19–35 years) and older DS subjects without AD (35–60 years) compared to age- and sex-matched healthy controls. Interestingly, we found that the lower TGF-β1 plasma concentrations at T0 were strongly correlated with the following cognitive decline at 12 months. In addition, in young individuals with DS, we found, for the first time, a negative correlation between low TGF-β1 concentrations and high TNF-α plasma concentrations, a pro-inflammatory cytokine that is known to be associated with cognitive impairment in DS individuals with AD. Finally, adopting an ex vivo approach, we found that TGF-β1 concentrations were reduced in parallel both in the plasma and in the peripheral blood mononuclear cells (PBMCs) of DS subjects, and interestingly, therapeutic concentrations of fluoxetine (FLX) applied to cultured PBMCs (1 µM for 24 h) were able to rescue TGF-β1 concentrations in the culture media from DS PBMCs, suggesting that FLX, a selective serotonin reuptake inhibitor (SSRI) endowed with neuroprotective activity, might rescue TGF-β1 concentrations in DS subjects at higher risk to develop cognitive decline.

BACKGROUND: Social isolation during the COVID-19 pandemic had a harmful impact on the psychological and physical health of children and teenagers. It is known that interruptions in rehabilitation can cause soft tissue contractures, bone deformities and a decline in motor functions among other complications. OBJECTIVE: The aim of this study was to compare the quality of life and physical activity levels of physically disabled children who continued and did not continue rehabilitation during the COVID-19 pandemic. METHOD: The gross motor levels of 18 children who continued special education and rehabilitation during the COVID-19 pandemic and 18 children who did not continue were determined with the Gross Motor Function Classification System (GMFCS). The International Physical Activity Questionnaire Short Form (IPAQ) and Children's Quality of Life Scale (PedsQL) questionnaires were administered. RESULTS: The study participants comprised 54.1% females and 45.9% males with a mean age of 9.02 years. No significant differences were detected between the two groups in respect of demographic, clinical and functional characteristics (p > 0.05). The walking parameters of PedsQL (p = 0.02) and IPAQ-SF scores (p = 0.03) were determined to be statistically significantly better in the group that continued rehabilitation. CONCLUSION: The results of this study demonstrated that the quality of life and walking capacity of children who continued rehabilitation during the COVID-19 pandemic were better. Methods should be developed to ensure that rehabilitation is not interrupted during isolation periods of any future pandemic. [ABSTRACT FROM AUTHOR]

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Inclusive education is a process in which schools devise curricula and plan resource allocation to include the diverse group of children in society. Although not many schools promote inclusive education at a school-wide level, there are some schools making efforts toward inclusion in Japan. This study aimed to understand the process of inclusion in a Japanese elementary school by using Trajectory Equifinality Modeling. We conducted a participant observation and focused on Naomi, who was 7 years old and had Down's syndrome. Naomi spent more than 80% of her time in the general education classroom, where she began to refuse to do tasks different from other children. In regard to this, the opinions of the homeroom teacher and the coordinator of these classes were completely different, but their opposing opinions were transformed into complementary ones using time differentiation, and they were able to continue to collaborate toward inclusive education. We found "transductive resolution" as a key to understanding the processes of striving for inclusive education. [ABSTRACT FROM AUTHOR]

Copyright of Iluminuras is the property of Revista Iluminuras and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Recent studies promote new interest in the intersectionality between autism spectrum disorder (ASD) and Alzheimer's Disease. We have reported high levels of Amyloid-β Precursor Protein (APP) and secreted APP-alpha (sAPPa) and low levels of amyloid-beta (Aβ) peptides 1-40 and 1-42 (Aβ40, Aβ42) in plasma and brain tissue from children with ASD. A higher incidence of microcephaly (head circumference less than the 3rd percentile) associates with ASD compared to head size in individuals with typical development. The role of Aβ peptides as contributors to acquired microcephaly in ASD is proposed. Aβ may lead to microcephaly via disruption of neurogenesis, elongation of the G1/S cell cycle, and arrested cell cycle promoting apoptosis. As the APP gene exists on Chromosome 21, excess Aβ peptides occur in Trisomy 21-T21 (Down's Syndrome). Microcephaly and some forms of ASD associate with T21, and therefore potential mechanisms underlying these associations will be examined in this review. Aβ peptides' role in other neurodevelopmental disorders that feature ASD and acquired microcephaly are reviewed, including dup 15q11.2-q13, Angelman and Rett syndrome. [ABSTRACT FROM AUTHOR]

The objective was to develop an Educational Technology on healthy eating for children with Down Syndrome. Methodological study carried out in three stages, starting with the narrative review of the literature and the situational diagnosis in theAPAE-Belém, with pparents or guardians of children with DS when participating in an interview. As a result, after the analysis procedure and interpretation of the findings, three categories were identified: healthy eating, children's eating and educational technology about healthy eating. In the second stage, pre-production took place and in the third stage, the final production of the board game prototype entitled "MI dish it, father of mare". As the study progressed, it was concluded that the production of TEs that are sensitive to the reality of these individuals enables the innovation of devices converging with their needs and demands,generating a positive effect in terms of knowledge related to healthy eating and health education. [ABSTRACT FROM AUTHOR]

Background: Some authors have estimated that the incidence of testicular germ cell tumors in individuals with trisomy 21 is more than fivefold higher than that in the general population. Objective: This systematic review aimed to estimate the incidence of urological tumors in patients with Down's syndrome. Study design: We conducted a search strategy in MEDLINE (OVID), EMBASE, LILACS, and the Cochrane Central Register of Controlled Trials (CENTRAL) from inception to nowadays. We assessed the risk of bias and performed a meta-analysis. Also, the heterogeneity between trials was evaluated by the I2 test. We completed the subgroup analysis based on the type of urological tumor (testis, bladder, kidney, upper urological tract, penile, retroperitoneum). Results: We found 350 studies by the search strategy. After carefully reviewing, full-text studies were included. 16,248 individuals with Down's syndrome were included, and 42 patients presented with urological tumors. There was a total incidence of 0.1%, 95%CI (0.06–0.19), I2 61%. The most common urological tumor reported was testicular. We found six studies describing 31 events and an overall incidence of 0.19%, 95%CI (0.11–0.33), I2: 51%. Other studies reported kidney, penile, upper urinary tract, bladder, and retroperitoneum tumors with a very low incidence, 0.02%, 0.06%, 0.03%, 0.11%and 0.07%, respectively. Discussion: Regarding non-testicular urological tumors, we found incidences as low as 0.02% in kidney cancer or 0.03% in the upper-urothelial tract tumors. It is also lower than the general population. Compared to the age of onset of patients, it is also lower than the general population, perhaps related to a shorter life expectancy. As a limitation, we found a high heterogeneity and a lack of information regarding non-testicular tumors. Conclusion: There was a very low incidence of urological tumors in people with Down's syndrome. Testis tumor was the most frequently described in all cohorts and within a normal distribution range. [ABSTRACT FROM AUTHOR]

Hematooncological diseases head the list in the structure of malignant neoplasms of childhood. Somatic mutations in tumor clone cells have been well studied, included in modern classifications, and are used to stratify patients into prognostic risk groups and select a therapy program. At the same time, more than 50 hereditary syndromes associated with the development of hemoblastoses have been described. Some of them (Down’s syndrome, Klinefelter’s syndrome, microdeletion syndromes et al.) are caused by chromosomal pathology, while others describe alterations of one or more genes with different types of inheritance and age of manifestation of hematooncological diseases. Genes of predisposition to hematooncological diseases are involved in the processes of DNA repair, regulation of the cell cycle, immune response and bone marrow function. This article presents current data on genetic syndromes associated with the development of hemoblastosis with a description of their own clinical observations.

Proposed fundamental laws of biology and a model of health and disease underscore the importance of the lymphatic system. The lymphatics are responsible for two of the laws of biology and the fulcrum of health and disease balancing regeneration with degeneration through the immune system. It is responsible for protection from the environment and repair of senile and damaged tissue. Life is constantly bombarded by forces that increase entropy. Lymphatics provide negative entropy to maintain health. Lymphatics help maintain cellular homeostasis removing products of metabolism. Using these principles, the role of lymphatics is investigated in salt sensitivity hypertension, cardio-renal system, the new pillar of heart failure and kidney disease—Sodium-Glucose Transport Protein 2 (SGLT2) Inhibitors, and brain diseases. The realization of organ lymphatics in maintenance of health and disease opens the avenue to new therapeutics. This is the unrealized potential of lymphatic study. [ABSTRACT FROM AUTHOR]

The subtitle to the conference upon which this journal issue is based invited us to 'follow Crowter'. This paper does so primarily by following the person and only thereby attends to the legal judgment. In particular, it will attend to her comment that When mum told me about the discrimination against babies like me in the womb, I felt like a knife had been put into my heart. It made me feel less valued than other people. The argument is that (I) there are strong reasons for such an approach from the field of theological ethics and that this is valuable for pastoral theology and for bioethics. With this case made, the argument proceeds (II) by following and building on three elements of Heidi Crowter's words concerning (a) the knife (b) the heart and (c) the person. The argument concludes (III) with theological reflection and deliberation regarding institutions, practices and actions which will make for 'ethical society', principally focussed on ecclesial life. [ABSTRACT FROM AUTHOR]

Objective: Dental treatment for Down's syndrome is often carried out under general anesthesia due to the difficulty of cooperation, excessive dental procedures, and accompanying systemic diseases. The risk of endocarditis can be avoided by maintaining good oral hygiene, preventing tooth decay and administering prophylactic antibiotics before some dental treatments. Material and Method: Down Syndrome patients underwent dental treatment under general anesthesia were evaluated retrospectively. General anesthesia method, demographic variables, ASA scores, Oral Hygiene Index, Frankl scale, Houpt Scale, systemic diseases of the patients, antibiotic prophylaxis and dental treatments were examined as data. Results: Female/male ratio was 62/51, mean age was 14.14±10.28. Most patients were ASA II with 67.3%. The oral hygiene index was poor (%38). While 84.81% of the patients were sedated, 15.2% were given general anesthesia. Tooth extraction with tooth filling was the most performed dental treatment. The most common systemic disease was of cardiac origin. Antibiotic prophylaxis was administered to 82 of the patients. Conclusion: To treat patients with Down Syndrome, frequent use of general anesthesia and sedation, as well as frequent antibiotic prophylaxis, is required. In terms of these applications, it is necessary to create a treatment plan with the least risk to the patient. [ABSTRACT FROM AUTHOR]

Obstructive Sleep Apnoea (OSA) is common in children with Down Syndrome (DS). Adenotonsillectomy is regarded as first line treatment for OSA but does not always lead to resolution of symptoms in this group of children. Management of residual OSA is variable with no existing recommendations to guide clinical practice. To describe the experience of a large tertiary sleep service in managing residual OSA in children with DS following upper airway surgery (adenotonsillectomy, adenoidectomy or tonsillectomy). A retrospective study of children who were under evaluation at the Queensland Children's Hospital sleep medicine department between October 2013 to April 2022 for residual OSA, after upper airway surgery was undertaken. 148 children with DS who underwent polysomnography for evaluation of OSA were identified. 100 were included in this study and of these, 77 underwent adenotonsillectomy, 19 adenoidectomy, and 4 tonsillectomy. Post-surgical PSG data of all 100 children showed residual mixed sleep disordered breathing in 68 children. 41 were recommended CPAP following surgery, while 21 underwent further surgery. Residual OSA was confirmed to be highly prevalent in children with DS who had already undergone upper airway surgery for OSA. This study identified that CPAP is possible to establish in most children with DS and can be used to manage residual OSA in this population. Approximately one-third of this group were able to discontinue therapy at a median duration of 18 months, suggesting resolution of disease with time can occur in some children. • Improvement in OSA severity post-initial surgery seen in 62% of children. • Residual moderate-severe OSA seen following surgical management in 33% of children. • 82.9% of children initiated on CPAP therapy were able to sustain it for >12 months. • 31.7% of children commenced on CPAP were able to cease after 15 months. [ABSTRACT FROM AUTHOR]

Background: Apolipoprotein E (APOE) is a form of polymorphic protein located on the long arm of chromosome 19 at position 13.2 (19q13.2), translated into three alleles of the gene, namely normal allele 3 and dysfunctional allele 2 and 4. Patients with Down's Syndrome Trisomy 21 may have different allele frequencies and combinations of APOE gene genotypes with controls, which can result in decreased cognitive function and inhibition of bone growth. This study aims to analyze the relationship of the Apolipoprotein E Gene Allele with the height of patients with Down Syndrome Trisomy 21. Methods: This research is a cross sectional study with a comparative cross-sectional study design. Results: The sample used was the result of DNA extraction of patients with Down's Syndrome Trisomy 21 as many as 33 samples and 33 controls stored in the Biomedical Laboratory, Faculty of Medicine, Andalas University, Padang, Indonesia. The next step is to examine the APOE gene polymorphisms using PCR and sequencing techniques. The results showed that there was a significant relationship between the APOE gene allele and height (p=0.009). Conclusion: This study concluded that there was a significant relationship between the APOE gene allele and the height of patients with Down Syndrome Trisomy 21. [ABSTRACT FROM AUTHOR]

Down Syndrome (DS) is a common chromosomal disorder that is associated with multiple anomalies in different organ systems. Cardiac anomalies are frequently observed in individuals with DS, and as patients with Congenital Heart Disease (CHD) are at an increased risk of developing complications related to anaesthesia during the perioperative and postoperative periods, it is crucial to pay attention to the anaesthetic management of DS patients undergoing corrective surgery for cardiac anomalies. Complete Atrioventricular Septal Defects (CAVSD) are the most prevalent cardiac defects in DS patients, followed by isolated ventricular septal defects, atrial septal defects, patent ductus arteriosus, and tetralogy of Fallot. This case report focuses on the anaesthetic management of a one-year-old female with DS who was diagnosed with a combination of Atrioventricular Septal Defects (AVSDs) and patent ductus arteriosus. Due to the concurrent diagnosis of hypothyroidism, the case required a thorough preanaesthetic examination and meticulous attention to perioperative anaesthetic management, considering factors such as airway difficulty, cervical spine instability, ligament laxity, and susceptibility to infections. The patient underwent cardiac surgery following a standard anaesthetic protocol, and the procedure was well tolerated. After the surgery, she was transferred to the Intensive Care Unit (ICU). The postoperative period was uneventful, and the patient was discharged on the eighth postoperative day. [ABSTRACT FROM AUTHOR]

Background: Down syndrome (DS) is caused by an extra copy of all or part of chromosome 21. The patients with DS develop typical Alzheimer's disease (AD) neuropathology, indicating the role of genes on human chromosome 21 (HSA21) in the pathogenesis of AD. Purkinje cell protein 4 (PCP4), also known as brain-specific protein 19, is a critical gene located on HSA21. However, the role of PCP4 in DS and AD pathogenesis is not clear. Objective: To explore the role of PCP4 in amyloid-β protein precursor (AβPP) processing in AD. Methods: In this study, we investigated the role of PCP4 in AD progression in vitro and in vivo. In vitro experiments, we overexpressed PCP4 in human Swedish mutant AβPP stable expression or neural cell lines. In vitro experiments, APP23/PS45 double transgenic mice were selected and treated with AAV-PCP4. Multiple topics were detected by western blot, RT-PCR, immunohistochemical and behavioral test. Results: We found that PCP4 expression was altered in AD. PCP4 was overexpressed in APP23/PS45 transgenic mice and PCP4 affected the processing of AβPP. The production of amyloid-β protein (Aβ) was also promoted by PCP4. The upregulation of endogenous AβPP expression and the downregulation of ADAM10 were due to the transcriptional regulation of PCP4. In addition, PCP4 increased Aβ deposition and neural plaque formation in the brain, and exuberated learning and memory impairment in transgenic AD model mice. Conclusion: Our finding reveals that PCP4 contributes to the pathogenesis of AD by affecting AβPP processing and suggests PCP4 as a novel therapeutic target for AD by targeting Aβ pathology. [ABSTRACT FROM AUTHOR]

There is little scientific literature on the burden of caregivers of people with Down Syndrome (DS), which refers to attitudes and emotional reactions to the experience of caring and the life of caregivers concerning the variables that play a modulating role of charge, as in the case of positive affects. Objective. To analyze the relationship between care characteristics and positive and negative effects on the burden in informal primary caregivers of DS who attend educational institutions in Guadalajara, Jalisco. Method. The sample consisted of 18 informal primary caregivers; the study applied the Zarit Caregiver Burden Scale and the Positivity Self-test. The majority of the participants are women, married, with studies at the bachelor's level, who, in addition to care work, have a formal job and present a slight burden. Results. A positive correlation resulted between the total burden and the negative emotional experience and perception; in addition, the years as a caregiver correlated positively with the impact of care and expectations of self-efficacy. Discussion. This study highlights the need for early interventions in caregivers of people with Down syndrome that promote positive affect and reduce the burden. [ABSTRACT FROM AUTHOR]

Abstract Background Down’s syndrome is the most common chromosomal abnormality in humans. It has been associated with central nervous system tumors such as primary acute lymphoblastic leukemia and germinomas, but desmoplastic infantile astrocytoma has not yet been reported with Down’s syndrome. Desmoplastic infantile astrocytoma is a rare intracranial tumor that mostly occurs in the first 2 years of life. It usually presents as a large, aggressive tumor with both solid and cystic components. Genetically, it has been linked to the BRAF V600E mutation. Despite the rapid growth pattern, it usually has a favorable prognosis after neurosurgical excision. The presence of this extremely rare, genetically linked tumor, and its combination with Down’s syndrome, the most common human genetic defect, makes this a very novel clinical presentation. It also raises a very research-worthy question of an undiscovered link between these two genetic disorders. Case presentation In this case, we report a 1-year-old Pakistani origin male child with Down’s syndrome, who presented with progressive macrocephaly and developmental regression over the last 2 months. He was unable to sit by himself, and had lost his handgrip bilaterally. Down’s Syndrome was diagnosed soon after birth, based on typical facial features and presence of palmar crease, and later confirmed karyotypically for Trisomy 21. Upon presentation, initial blood tests did not show any abnormality. Magnetic resonance imaging of the brain was done, and showed a mixed intensity cystic mass with solid dural component posteriorly in the right parieto temporo occipital region. Craniotomy was performed, and about 85% of the tumor mass was excised. Histological examination and immunochemistry confirmed the suspected radiological diagnosis of desmoplastic infantile astrocytoma. After surgical excision, our patient gradually reacquired his previously regressed developmental milestones. Unfortunately, the remaining mass, which could not be excised due to its attachment to the highly vascular dura mater, showed regrowth on repeat brain magnetic resonance imaging. As his parents did not consent to further surgery, chemotherapy was offered as the next treatment option to prevent tumor regrowth. Conclusions This case report highlights the need for more case data and research to understand desmoplastic infantile astrocytoma, and their genetic correlation with Down’s syndrome. From a clinical standpoint, since desmoplastic infantile astrocytoma has a good postresection prognosis in a majority of early-diagnosed clinical cases, pediatricians, radiologists, and pathologists should consider desmoplastic infantile astrocytoma in their initial differential diagnosis in Down’s syndrome patients with macrocephaly and developmental regression during the first 2 years of life.

Recent studies promote new interest in the intersectionality between autism spectrum disorder (ASD) and Alzheimer’s Disease. We have reported high levels of Amyloid-β Precursor Protein (APP) and secreted APP-alpha (sAPPa) and low levels of amyloid-beta (Aβ) peptides 1–40 and 1–42 (Aβ40, Aβ42) in plasma and brain tissue from children with ASD. A higher incidence of microcephaly (head circumference less than the 3rd percentile) associates with ASD compared to head size in individuals with typical development. The role of Aβ peptides as contributors to acquired microcephaly in ASD is proposed. Aβ may lead to microcephaly via disruption of neurogenesis, elongation of the G1/S cell cycle, and arrested cell cycle promoting apoptosis. As the APP gene exists on Chromosome 21, excess Aβ peptides occur in Trisomy 21-T21 (Down’s Syndrome). Microcephaly and some forms of ASD associate with T21, and therefore potential mechanisms underlying these associations will be examined in this review. Aβ peptides’ role in other neurodevelopmental disorders that feature ASD and acquired microcephaly are reviewed, including dup 15q11.2-q13, Angelman and Rett syndrome.