Down's syndrome

Mild cognitive impairment (MCI) is a neuropsychological syndrome that is characterized by cognitive impairments. It typically affects adults 60 years of age and older. It is a noticeable decline in the cognitive function of the patient, and if left untreated it gets converted to Alzheimer's disease (AD). For that reason, early diagnosis of MCI is important as it slows down the conversion of the disease to AD. Early and accurate diagnosis of MCI requires recognition of the clinical characteristics of the disease, extensive testing, and long-term observations...

Proper treatment of developmental disabilities requires health workers to have adequate knowledge of etiology and referral procedures. There is a dearth of research on knowledge of developmental disabilities among health workers in Ghana. The purpose of this study was to document knowledge about developmental disorders, causes, and referral procedures among health workers. Researchers used a successive free-listing method to interview 37 health workers. Developmental disabilities which present with physical symptoms were the most salient disorders identified among health workers, while learning disabilities and attention deficit disorder were largely overlooked...

Infants with Down syndrome are more likely to experience feeding problems and mothers are likely to require more feeding support than mothers of typically developing infants. During the COVID-19 pandemic, many feeding support services changed from face-to-face to online, which impacted some maternal feeding experiences negatively, but no studies to date have explored the impact for mothers of infants with Down syndrome. Thematic analysis was conducted on semi-structured interviews from thirteen new mothers of infants (aged 8-17 months) with Down syndrome in the UK...

Introduction: This article reports the physical abilities and physical wellness of three groups of children with different neurodevelopmental disabilities: Autism, Down Syndrome and Intellectual Disability. Methods: The causal-comparative research method was implemented in this study. The participants comprised 32 students with moderate intellectual disabilities, 18 with autism spectrum disorder, and 22 with down syndrome. The body mass index (BMI), flexibility, standing long jump, sitting height, stroke length, and medicine ball throwing levels were measured for physical fitness, and the groups were compared afterward...

The diagnosis of pathological conditions of the parathyroid glands is the answer to clinically more frequently detected hypercalcemic conditions, including MEN syndromes. In routine biopsy practice, enlarged bodies are also a differential diagnosis for the diagnosis of thyroid nodules. In the chapter of parathyroid tumors, the 5th edition of the WHO classification brings changes influenced similarly to other endocrine organs by the increase in genetic information. At the terminological level, the concept of hyperplasia has been narrowed down to secondary hyperplasia, most of the previously primary hyperplasias are referred to as multiglandular parathyroid disease due to evidence of multiglandular clonal proliferations...

ETHNOPHARMACOLOGICAL RELEVANCE: Polycystic ovary syndrome (PCOS) is a common endocrine disorder associated with reproductive dysfunction and metabolic abnormalities, particularly characterized by insulin resistance and chronic low-grade inflammation. Multiple clinical studies have clearly demonstrated the significant efficacy and safety of the combination of Bailing capsules (BL) in the treatment of PCOS, but its pharmacological effects and mechanisms still require further study. AIM OF THE STUDY: To evaluate the effect of BL on improving PCOS in mice and explore the mechanism...

INTRODUCTION: Trisomy 21 (T21), which causes Down syndrome (DS), is the most common chromosomal aneuploidy in humankind and includes different clinical comorbidities, among which the alteration of the immune system has a heavy impact on patient's lives. A molecule with an important role in immune response is zinc and it is known that its concentration is significantly lower in children with T21. Different hypotheses were made about this metabolic alteration and one of the reasons might be the overexpression of superoxide dismutase 1 ( SOD1 ) gene, as zinc is part of the SOD1 active enzymatic center...

BACKGROUND: Alpha-fetoprotein (AFP) is a fetal protein that can indicate congenital anomalies such as Down syndrome and spinal canal blockage when detected at abnormal levels in pregnant women. Current AFP detection methods rely on invasive blood or serum samples, which require sophisticated equipment. From the many solutions proposed, colorimetric paper-based assays excel in point-of-care settings. The concept of paper-based ELISA (p-ELISA) enhances traditional methods, aligning with the ASSURED criteria for diagnostics in resource-limited regions...

BACKGROUND: Infantile nystagmus syndrome can be associated with an afferent problem (anterior or posterior segment) or constitute an isolated idiopathic disorder. With a normal ophthalmic examination, current guidelines recommend electroretinography (ERG) rather than magnetic resonance (MRI) for preliminary workup. Given the limited use of optical coherence tomography (OCT) in preverbal children, the purpose of this study was to evaluate the role of handheld OCT (HH-OCT) in the initial diagnostic evaluation of infantile nystagmus...

Transient abnormal myelopoiesis (TAM) occurs in 10% of neonates with Down syndrome (DS). Although most patients show spontaneous resolution of TAM, early death occurs in approximately 20% of cases. Therefore, new biomarkers are needed to predict early death and determine therapeutic interventions. This study aimed to determine the association between clinical characteristics and cytokine levels in patients with TAM. A total of 128 patients with DS with TAM enrolled in the TAM-10 study conducted by the Japanese Pediatric Leukemia/Lymphoma Study Group were included in this study...

BACKGROUND AND PURPOSE: Current pharmacotherapies for Tourette syndrome (TS) are often unsatisfactory and poorly tolerated, underscoring the need for novel treatments. Insufficient striatal acetylcholine has been suggested to contribute to tic ontogeny. Thus, we tested whether activating M1 and/or M4 receptors-the two most abundant muscarinic receptors in the striatum-reduced tic-related behaviours in mouse models of TS. EXPERIMENTAL APPROACH: Studies were conducted using CIN-d and D1CT-7 mice, two TS models characterized by early-life depletion of striatal cholinergic interneurons and cortical neuropotentiation, respectively...

INTRODUCTION AND IMPORTANCE: Lusory dysphagia (LD) is a rare disorder resulting from extrinsic vascular compression of the esophagus, is often associated with an aberrant right subclavian artery (ARSA). LD is characterized by abnormal development of the right fourth aortic arch during embryonic stages, leading to posterior coursing of the artery in 80 % of cases. Predominantly presenting as dysphagia, LD can occasionally manifest with laryngeal stridor or dyspnea, yet it often remains asymptomatic and incidentally discovered...

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BACKGROUND: People with intellectual disabilities (ID) face barriers in cancer care contributing to poorer oncological outcomes. Yet, understanding cancer risks in the ID population remains incomplete. AIM: To provide an overview of cancer incidence and cancer risk assessments in the entire ID population as well as within ID-related disorders. METHODS: This systematic review examined cancer risk in the entire ID population and ID-related disorders...

OBJECTIVE: To analyze the clinical phenotype and genetic basis of a Chinese pedigree affected with Otopalatodigital syndrome type 1 (OPD1). METHODS: A pedigree which was evaluated at the Department of Endocrinology, General Hospital of the Central Theater Command on December 3, 2020 was selected as the study subject. Clinical phenotype and genetic features of the proband were analyzed. Whole exome sequencing was employed to screen for genetic variants in the proband, and Sanger sequencing was used to verify the candidate variants in the proband's mother, uncle, maternal aunt, and paternal aunt...

Subcutaneous emphysema, the presence of air in the subcutaneous layer of the skin, is a possible result of surgical, infectious, or spontaneous etiologies. Although usually self-limiting, the development of subcutaneous emphysema in the perioperative period has been associated with delayed extubation and the development of complications such as pneumomediastinum, pneumoperitoneum, and pneumothorax and can worsen clinical outcomes in these patients. Here, we report the case of a 57-year-old male patient who presented to the operating room (OR) for a robotic total colectomy due to Lynch syndrome...

BACKGROUND: Predisposing factors for otitis media with effusion are multifactorial, ranging from genetic and anatomical abnormalities to environmental factors and inflammation of the nose and adjacent structures. AIM: The study determined the risk factors for otitis media with effusion (OME) among children in Calabar Municipality. METHODS: This was a descriptive, cross-sectional, community-based study including children aged 1-10 years randomly selected from government and privately owned daycares, nurseries (preschool), and primary schools...

PURPOSE: The purpose of this study was to compare antipsychotic use by youth with intellectual/developmental disabilities to youth without IDD as they transitioned from pediatric to adult health care services. In addition, antipsychotic use was compared between youth with different types of IDD (autism, Fetal Alcohol Syndrome, Down syndrome and 'other'). METHODS: Population level administrative health data was used to compare the dispensing of antipsychotics for youth aged 15 to 24 years with and without IDD, between 2010 and 2019...

BACKGROUND: Obesity drives maladaptive changes in the white adipose tissue (WAT) which can progressively cause insulin resistance, type 2 diabetes mellitus (T2DM) and metabolic dysfunction-associated liver disease (MASLD). Obesity-mediated loss of WAT homeostasis can trigger liver steatosis through dysregulated lipid pathways such as those related to polyunsaturated fatty acid (PUFA)-derived oxylipins. However, the exact relationship between oxylipins and metabolic syndrome remains elusive and cross-tissue dynamics of oxylipins are ill-defined...

OBJECTIVES: Down syndrome (DS) is associated with airway abnormalities including a narrowed trachea. It is uncertain whether this narrowed trachea in DS is a consequence of deviant fetal development or an acquired disorder following endotracheal intubation after birth. This study aimed to compare the tracheal morphology in DS and non-DS fetuses using microfocus computed tomography (micro-CT). METHODS: Twenty fetal samples were obtained from the Dutch Fetal Biobank and divided into groups based on gestational age...