Medicine
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Allan-Herndon-Dudley syndrome (AHDS) results from a pathogenic variant in the hemizygous subunit of the SLC16A2 gene, which encodes monocarboxylate transporter 8 and follows an X-linked recessive pattern. AHDS manifests as neuropsychomotor developmental delay, intellectual disability, movement disorders, and thyroid hormone abnormalities. It is frequently misdiagnosed as cerebral palsy or hypothyroidism. ⋯ AHDS should be considered in patients presenting with atypical neurological features and thyroid hormone abnormalities such as elevated triiodothyronine and decreased thyroxine levels. The early utilization of exome sequencing aids in prompt diagnosis. The identified SLC16A2 nonsense mutation correlates with severe neurological phenotypes and adds to the spectrum of genetic variations associated with AHDS.
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Autosomal recessive bestrophinopathy (ARB) is a subtype of bestrophinopathy caused by biallelic mutations of the BEST1 gene, which affect the retinal pigment epithelium (RPE). Studying RPE abnormalities through imaging is essential for understanding ARB. This case series involved the use of multimodal imaging techniques, namely autofluorescence (AF) imaging at 488 nm [short-wavelength AF] and 785 nm [near-infrared AF (NIR-AF)] and polarization-sensitive optical coherence tomography (PS-OCT), to investigate RPE changes in 2 siblings with ARB. ⋯ We confirmed RPE abnormalities in ARB, including diffuse RPE melanin damage in the macula alongside evidence of RPE activity-related changes. This case series demonstrates that multimodal imaging, particularly NIR-AF and PS-OCT, provides detailed insights into RPE alterations in ARB.
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Depression is a common comorbidity in children and adolescents with type 1 diabetes mellitus (T1DM), yet its prevalence, impact, and intervention strategies remain underexplored. This study aims to assess the prevalence of depression among children and adolescents with T1DM, investigate its impact on health outcomes, and explore potential intervention strategies. A convenient sampling method was employed to recruit 229 participants aged 6 to 18 years from a single center. ⋯ Associations were found between depression and diabetes management factors, including glycemic control and frequency of glucose monitoring. Depression is highly prevalent among children and adolescents with T1DM and is associated with sociodemographic factors, health behaviors, and diabetes management. Integrated approaches to care that address both physical and mental health aspects are crucial for improving outcomes in this population.
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The prevalence of obesity and hypertension is increasing, particularly in the urban areas. However, there is limited research on the relationship between obesity and hypertension in the rural areas of southeastern Nigeria. The present study aimed to investigate the association between anthropometric parameters and adiposity indicators and the risk of hypertension with obesity-related conditions, based on a descriptive study of people living in the southeastern rural areas of Nigeria. ⋯ This study highlights the importance of considering a range of anthropometric measurements and health parameters when assessing health risks and identifying potential interventions. In addition, the body shape index may be a particularly useful tool for predicting health risks in both men and women. In contrast, correlations between various health parameters can provide insights into the underlying mechanisms and risk factors.
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Tumor deposits (TDs) are defined as discontinuous neoplastic masses within the lymphatic drainage pathway of the primary tumor. The poor prognostic implication of these masses have been demonstrated in various cancers. The aim of this study is to investigate the incidence of TDs in our thyroid carcinoma cases, which has not been studied so far to the best of our knowledge, and to determine the prognostic value of their existence. ⋯ In TPC cases individually, extrathyroidal extension (P = .001) and TDs (P = .002) were significantly correlated with distant metastasis. In multivariate analysis, only tumor size was detected as an independent prognostic marker in TPC cases (P = .005). Our results demonstrate the existence of TDs in thyroid carcinoma cases, and indicate a more aggressive behavior pattern of TDs in these tumors.