Medicine
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Case Reports
Total management of hemangiopericytoma/solitary fibrous tumor of the buttock: A case report.
Solitary fibrous tumors can manifest at various anatomical sites, predominantly occurring at extrapleural sites with a peak incidence between 40 and 70 years. SFT necessitates long-term follow-up owing to its tumor characteristics. However, comprehensive reports covering the period from initial diagnosis to the patient's demise are lacking. Herein, we present a case of a malignant SFT of the buttocks that was treated at our hospital from the time of initial diagnosis to the end of life, with a literature review. ⋯ Long-term monitoring for potential complications remains necessary.
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Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening systemic inflammatory syndrome characterized by an overactive immune response. This hyperactivation can arise from genetic mutations, infections, malignancies, or autoimmune disorders. Medication-induced HLH is extremely rare and requires special attention. ⋯ Early correct diagnosis and appropriate management of HLH are essential to save the lives of affected patients. The potential severe side effects of rifampin should not be ignored.
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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.