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1.
Cureus ; 16(6): e61841, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38975490

ABSTRACT

Ensuring access to proper eye health services is not only a fundamental human right but also crucial for preserving an individual's quality of life, preventing blindness, and promoting overall well-being. This is especially true in low-income countries like Sub-Saharan Africa (SSA) where recognizing the intricate relationship between access to healthcare and social determinants of health (SDOH ) is crucial to addressing health disparities. The goal of this study was to elucidate and highlight not only the barriers millions face in obtaining eye care but also pave the way for interventions and policies aimed at creating equitable access across diverse populations. To do this, a scoping review was conducted across the Cumulated Index to Nursing and Allied Health Literature (CINAHL), Embase, and PubMed databases for studies meeting the search terms and inclusion criteria. The results show that intervention strategies that increase vision care must extend beyond the healthcare sector to address the multifaceted challenges. Collaborating with stakeholders involved in addressing broader livelihood issues, such as food security, education, and SDOH, becomes imperative to ensure comprehensive and sustainable improvements in vision care accessibility in SSA.

2.
J Pediatr Genet ; 13(2): 158-165, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38721578

ABSTRACT

Transient receptor potential vanilloid 4 channel ( TRPV4 ) gene mutations have been described in skeletal system and peripheral nervous system pathology. The case described here is a 9-year-old male child patient, born to a nonconsanguineous marriage with normal birth history who had difficulty in walking and stiffness of joints for the last 7 years, and progressive weakness of all four limbs and urine incontinence for 1 year following falls. Physical examination showed below-average weight and height and short trunk. Musculoskeletal examination revealed bony prominence bilaterally in the knee joints and contractures in knee and elbow joints with brachydactyly; muscle tone was increased, with brisk deep tendon reflexes. Skeletal survey showed platyspondyly with anterior beaking with metaphyseal dysplasia. Magnetic resonance imaging of the spine revealed atlantoaxial instability with hyperintense signal changes at a cervicomedullary junction and upper cervical cord with thinning and spinal canal stenosis suggestive of compressive myelopathy with platyspondyly and anterior beaking of the spine at cervical, thoracic and lumbar vertebrae. Exome sequencing revealed a heterozygous de novo variant c.2389G > A in exon 15 of TRPV4 , which results in the amino acid substitution p.Glu797Lys in the encoded protein. The characteristics observed indicated spondylometaphyseal dysplasia, Kozlowski type (SMD-K). The child underwent surgical intervention for compressive myelopathy by reduction of atlantoaxial dislocation with C1 lateral mass and C2 pars fusion using rib graft and fixation using screws and rods. To conclude, for any child presenting with progressive kyphoscoliosis, short stature, platyspondyly, and metaphyseal changes, a diagnosis of SMD-K should be considered and the patient and family should be advised to avoid spinal injuries.

3.
Cureus ; 15(10): e47747, 2023 Oct.
Article in English | MEDLINE | ID: mdl-38021979

ABSTRACT

Capnocytophaga canimorsus infection is frequently associated with dog and cat bites or scratches in patients who have risk factors such as immunosuppression, asplenia, and alcohol abuse. However, rare instances of C. canimorsus infection in patients without typical risk factors have been reported. Here, we present such a rare and unusual case of C. canimorsus bacteremia in a patient without animal wounds or risk factors. Chronic sinusitis may have contributed to mucosal disruption and served as an entry point for C. canimorsus. Prompt initiation of antibiotics resulted in rapid resolution of symptoms and clearance of bacteremia.

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