Background: Speech-language pathologists (SLPs) in non-English speaking countries face challenges when assessing children for speech sound disorders (SSD). Exploring their clinical challenges in service delivery-along with their problem-solving approaches-may contribute to the development of instruments for clinical use in such settings.
Aim: The study aimed to explore assessment methods used by Iranian SLPs to identify children with SSD.
Thiamine-responsive megaloblastic anaemia (TRMA) is a rare autosomal recessive disorder characterised by the clinical triad of megaloblastic anaemia, sensorineural hearing loss and diabetes mellitus (DM) in young patients. We present a case of a young man with type 1 DM who presented with pancytopenia of unclear aetiology, initially attributed to a COVID-19 infection. After obtaining a bone marrow biopsy and pursuing genetic testing, two pathogenic variants of the SLC19A2 gene consistent with TRMA were discovered in this patient.
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