GGTs should be considered by morphology as a differential diagnosis of gastric NET on cytology biopsy, especially if there is focal synaptophysin reactivity. Additional staining for SMA and BRAF, if ...

Neurological examination showed diffuse hypotonia and a weak cry. The differential diagnosis included Down syndrome and SMA, so both the karyotype and the neuromuscular gene panel was performed. The G ...

The SI appears less useful for the diagnosis of HD due to a poor specificity having a poor specific when it exceeds 5.2 (34%).6 15 16 Additionally, the reverse split-hand has also been reported with ...

The findings from these studies could inform the early diagnosis, prediction of prognosis and implementation ... carcinoma and transcriptomics and proteomics data from a spinal muscular atrophy (SMA) ...

The availability of OAV101 IT would be most beneficial to patients where NBS for SMA is not yet adopted in their country and/or patients who received a delayed diagnosis.” KOLs added that OAV101 ...

Seeking urgent Union government intervention to overcome the lack of affordable access to medicines for treating Spinal Muscular Atrophy (SMA) and the need to allow local manufacturers to make ...

Back to Healio Topline results from a phase 3 clinical trial showed an investigational gene therapy for young people with spinal muscular atrophy type 2 increased mobility and slowed disease ...

The recommendation covers children with 5q SMA with a bi-allelic mutation in the SMN1 gene and a clinical diagnosis of SMA type 1; or patients with 5q SMA with a bi-allelic mutation in SMN1 and up ...

Anatomical reference points were selected to form a triangle, which provides the discriminative power to restrict the differential diagnosis and form the basis of ensuing investigation. This paper ...

The diagnosis of the so-called “disease X” in the Democratic Republic of the Congo is “leaning more toward malaria,” an official from the Africa Centers for Disease Control and Prevention ...

Women are missing out on crucial cardiac diagnoses due to outdated guidelines aimed at men, a study suggests. Research by the British Heart Foundation found current techniques for checking for ...