Ultrasound quantitative assessment of ventral finger microvasculopathy in systemic sclerosis with Raynaud's phenomena: a comparative study.

OBJECTIVE: To assess the finger vascularity of systemic sclerosis patients with Raynaud's phenomenon (RP-SSc) using various ultrasound techniques. METHODS: All fingers (except thumbs) of 18 RP-SSc patients and 18 controls were imaged at room temperature using four ultrasound vascular imaging techniques. The percent vascular area was quantified by counting blood flow pixels in a 25 mm2 square centred at the nail fold for the dorsal side and in 25 mm2 and 100 mm2 square from the fingertip for the ventral side. The mean vascular intensity was calculated from the corresponding areas for dorsal and ventral sides. RESULTS: The percent vascular areas and mean vascular intensities in RP-SSc were significantly lower than those in controls for both dorsal and ventral sides (p<0.01). The mean vascular intensities showed slightly higher area under the curve (AUC) than the percent vascular areas (0.53-0.91 vs 0.53-0.90) regardless of imaging technique and assessment side. For each imaging technique, the ventral side vascularity showed a higher AUC (0.74-0.91) compared with the dorsal side (0.53-0.81). Moreover, ventral side abnormalities were associated with a history of digital ulcers. CONCLUSIONS: Ultrasound demonstrated potential to quantify finger vascularity of RP-SSc. The ventral side of the fingers showed a higher accuracy in detecting RP-SSc than the dorsal side.

The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.

An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal complications. Around 4 to 5 months of age, the patient's mother initially became concerned as he was experiencing signs of developmental delay and a mild floppy tone, in addition to facial features that resembled some form of mental retardation. The patient's older brother also experienced similar developmental symptoms and facial features that presented around the same age period as our patient. It was initially thought to be Down syndrome; however, both the patient and his brother tested negative for Down syndrome on chromosomal analyses. There was also a question of whether the patient had some form of autism spectrum disorder, but doctors were unable to specifically confirm this. Now at the age of 18 years, the patient has no understandable speech with distinctive facial features such as a broad nasal bridge and prominent epicanthic folds, lissencephaly, smaller than average head size, intellectual disability, and hearing loss. It was discovered, through trio-based exome sequencing, that the patient had a de novo missense mutation (p.Ser155Phe) in the ACTG1 gene, which has been linked to the rare syndrome known as Baraister-Winter syndrome type 2. Baraitser-Winter syndrome 2 is a unique variant that is clinically similar to Baraitser-Winter syndrome type 1; however, only seven previous cases have been reported.