Yanick Crow and colleagues report that biallelic mutations in SNORD118, which encodes the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. The mutations affect U8 expression, processing and protein binding and suggest a role for this snoRNA in cerebral vascular homeostasis. Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein-coding RNAs involved in ribosome biogenesis. Here we show that biallelic mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (LCC), presenting at any age from early childhood to late adulthood. These mutations affect U8 expression, processing and protein binding and thus implicate U8 as essential in cerebral vascular homeostasis.

Pain is traumatic for preterm infants and can damage their CNS. We wanted to assess whether multisensorial stimulation can be analgesic and whether this effect is only due to oral glucose or sucking. We performed a randomized prospective study, using a validated acute pain rating scale to assess pain during heel-prick combined with five different procedures: (A) control, (B) 10% oral glucose plus sucking, (C) sensorial saturation (SS), (D) oral water, and (E) 10% oral glucose. SS is a multisensorial stimulation consisting of delicate tactile, vestibular, gustative, olfactory, auditory and visual stimuli. Controls did not receive any analgesia. We studied 85 heel-pricks (5 per baby) performed for routine blood samples in 17 preterm infants (28–35 weeks of gestational age). We applied in random order in each patient the five procedures described above and scored pain. SS and sucking plus oral glucose have the greater analgesic effect with respect to no intervention (p < 0.001). The effect of SS is statistically better than that of glucose plus sucking (p < 0.01). SS promotes interaction between nurse and infant and is a simple effective form of analgesia for the NICU.

Aim Sensorial saturation (SS) is a procedure in which touch, massage, taste, voice, smell, and sight compete with pain, producing almost complete analgesia during heel prick in neonates. SS is an apparently complex maneuvre, but when correctly explained it is easily learnt. In the present paper, we studied its feasibility, assessing whether a long training is really needed to achieve good results. Materials and Methods We enrolled 66 consecutive babies and divided them randomly into 3 groups which received the following forms of analgesia: glucose plus sucking (A), SS performed by nurses (B), SS performed by mothers (C). We did not use perfume on the caregivers' hands, so that babies could smell the natural scent of the hands. We assessed pain level by the ABC scale. Results Median scores of groups A, B, and C were: 1 (0 to 6), 0 (0 to 4), and 0 (0 to 6), respectively. Mean scores were: 0.6, 0.6, and 1.7 and standard errors were 0.38, 0.22, and 0.32, respectively. Scores of groups B and C were significantly lower than that of A (P=0.03 and 0.006, respectively). No significant difference was found between values of scores of groups B and C. Conclusions Even without the use of perfume on the hands, SS was effective as an analgesic maneuvre. It made no difference whether SS was performed by mothers who applied it for the first time or experienced nurses. SS is rapid to learn and any caregiver (mother, pediatrician or nurse) can effectively use it.