Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is occasionally associated with hyperinsulinemic hypoglycemia (HH) in the neonatal period. Sotos syndrome (SS) and Kabuki syndrome (KS) are other malformation syndromes that may be complicated with HH, however, the detailed clinical characteristics of HH accompanied with these syndromes remain unclear. We herein conducted a nationwide questionnaire survey in Japan. We sent a primary questionnaire concerning the clinical experience for these syndromes to 347 perinatal care institutions. As a result, 222 departments or hospitals returned the questionnaires and the total numbers of BWS, SS, and KS patients were 113, 88, and 51, respectively. We sent a secondary questionnaire to 31 institutions where patients with these syndromes presented with HH during infancy. The secondary questionnaires were returned from the institutions and the numbers of patients were 16 for BWS, 9 for SS, and 3 for KS, respectively. Then, we compared the clinical characteristics of infants suffering from transient HH with and without these dysmorphic syndromes. As a result, BWS, SS, and KS patients showed significantly larger body size, lower Apgar scores, higher insulin levels at HH, and shorter durations of HH than non-dysmorphic infants with transient HH. We propose that a careful observation for the signs of HH, even if not specific to the syndromes, is important for the diagnosis of patients with BWS, SS, and KS in the postnatal period. © 2016 Wiley Periodicals, Inc.

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Background Automatic lancets have been reported to be superior to manual lancets in terms of pain and treatment time. However, no studies have yet been published comparing automatic lancet and needle puncture heel‐prick blood sampling. The objective of this study was to compare the pain response and efficiency between the automatic lancet and needle at the time of heel blood sampling. The design was a randomized controlled trial. The inclusion criteria for the participants were a birthweight of ≧1,500 g and a gestational age of ≧30 weeks. Methods The study examined a total of 105 neonates who were randomized into an automatic lancet group (n = 53) and a needle group (n = 52). The parameters measured included blood collection time, number of calf squeezes, duration of audible crying, and the Neonatal Infant Pain Scale (NIPS) score. The main outcome measure was audible crying duration. Results The duration of audible crying was significantly shorter in the automatic lancet group when compared to the needle group (median 3 s, interquartile range (IQR) 0–33 s vs median 39 s, IQR 5–91.5 s, P = 0.0023). The NIPS score at the time of puncture was significantly lower in the automatic lancet group than in the needle group (median 1, IQR 0–5 vs median 5, IQR 3–6, P = 0.0060). There was no significant difference in the blood collection time and the number of calf squeezes between the two groups. The automatic lancet was found to be less painful than the needle puncture in neonatal heel‐prick blood sampling with no significant difference in blood sampling time. Conclusion The automatic lancet was found to be less painful than the needle puncture in neonatal heel‐prick blood sampling with no significant difference in blood sampling time.

We describe a novel mutation in DCX in a family in which a proband boy had classical lissencephaly and his mother had extremely mild subcortical band heterotopia. No factors that would make the mother's symptoms milder, such as somatic mosaicism or skewed X chromosome inactivation, were observed. From this family, we conclude that a DCX mutation causes a pleiotropic phenotype in the female even if X chromosome inactivation pattern is not skewed, and the novel missense mutation in DCX produced relatively mild dysfunction of the doublecortin protein.

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