Background Glycated albumin (GA) reflects glycemic control in patients with neonatal diabetes mellitus (NDM). However, GA in NDM patients is apparently low in relation to glycemia. Objective To establish the reference intervals for GA in healthy infants. Subjects and Methods Fifty‐eight healthy, full‐term newborn infants were used to define the GA reference values and to investigate its relationship to plasma glucose (PG) and serum albumin. The infants were categorized into three groups according to age: group A, 5 (4–6) median (range) d: n = 18; group B, 33 (30–38) d: n = 19; and group C, 181 (50–352) d: n = 21. We also studied 212 non‐diabetic adults [group D, 53 (28–78) yr old] and the 5 NDM patients previously reported for GA comparisons. Results In the infants, GA was strongly positively correlated with logarithmic transformation of age [log (age)] (p = 0.831, p < 0.0001). The GA in groups A, B, C, and D were 7.3 ± 1.0%, 8.6 ± 1.1%, 10.9 ± 0.8%, and 14.0 ± 1.1%, respectively. The GA was more strongly positively correlated with serum albumin (r = 0.768, p < 0.0001) than with PG (r = 0.596, p < 0.0001). When GA levels were compared with the age‐dependent reference values, GA in the transient NDM patient was normalized although GA in the four permanent NDM patients decreased but remained high after insulin therapy. Conclusions This study showed that the reference range for GA in infants is lower than that of adults and increases with age, with which we confirmed that GA in the NDM patients reflected the clinical course. Consequently, GA in NDM patients should be compared with the age‐based reference values to assess the accurate glycemic status.

Short-rib polydactyly syndrome type III is an autosomal recessive lethal skeletal ciliopathy, which is phenotypically similar to nonlethal asphyxiating thoracic dystrophy. Mutations in DYNC2H1 have been identified in both of these disorders, indicating that they are variants of a single disorder. However, short-rib polydactyly syndrome type III is the more severe variant. Here, we report novel compound heterozygous mutations in DYNC2H1 (p.E1894fsX10 and p.R3004C) in a patient with typical short-rib polydactyly syndrome type III phenotype. R3004 is located within the microtubule-binding domain of DYNC2H1, and its substitution is predicted to disrupt the interaction with microtubules. Considering the severe phenotype of our patient, our findings suggest that R3004 may be a key residue for the microtubulebinding affinity of dynein.

Novel postzygotic KRAS mutation in a Japanese case of epidermal nevus syndrome presenting with two distinct clinical features, keratinocytic epidermal nevi and sebaceous nevi Dear Editor, Epidermal nevus syndrome (ENS) is a heterogeneous congenital disorder characterized by the presence of epidermal nevi associated with systemic involvement. Keratinocytic epidermal nevus (KEN) syndrome and sebaceous nevus (SN) syndrome are included in ENS which share the same postzygotic HRAS and KRAS gene mutations that are relevant for cell proliferation.1,2 A HRAS mutation can induce nevus marginatus, a combined nevus of KEN and SN, 3 and this suggests an identical genetic background of KEN and SN. Here, we report a case of ENS exhibiting both KEN and SN characteristics caused by a novel postzygotic KRAS mutation.A 3-year-old Japanese girl presented with multiple nevoid lesions along Blaschko lines on the left side of her body that she had had since birth. The skin lesions, which were light red at the neonatal stage (Fig. 1a), had transformed into two distinct types: yellowish plaques suggesting SN on the sebaceous gland-rich craniofacial area, and brownish verrucous lesions suggesting KEN on the trunk and extremities (Fig. 1b). Histological evaluation showed papillomatosis and acanthosis with overlying laminated hyperkeratosis (Fig. 1c,d).

GHb measured using the affinity method may be a useful glycemic control marker in infants. Although adj-HbA1c measured using the LA method was correlated with GA, it may not be a practical measure because it was not correlated with PG and determining HbF levels using HPLC method can be troublesome. Adj-HbA1c measured using the HPLC method should not be used as a glycemic marker in infants.

The temperature change in the ETT was not dependent on the oscillatory frequency when the oscillatory volume was fixed; however, the temperature was dependent on the oscillatory volume when the oscillatory frequency was fixed.