Early regression of paraurethral cyst in a neonate.

Paraurethral cyst is a rare cause of interlabial mass formation in female neonates. Paraurethral cysts are generally asymptomatic, and spontaneous regression is expected. However, the management of paraurethral cysts is a controversial topic. Here, we report the case of a female neonate with a paraurethral cyst that regressed spontaneously on day 3 after birth. Urgent surgical treatment of these cysts is not recommended during the early neonatal period.

Developmental alterations of physical properties and components of neonatal-infantile stratum corneum of upper thighs and diaper-covered buttocks during the 1st year of life.

BACKGROUND: Although physical properties of neonatal-infantile stratum corneum (SC) change drastically after birth, precise developmental alterations of specific sites have not been fully elucidated. OBJECTIVE: To determine the longitudinal alterations of neonatal-infantile SC functions and components of upper thighs and diaper-covered buttocks during the first year of life. The data were compared with those of adults. METHODS: Nineteen full-term neonates and their mothers were subjected to the measurements. Skin hydration, water sorption/retention capacity, TEWL were measured. Superficial SC analyses for NMF, ester binding sebum, and free fatty acids were performed by ATR-FTIR spectrometer. Total amount of ceramides (CERs) and CER subclasses were analyzed by NPLC-ESI-MS. RESULTS: SC hydration of neonatal thighs was lower than that of their mothers, which rapidly increased during the 1st month. Skin hydration of neonatal buttocks was similar to that of their mothers. This also rapidly increased during the 1st month. The neonatal TEWL was less than those of their mothers indicating more efficient barrier function at both sites, which significantly increased during the 1st year development. This was mostly correlated decreased in the ω-hydroxy fatty acid-esterified CERs. Superficial ester-binding sebum content of neonates was similar to that of their mothers, which significantly decreased during the measurement; the decrease was more marked on buttocks. Neither NMF nor FFA of the superficial SC showed significant alteration during the 1-year development. CONCLUSION: Our results indicate that physical functions and components of neonatal-infantile SC show considerable alterations between diaper-covered buttocks and upper thighs during the 1st year development.

Maternal deletion allele of Angiotensin-converting enzyme gene is associated with fetal growth restriction.

To investigate the correlation between maternal and fetal angiotensin-converting enzyme gene insertion or deletion polymorphism and birth size, angiotensin-converting enzyme gene insertion or deletion polymorphisms of 470 Japanese pairs of mothers and infants were genotyped. The relationships between maternal and fetal angiotensin-converting enzyme gene insertion or deletion polymorphisms and birth sizes (weight, length, head circumference, and the incidence of small-for-gestational age status) were analyzed. No relationship between fetal angiotensin-converting enzyme genotype and birth size was observed. In contrast, the incidence of small-for-gestational age status in babies whose mothers had 1 or 2 deletion alleles was greater than that in babies whose mothers had 2 insertion alleles (7% vs 3%, P  =  0.045). Maternal deletion allele of angiotensin-converting enzyme is associated with fetal growth restriction in the Japanese normal population.

5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.

All patients with terminal deletion of chromosome 15q have been reported to show intrauterine growth retardation, postnatal growth retardation, abnormal facial appearance and developmental delay. Haploinsufficiency of IGF1R was considered to be responsible for these symptoms. However, it is difficult to explain other symptoms seen in some of the patients, such as congenital heart defects by the absence of IGF1R alone. Here, we reported a patient with congenital heart defects and a 5.78 Mb terminal deletion of chromosome 15q detected by array-CGH. Among the patients reported to share congenital heart defects and terminal deletion of chromosome 15q, our patient had the smallest deletion. Evaluating the deletion map, NR2F2 was considered a candidate gene contributing to congenital heart defects in patients with terminal deletion of chromosome 15q.

Increased expression of matrix metalloproteinase-9 and hepatocyte growth factor in the cerebrospinal fluid of infants with posthemorrhagic hydrocephalus.

BACKGROUND: In approximately 60% of infants with posthemorrhagic hydrocephalus (PHH), ventricular dilation resolves by unknown intrinsic mechanisms, without the need for a shunt operation. A pathological hallmark of PHH is extensive deposition of extracellular matrix (ECM) proteins in the subarachnoid space. Our previous study revealed that matrix metalloproteinase (MMP)-9, which degrades ECM proteins, may play an important role in the resolution of ventricular dilation. MMP-9 is known to be induced by hepatocyte growth factor (HGF) in various cell lines. AIMS: The aim of this study is to confirm our earlier finding that MMP-9 contributes to the resolution of PHH, and to investigate whether HGF also contributes to this process. STUDY DESIGN: Cerebrospinal fluid (CSF) samples were collected from 13 infants who developed ventricular dilation after intraventricular hemorrhage (IVH). Of these infants, 9 exhibited resolution of ventricular dilation without shunt operation; however, 4 infants had to be treated with shunt operation. The CSF levels of MMP-9 and HGF were measured using an enzyme immunoassay. RESULTS: Significantly higher CSF levels of MMP-9 and HGF were detected in patients in whom the ventricular dilation resolved without shunt operation than in those with progressive ventricular dilation (MMP-9: median, 128ng/ml; range, 47-900ng/ml vs median, 50ng/ml; range, 12-110ng/ml; p<0.05; HGF: median, 2.42ng/ml; range, 0.81-7.04ng/ml vs median, 1.42ng/ml; range, 0.67-3.87ng/ml; p<0.05). CONCLUSIONS: Our results indicate that MMP-9 and HGF may participate in the resolution of ventricular dilation following IVH.

Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival.

Campomelic dysplasia (CD) is a rare and usually fatal congenital skeletal disorder with respiratory failure. The SOX9 gene has been cloned as a candidate gene for CD. Here, we report the cases of 2 Japanese patients with CD who have survived for over 5 years. Molecular investigations revealed novel frameshift mutations in SOX9 in these patients; a single G insertion in 1 allele at nucleotide 261 (261-262insG) and a single C insertion in 1 allele at nucleotide 888 (888-889insC). The predicted protein of 261-262insG may lack more than 80% composition of the normal SOX9 protein, including the SRY high mobility group (HMG) domain and the transactivation (TA) domain; the predicted protein of 888-889insC may not contain the normal TA domain. Although it has been reported that most patients with CD die during the neonatal period, our patients have survived for a long time, despite putative severely impaired SOX9 proteins.

Paternal allele of IGF2 gene haplotype CTG is associated with fetal and placental growth in Japanese.

IGF-II associates with feto-placental growth in rodent and human. We determined three tag-single nucleotide polymorphisms (SNPs) to investigate haplotype frequency of IGF2 relative to size at birth in 134 healthy Japanese infants. In addition, a total of 276 healthy infants were investigated to determine whether common genetic variation of IGF2 might contribute to feto-placental growth using haplotype analysis. Further, quantitative methylation analysis of the IGF2/H19 was performed using the MassARRAY Compact system. In the initial study, the frequency of haplotype CTG from the paternal allele in small for date (SFD) infants was significantly higher than that in non-SFD infants (p = 0.03). In a second study, the CTG haplotype infants exhibited significantly lower birth length, weight, and placental weight compared with non-CTG infants. Further, the number of infants less than -1.5 SD (SD) birth weight in CTG haplotype was higher than those in non-CTG infants. There was no significant difference in the methylation status of H19/IGF2 in the two haplotypes. In conclusion, inheriting the IGF2 CTG haplotype from a paternal allele results in reduced feto-placental growth, but it is not associated with the methylation status of IGF2/H19.

Transforming growth factor-beta1 induces matrix metalloproteinase-9 expression in human meningeal cells via ERK and Smad pathways.

Transforming growth factor (TGF)-beta1, a cytokine released into the cerebrospinal fluid (CSF) after intraventricular hemorrhage (IVH), stimulates the expression of the components of the extracellular matrix (ECM), which causes progressive ventricular dilatation by impaired CSF absorption. Matrix metalloproteinase-9 (MMP-9), a proteinase involved in the removal of ECM proteins, has been shown to contribute to the resolution of progressive ventricular dilation after IVH. The aim of this study is to clarify the mechanism by which MMP-9 is expressed following IVH. Cultured human meningeal cells were treated with human recombinant TGF-beta1. RT-PCR demonstrated that TGF-beta1 induced MMP-9 expression in the meningeal cells in a dose-dependent manner. The TGF-beta1-induced MMP-9 expression was attenuated in the presence of either MEK or Smad 3 inhibitor. Our data indicated that MMP-9 is released into the CSF from meningeal cells in response to TGF-beta1, most probably through the activation of ERK and Smad pathways.

Airway humidification with a heated wire humidifier during high-frequency ventilation using Babylog 8000 plus in neonates.

OBJECTIVE: Little data are available on airway humidity during high-frequency ventilation (HFV). Our purpose is to evaluate the airway humidification during HFV. METHODS: We examined the airway humidification and temperature in a neonatal HFV system using Babylog 8000 plus. The absolute humidity (AH), relative humidity (RH), and temperature at different sites and under different HFV conditions were compared with those during conventional intermittent positive pressure ventilation (IPPV). RESULTS: The mean AH and RH at the patient end of the respiratory circuit under 37 degrees C in the humidification chamber (HC) during HFV were less than 35 mg/L and 65%, respectively, while those during IPPV were 42.3 mg/L and 96.8%, respectively. The humidification at the outlet of the HC was similar results. Moreover, during HFV an increase in the bias-flow of ventilator led to a further decrease in the humidity at the patient end of respiratory circuit and the outlet of HC. It was necessary to set the temperature in the HC at >39 degrees C to maintain adequate humidity at the HC and the patient end of respiratory circuit during HFV. An increase in the incubator temperature led to an increase in the temperature at the patient end of the respiratory circuit. The temperature at the patient end of the respiratory circuit was about 39-40 degrees C when the incubator temperature was 35-37 degrees C. CONCLUSIONS: The airway humidification at the patient end of respiratory circuit and the outlet of HC in HFV were poorer than those in IPPV. However, the adequacy of humidification and safety in HFV remain to be demonstrated in clinical practice.

Matrix metalloproteinases in infants with posthemorrhagic hydrocephalus.

The cerebrospinal fluid matrix metalloproteinase (MMP) activities were measured in infants with posthemorrhagic hydrocephalus to elucidate the intrinsic mechanism for the resolution of ventricular dilation. Increased MMP-9 activities were observed in the patients who escaped a shunt operation, suggesting its potential contribution to the resolution of ventricular dilation.