Admission temperature of very low birth weight infants and outcomes at three years old.

The lower body temperature of preterm newborns at admission to neonatal intensive care units (NICUs) is inversely associated with their morbidities and mortalities before discharge. This retrospective cohort study aimed to determine whether admission rectal temperature in very low birth weight infants (VLBWIs) is independently associated with a composite outcome of death or moderate-to-severe neurodevelopmental impairments as defined by a performance developmental quotient of < 70 at three years of age. VLBWIs admitted to the NICU between April 2010 and March 2016 were assesed. Developmental assessment was completed in 216 newborns. Nine and two infants died before and after discharge, respectively. A higher admission temperature was associated with a lower incidence of death or moderate-to-severe neurodevelopmental impairments with adjustment for gestational age, sex, antenatal steroid use, Apgar score, severe intraventricular hemorrhage, and severe bronchopulmonary dysplasia (odds ratio [OR] 0.424; 95% confidence interval [CI] 0.250-0.717; p = 0.001). The admission temperature remained as an independent variable of adverse outcome at three years of age even when the study cohort was limited to surviving infants (OR 0.448; 95% CI 0.259-0.774; p = 0.004). Further studies are needed to assess whether avoiding low body temperature at admission results in better long-term neurodevelopmental outcomes in VLBWIs.

A case of congenital capillary proliferation of the kidney (CCPK).

We report a case of congenital capillary proliferation of the kidney (CCPK) along with the multimodality imaging findings. Four-day-old boy who had managed due to his mother's gestational diabetes underwent abdominal ultrasound and a mass was detected in the right kidney. On gray scale ultrasound, the mass exhibited a hyperechoic, slight lobulated shape and a circumscribed margin. On Doppler mode, the mass showed hypervascularity in its peripheral to central zones. On MRI, the mass was hyperintense on the T2-weighted image, and no diffusion restriction was noted on DWI/ADC. On computed tomography, strong enhancement was shown at center of the mass at the post-contrast early phase; homogeneous enhancement at the entirety of the mass was observed at the delayed phase. We suspected hemangioma but did not rule out the possibility of malignancy. Surgery was performed. Pathologically, the specimen showed a proliferation of capillaries which were positive for vascular endothelial markers and negative for GLUT1 in immunohistochemistry. A small number of entrapped tubules and glomeruli were also observed. After an intensive pathological examination, the diagnosis of CCPK was finally considered. CCPK was recently described as an extremely rare childhood renal vascular lesion, and to our knowledge, only five other cases have been reported. Our patient's multimodality imaging findings well reflected the characteristics of a vascular lesion.

Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2.

Noonan syndrome-like disorder with loose anagen hair (NSLH) is a rare disease characterized by typical features of Noonan syndrome with additional findings of relative or absolute macrocephaly, loose anagen hair, and a higher incidence of intellectual disability. NSLH1 is caused by a heterozygous mutation in the SHOC2 gene on chromosome 10q25, and NLSH2 is caused by a heterozygous mutation in the Protein phosphatase one catalytic subunit beta (PPP1CB) gene on chromosome 2p23. Protein phosphatase1 (PP1), encoded by PPP1CB, forms a complex with SHOC2 and dephosphorylates RAFs, which results in activation of the signaling cascade and contribution to Noonan syndrome pathogenesis. Here, we report two genetically confirmed Japanese patients with NSLH2 having the same de novo mutation in PPP1CB presenting prominent-hyperteloric-appearing eyes and a tall forehead similar to individuals carrying a mutation in PPP1CB, c.146C > G; p.Pro49Arg, which is different from typical facial features of Noonan syndrome. They also showed short stature, absolute macrocephaly, and loose anagen hair like NSLH1: however, growth hormone deficiency often seen in NSLH1 caused by SHOC2 mutation was absent. Although a number of Noonan syndrome and NSLH1 patients have shown blunted or no response to GH therapy, linear growth was promoted by recombinant human growth hormone (rhGH) in one of our patients. Since another NSLH2 patient with good response to rhGH treatment was reported, rhGH therapy may be effective in patients with NSLH2.

Standardization of phototherapy for neonatal hyperbilirubinemia using multiple-wavelength irradiance integration.

BACKGROUND: Phototherapy with radiation of 460-490 nm wavelengths provides the most potent therapeutic effect for neonatal jaundice. However, the efficacy of phototherapy has been estimated using single-wavelength detectors with sensitivity at approximately 460 nm. Cyclobilirubin formation capacity (CFC), which comprises the sum of the irradiance values from three wavelengths multiplied by their specific coefficients, has been proposed as an alternative marker to evaluate the efficacy of phototherapy. This study aimed to test whether two types of phototherapy devices with distinct spectral characteristics provide similar therapeutic effects on adjustment of device-to-patient distances to deliver similar CFCs. METHODS: Using a three-wavelength spectroradiometer, CFCs and footprints of the light-emitting diode and fluorescent tube devices were assessed. Having determined the device-specific distances that ensured similar CFCs, 32 newborn infants, requiring phototherapy for hyperbilirubinemia, were randomized into the light-emitting diode and fluorescent tube groups. The total serum bilirubin levels before and after phototherapy were assessed. RESULTS: The light-emitting diode and fluorescent tube devices had comparable CFCs at distances of 60 and 50 cm, respectively. Phototherapy reduced the total serum bilirubin levels from 18.1 to 14.6 mg/dL and from 19.1 to 15.1 mg/dL in the light-emitting diode and fluorescent tube groups, respectively. The two groups did not differ significantly with respect to the patients' clinical backgrounds, serum bilirubin levels, or changes before and after phototherapy. CONCLUSION: At similar CFCs, the two phototherapy devices reduced the total serum bilirubin levels by comparable amounts. Hence, determining CFCs may help predict phototherapy efficacy. This may ensure better safety and greater efficacy of the treatment for newborn infants.

Laparoscopic-assisted Stamm-gastrostomy: technical modifications to ease suturing inside the minimal trocar site.

Laparoscopic gastrostomy tube placement has been increasingly adopted by pediatric surgeons. We herein report our experience with the performance of a laparoscopic-assisted Stamm-operation inside the minimal trocar site without the extension of the trocar site incision or mini-laparotomy. We present some technical modifications that facilitate suturing inside the minimal trocar site. METHODS: A retrospective chart review was conducted of cases involving patients who underwent laparoscopic-assisted gastrostomy, using a simple extracorporeal method inside the trocar site from April 1998 to March 2018. RESULTS: One hundred five gastrostomy tubes were placed in a laparoscopic-assisted operation. All but two of the cases involved patients with neurological impairment. The mean age was 12.5 years; 28 cases were > 16 years of age. Seventy-five cases underwent gastrostomy during laparoscopic fundoplication. All gastrostomy procedures were completed without intraoperative difficulties; however, 8 cases, which involved a thick abdominal wall, required extension of the trocar site. No cases required conversion to open gastrostomy. No major complications were observed. Two patients developed continuous peristomal cellulitis after surgery, due to the mismatch of the site position and an unsuitable button device size. CONCLUSION: We demonstrated that laparoscopic gastrostomy with fully extracorporeal suturing within the trocar site is feasible and beneficial, especially for the most neurologically impaired pediatric cases. Technical modification, changing the order of the process, and suturing technique in the minimal space, made it easier to perform the procedures inside the minimal trocar hole.

Single nucleotide polymorphisms in AGTR1, TFAP2B, and TRAF1 are not associated with the incidence of patent ductus arteriosus in Japanese preterm infants.

BACKGROUND: Persistent patent ductus arteriosus (PDA) is a frequent complication in preterm infants. Single nucleotide polymorphisms (SNP) in several genes, including angiotensin II receptor, type 1 (AGTR1), transcription factor AP-2 beta (TFAP2B) and tumor necrosis factor receptor-associated factor 1 (TRAF1), have been reported to be associated with PDA in preterm infants. The aim of this study was to evaluate the relationships between PDA in preterm infants and polymorphisms in AGTR1, TFAP2B and TRAF1 in the Japanese population. METHODS: The subjects consisted of 107 preterm infants with gestational age <32 weeks. Extremely low-birthweight infants were treated with prophylactic indomethacin during the first 24 h after birth. Five SNP, namely, rs5186 in AGTR1, rs987237 and rs6930924 in TFAP2B, and rs1056567 and rs10985070 in TRAF1, were genotyped using TaqMan SNP genotyping assays. RESULTS: There were no significant differences in the distributions of the genotypes and allele frequencies of all studied SNP between the PDA group (n = 46) and the non-PDA group (n = 61). CONCLUSIONS: There were no significant associations between the studied SNP and the incidence of PDA in Japanese preterm infants. These SNP may not be clinically important predisposing factors for PDA in Japanese preterm infants.

Brain atrophy caused by vitamin B12-deficient anemia in an infant.

Vitamin B12 deficiency in infants often presents with nonspecific hematological, gastrointestinal, and neurological manifestations. It is usually caused by inadequate intake, abnormal absorption, or congenital disorders of vitamin B12 metabolism, including transport disorders. We describe a vitamin B12-deficient infant with severe anemia who was breastfed. His mother had undiagnosed vitamin B12 deficiency having undergone total gastrectomy 18 years earlier. The infant developed normally after taking vitamin B12. It is important to suspect vitamin B12 deficiency in mothers who have undergone gastrectomy. Early diagnosis and treatment of vitamin B12 deficiency in infants is important and will help improve long-term prognosis.

A new method of transanal catheter fixation for neonates with long segment-type Hirschsprung's disease.

We managed long-segment aganglionosis in two neonates by performing colonic irrigation through an indwelling transanal catheter for 65 and 30 days, respectively, until a laparoscopy-assisted primary pull-through operation could be performed. The catheter was fixed by tying it to the tubes, criss-crossed at the anus, and securing the opposite ends of the tubes away from the diaper. This form of management with our devised method of transanal catheter fixation and simple frequent tube washouts improved the preoperative quality of life of both the babies and their parents remarkably.

Massive bloody stools in two neonates caused by cow's milk allergy.

Two neonatal cases of cow's milk allergy showing bilous vomiting and massive bloody stool are presented. In both cases, laboratory data on admission showed no eosinophilia. The immediate upper gastrointestinal series of both cases demonstrated no evidence of intestinal malrotation, but revealed a narrowing of the duodenum and upper jejunal loops and marked stasis of barium in one case, suggesting an edema with inflammation. Rectal mucosal punch biopsy of the other case showed eosinophilic infiltration in the lamina propria. These findings suggested an allergic origin, useful information for avoiding confusion with some diseases requiring emergency surgery. In both cases, bleeding resolved soon after elimination of cow's milk from the diet. Thereafter both cases showed a moderate to marked increase in peripheral eosinophilia, while serum radioallergosorbent tests for cow's milk protein were negative. Definitive diagnosis of allergic enterocolitis is difficult because there is neither specific laboratory data nor tests. Allergic enterocolitis can occur in the early neonatal period and should be considered in differential diagnosis of any newborn developing gastrointestinal bleeding.

Visible male nipple shadows in chest radiographs.

OBJECTIVE: Annual company employee physical examinations are performed in Japan and include a chest X-ray. Among nodular shadows observed in the lower lung field, nipple shadow is a normal structure to be differentiated, and understanding its characteristics in chest X-rays aids in the interpretation of solitary nodular shadows. METHODOLOGY: Chest X-rays from male employees over 35 years of age at two different companies were analysed for anatomical location, morphology, and size of nipple shadows. If unilateral or bilateral solitary nodular shadows in the lower lung field coincided with the lead nipple marker, we defined it as 'definitive' nipple shadow. If the nodular shadow was observed to be stable for at least 2 years at the typical nipple position, we defined it as 'possible' nipple shadow without confirmation with nipple marking. RESULTS: Typical nipple position, from the analyses of definitive nipple shadows (n = 15), was between the ninth and tenth posterior ribs and within 60 mm from the inner margin of the rib. The nipple was oval or round and did not exceed 15 mm in size. Incidence of definitive and possible (n = 25) nipple shadows was estimated as 3.5% of examined males (n = 1150). Thoracic computed tomography scanning was conducted in four cases, of which three cases involved solitary nodular shadows that did not coincide with the nipple marker, and one was for a newly formed nodular lesion not detected in previous chest X-rays. CONCLUSION: Visible male nipple shadows are not rare and need to be differentiated among the solitary nodular shadows in the lower lung field.