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Surgical management has not been encouraged in patients with trisomy 18 (T18) and congenital heart diseases due to poor survival. This study aimed to investigate (1) the appropriateness of palliative surgeries followed by intracardiac repair (ICR) (i.e., two-stage ICR) for patients with a large ventricular septal defect (VSD) and T18, and (2) its impact on their long-term outcomes. Medical charts of patients with VSD and T18 who underwent two-stage ICR at the Japanese Red Cross Medical Center between January 2005 and December 2019 were retrospectively reviewed. Demographic data, timing, and types of palliative surgeries, information related to ICR, peri- and postoperative clinical information, postoperative survival, and cause of death were collected. The long-term prognosis of patients treated with two-stage ICR was compared with that of patients treated with primary ICR and palliative surgery without ICR. Overall, 18 (2 male, 16 female) patients underwent two-stage ICR. Pulmonary artery banding was the initial palliative surgery in all patients after a median duration of 19.5 (range 6–194) days of life. The median age and the mean body weight at the time of ICR were 18.2 (7.6–50.7) months and 6.0 ± 1.0 kg, respectively. The mean pulmonary artery pressure and pulmonary vascular resistance index before ICR were 19.1 ± 7.3 mmHg and 3.4 ± 2.0 U m2, respectively. Overall, 17/18 (94%) patients were discharged after ICR. Fourteen (78%) patients were alive during data collection. None of the patients died of cardiac insufficiency, and the median duration of survival was 46.3 (14.3–186.4) months since birth. Most patients required cardiac medications rather than pulmonary vasodilators at the last follow-up. During the study period, three patients underwent primary ICR, and 46 underwent palliative surgery without ICR. Of those who underwent primary ICR, two died in the hospital on the first and 48th day following ICR, and the third died 179 days after the ICR. The Log-rank test revealed a significantly longer survival for the patients treated with two-stage ICR compared with those treated with palliative surgery without ICR (P = 0.003). Two-stage ICR improves the long-term survival of patients with VSDs and T18. This safe surgical strategy can also prevent pulmonary hypertension in such patients.

BACKGROUND: Remote-access thyroidectomy and its cosmetic merit have been widely accepted, but remote-access parathyroidectomy has not become common. There are few reports about the risks and effectiveness of a remote-access endoscopic parathyroidectomy. Herein, we evaluated the risks and benefits of total endoscopic parathyroidectomy (TEP) for patients with primary hyperparathyroidism (PHPT). We retrospectively compared the surgical outcomes of TEP and open minimally invasive parathyroidectomy (MIP). METHODS: We analyzed the cases of 28 patients with PHPT who were scheduled to undergo a MIP at Mita Hospital (Tokyo) during the period from April 2015 to March 2019, all of whom were presumed preoperatively to have a single adenoma. RESULTS: Eleven of the patients underwent a TEP (10 females, one male; mean age 54.2 years). The other 17 patients underwent an open MIP (11 females, 6 males; mean age 63.5 years). The younger patients and the females tended to select endoscopic surgery as their treatment. The operation time was significantly longer in the TEP group compared to the open MIP group (106 vs. 50 min; P

Understanding of the long-term soil fertility trends is the basis for rational and sustainable management of the soil resources in agricultural fields. In tropical Asia, the Green Revolution initia...

Remote-access total endoscopic thyroidectomy (TET) is a recently established approach that can avoid producing scars in the neck. There are no clear surgical indications for TET for benign nodules or for malignant tumors at present. We report a successful TET in a 50-year-old Japanese woman with follicular lymphoma of the thyroid gland after an open neck biopsy. She had been referred to us with a neck tumor noted 2 months earlier. Because of adhesion, we performed a combined resection of the thyroid and partial right sternohyoid muscle. To the best of our knowledge, there is no other report of a TET performed after open neck surgery. Our patient's case demonstrates that (a) the cosmetic outcome of TET is clearly superior to that of conventional open neck surgery, and (b) a TET can be suitable even for reoperation if carefully selected.

To examine the exchangeability of 137Cs and K in soils of agricultural fields after decontamination, 173 soil samples were collected in 2016 from the plowed layer (0–15 cm depth) of decontaminated agricultural fields in Tomioka town, Fukushima prefecture, Japan. We investigated total 137Cs, exchangeable 137Cs, exchangeable K, and nonexchangeable K content for these soils. The total 137Cs content in soils was, on average, 1,200 Bq kg−1 (value range: 20–4,400 Bq kg−1), which was an 80% decrease from the values determined before the decontamination. This result indicated that the decontamination process considerably reduced the total 137Cs content in the plowed layer. The exchangeable K content in soils was on average 172 mg kg−1 (value range: 27.9 – 743 mg kg−1). More than 80% of soils showed the exchangeable K content lower than the recommended threshold value for paddy soils needed in order to reduce the 137Cs transfer from soil to plant (i.e. 200 mg kg−1). The nonexchangeable K content showed a w...

Summary:. Aplasia Cutis Congenita (ACC) in the scalp is a rare congenital malformation. The treatment for ACC with large defects involving the scalp, bone, and the dura is challenging. Local debridement of necrotic tissue is important to prevent lethal complications such as infection and meningitis. However, debridement has the risk of damaging the sagittal sinus or the dura. Recent developments in ultra-high-frequency ultrasound(US) systems provide frequencies of 70 MHz and capability resolution as fine as 30 μm, which could allow precise imaging of small and thin anatomical structures. The study aimed to describe the methods of precise evaluation of the defect in the scalp and safe debridement using ultra-high-frequency US. This is the first report on direct observation of a newborn’s brain using ultra-high-frequency US. The boy was delivered spontaneously with a large defect of the scalp and bone. After 14 days, due to signs of infection, local debridement was performed carefully under ultra-high-frequency US-based evaluation. The dura, the sagittal sinus, and the small anatomical structures such as arachnoid granulations could be observed. Because the brain herniation gradually aggravated, dural reconstruction using fascia lata and scalp reconstruction using transposition flap was performed. Finally, good skin coverage over the defects was obtained. This method minimizes the risk of damaging the sagittal sinus and the brain parenchyma, which may cause fatal complications. Although further clinical investigations will be required to confirm its efficacy, ultra-high-frequency US has the potential to be a useful device for ACC treatment.

Background We previously showed that glycated albumin (GA) is a useful glycemic control indicator in patients with neonatal diabetes mellitus (NDM), and that age-adjusted GA (Aa-GA) can reflect more accurately glycemic control status. Here, we investigated whether the age at diagnosis influences Aa-GA at diagnosis of NDM. Methods Eight patients with NDM whose GA was measured at diagnosis (age at diagnosis: 39 ± 18 days; GA: 31.3 ± 7.6%; Aa-GA: 47.1 ± 10.3%; plasma glucose: 525 ± 194 mg/dl) were included. Aa-GA was calculated as follows: Aa-GA = GA × 14.0/[1.77 × log-age (days) + 6.65]. Correlations of GA or Aa-GA at diagnosis with its logarithmically transformed age in days (log-age), plasma glucose, and their product were investigated. Results GA at diagnosis was not significantly correlated with log-age or plasma glucose. On the other hand, Aa-GA at diagnosis was significantly positively correlated with plasma glucose (R = 0.75, P = 0.031) and was more strongly positively correlated with the product of plasma glucose and log-age (R = 0.82, P = 0.012) although it was not correlated with log-age. Conclusion Aa-GA at diagnosis is influenced by both age in days and plasma glucose. This finding is likely to show the aspect that age in days is almost equal to diabetes duration because glycemic control indicators including GA reflect the weighted mean of plasma glucose.

Background Early definitive diagnosis of necrotizing enterocolitis (NEC) based on Bell's staging criteria is difficult because there are few observable changes on abdominal imaging and blood chemistry tests at the onset of the disease. Purpose To investigate whether prostaglandin E-2 major urinary metabolite (PGE-MUM) can be a useful surrogate marker reflecting the disease state and severity of NEC in infants. Methods Infants were enrolled in this study between January 2014 and December 2016. NEC diagnosis was based on Bell's staging criteria > Stage II or necrotic bowel observed at surgery. After diagnosis, PGE-MUM level was measured and compared with that of the other disease and healthy infant groups. Results Median PGE-MUM value was highest in the NEC group (576 [65–3672] μg/g•Cre/BSA × 1000), followed by the other disease group (94 [57–296] μg/g•Cre/BSA × 1000) and the healthy infant group (19 [10–44] μg/g•Cre/BSA × 1000) (sensitivity: 92.3%, specificity: 81.5%, accuracy: 85.0%; p Conclusions PGE-MUM level may be a useful surrogate biomarker reflecting the disease state of NEC. The method of urine sample collection is also advantageous, being noninvasive for infants. This is the first study reporting PGE-MUM level in NEC. Type of study Study of diagnostic test. Level of evidence LEVEL II.

Background In perinatal medicine, inhaled nitric oxide (iNO) has been an important tool for the treatment of full-term and late-preterm infants with persistent pulmonary hypertension of the newborn (PPHN) and hypoxemic respiratory failure (HRF). Its use in more premature infants, however, is controversial. To evaluate the current clinical practices regarding use of acute iNO in extremely preterm infants, a nationwide survey was conducted in Japan. Methods A questionnaire survey was conducted from May to September, 2015. Questionnaires about PPHN and iNO treatment were sent to the doctor in charge of the neonatal care unit in 213 perinatal medical centers (PMC) that possessed iNO equipment in Japan. Results A total of 143 of the 213 PMC provided responses (67.1%). A diagnosis of PPHN was made exclusively on echocardiography in all PMC. On definitive PPHN diagnosis, iNO was selected in the majority of the PMC (72%) and started from ≤10 p.p.m. in most PMC (49.7%) for extremely preterm infants. During iNO therapy, cardiac function was checked on echocardiography by a neonatologist every ≤8 h. iNO weaning was started when differential peripheral oxygen saturation (SpO2 ) disappeared, or when SpO2 reached 100% and so on. After iNO concentration reached 5 p.p.m., it was decreased gradually and carefully in five steps, taking 12-24 h to go from 5 to 0 p.p.m. Conclusions Inhaled nitric oxide was predominantly used in extremely preterm infants as early rescue therapy for PPHN based on echocardiography performed by a neonatologist.

Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus). Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceride -enriched formula. This is the first case of pancreatic agenesis with both malformations where the patient is discharged from the hospital. Early diagnosis and adequate treatments to compensate pancreatic function may prevent mortality and improve growth.

OBJECTIVE To compare rates of a composite outcome of mortality or major morbidity in very-preterm/very low birth weight infants between 8 members of the International Network for Evaluating Outcomes. STUDY DESIGN We included 58 004 infants born weighing

Background Glycated albumin is a useful glycaemic control indicator for neonatal diabetes mellitus. However, glycated albumin concentrations in infants are lower than those in adults and increase in an age-dependent manner. Based on our investigation of non-diabetic subjects, we proposed the possibility that the reference range for adults may be used regardless of age, provided that age-adjusted glycated albumin is employed. In the present study, we evaluate the usefulness of age-adjusted glycated albumin in neonatal diabetes mellitus patients. Methods Six neonatal diabetes mellitus patients (four patients with permanent neonatal diabetes mellitus and two patients with transient neonatal diabetes mellitus) were included. Measured glycated albumin or age-adjusted glycated albumin was compared to calculated glycated albumin, which was determined using calculation formulae we had reported based on past blood glucose over the 50 days before measurement of glycated albumin. Results Measured glycated albumin was significantly lower than calculated glycated albumin (20.5 ± 4.9% versus 28.2 ± 6.1%; p Conclusion We demonstrated that age-adjusted glycated albumin concentrations were consistent with calculated glycated albumin. Age-adjusted glycated albumin is therefore a useful glycaemic control indicator for neonatal diabetes mellitus patients.

Antibody-mediated acute rejection (AbAR) is one of the primary causes of graft impairment in kidney transplant recipients. Deoxyspergualin (DSG), which displays an antiproliferative action against antigen-stimulated B cells inhibiting antibody production, may be effective to rescue AbAR in combination with plasmapheresis by suppressing antibody production and elimination. In the present study, we report our experience with DSG/plasmapheresis therapy for the treatment of AbAR. Five kidney transplant patients experienced a steroid-resistant acute rejection requiring dialysis followed by an AbAR that was confirmed by biopsy and flow cytometry crossmatch (FCXM) results. DSG was administration at 3 mg/kg per day for 10 days with plasmapheresis reduce antidonor antibody. Treatment outcome, effectiveness, and adverse events were examined; in two cases sequential FCXM examinations were performed to evaluate antibody status. All five patients received DSG/plasmapheresis therapy. The number of plasmapheresis treatments ranged from 1 to 9 according to treatment outcomes. Four patients recovered graft function following treatment; whereas one showed no response to the treatment, and the graft was lost. No serious side effects or infections were observed during or after treatment. Monitoring of sequential FCXM correlated with the clinical course. AbAR shows a worse prognosis than cellular rejection. It is refractory to conventional antirejection therapy. In the present study, DSG/plasmapheresis therapy was effective in four of five patients (80%) with AbAR. It may be considered the first choice of treatment for cases of acute humoral rejection.

We report a case of alveolar capillary dysplasia, wherein duodenal atresia was diagnosed during the third trimester. A 36-year-old mother was referred to our hospital for polyhydramnios at 31 weeks' gestation. Duodenal atresia was suspected from the ultrasonographic findings, which showed gastric dilation. Other findings noted were enlarged, highly echogenic lungs, a spherical heart and an increased lung-thorax transverse area ratio. A male infant was born at 37 weeks' gestation. The findings of serial radiography of the infant's upper gastrointestinal tract were compatible with the diagnosis of duodenal atresia; however, he developed persistent pulmonary hypertension of the newborn eight hours after birth and died at five days of age. The autopsy revealed alveolar capillary dysplasia and duodenal obstruction. We propose that the detection of duodenal atresia should prompt the physician to conduct a thorough ultrasonographic examination to rule out associated anomalies, such as alveolar capillary dysplasia, which can be detected by the presence of highly echogenic lungs.

Background The accuracy of most HbA1c analysis methods is affected by the presence of increased fetal hemoglobin (HbF). The objective of this study was to investigate the age at which HbA1c measurements become useful for monitoring glycemic control in patients with neonatal diabetes mellitus (NDM). Methods We retrospectively analyzed the data of 5 NDM patients diagnosed at 38 ± 20 days of age, who each had several available HbA1c measurements during the first year of life, with a control group of HbA1c values over the course of 1 year for 13 patients with type 1 diabetes mellitus (T1DM). Mean blood glucose (MBG) levels derived from premeal or premeal plus bedtime blood glucose measurements prior to HbA1c measurements were compared to HbA1c values. Results The NDM patients' age at which the difference in the HbA1c/MBG ratios became not significant between the NDM patients and the T1DM patients was 21 weeks of age and over. Even after the HbA1c was adjusted for HbF, this ratio was significantly lower in the NDM patients at Conclusions HbA1c can be a useful glycemic control marker for NDM patients > 20 weeks of age.

Background: Reticulated platelets (RPs) are newly synthesized platelets. Recently, an automatic method was established to detect RPs as a percentage of the immature platelet fraction (IPF%). Although, neonates often develop thrombocytopenia at some time during their hospitalization, the details of IPF% in neonates remain unclear. We, therefore, studied the relations between IPF% and other factors to gain a more detailed understanding of IPF% in neonates. Methods: The following clinical data were obtained from the medical records of 105 neonates who met our inclusion criteria: Gestational age, birth weight, IPF% and platelet count of neonatal peripheral blood at birth, and perinatal data. The subjects were divided into three groups: Group A, birth weight standard deviation score (SDS) ≥ −2 standard deviation (SD) and ≤ +2 SD; Group S, < −2 SD; and Group L, > +2 SD. Results: IPF% correlated negatively with platelet count at birth in the whole study population. IPF% was 2.8 ± 1.3% in term neonates, and IPF correlated negatively with gestational age and birth weight. Platelet count correlated positively with birth weight SDS in the whole study population and in Group S. IPF% correlated negatively with birth weight SDS in the whole study population and in Group S. In neonates with a platelet count below 25 × 104/μl, IPF% correlated negatively with platelet count. Among other neonates, however, IPF% remained almost constant. Conclusion: Monitoring of IPF% is useful for estimating the function of thrombocytopoiesis in neonates and preterm infants.

Recently, GATA6 heterozygous loss-of-function mutations were reported to cause pancreatic agenesis and congenital heart defects (PACHD [OMIM:600001]). However, the molecular mechanisms resulting from premature termination codons have not been examined in this disorder. The objective of this study was to perform a genetic analysis of a patient with PACHD. A female patient presented with ventricular septal defect, patent ductus arteriosus, and congenital diaphragmatic hernia at birth. Permanent neonatal diabetes mellitus and pancreatic exocrine deficiency due to pancreatic agenesis was diagnosed at 1 month of age. PCR-direct sequencing of GATA6 revealed that the patient is heterozygous for a novel de novo nonsense mutation of c.1477C>T, p. Arg493X in exon 5. RT-PCR direct sequencing of the RT-PCR products of total RNA from peripheral blood of the patient for the region encompassing exons 4-6 revealed only the wild-type allele. This finding provides the evidence for the occurrence of nonsense-mediated mRNA decay (NMD) in the p.Arg493X mutation. Quantitative RT-PCR analysis revealed that the expression of GATA6 transcript in the patient was less than half compared with normal control samples. This is the first evidence that GATA6 haploinsufficiency is caused by NMD in vivo, and we conclude that GATA6 haploinsufficiency causes not only PACHD but may affect other organs derived from the endoderm. Further screenings of GATA6 mutations in patients with various forms of diabetes and/or congenital heart disease with other visceral malformation may reveal the impact of GATA6 mutations on diabetes and congenital malformation.

It is difficult to use HbA(1c) as an indicator of glycaemic control in patients with neonatal diabetes mellitus (NDM) because of high levels of fetal haemoglobin (HbF) remaining in the blood. In this study, glycated albumin (GA), which is not affected by HbF, and HbA(1c) were compared to evaluate whether they reflect glycaemic control in patients with NDM.This study included five patients with NDM. Age at diagnosis was 38 ± 20 days. Insulin therapy was started in all patients, and levels of GA, HbA(1c) and HbF were measured monthly for 6 months. One-month average preprandial plasma glucose (aPPG) was calculated using self-monitoring of blood glucose.Plasma glucose and GA were elevated (29.7 ± 13.1 mmol/l [n = 5] and 33.3 ± 6.9% [n = 3], respectively) but HbA(1c) was within normal limits (5.4 ± 2.6% [35.5 ± 4.9 mmol/mol]; n = 4) at diagnosis. With diabetes treatment, aPPG (r = -0.565, p = 0.002), GA (r = -0.552, p = 0.003) and HbF (r = -0.855, p0.0001) decreased with age, whereas HbA(1c) increased (r = 0.449, p = 0.004). GA was strongly positively correlated with aPPG (r = 0.784, p0.0001), while HbA(1c) showed no correlation with aPPG (r = 0.221, p = 0.257) and was significantly inversely correlated with HbF (r = -0.539, p = 0.004).GA is a useful indicator of glycaemic control in patients with NDM, whereas HbA(1c) is influenced by age-related changes in HbF and does not accurately reflect glycaemic control.

Basiliximab, a chimeric monoclonal antibody against the alpha chain of the interleukin-2 receptor (IL-2R) has been used in renal transplant patients. We monitored sequential blood concentrations of basiliximab in a patient who received a kidney transplant with basiliximab-based immunosuppression together with multiple sessions of plasmapheresis. A 34-year-old man received a living-related kidney transplant with induction immunosuppression including tacrolimus, mycophenolate, methylprednisolone, and basiliximab. Severe antibody-mediated acute rejection lead to a requirement for hemodialysis. Deoxyspergualin was administered for 10 days at a daily dose of 5 mg/kg combined with eight sessions of double filtration plasmapheresis (DFPP). After treatment, the serum creatinine returned to 0.95 mg/dL, and there were no major complications or infections. Sequential basiliximab blood levels of the patient were monitored following transplantation. The serum basiliximab concentration decreased by 72.4% after five consecutive DFPPs, and by 87.6% after eight DFPP sessions. The elimination rate of basiliximab (DeltaBLX) was 6.1% before DFPP, but increased over eight DFPPs to 20.5%. Serum basiliximab concentrations declined to 0.16 microg/mL on day 33, which is below the IL-2R saturation concentration (0.2 microg/mL). Multiple sessions of plasmapheresis using DFPP enhanced the elimination of serum basiliximab at an average elimination rate of 19.1%. In the patient reported on here, the serum basiliximab concentration fell to below the IL-2R saturation level (0.2 microg/mL) within 1 month of living-related kidney transplantation. We recommend that additional basiliximab infusions be considered for cases undergoing more than three plasmapheresis sessions.