Septic Arthritis Caused by Haemophilus parainfluenzae : A Pediatric Case Report and Literature Review.

We report a healthy 5-year-old boy without apparent risk factors who developed septic arthritis of the hip from Haemohilus parainfluenzae infection. A literature review revealed only 4 pediatric cases of osteoarticular infection caused by this pathogen. To our knowledge, our case may be the first pediatric case of septic arthritis of the hip caused by H. parainfluenzae .

A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.

Auriculocondylar syndrome (ARCND) is an autosomal monogenic disorder characterised by external ear abnormalities and micrognathia due to hypoplasia of the mandibular rami, condyle and coronoid process. Genetically, three subtypes of ARCND (ARCND1, ARCND2 and ARCND3) have been reported. To date, five pathogenic variants of GNAI3 have been reported in ARCND1 patients. Here, we report a novel variant of GNAI3 (NM_006496:c.807C>A:p.(Asn269Lys)) in a Japanese girl with micrognathia using trio-based whole exome sequencing analysis. The GNAI3 gene encodes a heterotrimeric guanine nucleotide-binding protein. The novel variant locates the guanine nucleotide-binding site, and the substitution was predicted to interfere with guanine nucleotide-binding by in silico structural analysis. Three-dimensional computer tomography scan, or cephalogram, displayed severely hypoplastic mandibular rami and fusion to the medial and lateral pterygoid plates, which have been recognised in other ARCND1 patients, but have not been described in ARCND2 and ARCND3, suggesting that these may be distinguishable features in ARCND1.

Pertussis without apparent cough in a disabled girl with a tracheostomy.

Pertussis is characterized by intense, prolonged coughing in children often followed by a distinctive whooping sound on inspiration. However, the clinical manifestations and natural course of pertussis in disabled children are largely unknown. We experienced a case of pertussis in a disabled girl who had previously undergone a tracheostomy and laryngotracheal separation. She presented with increased tracheal secretions and required hospitalization but did not develop a cough. Pertussis was suspected from the sputum Gram stain, which revealed numerous, short gram-negative rods that did not grow on chocolate agar. A nucleic acid amplification test was positive for Bordetella pertussis and the patient improved on azithromycin. Pertussis may present without its cardinal symptoms in disabled children.

A female newborn having mosaicism with near-tetraploidy and trisomy 18.

Tetraploidy is characterized by the presence of four complete sets of chromosomes in an individual. Full tetraploidy is usually considered lethal. To date, only ten live-births with the condition have been reported. Trisomy 18 without neonatal intensive treatment is also known to be fatal. We report a female newborn who had mosaicism with near-tetraploidy and trisomy 18 (94,XXXX,+18,+18/47,XX,+18). She had features of conditions. The most plausible mechanism of the formation was a failure of cytoplasmic cleavage at the first division of the zygote. The longer survival of the patient compared with the 10 previously reported live-births with non-mosaic tetraploidy may be due to the dominance of the trisomy cells. We suggest that non-tetraploid cells, even when trisomic for chromosome 18, might contribute to longer survival in comparison to non-mosaic tetrapolid patients.

Medical procedures and outcomes of Japanese patients with trisomy 18 or trisomy 13: analysis of a nationwide administrative database of hospitalized patients.

The choices of aggressive treatment for trisomy 18 (T18) and trisomy 13 (T13) remain controversial. Here, we describe the current medical procedures and outcomes of patients with T18 and T13 from a nationwide administrative database of hospitalized patients in Japan. We used the database to identify eligible patients with T18 (n = 438) and T13 (n = 133) who were first admitted to one of 200 hospitals between July 2010 and March 2013. Patients were divided into admission at day <7 (early neonatal) and admission at day ≥7 (late neonatal and post neonatal) groups, and we described the medical intervention and status at discharge for each group. In the day <7 groups, surgical interventions were performed for 56 (19.9%) T18 patients and 22 (34.4%) T13 patients, including pulmonary artery banding, and procedures for esophageal atresia and omphalocele. None received intracardiac surgery. The rate of patients discharged to home was higher in the day ≥7 groups than the day <7 groups (T18: 72.6 vs. 38.8%; T13: 73.9 vs. 21.9%, respectively). Our data show that a substantial number of patients with trisomy received surgery and were then discharged home, but, of these, a considerable number required home medical care. This included home oxygen therapy, home mechanical ventilation, and tube feeding. These findings will be useful to clinicians or families who care for patients with T18 and T13.

Evaluation of two glucose meters and interference corrections for screening neonatal hypoglycemia.

BACKGROUND: Many neonatal intensive care and maternal units still use self-monitoring of blood glucose (SMBG) devices as a tool to aid diagnosis despite the introduction of point-of-care testing (POCT) devices, which are known to have higher accuracy. We evaluated the performance of two glucose meters, the StatStrip (Nova Biomedical), a POCT device, and the Medisafe Mini (Terumo), an SMBG device, to detect hypoglycemia in neonates. In addition, we evaluated the interference of hematocrit, acetaminophen and ascorbic acid. METHODS: Whole blood samples were drawn from neonates who were at risk of hypoglycemia and analyzed with the StatStrip and Medisafe Mini. The results were further confirmed with blood gas analyzers ABL825 and BM6050. To evaluate the interference of hematocrit, acetaminophen and ascorbic acid, concentrated solutions of glucose and interfering substances were gravimetrically prepared and analyzed. RESULTS: Among the 222 blood samples analyzed, results from the StatStrip were more closely aligned to those of the ABL825 at all levels of glucose than the Medisafe Mini. CONCLUSION: StatStrip appears to be unaffected by hematocrit, ascorbic acid or acetaminophen. We recommend its use in neonates in hospital. Further studies are required to identify other interference effects.

Risk of respiratory syncytial virus infection in infants with congenital cystic lung disease.

BACKGROUND: Congenital cystic lung disease (CCLD), which includes congenital cystic adenomatoid malformation, bronchopulmonary sequestration, and congenital lobar emphysema, has been reported to increase the risk of recurrent respiratory infection. In particular, respiratory syncytial virus (RSV) causes severe lower respiratory tract disease in high-risk infants. The objective of this study was to investigate the risk of severe RSV infection in infants with CCLD. METHODS: Infants antenatally diagnosed as having CCLD and admitted to a neonatal intensive care unit at the National Center for Child Health and Development in Tokyo between September 2002 and October 2011 were included in this study. We investigated retrospectively whether the infants were hospitalized with RSV infection by 24 months of age using their medical records. RESULTS: Forty-eight infants were antenatally diagnosed as having CCLD. Of the 48 infants, four (8.3%) were hospitalized with RSV infection by 24 months of age. CONCLUSIONS: Infants with CCLD have increased risk of severe RSV infection.

Impact of the histological type on the prognosis of patients with prenatally diagnosed sacrococcygeal teratomas: the results of a nationwide Japanese survey.

PURPOSE: To identify the impact of the histological diagnosis on the prognosis of prenatally diagnosed sacrococcygeal teratoma (SCT), we analyzed the data obtained during prenatal surveillance and assessed the postnatal outcomes in a large cohort of fetuses with SCT in Japan. METHODS: A nationwide retrospective cohort study was conducted among 97 fetuses prenatally diagnosed with SCT between 2000 and 2009. Of these, 84 had a histological diagnosis. In addition, we conducted a second surveillance program of the prognosis of 72 patients who were reported to be alive at the initial surveillance conducted 2 years previously. RESULTS: The tumors comprised 51 (61 %) mature teratomas, 33 (39 %) immature teratomas and 0 (0 %) malignant teratomas. Immature teratomas were also associated with a significantly higher mortality rate (immature teratomas: 8/31, mature teratomas: 2/48). Late recurrence was observed in six of 72 cases (8.3 %). Among these six cases, recurrence with a malignant component was observed in four patients. All six patients were successfully treated. CONCLUSIONS: Mature teratoma was the most common histological type observed in this study. The patients with immature teratomas exhibited an increased risk of mortality. Late recurrence was observed in 8.3 % of the cases.

Outcomes of prenatally diagnosed sacrococcygeal teratomas: the results of a Japanese nationwide survey.

BACKGROUND/PURPOSE: Few large multicenter surveys have been performed on sacrococcygeal teratomas (SCTs) describing both the prenatal and postnatal courses. The aim of this study was to review and report on the prenatal surveillance and postnatal outcome of a large cohort of fetuses with SCTs in Japan. METHODS: A nationwide retrospective cohort study was conducted on 97 fetuses prenatally diagnosed with SCTs between 2000 and 2009. The prenatal course, perinatal data, and postnatal outcome were reviewed. RESULTS: Eleven pregnancies were terminated before 22 weeks of gestation. Of the 86 remaining fetuses, 3 died in utero, and 83 were delivered. Three infants died before surgery, and 8 infants died after excisional surgery. The overall mortality was 26%, with a mortality excluding terminations of 16%. The gestational age at delivery was younger than 28 weeks in 5, 28 to 31 weeks in 13, 32 to 36 weeks in 27, and 37 weeks or more in 37 cases, with mortality rates of 60%, 38%, 11%, and 0%, respectively. The tumor component was predominantly cystic in 54 and predominantly solid in 32 cases, with mortality rates of 2% and 33%, respectively. CONCLUSIONS: The overall mortality of prenatally diagnosed SCTs excluding terminations was 16%. Early delivery and predominantly solid component tumors were associated with an increased risk of mortality.

Persistent pulmonary hypertension of the newborn in twin-twin transfusion syndrome following fetoscopic laser surgery.

OBJECTIVE: We investigated persistent pulmonary hypertension of the newborn (PPHN) among monochorionic-diamniotic (MD) twins. METHODS: A retrospective cohort study examined MD twins from 195 deliveries and 373 live-born neonates at our center. RESULTS: PPHN occurred in three cases (3/373: 0.8%), all of which were recipients of twin-twin transfusion syndrome (TTTS), after fetoscopic laser surgery (FLS) (3/117: 2.6%). Although the clinical course of the three cases differed, all cardiothoracic area ratios exceeded 40%, and other cardiac parameters also worsened after FLS. CONCLUSIONS: The occurrence of PPHN in TTTS recipients should be noted, particularly when fetal cardiac function declines following FLS.

Prenatal risk stratification for isolated congenital diaphragmatic hernia: results of a Japanese multicenter study.

BACKGROUND/PURPOSE: The aim of this study was to establish a prenatal prognostic classification system for risk-stratified management in fetuses with isolated congenital diaphragmatic hernia (CDH). METHODS: A multi-institutional retrospective cohort study of isolated CDH, diagnosed prenatally in fetuses delivered during the 2002 to 2007 period at 5 participating institutions in Japan, was conducted. The risk stratification system was formulated based on the odds ratios of prenatal parameters for mortality at 90 days. The clinical severity in CDH infants were compared among the stratified risk groups. RESULTS: Patients were classified into the 3 risk groups: group A (n = 48) consisted of infants showing liver-down with contralateral lung-to-thorax transverse area ratio (L/T) ratio ≥0.08; group B of infants showing liver-down with L/T ratio <0.08 or liver-up with L/T ratio ≥0.08 (n = 35), and group C of infants showing liver-up with L/T ratio <0.08 (n = 20). The mortality at 90 days in groups A, B, and C were 0.0%, 20.0%, and 65.0%, respectively. The intact discharge rates were 95.8%, 60.0%, and 5.0%, respectively. This system also accurately reflected the clinical severity in CDH infants. CONCLUSIONS: Our prenatal risk stratification system, which demonstrated a significant difference in postnatal status and final outcome, would allow for accurate estimation of the severity of disease in fetuses with isolated CDH, although it needs prospective validation in a different population.

The Japanese experience with prenatally diagnosed congenital diaphragmatic hernia based on a multi-institutional review.

PURPOSE: To review the recent Japanese experience with prenatally diagnosed congenital diaphragmatic hernia (CDH) based on a multi-institutional survey. METHODS: A multicenter, retrospective cohort study was conducted on 117 patients born between 2002 and 2007 with isolated prenatally diagnosed CDH. All patients were managed by maternal transport, planned delivery, immediate resuscitation and gentle ventilation. The primary outcome measurements were the 90-day survival and intact discharge. The examined prenatal factors included gestational age (GA) at diagnosis, lung-to-head ratio (LHR), lung-to-thorax transverse area ratio (L/T) and liver position. Physical growth and motor/speech development were evaluated at 1.5 and 3 years of age. Data were expressed as the median (range). RESULTS: The mean GA at diagnosis was 29 (17-40) weeks. The LHR and L/T were 1.56 (0.37-4.23) and 0.11 (0.04-0.25), respectively. There were 48 patients with liver up. The mean GA at birth was 38 (28-42) weeks. The 90-day survival rate and intact discharge rate were 79 and 63%, respectively. Twelve patients had major morbidity at discharge, and 71% of these patients had physical growth or developmental retardation at 3 years of age. CONCLUSION: This multicenter study demonstrated that the 90-day survival rate of isolated prenatally diagnosed CDH was 79%, and that subsequent morbidity remained high. A new treatment strategy is needed to reduce the mortality and morbidity of severe CDH.

Reliability of the lung to thorax transverse area ratio as a predictive parameter in fetuses with congenital diaphragmatic hernia.

PURPOSE: An accurate prenatal assessment of the patients' severity is essential for the optimal treatment of individuals with congenital diaphragmatic hernia (CDH). The purpose of this study was to clarify the reliability of the lung to thorax transverse area ratio (L/T) as a prenatal predictive parameter. METHODS: A multicenter retrospective cohort study was conducted on 114 isolated CDH fetuses with a prenatal diagnosis during the period between 2002 and 2007 at five participating centers in Japan. The relationship between the gestational age and the L/T was analyzed. The most powerful measurement point and accurate cutoff value of the L/T was determined by an analysis of a receiver operating characteristic curve, which was verified by comparing the patients' severity. RESULTS: There was a negative correlation between the gestational age and the L/T in the non-survivors, and no correlation in the survivors. There were significant differences in the parameters which represented the patients' severity including the respiratory and circulatory status, the surgical findings, and the final outcomes between the groups divided at 0.080 in the minimum value of the L/T during gestation. CONCLUSION: The L/T was not strongly influenced by the gestational age, and it was found to be a reliable prenatal predictive parameter in fetuses with isolated CDH.

Reversible Atrioventricular Block and Junctional Ectopic Tachycardia in Coxsackievirus B3-Induced Fetal-Neonatal Myocarditis without Left Ventricular Dysfunction.

We present a case of fetal-neonatal acute myocarditis caused by coxsackievirus B3 infection in a term neonate. The condition manifested as high-grade atrioventricular (A-V) block prenatally. After delivery, various arrhythmias such as high-grade A-V block, ventricular tachycardia, and junctional ectopic tachycardia appeared, and we had difficulty managing these arrhythmias. This is the first report describing a case of acute myocarditis due to coxsackievirus infection presenting with fetal A-V block. This case is also unique in that it is extremely rare that various arrhythmias occur serially in one patient without left ventricular dysfunction.

Risk factors for elevation of ABR threshold in NICU-treated infants.

OBJECTIVE: Several risk factors for hearing impairment among infants treated in the neonatal intensive care unit (NICU) have been reported, but there have been few studies that show the correlation strength between the risk factors in NICU-treated infants and hearing impairment in childhood. The aim of this study was to clarify the relationship between risk factors in NICU-treated infants and a deteriolation of auditory brainstem response (ABR) threshold in their childhood. METHODS: One hundred one NICU-treated infants with ABR threshold of 50 dBnHL or more underwent 2nd ABR test at 20 months after delivery. Multiple regression analysis was performed with ABR threshold change as an objective variable and risk factors as explanatory variables. RESULTS: Two ABR tests of the 101 infants resulted in that 7 showed an elevation of ABR threshold by 20 dB, 70 showed a drop of ABR threshold by 20 dB, and 24 showed no significant change. Multiple regression analysis revealed that the factors contributing to the elevation of ABR threshold were congenital diaphragmatic hernia, severe respiratory disease, and a high C-reactive protein (CRP) level. CONCLUSIONS: In the infants treated in NICU, an incidence of ABR threshold of 50 dBnHL or more was 9.0%, and 6.9% of the infants with the ABR threshold abnormality showed a significant elevation of ABR threshold in their childhood. Factors significantly related to an elevation of ABR threshold were a history of congenital diaphragmatic hernia, severe respiratory disease, and elevation of CRP. In infants with such factors, periodical examination of hearing is required.

Is a 6-week course of ganciclovir therapy effective for chorioretinitis in infants with congenital cytomegalovirus infection?

Effective treatment for chorioretinitis caused by congenital cytomegalovirus (CMV) infection remains unknown. We report an infant with congenital CMV infection, who required a 6-month course of antiviral therapy to control his chorioretinitis. Long-term treatment may be necessary for managing congenital CMV-associated chorioretinitis.

Bifidobacterium septicemia associated with postoperative probiotic therapy in a neonate with omphalocele.

We report the one case of sepsis caused by Bifidobacterium breve administered as probiotic therapy. Probiotics can be a potential cause of an invasive disease and should be used with care in vulnerable patients.

Evaluating mortality and disease severity in congenital diaphragmatic hernia using the McGoon and pulmonary artery indices.

PURPOSE: Lung hypoplasia is associated with mortality in congenital diaphragmatic hernia (CDH). However, the association between lung hypoplasia and disease severity is unclear. Early prediction of disease severity would provide parents with more precise information about the anticipated course of treatment, minimize treatment disruption, and maximize the efficient management of patients with CDH. We aimed at identifying the relationship between McGoon index (MGI) and pulmonary artery index (PAI) scores and disease severity among infants with CDH. METHODS: We retrospectively reviewed the medical records of 19 high-risk patients with CDH born between January 2006 and December 2007. McGoon index and PAI scores were determined on admission. We evaluated statistically the relationship between these scores and variables representing severity as follows: number of vasodilators, use of inhaled nitric oxide (iNO), closed method of diaphragm, duration of intubation, duration of hospitalization, and use of home oxygen therapy. Statistical significance was P < .05. RESULTS: Overall median MGI and PAI scores were 1.40 and 108, respectively; scores for nonsurvivors were significantly (P < .05 and P < .01, respectively) lower than those for survivors. Among survivors, PAI scores were significantly (P < .05) lower in infants requiring iNO than in infants not requiring iNO and patch repair. The PAI scores were significantly correlated with the number of vasodilators (r = -0.789; P < .01) and duration of intubation (r = -0.610; P < .05). CONCLUSIONS: McGoon index (cutoff value, 1.31) and PAI (cutoff value, 90) are reliable indices for predicting mortality in CDH. Pulmonary artery index appears to be more useful than MGI for predicting disease severity among survivors.

An association of gastroschisis and fatal respiratory distress: does prenatal bile aspiration cause early-onset respiratory failure in neonates?

We present a neonate with gastroschisis and evidence of bile aspiration in utero, who developed severe respiratory distress that did not respond to postnatal intensive respiratory care. Although rare, a newborn with gastroschisis may develop severe respiratory distress due to bile aspiration in utero. Given the poor outcome in this case, we suggest a possible role for prenatal diagnosis and therapy.