Septic arthritis in childhood: A 24-year review.

BACKGROUND: We investigated the pathogenic, clinical, and laboratory characteristics of children diagnosed with septic arthritis (SA) during the past 24 years and identified the risk factors for SA-related sequelae. METHODS: We retrospectively reviewed the records of patients admitted to Fukuoka University Hospital from 1997 to 2020. Causative pathogens were compared between the first (1997-2008) and second (2009-2020) periods. We also compared the clinical and laboratory characteristics in patients with known or unknown pathogens, and in patients with or without sequelae. RESULTS: A total of 37 patients with SA were identified, including 28 patients (76%) in the first period and nine patients (24%) in the second period. Sixteen of 37 patients (43%) were younger than 2 years, including two neonates. Pathogens were identified in 25 (68%) of 37 patients. Patients with known pathogens had a significantly higher C-reactive protein level on admission than those with unknown pathogens (P < 0.05). The predominant pathogen was Staphylococcus aureus (38%, 14/37). Although S. aureus and Hemophilus influenzae type b (Hib) were predominant pathogens in the first period, Hib was not found in the second period. Six (16%) of 37 patients with SA experienced sequelae. Moreover, the risk factors for the development of sequelae were significantly associated with infection at age <1 month and delayed surgical treatment (>4 days). CONCLUSIONS: The incidence of SA had decreased dramatically in the second period, and Hib was no longer the predominant pathogen. Earlier surgical drainage should be performed in neonates with SA.

Invasive candidiasis in a neonatal intensive care unit in Fukuoka.

BACKGROUND: Invasive candidiasis (IC) is a leading cause of morbidity and mortality in preterm infants. The objective of this study was to determine the prevalence of IC infection in newborns in the neonatal intensive care unit (NICU) of a tertiary hospital in Japan, and to identify specific predisposing factors for IC. METHODS: We retrospectively collected data on demographics, clinical characteristics, and outcomes of infants with IC, who were discharged from a tertiary NICU in Japan between January 2009 and December 2020. We compared predisposing factors associated with the occurrence of early-onset IC (EOIC < 72 h) and late-onset IC (LOIC ≥ 72 h) with those of early-onset and late-onset bacterial sepsis. RESULTS: Between January 2009 and December 2020, 3,549 infants were admitted to the NICU, including 344 extremely-low birthweight (ELBW) infants. Eleven infants (including nine ELBW infants) had IC (incidence 0.31%), and the mortality rate of IC was 0%. Four (36%) infants had EOIC and seven (64%) had LOIC. All those with EOIC presented with skin lesions and 86% with LOIC had thrombocytopenia. Maternal vaginal Candida colonization was a more specific predisposing factor for EOIC, while gestational age <26 weeks, broad-spectrum antibiotic use, prior bacterial infection, prior gastrointestinal (GI) surgery, and GI diseases were more specific predisposing factors for LOIC. CONCLUSIONS: The findings suggest that maternal vaginal Candida colonization and skin lesions in ELBW infants may contribute to early recognition of EOIC. LOIC should be suspected if ELBW infants with several predisposing factors of LOIC have thrombocytopenia.

Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.

We report a boy with Desbuquois dysplasia type 1. He had the typical skeletal changes: a "Swedish key" appearance of the proximal femora; advanced carpal ossification and other distinctive features of the hand, including an extra-ossification center at the base of the proximal phalanx of the index and middle fingers; dislocation of the metacarpophalangeal joint of the index finger; and bifid distal phalanx of the thumb. In addition, he presented with very severe prenatal growth failure, respiratory distress as a neonate, subsequent failure to thrive and susceptibility to airway infection, and sudden death in early childhood. Molecular analysis identified homozygous 1 bp deletion in the Calcium-Activated Nucleotidase 1 gene (CANT1). To our knowledge, this is the first report of Desbuquois dysplasia type 1 in Japan. Our experience suggests potential lethality in the disorder.

An exploratory study to identify neonatal arterial ischemic stroke: A single-center study.

BACKGROUND: Neonatal arterial ischemic stroke (NAIS) presents as seizures, including convulsions, subtle seizures, and apnea, and most patients experience neurological sequelae. Diagnosis is often delayed owing to low test sensitivity. The present study aimed to identify the early clinical diagnostic factors for NAIS in neonates with seizures. METHODS: The present study included 54 patients born at ≥36 weeks of gestation during the last 15 years who presented to the neonatal intensive care unit with neonatal seizures and underwent brain magnetic resonance imaging (MRI), 6 of whom were diagnosed with NAIS. Maternal background, clinical characteristics, and transcranial pulsed Doppler sonography results were retrospectively reviewed. RESULTS: Of the 24 patients who presented with convulsions or subtle seizures, 3 (13%) were diagnosed with NAIS and 3 of 30 patients (10%) presented with apnea. Maternal premature ventricular contraction complications were higher in the NAIS group than in the non-NAIS group (p = 0.01). NAIS group showed lower mean middle cerebral artery (MCA) resistance index (RI) was lower the non-NAIS group (p = 0.009), while the left-right RI difference (p = 0.019), mean MCA blood velocity (MnV; p = 0.04), and left-right MnV difference (p < 0.001) in cerebral blood flow velocities (CBFVs) were higher in the NAIS group. CONCLUSIONS: Our results revealed that maternal arrhythmia may be a diagnostic factor for NAIS in neonates with seizures. Early brain MRI is essential in neonates with seizures and findings of low MCA-RI, high MCA-MnV, or high left-right difference in CBFVs to distinguish between NAIS and non-NAIS.

Impact of prematurity and the CTG repeat length on outcomes in congenital myotonic dystrophy.

OBJECTIVE: Patients with congenital myotonic dystrophy (CDM) tend to be born preterm. Although the CDM severity generally depends on the CTG repeat length, prematurity may also affect the prognosis in patients with CDM. Given that preterm birth is expected to increase the risk of CDM in newborns, we investigated the outcomes of newborns with CDM according to gestational age to assess prematurity and the CTG repeat length for predicting prognosis. RESULTS: We assessed the outcomes of 54 infants with CDM using data collected from our hospitals and previously published studies. The patients were divided into mild and severe groups based on clinical outcomes. Logistic regression analysis was performed to estimate odds ratios (ORs) for CDM prognosis according to gestational age and the CTG repeat length and to construct a predictive model. Logistic regression analysis showed both the CTG repeat and gestational age were significantly associated with severe outcomes in patients with CDM (OR: 32.27, 95% CI 3.45-300.7; p = 0.002 and OR: 0.73, 95% CI 0.58-0.93; p = 0.0094, respectively). This predictive model for CDM prognosis exhibited good sensitivity (63%) and specificity (86%). Both prematurity and the CTG repeat length were significantly associated with the CDM severity.

A partial supernumerary umbilical vein: a case report.

BACKGROUND: Abnormalities in the number of vessels can be found for both the umbilical artery and vein. We sometimes encounter cases of a decreased number of umbilical cord vessels, such as a single umbilical artery. In contrast, there may be an increase from three to four vessels within the umbilical cord. A supernumerary umbilical vein is particularly very rare, and it is generally found in combination with congenital anomalies. We report a case of a partial supernumerary umbilical vein. CASE PRESENTATION: The previous pregnancy of a 37-year-old healthy Japanese woman (gravida 2, para 1) had been uncomplicated, and the resulting child was alive and well. Prenatal examination at 36 weeks of gestation revealed the coexistence of a four-vessel part and a normal three-vessel part of the umbilical cord. A healthy female neonate weighing 2726 g was born at 38 weeks of gestation. The umbilical cord measured 40 cm in length; the four-vessel part continued to a distance of 18 cm from the surface of the infant's body, and the remaining umbilical cord comprised three vessels. On histological examination, the fetal side of the umbilical cord had two arteries and two veins, and the placental side had two arteries and one vein. Isolated supernumerary umbilical veins tend to be overlooked. We consider that it is important to evaluate the number of umbilical cord vessels in the second trimester using ultrasound combined with color Doppler in at least three sites: the insertion sites on both the fetal abdomen and placenta, and the free loop of the umbilical cord. CONCLUSIONS: Prenatal diagnosis of isolated supernumerary umbilical cord vessels tends to be overlooked. However, supernumerary vessels of the umbilical can be associated with fetal congenital anomalies. The number of vessels within the umbilical cord must be examined because the detection of such abnormalities may lead to the prenatal diagnosis of other congenital anomalies.

Identification and characterization of GCP16, a novel acylated Golgi protein that interacts with GCP170.

GCP170, a member of the golgin family associated with the cytoplasmic face of the Golgi membrane, was found to have a Golgi localization signal at the NH2-terminal region (positions 137-237). Using this domain as bait in the yeast two-hybrid screening system, we identified a novel protein that interacted with GCP170. The 2.0-kilobase mRNA encoding a 137-amino acid protein of 16 kDa designated GCP16 was ubiquitously expressed. Immunofluorescence microscopy showed that GCP16 was co-localized with GCP170 and giantin in the Golgi region. Despite the absence of a hydrophobic domain sufficient for participating in membrane localization, GCP16 was found to be tightly associated with membranes like an integral membrane protein. Labeling experiments with [3H]palmitic acid and mutational analysis demonstrated that GCP16 was acylated at Cys69 and Cys72, accounting for its tight association with the membrane. A mutant without potential acylation sites (C69A/C72A) was no longer localized to the Golgi, indicating that the acylation is prerequisite for the Golgi localization of GCP16. Although the mutant GCP16, even when overexpressed, had no effect on protein transport, overexpression of the wild type GCP16 caused an inhibitory effect on protein transport from the Golgi to the cell surface. Taken together, these results indicate that GCP16 is the acylated membrane protein, associated with GCP170, and possibly involved in vesicular transport from the Golgi to the cell surface.