Obesity and febrile urinary tract infection in young children.

BACKGROUND: Obesity is a risk factor for infectious diseases. However, the relationship between obesity and febrile urinary tract infection (fUTI) is controversial. This study aimed to determine the relationship between obesity and fUTI in young children. METHODS: We analyzed the medical records of children aged <2 years who were admitted to our hospital because of fever between April 2013 to March 2018. The children were categorized into three groups of non-obese, overweight, and obese according to the World Health Organization weight-for-length curves for children aged <2 years. RESULTS: A total of 600 patients were enrolled in this study, of whom 118 were diagnosed with first fUTI. Patients in the fUTI group were younger than those in the control group (patients who were diagnosed with other febrile diseases) (5 ± 5.11 vs 11 ± 6.53 months; P < 0.001). There were no significant differences in the populations of overweight and obese children between the fUTI and control groups. In the fUTI group, the duration of fever, types of pathogen, recurrent rate, the grades of vesicoureteral reflux, and renal scarring were not associated with obesity. The white blood cell count and C-reactive protein levels were not significantly different among the three weight-for-length categories. The same results were obtained when the fUTI group was compared with an age-matched control group (n = 192, 4 ± 2.55 months old; P = 0.261). CONCLUSIONS: Obesity is not a significant risk factor for fUTI in febrile hospitalized young children. Our study suggests that conducting urinalysis for febrile young children without obvious sources, irrespective of obesity, should be considered.

Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.

Cerebellar ataxia is a genetically heterogeneous disorder. GEMIN5 encoding an RNA-binding protein of the survival of motor neuron complex, is essential for small nuclear ribonucleoprotein biogenesis, and it was recently reported that biallelic loss-of-function variants cause neurodevelopmental delay, hypotonia, and cerebellar ataxia. Here, whole-exome analysis revealed compound heterozygous GEMIN5 variants in two individuals from our cohort of 162 patients with cerebellar atrophy/hypoplasia. Three novel truncating variants and one previously reported missense variant were identified: c.2196dupA, p.(Arg733Thrfs*6) and c.1831G > A, p.(Val611Met) in individual 1, and c.3913delG, p.(Ala1305Leufs*14) and c.4496dupA, p.(Tyr1499*) in individual 2. Western blotting analysis using lymphoblastoid cell lines derived from both affected individuals showed significantly reduced levels of GEMIN5 protein. Zebrafish model for null variants p.(Arg733Thrfs*6) and p.(Ala1305Leufs*14) exhibited complete lethality at 2 weeks and recapitulated a distinct dysplastic phenotype. The phenotypes of affected individuals and the zebrafish mutant models strongly suggest that biallelic loss-of-function variants in GEMIN5 cause cerebellar atrophy/hypoplasia.

Evaluation of technical performance of optical surface imaging system using conventional and novel stereotactic radiosurgery algorithms.

The Catalyst HD (C-RAD Positioning AB, Uppsala, Sweden) optical surface imaging (OSI) system is able to manage interfractional patient positioning, intrafractional motion monitoring, and non-contact respiratory gating without x-ray exposure for radiation therapy. In recent years, a novel high-precision surface registration algorithm for stereotactic radiosurgery (SRS algorithm) has been released. This study aimed to evaluate the technical performance of the OSI system using rigid phantoms, by comparing the conventional and SRS algorithms. To determine the system's technical performance, isocenter displacements were calculated by surface image registration via the OSI system using head, thorax, and pelvis rigid phantoms. The reproducibility of positioning was evaluated by the mean value calculated by repeating the registration 10 times, without moving each phantom. The accuracy of positioning was evaluated by the mean value of the residual error, where the 10 offset values given to each phantom were subtracted from the isocenter displacement values. The stability of motion monitoring was evaluated by measuring isocenter drift during 20 min and averaging it over 10 measurements. For the head phantom, all tests were compared with the mask types and algorithms. As a result, for all sites and both algorithms, the reproducibility, accuracy, and stability for translation and rotation were <0.1 mm and <0.1°, <1.0 mm and <1.0°, and <0.1 mm and <0.1°, respectively. In particular, the SRS algorithm had a small absolute error and standard deviation of calculated isocenter displacement, and a significantly higher reproducibility and accuracy than the conventional algorithm (P < 0.01). There was no difference in the stability between the algorithms (P = 0.0280). The SRS algorithm was found to be suitable for the treatment of rigid body sites with less deformation and small area, such as the head and face.

Effect of an integral quality monitor on 4-, 6-, 10-MV, and 6-MV flattening filter-free photon beams.

PURPOSE: To investigate the effect of an integral quality monitor (IQM; iRT Systems GmbH, Koblenz, Germany) on 4, 6, 10, and 6-MV flattening filter-free (FFF) photon beams. METHODS: We assessed surface dose, PDD20,10 , TPR20,10 , PDD curves, inline and crossline profiles, transmission factor, and output factor with and without the IQM. PDD, transmission factor, and output factor were measured for square fields of 3, 5, 10, 15, 20, 25, and 30 cm and profiles were performed for square fields of 3, 5, 10, 20, and 30 cm at 5-, 10-, and 30-cm depth. RESULTS: The differences in surface dose of all energies for square fields of 3, 5, 10, 15, 20, and 25 cm were within 3.7% whereas for a square field of 30 cm, they were 4.6%, 6.8%, 6.7%, and 8.7% for 4-MV, 6-MV, 6-MV-FFF, and 10-MV, respectively. Differences in PDD20,10 , TPR20,10 , PDD, profiles, and output factors were within ±1%. Local and global gamma values (2%/2 mm) were below 1 for PDD beyond dmax and inline/crossline profiles in the central beam region, respectively. The gamma passing rates (10% threshold) for PDD curves and profiles were above 95% at 2%/2 mm. The transmission factors for 4-MV, 6-MV, 6-MV-FFF, and 10-MV for field sizes from 3 × 3 to 30 × 30 cm2 were 0.926-0.933, 0.937-0.941, 0.937-0.939, and 0.949-0.953, respectively. CONCLUSIONS: The influence of the IQM on the beam quality (in particular 4-MV X-ray has not verified before) was tested and introduced a slight beam perturbation at the surface and build-up region and the edge of the crossline/inline profiles. To use IQM in pre- and intra-treatment quality assurance, a tray factor should be put into treatment planning systems for the dose calculation for the 4-, 6-, 10-, and 6-MV flattening filter-free photon beams to compensate the beam attenuation of the IQM detector.

Impact of the Omicron Strain on Febrile Convulsions Requiring Hospitalization in Children: A Single-Center Observational Study.

BACKGROUND: The emergence of the Omicron strain of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) at the end of December 2021 has drastically increased the number of infected children in Japan, along with the number of children with febrile convulsions, but its clinical impact is unclear. MATERIALS AND METHODS: We compared the frequency of SARS-CoV-2 infection in children hospitalized with febrile convulsions with the frequency of SARS-CoV-2 infection in children with fever and respiratory symptoms without convulsions. RESULTS: In 2021 and 2022, 49 and 58 children required emergency hospitalization for febrile convulsions (FC group) with status epilepticus or cluster spasms, in which 24 and 38 children underwent a Filmarray® respiratory panel test (FA test), respectively, and others received a quantitative antigen test for SARS-CoV-2. In 2022, only six patients tested positive for SARS-CoV-2 (10.3%, 6/58). As a reference group, 655 children aged <10 years who underwent the FA test for fever and respiratory symptoms during the same period were investigated, and 4 (1.8%, 4/223) and 42 (9.7%, 42/432) tested positive for SARS-CoV-2 in 2021 and 2022, respectively. Rhinovirus/enterovirus (RV/EV) was the most frequently detected virus (40.3%, 264/655), followed by respiratory syncytial virus (RSV) (18.9%, 124/655) and parainfluenza virus 3 (PIV3) (7.8%, 51/655). There was no significant difference in the trend of detected viruses between the two groups. CONCLUSIONS: The frequency and severity of febrile convulsions requiring hospitalization associated with SARS-CoV-2 infection of the Omicron strain may be similar to that of other respiratory viruses in children.

Extracellular enzymes secreted in the mycelial block of Lentinula edodes during hyphal growth.

Lentinula edodes (shiitake mushroom) is one of the most widely cultivated edible mushrooms and is primarily cultivated using sawdust medium. While there have been improvements in the cultivation technology, the mechanism of mycelial block cultivation, such as mycelial growth and enzymatic sawdust degradation, has not been clarified. In this study, the mycelium was elongated longitudinally in the bottle sawdust culture for 27 days, and the cultivated sawdust medium was divided into three sections (top, middle, and bottom parts). To determine spatial heterogeneity in the enzyme secretion, the enzymatic activities of each part were analyzed. Lignocellulose degradation enzymes, such as endoglucanase, xylanase, and manganese peroxidase were highly secreted in the top part of the medium. On the other hand, amylase, pectinase, fungal cell wall degradation enzyme (ß-1,3-glucanase, ß-1,6-glucanase, and chitinase), and laccase activities were higher in the bottom part. The results indicate that the principal sawdust degradation occurs after mycelial colonization. Proteins with the laccase activity were purified from the bottom part of the medium, and three laccases, Lcc5, Lcc6 and Lcc13, were identified. In particular, the expression of Lcc13 gene was higher in the bottom part compared with the level in the top part, suggesting Lcc13 is mainly produced from the tip region and have important roles for mycelial spread and nutrient uptake during early stage of cultivation.

Sensitivity of a bone-equivalent polymer gel dosimeter for measuring the dose to bone during radiation therapy.

Treatment planning systems that use the Monte Carlo algorithm can calculate the dose to the medium (Dm) in non-water-equivalent tissues such as bones. However, Dm cannot be verified using actual measurements; therefore, it is necessary to develop tissue-equivalent dosimeters. In this study, we developed a bone-equivalent polymer gel dosimeter (BPGD) that can measure the dose absorbed by the bone and investigated its sensitivity. The BPGDs were prepared by adding 3.0 mol of calcium hydrogen phosphate dihydrate as a component of bone to an improved dose-sensitive polyacrylamide gelatin and tetrakis hydroxymethyl phosphonium chloride (iPAGAT). One day after preparation, the BPGDs were irradiated with a field size of 15 × 15 cm2 using a 10 MV X-ray beam to evaluate the dose sensitivity, dose-rate dependence, and dose-integration dependence. One day after dose exposure, the BPGDs were scanned using a 0.4 T MRI APERTO Eterna (Hitachi, Tokyo, Japan) to obtain R2 values. The difference between the R2 values of 6 Gy and 0 Gy was up to 5 s-1, and the R2 curve plateaued in the high-dose region. Moreover, the BPGD did not depend on the integration of the dose and dose rates. Therefore, the BPGDs that we developed can determine the radiation dose to bones.

Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report.

BACKGROUND: Spinocerebellar ataxia type 5 (SCA5), a dominant spinocerebellar ataxia is caused by spectrin beta nonerythrocytic 2 gene (SPTBN2) mutation. It typically consists of a slow progressive cerebellar ataxia with an onset principally in adulthood. Here, we report on the first Japanese patient with infantile-onset SCA5 associated with a novel heterozygous SPTBN2 mutation. CASE REPORT: The patient, a 6-year-old girl, developed delayed motor development and unsteady arm movement during infancy. She also showed gaze-evoked nystagmus, saccadic eye pursuit, dysarthria, dysmetria, intention tremor and mild intellectual disability. Brain MRI revealed moderate cerebellar atrophy and mild pontine atrophy. Comprehensive target capture sequencing to identify the causative gene identified a novel missense mutation in SPTBN2 (c.1309C

JunD suppresses bone formation and contributes to low bone mass induced by estrogen depletion.

JunD is an activator protein-1 (AP-1) component though its function in skeletal system is still not fully understood. To elucidate the role of JunD in the regulation of bone metabolism, we analyzed JunD-deficient mice. JunD deficiency significantly increased bone mass and trabecular number. This bone mass enhancement was due to JunD deficiency-induced increase in bone formation activities in vivo. Such augmentation of bone formation was associated with simultaneous increase in bone resorption while the former was dominant over the latter as accumulation of bone mass occurred in JunD-deficient mice. In a pathological condition relevant to postmenopausal osteoporosis, ovariectomy reduced bone mass in wild type (WT) mice as known before. Interestingly, JunD deficiency suppressed ovariectomy-induced increase in bone resorption and kept high bone mass. In addition, JunD deficiency also enhanced new bone formation after bone marrow ablation. Examination of molecular bases for these observations revealed that JunD deficiency enhanced expression levels of c-jun, fra-1, and fra-2 in bone in conjunction with elevated expression levels of runx2, type I collagen, and osteocalcin. Thus, JunD is involved in estrogen depletion-induced osteopenia via its action to suppress bone formation and to enhance bone resorption.

Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency.

We report the case of an 18-year-old man with a phosphoglycerate kinase (PGK) deficiency who had slowly progressive leukodystrophy during adolescence. The patient had a history of severe neonatal jaundice, hemolytic crisis with rhabdomyolysis triggered by febrile viral infections, dysarthria, and intellectual disability during early childhood. Clumsiness in walking and writing became obvious at ∼10years of age. Evaluations performed by us on the 18-year-old patient confirmed the presence of pyramidal tract signs, increased muscle tone, and generalized dystonia. Brain magnetic resonance (MR) imaging revealed leukodystrophy in the periventricular white matter, posterior limbs of the internal capsule, dorsal pons, and middle cerebellar peduncles. Compared to MR images acquired at 9years of age, MR images acquired at 18years of age showed that the white matter atrophy had progressed. The PGK deficiency was diagnosed by identifying a known missense mutation in PGK1 (c.1060G>C) through comprehensive target capture sequencing and by observing low PGK activity in his red blood cells. The patient underwent a ketogenic diet for 2weeks, which we expected would increase adenosine triphosphate levels through sources other than the PGK-associated glycolytic pathway. The diet was not tolerated owing to the unexpected emergence of hemolysis. Hemolytic anemia, neurological dysfunction, and myopathy are often associated with PGK deficiencies. However, leukodystrophy as a symptom of PGK deficiency has not been reported previously. Our case highlights the progressive nature of the neurological complications related to PGK deficiencies. Therefore, long-term follow-up is recommended, even if neurological impairments are not obvious during childhood.