Positron Generation and Acceleration in a Self-Organized Photon Collider Enabled by an Ultraintense Laser Pulse.

We discovered a simple regime where a near-critical plasma irradiated by a laser of experimentally available intensity can self-organize to produce positrons and accelerate them to ultrarelativistic energies. The laser pulse piles up electrons at its leading edge, producing a strong longitudinal plasma electric field. The field creates a moving gamma-ray collider that generates positrons via the linear Breit-Wheeler process-annihilation of two gamma rays into an electron-positron pair. At the same time, the plasma field, rather than the laser, serves as an accelerator for the positrons. The discovery of positron acceleration was enabled by a first-of-its-kind kinetic simulation that generates pairs via photon-photon collisions. Using available laser intensities of 10^{22} W/cm^{2}, the discovered regime can generate a GeV positron beam with a divergence angle of around 10° and a total charge of 0.1 pC. The result paves the way to experimental observation of the linear Breit-Wheeler process and to applications requiring positron beams.

Whole-Genome Sequencing of the NARO World Rice Core Collection (WRC) as the Basis for Diversity and Association Studies.

Genebanks provide access to diverse materials for crop improvement. To utilize and evaluate them effectively, core collections, such as the World Rice Core Collection (WRC) in the Genebank at the National Agriculture and Food Research Organization, have been developed. Because the WRC consists of 69 accessions with a high degree of genetic diversity, it has been used for >300 projects. To allow deeper investigation of existing WRC data and to further promote research using Genebank rice accessions, we performed whole-genome resequencing of these 69 accessions, examining their sequence variation by mapping against the Oryza sativa ssp. japonica Nipponbare genome. We obtained a total of 2,805,329 single nucleotide polymorphisms (SNPs) and 357,639 insertion-deletions. Based on the principal component analysis and population structure analysis of these data, the WRC can be classified into three major groups. We applied TASUKE, a multiple genome browser to visualize the different WRC genome sequences, and classified haplotype groups of genes affecting seed characteristics and heading date. TASUKE thus provides access to WRC genotypes as a tool for reverse genetics. We examined the suitability of the compact WRC population for genome-wide association studies (GWASs). Heading date, affected by a large number of quantitative trait loci (QTLs), was not associated with known genes, but several seed-related phenotypes were associated with known genes. Thus, for QTLs of strong effect, the compact WRC performed well in GWAS. This information enables us to understand genetic diversity in 37,000 rice accessions maintained in the Genebank and to find genes associated with different phenotypes. The sequence data have been deposited in DNA Data Bank of Japan Sequence Read Archive (DRA) (Supplementary Table S1).

pymzML v2.0: introducing a highly compressed and seekable gzip format.

Motivation: In the new release of pymzML (v2.0), we have optimized the speed of this established tool for mass spectrometry data analysis to adapt to increasing amounts of data in mass spectrometry. Thus, we integrated faster libraries for numerical calculations, improved data retrieving algorithms and have optimized the source code. Importantly, to adapt to rapidly growing file sizes, we developed a generalizable compression scheme for very fast random access and applied this concept to mzML files to retrieve spectral data. Results: pymzML performs at par with established C programs when it comes to processing times. However, it offers the versatility of a scripting language, while adding unprecedented fast random access to compressed files. Additionally, we designed our compression scheme in such a general way that it can be applied to any field where fast random access to large data blocks in compressed files is desired. Availability and implementation: pymzML is freely available on https://github.com/pymzML/pymzML under GPL license. pymzML requires Python3.4+ and optionally numpy. Documentation available on http://pymzml.readthedocs.io.

Electronic nematicity above the structural and superconducting transition in BaFe2(As(1-x)P(x))2.

Electronic nematicity, a unidirectional self-organized state that breaks the rotational symmetry of the underlying lattice, has been observed in the iron pnictide and copper oxide high-temperature superconductors. Whether nematicity plays an equally important role in these two systems is highly controversial. In iron pnictides, the nematicity has usually been associated with the tetragonal-to-orthorhombic structural transition at temperature T(s). Although recent experiments have provided hints of nematicity, they were performed either in the low-temperature orthorhombic phase or in the tetragonal phase under uniaxial strain, both of which break the 90° rotational C(4) symmetry. Therefore, the question remains open whether the nematicity can exist above T(s) without an external driving force. Here we report magnetic torque measurements of the isovalent-doping system BaFe(2)(As(1-x)P(x))(2), showing that the nematicity develops well above T(s) and, moreover, persists to the non-magnetic superconducting regime, resulting in a phase diagram similar to the pseudogap phase diagram of the copper oxides. By combining these results with synchrotron X-ray measurements, we identify two distinct temperatures-one at T*, signifying a true nematic transition, and the other at T(s) (

Change in oral health status associated with menopause in Japanese dental hygienists.

OBJECTIVES: Oral symptoms such as xerostomia and burning mouth syndrome have been recognized to increase associated with menopause. The purpose of this study was to clarify the changes in oral health as well as systemic health due to menopause and their relations with hormonal change and mental status. METHODS: Ninety-seven female dental hygienists aged 40-59 years were assigned to premenopausal, menopausal and post-menopausal groups based on self-reported menstrual condition. Subjective health statuses were evaluated by questionnaire, and objective holistic and oral statuses were evaluated by measuring serum 17ß-estradiol (E2), salivary flow rate, α-amylase and secretory IgA (SIgA) and taste sensitivity. RESULTS: A significant difference among the three groups was observed in the self-rating questionnaire of depression (SRQ-D) score and serum E2 level as well as unstimulated salivary flow rate, whereas no significant difference was observed in Simplified menopausal index, Short-Form 36-Item Health Survey, General Oral Health Assessment Index, salivary α-amylase activity, salivary SIgA concentration and taste threshold. Serum E2 levels positively correlated with unstimulated salivary flow rates and negatively correlated with SRQ-D scores and α-amylase activities. CONCLUSIONS: The results demonstrated a negative correlation between E2 levels and SRQ-D scores as well as salivary α-amylase activities, suggesting an influence of E2 on mental condition. Furthermore, E2 decrease may result in reduction of salivary flow which in turn causes various problems of oral health. Since the participants were graduates from several dental hygienist schools and working at various places, these results can be generalized to Japanese dental hygienists to some extent.

Investigation of in vitro parameters and fertility of mouse ovary after storage at an optimal temperature and duration for transportation.

STUDY QUESTION: How do the temperature and duration of storage affect ovaries during transportation? SUMMARY ANSWER: Fertility is reduced with the extension of the storage duration. WHAT IS KNOWN ALREADY: Live birth has been reported after ovarian transport overnight on ice before freezing ovarian tissue, but there have been no basic investigations of ovarian storage conditions focused on fertility. There are no guidelines on optimal ovarian storage conditions and the maximum storage time during transportation. STUDY DESIGN, SIZE AND DURATION: Experiments were performed using C57BL/6J mice. Ovaries of 4-week-old mice were harvested, stored at 4, 14, 37 °C or room temperature (RT) for 24 h, and subjected to histological examination. Next, ovaries were stored at 4 °C for 4, 8 or 24 h and subjected to histological examination. Then orthotopic transplantation of ovaries, stored at 4 °C for 4, 8 or 24 h, was performed in 6-week-old C57BL/6J mice, and fertility was assessed by in vitro fertilization and embryo transfer. Freshly harvested ovaries were used as controls for comparison with ovaries stored under the above-mentioned conditions and experiments were repeated at least three times. PARTICIPANTS/MATERIALS, SETTING AND METHODS: In experiments on the ovarian storage temperature, haematoxylin-eosin (HE) staining was performed for histological examination. In experiments on the storage duration, HE staining, the terminal deoxynucleotidyl transferase dUTP nick end labelling assay, Ki-67 staining and electron microscopy were performed, and the numbers of follicles were counted. Fertility was assessed from the number of oocytes, and the rates of fertilization, embryo development, implantation and live birth. MAIN RESULTS AND THE ROLE OF CHANCE: Histological changes were minimal after storage of ovaries at 4 °C for up to 24 h. At 4 °C, there were no significant changes in the number of MII oocytes, fertilization rate or blastocyst development rate with storage up to 24 h. The implantation rate was 82.7 ± 17.3% in the control group, while it was 82.2 ± 7.7, 14.6 ± 14.6 and 4.4 ± 4.4% after storage for 4, 8 or 24 h, respectively. After 8 or 24 h of storage, the implantation rate was significantly lower in than in the control group (P< 0.05). The rate of live pups was 24.8 ± 13.2% in the control group, while it was 23.9 ± 6.6, 4.2 ± 4.2 and 4.4 ± 4.4% after storage for 4, 8 or 24 h, respectively. After 8 or 24 h of storage, the rate of live pups was significantly lower than in the control group (P< 0.05). LIMITATIONS, REASONS FOR CAUTION: Further investigations are needed in mammals with ovaries of a similar size to human ovaries, and should include the assessment of fertility following transplantation of frozen and thawed ovaries. WIDER IMPLICATION OF THE FINDINGS: The present results suggest that prolonging the ovarian storage time reduces fertility in mice. Thus, ovaries should be frozen immediately after harvesting or transported as rapidly as possible to minimize damage. To allow young cancer patients to preserve fertility, regional medical centres need adequate ovarian tissue cryopreservation techniques. STUDY FUNDING/COMPETING INTERESTS: This study supported by Department of Obstetrics and Gynecology, St. Marianna University School of Medicine. The authors have no competing interests to declare.

New method of neck surface electromyography for the evaluation of tongue-lifting activity.

Elevation of the posterior part of the tongue is important for normal deglutition and speech. The purpose of this study was to develop a new surface electromyography (EMG) method to non-invasively and objectively evaluate activity in the muscles that control lifting movement in the posterior tongue. Neck surface EMG (N-EMG) was recorded using differential surface electrodes placed on the neck, 1 cm posterior to the posterior border of the mylohyoid muscle on a line orthogonal to the lower border of the mandible. Experiment 1: Three healthy volunteers (three men, mean age 37·7 years) participated in an evaluation of detection method of the posterior tongue lifting up movement. EMG recordings from the masseter, temporalis and submental muscles and N-EMG revealed that i) N-EMG was not affected by masseter muscle EMG and ii) N-EMG activity was not observed during simple jaw opening and tongue protrusion, revealing the functional difference between submental surface EMG and N-EMG. Experiment 2: Seven healthy volunteers (six men and one woman, mean age 27·9 years) participated in a quantitative evaluation of muscle activity. Tongue-lifting tasks were perfor-med, exerting a prescribed force of 20, 50, 100 and 150 gf with visual feedback. For all subjects, a significant linear relationship was observed bet-ween the tongue-lifting force and N-EMG activity (P < 0·01). These findings indicate that N-EMG can be used to quantify the force of posterior tongue lifting and could be useful to evaluate the effect of tongue rehabilitation in future studies.

Comparison of Volumetric and Diametric Analysis in Endovascular Repair of Descending Thoracic Aortic Aneurysm.

OBJECTIVES: The aim was to evaluate computed tomography angiography (CTA) volumetric and diametric analysis after endovascular repair of descending thoracic aortic aneurysms (DTAAs) and its correlation with and applicability for clinical follow up. METHODS: Fifty-four consecutive endovascular repairs for DTAA were retrospectively evaluated from 2008 to 2014. All patients underwent pre-operative CTA and at least one post-operative CTA at 6 months. Fifty-four pre-operative and 137 post-operative CTAs were evaluated (using the Ziosoft 2 software) to analyze the aneurysm and thrombus volume, the maximum aneurysm diameter, and their changes at the last follow up CTA (mean 30.5 months; range 6.5-66.4 months). A statistical analysis was performed to assess the correlation between diameter and volume changes, as well as association with endoleaks. The cut off point to predict endoleaks was determined using a receiver operating characteristic (ROC) curve. The predictive accuracy of volume change versus diameter change for Type I endoleak was analyzed. RESULTS: The mean pre-operative aneurysm diameter, aneurysm volume, and thrombus volume were 56.7 ± 11.7 mm, 145.8 ± 120.0 mL, and 48.8 ± 54.8 mL, respectively. Within the observational period, a mean decrease of -27.9 ± 30.5% in the aortic volume and -15.9 ± 15.4% in diameter was observed. Correlation between aneurysm diameter and volume changes was good (r = 0.854). Volume and diameter changes were significantly different between groups with and without endoleaks (volume change 16.9 ± 38.8% vs. -35.6 ± 23.1%, p < .001; diameter change 8.0 ± 12.1% vs. -18.8 ± 14.3%, p < .001). A pre-operative thrombus volume percentage of <11.3% and increase in aneurysm volume +11.6% were predictive factors for Type II and Type I endoleak, respectively. The accuracy of a >10% volume increase in predicting a Type I endoleak was higher (accuracy 96.3%, sensitivity 75%, and specificity 98%) than a >5 mm diameter increase (accuracy 92.6%, sensitivity 25%, and specificity 98%). CONCLUSIONS: CT volumetric analysis is a more reliable modality for predicting endoleaks after endovascular repair for DTAA than diameter analysis.

A novel automated detection system for swallowing sounds during eating and speech under everyday conditions.

The wave analysis of swallowing sounds has been receiving attention because the recording process is easy and non-invasive. However, up until now, an expert has been needed to visually examine the entire recorded wave to distinguish swallowing from other sounds. The purpose of this study was to establish a methodology to automatically distinguish the sound of swallowing from sound data recorded during a meal in the presence of everyday ambient sound. Seven healthy participants (mean age: 26·7 ± 1·3 years) participated in this study. A laryngeal microphone and a condenser microphone attached to the nostril were used for simultaneous recording. Recoding took place while participants were taking a meal and talking with a conversational partner. Participants were instructed to step on a foot pedal trigger switch when they swallowed, representing self-enumeration of swallowing, and also to achieve six additional noise-making tasks during the meal in a randomised manner. The automated analysis system correctly detected 342 out of the 352 self-enumerated swallowing events (sensitivity: 97·2%) and 479 out of the 503 semblable wave periods of swallowing (specificity: 95·2%). In this study, the automated detection system for swallowing sounds using a nostril microphone was able to detect the swallowing event with high sensitivity and specificity even under the conditions of daily life, thus showing potential utility in the diagnosis or screening of dysphagic patients in future studies.

Image analysis of food particles can discriminate deficient mastication of mixed foodstuffs simulating daily meal.

Because food texture is regarded as an important factor for smooth deglutition, identification of objective parameters that could provide a basis for food texture selection for elderly or dysphagic patients is of great importance. We aimed to develop an objective evaluation method of mastication using a mixed test food comprising foodstuffs, simulating daily dietary life. The particle size distribution (>2 mm in diameter) in a bolus was analysed using a digital image under dark-field illumination. Ten female participants (mean age ± s.d., 27·6 ± 2·6 years) masticated a mixed test food comprising prescribed amounts of rice, sausage, hard omelette, raw cabbage and raw cucumber with 100%, 75%, 50% and 25% of the number of their masticatory strokes. A single set of coefficient thresholds of 0·10 for the homogeneity index and 1·62 for the particle size index showed excellent discrimination of deficient masticatory conditions with high sensitivity (0·90) and specificity (0·77). Based on the results of this study, normal mastication was discriminated from deficient masticatory conditions using a large particle analysis of mixed foodstuffs, thus showing the possibility of future application of this method for objective decision-making regarding the properties of meals served to dysphagic patients.

Relationship between age-related changes in mandibular third molar roots and the possibility of mental nerve paresthesia after tooth extraction.

Mental nerve paresthesia is a serious postoperative complication of mandibular third molar extraction. It appears that no study has examined the relationship between the surface morphology of the mandibular third molar roots and the possibility of mental nerve paresthesia following tooth extraction. Therefore, the root morphology of the mandibular third molars was examined according to age using dental cone beam computed tomography (CBCT), and the possibility of mental nerve paresthesia following tooth extraction was evaluated. The study included 1216 patients who had undergone mandibular third molar extractions. The root morphology of 1534 teeth in 791 patients who had CBCT performed before surgery was studied. Factors evaluated were age, complete or incomplete formation of the mandibular third molar roots, periodontal ligament atrophy of the mandibular third molar roots, hypercementosis, and mandibular canal deformation. Mandibular third molar root formation was completed between the ages of 19 and 30 years. Complete formation of the mandibular third molar roots (P = 0.002) and deformation of the mandibular canal (P < 0.001) were identified as risk factors for mental nerve paresthesia. These findings suggest that the risk of mental nerve paresthesia could be reduced if the extraction of third molars is performed prior to complete root formation.

Withaferin A inhibits pro-inflammatory cytokine-induced damage to islets in culture and following transplantation.

AIMS/HYPOTHESIS: Beta cell death triggered by pro-inflammatory cytokines plays a central role in the pathogenesis of type 1 diabetes and loss of transplanted islets. The nuclear factor κB (NF-κB) signalling pathway is a key regulator of beta cell stress response, survival and apoptosis. Withaferin A (WA), a steroidal lactone derived from Withania somnifera, has been demonstrated to be a potent, safe, anti-inflammatory molecule that can inhibit NF-κB signalling. Therefore, we evaluated the ability of WA to protect mouse and human islets from the damaging effects of pro-inflammatory cytokines in vitro and following intraportal transplantation. METHODS: Mouse and human islets were treated with a cytokine cocktail, and NF-κB activation was measured by immunoblots, p65 nuclear translocation and chromatin immunoprecipitation of p65-bound DNA. Intraportal transplantation of a marginal mass of syngeneic mouse islets was performed to evaluate the in vivo protective effect of WA. RESULTS: Treatment with WA substantially improved islet engraftment of syngeneic islets (83% for infusion with 200 islets + WA; 0% for 200 islets + vehicle) in a mouse model of diabetes, compared with marginal graft controls with superior islet function in WA-treated mice confirmed by glucose tolerance test. Treatment of human and mouse islets with WA prevented cytokine-induced cell death, inhibited inflammatory cytokine secretion and protected islet potency. CONCLUSIONS: WA was shown to be a strong inhibitor of the inflammatory response in islets, protecting against cytokine-induced cell damage while improving survival of transplanted islets. These results suggest that WA could be incorporated as an adjunctive treatment to improve islet transplant outcome.

A-type antiferro-orbital ordering with I4(1)/a symmetry and geometrical frustration in the spinel vanadate MgV2O4.

We conduct a detailed structural analysis of the S=1 pyrochlore antiferromagnet MgV2O4, which exhibits an antiferromagnetic ordering marginally at TN=40 K, triggered by a structural transition from cubic to tetragonal symmetry at TS=62 K, using high resolution synchrotron x-ray diffraction and convergent beam electron diffraction. We reveal that the tetragonal phase below TS has the symmetry of I4(1)/a and that the distortion pattern of VO6 octahedra is consistent with A-type antiferro-orbital ordering with alternating stacking of layers with yz/xy orbital chains and zx/xy orbital chains along the tetragonal c axis. This implies that an anisotropic coupling of V moments produced by the orbital ordering below TS primarily brings about the antiferromagnetic ordering.

Methicillin-resistant Staphylococcus aureus foot infection after fish pedicure.

Fish pedicure has become a popular cosmetic procedure involving immersion of the feet in a tank with freshwater fish (Garra rufa) that nibble off dead skin. There are concerns about the potential transmission of pathogens, but no cases of infections after this procedure have been published so far. We present a patient who developed foot infection with methicillin-resistant Staphylococcus aureus (MRSA) after fish pedicure.

Chronic kidney disease categories and renal-cardiovascular outcomes in type 2 diabetes without prevalent cardiovascular disease: a prospective cohort study (JDDM25).

AIMS/HYPOTHESIS: In type 2 diabetic patients at low risk for cardiovascular disease (CVD), the relationship between the clinical course of nephropathy by stage of chronic kidney disease (CKD) and onset of CVD remains unclear. Clarification of this relationship is important for clinical decision-making for both low- and high-risk diabetic patients. METHODS: This 4 year prospective study enrolled 2,954 type 2 diabetic patients with no prevalent CVD, and serum creatinine <176.8 µmol/l. The risk for CVD onset (non-fatal and fatal CVD and stroke, and peripheral arterial disease) was assessed according to CKD stage categorised by urinary albumin-to-creatinine ratio (ACR; mg/mmol) and estimated GFR (eGFR; ml min(-1) 1.73 m(-2)). Association of progression from 'no CKD' stage (ACR <3.5 mg/mmol and eGFR ≥ 90 ml min(-1) 1.73 m(-2)) with risk for CVD onset was also evaluated. RESULTS: During follow-up (median 3.8 years), 89 CVD events occurred. Compared with patients with 'no CKD' as reference, those with ACR ≥ 35.0 mg/mmol with co-existing eGFR 60-89 ml min(-1) 1.73 m(-2) or <60 ml min(-1) 1.73 m(-2) showed increased risk for CVD onset, whereas those with eGFR ≥ 90 ml min(-1) 1.73 m(-2) did not. Those with ACR <3.5 mg/mmol and eGFR <60 ml min(-1) 1.73 m(-2) did not show any increased risk. Among patients with 'no CKD' stage at baseline, those who progressed to ACR ≥ 3.5 mg/mmol during follow-up showed an increased risk compared with those who did not, whereas those who progressed to eGFR <90 ml min(-1) 1.73 m(-2) did not have increased risk. CONCLUSIONS/INTERPRETATION: The risk for CVD was associated with progression of albuminuria stage rather than eGFR stage in type 2 diabetic patients at relatively low risk for CVD.

Tetrahedral magnetic order and the metal-insulator transition in the pyrochlore lattice of Cd2Os2O7.

Cd2Os2O7 shows a peculiar metal-insulator transition at 227 K with magnetic ordering in a frustrated pyrochlore lattice, but its magnetic structure in the ordered state and the transition origin are yet uncovered. We observed a commensurate magnetic peak by resonant x-ray scattering in a high-quality single crystal. X-ray diffraction and Raman scattering experiments confirmed that the transition is not accompanied with any spatial symmetry breaking. We propose a noncollinear all-in-all-out spin arrangement on the tetrahedral network made of Os atoms. Based on this we suggest that the transition is not caused by the Slater mechanism as believed earlier but by an alternative mechanism related to the formation of the specific tetrahedral magnetic order on the pyrochlore lattice in the presence of strong spin-orbit interactions.

New image analysis of large food particles can discriminate experimentally suppressed mastication.

Objective parameters that could provide a basis for food texture selection for elderly or dysphagic patients have not been established. We, therefore, aimed to develop a precise method of measuring large particles (>2 mm in diameter) in a bolus and an analytical method to provide a scientific rationale for food selection under masticatory dysfunction conditions. We developed a new illumination system to evaluate the ability of twenty female participants (mean age, 23·4 ± 4·3 years) to masticate carrots, peanuts and beef with full, half and one quarter of the number of masticatory strokes. We also evaluated mastication under suppressed force, regulated by 20% electromyographic of the masseter muscle. The intercept and inclination of the regression line for the distribution of large particles were adopted as coefficients for the discrimination of masticatory efficiency. Single set of coefficient thresholds of 0·10 for the intercept and 1·62 for the inclination showed excellent discrimination of masticatory conditions for all three test foods with high specificity and sensitivity. These results suggested that our method of analysing the distribution of particles >2 mm in diameter might provide the basis for the appropriate selection of food texture for masticatory dysfunction patients from the standpoint of comminution.

Structural evolution in the neutron-rich nuclei ¹°6Zr and ¹°8Zr.

The low-lying states in ¹°6Zr and ¹°8Zr have been investigated by means of ß-γ and isomer spectroscopy at the radioactive isotope beam factory (RIBF), respectively. A new isomer with a half-life of 620 ± 150 ns has been identified in ¹°8Zr. For the sequence of even-even Zr isotopes, the excitation energies of the first 2⁺ states reach a minimum at N = 64 and gradually increase as the neutron number increases up to N = 68, suggesting a deformed subshell closure at N = 64. The deformed ground state of ¹°8Zr indicates that a spherical subshell gap predicted at N = 70 is not large enough to change the ground state of ¹°8Zr to the spherical shape. The possibility of a tetrahedral shape isomer in ¹°8Zr is also discussed.

ß-decay half-lives of very neutron-rich Kr to Tc isotopes on the boundary of the r-process path: an indication of fast r-matter flow.

The ß-decay half-lives of 38 neutron-rich isotopes from (36)Kr to (43)Tc have been measured; the half-lives of (100)Kr, (103-105)Sr, (106-108)Y, (108-110)Zr, (111,112)Nb, (112-115)Mo, and (116,117)Tc are reported here. The results when compared with previous standard models indicate an overestimation in the predicted half-lives by a factor of 2 or more in the A≈110 region. A revised model based on the second generation gross theory of ß decay better predicts the measured half-lives and suggests a more rapid flow of the rapid neutron-capture process (r-matter flow) through this region than previously predicted.

Focal segmental glomerulosclerosis and partial deletion of chromosome 6p: a case report.

We treated a patient with 6p partial deletion syndrome diagnosed after proteinuria was detected during developmental examination 3 years after birth. External anomalies included ocular hypertelorism, saddle nose, elongated philtrum, tent-like lips, and low-set auricles. Mental retardation was evident. The karyotype was 46,XX,del(6) (p.22.1-p22.3) with an interstitial deletion. The kidneys showed no abnormality on imaging such as hydronephrosis, atrophy, or malformation. Examination of a renal biopsy specimen disclosed focal segmental glomerulosclerosis. No cardiac anomaly or Rieger anomaly, which often are present in this syndrome, were noted.