The origin of infra-slow oscillations of oxygenated hemoglobin observed in functional near-infrared spectroscopy

There is increasing interest in the intrinsic activity of the resting brain, especially the activity slower than 0.1Hz (i.e., low-frequency oscillations, or LFOs). To investigate the origin of LFOs observed in functional near-infrared spectroscopy (fNIRS), we recorded multichannel fNIRS and electroencephalography (EEG) from the frontal cortex of 11 healthy young volunteers in the resting state. Electrocardiography (ECG), electro-oculography and respiration were also measured. Synchronous oscillations of oxy-hemoglobin (oxy-Hb) around 1.0Hz were detected in all fNIRS channels, and their frequency was consistent with a peak frequency of ECG, suggesting the changes of cerebral blood flow due to heart beats. In addition, oxy-Hb oscillations around 0.1Hz (i.e., LFOs) appeared in the fNIRS. The channels where LFOs appeared differed among the subjects, and the LFOs appeared or disappeared even in the same fNIRS channels. The appearance of LFOs in fNIRS channels was significantly higher when the LFOs appeared on the EEG in the adjacent EEG electrodes compared to when LFOs did not appear on EEG. The amplitude and coherence (synchronicity) of the LFOs were increased by changing the subjects' position from dorsal to the sitting position in both fNIRS and EEG, and the coherence in particular was increased in the homologous fNIRS channels on the bilateral hemispheres. These results suggest that LFOs of oxy-Hb couple with resting-state EEG activity

Novel CUL4B mutation in Cabezas syndrome

Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the CUL4B gene. Here, we report a clinically undiagnosed 5-year-old male with severe intellectual disability. A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon of CUL4B, thus diagnosing this patient with Cabezas syndrome

Oxandrolone use in adult burn patients. Systematic review and meta-analysis

PURPOSE:This study is a systematic literature review and meta-analysis concerning the use of a testosterone synthetic analog, oxandrolone, and its use in severe adult burns.METHODS:Randomized prospective clinical studies, in English, Portuguese or Spanish, were sought on the following databases: MEDLINE, COCHRANE, EMBASE and LILACS. There was no restriction in relation to the publication date.RESULTS: This search produced 24 studies on MEDLINE and twelve articles were presented on the COCHRANE database .Sixteen were excluded due to the title not being related to this search or by including children. Of the eigth residual studies, after adaptation to the inclusion criteria, only four were selected. After analyzing the results, two were discarded since they did not present adequate patient characterization and the facts on these articles were analyzed differently from the others, hindering the meta-analysis.CONCLUSION:The analysis of the available data demonstrated significant benefits (p<0.05) considering lesser loss of corporal mass, lesser nitrogen loss, and shorter donor area healing time, when Oxandrolone was used, comparatively with the control group (placebo or not).Federal University of São PauloUNIFESPSciEL

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements

Background: Complex genomic rearrangements (CGRs) consisting of interstitial triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in patients with multiple congenital anomalies (MCA)/intellectual disability (ID). One-ended DNA break repair coupled with microhomology-mediated break-induced replication (MMBIR) has been recently proposed as a possible mechanism giving rise to interstitial copy number gains and distal isoUPD, although only a few cases providing supportive evidence in human congenital diseases with MCA have been documented. Case presentation: Here, we report on the chromosomal microarray (CMA)-based identification of the first known case with concurrent interstitial duplication at 1q42.12-q42.2 and triplication at 1q42.2-q43 followed by isoUPD for the remainder of chromosome 1q (at 1q43-qter). In distal 1q duplication/triplication overlapping with 1q42.12-q43, variable clinical features have been reported, and our 25-year-old patient with MCA/ID presented with some of these frequently described features. Further analyses including the precise mapping of breakpoint junctions within the CGR in a sequence level suggested that the CGR found in association with isoUPD in our case is a triplication with flanking duplications, characterized as a triplication with a particularly long duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) structure. Because microhomology was observed in both junctions between the triplicated region and the flanking duplicated regions, our case provides supportive evidence for recently proposed replication-based mechanisms, such as MMBIR, underlying the formation of CGRs + isoUPD implicated in chromosomal disorders. Conclusions: To the best of our knowledge, this is the first case of CGRs + isoUPD observed in 1q and having DUP-TRP/INV-DUP structure with a long proximal duplication, which supports MMBIR-based model for genomic rearrangements. Molecular cytogenetic analyses using CMA containing single-nucleotide polymorphism probes with further analyses of the breakpoint junctions are recommended in cases suspected of having complex chromosomal abnormalities based on discrepancies between clinical and conventional cytogenetic findings

The use of electrogastrography and external ultrasonography to evaluate gastric motility in Crohn’s disease

Although Crohn’s disease is associated with various digestive symptoms, there have been few reports on gastric motility. In this study, we conducted a study of gastric motility in Crohn’s disease using 20 healthy subjects (N group) and 15 patients with Crohn’s disease (C group) by electrogastrography (EGG) using a Nipro electrogastrograph. An EGG was recorded for 30 minutes in a fasting state and after ingestion of 300ml of a liquid meal. As an index of gastric emptying, the rate of change in the crosssectional area of the gastric antrum was measured 1 and 15 minutes after ingestion of the liquid meal by external ultrasonography. In an EGG frequency analysis, waveforms with a peak of 3 cycles/minute (cpm) were noted in the N group, and the peak amplitude increased significantly after the ingestion of food. In the C group, division of the normalgastria component was noted after the ingestion of food in 5 patients (33.3%). In a comparison of the peak amplitudes of fasting brady-gastria, normal-gastria, and tachy-gastria between the N and C groups, the peak amplitude was significantly increased in normalgastria in the N group, and in brady-gastria and tachy-gastria in the C group. In a comparison of the rates of food ingestion-induced changes in the peak amplitudes for bradygastria, normal-gastria, and tachy-gastria between the N and C groups, the peak amplitudes were significantly increased in normal-gastria in the N group, but not in the C group. In the case of gastric emptying investigated by external ultrasonography, the rate of food ingestion-induced change in the cross-sectional antrum area was significantly lower in the C group (50.5±9.2%) than in the N group (65.0±8.5%). For gastrointestinal motility, a 3 cpm normal-gastria represents efficient gastric motility. In the C group, the peak amplitudes of brady-gastria and tachy-gastria were significantly increased, but were low in normal-gastria in the fasting EGG, postprandial division of the normal-gastria component was noted, and the rate of food ingestion-induced increase in the normal-gastria peak amplitude was significantly lower than that in the N group, suggesting that patients with Crohn’s disease have a functional abnormality in, not only the small and large intestine, but also the stomach

Evaluation of the simulator with automatic irrigation control system designed for countermeasures of internal contamination in dental unit water lines

The prevention of nosocomial infections is an imperative task. The dental chair unit (DCU) is an indispensable device used in dental treatment. However, it is known that the dental unit water line (DUWL) can become contaminated with biofilm, consisting mainly of heterotrophic bacteria (HB). Recently, the International Organization for Standardization specified the methods for testing DUWL contamination management. On these grounds, a simulator reproducing DUWL was prepared to standardize the examination method of the DUWL contamination. Objectives To evaluate the reproducibility of the DUWL simulator, monitor the DUWL contamination states, and test the efficacy of a commercial decontaminant for DUWL. Methods The DUWL simulator was assembled by a DCU manufacturing company. The simulator's DUWL was filled with tap water (TW), and left for approximately one year. Neutral electrolyzed water (NEW) was used as a decontaminant for DUWL. Both TW and NEW were passed through DUWL in a timely manner simulating daily dental treatment. Water was sampled from the air turbine hand piece weekly for 4 weeks and used for HB culture. Contamination status was evaluated by measuring bacterial adenosine triphosphate release and by culturing on Reasoner's 2A medium. Results The DUWL released contaminated water had a bacterial count of over 6 × 104 cfu/mL. After passing NEW through DUWL for 1 week, the count drastically decreased to its basal level and remained steady for 4 weeks. However, TW showed no effect on DUWL decontamination throughout the examination periods. Conclusions The DUWL simulator could be useful to examine the efficacy of the decontaminant for DUWL and development of new methods in DUWL contamination management

Lorazepam as a Cause of Drug-Induced Liver Injury

Lorazepam is a benzodiazepine derivative that is globally used for the therapy of anxiety and insomnia. A 51-year-old Japanese man with yellowish discoloration of the eyes and skin and pruritus was admitted due to liver dysfunction. He had taken lorazepam approximately 5 months prior to this admission. The clinical presentation and pathologic findings in the liver were consistent with drug-induced liver injury. After cessation of lorazepam, treatment with Stronger neo-minophagen C and ursodeoxycholic acid was started, and his liver injury resolved after 59 days. This case must serve as a warning to physicians to be aware of the possibility of unexpected liver injury caused by lorazepam