Cystic Lymphangioma of the Pancreas with Spontaneous Rupture: Report of a Case

Lymphangioma is a benign and congenital malformation of the lymphatic system. Most lymphangiomas are preferentially located in the head and neck region. The abdominal organs are uncommon sites of origin. Several cases of lymphangioma in abdominal organs were reported, however, the pancreas is one of the rarest origins. Generally, intra-abdominal lymphangioma is asymptomatic and found incidentally, but in some cases, the patient complains of abdominal distension or a palpable mass. We describe the case of a 38-year-old male who presented with sudden-onset upper abdominal pain. Rupture of a cystic tumor of the pancreatic head was suspected, based on the findings of computed tomography, magnetic resonance imaging and endoscopic ultrasonography. Subtotal stomach-preserving pancreaticoduodenectomy was undertaken. The tumor, which was 4 × 4.5 × 8 cm in size, was pathologically diagnosed as a cystic lymphangioma. In conclusion, pancreatic lymphangioma is mostly asymptomatic, a ruptured case causing ‘acute abdomen’ has never been reported. Since lymphangioma is benign, it could be observed with accurate diagnosis. The surgical indication would be limited to cases of symptomatic lymphangiomas

TDP-43 regulates cholesterol biosynthesis by inhibiting sterol regulatory element-binding protein 2

Dyslipidemia is considered an essential component of the pathological process of amyotrophic lateral sclerosis (ALS), a fatal motor neuron disease. Although TAR DNA Binding Protein 43 kDa (TDP-43) links both familial and sporadic forms of ALS and cytoplasmic aggregates are a hallmark of most cases of ALS, the molecular mechanism and the in vivo relation of ALS dyslipidemia with TDP-43 have been unclear. To analyze the dyslipidemia-related gene expression by TDP-43, we performed expression microarray and RNA deep sequencing (RNA-Seq) using cell lines expressing high levels of TDP-43 and identified 434 significantly altered genes including sterol regulatory element-binding protein 2 (SREBP2), a master regulator of cholesterol homeostasis and its downstream genes. Elevated TDP-43 impaired SREBP2 transcriptional activity, leading to inhibition of cholesterol biosynthesis. The amount of cholesterol was significantly decreased in the spinal cords of TDP-43-overexpressed ALS model mice and in the cerebrospinal fluids of ALS patients. These results suggested that TDP-43 could play an essential role in cholesterol biosynthesis in relation to ALS dyslipidemia

CNVs in Three Psychiatric Disorders

BACKGROUND: We aimed to determine the similarities and differences in the roles of genic and regulatory copy number variations (CNVs) in bipolar disorder (BD), schizophrenia (SCZ), and autism spectrum disorder (ASD). METHODS: Based on high-resolution CNV data from 8708 Japanese samples, we performed to our knowledge the largest cross-disorder analysis of genic and regulatory CNVs in BD, SCZ, and ASD. RESULTS: In genic CNVs, we found an increased burden of smaller (500 kb) exonic CNVs in SCZ/ASD. Pathogenic CNVs linked to neurodevelopmental disorders were significantly associated with the risk for each disorder, but BD and SCZ/ASD differed in terms of the effect size (smaller in BD) and subtype distribution of CNVs linked to neurodevelopmental disorders. We identified 3 synaptic genes (DLG2, PCDH15, and ASTN2) as risk factors for BD. Whereas gene set analysis showed that BD-associated pathways were restricted to chromatin biology, SCZ and ASD involved more extensive and similar pathways. Nevertheless, a correlation analysis of gene set results indicated weak but significant pathway similarities between BD and SCZ or ASD (r = 0.25–0.31). In SCZ and ASD, but not BD, CNVs were significantly enriched in enhancers and promoters in brain tissue. CONCLUSIONS: BD and SCZ/ASD differ in terms of CNV burden, characteristics of CNVs linked to neurodevelopmental disorders, and regulatory CNVs. On the other hand, they have shared molecular mechanisms, including chromatin biology. The BD risk genes identified here could provide insight into the pathogenesis of BD

Visualization of water concentration distribution in human skin by ultra-multiplex coherent anti-Stokes Raman scattering (CARS) microscopy

International audienceAbstract Ultra-multiplex coherent anti-Stokes Raman scattering (CARS) spectroscopic imaging was used to visualize the distribution of water concentration in human skin ex vivo. The CARS signal of the OH stretching vibrational mode of water was found to coexist with the signal of intercellular lipids such as ceramides, which were visualized by a sharp vibrational band at 2882 cm −1 . Depth-resolved CARS spectroscopic imaging of a skin sample revealed that ceramides were localized in the stratum corneum. These findings demonstrate the powerful potential of CARS spectroscopic imaging for probing pathological changes caused by anomalous water concentration distribution in human skin

Effects of Different Administration Protocols on the Plasma Concentration of Donepezil Hydrochloride in Dementia Patients with Stage 5 Chronic Kidney Disease

The prevalence of chronic kidney disease (CKD) as well as Alzheimer's disease (AD) increases with age. With the aging of the population in Japan, there is an increasing likelihood that patients with CKD will receive donepezil hydrochloride (DPZ), an antidementia drug, in the near future. Nevertheless, there have been few reports on how to use DPZ in patients with severe CKD. We report on 2 CKD stage 5 patients who received DPZ under different prescriptions. In case 1, 3 mg/day of DPZ was initially administered for 4 months, after which the dose was increased to 5 mg/day. In case 2, 5 mg was administered twice a week. The plasma concentration of DPZ was measured and the effectiveness was assessed using the Mini-Mental Health State Examination and the Hasegawa Dementia Rating Scale. We found that (1) only a slight increase in the plasma concentration of DPZ was observed with a dose of 3 mg daily, (2) there was a significant increase in the plasma concentration with a dose of 5 mg daily, and (3) when 5 mg of DPZ was administered twice a week, the plasma concentration did not differ significantly from healthy controls who had received 5 mg daily. Although cognitive function was improved best when the 5-mg dose was administered daily with no apparent side effects, the plasma concentration came close to reaching a toxic level at this dose. Careful follow-up may be essential when DPZ is used at 5 mg/day or greater in severe CKD patients

Structural Characterization of Cerium‐encapsulated Preyssler‐type Phosphotungstate: Additional Evidence of Ce(III) in the Cavity

Single-crystal X-ray structure analysis revealed the precise structure of a Ce-encapsulated Preyssler-type phosphotungstate which was first synthesized by Pope et al. Antonio et al. reported that encapsulated Ce has a 3+ oxidation state and is redox-inactive, which is unlike other Ce-containing phosphotungstates. Therefore, precise structural analysis about Ce position is needed. The encapsulated Ce was located in one of the side cavities, and was coordinated to one H2O molecule. The position of Ce was similar to that of Y3+ and Eu3+ in similar compounds. This result, together with the bond valence sum calculation, provides additional evidence that the oxidation state of the redox-inactive Ce in the Preyssler-type compound is 3+.This research was supported by JSPS KAKENHI, Grant No. JP18H02058 (Grant-in-Aid for Scientific Research (B)), International Network on Polyoxometalate Science at Hiroshima University, and the EPSRC-JSPS core-to-core program

Structural Characterization of Cerium-encapsulated Preyssler-type Phosphotungstate: Additional Evidence of Ce(III) in the Cavity

Single-crystal X-ray structure analysis revealed the precise structure of a Ce-encapsulated Preyssler-type phosphotungstate which was first synthesized by Pope et al. Antonio et al. reported that encapsulated Ce has a 3+ oxidation state and is redox-inactive, which is unlike other Ce-containing phosphotungstates. Therefore, precise structural analysis about Ce position is needed. The encapsulated Ce was located in one of the side cavities, and was coordinated to one H2O molecule. The position of Ce was similar to that of Y3+ and Eu3+ in similar compounds. This result, together with the bond valence sum calculation, provides additional evidence that the oxidation state of the redox-inactive Ce in the Preyssler-type compound is 3+.This research was supported by JSPS KAKENHI, Grant No. JP18H02058 (Grant-in-Aid for Scientific Research (B)), International Network on Polyoxometalate Science at Hiroshima University, and the EPSRC-JSPS core-to-core program