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Demand for energy and the environmental consequences associated with emissions have created a need for alternative energy sources. To avoid conflict over distributing agricultural land to fuel crops rather than food, bioenergy crops could instead be cultivated on marginal land. This study compared the performance of bioenergy candidate crops including M. × giganteus, switchgrass, big bluestem, and prairie cordgrass when cultivated on the same waterlog-prone marginal land. Across all treatments, annual biomass yield was 14.16 Mg ha− 1. Row spacing had significant impacts on productivity for these species. Higher biomass yields were observed in 45cm spacing than in 90cm spacing. Additionally, the biomass yield responses to row spacings varied depending on grass species, which may be due to rhizome structure and vegetative growth types. Regarding feedstock quality, feedstock composition (cellulose, hemicellulose, lignin, and ash concentration) was not influenced by row spacing, and did not deviated from grass species grown on agricultural lands. During experimental periods, our results provide evidence that all four grass species could be cultivated on waterlogged marginal land while maintaining comparable biomass yields.

Chromosome 16p11.2 is one of the susceptible sites for recurrent copy number variations (CNVs) due to flanking near-identical segmental duplications. Five segmental duplications, named breakpoints 1 to 5 (BP1–BP5), have been defined as recombination hotspots within 16p11.2. Common CNVs on 16p11.2 include a proximal ~593 kb between BP4 and BP5, and a distal ~220 kb between BP2 and BP3. We performed a search for patients carrying 16p11.2 CNVs, as detected using chromosome microarray (CMA), in the Molecular Diagnostic Laboratory at the University of Texas Medical Branch (UTMB), in Galveston. From March 2013 through April 2018, a total of 1200 CMA results were generated for germline testing, and 14 patients tested positive for 16p11.2 CNVs, of whom 7 had proximal deletion, 2 had distal deletion, 4 had proximal duplication, and 1 had distal duplication. Herein, we provide detailed phenotype data for these patients. Our study results show that developmental delay, abnormal body weight, behavioral problems, and hypotonia are common phenotypes associated with 16p11.2 CNVs.

Background Familial chylomicronemia syndrome (FCS) is caused by a genetic defect in triglyceride (TG) metabolism that leads to severe hypertriglyceridemia, which in turn is associated with multiple morbidities and may cause severe pancreatitis that is both recurrent and progressive. Management of hypertriglyceridemia in FCS is challenging, as both dietary and medical interventions are often ineffective. Therapeutic plasma exchange (TPE) has been shown to rapidly decrease circulating levels of chylomicrons and TGs in patients presenting with acute hypertriglyceridemic-associated pancreatitis. Conversely, limited evidence exists to suggest that prophylactic use of TPE is effective at preventing recurrence of acute pancreatitis. Case report Herein, we report our experience with the use of chronic, prophylactic TPE to reduce the incidence of recurrent acute pancreatitis in a patient with FCS.

Background Crepidiastrum denticulatum (CD) is a well-known, traditionally consumed vegetable in Korea, which was recently reported to contain bioactive compounds with detoxification and antioxidant properties. Ischemia-reperfusion injury (IRI) is a major problem after renal transplantation. Furthermore, inflammatory responses to IRI exacerbate the resultant renal injury. In the present study, we investigated whether CD extract exhibits renoprotective effects against IR-induced acute kidney injury in mice. Materials and methods Renal IRI was induced in male C57BL/6 mice by bilateral renal pedicle occlusion for 30 minutes followed by reperfusion for 48 hours. CD extract (75 mg/kg) was administered orally 5 days before IRI. Results Treatment with CD extract significantly decreased blood urea nitrogen and serum creatinine levels as well as kidney tubular injury. CD also prevented IRI-induced renal glutathione depletion and increased malondialdehyde levels. Western blotting and reverse transcriptase polymerase chain reaction indicated that CD extract significantly attenuates inducible nitric oxide synthase and toll-like receptor 2/4 protein levels 48 h after IRI. The expression of tumor necrosis factor-α and interleukin-1β was significantly decreased in the CD extract treatment group. Conclusion CD extract improved acute renal IRI through its antioxidant and anti-inflammatory effects. These findings suggest that CD extract is a potential therapeutic agent for acute ischemia-induced renal damage.

Objectives This study was designed to evaluate the usefulness of intra-operative frozen section for the evaluation of microscopic extrathyroidal extension (ETE) in papillary thyroid carcinoma (PTC). Design Retrospective cohort study. Setting Dong-A University Medical Center, Busan, Korea. Participants Three hundred and sixty-four patients who underwent thyroid surgery from January 2000 to December 2010 with PTC confined to one unilateral lobe as diagnosed using preoperative ultrasonography were enrolled. Main outcome measures The patients who had microscopic ETE on frozen section were classified into “group A,” and those who did not have microscopic ETE on frozen section were classified into “group B.” Clinicopathologic factors including age, gender, size of the tumour, extent of operation, ETE, multifocality, bilaterality, lymph node metastasis and recurrence were compared between the two groups. Results Of the 364 patients enrolled, ETE was confirmed in 100 patients (group A, 27.5%) on frozen biopsy. The nodule size in group A (0.94±0.87 cm) was larger than that in group B (0.86±0.79 cm) (P=.042). In group A, 15 patients (15%) showed multifocality and 11 patients (14.47%) showed bilaterality. In group B, 37 patients (14.02%) showed multifocality and seven patients (43.35%) showed bilaterality. They did not differ significantly between the two groups (P=.811, P=.182). There was a higher frequency of lymph node metastases in group A (52/86, 60.47%) than in group B (7/16, 43.75%, P=.214). Recurrence was observed in only two patients who had received thyroid lobectomy as the initial surgery in group A. Conclusions Intra-operative frozen biopsy can be a useful method for identifying the microscopic ETE. During the surgery, it can also help the surgeon to decide the optimal extent of surgery and the need for central compartment neck dissection in PTC patients.

Introduction: We report a pediatric case of primary hyperparathyroidism due to a parathyroid adenoma and Cushing’s disease due to a pituitary adenoma. Clinical Case: The patient presented at 13.5 years old for hypertension that was discovered during an exam for weight loss, headaches, and paresthesias. Evaluation was significant for elevated blood pressure (148/98 mmHg), obesity (BMI 96.5%), striae, and he was found to be midpubertal. Tests showed calcium levels 10.7 (RR 8.6-10.6 mg/dL), aldosterone 2.4 (RR 4.0-31.0), and 24 hour urine cortisol/creatinine 451 ug/g (prepubertal RR< 25, >18 yo

Background: Heterozygous loss of function mutations in GH1 are a cause of autosomal dominant isolated growth hormone deficiency (GHD) or IGHD type II. However, this condition is rare and a genotype/phenotype association is often based on single case or pedigree reports. Clinical Case: The male proband was born at 38 weeks following an uncomplicated pregnancy, birthweight 2585 gm (˗1.3SD), length 43 cm (˗2.7SD). At 20 months old: length ˗3.2SD, weight/length 16%. Peak growth hormone (GH) levels 4.42 ng/mL and 3.2 ng/mL following clonidine and arginine stimulation, respectively; cortrosyn-stimulated cortisol was 41.4 mcg/dL. Prolactin was 61.2 ng/mL (reference range 2.6 to 13.1 ng/mL); T4 and TSH levels were normal. Magnetic resonance imaging showed a flattened anterior pituitary gland, consistent with empty sella, with normal bright spot. He has had an intermittent and variable response to GH treatment due to noncompliance; recent recorded height was ˗3.6SD at 13.9 and he was early pubertal. Father had a history of childhood growth hormone treatment and is 151 cm tall, 2 paternal aunts did not receive treatment and are 145 cm tall, 3 children of these aunts are diagnosed with GHD. There is no maternal family history of GHD; mother is 155 cm. Proband testing revealed heterozygous GH1 c.291 + 34G>C (EGL Genetics), classified as a variant of unknown significance; father was also found to have this variant, mother was negative. Genetic testing for of additional family members is under consideration. Conclusion: Nine of 96 heterozygous GH1 variants are located in intron 3. Two have been classified as pathogenic and are predicted to cause exon skipping. Our proband’s variant cannot be considered a canonical splice site or in a mutational hot spot but has extremely low frequency in population databases. Functional studies clan clarify if our proband’s variant results in a 17.5 kDa GH isoform and dominant negative effect on full length GH production with potential detrimental effects on other anterior pituitary hormones. We present the second GHD pedigree with GH1 c.291 + 34G>C mutation. As in the previous report (1), no other hormone deficiencies are identified, despite the appearance of an empty sella for our proband. Reference: (1) Cho SY, Ki, CS, Park, HD, et al. Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests. Clin Endocrinol 2013; 78: 317-20.

Background Understanding the patterns of HIV/AIDS epidemics is crucial to tracking and monitoring the progress of prevention and control efforts in countries. We provide a comprehensive assessment of the levels and trends of HIV/AIDS incidence, prevalence, mortality, and coverage of antiretroviral therapy (ART) for 1980-2017 and forecast these estimates to 2030 for 195 countries and territories. Methods We determined a modelling strategy for each country on the basis of the availability and quality of data. For countries and territories with data from population-based seroprevalence surveys or antenatal care clinics, we estimated prevalence and incidence using an open-source version of the Estimation and Projection Package - a natural history model originally developed by the UNAIDS Reference Group on Estimates, Modelling, and Projections. For countries with cause-specific vital registration data, we corrected data for garbage coding (ie, deaths coded to an intermediate, immediate, or poorly defined cause) and HIV misclassification. We developed a process of cohort incidence bias adjustment to use information on survival and deaths recorded in vital registration to back-calculate HIV incidence. For countries without any representative data on HIV, we produced incidence estimates by pulling information from observed bias in the geographical region. We used a re-coded version of the Spectrum model (a cohort component model that uses rates of disease progression and HIV mortality on and off ART) to produce agesex- specific incidence, prevalence, and mortality, and treatment coverage results for all countries, and forecast these measures to 2030 using Spectrum with inputs that were extended on the basis of past trends in treatment scale-up and new infections. Findings Global HIV mortality peaked in 2006 with 1·95 million deaths (95% uncertainty interval 1·87-2·04) and has since decreased to 0·95 million deaths (0·91-1·01) in 2017. New cases of HIV globally peaked in 1999 (3·16 million, 2·79-3·67) and since then have gradually decreased to 1·94 million (1·63-2·29) in 2017. These trends, along with ART scale-up, have globally resulted in increased prevalence, with 36·8 million (34·8-39·2) people living with HIV in 2017. Prevalence of HIV was highest in southern sub-Saharan Africa in 2017, and countries in the region had ART coverage ranging from 65·7% in Lesotho to 85·7% in eSwatini. Our forecasts showed that 54 countries will meet the UNAIDS target of 81% ART coverage by 2020 and 12 countries are on track to meet 90% ART coverage by 2030. Forecasted results estimate that few countries will meet the UNAIDS 2020 and 2030 mortality and incidence targets. Interpretation Despite progress in reducing HIV-related mortality over the past decade, slow decreases in incidence, combined with the current context of stagnated funding for related interventions, mean that many countries are not on track to reach the 2020 and 2030 global targets for reduction in incidence and mortality. With a growing population of people living with HIV, it will continue to be a major threat to public health for years to come. The pace of progress needs to be hastened by continuing to expand access to ART and increasing investments in proven HIV prevention initiatives that can be scaled up to have population-level impact. © 2019 The Author(s).

Persistent mullerian duct syndrome (PMD) with antimullerian hormone (AMH) deficiency is usually associated with mutations or deletions of the AMH gene, although many cases have no identified gene association. We report on a genetic male with PMD and AMH deficiency associated with distal monosomy 10q. A term 3,230 g infant was born to a healthy 27-year-old. Fetal ultrasound had shown possible genital ambiguity. Postnatal exam showed a 0.5 cm phallus with basal meatus, normal scrotum with no palpable gonads, no vaginal orifice, and a rectal fistula with an imperforate anus. Voiding cystourethrogram with ultrasound, cystoscopy, and laparoscopy showed normal bladder, urethral orifice, distal vagina, cervix, and bilateral abdominal testis. At 24 hours of life, testosterone was within normal range with low AMH level. Chromosome microarray analysis showed 46, XY, del10(10q25.3q26.13) involving an 8.2 MB interstitial deletion. Whole exome sequencing identified a NOTCH2 variant (1p11.2). AMH sequencing revealed no abnormalities. Following multidisciplinary team and parent discussion, male gender was assigned. Testosterone treatment resulted in penile length of 1.5 cm. Bilateral orchiopexy and posterior sagittal anorectoplasty were performed at 11 months of age; rudimentary mullerian structures were identified. This observation suggests an association of 10qter elements with male differentiation including AMH expression and is similar to a patient with 46, XY, del(10q26.1) in which AMH levels were not reported. Regional candidate genes include FGFR2 (10q26.13). The possible contribution of a NOTCH2 variant cannot be excluded. © 2015 Wiley Periodicals, Inc.

Summary Recently, the use of electrical prospecting with high spatial density of electrodes has increased and is being applied to underground investigations for mineral exploration and other civil engineering purposes. In order to characterize rock mass using the resistivity distribution of ground, which is obtained from these investigations, it is important to understand the relationship between the electrical resistivity and physical properties of rocks. In this paper, the resistivity of various types of rocks is measured to elucidate the effect of the physical properties of rock on resistivity. The resistivity of rocks has a tendency to decrease with increasing porosity. However, the resistivity does not always correspond to porosity even in the same type of rock, because of different mineral compositions and pore geometries. The resistivity of the rocks increases with the increase in the pore fluid resistivity, regardless of the rock types. However, between 20 and 100 ohm-m, which is the available groundwater resistivity in rock masses, the resistivity of pore fluids had a little effect on the rock resistivity. The resistivity of the rocks decreases with increasing water saturation up to a certain point, beyond which the degree of this drop becomes insignificant. Further, the resistivity of unsaturated rocks exponentially increases with the decrease in the water saturation of 20% or less.

Objective: We report an unusual case of Prader-Willi Syndrome (PWS) presenting with clinical signs and symptoms suggestive of Angelman Syndrome (AS), without exclusive features of PWS.Methods: A deletion in the 15q11-13 region is associated with 2 distinctive genetic syndromes depending on the parent of origin: AS and PWS. AS is characterized by developmental delays, seizures, microcephaly, movement or balance disorders, speech disorders, and happy demeanor. PWS is characterized by hypotonia, hyperphagia, and developmental delays. An 11.5-year-old female was evaluated for developmental delay with cognitive disabilities, minimal speech, echolalia, and continuous hand motions. The patient had a pleasant but minimally interactive demeanor.Results: Chromosomal microarray analysis revealed a 5.02 Mb interstitial deletion of 15q11.2>q13.1 (base pairs 21,192,943 to 26,213,571), consistent with PWS or AS, and a 604 kb interstitial duplication of 16p11.2 (base pairs 29,530,197 to 30,134,432). Based on her presentation, AS was suspected; however, methylation analysis confirmed the diagnosis of PWS, with the presence of only the maternal copy of 15q11.2q13.1.Conclusion: Although variable phenotypic presentation of PWS has been reported, this case is particularly unusual in having only a few typical features of PWS while presenting as possible AS. We postulate that the 16p11.2 duplications, involving an autism susceptibility region, may have attenuated some features of PWS.Abbreviations: AS = Angelman Syndrome; ASD = Autism Spectrum Disorder; BMI = body mass index; CMA = chromosomal microarray; PWS = Prader-Willi Syndrome