Reciprocal control of colon-specific sulfomucin and sialosyl-Tn antigen expression in human colorectal neoplasia

 Histochemical reports claim that sulfomucins decrease and sialylated mucins increase during colon carcinogenesis. We examined the expression of colon-specific sulfomucins and sialosyl Tn antigen (STN) in normal small intestine, normal colorectal mucosa and colorectal tumours at different stages of progression immunohistochemically, using MAb 91.9H specific for colonic sulfomucins and MAb TKH-2 for STN. No expression of sulfomucins recognized by MAb 91.9H was found in normal small intestine, whereas STN staining was pronounced. The converse was the case in normal colorectal mucosa. Sulfomucins were still found in adenomas, but the amounts decreased with depth of invasion in cancers (P<0.001). In contrast, no STN could be detected in benign lesions, but staining became increasingly evident with invasion (P<0.001). This reciprocal control of expression of colon-specific sulfomucins and STN evident in tumour progression indicates that the mucous phenotype shifts from the colonic to the small intestinal type. Received: 10 September 1996 / Accepted: 4 February 1997     

Somatic symptoms for diagnosing major depression in cancer patients

Diagnosing depression in cancer patients has been challenging because the diagnostic criteria include somatic symptoms frequently attributed to the cancer itself or its treatment. However, few studies have explored how to appropriately deal with individual somatic symptoms. The authors used data from 220 cancer patients with major depression to examine the intercorrelations among the DSM-IV somatic and nonsomatic symptom criteria as well as whether the presence of an individual somatic symptom could discriminate the severity of major depression. Appetite changes and a diminished ability to think were positively associated with anhedonia. Sleep disturbance and fatigue were not significantly associated with nonsomatic symptoms. These associations were consistent after adjusting for physical functioning and pain. Only patients with appetite changes showed a higher severity of depression. These results suggest that individual somatic symptoms differ in nature and that appetite-related symptoms and a diminished ability to think may be useful for diagnosing depression in cancer patients, whereas sleep disturbances and fatigue may not be as useful.     

神经节苷脂在视网膜母细胞瘤组织中的表达

目的寻找视网膜母细胞瘤(retinoblastoma,RB)的生物学标志.方法应用高效薄层色谱法对32例RB瘤组织及21例对照视网膜组织的神经节苷脂进行对照分析.结果RB瘤组织神经节苷脂结合的唾液酸含量明显低于对照视网膜组织(0.04±0.01mg/g(湿重),0.11±0.02mg/g(湿重),P<0.01).GM3,GM2,GM1,GD3及GD2为RB瘤组织主要成分,对照视网膜组织中则以GM2、GM1、GD1a、GT1b、GQ1b为主.结论神经节苷脂在RB瘤组织中的表达形式对其临床诊断及监测具有一定的价值.     

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

Kabuki syndrome is characterized by a variable degree of intellectual disability, characteristic facial features, and complications in various organs. Many variants have been identified in two causative genes, that is, lysine methyltransferase 2D (KMT2D) and lysine demethylase 6A (KDM6A). In this study, we present the results of genetic screening of 100 patients with a suspected diagnosis of Kabuki syndrome in our center from July 2010 to June 2018. We identified 76 variants (43 novel) in KMT2D and 4 variants (3 novel) in KDM6A as pathogenic or likely pathogenic. Rare variants included a deep splicing variant (c.14000‐8C>G) confirmed by RNA sequencing and an 18% mosaicism level for a KMT2D mutation. We also characterized a case with a blended phenotype consisting of Kabuki syndrome, osteogenesis imperfecta, and 16p13.11 microdeletion. We summarized the clinical phenotypes of 44 patients including a patient who developed cervical cancer of unknown origin at 16 years of age. This study presents important details of patients with Kabuki syndrome including rare clinical cases and expands our genetic understanding of this syndrome, which will help clinicians and researchers better manage and understand patients with Kabuki syndrome they may encounter.     

Early detection of cone photoreceptor cell loss in retinitis pigmentosa using adaptive optics scanning laser ophthalmoscopy

Graefe's Archive for Clinical and Experimental Ophthalmology - The purpose of the study was to investigate the characteristics of the parafoveal cone density changes in patients with retinitis...     

Undernutrition,Sarcopenia, and Frailty in Fragility Hip Fracture: Advanced Strategies for Improving Clinical Outcomes

Geriatric patients with hip fractures often experience overlap in problems related to nutrition, including undernutrition, sarcopenia, and frailty. Such problems are powerful predictors of adverse responses, although few healthcare professionals are aware of them and therefore do not implement effective interventions. This review aimed to summarize the impact of undernutrition, sarcopenia, and frailty on clinical outcomes in elderly individuals with hip fractures and identify successful strategies that integrate nutrition and rehabilitation. We searched PubMed (MEDLINE) and Cochrane Central Register of Controlled Trials (CENTRAL) for relevant literature published over the last 10 years and found that advanced interventions targeting the aforementioned conditions helped to significantly improve postoperative outcomes among these patients. Going forward, protocols from advanced interventions for detecting, diagnosing, and treating nutrition problems in geriatric patients with hip fractures should become standard practice in healthcare settings.     

Calcium regulating activity of 24a-homo-24,24-difluoro-1α,25-dihydroxyvitamin D3 and 26,27-dimethyl-24,24-difluoro-1α,25-dihydroxyvitamin D3

Summary Two fluoro analogs of 1,25-dihydroxyvitamin D₃ [1,25(OH)₂D₃], 24a-homo-24,24-difluoro-1,25-dihydroxyvitamin D₃ [24aF₂-homo-1,25(OH)₂D₃], and 26,27-dimethyl-24,24-difluoro-1,25-dihydroxyvitamin D₃ [24F₂-1,25(OH)₂(Me)₂D₃] were examined for calcium (Ca)-regulating activity. The objective of the present study was to determine whether or not fluoro substitution at 24-position would alter activities of the original compounds, that is, 26,27-dimethyl 1, 25-dihydroxyvitamin. D₃[1,25(OH)₂ (Me)₂D₃] and 24-homo-1,25-dihydroxyvitaminD₃[24homo-1,25(OH)₂D₃], respectively. The relative activities of 24aF₂-homo-1,25(OH)₂D₃, 24F₂-1,25(OH)₂(Me)₂D₃, and 1,25(OH)₂D₃ in competing with 1,25(OH)₂D₃ for binding to chick intestinal cytosol receptor were 0.28:0.5:1.0. The relative potencies of the same series of compounds in competition for the vitamin D-deficient rat serum binding sites were 0.04:0.15:1. Bone-resorbing activities of two fluoro analogs in cultures of neonatal mouse parietal bones were more potent than that of 1,25(OH)₂D₃. Similar results were recognized in stimulating activities of osteoclast-like cell formation. Responses of two fluoro analogs to intestinal Ca absorption were similar to that of 1,25(OH)₂D₃. The potencies of 1,25(OH)₂D₃. and its fluoro analogs in bone Ca mobilization were the highest with 1,25(OH)₂D₃. followed by 24F₂ 1,25(OH)₂(Me)₂D₃ and 24aF₂-homo-1,25(OH)₂D₃, in that order. From these results and the data of Paulson et al. [24], fluoro substitution in 24-position of 1,25(OH)₂D₃. apparently does not alter their activities, hence, the fluoro substitution at 24-position of 1,25(OH)₂D₃. and the elongation of side chain of 1,25(OH)₂D₃. may not intensify Ca-regulating activity.     

Inhibition of human immunodeficiency virus in early infected and chronically infected cells by antisense oligodeoxynucleotides and their phosphorothioate analogues.

Antisense oligodeoxynucleotides, both the phosphorothioate analogues and unmodified oligomers of the same sequence, inhibit replication and expression of human immunodeficiency virus already growing in tissue cultures of MOLT-3 cells with much greater efficacy than do mismatched ("random") oligomers and homooligomers of the same length and with the same internucleotide modification. This preferential inhibitory effect is elicited in as short a time as 4-24 hr postinfection. Likewise, antisense oligomers exhibit greater inhibitory effects on human immunodeficiency virus in chronically infected cells than do mismatched oligomers and homooligomers. Phosphorothioate antisene oligomers are up to 100 times more potent than unmodified oligomers of the same sequence in these inhibitory assays. These results, in major respects, confirm and extend those recently published by Matsukura et al. [Matsukura, M., Zon, G., Shinozuka, K., Robert-Guroff, M., Shimada, T., Stein, C. A., Mitsuza, H., Wong-Staal, F., Cohen, J. S. & Broder, S. (1989) Proc. Natl. Acad. Sci. USA 86, 4244-4248]. They also point out the importance of computer analysis of sequences though to be random but that in reality contain significant areas of likely hybridization, either to the viral genome or to the complementary DNA strand synthesized from it. They thus reinforce the concept that specific base pairing is a crucial feature of oligonucleotide inhibition of human immunodeficiency virus.