LGBQ affirmative practice and psychological well-being in China.

Research has consistently shown the importance of affirmative practice when therapists work with lesbian, gay, bisexual, queer/questioning (LGBQ) clients. However, less is known about factors that may influence the extent to which clients benefit from affirmative practice. The present study intends to address this gap by examining whether LGBQ affirmative practice would be positively associated with psychological well-being, and whether individuals factors including internalized homophobia (IH), reciprocal filial piety (RFP; providing care and support for parents based on affective bonding), and authoritarian filial piety (AFP; showing unconditional obedience to parents based on parental authority) would moderate this relationship. A total of 128 Chinese LGBQ clients (50% male, 38.3% female, and 11.7% nonbinary/gender queer; age: M = 25.26 years, SD = 5.46) from 21 provinces and regions completed the online survey. Results revealed that LGBQ affirmative practice was positively associated with psychological well-being after controlling for LGBQ clients' pretherapy distress and therapists' credibility. Such association was greater for LGBQ clients who had higher levels of IH and AFP, whereas such effect did not vary with RFP. This study provides preliminary empirical evidence for the effectiveness of LGBQ affirmative practice in psychological health among Chinese LGBQ clients. Moreover, LGBQ affirmative practice might be more helpful for LGBQ clients with higher IH and AFP. These findings implicate that Chinese counselors and therapists should engage in LGBQ affirmative practice when they work with LGBQ clients, especially for those who have high levels of IH and AFP. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

Application of near-infrared fluorescence imaging in the accurate assessment of surgical margins during breast-conserving surgery.

OBJECTIVE: To evaluate the feasibility and accuracy of near-infrared fluorescence imaging technology for assessing margins during breast-conserving surgery for breast cancer. METHODS: Forty-three breast cancer patients who received surgical treatment at Yijishan Hospital of Wannan Medical College were selected. Before the operation, the patients were administered with an indocyanine green injection of 0.5 mg/kg intravenously 2 h before operation. During and after the operation, all patients underwent surgical margin monitoring with the near-infrared fluorescence imaging system for fluorescence imaging and acquisition of images and quantitative fluorescence intensity. During the operation, the patients' tissue specimens were collected on the upper, lower, inner, outer, apical, and basal sides of the fluorescence boundary of the isolated lesions for pathological examination. RESULTS: Fluorescence was detected in the primary tumor in all patients. The average fluorescence intensities of tumor tissue, peritumoral tissue, and normal tissue were 219.41 ± 32.81, 143.35 ± 17.37, and 105.77 ± 17.79 arbitrary units, respectively (P < 0.05, t test). The signal-to-background ratio of tumor to peritumor tissue and normal tissue was 1.54 ± 0.20 and 2.14 ± 0.60, respectively (P < 0.05, t test). Abnormal indocyanine green fluorescence was detected in 11.6% patients (5/43), including 3 patients with residual infiltrating carcinoma and 2 patients with adenosis with ductal dilatation. CONCLUSION: This study confirms the high sensitivity and specificity of near-infrared fluorescence imaging technology for breast-conserving surgery margin assessment. Near-infrared fluorescence imaging technology can be used as an intraoperative diagnosis and treatment tool to accurately determine the surgical margin and is of important guiding value in breast-conserving surgery for breast cancer.

Comparison between emerging adults and adults in terms of contamination fear, post-COVID-19 PTSD and psychiatric comorbidity.

The present study compared Chinese emerging adults and adults regarding the association between contamination fear, posttraumatic stress disorder post-COVID-19 and psychiatric comorbidity after controlling for demographic and trauma exposure variables. 1089 Chinese civilians (M = 382; F = 707) with a mean age of 26 years (M = 26.36, SD = 8.58) were recruited from different provinces in China via an online survey posted on mainstream Chinese social networking platforms. They completed a demographic page with questions on trauma exposure, the Vancouver Obsessional Compulsive Inventory, the Posttraumatic Stress Disorder Checklist for DSM-5 and the General Health Questionnaire-28. Results showed that 12.7%, 68.7% and 18.6% met criteria for full, partial and no PTSD, respectively. Emerging adults reported significantly lower levels of symptoms of re-experiencing, avoidance, somatic problems, anxiety and fear of contamination than adults. In both emerging adults and adults, contamination fear was correlated with PTSD and psychiatric comorbidity. High educational attainment was significantly correlated with psychiatric comorbidity in emerging adults, but with PTSD in adults. Length of quarantine was correlated with psychiatric comorbidity only in adults. In conclusion, both emerging adults and adults developed varying levels of contamination fear, posttraumatic stress and general psychological symptoms following the outbreak of COVID-19. Emerging adults were more resilient than adults in coping with distress.

Elevated Circulating Levels of Glycoprotein Non-Metastatic Melanoma Protein B as a Predictor of Gestational Diabetes Mellitus.

BACKGROUND: The current study aims to investigate the differences of glycoprotein non-metastatic melanoma protein B (GPNMB) levels between gestational diabetes mellitus (GDM) women and normal blood glucose women during pregnancy to provide the basis for early intervention and treatment of GDM. METHODS: The level of GPNMB was detected using an enzyme-linked immunosorbent assay (ELISA). Pearson's correlation assay was performed to analyze the correlation between serum GPNMB and fasting plasma glucose (FPG) or hemoglobin A1c (HbA1c). The receiver operating characteristic (ROC) curve was carried out to analyze the diagnostic value of serum GPNMB. RESULTS: Our data showed that the serum GPNMB level in GDM group was higher than that in normal blood glucose group at 5 - 12 weeks, 13 - 23 weeks, and 24 - 28 weeks of gestation, but there was no significant difference at 29 - 37 weeks of gestation. Meanwhile, the total level of serum GPNMB in GDM group was significantly higher than that in normal blood glucose group. Further study indicated that serum GPNMB positively correlated with FPG (r = 0.562, p < 0.0001) or HbA1c (r = 0.652, p < 0.0001). ROC analysis showed that serum GPNMB level at 13 - 23 weeks of gestation had a good predictive effect on predicting GDM at 24 weeks of gestation and beyond. When the cutoff value of serum GPNMB level was 2.46 µg/L, the sensitivity and specificity were 80% and 72%, respectively. CONCLUSIONS: The serum GPNMB level at 13 - 23 weeks of gestation is an independent risk factor for GDM in 24 weeks and beyond, and early inhibition with GPNMB may provide a preventive measure in GDM women.

Manifestations of left ventricular dysfunction and arrhythmia in patients with chronic hypoparathyroidism and pseudohypoparathyroidism: a preliminary study.

BACKGROUND: Cardiac damage triggered by severe hypocalcemia is well known. However, the role of chronic hypoparathyroidism (HP) and pseudohypoparathyroidism (PHP) in cardiac health is still unclear. We investigated the effect of chronic HP and PHP on cardiac structure and conductive function in patients compiling with treatment. METHODS: The study included 18 patients with HP and eight with PHP aged 45.4 ± 15.4 and 22.1 ± 6.4 years, respectively with a previously regular follow-up. In addition, 26 age- and sex-matched healthy controls were included. General characteristics and biochemical indices were recorded. Cardiac function and structure were assessed by estimation of myocardial enzymes, B-type natriuretic peptide (BNP), and echocardiography. The 12-lead electrocardiogram and 24-h Holter electrocardiography were performed to evaluate the conductive function. RESULTS: Levels of serum calcium in HP and PHP were 2.05 ± 0.16 mmol/L and 2.25 ± 0.19 mmol/L, respectively. The levels of myocardial enzyme and BNP were within the normal range. Adjusting for age at evaluation and body mass index, all M-mode measurements, left ventricular mass (LVM), LVM index (LVMI) and relative wall thickness (RWT) were comparable between patients and controls. Prolongation of corrected QT (QTc) intervals occurred in 52.6% (10/19) of patients, and 6.7% (1/15) of patients manifested more than 100 episodes of supraventricular and ventricular extrasystoles, as well as supraventricular tachycardia. None of the above arrhythmias was related to a severe clinical event. CONCLUSIONS: From this pilot study, patients diagnosed with HP and PHP and well-controlled serum calcium levels manifested normal cardiac morphology and ventricular function, except for prolonged QTc intervals, and a small percentage of mild arrhythmias needing further investigation.

Risk factors for silent new ischemic cerebral lesions following carotid artery stenting.

PURPOSE: Silent new ischemic cerebral lesions (sNICL) detected by diffusion-weighted imaging (DWI) are common after carotid artery stenting (CAS). As part of the Revascularization of Extracranial Carotid Artery Stenosis (RECAS) study, this work aimed to determine predictors of sNICL detected by DWI following CAS. METHODS: A total of 694 patients eligible for the RECAS study treated in Xuanwu Hospital, Capital Medical University, with complete imaging data were included in this retrospective study. The patients were asymptomatic after CAS, and those with stroke, transient ischemic attack (TIA), or death were excluded. The RECAS protocol specified that DWI was completed 1-7 days before the procedure and within 3 days after CAS. Several parameters were assessed for associations with sNICL occurrence after CAS in univariate analysis. Finally, multivariate analysis was performed to determine risk factors for sNICL. RESULTS: The rate of post-procedural sNICL in CAS was 51.3% (356/694 patients with sNICL). All patients underwent stenting with embolic protection devices. Univariate analysis showed that diabetes mellitus (P = 0.008), ipsilateral calcified plaques (P = 0.036), ipsilateral ulcerated plaques (P = 0.026), pre-dilatation (P = 0.003), and open-cell stent use (P < 0.001) were significantly associated with sNICL occurrence in CAS. Multivariate analysis revealed that diabetes mellitus (P = 0.006), ipsilateral calcified plaques (P = 0.024), ipsilateral ulcerated plaques (P = 0.021), and open-cell stent use (P < 0.001) were independent risk factors for sNICL. CONCLUSIONS: Patients with diabetes, calcified or ulcerated plaques who undergo CAS with open-cell stent application, are at high risk of sNICL. Large-scale prospective randomized controlled trials are needed to confirm these findings.

CLINICAL AND GENETIC FINDINGS IN A CHINESE COHORT OF PATIENTS WITH DIGEORGE SYNDROME-RELATED HYPOPARATHYROIDISM.

Objective: Patients with DiGeorge syndrome (DGS) are undiagnosed due to its diverse manifestations. We aimed to characterize the clinical manifestations in a group of Chinese patients of DGS with childhood-onset hypoparathyroidism (HP) as the primary referral, and to report a novel TBX1 mutation. Methods: In this single-center observational study, clinical features and biochemical indices were recorded in 26 patients with DGS and 114 patients with idiopathic HP (IHP). An in vitro functional experiment was launched to analyze the novel TBX1 missense mutation. Results: Compared with 114 patients of IHP (19.1 [13.5, 27.3] years old), 26 patients of DGS (14.9 [10.4, 20.3] years old) had the following differences: an earlier onset age of hypocalcemia; higher levels of serum parathyroid hormone, with a similar disease course; and lower doses of vitamin D preparation therapy. Among the 26 patients of DGS, only 3 of them were clinically diagnosed as this syndrome prior to genetic testing. A total of 25 patients of DGS were verified to have a TBX1 deletion and 1 case with a novel missense mutation of TBX1. The novel p.Y490C mutation in TBX1, located in the transactivation domain, was verified to decrease the transcriptional activity of the TBX1 protein. Conclusion: In this Chinese group of patients with DGS-related HP, a relatively earlier onset age and less severity of HP were found compared to that of patients with IHP. Less common extraparathyroid manifestations are clues for the diagnosis of DGS. Additionally, our discovery of a novel TBX1 missense mutation expands the mutation database of DGS. Abbreviations: DGS = DiGeorge syndrome; HP = hypoparathyroidism; IHP = idiopathic hypoparathyroidism; LCR = low copy repeat; PCR = polymerase chain reaction; PTH = parathyroid hormone; TAD = transactivation domain.

Germline GCM2 Mutation Screening in Chinese Primary Hyperparathyroidism Patients.

OBJECTIVE: Glial cell missing 2 (GCM2), the critical regulator in the development of parathyroid glands, has been associated with the pathogenesis of primary hyperparathyroidism (PHPT). Relevant data in Chinese and other Asian populations are still lacking. This study aimed to screen the germline mutations of GCM2 in Chinese PHPT patients. METHODS: A total of 232 patients diagnosed with PHPT at the Peking Union Medical College Hospital from July, 2016, to February, 2019, were screened using targeted next-generation sequencing to identify rare variants of 8 candidate genes associated with PHPT, including GCM2. Luciferase assays were performed to determine the functional impact of the GCM2 variants. RESULTS: Four male patients were found to carry 3 rare missense variants of the GCM2 gene, including c.1162A>G (p.K388E), c.1144G>A (p.V382M), and c.1247A>G (p.Y416C). Two variants (p.K388E and p.V382M) located within a highly conserved region were associated with GCM2 transactivation function. The 2 cases carrying the p.K388E mutation had a pathology of carcinoma, and the case with the p.V382M mutation had atypical adenoma. CONCLUSION: This study determined an overall GCM2 gain-of-function mutation frequency of 1.3% in a relatively large-sample-sized Chinese PHPT cohort and supported a higher malignant tendency in cases carrying activating GCM2 mutations. Hence, preoperative screening for these GCM2 mutations might be beneficial to treatment decisions, and longer follow-up for such patients is recommended.

Linking Rejection Sensitivity, Shyness and Unsociability with Posttraumatic Stress Disorder and Psychiatric Co-Morbidity among Chinese Adolescents.

This study investigated whether rejection sensitivity (RS), shyness and unsociability would positively correlate with Posttraumatic Stress Disorder (PTSD) and psychiatric co-morbidity and whether shyness and unsociability would mediate the impact of RS on distress outcomes. Four hundred and one adolescents from three middle schools in China completed a demographic questionnaire, Children's Rejection Sensitivity Questionnaire, Children's Shyness Questionnaire, Child Social Preference Scale, Posttraumatic Stress Disorder Checklist for DSM-5, and the General Health Questionnaire-28. The results showed that RS and shyness were mostly correlated with PTSD and psychiatric co-morbidity whereas unsociability was not and therefore not a mediator. Shyness, on the other hand, mediated the impact of angry RS and anxious RS on PTSD, as well as anxious RS on psychiatric co-morbidity. To conclude, the severity of PTSD along with other psychological difficulties tends to increase for those who are shy and sensitive to rejection.

EFFICACY AND SAFETY OF BISPHOSPHONATE THERAPY IN MCCUNE-ALBRIGHT SYNDROME-RELATED POLYOSTOTIC FIBROUS DYSPLASIA: A SINGLE-CENTER EXPERIENCE.

OBJECTIVE: Fibrous dysplasia (FD) is a rare disorder characterized by pain, deformity, and pathologic fractures. McCune-Albright syndrome (MAS) includes a combination of FD, hyperfunctional endocrinopathy, and/or café-au-lait pigmentation. Surgery is generally ineffective in treating FD. This study aimed to evaluate the efficacy and safety of bisphosphonates (BPs) and compare the efficacy of different BPs in FD patients. METHODS: In this retrospective clinical study, laboratory and clinical findings of 22 polyostotic FD cases all associated with MAS were recorded before and after therapy with BPs. RESULTS: Within the first year of therapy with BPs, the level of alkaline phosphatase (ALP) decreased by 30.3% of baseline in the alendronate cases and by 22.7 ± 16.9% and 34.1 ± 26.3% in the pamidronate (PAM) (n = 10) and zoledronic acid (ZA) (n = 11) groups, respectively. There was no significant difference ( P = .256) between the PAM and ZA groups in the rate of change in ALP levels. Bone pain was alleviated in 64% of the cases. Number of affected bones was positively correlated with baseline serum ALP levels ( r = 0.533; P = .011), which was the only significant factor affecting efficacy of BPs. BP treatment was safe and caused no obvious impairment on children's linear growth. CONCLUSION: Our results suggest that BPs may suppress high bone turnover to partially control the activity of the disease and are well tolerated in most patients. ZA has similar effects as PAM in controlling disease activity. ABBREVIATIONS: ALP = alkaline phosphatase; ß-CTX = C-terminal telopeptide of type I collagen; BP = bisphosphonate; BTM = bone turnover marker; FD = fibrous dysplasia; MAS = McCune-Albright syndrome; ONJ = osteonecrosis of the jaw; PAM = pamidronate; PFD = polyostotic fibrous dysplasia; ULN = upper limit of normal; ZA = zoledronic acid.

PRIMARY HYPERPARATHYROIDISM DURING PREGNANCY: A CASE SERIES OF 8 PATIENTS.

Objective: Due to a lack of typical clinical manifestations and physiologic changes in calcium metabolism during pregnancy, primary hyperparathyroidism (PHPT) during pregnancy is commonly underdiagnosed, and treatment during this unique period presents a clinical challenge. Hence, the aim of the present study was to summarize the cases of 8 pregnant patients with PHPT who were treated at our center to provide better clinical insight into this condition. Methods: Our study comprised a retrospective analysis of 8 pregnant PHPT patients and a control group of 22 age-matched, nonpregnant PHPT patients during the same period. Clinical manifestations, biochemical indices, pathologic types, therapeutic strategies, and pregnancy outcomes were compiled, and 25 patients were screened for germline mutations in the MEN1, CDC73, and CaSR genes. Results: The most-common symptoms in the pregnancy group involved the gastrointestinal tract (GIT) in 7/8 cases (87.5%), followed by urinary system involvement (50%) and joint pain (50%). In contrast, GIT symptoms in the control group were significantly less common (31.82%; P = .012). There was a trend of more-severe elevation of serum parathyroid hormone levels in the control group compared to that in the pregnancy group (P = .053). No differences were found in blood-ionized calcium, phosphate, or alkaline phosphatase levels between the two groups. In the pregnancy group, the serum albumin-corrected calcium level was reduced from 3.42 ± 0.66 mmol/L to 2.89 ± 0.46 mmol/L (P = .025) after hydration and medical treatment. Six patients, three of whom were in the second trimester of pregnancy, underwent parathyroidectomy, and 3 patients were after childbirth or had induced labor. Postoperative serum calcium levels were reduced to within the normal range. Fetal/neonatal complications were observed in 4 of 5 patients who had not received surgical treatment during pregnancy. In addition, 2 of 5 pregnant PHPT patients were found to carry MEN1 mutations, whereas no mutations were detected in any of the 20 nonpregnant patients. Conclusion: In this case series of PHPT during pregnancy, the most-common complaint of GIT symptoms may be easily confused with pregnancy reactions, which might contribute to the under- or misdiagnosis of this clinical entity. Patients who did not receive surgical treatment during pregnancy had high incidences of fetal/neonatal complications and worse pregnancy outcomes. Abbreviations: CaSR = calcium-sensing receptor; CDC73 = cell division cycle 73; GIT = gastrointestinal tract; MEN = multiple endocrine neoplasia; PHPT = primary hyperparathyroidism; PTH = parathyroid hormone; SCa = serum calcium.

Measurement of the inner diameter of monocapillary with confocal x-ray scattering technology based on capillary x-ray optics.

The inner diameter is one of most important parameters in the design and fabrication of monocapillary x-ray optics, which are widely used in x-ray technology. The confocal x-ray scattering method based on x-ray capillary optics was proposed to nondestructively measure the inner and outer diameters of the monocapillary. The positions of the boundaries of monocapillary x-ray optics were determined by a knife-edge scanning method, and the x-ray optics were profiled in two planes or in three-dimensional space accordingly. This confocal method could conveniently give the inner surface topography of the monocapillary optics, which can be used to show the difference between the actual inner surface and the theoretical one, and has potential applications in nondestructive measurements of stratified substances, or the profile morphology of a specific interface.

Identification and Characterization of the DMRT11E Gene in the Oriental River Prawn Macrobrachium nipponense.

The doublesex and mab-3 related transcription factor (DMRT) gene family involvement in sex development is widely conserved from invertebrates to humans. In this study, we identified a DM (Doublesex/Mab-3)-domain gene in Macrobrachium nipponense, which we named MniDMRT11E because it has many similarities to and phylogenetically close relationships with the arthropod DMRT11E. Amino acid alignments and structural prediction uncovered conservation and putative active sites of the DM domain. Real-time PCR analysis showed that the MniDMRT11E was highly expressed in the ovary and testis in both males and females. Cellular localization analysis showed that DMRT11E was mainly located in the oocytes of the ovary and the spermatocyte of the testis. During embryogenesis, the expression level of MniDMRT11E was higher at the cleavage stage than at other stages. During the different stages of ovarian development, MniDMRT11E expression gradually increased from OI to OIII and decreased to the lowest level at the end of OIV. The results indicated that MniDMRT11E probably played important roles in embryonic development and sex maturity in M. nipponense. MniDMRT11E dsRNA injection also significantly reduced vitellogenin (VG) expression and significantly increased insulin-like androgenic gland factor (IAG) expression, indicating a close relationship in gonad development.

MiR-125a-5p functions as a tumour suppressor in breast cancer by downregulating BAP1.

MicroRNAs (miRNAs) play an important role in the regulation of human cancers, including breast cancer (BC). In the current study, we examined the expression pattern of the miRNA miR-125a-5p in human BC tissues, tumorigenesis of BC progression. We found that miR-125a-5p was significantly downregulated in human BC tissues. Overexpression of miR-125a-5p in a xenograft mouse model indicated that miR-125a-5p may function as a tumour suppressor during carcinogenesis. To explore the molecular mechanism by which miR-125a-5p contributes to BC progression, we predicted the target genes of miR-125a-5p and identified BC susceptibility gene 1-associated protein 1 (BAP1) as a direct target. Finally, we demonstrated that BAP1 had opposing effects to those of miR-125a-5p on BC cells, suggesting that miR-125a-5p may inhibit cell proliferation and promote cell apoptosis by negatively regulating BAP1. Taken together, our findings provide the first clues regarding the role of miR-125a-5p as a tumour suppressor in BC via the inhibition of BAP1 translation.

Endovascular recanalization for chronic symptomatic intracranial vertebral artery total occlusion: Experience of a single center and review of literature.

OBJECTIVE: The optimal treatment of chronic symptomatic total occlusion of the intracranial vertebral artery (ICVA) remains undefined. We report a single-center experience of endovascular recanalization for patients with chronic symptomatic ICVA occlusion who were refractory to medical therapy. METHODS: From Jan 2009 to Jan 2017, we retrospectively reviewed 14 consecutive patients presenting with recurrent symptoms attributed to the chronic ICVA occlusion. We searched previous literature using PubMed databases during the same period as comparison. RESULTS: Eleven patients out of 14 presented initial symptoms to intervention less than 90days. The occlusion course was extrapolated on simultaneous two-vessel injection angiography or high-resolution MR imaging (HRMRI) in 13 cases. Nine patients had the occlusion beyond the origin of posterior inferior cerebellar artery (PICA) and 5 had the occlusion proximal to the PICA origin. The technical success rate of recanalization was 85.7% (12/14). Two patients (14.3%, 2/14) had peri-procedural complications: 1 developed TIA and 1 presented with perforator occlusion syndrome. Using the keyword-based search, we identified 6 studies at the same period. A total of 34 patients underwent recanalization with the successful recanalization rate at 94.1%, peri-procedural complication rate at 17.6% and mortality at 2.9%, respectively. CONCLUSION: Our single-center study illustrated the feasibility and safety of ICVA recanalization. Great care should be taken as revascularization is of high risk. When patient selection, occlusion course and stage as well as neuroimaging evaluation are considered, endovascular recanalization may be a useful therapeutic modality.

Versatile Tailoring of NH2 -Containing Metal-Organic Frameworks with Paddle-Wheel Units.

An amine-containing non-interpenetrating pillar-layer framework, [Zn2 (dbtcb)(L1)]⋅x solvent (1), has been synthesized from Zn(NO3 )2 and the ligands 1,4-dibromo-2,3,5,6-tetrakis(4-carboxyphenyl)benzene (H4 DBTCB) and 2,5-bis(4-pyridyl)aniline (L1). The [Zn2 (COO)4 ] secondary building units (SBUs) are bridged by DBTCB to form two-dimensional layers that are linked by L1 ligands acting as pillars to form a three-dimensional network. This NH2 -containing framework can undergo versatile tailoring through post-synthetic covalent modification, solvent-assisted linker exchange (SALE), and single-crystal-to-single-crystal (SC-SC) transmetalation reactions. Acetamide-functionalized [Zn2 (L2)(dbtcb)]⋅xsolvent (2) could be obtained by direct synthesis from Zn(NO3 )2 , N-acetyl-2,5-bis(4-pyridyl)aniline (L2) and H4 DBTCB. Importantly, compound 1 with pure NH2 ligands as pillars could be obtained by SALE of 2 with L1 in DMSO solution. The transmetalation reactions of 1 with CuII , NiII , and CoII were studied; inductively coupled plasma-atomic emission (ICP) analysis revealed that 1 underwent almost complete SC-SC transmetalation with CuII within 30 h, whereas with NiII and CoII only 70 and 80 % substitutions were achieved. Photoluminescence studies revealed that 1 and 2 display yellow-green and UV emission, respectively, under a UV lamp. Furthermore, the photoluminescent properties could be tuned by introducing mixed pillar amino ligands L1 and L2 into the MOF to produce multivariate (MTV) MOF 3 displaying overall orange emission.

Concomitant asymptomatic internal carotid artery and persistent primitive hypoglossal artery stenosis treated by endovascular stenting with proximal embolic protection.

The persistent primitive hypoglossal artery (PPHA) is a rare fetal variant of carotid-basilar anastomosis that increases the risk of ischemia and embolic infarction within the posterior cerebral circulation in patients with carotid stenosis proximal to the origin of the PPHA. A man presented with severe stenosis of the right internal carotid artery with extension to the origin of a PPHA. The area of stenosis was at a high position, which contraindicated carotid endarterectomy. Therefore, stenting was performed with proximal reversal of flow embolic protection. The unique anatomic and technical challenges associated with this case are reviewed in detail.

NAT1 and NAT2 genetic polymorphisms and environmental exposure as risk factors for oesophageal squamous cell carcinoma: a case-control study.

BACKGROUND: Tobacco smoking and red meat consumption are some of the known risk factors associated with the development of oesophageal cancer. N-acetytransferases (NAT1 and NAT2) play a key role in metabolism of carcinogenic arylamines present in tobacco smoke and overcooked red meat. We hypothesized that NAT1 and NAT2 genetic polymorphisms may influence the risk of oesophageal cancer upon exposure to environmental carcinogens. METHODS: Single nucleotide polymorphisms (SNPs) in the NAT1 and NAT2 genes were investigated by genotyping 732 cases and 768 healthy individuals from two South African populations to deduce the acetylator phenotype (slow, intermediate or rapid) from the combination of the genotyped SNPs. RESULTS: The 341 CC genotype (rs1801280) was significantly associated with a reduced risk for oesophageal cancer in the Mixed Ancestry population (OR = 0.31; 95% CI 0.11-0.87). The NAT2 slow/intermediate acetylator status significantly increased the risk among cigarette smokers in the Black population (OR = 2.76; 95% CI 1.69-4.52), as well as among alcohol drinkers in the Mixed Ancestry population (OR = 2.77; 95% CI 1.38-5.58). Similarly, the NAT1 slow/intermediate acetylator status was a risk factor for tobacco smokers in the Black population (OR = 3.41; 95% CI 1.95-5.96) and for alcohol drinkers in the Mixed Ancestry population (OR = 3.41; 95% CI 1.70-6.81). In a case-only analysis, frequent red meat consumption was associated with a significantly increased cancer risk for NAT2 slow/intermediate acetylators in the Mixed Ancestry population (OR = 3.55; 95% CI 1.29-9.82; P = 0.019), whereas daily white meat intake was associated with an increased risk among NAT1 slow/intermediate acetylators in the Black population (OR = 1.82; 95% CI 1.09-3.04; P = 0.023). CONCLUSIONS: Our findings indicate that N-acetylation polymorphisms may modify the association between environmental risk factors and oesophageal cancer risk and that N-acetyltransferases may play a key role in detoxification of carcinogens. Prevention strategies in lifestyle and dietary habits may reduce the incidence of oesophageal cancer in high-risk populations.

Open retrograde endovascular stenting for left common carotid artery dissection secondary to surgical repair of acute aortic dissection: a case report and review of the literature.

A 30-year-old male presented with an acute aortic artery dissection (Stanford type A) and underwent total arch replacement using a stented elephant trunk technique. One month later, the patient developed dissections in the innominate and left common carotid artery (CCA). The innominate artery dissection caused occlusion in the right internal carotid artery (ICA) and a major stroke. Dissection of the left CCA progressed and extended to the bifurcation site. Antegrade access for a left carotid intervention was deemed as difficult because of the previously implanted stent and the additional risks of embolic events and dissection enlargement. Hybrid procedures combining left carotid bifurcation exposure and retrograde endovascular stenting were successfully completed. This report is a rare case of retrograde endovascular reconstruction for the left CCA dissection following surgical repair of an aortic artery dissection. Here, we also review previous cases of iatrogenic carotid dissections following surgical intervention.

Haplotype phasing of CYP2D6: an allelic ratio method using Agena MassARRAY data.

Pharmacogenomics aims to use the genetic information of an individual to personalize drug prescribing. There is evidence that pharmacogenomic testing before prescription may prevent adverse drug reactions, increase efficacy, and reduce cost of treatment. CYP2D6 is a key pharmacogene of relevance to multiple therapeutic areas. Indeed, there are prescribing guidelines available for medications based on CYP2D6 enzyme activity as deduced from CYP2D6 genetic data. The Agena MassARRAY system is a cost-effective method of detecting genetic variation that has been clinically applied to other genes. However, its clinical application to CYP2D6 has to date been limited by weaknesses such as the inability to determine which haplotype was present in more than one copy for individuals with more than two copies of the CYP2D6 gene. We report application of a new protocol for CYP2D6 haplotype phasing of data generated from the Agena MassARRAY system. For samples with more than two copies of the CYP2D6 gene for which the prior consensus data specified which one was present in more than one copy, our protocol was able to conduct CYP2D6 haplotype phasing resulting in 100% concordance with the prior data. In addition, for three reference samples known to have more than two copies of CYP2D6 but for which the exact number of CYP2D6 genes was unknown, our protocol was able to resolve the number for two out of the three of these, and estimate the likely number for the third. Finally, we demonstrate that our method is applicable to CYP2D6 hybrid tandem configurations.