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Quarter-Shifted Microincisional Sutureless Vitrectomy in Patients with a Glaucoma Drainage Implant or Filtering Bleb.

Quarter-Shifted Microincisional Sutureless Vitrectomy in Patients with a Glaucoma Drainage Implant or Filtering Bleb.

Yonsei medical journal 58(3) 658-661 doi 10.3349/ymj.2017.58.3.658 Abstract When vitrectomy is performed in eyes that have undergone glaucoma surgery, the site of sclerotomy often overlaps with the previous glaucoma operation site. It can lead to serious complications such as postoperative hypotony, leakage, and/or infection. Our technique involves modification of surgeon’s position and two sclerotomy sites 45° away from the original position, with an infusion cannula inserted infranasally to avoid damage to the glaucoma drainage implant or filtering bleb. The modified approach was applied to seven eyes with various indications. Vitrectomy was successfully completed, and there were no sclerotomy site complications, leakage, or hypotony in any case. Good intraocular pressure control was maintained throughout the postoperative course in all...
Pathological Significance of Tissue Trapped in Retrieved OptEase Vena Cava Filter at 18th Day after Installation in Patient with Deep Vein Thrombosis.

Pathological Significance of Tissue Trapped in Retrieved OptEase Vena Cava Filter at 18th Day after Installation in Patient with Deep Vein Thrombosis.

Yonsei medical journal 58(3) 662-664 doi 10.3349/ymj.2017.58.3.662 Abstract The retrievable type of inferior vena cava filter has been widely used to prevent pulmonary thromboembolism in patients with deep vein thrombosis and contraindication of anticoagulation. Physicians make considerable efforts to remove the filter according to the manufacturer and US Food and Drug Administration safety advisory recommendation. However, forced filter retrieval might cause vascular injury within 3 weeks. Herein, we report pathologic and angiographic findings to suggest filter associated vascular injury during forced retrieval just within recommended period in a patient with deep vein...
Hb Heathrow [β103(G5)Phe→Leu], a First Report in an Asian Patient with Erythrocytosis.

Hb Heathrow [β103(G5)Phe→Leu], a First Report in an Asian Patient with Erythrocytosis.

Yonsei medical journal 58(3) 665-667 doi 10.3349/ymj.2017.58.3.665 Abstract Congenital erythrocytosis (CE) is a rare and heterogeneous disease. The high oxygen affinity hemoglobin (Hb) variants are the most common cause of CE. Herein, we report a Korean patient with isolated erythrocytosis. A 25-year-old man was referred to our hospital for evaluation of high Hb level (Hb 20.4 g/dL, hematocrit 58%, reticulocyte count 2.90%, white blood cell count 6.83×10⁹/L, and platelet count 195×10⁹/L). Bone marrow biopsy revealed normocellular marrow without myeloproliferative features. JAK2 (V617F, exon 12), CALR (exon 9), and MPL W515K/L mutations were not detected. P₅₀ (partial pressure at which Hb is half saturated with oxygen), which is an indicator of left-shift of oxygen dissociation curve (high oxygen affinity state), was 14.3 mm Hg (reference value 22.6-29.4 mm Hg). He was suspected to have CE. Mutation analysis of the HBB gene revealed the known Hb variant, Hb Heathrow [β103(G5)Phe→Leu]. This is the first report of Hb Heathrow in...
Quantitative Computed Tomographic Volumetry after Treatment of a Giant Intracranial Aneurysm with a Pipeline Embolization Device.

Quantitative Computed Tomographic Volumetry after Treatment of a Giant Intracranial Aneurysm with a Pipeline Embolization Device.

Yonsei medical journal 58(3) 668-671 doi 10.3349/ymj.2017.58.3.668 Abstract Recently developed flow diverters, such as the pipeline embolization device (PED), allow for safe and efficacious treatment of giant intracranial aneurysms, with high occlusion rates and a low incidence of complications. However, incomplete obliteration after PED treatment may lead to aneurysm regrowth and delayed rupture. Herein, we report a case of a partially thrombosed giant aneurysm of the cavernous internal carotid artery that showed progressive recanalization at 1-3 months after application of a PED. We monitored inflow volume in the aneurysm by computed tomographic angiography (CTA) and computed tomographic volumetric imaging (CTVI). Based on the imaging results, rather than applying additional PED, we decided to make the switch from a dual antiplatelet medication to low-dose aspirin alone at 3 months after the treatment; complete obliteration of the aneurysm was noted at 21 months. Similar to the findings in this unusual case, CTA and CTVI may be useful follow-up methods for optimal management of patients with giant intracranial aneurysms after PED...
A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

Yonsei medical journal 58(3) 672-675 doi 10.3349/ymj.2017.58.3.672 Abstract Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by mutations in FOXF1. Herein, we describe a newborn boy with ACD/MPV carrying a novel pathogenic variant of FOXF1. The patient developed respiratory distress and severe pulmonary hypertension on the first day of life. Despite aggressive cardiorespiratory management, including veno-venous extracorporeal membrane oxygenation, his condition deteriorated rapidly, and he died within the first month of his life. Lung histology showed the characteristic features of ACD/MPV at autopsy. Sequence analysis of FOXF1 from genomic DNA obtained from autopsied lung tissue revealed that the patient was heterozygous for a novel missense variant (c.305T>C; p.Leu102Pro). Further analysis of both parents confirmed the de novo occurrence of the variant. To the best of our knowledge, this is the first report of genetically confirmed ACD/MPV in...
Disturbed testicular expression of the estrogen-metabolizing enzymes CYP1A1 and COMT in infertile men with primary spermatogenic failure: possible negative implications on Sertoli cells.

Disturbed testicular expression of the estrogen-metabolizing enzymes CYP1A1 and COMT in infertile men with primary spermatogenic failure: possible negative implications on Sertoli cells.

Andrology 2017 03 235(3) 486-494 doi 10.1111/andr.12346 Abstract Estradiol (E2 ) is normally metabolized to hydroxyestradiols and methoxyestradiols by CYP1A1, CYP1B1 and COMT. However, an altered production of these metabolites by a disturbed expression of these enzymes is associated with reproductive and non-reproductive pathologies. In vitro studies suggest that increased hydroxyestradiols and methoxyestradiols intratesticular generation is related to male infertility, but no studies have explored whether infertile men have a disturbed testicular expression of the enzymes that generate these E2 metabolites. The aim of this study was to assess CYP1A1, CYP1B1 and COMT testicular expression at mRNA and protein level in men with spermatogenic impairment. Seventeen men with primary spermatogenic failure (13 with Sertoli cell-only syndrome and four with maturation arrest) and nine controls with normal spermatogenesis were subjected to testicular biopsy. mRNA was quantified using real-time RT-PCR and protein expression was evaluated using western blot and immunohistochemistry followed by integrated optic density analysis. Besides, the effects of hydroxyestradiols and methoxyestradiols on testosterone-induced transcriptional activity were evaluated in TM4 cells using a luciferase reporter assay system. Our results show that patients with Sertoli cell-only syndrome had significantly elevated COMT expression at the mRNA level, higher COMT immunoreactivity in their seminiferous tubules and increased protein expression of the soluble COMT isoform (S-COMT), whereas patients with maturation arrest had significantly elevated CYP1A1 mRNA levels and higher CYP1A1 immunoreactivity in interstitial space. Finally, 2-hydroxyestradiol decreased testosterone-induced transcriptional activity in Sertoli cells in vitro. In conclusion, male infertility is related to disturbed testicular expression of the enzymes responsible for producing hydroxyestradiols and/or methoxyestradiols. If these changes are related with increased intratesticular hydroxyestradiols and methoxyestradiols...
The number of CAG and GGN triplet repeats in the Androgen Receptor gene exert combinatorial effect on hormonal and sperm parameters in young men.

The number of CAG and GGN triplet repeats in the Androgen Receptor gene exert combinatorial effect on hormonal and sperm parameters in young men.

Andrology 2017 03 235(3) 495-504 doi 10.1111/andr.12344 Abstract Androgen receptor (AR) is a transcription factor that is activated upon binding to testosterone (T) and is implicated in regulating the expression of reproduction-related genes. The human AR gene (Xq11-12) spans 186,588 bp and eight exons. N-terminal transactivation domain of the encoded AR protein harbours two polymorphic stretches of identical amino acids, a polyglutamine tract (encoded by 8-37 CAG-repeats) and a polyglycine tract (encoded by 10-30 GGN-repeats). We set forward to analyse independent and combinatory effects of the length of these repetitive tracts on male reproductive hormones, testicular and sperm parameters in a population-based cohort of Baltic young men (n = 974; aged 20.1 ± 2.1 years). We designed an assay to amplify and detect simultaneously the variants of both polymorphic repeats. The study revealed that elongated AR CAG tract was associated with lower FSH (linear regression: p = 0.0002, effect per repeat -0.056 IU/L). As a novel finding, the carriers of GGN-stretch with ≥24 repeats showed a trend for decreased sperm concentration (p = 0.027). Although neither of the variants exhibited an isolated effect on circulating T, their allelic combinations modulated serum T levels, as well as sperm concentration. The lowest T was measured for men carrying the AR gene with long CAG (n ≥ 25) and short GGN (n ≤ 21) repeat tracts (mean 18.8 vs. 25.5-28.6 nmol/L for the other AR variants, p = 0.017). The lowest sperm concentration was detected among individuals with both elongated repetitive stretches (CAG, n ≥ 25 and GGN, n ≥ 24; mean 49.0 vs. 68.4-72.1 mill/mL for the other variants; p = 0.00059). The innovative study design enabled to clearly demonstrate a combinatory impact of CAG and GGN repeat lengths at male reproductive parameters....
Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies.

Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies.

The Lancet. Neurology 2017 03 2016(5) 351-359 pii S1474-4422(17)30056-X Abstract BACKGROUND People with Parkinson’s disease can show premotor neurochemical changes in the dopaminergic and non-dopaminergic systems. Using PET, we assessed whether dopaminergic and serotonin transporter changes are similar in LRRK2 mutation carriers with Parkinson’s disease and individuals with sporadic Parkinson’s disease, and whether LRRK2 mutation carriers without motor symptoms show PET changes. METHODS We did two cross-sectional PET studies at the Pacific Parkinson’s Research Centre in Vancouver, BC, Canada. We included LRRK2 mutation carriers with or without manifest Parkinson’s disease, people with sporadic Parkinson’s disease, and age-matched healthy controls, all aged 18 years or older. People with Parkinson’s disease were diagnosed by a neurologist with movement disorder training, in accordance with the UK Parkinson’s Disease Society Brain Bank criteria. LRRK2 carrier status was confirmed by bidirectional Sanger sequencing. In the first study, LRRK2 mutation carriers with or without manifest Parkinson’s disease who were referred for investigation between July, 1999, and January, 2012, were scanned with PET tracers for the membrane dopamine transporter, and dopamine synthesis and storage ((18)F-6-fluoro-L-dopa; (18)F-FDOPA). We compared findings with those in people with sporadic Parkinson’s disease and age-matched healthy controls. In the second study, distinct groups of LRRK2 mutation carriers, individuals with sporadic Parkinson’s disease, and age-matched healthy controls seen from November, 2012, to May, 2016, were studied with tracers for the serotonin transporter and vesicular monoamine transporter 2 (VMAT2). Striatal dopamine transporter binding, VMAT2 binding, (18)F-FDOPA uptake, and serotonin transporter binding in multiple brain regions were compared by ANCOVA, adjusted for age. FINDINGS Between January, 1997, and January, 2012, we obtained data for our...
Anatomical reconstruction of the fourth brachymetatarsia with one-stage iliac bone and cartilage cap grafting.

Anatomical reconstruction of the fourth brachymetatarsia with one-stage iliac bone and cartilage cap grafting.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2017 02 2870(5) 666-672 pii S1748-6815(17)30099-2 Abstract BACKGROUND We present a one-stage procedure for lengthening the fourth brachymetatarsia with autogenous iliac bone and cartilage cap grafting for the anatomical reconstruction of the metatarsophalangeal (MTP) joint METHODS: During the last 8 years, 56 feet in 41 patients with congenital brachymetatarsia of the fourth toe were corrected with a one-stage operation to reposition the articular cartilage cap to the distal part of interpositional iliac bone graft at the metatarsal epiphysis. RESULTS The length of the harvested iliac bone graft was 22.9 mm on average. The mean fixation period was 58.5 days, and the mean gain in length and percentage increase was 20.9 mm and 39%, respectively. MRI showed a stable MTP joint over viable cartilage cap in 83.3% of the cases. Mean postoperative American Orthopedic Foot and Ankle Society lesser MTP-interphalangeal score was 82.0. Neither neurovascular impairment nor recurrence of brachymetatarsia occurred in the mean follow-up period of 43.6 months. All patients were satisfied with the postoperative cosmetic results. Thirteen patients (23.2%) complained of limited active dorsiflexion of the fourth toe, and extensor adhesion was released by extensor tenolysis in only one patient. In a single case of nonunion at the bone graft site, additional surgery was not necessary. CONCLUSIONS Anatomical reconstruction of the fourth brachymetatarsia with one-stage interpositional iliac bone and cartilage cap grafting resulted in excellent cosmetic results and a physiologic MTP joint, providing the benefits of one-stage lengthening with a low complication rate. CLINICAL QUESTION/LEVEL OF EVIDENCE Therapeutic,...
Permanent implants for lip augmentation: Results from a retrospective study and presentation of tips and tricks.

Permanent implants for lip augmentation: Results from a retrospective study and presentation of tips and tricks.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2017 02 2770(5) 699-704 pii S1748-6815(17)30083-9 Abstract BACKGROUND Requests for lip augmentation are increasing because of expanding media exposure and consumer needs. Temporary effects can be obtained by several techniques, but a recent procedure consisting of lip prosthesis implantation, offering a permanent result, is emerging. Accordingly, the implantation of solid lip prosthesis represents an innovation in the field of esthetic medicine and surgery. METHODS A total of 100 women with atrophic or hypoplastic lips were treated with lip implants. The treatment was performed in a single session, and controls were scheduled at fixed time intervals. A standard digital photo was used for measurement and analysis. Data concerning patient satisfaction and complications of the technique were collected and analyzed. Variations to the original technique were also discussed. RESULTS Patient evaluation revealed that a permanent and natural result without discomfort for the patient and/or the partner was reached with the implantation of silicone prosthesis in the upper and/or lower lip. Swelling, bruising, and malpositions were the most frequent adverse events. A case of severe edema was reported. Practical tricks acquired through experience were discussed to prevent complications. CONCLUSIONS One of the most widespreading methods for lip remodeling is hyaluronic acid injections. Nevertheless, hyaluronic acid has a variable duration, and it is not always the first choice. This context allowed for the development of other techniques such as the implantation of silicone prosthesis. The advantages of this prosthesis are as follows: safety, definitive result, and reversibility considering the possibility to remove the implanted prosthesis in the case of a...
Objective sensory and functional outcomes at the donor site following endoscopic-assisted sural nerve harvest.

Objective sensory and functional outcomes at the donor site following endoscopic-assisted sural nerve harvest.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2017 02 2870(5) 659-665 pii S1748-6815(17)30101-8 Abstract BACKGROUND The sural nerve is a common choice for a nerve graft. Understanding the potential morbidity associated with its harvest is important. In this study, we describe the objective sensory and functional outcomes associated with endoscopic sural nerve harvest from a combined paediatric and adult population. METHODS Data were collected prospectively from patients attending for follow-up between August 2015 and January 2016, who had previously undergone an endoscopic sural nerve graft harvest. Sensory loss was evaluated using a 5.07 Semmes-Weinstein monofilament. The lower extremity functional scale was used to evaluate the patients’ lower limb function. Statistical comparison was made using the Student’s t-test. RESULTS The outcomes from 46 sural nerve grafts were evaluated. The mean age of the patients was 18.1 years (range 4-45 years old). The mean time since surgery was 4.3 years. Those aged ≤18 years had a significantly smaller area of sensory loss (p = 0.003), which was not related to a difference in foot size. Those who had undergone surgery >6 months previously had a significantly smaller area of sensory loss than those who had undergone...
Differential Diagnosis in Neuroendocrine Neoplasms of the Larynx.

Differential Diagnosis in Neuroendocrine Neoplasms of the Larynx.

Advances in anatomic pathology 24(3) 161-168 doi 10.1097/PAP.0000000000000147 Abstract The differential diagnosis of neuroendocrine neoplasms of the larynx is broad and includes lesions of epithelial, mesenchymal, and neuroectodermal origin. These lesions have overlapping clinical and pathologic aspects and must be carefully considered in the differential diagnosis of laryngeal neoplasms. The prognosis and treatment are also different among these tumor types, which necessitates making these distinctions clinically. The current literature was reviewed to provide updated information regarding the epithelial-derived tumors, including carcinoid, atypical carcinoid, small cell neuroendocrine carcinomas, large cell neuroendocrine carcinoma, and squamous cell carcinoma with neuroendocrine component. These tumors are compared and contrasted with non-epithelial-derived tumors such as paraganglioma and nonmucosal tumors, such as medullary thyroid carcinoma. The morphologic and cytologic features are discussed, along with helpful immunohistochemical and ancillary...
Is the necrosis/wall ADC ratio useful for the differentiation of benign and malignant breast lesions?

Is the necrosis/wall ADC ratio useful for the differentiation of benign and malignant breast lesions?

The British journal of radiology 2017 03 2490(1073) 20160803 doi 10.1259/bjr.20160803 Abstract OBJECTIVE To determine whether the necrosis/wall apparent diffusion coefficient (ADC) ratio is useful for the malignant-benign differentiation of necrotic breast lesions. METHODS Breast MRI was performed using a 3-T system. In this retrospective study, calculation of the necrosis/wall ADC ratio was based on ADC values measured from the necrosis and from the wall of malignant and benign breast lesions by diffusion-weighted imaging (DWI). By synchronizing post-contrast T1 weighted images, the separate parts of wall and necrosis were maintained. All the diagnoses were pathologically confirmed. Statistical analyses were conducted using an independent sample t-test and receiver operating characteristic analysis. The intraclass and interclass correlations were evaluated. RESULTS A total of 66 female patients were enrolled, 38 of whom had necrotic breast carcinomas and 28 of whom had breast abscesses. The ADC values were obtained from both the wall and necrosis. The mean necrosis/wall ADC ratio (± standard deviation) was 1.61 ± 0.51 in carcinomas, and it was 0.65 ± 0.33 in abscesses. The area under the curve values for necrosis ADC, wall ADC and the necrosis/wall ADC ratio were 0.680, 0.068 and 0.942, respectively. A wall/necrosis ADC ratio cut-off value of 1.18 demonstrated a sensitivity of 97%, specificity of 93%, a positive-predictive value of 95%, a negative-predictive value of 96% and an accuracy of 95% in determining the malignant nature of necrotic breast lesions. There was a good intra- and interclass reliability for the ADC values of both necrosis and wall. CONCLUSION The necrosis/wall ADC ratio appears to be a reliable and promising tool for discriminating breast carcinomas from abscesses using DWI....
Correction of tuberous breast deformity: A retrospective study comparing lipofilling versus breast implant augmentation.

Correction of tuberous breast deformity: A retrospective study comparing lipofilling versus breast implant augmentation.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2017 03 0170(5) 585-595 pii S1748-6815(17)30089-X Abstract Breast implants and, more recently, autologous fat grafting are the two most common treatments used to correct tuberous breast deformity (TBD). The post-surgical quality of life between the two techniques is not well demonstrated. This study aimed to compare satisfaction and health-related quality of life in patients affected by TBD between these two techniques. All TBD patients operated between January 2008 and May 2015 were retrospectively identified, and only those treated with implants or lipofilling were included. Satisfaction was evaluated at least 6 months after surgery with the postoperative Breast-Q(®) augmentation module. From January 2008 to May 2015, 62 patients were recruited in our study, and 37 patients were evaluated using a Breast-Q questionnaire after at least 6 months of follow-up. Breast implant-augmented patients were significantly more satisfied concerning the "satisfaction with breasts" module (p = 0.002) and the "satisfaction with outcome" module (p = 0.00008). A question-by-question analysis revealed several interesting and significant differences, showing higher scores in most of the questions in the breast implant group. Patients in the lipofilling group, interestingly, had a mean of 1.6 interventions compared to the mean 1.36 interventions in the implant group (p = 0.23). This reflects the need to perform more surgical sessions in the lipofilling group to achieve a satisfactory result. Our study demonstrated that tuberous breast correction with implants can achieve better satisfaction along with good outcomes than lipofilling usually...
The prognosis of dementia with Lewy bodies.

The prognosis of dementia with Lewy bodies.

The Lancet. Neurology 2017 03 2216(5) 390-398 pii S1474-4422(17)30074-1 Abstract Dementia with Lewy bodies is the second most common form of neurodegenerative dementia, yet scarce evidence is available about its prognosis and natural history, which are crucial to inform clinical practice and research. Patients with dementia with Lewy bodies might have a less favourable prognosis, with accelerated cognitive decline, shorter lifespan, and increased admission to residential care than patients with Alzheimer’s disease. Health-care costs and, importantly, caregiver burden, are also reported to be higher in dementia with Lewy bodies than in Alzheimer’s disease. It is probable that causative factors for this less favourable prognosis are the increased prevalence and early emergence of neuropsychiatric symptoms in patients with dementia with Lewy bodies, and the challenge of accurate diagnosis. Evidence concerning quality of life and hospital admission rates is limited, despite their clinical and economic...
The modified Glasgow prognostic score in patients undergoing surgery for bone and soft tissue sarcoma.

The modified Glasgow prognostic score in patients undergoing surgery for bone and soft tissue sarcoma.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2017 02 2470(5) 618-624 pii S1748-6815(17)30072-4 Abstract BACKGROUND The prognostic significance of markers of the systemic inflammatory response in patients with soft tissue and bone sarcomas remains unclear. Therefore, the present study aimed to compare the prognostic value of markers of the systemic inflammatory response in patients undergoing surgery for primary soft tissue and bone sarcoma. METHOD Patients who underwent resection of primary soft tissue/bone sarcoma between 2008 and 2012 and had pre-operative measurements of the systemic inflammatory response [C-reactive protein, albumin, white cell, neutrophil, lymphocyte and platelet counts, and the combination of C-reactive protein and albumin (mGPS)] were included in the study (n = 111). RESULTS The majority of the patients were ≤50 years old (84%), were female (63%), had soft tissue sarcoma (62%), and had tumours >10 cm (52%), mostly of high grade (85%). The median follow-up of survivors was 50 months (range 34-78); 24 (21%) developed local recurrence, 35 (31%) developed distant metastases and 30 (30%) died of their cancer. On univariate analysis, tumour size...
miRNAs, single nucleotide polymorphisms (SNPs) and age-related macular degeneration (AMD).

miRNAs, single nucleotide polymorphisms (SNPs) and age-related macular degeneration (AMD).

Clinical chemistry and laboratory medicine 55(5) 763-775 doi 10.1515/cclm-2016-0898 Abstract Advanced age-related macular degeneration (AAMD) is a complex sight-threating disease of public health significance. Micro RNAs (miRNAs) have been proposed as biomarkers for AAMD. The presence of certain single nucleotide polymorphisms (SNPs) may influence the explanatory value of these biomarkers. Here we present findings from an integrated approach used to determine whether AAMD-associated SNPs have the capacity to influence miRNA-mRNA pairing and, if so, to what extent such pairing may be manifested in a discrete AAMD transcriptome. Using a panel of 8854 SNPs associated with AAMD at p-values ≤5.0E-7 from a cohort of >30,000 elderly people, we identified SNPs in miRNA target-encoding constituents of: (1) regulator of complement activation (RCA) genes (rs390679, CFHR1, p≤2.14E-214 | rs12140421, CFHR3, p≤4.63E-29); (2) genes of major histocompatibility complex (MHC) loci (rs4151672, CFB, p≤8.91E-41 | rs115404146, HLA-C, p≤6.32E-12 | rs1055821, HLA-B, p≤1.93E-9 | rs1063355, HLA-DQB1, p≤6.82E-14); and (3) genes of the 10q26 AAMD locus (rs1045216, PLEKHA1, p≤4.17E-142 | rs2672603, ARMS2, p≤7.14E-46). We used these findings with existing data on AAMD-related retinal miRNA and transcript profiles for the purpose of making inferences on SNP-mRNA-miRNA-AAMD relationships. Four of 12 miRNAs significantly elevated in AAMD retina (hsa-miR-155-5p, hsa-let-7a-5p, hsa-let-7b-5p hsa-let-7d-5p) also showed strong pairing capacity (TarBase 7.1 context++ score 150) with miRNA target transcripts encoded by AAMD-associated SNPs resident in HLA-DQB1 (rs1063355, hsa-miR-155-5p) and TGFBR1 (rs868, hsa-let-7). Three of the 12 miRNAs overexpressed in AAMD retina are inducible by NFkB and have high affinity targets in the complement factor H (CFH) mRNA 3′ UTR. We used ENSEMBL to identify polymorphic regions in the CFH mRNA 3′ UTR...
Age at First Childbirth and Hypertension in Postmenopausal Women.

Age at First Childbirth and Hypertension in Postmenopausal Women.

Hypertension (Dallas, Tex. : 1979) 2017 03 2769(5) 821-826 doi 10.1161/HYPERTENSIONAHA.117.09182 Abstract Whether age at first childbirth has an effect on hypertension incidence is unclear. The objectives of this study were to examine the relationship between age at first childbirth and hypertension and to examine whether degree of obesity, measured as body mass index, mediates age at first childbirth-related hypertension in postmenopausal women. This study analyzed 4779 postmenopausal women data from the Korea National Health and Nutrition Examination Survey 2010 to 2012. Logistic regression analyses were used to investigate relationship between age at first childbirth and hypertension. Mediation analysis was performed to examine the contribution of body mass index to age at first childbirth-related hypertension. Mean of participants’ age at first childbirth and current age were 23.8 and 63.4 years, respectively. The prevalence of hypertension was 51.1%. Age at first childbirth was significantly associated with the prevalence of hypertension (odds ratio, 0.963; 95% confidence interval, 0.930-0.998; P=0.036). Women with age at first childbirth ≤19 years had significantly higher risk of hypertension (odds ratio, 1.61; 95% confidence interval, 1.17-2.23; P=0.004) compared with those >19 years. Multivariable-adjusted prevalence of hypertension was significantly lower in women who delivered the first infant at 20 to 24 (45.5%), 25 to 29 (46.1%), and ≥30 (39.9%) years compared with those at ≤19 years (58.4%). Body mass index completely mediated age at first childbirth-hypertension relationship (indirect effect: odds ratio, 0.992; 95% confidence interval, 0.987-0.998; P=0.008). Age at first childbirth was significantly associated with hypertension in postmenopausal women. Body mass index mediated the effects of age at first childbirth on...
Sympathetic Nerve Activity in Monozygotic Twins: Identical at Rest but Not During Arousal.

Sympathetic Nerve Activity in Monozygotic Twins: Identical at Rest but Not During Arousal.

Hypertension (Dallas, Tex. : 1979) 2017 03 2769(5) 964-969 doi 10.1161/HYPERTENSIONAHA.117.09079 Abstract Microneurographic recordings of human muscle sympathetic nerve activity responses to sudden sensory stimuli (ie, arousal) have revealed 2 intraindividually reproducible response profiles in healthy young males that predict different neural and blood pressure responses to more sustained stress. Approximately 50% of subjects inhibit muscle sympathetic nerve activity during arousal, whereas the remaining 50% do not, and the latter group displays a markedly greater blood pressure increase in response to arousal, as well as during and after 3 minutes of mental arithmetic. Studying a group of monozygotic twins (10 pairs, 2 excluded from analysis), the aim of the present study was to evaluate the degree of genetic determination of these sympathetic response profiles. Muscle sympathetic burst incidence at rest was similar in twins, with a within-pair burst incidence ratio of 0.87±0.02 (SEM) compared with 0.73±0.07 found in unrelated pairs (P=0.002), confirming a previous study from our laboratory. In contrast, the sympathetic responses to arousal showed large twin within-pair variance (arousal inhibition ratio 0.56±0.11), which did not significantly differ (P=0.939) from the variance in pairs of unrelated subjects (0.46±0.11). The finding that human muscle sympathetic nerve responses to arousal are less determined by genotype than the resting level of corresponding sympathetic nerve activity suggests that the arousal response pattern is more prone to be altered by environmental factors. This raises the possibility that these intraindividually reproducible sympathetic neural response profiles can be modified in a positive direction from a cardiovascular risk...
Dose-Response Association Between Physical Activity and Incident Hypertension: A Systematic Review and Meta-Analysis of Cohort Studies.

Dose-Response Association Between Physical Activity and Incident Hypertension: A Systematic Review and Meta-Analysis of Cohort Studies.

Hypertension (Dallas, Tex. : 1979) 2017 03 2769(5) 813-820 doi 10.1161/HYPERTENSIONAHA.116.08994 Abstract Despite the inverse association between physical activity (PA) and incident hypertension, a comprehensive assessment of the quantitative dose-response association between PA and hypertension has not been reported. We performed a meta-analysis, including dose-response analysis, to quantitatively evaluate this association. We searched PubMed and Embase databases for articles published up to November 1, 2016. Random effects generalized least squares regression models were used to assess the quantitative association between PA and hypertension risk across studies. Restricted cubic splines were used to model the dose-response association. We identified 22 articles (29 studies) investigating the risk of hypertension with leisure-time PA or total PA, including 330 222 individuals and 67 698 incident cases of hypertension. The risk of hypertension was reduced by 6% (relative risk, 0.94; 95% confidence interval, 0.92-0.96) with each 10 metabolic equivalent of task h/wk increment of leisure-time PA. We found no evidence of a nonlinear dose-response association of PA and hypertension (Pnonlinearity=0.094 for leisure-time PA and 0.771 for total PA). With the linear cubic spline model, when compared with inactive individuals, for those who met the guidelines recommended minimum level of moderate PA (10 metabolic equivalent of task h/wk), the risk of hypertension was reduced by 6% (relative risk, 0.94; 95% confidence interval, 0.92-0.97). This meta-analysis suggests that additional benefits for hypertension prevention occur as the amount of PA...
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