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2. P1.25-17 Stereotactic Ablative Body Radiotherapy for Early NSCLC: Changes in Pulmonary Function, Dyspnoea and Quality of Life

Author

Ahn, J., primary, Gee, H., additional, Vinod, S., additional, Graham, P.H., additional, Yeghiaian-Alvandi, R., additional, Chin, Y., additional, Ludbrook, J., additional, Hegi-Johnson, F., additional, Last, A., additional, Dwyer, P., additional, Ong, A., additional, Browne, L.H., additional, Aherne, N., additional, Azzi, M., additional, Ma, X., additional, and Hau, E., additional

Published
2023
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11. Comparative analysis of 2-year outcomes in GRIT and TRUFFLE trials

Author

Ganzevoort, W., Thornton, J. G., Marlow, N., Thilaganathan, B., Arabin, B., Prefumo, F., Lees, C., Wolf, H., Van Bulck, B, Kalakoutis, G M, Sak, P, Schneider, K T M, Karpathios, S E, Major, T, Todros, T, Arduini, D, Flumini, C, Tenore, A C, Roncaglia, N, Frusca, T, Ferretti, G, Weinans, M J N, Roosmalen, J, Slikke, J W, Geijn, H, Pernet, P J M, Wolf, H, Stigter, R H, Wilczynski, J, Vasco, E, Abdullah, M, Novak‐Antolic, Z, Danielian, P, Jenkinson, S D, Welch, C R, Griffin, C, Gee, H, Tuffnell, D, Cresswell, J, Tariq, T, Sengupta, B, Tydeman, G, Churchill, D, Bewley, S, Fusi, L, Lindow, S W, Johal, W, Fairlie, F M, Neales, K, Mason, G, Scudamore, I, Konje, J, Walkinshaw, S A, Griffiths, M, Dawson, A, Mires, G, Johanson, R, Fraser, R B, Ibbs, P Hendy, Steel, S A, Ramsay, M, Robins, J B, Heard, M J, Tonge, H M, Manyonda, I T, Walker, J, Maresh, M, Yoong, A, Soothill, P, Cameron, H, Byrne, D, Beattie, B, Bober, S, Van Damme, M, Kyriakides, S, Pokorna, P, Zimmerman, A, Tsitsikas, H, Mani, E, Bosisio, P, Mastritta, E, Nicocia, M, Fabris, C, Eken, P, De Vries, L, Kubicka, Z, Ramalho, R, Rashid, M, Cerar‐Kornhauser, L, Thomas, S, Elliman, A, Sim, T, Swaminathan, S, Walker, L, McCormick, D, Sibanda, Z, Hughes, J, Kilding, J, O'Hara, A, Harpin, V, Porter, N, Pandey, S, Murtagh, K, Burton, K, MacGregor, R, Stewart, B, Klenke, H, Hallam, P, Kai, N, Graham, M, Harrison, A, Saharia, E, McGhee, T, Rowsell, P, Howie, P, Parmar, Max, Field, D, Grant, A, Steer, P, Breart, G, Levene, M, Torgeson, D, Kitzinger, S, Marlowe, N, Wolke, Dieter, Johnson, A, Arabin, Birgit, Bilardo, Caterina M, Brezinka, Christoph, Cornette, Jerome M J, Derks, Jan B, Diemert, Anke, Duvekot, Johannes J, Ferrazzi, Enrico, Fratelli, Nicola, Frusca, Tiziana, Ganzevoort, Wessel, Hecher, Kurt, Leemhuis, Aleid, Lees, Christoph C, Lobmaier, Silvia, Marlow, Neil, Martinelli, Pasquale, Maso, Gianpaolo, Missfelder‐Lobos, Hannah, Napolitano, Raffaele, Ostermayer, Eva, Papageorghiou, Aris T, Prefumo, Federico, Schlembach, Dietmar, Thilaganathan, Baskaran, Todros, Tullia, Valcamonico, Adriana, Visser, Gerard H A, Wolf, Hans, Kingdom, John, Marsal, Karel, Thornton, Jim, Valensise, Herbert, Athena Institute, APH - Global Health, APH - Quality of Care, Obstetrics and gynaecology, Papageorghiou, AT, Obstetrics and Gynaecology, AR&D - Amsterdam Reproduction & Development, and APH - Digital Health

Subjects
short‐term variation, Technology, FLOW, INFANTS, cardiotocography, ductus venosus, fetal growth restriction, monitoring, short-term variation, Umbilical Arteries, Cohort Studies, 0302 clinical medicine, Obstetrics and gynaecology, Pregnancy, GROWTH RESTRICTION, Cardiotocography, 030212 general & internal medicine, Randomized Controlled Trials as Topic, Fetal Growth Retardation, 030219 obstetrics & reproductive medicine, Radiological and Ultrasound Technology, medicine.diagnostic_test, Obstetrics, Radiology, Nuclear Medicine & Medical Imaging, short term variation, Pregnancy Outcome, Obstetrics & Gynecology, Obstetrics and Gynecology, Gestational age, General Medicine, Original Papers, TRUFFLE Study Group, Settore MED/40, Pulsatile Flow, Gestation, Female, Life Sciences & Biomedicine, INTERVENTION, Blood Flow Velocity, Ductus venosus, Cohort study, medicine.medical_specialty, Birth weight, FETAL HEART-RATE, Ultrasonography, Prenatal, 03 medical and health sciences, SDG 3 - Good Health and Well-being, FETUSES, medicine, Humans, Radiology, Nuclear Medicine and imaging, Obstetrics & Reproductive Medicine, Fetal Death, GRIT Study Group, Original Paper, Fetus, Science & Technology, business.industry, Infant, Newborn, Acoustics, Reproductive Medicine, 1114 Paediatrics and Reproductive Medicine, business
Abstract

Objective To explore the effect on perinatal outcome of different fetal monitoring strategies for early‐onset fetal growth restriction (FGR). Methods This was a cohort analysis of individual participant data from two European multicenter trials of fetal monitoring methods for FGR: the Growth Restriction Intervention Study (GRIT) and the Trial of Umbilical and Fetal Flow in Europe (TRUFFLE). All women from GRIT (n = 238) and TRUFFLE (n = 503) who were randomized between 26 and 32 weeks' gestation were included. The women were grouped according to intervention and monitoring method: immediate delivery (GRIT) or delayed delivery with monitoring by conventional cardiotocography (CTG) (GRIT), computerized CTG (cCTG) only (GRIT and TRUFFLE) or cCTG and ductus venosus (DV) Doppler (TRUFFLE). The primary outcome was survival without neurodevelopmental impairment at 2 years of age. Results Gestational age at delivery and birth weight were similar in both studies. Fetal death rate was similar between the GRIT and TRUFFLE groups, but neonatal and late death were more frequent in GRIT (18% vs 6%; P, This article's abstract has been translated into Spanish and Chinese. Follow the links from the http://onlinelibrary.wiley.com/doi/10.1002/uog.20354/abstract to view the translations. This article has been selected for Journal Club. Click https://www.isuog.org/resource/uog-journal-club-January-2020.html to view slides and discussion points.

Published
2020

24. Approaching St Vincent

Author

Dunne, F., Brydon, P., Proffitt, M., Smith, T., Gee, H., and Holder, R.

Published
2001

33. Epidural analgesia - a cause of transient impairment of the utero-placental circulation?

Author

Olah, K.S.J. and Gee, H.

Subjects
Fetus -- Ultrasonic imaging, Peridural anesthesia -- Complications, Health
Abstract

It is possible that epidural analgesia (pain-relieving drugs injected into the epidural space of the spine) given to women in labor causes the diversion of blood from internal organs, such as the uterus, as the body tries to maintain normal blood pressure. This may be the explanation for the episodes of reduced heart rate (bradycardia) in the fetus, which is often noted after epidural analgesia. To investigate this issue, 15 women were evaluated during epidural 'top-ups', periods when extra doses of analgesia were administered because of return of pain. Doppler ultrasound measurements were obtained on the uteroplacental and fetal circulation at these times, and the maternal blood pressure and pulse rate were also noted. No episodes of fetal bradycardia or changes in the fetal heart rate pattern were found. Blood flow in the umbilical artery did not change. Increases were seen in the systolic and end-diastolic peak velocities (flow rates at those points of the cardiac cycle) and in the time average of the mean velocity in the mother's femoral artery. The results indicate impairment of the uteroplacental circulation soon after a top-up, associated with increased blood flow through the femoral artery. Although transient, this could adversely affect a fetus whose oxygen levels are already insufficient due to other causes. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

34. Scar rupture in labour after previous lower uterine segment caesarean section: the role of uterine activity measurement

Author

Beckley, Sarah, Gee, H., and Newton, J.R.

Subjects
Cesarean section -- Complications, Childbirth -- Complications, Labor, Complicated -- Risk factors, Uterus, Pregnant -- Injuries, Health
Abstract

A cesarean section is a surgical procedure that is used to deliver an infant who cannot be delivered vaginally. The surgery involves making an incision in the mother's abdomen and into the uterus so that the baby can be removed. Following delivery, the uterus begins to heal and a scar forms over the area were the incision was made. Over the last several decades, the number of babies delivered by cesarean section has increased dramatically. In the past, women who underwent cesarean sections were recommended to have all subsequent babies delivered by cesarean section as well. This was recommended because it was thought that the contractions of the uterus that occur during a normal labor during vaginal delivery would cause the scar on the uterus to rupture. Symptoms of scar rupture include abnormal fetal heart rate, vaginal bleeding, and pain. In recent years, several studies have shown that women who undergo a cesarean section can subsequently have a normal labor by vaginal delivery, and that rupture of the scar in the uterus is not a common occurrence. It has been suggested that close monitoring of changes in pressure within the uterus during labor (uterine activity) may be useful in protecting against rupture of the scar. Of the women examined, vaginal delivery was achieved without scar rupture in 65 percent. However, out of 10 cases of uterine scar rupture that were examined in detail, six scar ruptures occurred even though uterine activity was within the normal range. It is concluded that measuring changes in pressure within the uterus during labor does not safeguard against scar rupture. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

41. Characterization of a small molecule modulator of inflammatory cytokine production

Author

Sagar B Kudchodkar, Paolo Fagone, Omkar U Kawalekar, Moonsup Jeong, Christine C Roberts, Hyojin Lee, Youngran Cho, Areum Gil, Yeeun Oh, Bohyun Jeon, Gee Ho Park, Young K Park, Ferdinando Nicoletti, Joel N Maslow, and Kar Muthumani

Subjects
GLS-1027, Pro-inflammatory cytokines, Inflammation, Th17 cells, Type 1 diabetes mellitus, NOD mice, Medicine
Abstract

Abstract In the present study, the effect(s) of the immunomodulatory drug GLS-1027 on various cell types involved in inflammation were investigated. GLS-1027 reduced LPS-stimulated secretion of pro-inflammatory cytokines by macrophage or monocytic cells and cell lines. This reduction was likely due in part to decreased activation of NF-κB family transcription factors and inhibition of p38 MAPK signaling in GLS-1027-treated cells. Independent from its effects on macrophages, GLS-1027 inhibited dendritic cell maturation and differentiation of naïve CD4+ T cells into Th17 cells, reducing the production of typical pro-inflammatory cytokines associated with both processes. In vivo administration of GLS-1027 prevented the development of type 1 diabetes in NOD mice which correlated with reduced serum levels of IL17A in GLS-1027 treated animals and reduced ex vivo production of IL17A from both spleen and lymph-node cells. Overall, our data show that GLS-1027 can reduce inflammation through multiple actions, including the reduction of pro-inflammatory cytokine production by innate immune cells, the inhibition of dendritic cells maturation, and the inhibition of Th17 cells polarization.

Published
2022
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42. Symptom Management for Irritable Bowel Syndrome

Author

Gee H. Kim, Joyce K. Anastasi, and Donald J. McMahon

Subjects
Adult, Male, Abdominal pain, medicine.medical_specialty, Adolescent, Moxibustion, medicine.medical_treatment, Acupuncture Therapy, Pilot Projects, Placebo, Severity of Illness Index, law.invention, Irritable Bowel Syndrome, Bloating, Double-Blind Method, Acupuncturist, Randomized controlled trial, law, medicine, Acupuncture, Humans, Aged, Psychiatric Status Rating Scales, Advanced and Specialized Nursing, business.industry, Gastroenterology, people.profession, Middle Aged, Treatment Outcome, Quality of Life, Clinical Global Impression, Physical therapy, Female, medicine.symptom, people, business
Abstract

The purpose of this pilot study was to assess the effect of an individualized traditional Chinese medicine (TCM) acupuncture and moxibustion (Acu/Moxa) treatment on symptom control in patients with irritable bowel syndrome (IBS) in a preliminary, randomized, sham/placebo-controlled trial. Twenty-nine men and women with IBS were randomized to either individualized Acu/Moxa (treatment group) or sham/placebo Acu/Moxa (control group). All subjects were assessed by a diagnostic acupuncturist for a TCM evaluation and individualized point prescription. Only those subjects assigned to the experimental group received the individually prescribed treatment. The diagnostic acupuncturist did not administer treatments and was blind to treatment assignments. All subjects kept a symptom diary for the duration of the study, enabling measurement of symptom frequency, severity, and improvement. The Clinical Global Impression Scale was administered preintervention to establish baseline severity and on completion of the 4-week, eight-session treatment intervention. After 4 weeks of twice-weekly Acu/Moxa treatment, average daily abdominal pain/discomfort improved whereas the control group showed minimal reduction. This between-group difference adjusted for baseline difference was statistically significant. The intestinal gas, bloating, and stool consistency composite score showed a similar pattern of improvement. The findings indicate that Acu/Moxa treatment shows promise in the area of symptom management for IBS.

Published
2009

43. Psychosocial aspects in cardiac rehabilitation:From theory to practice. a position paper from the cardiac rehabilitation section of the european association of cardiovascular prevention and rehabilitation of the european society of cardiology

Author

Pogosova, N. V., Saner, H., Pedersen, S. S., Cupples, M. E., Gee, H. M. C., Hofer, S., Frank Doyle, Schmid, J. -P, and Kanel, R.

Subjects
Coronary heart disease, Treatment, Psychological stress, Risk factors, Screening, Cardiac rehabilitation, Cardiology and Cardiovascular Medicine, Cardiovascular disease
Abstract

A large body of empirical research shows that psychosocial risk factors (PSRFs) such as low socio-economic status, social isolation, stress, type-D personality, depression and anxiety increase the risk of incident coronary heart disease (CHD) and also contribute to poorer health- related quality of life (HRQoL) and prognosis in patients with establishedCHD. PSRFs may also act as barriers to lifestyle changes and treatment adherence and may moderate the effects of cardiac rehabilitation (CR). Furthermore, there appears to be a bidirectional interaction between PSRFs and the cardiovascular system. Stress, anxiety and depression affect the cardiovascular system through immune, neuroendocrine and behavioural pathways. In turn, CHD and its associated treatments may lead to distress in patients, including anxiety and depression. In clinical practice, PSRFs can be assessed with single-item screening questions, standardised questionnaires, or structured clinical interviews. Psychotherapy and medication can be considered to alleviate any PSRF-related symptoms and to enhance HRQoL, but the evidence for a definite beneficial effect on cardiac endpoints is inconclusive. A multimodal behavioural intervention, integrating counselling for PSRFs and coping with illness should be included within comprehensive CR. Patients with clinically significant symptoms of distress should be referred for psychological counselling or psychologically focused interventions and/or psychopharmacological treatment. To conclude, the success of CR may critically depend on the interdependence of the body and mind and this interaction needs to be reflected through the assessment and management of PSRFs in line with robust scientific evidence, by trained staff, integrated within the core CR team.

Published
2015

44. Regulation of the tumour suppressor PDCD4 by miR-499 and miR-21 in oropharyngeal cancers

Author

Zhang, X, Gee, H, Rose, B, Lee, CS, Clark, J, Elliott, M, Gamble, JR, Cairns, MJ, Harris, A, Khoury, S, Tran, N, Zhang, X, Gee, H, Rose, B, Lee, CS, Clark, J, Elliott, M, Gamble, JR, Cairns, MJ, Harris, A, Khoury, S, and Tran, N

Abstract

© 2016 Zhang et al. Background: The rates of oropharyngeal cancers such as tonsil cancers are increasing. The tumour suppressor protein Programmed Cell Death Protein 4 (PDCD4) has been implicated in the development of various human cancers and small RNAs such as microRNAs (miRNAs) can regulate its expression. However the exact regulation of PDCD4 by multiple miRNAs in oropharyngeal squamous cell carcinoma (SCC) is not well understood. Results: Using two independent oropharyngeal SCC cohorts with a focus on the tonsillar region, we identified a miRNA profile differentiating SCC tissue from normal. Both miR-21 and miR-499 were highly expressed in tonsil SCC tissues displaying a loss of PDCD4. Interestingly, expression of the miRNA machinery, Dicer1, Drosha, DDX5 (Dead Box Helicase 5) and DGCR8 (DiGeorge Syndrome Critical Region Gene 8) were all elevated by greater than 2 fold in the tonsil SCC tissue. The 3'UTR of PDCD4 contains three binding-sites for miR-499 and one for miR-21. Using a wild-type and truncated 3'UTR of PDCD4, we demonstrated that the initial suppression of PDCD4 was mediated by miR-21 whilst sustained suppression was mediated by miR-499. Moreover the single miR-21 site was able to elicit the same magnitude of suppression as the three miR-499 sites. Conclusion: This study describes the regulation of PDCD4 specifically in tonsil SCC by miR-499 and miR-21 and has documented the loss of PDCD4 in tonsil SCCs. These findings highlight the complex interplay between miRNAs and tumour suppressor gene regulation and suggest that PDCD4 loss may be an important step in tonsillar carcinogenesis.

Published
2016

45. Infant wellbeing at 2 years of age in the Growth Restriction Intervention Trial (GRIT)

Author

Thornton, J. G., Hornbuckle, J., Vail, A., Spiegelhalter, D. J., Levene, M., Van Bulck, B., Kalakoutis, G. M., Kralove, Hradec, Sak, P., Schneider, K. T.M., Karpathios, S. E., Major, T., Todros, T., Arduini, D., Tranquilli, A., Flumini, C., Tenore, A. C., Roncaglia, N., Frusca, T., Ferretti, G., Weinans, M. J.N., van Roosmalen, J., van der Slikke, J. W., van Geijn, H., Pernet, P. J.M., Wolf, H., Stigter, R. H., Wilczynski, J., Vasco, E., Abdullah, M., Novak-Antolic, Z., Danielian, P., Jenkinson, S. D., Welch, C. R., Griffin, C., Gee, H., Tuffnell, D., Cresswell, J., Tariq, T., Sengupta, B., Tydeman, G., Kumarendran, M. K., Churchill, D., Bewley, S., Fusi, L., Lindow, S. W., Johal, W., Fairlie, F. M., Neales, K., Mason, G., Scudamore, I., Konje, J., Walkinshaw, S. A., Griffiths, M., Dawson, A., Mires, G., Johanson, R., Fraser, R. B., Hendy Ibbs, P., Steel, S. A., Ramsay, M., Robins, J. B., Heard, M. J., Tonge, H. M., Manyonda, I. T., Walker, J., Maresh, M., Yoong, A., Soothill, P., Cameron, H., Byrne, D., Beattie, B., Bober, S., Lilford, Richard, and Athena Institute

Subjects
Pediatrics, medicine.medical_specialty, Time Factors, Developmental Disabilities, Pregnancy, High-Risk, Gestational Age, law.invention, Child Development, Fetal Organ Maturity, Randomized controlled trial, Obstetrics and gynaecology, SDG 3 - Good Health and Well-being, IUGR, Pregnancy, law, Humans, Medicine, Fetal Death, Fetal Growth Retardation, business.industry, Cerebral Palsy, Infant, Newborn, Gestational age, General Medicine, Odds ratio, Delivery, Obstetric, medicine.disease, Child development, Clinical trial, Child, Preschool, Gestation, Female, business, Follow-Up Studies
Abstract

Background Although delivery is widely used for preterm babies failing to thrive in utero, the effect of altering delivery timing has never been assessed in a randomised controlled trial. We aimed to compare the effect of delivering early with delaying birth for as long as possible. Methods 548 pregnant women were recruited by 69 hospitals in 13 European countries. Participants had fetal compromise between 24 and 36 weeks, an umbilical-artery doppler waveform recorded, and clinical uncertainty about whether immediate delivery was indicated. Before birth, 588 babies were randomly assigned to immediate delivery (n=296) or delayed delivery until the obstetrician was no longer uncertain (n=292). The main outcome was death or disability at or beyond 2 years of age. Disability was defined as a Griffiths developmental quotient of 70 or less or the presence of motor or perceptual severe disability. Analysis was by intention-to-treat. This trial has been assigned the International Standard Randomised Controlled Trial Number ISRCTN41358726. Findings Primary outcomes were available on 290 (98%) immediate and 283 (97%) deferred deliveries. Overall rate of death or severe disability at 2 years was 55 (19%) of 290 immediate births, and 44 (16%) of 283 delayed births. With adjustment for gestational age and umbilical-artery doppler category, the odds ratio (95% CrI) was 1·1 (0·7–1·8). Most of the observed difference was in disability in babies younger than 31 weeks of gestation at randomisation: 14 (13%) immediate versus five (5%) delayed deliveries. No important differences in the median Griffiths developmental quotient in survivors was seen. Interpretation The lack of difference in mortality suggests that obstetricians are delivering sick preterm babies at about the correct moment to minimise mortality. However, they could be delivering too early to minimise brain damage. These results do not lend support to the idea that obstetricians can deliver before terminal hypoxaemia to improve brain development.

Published
2004

46. Real-world evidence on the strategy of olmesartan-based triple single-pill combination in Korean hypertensive patients: a prospective, multicenter, observational study (RESOLVE-PRO)

Author

Il Suk Sohn, Sang-Hyun Ihm, Gee Hee Kim, Sang Min Park, Bum-Kee Hong, Chang Hoon Lee, Sang Hyun Lee, Dae-Il Chang, Sung-Pil Joo, Sang-Chan Lee, Yong-ho Lee, Dong Woon Jeon, Kyung Tae Jung, Si Jae Rhee, Yoon-Jin Cho, Chong-Jin Kim, and Investigators

Subjects
Hypertension, Observational study, Olmesartan, Amlodipine, Hydrochlorothiazide, Real-world, Medicine, Internal medicine, RC31-1245
Abstract

Abstract Background In this prospective, multicenter, non-comparative observational study, the effectiveness and safety of the triple single-pill combination (SPC) of olmesartan/amlodipine/hydrochlorothiazide (OM/AML/HCTZ) were evaluated in a real clinical practice setting in Korean patients with essential hypertension. Methods A total of 3752 patients were enrolled and followed for 12 months after administration of OM/AML/HCTZ. Primary endpoint was change from baseline to month 6 in the mean systolic blood pressure (SBP). Secondary endpoints included changes from baseline in the mean SBP at month 3, 9, 12 and the mean diastolic blood pressure (DBP) at month 3, 6, 9, 12; changes in the mean SBP/DBP according to age and underlying risk factors; and blood pressure control rate (%) at different time points. Adherence to and satisfaction with OM/AML/HCTZ treatment among patients and physicians were assessed by medication possession ratio (MPR) and numeric rating scale, respectively, as exploratory endpoints. Safety was evaluated by the incidence and severity of adverse events (AEs) as well as the discontinuation rate due to AEs. Results OM/AML/HCTZ administration led to significant reductions in the mean SBP/DBP by 11.5/6.6, 12.3/7.0, 12.3/7.2, and 12.8/7.4 mmHg from baseline to month 3, 6, 9 and 12, respectively (P

Published
2021
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47. Accelerated diastolic dysfunction in premenopausal women with rheumatoid arthritis

Author

Gee Hee Kim and Yune-Jung Park

Subjects
Diastolic dysfunction, Rheumatoid arthritis, Premenopausal women, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract Background Disturbances of diastolic function precede systolic heart failure and, although clinically silent, represent the earliest sign of cardiac involvement. Diastolic dysfunction (DD) is associated with age, gender (female), and hypertension. However, little is known about the age-specific incidence rates and risk factors for DD in patients with rheumatoid arthritis (RA). Methods We used standard two-dimensional/Doppler echocardiography to screen for the presence of diastolic dysfunction in 61 patients with RA and 107 healthy subjects. All participants were premenopausal women with no history of hypertension. DD includes an impaired relaxation with or without increased left ventricular (LV) filling pressures, pseudonormal filling, and restrictive filling based on parameters measured using echocardiography. Results The two groups were similar with respect to age (P=0.269). Patients with RA had significantly higher LV mass index, LV filling pressure, and lower E/A velocity than controls. All patients had preserved ejection fraction (EF ≥50%). DD was more common in patients with RA at 47% compared to 26% in the controls (P=0.004). Women with RA in the 30- to 49-year age range were over 3.5 times more likely to have DD than those of similar age in the control group (OR=3.54; 95% CI 1.27 to 9.85). Among patients with RA, high CRP levels were independently associated with DD even after adjustment for cardiovascular risk factors (P=0.009). Conclusions In premenopausal women with RA, DD is much more common and the age of onset is reduced. Early screening of myocardial function may provide an opportunity for preventing future cardiovascular disease.

Published
2021
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48. Exome resequencing reveals ADCK4 mutations as novel causes of steroid-resistant nephrotic syndrome

Author

Ashraf, S., Gee, H. Y., Woerner, S., Xie, L. X., Vega Warner, V., Lovric, S., Fang, H., Song, X., Cattran, D., Avila Casado, C., Paterson, A. D., Nitschke, P., Cochat, C. Bole F. e. y. s. o. t. P., Esteve Rudd, J., Haberberger, B., Allen, S. J., Zhou, W., Airik, R., Otto, E. A., Barua, M., Al Hamed, M. H., Kari, J. A., Evans, J., Bierzynska, A., Saleem, M. A., Bockenhauer, D., Kleta, R., El Desoky, S., Hacihamdioglu, D. O., Gok, F., Wiggins, R. C., Lifton, M. C. h. o. i. R. P., Levy, S., Han, Z., Salviati, Leonardo, Prokisch, H., Williams, D. S., Pollak, M., Clarke, C. F., Pei, Y., Antignac, C., and Hildebrandt, F.

Published
2013

49. Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy

Author

Perrault, I, primary, Halbritter, J, additional, Porath, J, additional, Gerard, X, additional, Braun, D, additional, Gee, H, additional, Fathy, H, additional, Saunier, S, additional, Cormier-Daire, V, additional, Thomas, S, additional, Attié-Bitach, T, additional, Boddaert, N, additional, Taschner, M, additional, Schueler, M, additional, Lorentzen, E, additional, Lifton, R, additional, Otto, E, additional, Bastin, P, additional, Kaplan, J, additional, Hildebrandt, F, additional, and Rozet, JM, additional

Published
2015
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50. Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Author

Saisawat, P., Kohl, S., Hilger, A.C., Hwang, D.Y., Yung Gee, H., Dworschak, G.C., Tasic, V., Pennimpede, T., Natarajan, S., Sperry, E., Matassa, D.S., Stajic, N., Bogdanovic, R., Blaauw, I. de, Marcelis, C.L.M., Wijers, C.H.W., Bartels, E., Schmiedeke, E., Schmidt, D., Marzheuser, S., Grasshoff-Derr, S., Holland-Cunz, S., Ludwig, M., Nothen, M.M., Draaken, M., Brosens, E., Heij, H., Tibboel, D., Herrmann, B.G., Solomon, B.D., Klein, A., Rooij, I.A.L.M. van, Esposito, F., Reutter, H.M., Hildebrandt, F., Saisawat, P., Kohl, S., Hilger, A.C., Hwang, D.Y., Yung Gee, H., Dworschak, G.C., Tasic, V., Pennimpede, T., Natarajan, S., Sperry, E., Matassa, D.S., Stajic, N., Bogdanovic, R., Blaauw, I. de, Marcelis, C.L.M., Wijers, C.H.W., Bartels, E., Schmiedeke, E., Schmidt, D., Marzheuser, S., Grasshoff-Derr, S., Holland-Cunz, S., Ludwig, M., Nothen, M.M., Draaken, M., Brosens, E., Heij, H., Tibboel, D., Herrmann, B.G., Solomon, B.D., Klein, A., Rooij, I.A.L.M. van, Esposito, F., Reutter, H.M., and Hildebrandt, F.

Abstract

Item does not contain fulltext, Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US. However, its genetic etiology remains mostly elusive. VACTERL association is a rare disorder that involves congenital abnormalities in multiple organs including the kidney and urinary tract in up to 60% of the cases. By homozygosity mapping and whole-exome resequencing combined with high-throughput mutation analysis by array-based multiplex PCR and next-generation sequencing, we identified recessive mutations in the gene TNF receptor-associated protein 1 (TRAP1) in two families with isolated CAKUT and three families with VACTERL association. TRAP1 is a heat-shock protein 90-related mitochondrial chaperone possibly involved in antiapoptotic and endoplasmic reticulum stress signaling. Trap1 is expressed in renal epithelia of developing mouse kidney E13.5 and in the kidney of adult rats, most prominently in proximal tubules and in thick medullary ascending limbs of Henle's loop. Thus, we identified mutations in TRAP1 as highly likely causing CAKUT or VACTERL association with CAKUT.

Published
2014

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