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7. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Author

Stamberger, H., Hammer, T.B., Gardella, E., Vlaskamp, D.R.M., Bertelsen, B., Mandelstam, S., Lange, I. de, Zhang, J., Myers, C.T., Fenger, C., Afawi, Z., Fuerte, E.P. Almanza, Andrade, D.M., Balcik, Y., Zeev, B. Ben, Bennett, M.F., Berkovic, S.F., Isidor, B., Bouman, A., Brilstra, E., Ø, L. Busk, Cairns, A., Caumes, R., Chatron, N., Dale, R.C., Geus, C. de, Edery, P., Gill, D., Granild-Jensen, J.B., Gunderson, L., Gunning, B., Heimer, G., Helle, J.R., Hildebrand, M.S., Hollingsworth, G., Kharytonov, V., Klee, E.W., Koeleman, B.P.C., Koolen, D.A., Korff, C., Küry, S., Lesca, G., Lev, D., Leventer, R.J., Mackay, M.T., Macke, E.L., McEntagart, M., Mohammad, S.S., Monin, P., Montomoli, M., Morava, E., Moutton, S., Muir, A.M., Parrini, E., Procopis, P., Ranza, E., Reed, L., Reif, P.S., Rosenow, F., Rossi, M., Sadleir, L.G., Sadoway, T., Schelhaas, H.J., Schneider, A.L., Shah, K., Shalev, R., Sisodiya, S.M., Smol, T., Stumpel, C., Stuurman, K., Symonds, J.D., Mau-Them, F.T., Verbeek, N., Verhoeven, J.S., Wallace, G., Yosovich, K., Zarate, Y.A., Zerem, A., Zuberi, S.M., Guerrini, R., Mefford, H.C., Patel, C., Zhang, Y.H., Møller, R.S., Scheffer, I.E., Stamberger, H., Hammer, T.B., Gardella, E., Vlaskamp, D.R.M., Bertelsen, B., Mandelstam, S., Lange, I. de, Zhang, J., Myers, C.T., Fenger, C., Afawi, Z., Fuerte, E.P. Almanza, Andrade, D.M., Balcik, Y., Zeev, B. Ben, Bennett, M.F., Berkovic, S.F., Isidor, B., Bouman, A., Brilstra, E., Ø, L. Busk, Cairns, A., Caumes, R., Chatron, N., Dale, R.C., Geus, C. de, Edery, P., Gill, D., Granild-Jensen, J.B., Gunderson, L., Gunning, B., Heimer, G., Helle, J.R., Hildebrand, M.S., Hollingsworth, G., Kharytonov, V., Klee, E.W., Koeleman, B.P.C., Koolen, D.A., Korff, C., Küry, S., Lesca, G., Lev, D., Leventer, R.J., Mackay, M.T., Macke, E.L., McEntagart, M., Mohammad, S.S., Monin, P., Montomoli, M., Morava, E., Moutton, S., Muir, A.M., Parrini, E., Procopis, P., Ranza, E., Reed, L., Reif, P.S., Rosenow, F., Rossi, M., Sadleir, L.G., Sadoway, T., Schelhaas, H.J., Schneider, A.L., Shah, K., Shalev, R., Sisodiya, S.M., Smol, T., Stumpel, C., Stuurman, K., Symonds, J.D., Mau-Them, F.T., Verbeek, N., Verhoeven, J.S., Wallace, G., Yosovich, K., Zarate, Y.A., Zerem, A., Zuberi, S.M., Guerrini, R., Mefford, H.C., Patel, C., Zhang, Y.H., Møller, R.S., and Scheffer, I.E.

Abstract

Contains fulltext : 231688.pdf (Publisher’s version ) (Closed access), PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic spectrum of NEXMIF encephalopathy. METHODS: Through an international collaboration, we analyzed the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy. RESULTS: Sixty-three females and 24 males (46 new patients) with NEXMIF encephalopathy were studied, with 30 novel variants. Phenotypic features included developmental delay/ID in 86/87 (99%), seizures in 71/86 (83%) and multiple comorbidities. Generalized seizures predominated including myoclonic seizures and absence seizures (both 46/70, 66%), absence with eyelid myoclonia (17/70, 24%), and atonic seizures (30/70, 43%). Males had more severe developmental impairment; females had epilepsy more frequently, and varied from unaffected to severely affected. All NEXMIF pathogenic variants led to a premature stop codon or were deleterious structural variants. Most arose de novo, although X-linked segregation occurred for both sexes. Somatic mosaicism occurred in two males and a family with suspected parental mosaicism. CONCLUSION: NEXMIF encephalopathy is an X-linked, generalized developmental and epileptic encephalopathy characterized by myoclonic-atonic epilepsy overlapping with eyelid myoclonia with absence. Some patients have developmental encephalopathy without epilepsy. Males have more severe developmental impairment. NEXMIF encephalopathy arises due to loss-of-function variants.

Published
2021

13. A randomised study of screening for colorectal cancer using faecal occult blood testing: results after 13 years and seven biennial screening rounds. (Cancer)

Author

Jorgensen, O.D., Kronborg, O., and Fenger, C.

Subjects
Colorectal cancer -- Diagnosis, Occult blood -- Testing, Health, Diagnosis, Testing
Abstract

Background: Three randomised trials have demonstrated reduction in mortality from colorectal cancer (CRC) by repeated screening with faecal occult blood tests, including the trial presented here, which is the only [...]

Published
2002

32. Variability in plasma concentrations of methylprednisolone 6 days after intrasynovial injection of methylprednisolone acetate in racing horses: A field study.

Author

Machin, J., Duer, W., Maylin, G., Fenger, C., Wilson, D., Ivey, M., Berthold, B., Allison, S., and Tobin, T.

Abstract

Summary: Background: Methylprednisolone (MP) acetate is a commonly used corticosteroid for suppression of inflammation in synovial structures in horses. Its use is often regulated in equine sports by plasma MP concentrations. Objectives: To describe variability in MP plasma concentrations after MP acetate injection in different synovial structures and with co‐administration with hyaluronic acid (HA). Study design: Field study in actively racing horses in three disciplines (Thoroughbred, Standardbred and Quarter Horse). Methods: Seventy‐six horses (15 Thoroughbreds, 20 Standardbreds and 41 Quarter Horses) were included in the study. Injection of any synovial structure with a total body dose of 100 mg MP acetate was permitted, data were grouped according to the synovial structure injected and co‐administration with HA. Plasma was collected before injection and at 6 days post‐injection. Per cent censored data (below the limit of quantification) for each synovial structure were determined, and summary statistics generated by Robust Regression on Order. Differences between synovial structures and co‐administration with HA were identified by ANOVA with Tukey's post hoc testing. Results: The MP plasma concentration at 6 days for injection for the entire group (mean ± standard deviation [s.d.], pg/mL) was 96 ± 104. Metacarpophalangeal (MCP) plasma concentrations contained 86% censored data and could not be included in the statistical analysis. The carpal joints (CJO) group had a lower plasma MP concentration (P<0.05) than the distal tarsal joints (DTJ) or medial femorotibial (MFT), the no HA (NHA) group had a lower plasma MP concentration (P<0.05) than HA. Main limitations: The synovial structures injected varied by racing discipline, so this study was unable to identify any differences between disciplines. Conclusions: Practitioners should be aware that injection of DTJ, CS and MFT joints, and combining MP acetate with HA may prolong its clearance, and withdrawal times for competition in regulated equine sports. [ABSTRACT FROM AUTHOR]

Published
2019
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33. Endogenous versus exogenous exposure to N-nitroso compounds and gastric cancer risk in the European Prospective Investigation into Cancer and Nutrition (EPIC-EURGAST) study

Author

Jakszyn, P., Bingham, S., Pera, G., Agudo, A., Luben, R., Welch, A., Boeing, H., Del Giudice, G., Palli, D., Saieva, C., Krogh, V., Sacerdote, C., Tumino, R., Panico, S., Berglund, G., Siman, H., Hallmans, G., Mj, Sanchez, Larranaga, N., Barricarte, A., Md, Chirlaque, Jr, Quiros, Tj, Key, Carneiro, F., Allen, N., Linseisen, J., Nagel, G., Kim Overvad, Anne Tjønneland, Anja Viendahl Olsen, Hb, Bueno-De-Mesquita, Mo, Ocke, Ph, Peeters, Me, Numans, Clavel-Chapelon, F., Trichopoulou, A., Fenger, C., Stenling, R., Ferrari, P., Jenab, M., Norat, T., Riboli, E., Ca, Gonzalez, Lund, E., Jakszyn, P, Bingham, S, Pera, G, Agudo, A, Luben, R, Welch, A, Boeing, H, Del, Giudice, G, Palli, D, Saieva, C, Krogh, V, Sacerdote, C, Tumino, R, Panico, Salvatore, Berglund, G, Siman, H, Hallmans, G, Sanchez, Mj, Larranaga, N, Barricarte, A, Chirlaque, Md, Quiros, Jr, Key, Tj, Allen, N, Lund, E, Carneiro, F, Linseisen, J, Nagel, G, Overvad, K, Tjonneland, A, Olsen, A, BUENO DE MESQUITA, Hb, Ocke, Mo, Peeters, Ph, Numans, Me, CLAVEL CHAPELON, F, Trichopoulou, A, Fenger, C, Stenling, R, Ferrari, P, Jenab, M, Norat, T, Riboli, E, and Gonzalez, Ca

Published
2006

34. Variation at ABO histo-blood group and FUT loci and diffuse and intestinal gastric cancer risk in a European population

Author

Duell, E.J., Bonet, C., Munoz, X., Lujan-Barroso, L., Weiderpass, E., Boutron-Ruault, M.C., Racine, A., Severi, G., Canzian, F., Rizzato, C., Boeing, H., Overvad, K., Tjonneland, A., Arguelles, M., Sanchez-Cantalejo, E., Chamosa, S., Huerta, J.M., Barricarte, A., Khaw, K.T., Wareham, N., Travis, R.C., Trichopoulou, A., Trichopoulos, D., Yiannakouris, N., Palli, D., Agnoli, C., Tumino, R., Naccarati, A., Panico, S., Bueno-de-Mesquita, H.B., Siersema, P.D., Peeters, P.H.M., Ohlsson, B., Lindkvist, B., Johansson, I., Ye, W., Johansson, M., Fenger, C., Riboli, E., Sala, N., Gonzalez, C.A., Duell, E.J., Bonet, C., Munoz, X., Lujan-Barroso, L., Weiderpass, E., Boutron-Ruault, M.C., Racine, A., Severi, G., Canzian, F., Rizzato, C., Boeing, H., Overvad, K., Tjonneland, A., Arguelles, M., Sanchez-Cantalejo, E., Chamosa, S., Huerta, J.M., Barricarte, A., Khaw, K.T., Wareham, N., Travis, R.C., Trichopoulou, A., Trichopoulos, D., Yiannakouris, N., Palli, D., Agnoli, C., Tumino, R., Naccarati, A., Panico, S., Bueno-de-Mesquita, H.B., Siersema, P.D., Peeters, P.H.M., Ohlsson, B., Lindkvist, B., Johansson, I., Ye, W., Johansson, M., Fenger, C., Riboli, E., Sala, N., and Gonzalez, C.A.

Abstract

Item does not contain fulltext, ABO blood serotype A is known to be associated with risk of gastric cancer (GC), but little is known how ABO alleles and the fucosyltransferase (FUT) enzymes and genes which are involved in Lewis antigen formation [and in Helicobacter pylori (H. pylori) binding and pathogenicity] may be related to GC risk in a European population. The authors conducted an investigation of 32 variants at ABO and FUT1-7 loci and GC risk in a case-control study of 365 cases and 1,284 controls nested within the EPIC cohort (the EPIC-Eurgast study). Four variants (including rs505922) in ABO, and allelic blood group A (AO+AA, odds ratio=1.84, 95%CI=1.20-2.80) were associated with diffuse-type GC; however, conditional models with other ABO variants indicated that the associations were largely due to allelic blood group A. One variant in FUT5 was also associated with diffuse-type GC, and four variants (and haplotypes) in FUT2 (Se), FUT3 (Le) and FUT6 with intestinal-type GC. Further, one variant in ABO, two in FUT3 and two in FUT6 were associated with H. pylori infection status in controls, and two of these (in FUT3 and FUT6) were weakly associated with intestinal-type GC risk. None of the individual variants surpassed a Bonferroni corrected p-value cutoff of 0.0016; however, after a gene-based permutation test, two loci [FUT3(Le)/FUT5/FUT6 and FUT2(Se)] were significantly associated with diffuse- and intestinal-type GC, respectively. Replication and functional studies are therefore recommended to clarify the role of ABO and FUT alleles in H. pylori infection and subtype-specific gastric carcinogenesis.

Published
2015

40. Endogenous versus exogenous exposure to N-nitroso compounds and gastric cancer risk in the European Prospective Investigation into Cancer and Nutrition (EPIC-EURGAST) study

Author

Jakszyn, P. Bingham, S. Pera, G. Agudo, A. Luben, R. Welch, A. Boeing, H. del Giudice, G. Palli, D. Saieva, C. Krogh, V. Sacerdote, C. Tumino, R. Panico, S. Berglund, G. Simán, H. Hallmans, G. Sanchez, M.J. Larrañaga, N. Barricarte, A. Chirlaque, M.D. Quirós, J.R. Key, T.J. Allen, N. Lund, E. Carneiro, F. Linseisen, J. Nagel, G. Overvad, K. Tjonneland, A. Olsen, A. Bueno-de-Mesquita, H.B. Ocké, M.O. Peeters, P.H.M. Numans, M.E. Clavel-Chapelon, F. Trichopoulou, A. Fenger, C. Stenling, R. Ferrari, P. Jenab, M. Norat, T. Riboli, E. Gonzalez, C.A.

Abstract

The risk of gastric cancer (GC) associated with dietary intake of nitrosodimethylamine (NDMA) and endogenous formation of nitroso compounds (NOCs) was investigated in the European Prospective Investigation into Cancer and Nutrition (EPIC). The study included 521 457 individuals and 314 incident cases of GC that had occurred after 6.6 average years of follow-up. An index of endogenous NOC (ENOC) formation was estimated using data of the iron content from meat intake and faecal apparent total NOC formation according to previous published studies. Antibodies to Helicobacter pylori and vitamin C levels were measured in a sub-sample of cases and matched controls included in a nested case-control within the cohort. Exposure to NDMA was

Published
2006

47. Variants of squamous cell carcinoma of the anal canal and perianal skin and their relation to human papillomaviruses

Author

Frisch M, Fenger C, Aj, Den Brule, Sørensen P, Cj, Meijer, Jm, Walboomers, Ho, Adami, mads melbye, and Glimelius B

Subjects
Male, Skin Neoplasms, Age Factors, Middle Aged, Anus Neoplasms, Polymerase Chain Reaction, Predictive Value of Tests, Risk Factors, Carcinoma, Squamous Cell, Humans, Female, Neoplasm Invasiveness, Papillomaviridae, Aged
Abstract

High-risk types of human papillomaviruses (hrHPVs) may be a necessary cause in cervical cancer and in some subtype of anal, vulvar, and penile cancers. Large studies aimed at characterizing hrHPV-associated and non-hrHPV-associated subtypes of anal carcinomas are, however, lacking. We searched for human papillomavirus type 16 and 13 other hrHPVs in tumor tissue by PCR and performed a systematic histological evaluation of specimens from 386 patients with anal cancer (86% invasive; 302 women and 84 men). Cancers in women and homosexual men were more often hrHPV positive (P0.01) and located in the anal canal (Por = 0.01) than were cancers in heterosexual men. In both women and men, anal canal cancers contained hrHPV clearly more often than did perianal skin cancers, and increasing hrHPV positivity was seen with higher localization in the anal canal. Indeed, 95 and 83% of cancers involving the anal canal in women and men, respectively, were hrHPV positive versus 80 and 28% of perianal skin cancers (P-trend0.001). Basaloid feature, adjacent anal intraepithelial neoplasia, poor or absent keratinization, and a predominance of small or medium neoplastic cells were all strongly positively associated with hrHPV status. Like cancer of the uterine cervix, the development of cancer of the anal canal may require infection with hrHPV, whereas a dual etiology of perianal skin cancers bears parallels to vulvar and penile cancers.

Published
1999

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