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2. Seizures in Sotos syndrome: Phenotyping in 49 patients

Author

Fortin, O, Vincelette, C, Khan, AQ, Berrahmoune, S, Dassi, C, Karimi, M, Scheffer, IE, Lu, J, Davis, K, Myers, KA, Fortin, O, Vincelette, C, Khan, AQ, Berrahmoune, S, Dassi, C, Karimi, M, Scheffer, IE, Lu, J, Davis, K, and Myers, KA

Abstract

We aimed to describe the phenotypic spectrum of seizures in Sotos syndrome, a genetic condition involving overgrowth, macrocephaly, dysmorphic features, and learning disability, in which 60%-90% have NSD1 pathogenic variants. Patients were recruited from clinics and referral from support groups. Those with seizures and a clinical diagnosis of Sotos syndrome were included. Phenotyping data were collected via structured clinical interview and chart review. Forty-nine patients were included. Twenty had NSD1 testing results available; of these, 15 (75%) had NSD1 pathogenic variants. Seizure onset age ranged from 3 months to 12 years. Staring spells (absence or focal impaired awareness seizure) were the most frequently reported semiology (33/49; 67%), followed by febrile seizures (25/49; 51%) and afebrile bilateral tonic-clonic seizures (25/49; 51%). Most patients (33/49; 67%) had multiple seizure types. The majority (33/49; 67%) had seizures controlled on a single antiseizure medication or no medication. Nine (18%) had drug-resistant epilepsy. Epilepsy syndromes included febrile seizures plus, Lennox-Gastaut syndrome, childhood absence epilepsy, and generalized tonic-clonic seizures alone. The seizure phenotype in Sotos syndrome most commonly involves staring spells, afebrile tonic-clonic seizures or febrile convulsions; however, other seizure types may occur. Seizures are typically well-controlled with medication, but drug-resistant epilepsy occurs in a minority.

Published
2021

4. Bleeding symptoms in patients diagnosed as type 3 von willebrand disease: results from 3WINTERS‐IPS, an international and collaborative cross‐sectional study

Author

Tosetto, A., Badiee, Z., Baghaipour, M., Baronciani, L., Battle, J., Berntorp, E., Bodó, I., Budde, U., Castaman, G., Eikenboom, J.C.J., Eshghi, P., Ettorre, C., Goodeve, A., Goudemand, J., Charles Richard Morris, H., Hoorfar, H., Karimi, M., Keikhaei, B., Lassila, R., Leebeek, F.W.G., Lopez Fernandez, M.F., Mannucci, P.M., Mazzucconi, M.G., Morfini, M., Oldenburg, J., Peake, I., Parra Lòpez, R., Peyvandi, F., Schneppenheim, R., Tiede, A., Toogeh, G., Trossaert, M., Zekavat, O., Zetterberg, E.M.K., and Federici, A.B.

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, hemic and lymphatic diseases
Abstract

Background\ud Type 3 von Willebrand’s disease (VWD) patients present markedly reduced levels of von Willebrand factor and factor VIII. Because of its rarity, the bleeding phenotype of type 3 VWD is poorly described, as compared to type 1 VWD.\ud \ud Aims\ud To evaluate the frequency and the severity of bleeding symptoms across age and sex groups in type 3 patients and to compare these with those observed in type 1 VWD patients; to investigate any possible clustering of bleeding symptoms within type 3 patients.\ud \ud Methods\ud We compared the bleeding phenotype and computed the bleeding score (BS) using the MCMDM‐1VWD bleeding questionnaire in patients enrolled in the 3WINTERS‐IPS and MCMDM‐1VWD studies.\ud \ud Results\ud In 223 unrelated type 3 VWD patients, both the BS and the number of clinically relevant bleeding symptoms were increased in type 3 as compared to type 1 VWD patients (15. vs. 6.0 and 5 vs. 3). Intracranial bleeding, oral cavity, hemarthroses, and deep hematomas were at least five‐fold over‐represented in type 3 VWD. A more severe bleeding phenotype was evident in patients having VWF:Ag levels

Published
2020

6. An exploration of the non-iterative time trade off method to value health states

Author

Feng, Y., Hole, A., Karimi, M., Tsuchiya, A., and van Hout, B.A.

Abstract

Time Trade-Off (TTO) usually relies on “iteration”, which is susceptible to bias. Discrete Choice Experiment with duration (or DCETTO) is free of such bias, but respondents find this cognitively more challenging. This paper explores non-iterative TTO with or without lead time: NI(LT)TTO. In NI(LT)TTO respondents see a series of independent pairwise choices without iteration (similar to DCETTO), but one of the two scenarios always involves full health for a shorter duration (similar to TTO). We compare three different “Types” of NI(LT)TTO relative to DCETTO. Each Type is presented in two “Modes”: (a) verbally tabulated (as in a DCE); and (b) with visual aids (as in a TTO). The study has eight survey variants, each with 12 experimental choice tasks and a 13th task with a logically determined answer. Data on the 12 experimental choices from an online survey of 6,618 respondents are modelled, by variant, using conditional logistic regressions. The results indicate that NI(LT)TTO is feasible, but some relatively mild states appear to have implausibly low predicted values, and the range of predicted values is much narrower than in DCETTO. The presentation of NI(LT)TTO tasks needs further improvement.

Published
2018

13. Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies

Author

Napolitano, M., primary, Di Minno, M. N. D., additional, Batorova, A., additional, Dolce, A., additional, Giansily-Blaizot, M., additional, Ingerslev, J., additional, Schved, J.-F., additional, Auerswald, G., additional, Kenet, G., additional, Karimi, M., additional, Shamsi, T., additional, Ruiz de Sáez, A., additional, Dolatkhah, R., additional, Chuansumrit, A., additional, Bertrand, M. A., additional, and Mariani, G., additional

Published
2016
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14. Replacement therapy in inherited factor VII deficiency: occurrence of adverse events and relation with surgery

Author

Napolitano, M., primary, Dolce, A., additional, Batorova, A., additional, Giansily-Blaizot, M., additional, Ingerslev, J., additional, Mirbehbahani, N., additional, Di Minno, M. N. D., additional, Lopez Fernandez, M. F., additional, Karimi, M., additional, Charoenkwan, P., additional, Kavakli, K., additional, and Mariani, G., additional

Published
2015
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42. Impact of inflammation on epigenetic DNA methylation ? a novel risk factor for cardiovascular disease?

Author

Stenvinkel, P., primary, Karimi, M., additional, Johansson, S., additional, Axelsson, J., additional, Suliman, M., additional, Lindholm, B., additional, Heimbürger, O., additional, Barany, P., additional, Alvestrand, A., additional, Nordfors, L., additional, Qureshi, A. R., additional, Ekström, T. J., additional, and Schalling, M., additional

Published
2007
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