Monthly Archives: December 2014

Rituximab therapy in pemphigus foliaceus: report of 12 cases and review of recent literature.

Posted on December 21, 2014 by de Sena Nogueira Maehara L, Huizinga J, Jonkman MF


Rituximab therapy in pemphigus foliaceus: report of 12 cases and review of recent literature.
Br J Dermatol. 2014 Dec 13;
Authors: de Sena Nogueira Maehara L, Huizinga J, Jonkman MF
Abstract
Pemphigu… Continue reading →






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From epidemiology and genetics to diagnostics, outcome measures, and novel treatments in autoimmune bullous diseases.

Posted on December 21, 2014 by Ludwig RJ, Borradori L, Diaz LA, Hashimoto T, Hertl M, Ibrahim SM, Jonkman MF, Kitajima Y, Murrell DF, Schmidt E, Shimizu H, Stanley JR, Woodley DT, Zillikens D

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From epidemiology and genetics to diagnostics, outcome measures, and novel treatments in autoimmune bullous diseases.
J Invest Dermatol. 2014 Sep;134(9):2298-300
Authors: Ludwig RJ, Borradori L, Diaz… Continue reading →






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Development of repeated sprint ability in talented youth basketball players.

Posted on December 21, 2014 by Te Wierike SC, de Jong MC, Tromp EJ, Vuijk PJ, Lemmink KA, Malina RM, Elferink-Gemser MT, Visscher C


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Development of repeated sprint ability in talented youth basketball players.

J Strength Cond Res. 2014 Apr;28(4):928-34

Authors: te Wierike SC, de Jong MC, Tromp EJ, Vuijk PJ, Lemmink KA, Malina RM, Elferink-Gemser MT, Visscher C

Abstract
Factors affecting repeated sprint ability (RSA) were evaluated in a mixed-longitudinal sample of 48 elite basketball players 14-19 years of age (16.1 ± 1.7 years). Players were observed on 6 occasions during the 2008-09 and 2009-10 seasons. Three following basketball-specific field tests were administered on each occasion: the shuttle sprint test for RSA, the vertical jump for lower body explosive strength (power), and the interval shuttle run test for interval endurance capacity. Height and weight were measured; body composition was estimated (percent fat, lean body mass). Multilevel modeling of RSA development curve was used with 32 players (16.0 ± 1.7 years) who had 2 or more observations. The 16 players (16.1 ± 1.8 years) measured on only 1 occasion were used as a control group to evaluate the appropriateness of the model. Age, lower body explosive strength, and interval endurance capacity significantly contributed to RSA (p ≤ 0.05). Repeated sprint ability improved with age from 14 to 17 years (p ≤ 0.05) and reached a plateau at 17-19 years. Predicted RSA did not significantly differ from measured RSA in the control group (p ≥ 0.05). The results suggest a potentially important role for the training of lower body explosive strength and interval endurance capacity in the development of RSA among youth basketball players. Age-specific reference values for RSA of youth players may assist basketball coaches in setting appropriate goals for individual players.

PMID: 24667248 [PubMed – indexed for MEDLINE]

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Comments on: DRESS syndrome.

Posted on December 11, 2014 by Kardaun SH, Mockenhaupt M, Roujeau JC

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Comments on: DRESS syndrome.
J Am Acad Dermatol. 2014 Nov;71(5):1000-1000.e2
Authors: Kardaun SH, Mockenhaupt M, Roujeau JC
PMID: 25437959 [PubMed – in process]

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[Is the caregiver fit to help Ebola patient?].

Posted on December 11, 2014 by Jungbauer FH, Wulp PB


[Is the caregiver fit to help Ebola patient?].
Ned Tijdschr Geneeskd. 2014;158(0):A8575
Authors: Jungbauer FH, Wulp PB
Abstract
Ebola is an exceptionally risky infection and safety measures are theref… Continue reading →






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Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa.

Posted on December 1, 2014 by Umegaki-Arao N, Pasmooij AM, Itoh M, Cerise JE, Guo Z, Levy B, Gosty?ski A, Rothman LR, Jonkman MF, Christiano AM


Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa.

Sci Transl Med. 2014 Nov 26;6(264):264ra164

Authors: Umegaki-Arao N, Pasmooij AM, Itoh M, Cerise JE, Guo Z, Levy B, Gostyński A, Rothman LR, Jonkman MF, Christiano AM

Abstract
Revertant mosaicism is a naturally occurring phenomenon involving spontaneous correction of a pathogenic gene mutation in a somatic cell. It has been observed in several genetic diseases, including epidermolysis bullosa (EB), a group of inherited skin disorders characterized by blistering and scarring. Induced pluripotent stem cells (iPSCs), generated from fibroblasts or keratinocytes, have been proposed as a treatment for EB. However, this requires genome editing to correct the mutations, and, in gene therapy, efficiency of targeted gene correction and deleterious genomic modifications are still limitations of translation. We demonstrate the generation of iPSCs from revertant keratinocytes of a junctional EB patient with compound heterozygous COL17A1 mutations. These revertant iPSCs were then differentiated into naturally genetically corrected keratinocytes that expressed type XVII collagen (Col17). Gene expression profiling showed a strong correlation between gene expression in revertant iPSC-derived keratinocytes and the original revertant keratinocytes, indicating the successful differentiation of iPSCs into the keratinocyte lineage. Revertant-iPSC keratinocytes were then used to create in vitro three-dimensional skin equivalents and reconstitute human skin in vivo in mice, both of which expressed Col17 in the basal layer. Therefore, revertant keratinocytes may be a viable source of spontaneously gene-corrected cells for developing iPSC-based therapeutic approaches in EB.

PMID: 25429057 [PubMed – in process]

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