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The paediatric rheumatologist and orphan disease - a story without happy ending.

Reumatologia

Roszkiewicz J, Biernacka-Zielińska M, Smolewska E.
PMID: 27504025
Reumatologia. 2016;54(3):141-5. doi: 10.5114/reum.2016.61216. Epub 2016 Jul 18.

Orphan diseases are not a common challenge in the everyday practice of the rheumatologist. Despite their extremely rare occurrence one of the patients under our care developed one of them - neuronal ceroid lipofuscinosis, the most frequent neurodegenerative disease...

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Roszkiewicz J, Biernacka-Zielińska M, Smolewska E. The paediatric rheumatologist and orphan disease - a story without happy ending. Reumatologia. 2016;54(3):141-5doi: 10.5114/reum.2016.61216.
Roszkiewicz, J., Biernacka-Zielińska, M., & Smolewska, E. (2016). The paediatric rheumatologist and orphan disease - a story without happy ending. Reumatologia, 54(3), 141-5. https://doi.org/10.5114/reum.2016.61216
Roszkiewicz, Justyna, et al. "The paediatric rheumatologist and orphan disease - a story without happy ending." Reumatologia vol. 54,3 (2016): 141-5. doi: https://doi.org/10.5114/reum.2016.61216
Roszkiewicz J, Biernacka-Zielińska M, Smolewska E. The paediatric rheumatologist and orphan disease - a story without happy ending. Reumatologia. 2016;54(3):141-5. doi: 10.5114/reum.2016.61216. Epub 2016 Jul 18. PMID: 27504025; PMCID: PMC4967982.
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Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression.

AJNR. American journal of neuroradiology

Löbel U, Sedlacik J, Nickel M, Lezius S, Fiehler J, Nestrasil I, Kohlschütter A, Schulz A.
PMID: 27231226
AJNR Am J Neuroradiol. 2016 Oct;37(10):1938-1943. doi: 10.3174/ajnr.A4816. Epub 2016 May 26.

BACKGROUND AND PURPOSE: Experimental therapies for ceroid lipofuscinosis, neuronal, 2 (CLN2), a genetic disorder of childhood associated with progressive brain atrophy, are currently being developed. Because quantitative descriptions of the natural course of brain volume loss are needed to...

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Löbel U, Sedlacik J, Nickel M, et al. Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression. AJNR Am J Neuroradiol. 2016;37(10):1938-1943doi: 10.3174/ajnr.A4816.
Löbel, U., Sedlacik, J., Nickel, M., Lezius, S., Fiehler, J., Nestrasil, I., Kohlschütter, A., & Schulz, A. (2016). Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression. AJNR. American journal of neuroradiology, 37(10), 1938-1943. https://doi.org/10.3174/ajnr.A4816
Löbel, U, et al. "Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression." AJNR. American journal of neuroradiology vol. 37,10 (2016): 1938-1943. doi: https://doi.org/10.3174/ajnr.A4816
Löbel U, Sedlacik J, Nickel M, Lezius S, Fiehler J, Nestrasil I, Kohlschütter A, Schulz A. Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression. AJNR Am J Neuroradiol. 2016 Oct;37(10):1938-1943. doi: 10.3174/ajnr.A4816. Epub 2016 May 26. PMID: 27231226; PMCID: PMC7960469.
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Histopathologic Findings in the Areas of Orange Pigment Overlying Choroidal Melanomas.

Translational vision science & technology

Garcia MD, Salomao DR, Marmorstein AD, Pulido JS.
PMID: 27190699
Transl Vis Sci Technol. 2016 May 12;5(3):4. doi: 10.1167/tvst.5.3.4. eCollection 2016 May.

PURPOSE: Orange pigment is an important sign of malignancy in melanocytic tumors. There is a question as to whether the pigment accumulation is inside of macrophages or retinal pigment epithelial (RPE) cells. We investigated which cells are involved with...

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Garcia MD, Salomao DR, Marmorstein AD, et al. Histopathologic Findings in the Areas of Orange Pigment Overlying Choroidal Melanomas. Transl Vis Sci Technol. 2016;5(3):4doi: 10.1167/tvst.5.3.4.
Garcia, M. D., Salomao, D. R., Marmorstein, A. D., & Pulido, J. S. (2016). Histopathologic Findings in the Areas of Orange Pigment Overlying Choroidal Melanomas. Translational vision science & technology, 5(3), 4. https://doi.org/10.1167/tvst.5.3.4
Garcia, Maria D, et al. "Histopathologic Findings in the Areas of Orange Pigment Overlying Choroidal Melanomas." Translational vision science & technology vol. 5,3 (2016): 4. doi: https://doi.org/10.1167/tvst.5.3.4
Garcia MD, Salomao DR, Marmorstein AD, Pulido JS. Histopathologic Findings in the Areas of Orange Pigment Overlying Choroidal Melanomas. Transl Vis Sci Technol. 2016 May 12;5(3):4. doi: 10.1167/tvst.5.3.4. eCollection 2016 May. PMID: 27190699; PMCID: PMC4867953.
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Degeneration in Arousal Neurons in Chronic Sleep Disruption Modeling Sleep Apnea.

Frontiers in neurology

Zhu Y, Fenik P, Zhan G, Xin R, Veasey SC.
PMID: 26074865
Front Neurol. 2015 May 26;6:109. doi: 10.3389/fneur.2015.00109. eCollection 2015.

Chronic sleep disruption (CSD) is a cardinal feature of sleep apnea that predicts impaired wakefulness. Despite effective treatment of apneas and sleep disruption, patients with sleep apnea may have persistent somnolence. Lasting wake disturbances in treated sleep apnea raise...

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Zhu Y, Fenik P, Zhan G, et al. Degeneration in Arousal Neurons in Chronic Sleep Disruption Modeling Sleep Apnea. Front Neurol. 2015;6:109doi: 10.3389/fneur.2015.00109.
Zhu, Y., Fenik, P., Zhan, G., Xin, R., & Veasey, S. C. (2015). Degeneration in Arousal Neurons in Chronic Sleep Disruption Modeling Sleep Apnea. Frontiers in neurology, 6109. https://doi.org/10.3389/fneur.2015.00109
Zhu, Yan, et al. "Degeneration in Arousal Neurons in Chronic Sleep Disruption Modeling Sleep Apnea." Frontiers in neurology vol. 6 (2015): 109. doi: https://doi.org/10.3389/fneur.2015.00109
Zhu Y, Fenik P, Zhan G, Xin R, Veasey SC. Degeneration in Arousal Neurons in Chronic Sleep Disruption Modeling Sleep Apnea. Front Neurol. 2015 May 26;6:109. doi: 10.3389/fneur.2015.00109. eCollection 2015. PMID: 26074865; PMCID: PMC4443725.
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Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

Biochimica et biophysica acta

Mole SE, Cotman SL.
PMID: 26026925
Biochim Biophys Acta. 2015 Oct;1852(10):2237-41. doi: 10.1016/j.bbadis.2015.05.011. Epub 2015 May 27.

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults and are grouped together by similar clinical features and the accumulation of autofluorescent storage material. More than a dozen genes containing over...

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Mole SE, Cotman SL. Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim Biophys Acta. 2015;1852(10):2237-41doi: 10.1016/j.bbadis.2015.05.011.
Mole, S. E., & Cotman, S. L. (2015). Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochimica et biophysica acta, 1852(10), 2237-41. https://doi.org/10.1016/j.bbadis.2015.05.011
Mole, Sara E, and Cotman, Susan L. "Genetics of the neuronal ceroid lipofuscinoses (Batten disease)." Biochimica et biophysica acta vol. 1852,10 (2015): 2237-41. doi: https://doi.org/10.1016/j.bbadis.2015.05.011
Mole SE, Cotman SL. Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim Biophys Acta. 2015 Oct;1852(10):2237-41. doi: 10.1016/j.bbadis.2015.05.011. Epub 2015 May 27. PMID: 26026925; PMCID: PMC4567481.
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Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype.

Annals of clinical and translational neurology

Bouchelion A, Zhang Z, Li Y, Qian H, Mukherjee AB.
PMID: 25574475
Ann Clin Transl Neurol. 2014 Dec;1(12):1006-23. doi: 10.1002/acn3.144. Epub 2014 Nov 18.

OBJECTIVE: Nonsense mutations account for 5-70% of all genetic disorders. In the United States, nonsense mutations in the CLN1/PPT1 gene underlie >40% of the patients with infantile neuronal ceroid lipofuscinosis (INCL), a devastating neurodegenerative lysosomal storage disease. We sought...

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Bouchelion A, Zhang Z, Li Y, et al. Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype. Ann Clin Transl Neurol. 2014;1(12):1006-23doi: 10.1002/acn3.144.
Bouchelion, A., Zhang, Z., Li, Y., Qian, H., & Mukherjee, A. B. (2014). Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype. Annals of clinical and translational neurology, 1(12), 1006-23. https://doi.org/10.1002/acn3.144
Bouchelion, Ashleigh, et al. "Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype." Annals of clinical and translational neurology vol. 1,12 (2014): 1006-23. doi: https://doi.org/10.1002/acn3.144
Bouchelion A, Zhang Z, Li Y, Qian H, Mukherjee AB. Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype. Ann Clin Transl Neurol. 2014 Dec;1(12):1006-23. doi: 10.1002/acn3.144. Epub 2014 Nov 18. PMID: 25574475; PMCID: PMC4284126.
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Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin.

Data in brief

Minye HM, Fabritius AL, Vesa J, Peltonen L.
PMID: 27508227
Data Brief. 2016 Jun 23;8:741-9. doi: 10.1016/j.dib.2016.06.027. eCollection 2016 Sep.

The article contains raw and analyzed data related to the research article "Neuronal ceroid lipofuscinosis genes, CLN2, CLN3, CLN5 are spatially and temporally co-expressed in a developing mouse brain" (Fabritius et al., 2014) [1]. The processed data gives an...

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Minye HM, Fabritius AL, Vesa J, et al. Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin. Data Brief. 2016;8:741-9doi: 10.1016/j.dib.2016.06.027.
Minye, H. M., Fabritius, A. L., Vesa, J., & Peltonen, L. (2016). Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin. Data in brief, 8741-9. https://doi.org/10.1016/j.dib.2016.06.027
Minye, Helena M, et al. "Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin." Data in brief vol. 8 (2016): 741-9. doi: https://doi.org/10.1016/j.dib.2016.06.027
Minye HM, Fabritius AL, Vesa J, Peltonen L. Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin. Data Brief. 2016 Jun 23;8:741-9. doi: 10.1016/j.dib.2016.06.027. eCollection 2016 Sep. PMID: 27508227; PMCID: PMC4950137.
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Bis-Retinoid A2E Induces an Increase of Basic Fibroblast Growth Factor via Inhibition of Extracellular Signal-Regulated Kinases 1/2 Pathway in Retinal Pigment Epithelium Cells and Facilitates Phagocytosis.

Frontiers in aging neuroscience

Balmer D, Bapst-Wicht L, Pyakurel A, Emery M, Nanchen N, Bochet CG, Roduit R.
PMID: 28298893
Front Aging Neurosci. 2017 Mar 01;9:43. doi: 10.3389/fnagi.2017.00043. eCollection 2017.

Age-related macular degeneration (ARMD) is the leading cause of vision loss in developed countries. Hallmarks of the disease are well known; indeed, this pathology is characterized by lipofuscin accumulation, is principally composed of lipid-containing residues of lysosomal digestion. The

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Balmer D, Bapst-Wicht L, Pyakurel A, et al. Bis-Retinoid A2E Induces an Increase of Basic Fibroblast Growth Factor via Inhibition of Extracellular Signal-Regulated Kinases 1/2 Pathway in Retinal Pigment Epithelium Cells and Facilitates Phagocytosis. Front Aging Neurosci. 2017;9:43doi: 10.3389/fnagi.2017.00043.
Balmer, D., Bapst-Wicht, L., Pyakurel, A., Emery, M., Nanchen, N., Bochet, C. G., & Roduit, R. (2017). Bis-Retinoid A2E Induces an Increase of Basic Fibroblast Growth Factor via Inhibition of Extracellular Signal-Regulated Kinases 1/2 Pathway in Retinal Pigment Epithelium Cells and Facilitates Phagocytosis. Frontiers in aging neuroscience, 943. https://doi.org/10.3389/fnagi.2017.00043
Balmer, Delphine, et al. "Bis-Retinoid A2E Induces an Increase of Basic Fibroblast Growth Factor via Inhibition of Extracellular Signal-Regulated Kinases 1/2 Pathway in Retinal Pigment Epithelium Cells and Facilitates Phagocytosis." Frontiers in aging neuroscience vol. 9 (2017): 43. doi: https://doi.org/10.3389/fnagi.2017.00043
Balmer D, Bapst-Wicht L, Pyakurel A, Emery M, Nanchen N, Bochet CG, Roduit R. Bis-Retinoid A2E Induces an Increase of Basic Fibroblast Growth Factor via Inhibition of Extracellular Signal-Regulated Kinases 1/2 Pathway in Retinal Pigment Epithelium Cells and Facilitates Phagocytosis. Front Aging Neurosci. 2017 Mar 01;9:43. doi: 10.3389/fnagi.2017.00043. eCollection 2017. PMID: 28298893; PMCID: PMC5331064.
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Catalpol Modulates Lifespan via DAF-16/FOXO and SKN-1/Nrf2 Activation in Caenorhabditis elegans.

Evidence-based complementary and alternative medicine : eCAM

Seo HW, Cheon SM, Lee MH, Kim HJ, Jeon H, Cha DS.
PMID: 25821490
Evid Based Complement Alternat Med. 2015;2015:524878. doi: 10.1155/2015/524878. Epub 2015 Mar 02.

Catalpol is an effective component of rehmannia root and known to possess various pharmacological properties. The present study was aimed at investigating the potential effects of catalpol on the lifespan and stress tolerance using C. elegans model system. Herein,...

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Seo HW, Cheon SM, Lee MH, et al. Catalpol Modulates Lifespan via DAF-16/FOXO and SKN-1/Nrf2 Activation in Caenorhabditis elegans. Evid Based Complement Alternat Med. 2015;2015:524878doi: 10.1155/2015/524878.
Seo, H. W., Cheon, S. M., Lee, M. H., Kim, H. J., Jeon, H., & Cha, D. S. (2015). Catalpol Modulates Lifespan via DAF-16/FOXO and SKN-1/Nrf2 Activation in Caenorhabditis elegans. Evidence-based complementary and alternative medicine : eCAM, 2015524878. https://doi.org/10.1155/2015/524878
Seo, Hyun Won, et al. "Catalpol Modulates Lifespan via DAF-16/FOXO and SKN-1/Nrf2 Activation in Caenorhabditis elegans." Evidence-based complementary and alternative medicine : eCAM vol. 2015 (2015): 524878. doi: https://doi.org/10.1155/2015/524878
Seo HW, Cheon SM, Lee MH, Kim HJ, Jeon H, Cha DS. Catalpol Modulates Lifespan via DAF-16/FOXO and SKN-1/Nrf2 Activation in Caenorhabditis elegans. Evid Based Complement Alternat Med. 2015;2015:524878. doi: 10.1155/2015/524878. Epub 2015 Mar 02. PMID: 25821490; PMCID: PMC4363898.
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The neuronal ceroid lipofuscinoses: Opportunities from model systems.

Biochimica et biophysica acta

Faller KM, Gutierrez-Quintana R, Mohammed A, Rahim AA, Tuxworth RI, Wager K, Bond M.
PMID: 25937302
Biochim Biophys Acta. 2015 Oct;1852(10):2267-78. doi: 10.1016/j.bbadis.2015.04.022. Epub 2015 Apr 29.

The neuronal ceroid lipofuscinoses are a group of severe and progressive neurodegenerative disorders, generally with childhood onset. Despite the fact that these diseases remain fatal, significant breakthroughs have been made in our understanding of the genetics that underpin these...

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Faller KM, Gutierrez-Quintana R, Mohammed A, et al. The neuronal ceroid lipofuscinoses: Opportunities from model systems. Biochim Biophys Acta. 2015;1852(10):2267-78doi: 10.1016/j.bbadis.2015.04.022.
Faller, K. M., Gutierrez-Quintana, R., Mohammed, A., Rahim, A. A., Tuxworth, R. I., Wager, K., & Bond, M. (2015). The neuronal ceroid lipofuscinoses: Opportunities from model systems. Biochimica et biophysica acta, 1852(10), 2267-78. https://doi.org/10.1016/j.bbadis.2015.04.022
Faller, Kiterie M E, et al. "The neuronal ceroid lipofuscinoses: Opportunities from model systems." Biochimica et biophysica acta vol. 1852,10 (2015): 2267-78. doi: https://doi.org/10.1016/j.bbadis.2015.04.022
Faller KM, Gutierrez-Quintana R, Mohammed A, Rahim AA, Tuxworth RI, Wager K, Bond M. The neuronal ceroid lipofuscinoses: Opportunities from model systems. Biochim Biophys Acta. 2015 Oct;1852(10):2267-78. doi: 10.1016/j.bbadis.2015.04.022. Epub 2015 Apr 29. PMID: 25937302.
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"Subpial Fan Cell" - A Class of Calretinin Neuron in Layer 1 of Adult Monkey Prefrontal Cortex.

Frontiers in neuroanatomy

Gabbott PL.
PMID: 27147978
Front Neuroanat. 2016 Apr 13;10:28. doi: 10.3389/fnana.2016.00028. eCollection 2016.

Layer 1 of the cortex contains populations of neurochemically distinct neurons and afferent fibers which markedly affect neural activity in the apical dendritic tufts of pyramidal cells. Understanding the causal mechanisms requires knowledge of the cellular architecture and synaptic...

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Gabbott PL. "Subpial Fan Cell" - A Class of Calretinin Neuron in Layer 1 of Adult Monkey Prefrontal Cortex. Front Neuroanat. 2016;10:28doi: 10.3389/fnana.2016.00028.
Gabbott, P. L. (2016). "Subpial Fan Cell" - A Class of Calretinin Neuron in Layer 1 of Adult Monkey Prefrontal Cortex. Frontiers in neuroanatomy, 1028. https://doi.org/10.3389/fnana.2016.00028
Gabbott, Paul L A. ""Subpial Fan Cell" - A Class of Calretinin Neuron in Layer 1 of Adult Monkey Prefrontal Cortex." Frontiers in neuroanatomy vol. 10 (2016): 28. doi: https://doi.org/10.3389/fnana.2016.00028
Gabbott PL. "Subpial Fan Cell" - A Class of Calretinin Neuron in Layer 1 of Adult Monkey Prefrontal Cortex. Front Neuroanat. 2016 Apr 13;10:28. doi: 10.3389/fnana.2016.00028. eCollection 2016. PMID: 27147978; PMCID: PMC4829592.
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Understanding, Recognizing, and Treating Rett Syndrome.

Medscape women's health

Budden SS.
PMID: 9746685
Medscape Womens Health. 1997 Mar;2(3):3.

Formerly thought to be a neurodegenerative disease, Rett syndrome (RS) is a neurodevelopmental arrest of the brain that almost exclusively affects females and occurs in a variety of racial and ethnic groups worldwide. RS begins in late infancy and...

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Budden SS. Understanding, Recognizing, and Treating Rett Syndrome. Medscape Womens Health. 1997;2(3):3
Budden, S. S. (1997). Understanding, Recognizing, and Treating Rett Syndrome. Medscape women's health, 2(3), 3.
Budden. "Understanding, Recognizing, and Treating Rett Syndrome." Medscape women's health vol. 2,3 (1997): 3.
Budden SS. Understanding, Recognizing, and Treating Rett Syndrome. Medscape Womens Health. 1997 Mar;2(3):3. PMID: 9746685.
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