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1.
Ophthalmic Genet ; 36(1): 39-42, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25365415

ABSTRACT

BACKGROUND: Ophthalmologic studies of Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) have focused mainly on retinal involvement, and so far no anterior segment abnormalities have been described. In the present study, we report the findings of pre-senile cataract in five patients with JNCL. MATERIAL AND METHODS: Our sample consisted of 35 patients (19 males, 16 females) with JNCL associated to the Centre for Rare Disease, Aarhus University Hospital. They represent all patients with JNCL born in Denmark in the period 1971-2003. At the half-yearly routine outpatient visits, the anterior section was examined by ordinary penlight without instillation of a mydriatic, and if abnormalities such as cataracts were detected or suspected, the patients were referred for an ophthalmologic examination including slit lamp examination. Follow up was obtained on all patients referred for ophthalmologic examination. RESULTS: During the study period (1996-2012), five patients were identified with cataract. The patients' average age at detection of cataract was 20.1 + 1.6 years (mean + 2SD). Two of the five patients developed acute glaucoma, and in one case prophylactic cataract surgery was performed. CONCLUSIONS: Cataract formation and a secondary acute glaucoma are complications in JNCL which do occur. We recommend that a complete ophthalmological examination of the anterior segment should be performed routinely in patients with JNCL beyond the age of 16 years of age in order to prevent a painful and harmful acute glaucoma which may occur due to mature cataract formation.


Subject(s)
Cataract/etiology , Glaucoma/etiology , Neuronal Ceroid-Lipofuscinoses/complications , Acute Disease , Adolescent , Cataract/diagnosis , Cataract Extraction , Female , Glaucoma/diagnosis , Humans , Intraocular Pressure , Lens Implantation, Intraocular , Male , Neuronal Ceroid-Lipofuscinoses/diagnosis , Young Adult
2.
Clin Exp Pharmacol Physiol ; 41(6): 423-9, 2014 Jun.
Article in English | MEDLINE | ID: mdl-24684312

ABSTRACT

Intradermal injections of glutamate and capsaicin are attractive to use in human experimental pain models because hyperalgesia and allodynia mimic isolated aspects of clinical pain disorders. The aim of the present study was to investigate the reproducibility of these models. Twenty healthy male volunteers (mean age 24 years; range 18-38 years) received intradermal injections of glutamate and capsaicin in the volar forearm. Magnitudes of secondary pinprick hyperalgesia and brush-evoked allodynia were investigated using von Frey filaments (gauges 10, 15, 60 and 100 g) and brush strokes. Areas of secondary hyperalgesia and allodynia were quantified immediately after injection and after 15, 30 and 60 min. Two identical experiments separated by at least 7 days were performed. Reproducibility across and within volunteers (inter- and intra-individual variation, respectively) was assessed using intraclass correlation coefficient (ICC) and coefficient of variation (CV). Secondary pinprick hyperalgesia was observed as a marked increase in the visual analogue scale (VAS) response to von Frey gauges 60 and 100 g (P < 0.001) after glutamate injection. For capsaicin, secondary pinprick hyperalgesia was detected with all von Frey gauges (P < 0.001). Glutamate evoked reproducible VAS response to all von Frey gauges (ICC > 0.60) and brush strokes (ICC > 0.83). Capsaicin injection was reproducible for secondary hyperalgesia (ICC > 0.70) and allodynia (ICC > 0.71). Intra-individual variability was generally lower for the VAS response to von Frey and brush compared with areas of secondary hyperalgesia and allodynia. In conclusion, glutamate and capsaicin yield reproducible hyperalgesic and allodynic responses, and the present model is well suited for basic research, as well as for assessing the modulation of central phenomena.


Subject(s)
Capsaicin/administration & dosage , Glutamic Acid/administration & dosage , Hyperalgesia/chemically induced , Pain Measurement , Sensory System Agents/administration & dosage , Adolescent , Adult , Capsaicin/adverse effects , Glutamic Acid/adverse effects , Humans , Hyperalgesia/pathology , Injections, Intradermal , Male , Physical Stimulation , Reproducibility of Results , Sensory System Agents/adverse effects , Touch , Young Adult
3.
Br J Clin Pharmacol ; 76(6): 951-63, 2013 Dec.
Article in English | MEDLINE | ID: mdl-23521205

ABSTRACT

AIMS: To compare results from analysis of averaged and single-sweep evoked brain potentials (EPs) by visual inspection and spectral analysis in order to identify an objective measure for the analgesic effect of buprenorphine and fentanyl. METHODS: Twenty-two healthy males were included in a randomized study to assess the changes in EPs after 110 sweeps of painful electrical stimulation to the median nerve following treatment with buprenorphine, fentanyl or placebo patches. Bone pressure, cutaneous heat and electrical pain ratings were assessed. EPs and pain assessments were obtained before drug administration, 24, 48, 72 and 144 h after beginning of treatment. Features from EPs were extracted by three different approaches: (i) visual inspection of amplitude and latency of the main peaks in the average EPs, (ii) spectral distribution of the average EPs and (iii) spectral distribution of the EPs from single-sweeps. RESULTS: Visual inspection revealed no difference between active treatments and placebo (all P > 0.05). Spectral distribution of the averaged potentials showed a decrease in the beta (12-32 Hz) band for fentanyl (P = 0.036), which however did not correlate with pain ratings. Spectral distribution in the single-sweep EPs revealed significant increases in the theta, alpha and beta bands for buprenorphine (all P < 0.05) as well as theta band increase for fentanyl (P = 0.05). For buprenorphine, beta band activity correlated with bone pressure and cutaneous heat pain (both P = 0.04, r = 0.90). CONCLUSION: In conclusion single-sweep spectral band analysis increases the information on the response of the brain to opioids and may be used to identify the response to analgesics.


Subject(s)
Analgesics, Opioid/pharmacology , Brain/drug effects , Buprenorphine/pharmacology , Electroencephalography/drug effects , Evoked Potentials/drug effects , Fentanyl/pharmacology , Adult , Analgesics, Opioid/administration & dosage , Analgesics, Opioid/therapeutic use , Brain/physiopathology , Buprenorphine/administration & dosage , Buprenorphine/therapeutic use , Cross-Over Studies , Data Interpretation, Statistical , Double-Blind Method , Electric Stimulation , Evoked Potentials/physiology , Fentanyl/administration & dosage , Fentanyl/therapeutic use , Healthy Volunteers , Humans , Male , Pain/drug therapy , Pain/physiopathology , Pain Measurement , Transdermal Patch , Young Adult
4.
Eur J Paediatr Neurol ; 17(3): 265-8, 2013 May.
Article in English | MEDLINE | ID: mdl-23177590

ABSTRACT

BACKGROUND: Juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) is characterized by progressive visual failure starting at 4-7 years of age, followed by seizures, dementia as well as a progressive decline in motor function. The patients are typically bedridden in the late teens and death usually occurs in the third decade of life. It has been suggested, that females may have a more precipitous decline than do males. OBJECTIVE: To compare sex differences in loss of skills and age at death in an unselected population of Danish Adolescents with Batten disease. METHOD: Review of hospital records of all 35 Danish patients with JNCL born in the period 1971-2003. The records contain a continuously maintained history of the clinical course and first moments for different events, thus eliminating recall bias. RESULTS: We found that females with JNCL experienced a later age at diagnosis, but showed an earlier loss of independent functions, and died at an earlier age. CONCLUSION: Females with JNCL have a more precipitous decline than males, and die at an earlier age. Further studies are needed in order to provide possible explanations for this difference.


Subject(s)
Neuronal Ceroid-Lipofuscinoses/physiopathology , Severity of Illness Index , Adolescent , Adult , Child , Denmark , Female , Hospital Records , Humans , Male , Neuronal Ceroid-Lipofuscinoses/mortality , Neuronal Ceroid-Lipofuscinoses/pathology , Retrospective Studies , Sex Factors , Young Adult
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