Oral signs in the diagnosis of celiac disease: review of the literature.

This study explores the possibility that the celiac disease (CD) may be correlated with the insurgence of some oral signs, as based on a systematic review of the literature. Should this correlation be proven, any dentistry's screening would then be important to diagnose early celiac sprue pathogenesis. A literature survey was accomplished by using the Medline database (Entrez PubMed). The survey, which covered the period from the year 1972 to 2009, provided 382 published articles. Of these, 29 articles were selected according to inclusionary/exclusionary criteria, and consequently qualified for the final review analysis. Manual searching through the reference lists of the selected articles allowed the obtainment of others 17 articles. Findings gathered through this literature's review corroborate the significance of a causal relationship between some oral signs and CD. There are enough evidence making the correlation between CD and oral defects scientifically sustainable. This recognition should lead dentists to play more significant roles in screening for CD, as otherwise, if not properly diagnosed and not treated with a gluten-free diet, may eventually cause some malignancies.

Vitiligo: ocular and electrophysiological findings.

AIM: The aim of this study was to analyze the involvement of the retinal pigment epithelium (RPE) and optic nerve in patients with vitiligo (N.=40, 12 males and 28 females, age 12-82 years; average 45.8). METHODS: The dermatological and ophthalmological examinations have been followed by electro-oculography (EOG) and pattern visual evoked potential (VEP) tests. RESULTS: The results of the fundus examination were normal, showing no characteristics that might be considered typical of vitiligo. Sixteen patients had an altered VEP (9 with amplitude reduction, 7 with amplitude reduction and increased latency); 4 patients showed only an Arden Index (AI) > or =180; and 4 patients showed both an altered VEP and AI < or =180. EOG detected 1 pathological case (AI < or =160); 7 subnormal patients (AI 160-180); and 32 normal patients (AI > or =180). The mean AI was 249 in the vitiligo patients compared to 277.2 in the normal controls. Patients with both an altered VEP and an abnormal EOG had higher than average skin involvement and a longer disease duration, and the alterations in VEP (amplitude and latency) were much more marked than in the other patients. CONCLUSION: These results confirm that the simultaneous presence of abnormal VEP and EOG is characteristic of severe disease. Patients with only a pathological VEP (N.=12) had a noticeably longer mean disease duration, while those only with AI < or =180 showed a slightly higher degree of skin involvement. It may be concluded that patients with more extensive skin involvement and a longer disease duration will also exhibit more markedly negative ocular electro-physiologic findings. Pattern VEP and EOG offer useful tools to evaluate the evolution of vitiligo, because they can detect subclinical involvement of the optic nerve and RPE. The results of these two tests are correlated with the disease duration and extent of cutaneous involvement.

Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study.

BACKGROUND: Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Central nervous system (CNS) manifestations consist mainly of cerebrovascular events. Brain MRI results are often abnormal. PURPOSE: The aim of the study was to describe CNS involvement in a group of Italian patients with AFD. METHODS: Clinical and brain MRI data of 43 patients with AFD (25 men, 41.94+/-10.83 years old and 18 women, 52.48+/-17.50 years old) were analysed retrospectively. 17 male patients and 7 female patients were under treatment with enzyme replacement therapy (ERT). RESULTS: All 43 patients had signs or symptoms of AFD. 16 men (64%) and 13 women (72%) demonstrated CNS involvement, although with varying severity. Overall, 6 men and 5 women had suffered from cerebrovascular accidents with an age at onset of 33.64+/-13.65 years and 53.68+/-11.71 years, respectively. Brain MR images were abnormal in 16/25 men and in 13/16 women. During CNS monitoring, some patients receiving ERT (5/17 men and 2/6 women) demonstrated neurological deterioration, especially those who had presented with cerebrovascular disease already before starting ERT. CONCLUSIONS: The study demonstrated a high frequency of CNS involvement in homozygous and heterozygous AFD patients, often characterised by early age at onset and abnormal brain MRIs. At present, ERT is widely used; however, potential beneficent effects may be disguised by the progression of irreversible pathology in short-term follow-up. Therefore, primary and secondary prophylaxes of cerebrovascular disease are extremely important.

Efficacy of intranasal administration of neostigmine in myasthenic patients.

The efficacy of intranasally administered neostigmine was tested in 22 patients with generalized myasthenia gravis (MG). Topical therapy to the highly vascularized oropharynx proved to be quickly effective in 5-15 min both clinically and electrophysiologically. Twenty-eight MG patients were then recruited from different centres and their morning doses of oral pyridostigmine were substituted with intranasal neostigmine over a period of 2 or 3 weeks. Intranasal neostigmine proved to be equally efficacious in this regimen. No side-effect was noted even in 4 patients treated in this way for 1 year. Intranasal administration of anti-acetylcholinesterase may be very beneficial: (1) for patients with irregular absorption of oral doses; (2) early in the morning and every time a fast and temporary effect is needed; (3) in bulbar impairment and emergencies, in which a handy atomizer may be life-saving.

Oral thyrotropin-releasing hormone treatment in inherited ataxias.

We studied the effectiveness of orally administered thyrotropin-releasing hormone (TRH) (40 mg/day) for 10 days against placebo in 11 patients with hereditary ataxias (HA). All patients completed the trial and none reported any noticeable side effects. A clinical rating scale for inherited ataxias and the Northwestern University Disability Scale for clinical disability showed no significant variation over the duration of the study. Manual dexterity, studied with the peg board test, showed a significant improvement after TRH compared with basal values, which persisted after washout. Eye movement alterations, as revealed by electroculography were reduced after TRH and washout when compared with placebo and basal scores. Hormonal monitoring showed only a transitory effect on the hypothalamus-hypophysis-thyroid axis. These results demonstrate that orally administered TRH has a mild but significant effect only on some cerebellar symptoms in HA.

Thalidomide for improving cutaneous and pulmonary sarcoidosis in patients resistant or with contraindications to corticosteroids.

BACKGROUND: Limited data report thalidomide improves cutaneous sarcoidosis; no benefit has been reported for pulmonary localization. OBJECTIVES: To evaluate feasibility and efficacy of prolonged treatment with thalidomide for cutaneous sarcoidosis associated to pulmonary involvement in patients with resistance or contraindications to steroids. METHODS: Nineteen patients were treated with thalidomide for 24 months starting with 200 mg/d for first 2 weeks, followed by 100 mg/d for 11 weeks and a maintenance dose of 100mg on alternate days for 35 weeks, and a gradual scaling down until therapy interruption. Criteria of efficacy were: skin score, serum ACE levels (s-ACE), chest X-ray (CXR), lung function tests (LFTs), and diffusing lung capacity for CO (DLCO). The skin score was computed as arithmetic sum of seven score parameters (min: 0, max: 28). RESULTS: Skin score significantly decreased (P<0.001). Lower skin scores occurred after 3 and 6 months (P<0.05). s-ACE levels decreased over time at the third month (P<0.001). CXR assessed by radiological stage significantly improved during the first 6 months (P<0.001). DLCO showed a continuous trend of improvement. Minor side effects that have forced the suspension of the drug were drowsiness/sedation (74%), constipation (68%), and weight gain (53%). Deep vein thrombosis of the lower limbs occurred in one patient (who did not drop out the study). Eight patients (42%) abandoned thalidomide for axonal sensitive peripheral neuropathy (PN) between the ninth and the 24th month of treatment. CONCLUSIONS: Thalidomide, long-term at mid-low doses, can be considered as an effective therapeutic alternative in chronic sarcoidosis with resistance or contraindications to steroids.

Pattern VEP alterations in psoriatic patients may indicate a sub clinic optic neuritis.

We examined 44 subject (Group A) of both sexes (27 males and 17 females) aging between 16 and 80 (average: 45+/-16.6), divided into age bands, affected by mild-medium psoriasis with PASI (psoriasis area and severity index) between 1.2 and 48.6 (average: 11.2+/-9.7) without any other disease and we performed pattern transient VEP (Visual Evoked Potential) at the frequencies usually used in clinical experience (73', 36', 18' check size). For a good statistic comparison we choose 55 healthy subjects (group B) divided into age bands on which we performed the same test. Comparison of VEP parameters between psoriatic and healthy subjects, showed in group A 10 normal (22.7%) and 34 pathological (77.3%). In the latter group there are 16 subjects who show only a P100 reduced amplitude (36.3%), 3 with only increased latency (6.8%), 15 with alterations of both values (34%). The achieved data show that more than 3/4 of group A subjects have VEP alterations as index of the presence of a sub clinic optic neuritis with a probably toxic autoimmune origin due to the action of TNFalpha, of IgG, of ECP or of other cytokines (IL6, IL7, etc) that are increased in the blood of this patients. The electro physiologic monitoring of optic nerve seems to represent a good routine test to evaluate the global conditions of psoriatic patients.

[Amyotrophic lateral sclerosis with multiple myeloma]. / Sclerosi laterale amiotrofica in corso di mieloma multiplo.

Motor neuron diseases (MND) associations with paraproteinemia, lymphoma, hexosaminidase A deficiency and heavy-metal intoxication are of great interest. A case of amyotrophic lateral sclerosis (SLA) associated with multiple myeloma (monoclonal IgG paraproteinemia and K light chains) is reported. The detection of abnormal protein in 1988 and the increase of its serum level during 1989 were strictly correlated with the beginning and the worsening of the neurological disease. Shy and coll. in 1986 affirmed that association of paraproteins with MND is probably not merely the fortuitous association of a common laboratory abnormality and an uncommon disease. The reported case provides elements for a causal association between paraproteinemia and MND.

Contribution of cerebellum and brainstem in the control of eye movement: evidence from a functional study in a clinical model.

The idiopathic cerebellar ataxias (IDCA) comprise a wide spectrum of neurodegenerative diseases with heterogeneous neuropathology, characterized by the negativity of search for any known genetic mutation. On the basis of both their clinical presentation and their magnetic resonance imaging pattern, patients with IDCA can be subdivided into patients with a purely cerebellar syndrome and atrophy of the cerebellum (IDCA-C) and patients with additional noncerebellar symptoms and atrophy of both cerebellum and brainstem (IDCA-P). The aim of the present study was to evaluate the disaggregated contribution of brainstem and cerebellum in the control of eye movements, by means of an extensive battery of quantitative tests covering most oculomotor subfunctions related to lesions of the cerebellum and the brainstem. The smooth-pursuit movement analysis showed a decrease in gain and magnitude in both subgroups of IDCA with respect to normal controls, without any significant differences in the prevalence pattern between the two subgroups; the mean values of these parameters, however, were significantly lower in IDCA-P than in IDCA-C subjects in both gain (P < 0.01) and magnitude (P < 0.001). No statistically significant difference was observed between the two subgroups in the analysis of saccadic movements or in the other parameters investigated. The distinction between IDCA-P and IDCA-C subgroups has clinical implications, as a poorer prognosis is related to brainstem involvement, which may occur late in the course of the disease. Thus, the possibility to detect the brainstem involvement, also in association with cerebellar impairment, by a relatively simple eye-movement analysis, potentially useful mainly in follow-up investigations, needs to be evaluated further.