ABSTRACT
OBJECTIVE: To assess ocular involvement in the pathophysiology of autosomal dominant compelling helio-ophthalmic outburst syndrome (ACHOOs). METHODS: An interview was conducted with a Caucasian family that showed clinical features of ACHOOs. Twelve of them had photic reflex and were recruited. A complete eye evaluation was made. RESULTS: A dominant autosomal inheritance with mild penetrance was demonstrated, with 67% of the studied subjects showing some degree of prominent corneal nerves. No other eye changes were found. CONCLUSIONS: Prominent corneal nerves may be associated with ACHOOs. The other eye structures studied do not seem to play a role in ACHOOs. Further studies are needed to understand the physiology of the ACHOOs.
Subject(s)
Reflex, Abnormal/radiation effects , Sneezing/genetics , Adolescent , Adult , Age of Onset , Aged , Aged, 80 and over , Child , Female , Genes, Dominant , Humans , Male , Middle Aged , Ophthalmic Nerve/ultrastructure , Pedigree , Photic Stimulation , Reflex/genetics , Spain , Sunlight , Syndrome , Young AdultABSTRACT
OBJECTIVE: Knowledge about the long-term course of spinal neuronal function after spinal cord injury (SCI) is important if regeneration therapies become available in the future. The objective of this study was to examine the behavior of locomotor EMG activity and of spinal reflexes in patients with chronic motor-complete SCI. METHODS: EMG activity from rectus femoris (RF), biceps femoris (BF), medial gastrocnemius (GM) and tibialis anterior (TA) of both sides was investigated during locomotor movements assisted by a robotic device in 10 chronic (>1 year after accident) complete SCI and 5 healthy subjects. H-reflexes (recorded from GM) were induced during the onset and flexion reflexes (recorded from BF and TA) at the end of the stance phase. RESULTS: Only in the chronic SCI subjects an exhaustion of EMG activity--i.e. a decrease in amplitude--occurred within a few minutes in all leg muscles. The EMG exhaustion was not associated with a change in the H- or flexion reflex amplitude during a walking session. CONCLUSIONS: Exhaustion of neuronal function in chronic complete SCI might be restricted to unused motor tasks, i.e. locomotion. The fact that H- and flexion reflexes show a normal behavior might be due to the fact that they still become activated. SIGNIFICANCE: Training/pharmalogical approaches may be required to maintain neuronal function of unused tasks as a basis for future successful regeneration therapies.
Subject(s)
H-Reflex/physiology , Locomotion/physiology , Motor Neurons/physiology , Reflex, Abnormal/physiology , Spinal Cord Injuries/pathology , Spinal Cord Injuries/physiopathology , Adult , Chronic Disease , Electric Stimulation/methods , Electromyography/methods , Female , H-Reflex/radiation effects , Humans , Locomotion/radiation effects , Male , Middle Aged , Motor Neurons/radiation effects , Muscle Contraction/physiology , Muscle Contraction/radiation effects , Muscle, Skeletal/physiopathology , Muscle, Skeletal/radiation effects , Reflex, Abnormal/radiation effects , Time Factors , Walking/physiologyABSTRACT
BACKGROUND: Patients with carcinomas of the upper aero-digestive tract often suffer from ear pain as a tumor associated syndrome. This prospective study examines the predictive and prognostic value of this symptom. PATIENTS AND METHODS: Ninety-six consecutive patients who completed a locally radiotherapy of a carcinoma of the oropharynx were prospectively evaluated and followed. Forty-nine out of 96 patients stated the symptom, either spontaneously or after questioning. The 2 groups showed no difference regarding TNM-classification, histology and total dose. Overall survival, local control and disease specific survival were calculated according to Kaplan-Meier and compared by the log-rank test. RESULTS: A clinically complete remission was obtained in significantly fewer patients with reflex-otalgia as compared to patients without reflex-otalgia, 61.2% versus 89.3%, p < 0.002. Local control of patients with reflex-otalgia was significantly less with 49%, mean follow-up 564 days, in comparison to local control in patients without reflex-otalgia, mean follow-up 613 days, p = 0.01. Disease specific survival was significantly worse for patients with reflex-otalgia, p < 0.012. The probability of local control of T1/T2 tumors with reflex-otalgia was similar to T3/T4 tumors without reflex-otalgia. Local control for all tumor categories combined is 74% for patients without reflex-otalgia versus 49% for patients with reflex-otalgia. CONCLUSION: In our patients, reflex-otalgia is a new and statistically significant parameter for the probability of local control and disease specific survival.
Subject(s)
Carcinoma, Squamous Cell/radiotherapy , Earache/radiotherapy , Oropharyngeal Neoplasms/radiotherapy , Paraneoplastic Syndromes/radiotherapy , Reflex, Abnormal/radiation effects , Adult , Aged , Aged, 80 and over , Carcinoma, Squamous Cell/mortality , Carcinoma, Squamous Cell/pathology , Earache/mortality , Earache/pathology , Female , Humans , Lymphatic Metastasis , Male , Middle Aged , Neoplasm Staging , Oropharyngeal Neoplasms/mortality , Oropharyngeal Neoplasms/pathology , Paraneoplastic Syndromes/mortality , Paraneoplastic Syndromes/pathology , Prognosis , Prospective Studies , Radiotherapy, High-Energy , Survival AnalysisABSTRACT
120 girls were investigated for the efficacy of three methods of treatment: conventional, infrared laser radiation on the projection of the bladder plus He-Ne laser radiation on biologically active points (BAP), red He-Ne laser BAP radiation. All the patients suffered from neurogenic hyperreflexic dysfunctions of the bladder, 99.8% had the diagnosis of vegetovascular dystonia, 94.9% had sympathetic-tonic or mixed patterns. The combined laser exposure brought about the greatest response rate-90.0%.
