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Biomedical subjects

T Fukutake

Publications and source records attributed to T Fukutake.

At least 19 recordsLinked to original sources
PubMed2005

Impaired circadian rhythm of gastric myoelectrical activity in patients with multiple system atrophy.

In order to evaluate gastric motility and its circadian rhythm in patients with multiple system atrophy (MSA) and healthy control subjects, we measured gastric myoelectrical activity (GMA) for 24 hours using a cutaneous electrogastrogram (EGG) recorder in 14 MSA patients and 9 age-matched controls. We analyzed six 10-minute segments of EGG before and after each meal and two 20-minute EGG segments during sleep; three parameters were used for the analysis: dominant frequency (DF), instability coefficient of dominant frequency (ICDF), and dominant power (DP). DF increased during daytime and decreased during sleep in the control, while this circadian variation was blunted in the patients with MSA. The average DF of the eight segments in the MSA patients did not differ from that of the control. Both MSA patients and control subjects did not show the circadian variation of ICDF and DP. The average ICDF of the eight segments in the patients with MSA was significantly decreased when compared with that of the control (p < 0.01). No differences were observed in DP between the two groups. This study indicates that the healthy subjects appear to have a circadian rhythm of DF, and the patients with MSA appear to have impaired circadian rhythm of DF and decreased ICDF possibly due to the degeneration of the central autonomic neurons.

Circadian Rhythm↗
PubMed2005

HyperIgEaemia in patients with juvenile muscular atrophy of the distal upper extremity (Hirayama disease).

BACKGROUND: Juvenile muscular atrophy of the distal upper extremity (Hirayama disease) is characterised by anterior horn cell loss in the lower cervical cord, presumably caused by anterior displacement of the dural sac during neck flexion. A recent report suggests that atopy and IgE may contribute to anterior horn damage. OBJECTIVE: To investigate whether IgE is a contributing factor in Hirayama disease. METHODS: Serum total IgE and allergen specific IgE were examined in 20 consecutive patients, and their correlations with clinical profiles investigated. RESULTS: Past or present history of allergy/atopy was found in only four patients (20%), but serum IgE was raised in 14 (70%). Patients with hyperIgEaemia had more severe clinical disabilities than those without (p = 0.01). In patients whose history of Hirayama disease was less than five years, serum total IgE was higher than in those with the disease for five years or more (p = 0.05). CONCLUSIONS: The results suggest that hyperIgEaemia is often associated with Hirayama disease and can facilitate its pathophysiology, particularly in the early phases of the disease. HyperIgEaemia does not appear to involve the anterior horn cells primarily.

Adolescent↗
PubMed2002

A patient homozygous for the SCA6 gene with retinitis pigmentosa.

The present authors studied a 55-year-old-patient homozygous for the SCA6 gene who experienced frequent attacks of positional vertigo at 37 years of age with subsequent staggering gait and night blindness. Retinitis pigmentosa (RP), as well as cerebellar ataxia and vertical antidirectional nystagmus, were detected. The subject's parents were first cousins, and two of his three male cousins, whose parents were also first cousins, had RP without ataxia or nystagmus. The numbers of CAG repeats in the expanded alleles of the SCA6 gene found by molecular analysis were 21 and 21. The genetic results were negative for SCA1, SCA2, SCA3, SCA7 and dentatorubral pallidoluysian atrophy. The retinal degeneration in this patient is most likely to be secondary to a genetic disorder of autosomal or X-linked recessive inheritance rather than SCA6. Other reported cases of patients homozygous for the SCA6 gene are also reviewed.

Calcium Channels↗
PubMed2002

Homozygous Machado-Joseph disease presenting as REM sleep behaviour disorder and prominent psychiatric symptoms.

A male patient carrying the homozygous gene for Machado-Joseph disease (MJD) presented at age 43 with sleep disturbances and psychiatric symptoms followed by ataxic speech and gait. A polysomnogram (PSG) showed decreased rates of sleep time and stage rapid eye movement (REM) and an increased rate of 'stage 1-REM with tonic EMG' (Tachibana et al., 1975); all compatible with REM sleep behaviour disorder (RBD). Molecular gene analysis at age 59 showed that the CAG repeat units in the MJD gene were 60 and 60, smaller than the reported lengths for homozygous MJD patients (63-70 and 66-72). In addition to sleep disturbances, in particular RBD, psychiatric symptoms may be important clinical features in both heterozygous and homozygous MJD.

Diagnosis, Differential↗
PubMed2001

Clinical features and prognosis of Miller Fisher syndrome.

The authors reviewed the clinical features and outcome of Miller Fisher syndrome (MFS) for 50 consecutive patients with MFS including 28 patients who received no immunotherapy. Besides the characteristic clinical triad (ophthalmoplegia, ataxia, and areflexia), pupillary abnormalities, blepharoptosis, and facial palsy are frequent in MFS, whereas sensory loss is unusual despite the presence of profound ataxia. Patients with MFS usually had good recovery and no residual deficits.

Adolescent↗
PubMed2001

Machado-Joseph disease associated with an absence of fungiform papillae on the tongue.

The authors report the case of a family with Machado-Joseph disease (MJD) associated with sensory and autonomic disturbances-particularly the absence of fungiform papillae on the tongue and taste buds. Sural nerve biopsy showed a loss of myelinated fibers. Autonomic function tests showed bladder-bowel dysfunction, hypohidrosis, and low coefficients of variation of R-R intervals on electrocardiogram. These findings may be another possible variant or previously unrecognized symptoms in MJD.

Adult↗
PubMed2001

Normalization of creatine kinase level during pregnancy in idiopathic hyperCKemia.

A 34-year-old previously healthy woman with no remarkable family history developed asymptomatic hyperCKemia at age 26. Over the next 6 years, hyperCKemia persisted (502-2562 IU/l; normal range<180). A muscle biopsy showed minimal nonspecific myopathy. Genetic analysis of blood and muscle samples showed no abnormality in the dystrophin gene. At age 33, she became pregnant for the first time and serum creatine kinase (CK) was normal at 170 IU/l in the third trimester. After delivery, hyperCKemia reappeared (715-2620) while her baby tested normal for CK. This is the first report of idiopathic hyperCKemia associated normalization of serum CK level during pregnancy, which has been reported in carriers of Duchenne muscular dystrophy.

Adult↗
PubMed2001

Dizziness when eating: an unusual isolated presentation of cerebral venous thrombosis.

A previously healthy 60-year-old man had a two-year history of dizziness or faintness when eating but not when drinking. MRI of the brain detected deep venous dilatation, and digital subtraction cerebral angiography showed superior sagittal sinus thrombosis. These symptoms were completely resolved after the daily administration of 200 mg ticlopidine for four weeks. The pathomechanism of this unusual presentation is speculated episodic congestion of the jugular venous drainage during mealtime due to an increase in the circulatory volume of the external carotid-jugular system.

Angiography, Digital Subtraction↗
PubMed2000

Motion sickness susceptibility due to a small hematoma in the right supramarginal gyrus.

We describe a unique case of a woman who twice experienced episodes of susceptibility to motion sickness that lasted for several months. Both times a small hemorrhage from a cavernous angioma in the supramarginal gyrus (SMG) was detected by MRI. Because the SMG is part of area 7, which belongs to a network of multisensory visual-vestibular cortical areas, we conclude that a small lesion there can cause motion sickness susceptibility.

Adult↗
PubMed2000

[Sleep apnea in multiple system atrophy].

Multiple system atrophy(MSA) characterized clinically by any combination of autonomic, extrapyramidal or cerebellar symptoms and signs. MSA patients frequently manifest a variety of sleep-related respiratory disturbances, which are life threatening problems. Above all, a common and serious complication is upper-airway obstructive sleep apnea associated with stridor, which is caused by vocal cord abductor paralysis(VCAP). For the early diagnosis of VCAP, it is important to perform laryngoscopy during sleep, because VCAP does not appear during awakefulness in the early stage of MSA. Polysomnographic study should be obtain to assess the severity of respiratory disturbances. Tracheostomy is reliable treatment for respiratory disturbances due to VCAP, while nasal continuous positive pressure may be a useful treatment for some patients.

Humans↗
PubMed1999

'Thumb localizing test' for detecting a lesion in the posterior column-medial lemniscal system.

A proprioception examination, called the 'thumb localizing test' (TLT), is described as a technique for testing 'limb localization'. With the patient's eyes closed, the examiner positions one of the patient's upper limbs (fixed limb) and asks him to pinch the thumb of that limb with the opposite thumb and index finger (reaching limb). The findings for 221 patients (423 limbs) show that: there were TLT deficits when the limb contralateral to the cerebral lesion or ipsilateral to the peripheral nerve lesion was the fixed limb, but not when the fixed limb became the reaching limb; that the deficits of limb localization found by the TLT were strongly correlated with deficits of deep or discriminative perceptions such as sense of joint position and movement and tactile cutaneous localization, but uncorrelated with sensory deficits of pain and temperature; that deficits of limb localization were apt to arise from lesions in the posterior column-medial lemniscal system at various levels in the peripheral nerves, cervical cord, brainstem, thalamus or parietal lobe; and that impairment of limb localization and other deep or discriminative sensations were occasionally dissociated. The TLT is easily done at the patient's bedside and can detect a lesion in the posterior column-medial lemniscal system. Moreover, it provides the means to examine the perceptual deficits using a motor task of the opposite limb.

Adolescent↗
PubMed1999

Special sensory ataxia in Miller Fisher syndrome detected by postural body sway analysis.

To investigate whether ataxia in Miller Fisher syndrome (MFS) is caused by loss of proprioception or cerebellar dysfunction, we studied the power spectrum peak of the body sway frequency in 10 MFS patients, and compared the results with those of patients with cerebellar or sensory ataxia. The cerebellar patients had a peak at 2.4 Hz, whereas sensory ataxia patients had a 1-Hz peak. Nine of the MFS patients had a distinct 1-Hz peak. Clinical sensory loss or abnormal sensory nerve potentials were present in only 3 patients, whereas soleus H-reflexes were absent in all the MFS patients. MFS patients have dysfunction of the proprioceptive afferent system, and the special sensory ataxia may be caused by the selective involvement of muscle spindle afferents.

Adult↗