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Biomedical subjects

Josef Finsterer

Publications and source records attributed to Josef Finsterer.

At least 145 records · Page 8Linked to original sources
PubMed2004

Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction.

BACKGROUND: Left ventricular hypertrabeculation (LVHT)/non-compaction, a rare myocardial abnormality and frequently associated with neuromuscular disorders, has not been reported in primary myoadenylate-deaminase (MAD) deficiency (MADD). CASE REPORT: In a 53-year-old man with easy fatigability and myalgia since boyhood, primary MADD was diagnosed based upon slightly, but recurrently elevated creatine-kinase, absent staining for MAD on muscle biopsy, markedly reduced MAD activity in the muscle homogenate, and the C34T mutation within exon 2 of the AMPD1 gene. An ambulatory ECG showed nocturnal sinus bradycardia and echocardiography thickening of the interventricular septum (20 mm) and the posterior wall (16 mm) and additionally LVHT. Cardiac MRI confirmed myocardial thickening and LVHT. Myocardial thickening and LVHT were regarded as causally related to the C34T mutation. CONCLUSION: Cardiac involvement in MADD may manifest as left ventricular myocardial thickening and LVHT. MADD should be included in the list of neuromuscular disorders which are associated with LVHT.

AMP Deaminase↗
PubMed2004

Transient interruption of unilateral tinnitus by fentanyl and propofol in a patient with neuromuscular disorder.

A 64-year-old man with left-sided tinnitus since September 2003 underwent left atrial catheter ablation for atrial flutter that he had been experiencing since 1999. For the procedure, he was anesthetized with a cumulative intravenous dosage of 700 mg propofol and 0.5 mg fentanyl over 2.5 hours. The patient's tinnitus had completely disappeared after he awoke from the anesthesia. Ten days after the procedure, however, tinnitus recurred. In conclusion, high-dose intravenous fentanyl and propofol transiently discontinue unilateral, idiopathic tinnitus. The observed effect may have implications for the treatment of tinnitus.

Anesthetics, Intravenous↗
PubMed2003

Sirolimus myopathy.

Explore the source record for details and available documents.

Electromyography↗
PubMed2003

Ptosis: causes, presentation, and management.

Drooping of the upper eyelid (upper eyelid ptosis) may be minimal (1-2 mm), moderate (3-4 mm), or severe (>4 mm), covering the pupil entirely. Ptosis can affect one or both eyes. Ptosis can be present at birth (congenital) or develop later in life (acquired). Ptosis may be due to a myogenic, neurogenic, aponeurotic, mechanical or traumatic cause. Usually, ptosis occurs isolated, but may be associated with various other conditions, like immunological, degenerative, or hereditary disorders, tumors, or infections. Besides drooping, patients with ptosis complain about tired appearance, blurred vision, and increased tearing. Patients with significant ptosis may need to tilt their head back into a chin-up position, lift their eyelid with a finger, or raise their eyebrows. Continuous activation of the forehead and scalp muscles may additionally cause tension headache and eyestrain. If congenital ptosis is not corrected, amblyopia, leading to permanently poor vision, may develop. Patients with ptosis should be investigated clinically by an ophthalmologist and neurologist, for blood tests, X-rays, and CT/MRI scans of the brain, orbita, and thorax. Treatment of ptosis depends on age, etiology, whether one or both eyelids are involved, the severity of ptosis, the levator function, and presence of additional ophthalmologic or neurologic abnormalities. Generally, treatment of ptosis comprises a watch-and-wait policy, prosthesis, medication, or surgery. For minimal ptosis, Müller's muscle conjunctival resection or the Fasanella Servat procedure are proposed. For moderate ptosis with a levator function of 5-10 mm, shortening of the levator palpebrae or levator muscle advancement are proposed. For severe ptosis with a levator function <5 mm, a brow/frontalis suspension is indicated. Risks of ptosis surgery infrequently include infection, bleeding, over- or undercorrection, and reduced vision. Immediately after surgery, there may be temporary difficulties in completely closing the eye. Although improvement of the lid height is usually achieved, the eyelids may not appear perfectly symmetrical. In rare cases, full eyelid movement does not return. In some cases, more than one operation is required.

Blepharoplasty↗
PubMed2003

Familial left ventricular hypertrabeculation in myotonic dystrophy type 1.

BACKGROUND: Familial left ventricular hypertrabeculation (LVHT)has not been described in myotonic dystrophy type 1 (MD1). CASE REPORT: Two MD1 patients are described, father and daughter, both presenting with LVHT. The father was a 45-year-old man with the typical MD1 phenotype starting in 1992. DNA analysis revealed a heterozygous expansion of 300 CTG repeats in the myotonic dystrophy protein kinase (DMPK) gene on chromosome 19q13.3. He had a history of successful electrocardioversion of atrial flutter into sinus rhythm. Cardiac history and clinical cardiologic examination were otherwise normal. On ECG, ST elevation was found exclusively. Transthoracic echocardiography revealed LVHT, previously described only in Becker's muscular dystrophy, metabolic myopathy, Barth syndrome, and other rare genetic disorders. In the 13-year-old daughter, occasional muscle cramps since 1998, discrete weakness of the left triceps brachii muscle, and discrete distal wasting of the upper limbs were found. Serum creatine kinase (CK) and electromyography were normal. The daughter carried an expansion of 140 CTG repeats in the DMPK gene. Clinical cardiologic examination as well as the ECG were normal. Echocardiography revealed LVHT,which was also confirmed by cardiac MRI. Neither the father nor the daughter required any cardiac medication. CONCLUSION: This study demonstrates that LVHT in MD1 may bea cardiac manifestation of the underlying skeletal muscle disorder, may show a familial occurrence, or may be associated with other cardiac abnormalities or isolated.

Adolescent↗
PubMed2003

Influence of tiapride on platelet counts in healthy volunteers and patients with movement disorders.

BACKGROUND: The selective D2 antagonist tiapride is administered in various movement disorders. Furthermore, there are indications that tiapride increases platelet counts. AIM: To characterize tiapride's potential to increase platelet counts in healthy subjects and patients with movement disorders. METHODS: In Part A, 10 healthy volunteers received tiapride (300 mg/day) for 21 days in a longitudinal, prospective, open trial. One hundred healthy subjects served as controls. Part B was a retrospective analysis of 15 patients with movement disorders on tiapride [Huntington's disease (n=6), Morbus Little (n=3), hyperkinetic syndromes of undetermined etiology (n=3), blepharospasm (n=1), cervical dystonia (n=1), perioral dyskinesia (n=1)] and 15 age- and sex-matched controls. RESULTS: Part A: Although serum prolactin levels increased by 526+/-14%, confirming good drug compliance, tiapride elicited only minor changes in platelet counts. Part B: Platelet counts correlated positively with the dose of tiapride (100-800 mg/day; r=.67; P=.007). Platelet counts were significantly higher in patients on tiapride compared to healthy age-matched controls (P<.001). Four patients responded to an increase in the tiapride dosage with an increase in platelet count by 97-173 cells/nl. CONCLUSION: Three weeks of treatment with tiapride (300 mg/day) is insufficient to elevate platelet counts to a clinically relevant extent in young healthy volunteers. However, in elderly patients with movement disorders tiapride treatment is associated with markedly increased platelet counts.

Administration, Oral↗
PubMed2003

Increased CSF protein in chloroquine-induced axonal polyneuropathy and myopathy.

OBJECTIVES: Few data are available about myopathy and polyneuropathy as rare side effects of chloroquine treatment. Even more rarely are cerebrospinal fluid (CSF) abnormalities in chloroquine polyneuropathy/myopathy. CASE DESCRIPTION: The patient is an 81-year-old woman with a 30-year history of chronic polyarthritis. As a basic therapy, she received chloroquine (250 mg per day) since 1997. Already, 1 year later she developed slowly progressive gait disturbance, which led to recurrent falls, and forced her to use crutches and other orthotic devices. Since March 2001, she was no longer able to climb stairs. Since then she also developed sensory disturbances in both lower limbs. Clinical neurological investigation revealed weakness and wasting of all four limbs and reduced tendon reflexes and stocking-type sensory disturbances. Nerve conduction studies were indicative of an axonal polyneuropathy. Electromyography was non-specifically abnormal. Muscle biopsy of the gastrocnemius muscle disclosed neuropathic and myopathic features and frequent fibers with partially rimmed vacuoles, containing concentrically or parallelly sliced inclusions. CSF investigations disclosed increased protein but otherwise normal findings. Five months after discontinuation of chloroquine and replacement by leflunomid, there was marked clinical improvement. CONCLUSIONS: Chloroquine polyneuropathy/myopathy may go along with increased CSF protein. Discontinuation of the causative agent results in prompt recovery of the described abnormalities.

Aged↗