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Biomedical subjects

L Sudarsky

Publications and source records attributed to L Sudarsky.

At least 19 recordsLinked to original sources
PubMed2001

Neurologic disorders of gait.

Gait disorders are important because of their prevalence, particularly among the elderly, and the associated risk of falls and injury. Neural networks that organize locomotion and maintain balance are briefly reviewed. Gait disorders can be classified based on observational features or by etiology. Several common disorders are discussed in more detail. Recent progress includes use of botulinum toxin for spastic gait in cerebral palsy, neurosurgical treatment of Parkinson's disease, and newer rehabilitation approaches to gait and balance training.

Gait Disorders, Neurologic↗
PubMed2001

Experience with transumbilical breast augmentation.

Transumbilical breast augmentation (TUBA), an endoscopicassisted procedure in which saline breast prostheses are inserted through the umbilicus, is a patient-driven, frequently performed procedure that remains controversial. The author describes the operative technique and results in 90 patients who underwent TUBA between October 1996 and July 2000 by the same surgeon in a community practice. A total of 85 patients underwent submammary TUBA and 5 patients underwent submuscular TUBA. Seventy patients were available for follow-up. Postoperative results of the 70 patients were graded as very good in 56 (80%), good in 12 (17%), and fair in 2 (2.9%). Complications were conversion to an open approach in 1 patient and an accidental submuscular entry into the pocket in 1 patient. There were four capsular contractures (5.7%), 5 patients (7.1%) were reoperated: 2 for capsulectomies, 1 for implant buckling, 1 for scar revision, and 1 for removal of the implants. There were no implant ruptures, hematomas, or infections. Advantages of TUBA include minimal scarring, remote incision, short operating time, low capsular contracture rate, and rapid recovery. These results of this evolving procedure suggest that in select patients TUBA provides a high level of patient satisfaction and low complication rates. As TUBA techniques for submuscular placement continue to develop, more patients may become TUBA candidates.

Breast Implantation↗
PubMed1999

Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation.

A variety of neurologic phenotypes have been described in patients with mitochondrial disorders. We report a 32-year-old man in whom dystonia was the salient and presenting feature of a mitochondrial DNA mutation. He presented at age 23 with writer's cramp and progressed over 5 years to exhibit dystonia in facial muscles and lower limbs. He also has exercise intolerance, mild, bilateral ptosis, proximal muscle weakness, and sensorineural hearing loss. Molecular genetic analysis of blood, urine, and muscle biopsy demonstrated the presence of a heteroplasmic point mutation at nucleotide position 3243. The 3243 mtDNA mutation has pleomorphic manifestations, and dystonia should be added to the list of associated clinical features.

Adult↗
PubMed1997

Treatment of occupational cramp with botulinum toxin: diffusion of toxin to adjacent noninjected muscles.

Over a 5-year period, 40 patients, 11 with musician's and 29 with writer's cramp, were treated with botulinum toxin A using a precise injection technique in which the hollow-bore electromyography (EMG) needle was positioned by both standard EMG and by muscle twitch evoked by stimulating current passed through it. Moderate to complete improvement in dystonia occurred in 28 patients (70%) after the first injection and in 34 patients (85%) after the second injection with better outcome in nonmusicians than in musicians. Of note, weakness of uninjected muscles, immediately adjacent to those injected, was found in 25/40 patients (63%). The most common patterns of toxin spread were from flexor digitorum sublimis to profundus, extensor carpi radialis to extensor digitorum communis, and extensor indicis proprius to extensor pollicis brevis. Spread to, and weakness of, adjacent uninjected muscles was a major factor contributing to suboptimal outcome in 6/39 (15%) such patients.

Adult↗
PubMed1996

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients.

The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders varying in both clinical manifestations and mode of inheritance. Six different genes causing autosomal dominant SCA are mapped: SCA1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA4, SCA5, and dentatorubropallidoluysian atrophy (DRPLA). Expansions of an unstable trinucleotide CAG repeat cause three of these disorders: SCA type 1 (SCA1), MJD, and DRPLA. We determine the frequency of the SCA1, DRPLA, and MJD mutations in a large group of unrelated SCA patients with various patterns of inheritance and different ethnic backgrounds. We studied 92 unrelated SCA patients. The frequency of the SCA1 mutation was 3% in the overall patient group and 10% in the non-Portuguese dominantly inherited SCA subgroup. We found that DRPLA mutation in only one Japanese patient, who was previously diagnosed with this disease. We identified the MJD mutation in 41% of the overall patient group, which included 38 autosomal dominant kindreds of Portuguese origin; the frequency of the MJD mutation among the non-Portuguese dominantly inherited cases was 17%. These results suggest that SCA may be occasionally caused by the SCA1 mutation and rarely caused by the DRPLA mutation and that, to date, the MJD mutation seems to be the most common cause of dominantly inherited SCA. Finally, our results suggest that recessively inherited cases of SCA are not caused by the known trinucleotide repeat expansions.

Brain Chemistry↗
PubMed1996

A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.

Machado-Joseph disease (MJD) is a late-onset, progressive, neurodegenerative disorder caused by the expansion of an unstable trinucleotide (CAG) repeat sequence in a novel gene (MJD1) on chromosome 14. Previous studies showed that age at onset is negatively correlated with the number of CAG repeat units, but only part of the variation in onset age is explained by CAG repeat length. Ages at onset and CAG repeat lengths of 136 MJD patients from 23 kindreds of Portuguese descent were analyzed, to determine whether familial factors independent of CAG repeat length modulate age at onset of MJD. Correlation among sibs for onset age adjusted for CAG repeat length was .43, which indicates that an environmental or genetic factor common to sibs influences onset age. Positive correlations were also observed for avuncular (r = .22) and first-cousin pairs (r = .28), which supports the hypothesis that a genetic factor is influencing age at onset. Commingling analysis of onset ages adjusted for CAG repeat length identified three distributions in this population of affected individuals. Further studies of a much larger sample are needed to determine whether these distributions represent the influence of a genetic or environmental factor.

Adolescent↗
PubMed1995

Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

Machado-Joseph disease (MJD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene on 14q32.1. We confirmed the presence of this expansion in 156 MJD patients from 33 families of different geographic origins: 15 Portuguese Azorean, 2 Brazilian, and 16 North American of Portuguese Azorean descent. Normal chromosomes contain between 12 and 37 CAG repeats in the MJD gene, whereas MJD gene carriers have alleles within the expanded range of 62-84 CAG units. The distribution of expanded alleles and the gap between normal and expanded allele sizes is either inconsistent with a premutation hypothesis or most (if not all) of the alleles we studied descend from a common ancestor. There is a strong correlation between the expanded repeat size and the age at onset of the disease as well as the clinical presentation. There is mild instability of the CAG tract length with transmission of the expanded alleles; both increase and decrease in size between parents and progeny occur, with larger variations in male than in female transmissions. Together, these effects can partly explain the variability of age at onset and of phenotypic features in MJD; however, other modifying factors must exist.

Adult↗
PubMed1995

Machado-Joseph disease.

Machado-Joseph disease (MJD) is a form of dominantly-inherited ataxia originally described in people of Azorean and Portuguese descent. The disorder has subsequently been identified in Japan, Brazil, Australia, and China. Average age of onset is 35 to 40. Core features include progressive ataxia, dysarthria, postural instability, nystagmus, eyelid retraction, and facial fasciculations. Dystonia is often prominent in younger patients. Three distinct phenotypes appear to reflect the clinical spectrum of a single mutant gene. Neuropathology involves afferent and efferent cerebellar systems, with preservation of cerebellar cortex and inferior olive. Spinocerebellar pathways, substantia nigra, and cranial nerve motor nuclei are involved. The disorder is due to an unstable CAG repeat on chromosome 14q32.1. A dominantly inherited ataxia (SCA-3) in families of French and German descent has also been linked to this segment of chromosome 14. The relationship between MJD and the other dominant inherited ataxias is discussed.

Adolescent↗
PubMed1994

Treatment of stiff-man syndrome with intravenous immune globulin.

OBJECTIVE: To evaluate the efficacy of intravenous immune globulin (IVIG) in the treatment of stiff-man syndrome (SMS). METHODS: An open, unblinded study of 3 patients with active disease and/or disease refractory to treatment with diazepam and/or corticosteroids. RESULTS: All 3 bedridden patients improved substantially shortly after infusion with IVIG and regained function. CONCLUSION: IVIG may be useful for the treatment of SMS.

Adult↗
PubMed1994

Limb dystonia following electrical injury.

Electrical injuries of the extremities may cause paralysis, muscle atrophy, sensory deficit, causalgia, and reflex sympathetic dystrophy (RSD). Limb dystonia has rarely been reported following electrical injury to an extremity, although it may result from cerebral hemisphere electrical trauma. Following electrical injury to the upper extremity, three patients developed limb dystonia accompanied by severe pain and sensory symptoms in two patients and features of RSD in one patient. Two patients received botulinum toxin injections without functional benefit. The mechanism of dystonia following peripheral trauma is unknown but may relate to reorganization of central synaptic connections, possibly in the spinal cord.

Adult↗
PubMed1992

Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies.

Experience is described in 25 patients from southern New England with Machado-Joseph Disease, examined serially at annual screening clinics. The disorder is dominantly inherited, with a wide range of phenotypic variation. Core clinical features described include ataxia, nystagmus, dysarthria, facial fasciculations, and lid retraction, producing a characteristic staring expression. In addition, young onset patients have spasticity, extrapyramidal rigidity, and dystonic manifestations. Late onset patients often have distal atrophy and sensory loss. Postural instability is often an early feature. We discuss the distinction of this entity from the olivopontocerebellar atrophies.

Adolescent↗
PubMed1989

Dementia in Parkinson's disease: the problem of clinicopathological correlation.

Four cases of Parkinson's disease with advanced dementia are described. Postmortem examination revealed cell loss in the substantia nigra, with Lewy bodies present, and loss of cells in the basal nucleus of Meynert. A few tangles were observed in the hippocampus, but no senile plaques or neurofibrillary tangles were found in the neocortex. The authors note that a dramatic dementia syndrome may occur with Parkinson's disease alone, without the associated cytoskeletal markers of Alzheimer's disease. Cases were characterized by disorientation, episodic confusion and hallucinations persisting off medication, disturbed behavior, and the absence of aphasia.

Brain↗
PubMed1987

Gait disorder in late-life hydrocephalus.

Computerized analysis of gait was performed in six patients with hydrocephalus (mean age, 75.7 years), for comparison with other elderly patients with gait problems and age-matched controls. A decrease in velocity and stride, an increase in sway, and the proportion of time spent in double-limb stance were nonspecific features correlated with declining performance. Certain features appeared to characterize hydrocephalic gait when compared among groups; cadence was diminished, and there was a reduction of step height and a decreased counterrotation of the shoulders relative to the pelvis. An abnormal tendency toward cocontraction in antagonist muscle groups was observed in electromyographic data from the leg muscles, suggesting that the normal phased activation of muscle groups is disturbed. Although data are not conclusive, we believe that the gait disorder in normal-pressure hydrocephalus reflects a subcortical motor control disorder rather than a phenomenon of spasticity or apraxia.

Aged↗
PubMed1987

A single family with writer's cramp, essential tremor, and primary writing tremor.

We studied seven members of a family who had different types of movement disorders: Two had typical essential tremor, two (twins) had typical writer's cramp, one had both essential tremor and writer's cramp, one had primary writing tremor, and one (deceased) had uncharacterized tremor. This appears to be the first report of writer's cramp in twins and in so many family members. This family links together primary writing tremor, essential tremor, and writer's cramp and may help resolve the apparent controversy about the relationship of primary writing tremor to essential tremor and writer's cramp.

Adult↗
PubMed1987

Sartorius muscle "twist" rotation flap: an answer to flap necrosis.

Coverage of the femoral vessels with viable muscle flap after vascular reconstruction in the presence of infection is essential to prevent serious complications. Necrosis of the muscle flap as a result of interruption of its vascular pedicle can lead to complications that jeopardize the patient's life and limb. Our simple technique prevents such complications by preserving the muscle blood supply. We have used this method routinely during the past 6 years in patients with groin sepsis and did not encounter any case of muscle necrosis.

Fasciotomy↗