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Biomedical subjects

M Sadeh

Publications and source records attributed to M Sadeh.

At least 19 recordsLinked to original sources
PubMed2006

Skin biopsy for assessment of autonomic denervation in Parkinson's disease.

Autonomic dysfunction in Parkinson's disease (PD) is considered a late complication of the disease or an adverse effect of anti-parkinsonian medications. Morphological changes are demonstrated only by postmortem examination. The study objective was to evaluate peripheral autonomic neural involvement in PD using punch skin biopsy. The study sample included 22 patients (mean age 50 +/- 7.7 years, mean disease duration 5.3 +/- 3.8 years) and 19 controls. Four-millimeter skin biopsies were immunohistochemically stained with anti-PGP 9.5 antibody. Autonomic innervation of the blood vessels, sweat glands, and erector pili muscles was assessed and rated from 0 (normal) to 2 (severe). Cutaneous autonomic innervation was decreased in patients compared to controls. Semi quantitative analysis demonstrated reduced autonomic innervation of the blood vessels (1.0 +/- 0.8 vs. 0.42 +/- 0.8 in controls; p < 0.02), of sweat glands (0.95 +/- 0.67 vs. 0.47 +/- 0.61; p < 0.02) and of the erector pili muscles (1.06 +/- 0.55 vs 0.21 +/- 0.42; p < 0.001). This method demonstrates that the peripheral autonomic system is affected in PD at early stage of the disease and that autonomic involvement in PD may be more prevalent than previously thought.

Adult↗
PubMed2006

Annexin V SPECT imaging of phosphatidylserine expression in patients with dementia.

The authors sought to use radiolabeled annexin V, a marker of phosphatidylserine expression, to image Alzheimer dementia (AD). Four of five patients with AD had multifocal cortical annexin V uptake, whereas all seven non-AD and six control patients had normal SPECT. The mean cortex/cerebellar activity in patients with AD (1.4 +/- 0.6) was higher than that of non-AD dementia patients (0.7 +/- 0.2; p = 0.02). Radiolabeled annexin V may be useful for imaging AD.

Aged↗
PubMed2006

Cervical paraspinal electromyography: normal values in 100 control subjects.

The normal electromyographic values and the significance of spontaneous activity, when examining the cervical paraspinal muscles, has been studied rarely, and there are very few studies concerning this issue. To obtain muscle unit potential (MUP) reference values for cervical paraspinal muscles, we examined 100 volunteers. Spontaneous activity and the analysis of 20 MUPs in every individual were checked by the automated MUP analysis program. In those individuals ages 20 to 40 years, no spontaneous activity was observed, and in the ones ages 40 to 60 years and 60 years or older, fibrillations and/or positive sharp waves were seen in 8% and 92%, respectively. MUP values were found to be close to those of upper limb muscles. Age has no significant effect on MUP values, except for mean amplitude that was increased in individuals ages 60 to 80 years.Our findings suggest that fibrillations and positive sharp waves do not have much electrodiagnostic value in the study of cervical paraspinal muscles of middle-aged and elderly subjects, when it is an isolated finding, and there is a need for an extended electromyographic examination, including other muscles, to exclude radiculopathy. Automated MUP analysis is easily performed, and our results may serve as reference values.

Action Potentials↗
PubMed2004

Clinical presentations of mitochondrial cardiomyopathies.

UNLABELLED: To determine the clinical manifestations and interfamilial variability of patients diagnosed with a mitochondrial cardiomyopathy, we reviewed the charts of 14 patients with cardiomyopathy out of 59 patients with mitochondrial disorders who attended the mitochondrial disease clinic at Wolfson Medical Center from 1996 to 2001. All patients underwent a metabolic evaluation including blood lactate, pyruvate, carnitine, and amino acids and urine organic acids. Respiratory chain enzymes were assessed in 10 patients. The mitochondrial DNA (mtDNA) was assessed for mutations. The age at presentation ranged between 6 months and 24 years. Six of the patients died, 5 from heart failure. The cardiomyopathy was hypertrophic in 10 and dilated in 4. Conduction and rhythm abnormalities were present in 6. Eleven patients had family members with mitochondrial disorders. All the patients had additional involvement of one or more systems. Seven patients exhibited a deficiency of a respiratory chain enzyme in the muscle. The MELAS mtDNA point mutation (3243) was found in one patient. Blood lactic acid levels were increased in 5. Brain MRI abnormalities were observed in 4. CONCLUSIONS: Mitochondrial dysfunction frequently affects the heart and may cause both hypertrophic and dilated cardiomyopathy. The cardiomyopathy is usually a part of a multisystem involvement and may rarely be isolated. The course may be stable for many years, but rapid deterioration may occur. Understanding the biochemical and genetic features of these diseases will enable us to comprehend the clinical heterogeneity of these disorders.

Adolescent↗
PubMed2004

Transient global amnesia -- not always a benign process.

OBJECTIVES: Transient global amnesia (TGA) is an episodic dysfunction of declarative memory, which is assumed to be a benign disorder. Brain perfusion single photon emission computed tomography (SPECT) was shown to be abnormal during the acute stage and to become normal with normalization of memory function. No data are known about the brain perfusion pattern among these patients with recurrent TGA. MATERIAL AND METHODS: Sixteen patients with TGA were studied with an initial brain imaging during the acute stages of their attack, and a second imaging was performed after 3 months. In the event of a patients having a second abnormal brain perfusion HMPAO SPECT, a third imaging was performed after 1 year. RESULTS: Hypofusion perfusion was demonstrated in all cases during the acute stage. In all patients who had a first TGA, a normal SPECT was demonstrated after 3 months. In three patients with recurrent TGA, the brain perfusion remained abnormal after 3 months and after 1 year. CONCLUSIONS: A normal perfusion in TGA after 3 months can be expected in a patient with a first attack. In patients with recurrent TGA attacks, a persistent focal hypoperfusion can be expected. This subgroup of patients may demonstrate a non-benign type of TGA, eventually due to a different etiology of event.

Adult↗
PubMed2003

Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.

BACKGROUND: Recessively inherited hereditary inclusion body myopathy (HIBM) with quadriceps sparing was initially described only in Jews originating from the region of Persia. The recent identification of the gene responsible for this myopathy and the common "Persian Jewish mutation" (M712T) enabled the re-evaluation of atypical phenotypes and the epidemiology of HIBM in various communities in the Middle East. OBJECTIVE: To test for the M712T mutation in the DNA from HIBM patients in the Middle East. METHODS: DNA from all suspected HIBM patients was tested for the M712T mutation. Unaffected members of families with genetically proven HIBM were studied too. In the majority of families, haplotype construction with markers spanning the 700-kb region of the HIBM gene was performed. RESULTS: One hundred twenty-nine HIBM patients of 55 families (Middle Eastern Jews, Karaites, and Arab Muslims of Palestinian and Bedouin origin) were homozygous for the M712T mutation, and all carried the same haplotype. Five clinically unaffected subjects were also homozygous for the common mutation and haplotype, including two older adults (ages 50 and 68 years). Atypical features with this same mutation were marked quadriceps weakness in five patients, proximal weakness only in two patients, facial weakness in three patients, and a muscle biopsy showing perivascular inflammation in one patient. CONCLUSIONS: The phenotypic spectrum of recessive HIBM is wider than previously described, and the diagnostic criteria for this myopathy must be changed. The Middle Eastern cluster is the result of a founder mutation, with incomplete penetrance, that is approximately 1,300 years old and is not limited to Jews.

Adolescent↗
PubMed2003

Optic neuritis complicating west nile virus meningitis in a young adult.

A case of West Nile virus (WNV) infection with meningitis and optic neuritis in a 28-year-old man is presented. The patient had a number of unusual clinical and laboratory findings that broadened the differential diagnosis. The emergence of WNV infection in southern Europe and North America calls for increased awareness of physicians to this clinical entity.

Adult↗
PubMed2002

Cerebrovascular reactivity in patients under long-term acetazolamide treatment.

BACKGROUND AND PURPOSE: The acetazolamide (AZA) test is a well-accepted method for measuring the vascular reactivity of the cerebral arteries. In order to investigate the nature of this reactivity after long-term daily AZA treatment, the cerebral blood velocity (CBV) was measured using transcranial Doppler in patients under continuous AZA treatment after a single AZA 1 g intravenous (IV) dose. METHODS: Thirteen patients (eight women, five men) on long-term daily AZA (750 mg/day, mean treatment duration 68 +/- 12+ months) were included in the study. The CBV of the middle cerebral artery (MCA) and the basilar artery (BA), including the values of peak velocity, mean velocity and pulsatility index (PI) were measured. The examination was performed twice - with the initial IV administration of AZA and 20 min later. The results were compared with those of 10 age matched volunteers. RESULTS: A consistent significant increase of CBV in the right and left MCA (P < 0.001 for both arteries) was found in all study participants. A highly significant decrease of peak CBV in the BA (P < 0.001) was found in the post-AZA velocities of the patient's group. In the control group, a consistent significant increase in all post-AZA tests was demonstrated (P < 0.001). CONCLUSIONS: A mild elevation of blood velocity in the MCAs concomitant with a highly significant decrease of velocity in the BA was present in all examined patients. These patterns of CBV changes indicate the presence of a 'steal phenomenon' from the posterior to the anterior circulation and stress the necessity for caution when evaluating the indications for performance of the AZA test in patients under continuous AZA therapy.

Acetazolamide↗
PubMed2002

Serum leptin level in women with idiopathic intracranial hypertension.

Leptin is a protein secreted by adipose cells which influences regulation of energy balance and body weight. Idiopathic intracranial hypertension (IIH) is recognised as a neurological disorder mainly affecting obese females. The aim of this study was to evaluate the association between IIH and serum leptin level in 15 obese patients and compare the results with those for 16 obese and 15 non-obese women. A significantly higher serum leptin level was found in patients with IIH than in controls (p<0.0001), and this did not correlate with body mass index (BMI). Serum leptin levels were significantly associated with BMI in both control groups (p<0.0006). Additional factors must therefore be involved in the phenomenon of serum leptin increase beyond weight gain. The cause can only be hypothesised, but it seems that the origin is central, probably hypothalamic.

Adipose Tissue↗
PubMed2002

Establishment of the genomic structure and identification of thirteen single-nucleotide polymorphisms in the human RECK gene.

The human RECK gene, mapped at 9p13-->p12, is known as a tumor suppressor gene and as a key regulator of extracellular matrix integrity and angiogenesis. We have established the entire genomic structure of this gene, which spans more than 87 kb and consists of 21 exons and 20 introns, and identified thirteen single nucleotide polymorphisms (SNPs). Four SNPs were identified in the coding region of the gene (exons 1, 9, 13 and 15), and the remaining nine in introns 5, 8, 10, 12, 15 and 17. The availability of the genomic organization of the RECK gene and the identification of polymorphisms throughout its entire genome will facilitate the evaluation of its role in several disorders and also contribute to the assignment of genes to the several diseases mapped to this chromosomal region.

Base Sequence↗
PubMed2001

Benign intracranial hypertension: correlation of cerebral blood flow with disease severity.

UNLABELLED: Benign intracranial hypertension (BIH) is characterized by symptoms and signs of raised intracranial pressure in the absence of an intracranial mass lesion, infection or hydrocephalus. The purpose of this study was to evaluate the effect of disease severity on cerebral blood flow in patients with BIH on acetazolamide therapy. METHODS: 11 patients (nine females, two males; mean age 30.5 years; range 22-29 years) with BIH were studied. All patients underwent CT and MRI scanning which were normal. The CSF pressure of all patients was above 200 mm H2O. All patients were under treatment with acetazolamide (1 g/day). Disease severity was determined by visual field examination and by clinical symptoms. Five patients were categorized into mild to moderate BIH (group I) and six patients had severe BIH (group II). All patients underwent perfusion brain SPECT with 740 MBq of Tc-99m-HMPAO. RESULTS: Brain perfusion abnormalities were observed in six of the 11 patients. One out of five patients in group I (20%) and five out of six patients (83%) in group II, had abnormal SPECT findings (P<0.04). In four patients of group II the left parietal lobe was involved and another patient had a right occipital abnormality. The single patient from group I with SPECT abnormalities demonstrated focal decreased perfusion in the left temporal area and decreased perfusion in the left caudate nucleus. CONCLUSION: Patients with severe degree of BIH have a higher incidence of cerebral perfusion abnormalities. This group may have an increased risk of cerebrovascular complications. The continuous administration of acetazolamide which affects the vascular autoreactivity may contribute to the regional hypoperfusion. Further studies are recommended to evaluate the natural course of disease versus iatrogenic treatment effects.

Acetazolamide↗
PubMed2001

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

Hereditary inclusion body myopathy (HIBM; OMIM 600737) is a unique group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. The autosomal recessive form described in Jews of Persian descent is the HIBM prototype. This myopathy affects mainly leg muscles, but with an unusual distribution that spares the quadriceps. This particular pattern of weakness distribution, termed quadriceps-sparing myopathy (QSM), was later found in Jews originating from other Middle Eastern countries as well as in non-Jews. We previously localized the gene causing HIBM in Middle Eastern Jews on chromosome 9p12-13 (ref. 5) within a genomic interval of about 700 kb (ref. 6). Haplotype analysis around the HIBM gene region of 104 affected people from 47 Middle Eastern families indicates one unique ancestral founder chromosome in this community. By contrast, single non-Jewish families from India, Georgia (USA) and the Bahamas, with QSM and linkage to the same 9p12-13 region, show three distinct haplotypes. After excluding other potential candidate genes, we eventually identified mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene in the HIBM families: all patients from Middle Eastern descent shared a single homozygous missense mutation, whereas distinct compound heterozygotes were identified in affected individuals of families of other ethnic origins. Our findings indicate that GNE is the gene responsible for recessive HIBM.

Amino Acid Sequence↗
PubMed2001

Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13.

Hereditary inclusion body myopathy (HIBM) is a group of neuromuscular disorders characterised by adult-onset, slowly progressive distal and proximal muscle weakness and typical muscle pathology. Previously, we have mapped the gene responsible for a recessive form of HIBM to chromosome 9p1 and narrowed the interval to one single YAC clone of 1 Mb in size. As a further step towards the identification of the HIBM gene, we have constructed a detailed physical and transcriptional map of this region. A high resolution BAC contig that includes the HIBM critical region, flanked by marker 327GT4 and D9S1859, was constructed. This contig allowed the precise localisation of 25 genes and ESTs to the proximal region of chromosome 9. The expression pattern of those mapped genes and ESTs was established by Northern blot analysis. In the process of refining the HIBM interval, 13 new polymorphic markers were identified, of which 11 are CA-repeats, and two are single nucleotide polymorphisms. Certainly, this map provides an important integration of physical and transcriptional information corresponding to chromosome 9p12-p13, which is expected to facilitate the cloning and identification not only of the HIBM gene, but also other disease genes which map to this region.

Chromosomes, Artificial, Bacterial↗
PubMed2001

Quantitative anal sphincter EMG in multisystem atrophy and 100 controls.

OBJECTIVE: To evaluate data of quantitative anal sphincter EMG in normal controls and to compare them with patients with multiple system atrophy (MSA). METHODS: Quantitative anal sphincter EMG were performed on 100 normal controls and 11 patients with MSA to characterise EMG data in these two groups. RESULTS: In the normal controls, there was a trend for increased motor unit potential (MUP) amplitude, duration, area, and polyphasicity with advancing age. Patients with MSA exhibited similar MUP size and fibre density. Significant differences were found only in parameters of the recruitment pattern, which were reduced in MSA, with a diminution in the number of active MUPs during rest. CONCLUSIONS: These results may reflect either decreased number of motor cells in Onuf's nucleus without significant consequential reinnervation, or upper motor neuron involvement affecting the anal sphincter in MSA. They further underline the importance of comparative data for age matched controls.

Adolescent↗
PubMed2001

Antiepileptic treatment in patients with early postischemic stroke seizures: a retrospective study.

Early seizures caused by stroke are a common cause of epilepsy in adults. The protocol for treatment in such a case is not clear. Patients were studied retrospectively after early poststroke seizures. Two groups of patients were compared: one treated group included 35 patients who continued therapy for 2 years; the second group of 23 patients were untreated following a first attack, receiving anticonvulsive therapy only after a second seizure. The data of 61 patients (35 treated and 26 untreated) were analyzed. In the treated group, 24 patients were on treatment with carbamazepine, 9 with valproic acid and 2 with phenytoin. Seizure-free rate after 2 years was 85% in group I and 61% in group II (p = 0.042). Comparing the seizure rate and the event-free period (number/follow-up at risk) during the 2 years of no anticonvulsive therapy, both groups experienced about the same seizure rate (4.8 vs. 6.2%, p = 0.605) and similar seizure-free curve survival analysis (p = 0.85). We conclude that treatment of seizures immediately after the first attack after cerebral infarctions decreases the risk of recurrent seizure during the first 2 years of antiepileptic treatment. This subgroup of patients receiving antiepileptic medication immediately after the first poststroke seizure continues to be at the same rate of risk after treatment was stopped as the untreated group during the first 2 years. Antiepileptic therapy is an option in the medical management of poststroke seizure patients, but has no influence on the development of recurrent seizures after discontinuing medication.

Aged↗
PubMed2001

Laboral outcome after acute unilateral vestibulopathy.

Sixty-five adult patients who had acute peripheral vestibulopathy (APV) were followed-up to determine their functional outcome. During the acute phase, they were treated with betahistine and mobilization. In the entire study population, APV was not significantly associated with a change in occupational activities, physical work or driving ability. Older individuals had significantly attributed a change in work to disease other than APV. Change attributed to APV occurred significantly more frequently in women than in men. The therapeutic approach seems beneficial.

Adult↗
PubMed2000

Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.

The cluster in Jews of Libyan origin of limb-girdle muscular dystrophy type 2B due to a dysferlin 1624delG mutation is described. The carrier frequency of this mutation is calculated to be approximately 10% in this population, in which the disease prevalence is at least 1 per 1300 adults. Twenty-nine patients from 12 families were all homozygous for the same mutation. However, clinical features were heterogeneous even within the same family: in half of the patients onset was in the distal muscles of the legs, which is similar to Miyoshi myopathy, while in others onset was in the proximal musculature, which is similar to other forms of limb-girdle dystrophies. Age at onset varied from 12 to 28 years (mean 20.3 +/- 5.5 years). One patient was presymptomatic at age 28 years. Progression was slow regardless of age of onset, patients remaining ambulatory until at least 33 years. Five patients described subacute, painful enlarged calves as an early, unusual feature. The variable features in this ethnic cluster contribute to the definition of the clinical spectrum of dysferlinopathies in general. The cause of the observed heterogeneity remains unclear.

Adult↗