Intravenous immunoglobulin treatment in multiple sclerosis.
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Biomedical subjects
Publications and source records attributed to N Gadoth.
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The object of this retrospective study was to determine the sites of abdominal aortic bifurcation and inferior vena cava confluence in relation to age and sex. The study group comprised 180 subjects (90 males and 90 females) divided into 9 groups by age (in decades). The positions of the aortic bifurcation and the inferior vena cava confluence were evaluated by CT, and linear regression models were fitted to the data. The positions of the aortic bifurcation and venous confluence showed a highly significant downward shift with increasing age (p = 0.0001). The shift was more pronounced in women. The mean site of the aortic bifurcation for the whole group was at lower L4 (range, upper L3 to upper S1); in males, it was at upper L4 (range, upper L3 to upper L5), and in females at lower L4 (range, upper L3 to upper S1). The mean site of the venous confluence for the whole group was at disc L4-L5 (range, lower L3 to upper S1); in males, it was at disc L4-L5 (range, upper L4 to disc L5-S1), and in females at disc L4-L5 (range, lower L3 to upper S1). Thus, the aorta and the inferior vena cava can extend as low as the level of S1. These data are of relevance in laparoscopic procedures, especially in laparoscopic lumbar discectomy.
An 18-year-old male suffered from familial progressive myoclonic epilepsy from the age of 7 years. In addition to seizures, there was a marked decline in school performance. At the age of 14 years, sodium valproate was started as add-on therapy; 2 weeks later he was hospitalized in a stuporous state. The serum level of valproate was within the therapeutic range. Cognitive evaluation disclosed moderate mental retardation. No metabolic abnormalities were detected. Valproate was discontinued and during the 4 following months, a slow but significant improvement was documented in cognitive functions. Repeated assessment was within the range of mild mental retardation. Initially, magnetic resonance imaging (MRI) showed mild cortical atrophy. A subsequent MRI study performed 2 years later was normal.
It is generally accepted that patients with cerebral palsy suffer from a static encephalopathy causing a non-progressive disorder of posture and/or movement. We describe 7 patients from 5 families who were initially diagnosed with cerebral palsy. Eventually, excessive excretion of urinary 3-methyl glutaconic acid (3-MGA) was found. The data of our 7 patients are quite similar to the clinical description of Costeff et al (1989): Jewish-Iraqi origin (7/7), consanguinity (2/7), involuntary movements (5/7), ataxia (6/7), pyramidal involvement (6/7) and optic atrophy (6/7). The cognitive functions were intact in 5/7 and 2/7 showed mild to moderate mental retardation. The mean delay in the definitive diagnosis was 9 years. Cerebral palsy-like symptoms accompanied by optic atrophy and extrapyramidal signs should call for extensive metabolic evaluation including the determination of urinary 3-MGA.
Myotonic dystrophy (DM) is an autosomal dominant multisystem disorder. Little evidence suggests the existence of liver damage in a small number of patients. We have prospectively evaluated liver and gallbladder function in 53 patients with DM in relation to clinical and genetic parameters. None of the patients had an enlarged liver, signs of cirrhosis, or portal hypertension. All were free of medication, and none were pregnant or had a history of alcohol abuse. In 35 (66%) patients, serum activity of at least one of six liver enzymes assayed was abnormal. An elevated level of alkaline phosphatase was found in 50.9%, of gamma-glutamyltransferase in 52.8%, of 5' nucleotidase in 43.4%, of serum aspartate aminotransferase in 35.8%, of serum alanine aminotransferase in 33.9%, and of lactate dehydrogenase in 37.7%. Liver function test results did not correlate with severity of muscle weakness, disease duration, or serum levels of creatine kinase, glucose, or lipids. Motility of gallbladder and abdominal ultrasonography were normal. Cytosine-thymidine-guanine repeat expansion by southern blot did not correlate with liver enzyme abnormalities. We conclude that elevation of liver enzymes is frequent in DM and should be included as an additional laboratory finding of the disease.
Melkersson-Rosenthal syndrome is an uncommon disorder of uncertain etiology. Different therapeutic regimens have been attempted but with limited success. We report a 24-year-old woman with recurrent facial and lip swelling, lingua plicata, and peripheral facial-nerve palsy who benefited from a short course of high-dose i.v. methylprednisolone.
OBJECTIVE: The purpose of this study was to delineate the craniofacial and dentoalveolar morphology of patients with familial dysautonomia (FD) in order to contribute to the understanding of the association between progressive sensory and autonomic neuropathy and the characteristic appearance of the dysautonomic face. PATIENTS: The study group comprised 32 patients with FD (15 females and 17 males; mean age 10.8 years, SD 3.5 years, range 5.8-19.8 years). DESIGN: Lateral cephalograms from each patient were traced twice. The means of the two measurements were compared with homologous cephalometric normal values of ethnic-specific and classical norms from the literature. RESULTS: In some parameters, the craniofacial morphology of the FD group was significantly different from the classical norms. There was a pronounced retrognathism in the mandible and a steep mandibular plane angle. The skeletal features of FD patients more closely resembled those of their ethnic group, although they were more retrognathic, and the mandibular growth axis was more horizontal. The incisors of these patients were more retropositioned and retroclined than were those of their healthy counterparts. CONCLUSIONS: The results suggest an insufficiency of the expected dentoalveolar compensatory mechanism that usually helps to bridge skeletal discrepancies. It is postulated that the neuropathy is probably the important factor in the lack of this compensatory mechanism.
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Myotonic dystrophy (DM) is associated with an increased number of CTG repeats in the 3' untranslated region of the myotonin gene. Because DM has been observed less frequently in Ashkenazic Jews and non-Jews than in North African and Yemenite Jews in Israel, a study of the CTG repeat polymorphism was undertaken in these four groups. Alleles from 126 unrelated healthy North African Jews, 103 Yemenite Jews, 103 Ashkenazic Jews, and 106 Israeli Moslem Arabs were studied by PCR analysis of the trinucleotide repeat in the DM gene, and the size distribution of the CTG repeat was determined. The alleles ranged in length from 5-28 repeats in the Yemenite Jews, 5-26 in Muslim Arabs and North African Jews, and 5-23 in the Ashkenazic Jews. North African and Yemenite Jews were found to have significantly more large repeats in the normal range than Ashkenazic Jews and Muslim Arabs (for over 18 repeats: 9.1% and 13%, respectively, compared to 2.4% and 3.3%, respectively; P < 0.0001). It is suggested that the more frequent occurrence of large CTG repeats in the normal range may represent a greater predisposition to DM.
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Familial dysautonomia (FD) is one of the classic diseases characterised by taste and smell abnormalities. However, these typical features are based on data obtained from two separate crude studies published in 1964. In the present study psychophysical-cognitive and reflex-like facial-behavioral responses to taste and smell, in nine patients with FD and 15 healthy controls, were recorded. Five taste stimulants were presented to both study groups, while a selection of common household odors was used for FD patients only. The patients with FD showed a markedly higher incidence of recognition failures for salty, bitter, sweet, and water stimuli than the controls, but rate of recognition of sour stimuli was almost identical in the two groups. Estimates by the subjects on a hedonic scale of 0 to 10 and facial display in FD indicated a relatively normal sensitivity to sour stimuli and to a lesser extent to bitter stimuli. Water, sweet, and salty stimuli evoked non-discriminatory responses. These findings indicate specific dyageusia rather than general ageusia. Smell was found to be normal. In children with taste and smell impairment, a systematic evaluative approach may help in planning palatable diets for adequate and comfortable nutrition.
Myotonic dystrophy (DM) is associated with an increased number of CTG repeats in the 3' untranslated region of the myotonin gene. Because DM has been observed more frequently in North African Jews than in Ashkenazic Jews in Israel, a study of the CTG repeat polymorphism was undertaken in these 2 groups. Alleles from 70 unrelated North African subjects and 70 unrelated Ashkenazic subjects were studied by PCR analysis of the trinucleotide repeat in the DM gene to determine the ethnic distribution of the number of CTG repeats. The alleles ranged in length from 5 to 26 repeats in the North Africans and 5 to 23 in the Ashkenazim. As has been seen in other populations, none of the chromosomes had a 9-repeat length. North African Jews were found to have significantly more repeats in the normal range than Ashkenazim (for over 14 repeats: 34/140 compared to 7/140; p < 0.0001). It is suggested that this more frequent occurrence of a large number of CTG repeats in the normal range may represent a greater predisposition to DM.
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