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Biomedical subjects

M Mukamel

Publications and source records attributed to M Mukamel.

At least 37 records · Page 2Linked to original sources
PubMed1994

Stunting of growth in anorexia nervosa during the prepubertal and pubertal period.

The growth charts of 15 patients with anorexia nervosa during the prepubertal and pubertal period were carefully reconstructed. All 15 (13 females, 2 males) had been suffering from anorexia nervosa for at least 6 months prior to referral. Mean age at referral was 13.3 +/- 1.3 years and mean duration of anorectic symptoms was 17 +/- 8 months. In all 15 cases growth arrest had been present for 13 +/- 8.5 months prior to admission. During the follow-up period, catch-up growth to different degrees was observed in the 13 patients (11 females, 2 males) who remained under treatment for at least 1 year. On the assumption that stunting of growth during the prepubertal and pubertal period is a very frequent, if not a constant, sign of anorexia nervosa of 6 months duration or more, it could be considered an additional criterion for diagnosis of the disease. The projected height should be included in the calculation of ideal weight. Since patients with growth arrest are usually referred first to a general pediatrician or a pediatric endocrinologist, it is recommended that a detailed history of caloric intake, as well as the attitude of the patient to food, be obtained in each case in order to confirm the diagnosis of anorexia nervosa.

Adolescent↗
PubMed1994

Celiac disease associated with systemic lupus erythematosus.

Celiac disease in children has been occasionally reported to be associated with various disorders such as arthritis, cutaneous vasculitis and diabetes mellitus. We report on a 12-year-old girl with celiac disease, diagnosed at 1 year of age, who developed systemic lupus erythematosus. This association has not yet been reported in children.

Celiac Disease↗
PubMed1994

A prospective evaluation of pediatric patients with syncope.

Fifty-eight children with syncope were evaluated prospectively to determine the characteristics of syncope in the pediatric age group and the yield of various diagnostic tests. The age at first syncope ranged from 0.5 to 15 years. Twenty-five children presented after a single episode and 33 after multiple episodes. Ten had a history of breath-holding spells. Nineteen had a family history of syncope. A diagnosis was established in 53 patients (91%): vasodepressor (31), cardioinhibitory (13), tussive (3), hyperventilation (2), and mixed syncope (4). In five patients (9%), the cause remained unknown. The diagnosis was established from the history in 45 cases, by a positive oculocardiac reflex in 11, and by the head-up tilt test in four. We conclude that the cause of most cases of pediatric syncope is vasodepressor or cardioinhibitory and can be diagnosed by good history-taking. Costly evaluations are rarely necessary.

Adolescent↗
PubMed1992

3-Methylglutaconic aciduria: a new variant.

3-Methylglutaconic aciduria has been described in two distinct syndromes. In one there was deficient 3-methylglutaconyl coenzyme A hydratase in fibroblast extracts where the only clinical manifestation was retarded speech development. In the second syndrome, the enzyme activity was normal but prominent neurological deterioration was noted. We describe two siblings with 3-methylglutaconic aciduria with normal enzyme activity who had choreoathetoid movements, optic atrophy, and mild developmental delay. The boy demonstrated developmental improvement in his second year of life, and his sister developed well, with normal school performance. These patients represent a new clinical variant of the second syndrome with a relatively favorable prognosis.

Acidosis↗
PubMed1990

Trigger finger in young patients with insulin dependent diabetes.

Two-hundred-and-fifty patients with juvenile diabetes mellitus aged 3-38 years, were examined for trigger finger. Thirteen patients (5%) were found to have trigger finger--10 women and 3 men aged 14-38 years (mean 26 years). The ring, middle fingers, and thumb were the most affected. Two patients had bilateral trigger finger. There was a significant correlation between duration of diabetes and trigger finger (p less than 0.001) but no correlation with the control of diabetes. Our work indicates for the first time the prevalence of trigger finger in young patients with insulin dependent diabetes mellitus.

Adolescent↗
PubMed1990

[Diabetic hand syndrome in juvenile diabetics].

247 patients with juvenile diabetes mellitus, aged 3-37 years, were examined for diabetic hand syndrome. 68 (27%) had 1 or more of the manifestations of diabetic hand syndrome. In 45 (18%) flexion contractures were found, 41 (17%) had skin changes resembling those of scleroderma and digital sclerosis, and 12 (5%) suffered from trigger finger. We found an association between diabetic hand syndrome and diabetes control as evaluated by serial levels of hemoglobin A1c measured during the years of follow-up. A high relative risk for microvascular complications was found in those who had diabetic hand syndrome, compared to the others. The relative risk for retinopathy was 2.5 times greater in patients with diabetic hand syndrome (p less than 0.001). These results show that diabetic hand syndrome is a common presentation of juvenile diabetes mellitus and can be utilized as a marker for some of its complications.

Adolescent↗
PubMed1989

Light and electron microscopic retinal findings in Leigh's disease.

Funduscopic and retinal light- and electron-microscopic findings are described in an infant with progressive neurologic deterioration leading to death. Brain autopsy findings were consistent with Leigh's disease. The retinal mitochondria showed marked degenerative changes, the cristae were almost completely destroyed and electron-dense material filled a major part of the cavity. These changes are typically described in the late stages of mitochondrial diseases but have not been described before in retinal mitochondria in a patient with Leigh's disease.

Autopsy↗
PubMed1989

[Leigh's syndrome].

Leigh's syndrome is a degenerative nervous system disorder with well-characterized neuropathology. The clinical picture shows progressive neurologic deterioration in infancy leading to death from respiratory arrest. Mitochondrial enzymatic deficiencies are implicated in the pathogenesis of the disease. A 6-month-old male infant with progressive neurologic deterioration and brain findings at autopsy consistent with Leigh's syndrome is described.

Autopsy↗
PubMed1987

Noonan's syndrome and neurofibromatosis.

A child with Noonan syndrome and multiple cafe au lait spots, compatible in size and number with von Recklinghausen's neurofibromatosis, is presented. These features may represent a distinct genetic entity rather than the coincidence of two diseases.

Child↗
PubMed1987

The prevalence of coagulation abnormalities in juvenile rheumatoid arthritis.

To determine the prevalence of coagulopathy in juvenile rheumatoid arthritis, results of repeated coagulation studies obtained on 73 patients over one year were correlated with disease activity, liver function abnormalities and drug therapy. In spite of active and severe disease in the majority of these children, coagulation abnormalities developed in only 2 cases and there was no instance of clinically apparent bleeding. Although these results suggest that the development of coagulopathy is uncommon, the physician must continue to exercise vigilance for this potentially life threatening complication, especially when caring for the child with systemic disease receiving combinations of drug therapy.

Adolescent↗
PubMed1986

Immunogenetics of juvenile chronic arthritis in Israel.

Typing for HLA-A,B,C and DR antigens was performed in 61 Israeli patients with juvenile chronic arthritis (JCA) and in 120 unrelated controls. No significant associations were apparent in the overall patient group. DR5 was significantly increased in the non-Ashkenazi patients with pauciarticular onset of disease. The only three DRw8 positive patients in the study had pauciarticular onset. DR5 and DRw8 were found in 9 of 10 patients with age of onset less than 3 years. Increased frequencies of Bw50 and Cw6 were observed in patients with systemic onset. Typing for properdin factor (Bf) and glyoxylase (GLO) was carried out in 45 and 50 of the patients, respectively. No associations with alleles of the complement Bf system or the HLA linked GLO system were evident. The confirmation in the ethnically distinct Israeli population of the previously described association of DR5 with pauciarticular JCA suggests that this gene may be closely related to the disease susceptibility gene.

Adolescent↗
PubMed1985

Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome.

Four siblings in a family with a highly consanguineous background presented with an unusual combination of spastic paraparesis, muscle wasting, microcephaly, mental retardation, skeletal deformities, and cutaneous manifestations, ie, hypopigmented and hyperpigmented lesions and graying of the hair. An extensive workup including electromyography, muscle biopsy, and chromosomal analysis was unrewarding. An autosomal recessive inheritance is probable. A similar entity was recently reported from israel. The possibility that this previously unrecognized condition represents a new syndrome is suggested.

Adolescent↗