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Biomedical subjects

M Frydman

Publications and source records attributed to M Frydman.

At least 37 records · Page 2Linked to original sources
PubMed1996

Fixed drug eruption of the scrotum due to hydroxyzine hydrochloride (Atarax).

Fixed drug eruption describes a sharply localized dermatitis that characteristically recurs at the same site each time the offending drug is administered. Several drugs have been reported to cause this eruption, such as phenolphthalein, barbiturates, penicillin, and others. In this report, two children with fixed drug eruption of the scrotum due to hydroxyzine hydrochloride (Atarax) are described. To the best of our knowledge, no such cases have been reported previously in children.

Anti-Anxiety Agents↗
PubMed1996

Psychodynamic aspects of smoking cessation among physicians.

After approximately 10 years of research on smoking habits with an emphasis on prevention and dishabituation, we focused on the training of teachers and general practitioners. A fairly wide-ranging inquiry within the Communauté francaise de Belgique was conducted among nearly 2000 doctors. The study showed that the proportion of smokers, although lower than the average in the general population, was higher among the doctors than other socio-professional categories. A comparison of the results registered in 1983 and 1991 revealed a decrease in the number of smokers and an increase in the number of non-smokers (those who have never smoked). This change stemmed largely from a sharply lower smoking rate among young doctors. These findings impelled us to study the resistance to dishabituation among doctors who smoked. The inquiry was comprised of non-authoritative, Rogerian-style talks that enabled us to isolate a number of motivating factors and some rather typical defense mechanisms that, until recently, went partly unnoticed. The denial, indeed the placation, of anxieties in the medical profession fostered by the constant confrontation with illness and the challenge of and victory over death apparently plays a crucial role, albeit on the unconscious plane.

Drug Evaluation↗
PubMed1996

The smoking addiction of pregnant women and the consequences on their offspring's intellectual development.

Many scientists have studied the effects of smoking by pregnant women on intrauterine development. Because nicotine and other toxic substances in cigarette smoke are not stopped by the placental barrier, there is a risk that the development of the child could be hindered. It has been shown, for instance, that babies whose mothers smoked during pregnancy have lower size and weight at birth. Few authors have studied the consequences a mother's pre-natal smoking may have on the intellectual development of her child. We compared two samples of children, aged 4 to 5, and aged 6 to 7 (40 children in total), whose mothers had smoked during pregnancy, with two samples of 40 children of the same ages whose mothers had not smoked. We tested them on the Wechsler scale. The social and cultural levels were equivalent. We found a difference of more than 15 IQ points in favor of the children of nonsmoking mothers. These results permit us to suppose that smoking during pregnancy hinders the intellectual development of the child.

Child↗
PubMed1996

Subliminal manipulation of smoking.

Subliminal advertising techniques have increased in usage and are commonly accepted, particularly regarding cigarette smoking. Considering the high cost of such subliminal methods, their use can be justified only by tangible results, measured by an increase in cigarette sales. The results of our studies confirm the physiological and psychological effects of subliminal stimulation that have already been reported in the specialized literature. Our research on smoking prevention led us to study the sophisticated advertising strategies used by the tobacco industry. We have shown that revealing the subliminal stimuli-at least the visual ones-is extremely useful for teenagers. The enlightened teenager becomes able to recognize the subliminal manipulation concealed in advertising, and the risk of becoming its victim. Such educational efforts have their merits, particularly at the school level.

Advertising↗
PubMed1995

Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family.

A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. "Idiopathic" hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unusually early and severe manifestations of DMD in this patient may be related to the coincidental inheritance of the maternal DMD gene and of a paternal gene, causing hyperCKemia.

Base Sequence↗
PubMed1995

A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT is characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, cancer predisposition, radiation sensitivity, and cell cycle abnormalities. The disease is genetically heterogeneous, with four complementation groups that have been suspected to represent different genes. ATM, which has a transcript of 12 kilobases, was found to be mutated in AT patients from all complementation groups, indicating that it is probably the sole gene responsible for this disorder. A partial ATM complementary DNA clone of 5.9 kilobases encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3' kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control. The discovery of ATM should enhance understanding of AT and related syndromes and may allow the identification of AT heterozygotes, who are at increased risk of cancer.

Amino Acid Sequence↗
PubMed1995

[Multidisciplinary approach to counseling in Huntington's disease].

The recent cloning of the Huntington's disease gene now allows definitive presymptomatic and even prenatal testing. This achievement has posed a considerable challenge for the genetic counselor. We present the multidisciplinary approach implemented in our center, and experience in our first 13 diagnoses. Individuals at risk undergo neuropsychiatric evaluation, genetic counseling, molecular studies, post-counselling follow-up and support according to the protocols suggested by the International Huntington's Disease Association. Molecular studies of cytosine-arginine-guanine repeats showed that 4 individuals and 1 at-risk fetus were unaffected and 6 at-risk individuals, including the mother of the fetus, had inherited the disease mutation. The diagnosis was excluded in 2 individuals clinically suspected of Huntington's disease. All but 1 of those investigated had accepted, and adapted to the new reality. The exception was a carrier who asked to discontinue the contact a week after being informed of the results.

Clinical Protocols↗
PubMed1995

Evaluation of human chorionic gonadotropin stimulation tests in prepubertal and early pubertal boys.

We evaluated the diagnostic significance of single versus repeated human chorionic gonadotropin (hCG) stimulation of testicular steroidogenesis in 25 boys (10 prepubertal group A; 15 early pubertal, group B) with suspected hypogonadism. All subjects received a single injection of hCG (5000 U/1.7 m2) and 1 month later, three repeated injections of 1500 U, one each on alternate days. In 19 out of the 25 boys, testosterone increased normally in both tests: from 20 +/- 6 to 156 +/- 82 ng/dl and from 107 +/- 105 to 615 +/- 293 ng/dl, following a single hCG injection, and from 30 +/- 19 to 439 +/- 298 ng/dl and from 94 +/- 55 to 826 +/- 272 ng/dl, following repeated injections in groups A and B, respectively. The difference between the tests was significant (P < 0.01). Conclusion. Single hCG injection used as a screening test in the evaluation of hypogonadism is conclusive when positive. Only when the initial test is negative may a repeated test help establish the diagnosis.

Chorionic Gonadotropin↗
PubMed1995

Hyperprolactinemia after treatment of long-acting gonadotropin-releasing hormone analogue Decapeptyl in girls with central precocious puberty.

OBJECTIVE: To clarify the effects of prolonged treatment with long-acting GnRH analogue on serum PRL levels. DESIGN: Blood PRL levels were measured at 9 A.M. every 28 days for a period of 6 months. SETTING: Pediatric Endocrine Clinic, Hasharon Hospital, Petah Tiqva, Israel. PATIENTS: Thirteen girls with idiopathic central precocious puberty. RESULTS: Hyperprolactinemia developed in 5 of 13 girls after treatment with long-acting GnRH-a; mean blood PRL in all 13 girls rose significantly from 11.9 +/- 5.6 to 21.5 +/- 12.5 micrograms/L (mean +/- SD). CONCLUSIONS: The mechanism of hyperprolactinemia in our patients is unclear. It may have resulted from a decline in the release of the hypothalamic PRL inhibitory factor. Clinically, transient hyperprolactinemia during long-acting GnRH-a treatment for central precocious puberty also may reflect a constant depression of LH secretion.

Female↗
PubMed1995

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.

The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II, TRPS II) is characterized by craniofacial dysmorphism and skeletal abnormalities. It combines the clinical features of TRPS I and multiple cartilaginous exostoses (EXT). We have used YAC cloning, Southern blotting, PCR analysis, and fluorescence in situ hybridization to study chromosome 8 deletions, translocations, an inversion, and an insertion in patients with TRPS I, TRPS II or EXT. Our results indicate that the TRPS gene maps more than 1,000 kb proximal to the EXT1 gene and that both genes are affected in TRPS II. We conclude that TRPS II is not due to pleiotropic effects of mutations in a single gene, but that it is a true contiguous gene syndrome.

Base Sequence↗
PubMed1994

Oligodontia, short stature and small head circumference with normal intelligence.

Complete absence of third molars and mandibular permanent second molars is reported in a 19-year-old female, with occipito-frontal head circumference and height at the 3rd centile. The patient's intelligence, appearance and physical examination were normal. Direct count of the patient's sweat pores in different areas of the palms and digits was normal. Microcephaly, short stature and normal intelligence have been reported in two families as a distinct autosomal dominant syndrome. To the best of our knowledge, oligodontia, in addition to these findings, has not been previously reported.

Adult↗
PubMed1994

Multiple supernumerary teeth (MSNT) and Ehlers-Danlos syndrome (EDS): a case report.

Familial occurrence of supernumerary teeth is reported in a father and his son. While the father had only one supernumerary tooth in the maxillary premolar region, his son had 8 unerupted supernumerary teeth. In addition, both patients had joint hypermobility and stretchable skin, typical of EDS syndrome type III. To the best of our knowledge, the association of supernumerary teeth with Ehlers-Danlos syndrome has never been previously reported. Single supernumerary teeth (SSNT) are most commonly found in the maxillary anterior region, whereas multiple supernumerary teeth prevail in the mandibular premolar region. We suggest that the aetiology of multiple supernumerary teeth may be different from that of single supernumerary teeth.

Adult↗
PubMed1994

Melkersson-Rosenthal syndrome.

Four patients with recurrent upper lip and facial swelling and lingua plicata together with peripheral facial nerve palsy involvement were diagnosed as having Melkersson-Rosenthal syndrome. Because of the rarity of this syndrome in children, we present the results of follow-up evaluations of our patients and review the literature.

Child↗
PubMed1994

Swimming and grommets.

BACKGROUND: Traditionally, children with tympanostomy ventilating tubes, or grommets, were advised that water should not enter their ears in order to prevent ear infections. This group of children has been considered somewhat handicapped regarding swimming. We conducted a prospective study to determine if there is a relation between suppurative otitis media and surface swimming in children with grommets. METHODS: Forty-two children with tympanostomy ventilating tubes were included in this study. Of the 42 children, 22 were swimmers and 20 were nonswimmers, who served as the control group. The age range was 3 to 12 years, and there was no difference in the age distribution between the groups. Surface swimming was allowed without earplugs or a bathing cap, although it was mandatory to use polymyxin B-neomycin-hydrocortisone eardrops at bedtime on the day of swimming. No diving was allowed. RESULTS: Three of 22 swimmers and 2 of 20 nonswimmers developed otorrhea. In 4 of the 5 children, the otorrhea was followed by an upper respiratory tract infection. In all cases, a bacterial culture revealed Pseudomonas. The ear drainage was easily controlled with local otic treatment in all the patients. CONCLUSIONS: Taking into consideration the possible risks of infection and bearing in mind the value and joy of swimming to children and parents, families should be reassured that surface swimming does not increase the risk of infection in children with tympanostomy tubes.

Animals↗
PubMed1993

Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins.

We report on 2 cousins, offspring of consanguineous matings, with multiple congenital anomalies. Square face, frontal bossing with metopic ridge, small anteverted nose, flat nasal bridge, slanted palpebral fissures, and epicanthal folds contributed to an unusual appearance. Multiple bucco-alveolar frenula and notched inferior alveolar ridges were present at birth and one had a notched uvula and submucous cleft of the hard palate. Both had congenital heart anomalies, micropenis, and cryptorchidism. Persistence of Müllerian structures was documented at necropsy in one patient. The surviving patient was mentally retarded and had unilateral central hexadactyly and partial agenesis of the corpus callosum. Bulimia and episodic hyperthermia were attributed to hypothalamic dysfunction. Results of unstimulated endocrine studies and gonadotropin releasing hormone (GnRH), and human chorionic gonadotropin (HCG) stimulation tests were normal. The manifestations of the 2 patients overlap those reported in the OFD VI and Opitz trigonocephaly syndromes.

Abnormalities, Multiple↗
PubMed1993

Leukonychia totalis in two sibs.

A sister and a brother, offspring of unaffected consanguineous Arab parents, were found to have leukonychia totalis and flat, wide nails. To our knowledge this is the first report of apparent autosomal recessive transmission of this trait. A parental somatic mutation with gonadal mosaicism may explain the unusual segregation of the trait in this family.

Child↗