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Biomedical subjects

M Frydman

Publications and source records attributed to M Frydman.

At least 55 records · Page 3Linked to original sources
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↗
PubMed1993

Alpers progressive infantile neuronal poliodystrophy: an acute neonatal form with findings of the fetal akinesia syndrome.

We report on 8 patients from two families with Alpers syndrome. The onset in one family was prenatal and in the 4 patients who were examined, severe microcephaly, intrauterine growth retardation, and typical manifestations of fetal akinesia, including retrognathia, joint limitations, and chest deformity were found. The second family presented with an early infantile form. All the affected offspring had micrognathia and one had findings of fetal akinesia, comparable to those seen in the other family. Microcephaly was mild at birth and progressed with age. Refractory neonatal convulsions, swallowing difficulties, and pneumonia complicated the clinical course of patients in both families, and all the patients died before age 20 months. Results of comprehensive biochemical and metabolic studies in both families were normal and the diagnosis was supported by demonstration of extensive progressive brain atrophy on CT and typical histological findings. Patients without a detectable defect in energy metabolism and normal liver histology comprise a distinct subset of Alpers syndrome. Until the metabolic defect(s) is defined, we suggest naming the acute neonatal form of this subset of Alpers syndrome "type 1."

Abnormalities, Multiple↗
PubMed1993

Familial segregation of cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction: a new syndrome?

In a consanguineous Jewish family originating from Bombay, India, the propositus presented with anal atresia, micropenis, urethral obstruction with secondary prune belly, omphalocele, patent urachus, and cryptorchidism. The kidneys were dysplastic and he had the Potter phenotype with limb deformities. Additional findings included IUGR with microcephaly, congenital heart defects, spinal anomalies, and hypoplastic lungs. The mother and all three sisters had cervical ribs, and she and one sister had 11 pairs of thoracic ribs. The other two sisters had chronic immune thrombopenia. One of those had bilateral Sprengel deformity with homovertebral bones, club feet, and microcephaly and the other sister also had unilateral preaxial hexadactyly. Although familial segregation of cervical ribs and Sprengel deformity has been reported, the association of the findings in this family is unique and may represent a new syndrome. X-linked dominant transmission may explain the severe manifestations in the affected male, but other modes of inheritance may also apply.

Abnormalities, Multiple↗
PubMed1993

The otolaryngologist and the patient with velocardiofacial syndrome.

Velocardiofacial syndrome is the most common syndrome associated with clefting of the secondary palate. The endoscopically diagnosed occult submucous cleft palate is the most common palate anomaly associated with this syndrome. Patients with velocardiofacial syndrome present a special challenge to the otolaryngologist, who must be familiar with the diagnostic and therapeutic aspects of this syndrome. We report the findings in 21 patients with velocardiofacial syndrome. Only 11 (52%) had the typical manifestations, and others had only partial phenotype. Adenoidectomy must be avoided in these patients, since undiagnosed occult and overt submucous cleft palate are the most common cause of velopharyngeal insufficiency after adenoidectomy. Three patients had aberrant carotid arteries. This anomaly must be excluded by nasoscopy and computed tomographic scanning before pharyngeal flap surgery is considered in these patients. Criteria for exclusion of high-risk patients from adenoidectomy are presented and discussed.

Abnormalities, Multiple↗
PubMed1993

Familial isolated growth-hormone deficiency with advanced sexual maturation.

Two brothers, aged 15 1/2 and 13 1/2 years, with dwarfism, microcephaly, and advanced sexual and skeletal maturation are described. One patient was mentally retarded. The parents were first cousins. Endocrine studies of these patients documented low growth-hormone levels after clonidine and insulin stimulation and blunted growth-hormone response to growth hormone releasing hormone. Gonadotropin releasing hormone stimulation produced no changes in levels of luteinizing and follicle-stimulating hormones. Basal levels of 17-alpha-hydroxyprogesterone were elevated in the two patients and increased further in response to stimulation with corticotropin. Levels of testosterone, dehydroepiandrosterone sulfate, and androstenedione were variably increased in both patients and showed a proportional increase on stimulation with human chorionic gonadotropin. To our knowledge, this is the first report of a familial association between growth-hormone deficiency and advanced bone and sexual maturation. A pituitary and an independent adrenal defect could account for the observations in these patients, but in view of the familial recurrence, a common underlying defect is possible.

Adolescent↗
PubMed1993

Unverricht-Lundborg disease: absence of nonallelic genetic heterogeneity.

Unverricht-Lundborg disease is a clinically recognizable form of progressive myoclonus epilepsy. Recently, in several families of both Finnish and Mediterranean extraction segregating Unverricht-Lundborg disease, the gene for this disease was linked to the same region of the long arm of chromosome 21. We performed linkage analysis in eight families, including four of neither Baltic nor Mediterranean origin, using a polymorphic (CA)n repeat marker for the human liver-type 6 phosphofructokinase (PFKL) gene, previously mapped to 21q22.3. No recombinations were observed between the disease phenotype and the PFKL marker and a maximum lod score of 5.63 was obtained. These findings confirm tight linkage between PFKL and the gene for Unverricht-Lundborg disease and strongly suggest a lack of nonallelic genetic heterogeneity of the disease.

Adolescent↗
PubMed1993

Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variant.

Hereditary motor-sensory neuropathy with sensorineural deafness is described in a family; the neurologic features and deafness were apparent in early childhood and infancy. The clinical syndrome in the family was not closely linked to the Duffy blood group, nor was duplication demonstrated at the disease-associated locus 17 p11.2. This family may represent a different form of this heterogeneous disease.

Adolescent↗