PubMed Health⌕ Search

Biomedical subjects

J Berard

Publications and source records attributed to J Berard.

At least 19 recordsLinked to original sources
PubMed1992

Generalized thyroid hormone resistance: identification of an arginine to cystine mutation in codon 315 of the c-erb A beta thyroid hormone receptor.

The present report studies a large kindred (WR) with generalized thyroid hormone resistance that has varying degrees of neuropsychological dysfunction, hyperactivity, poor attention span, decreased IQ and/or abnormalities in spatial perception. In this kindred, there has been found tight linkage of the syndrome with the c-erb A beta gene. The present study was performed to identify the presence of a possible gene mutation as a cause for this syndrome. DNA from peripheral leukocytes was isolated from 15 unaffected and 8 affected individuals from the kindred. Primers encompassing exons 9 (nucleotides 1171-1429) and 10 (nucleotides 1430-1698) were synthesized and used in PCR reactions to amplify these exons. Direct sequencing revealed a consistent substitution in each affected subject, but in none of the unaffected individuals, of a C to T change in one allele from nucleotide 1243, resulting in an arg to cys change in codon 315. The mutant and wild-type human beta 1 receptors were prepared and their translated proteins were analyzed for T3 binding. The WR T3 receptor from affected patients had reduced T3 binding affinity, with values approximately 2.5 x 10(10) M-1 compared to about 5 x 10(10) M-1 in normals. In summary, we have: i) identified a consistent and reproducible mutation of a C to T change in nucleotide 1243 in each of the affected but in none of the unaffected individuals of a large well characterized kindred with generalized thyroid hormone resistance; and ii) noted that the WR allele causes an approximate 50% decrease in the T3 binding affinity.(ABSTRACT TRUNCATED AT 250 WORDS)

Arginine↗
PubMed1990

[Pygomelus. Apropos of 2 cases and a review of the literature].

The authors report two rare cases of pygomelus monster. The appearance and operative procedures undertaken are described. Pygomelus and caudal duplication are often mixed in literature. This monstruosity is classified in the twin monsters, but minor forms any be discussed with sacro-coccygeal teratomas and reduplication of lower limbs.

Buttocks↗
PubMed1990

[Pygomelus. A single monster or a double monster?].

With an anatomical case and a clinical case, the authors describe the pygomelus, a very rare monstruosity. Legend and reality are often mixed in the description of literature. It is difficult to classify this monstruosity either in the simple monster or in the twin monsters.

Abnormalities, Severe Teratoid↗
PubMed1988

[Spontaneous epiphyseal separation in children with spina bifida. Apropos of a series of 12 cases].

Unknown complication but nevertheless frequent, the spontaneous slipped epiphyseal injury in child with spina bifida states the problem for its diagnosis and its treatment. The authors give their experience about 12 cases in 10 children, insisting on the problem of the pseudo-infected and the pseudo-tumoral cases with an early diagnosis. A review of the literature is made about this subject. The treatment is generally orthopaedic excepted at the hip where it is surgical. A physiopathogenic study is made; explaining the mechanism, the frequency of this pathology and its complications.

Bone Neoplasms↗
PubMed1986

[Congenital superior radioulnar synostoses. A study of 43 cases].

Superior radioulnar synostosis is a rare abnormality which frequently gives rise to functional disability. Its pattern of inheritance is uncertain. We have studied 29 children, 18 boys and 11 girls, who had a total of 43 such synostoses. Twenty children had significant functional disability. Fourteen required operation, 10 undergoing a Judet's osteotomy and 4 osteotomy of the lower end of the radius. The dominant hand was placed in the position of function, and the other in 30-40 degrees of supination. The osteotomies were secured by pins and supported in a plaster splint. Use of the forearm and hand was improved in all cases. Operation is best carried out between the ages of 4 and 10, and a useful functional improvement can be expected.

Age Factors↗
PubMed1986

[Plant prickle arthritis in children. Apropos of 6 personal cases].

Six children with arthritis after penetration of a vegetable prickle into the joint are reported. The affected joints were the knee (5 fold) and the elbow (1 fold). The prickles were of palm-tree (2 cases), sloe-tree (2 cases) or unknown (2 cases) origin. The culture of the synovial fluid was negative and the diagnosis was based on microscopic examination of the centrifugated fluid. Four patients needed synovectomy.

Arthritis↗
PubMed1985

[Spina ventosa, a historic disease].

We report a case of tuberculous dactylitis--spina ventosa--in a 5 year-old girl from a French upper class family. Being today an unusual affection, the diagnosis of spina ventosa can be missed. Symptoms and means of diagnosis are reviewed.

Antitubercular Agents↗
PubMed1985

[Epiphysiolysis of the hip following radiotherapy of pelvic tumors in early infancy. Apropos of 5 new cases].

Five personal cases of slipped capital femoral epiphysis in children submitted to pelvic radiotherapy and nineteen similar observations are reported. This complication appears around 6 years after radiotherapy; its frequency increases with high radiations doses and associated chemotherapy. Weakening of the epiphyseal plate is probably involved whatever radiations voltages. Surgical treatments should be confined to epiphysis fixation. As this complication can secondarily affect the other hip, preventive controlateral fixation must be discussed.

Antineoplastic Agents↗
PubMed1984

[Importance of the E. Luque technic in the surgery of major spondylolisthesis in children].

Following a brief summary of results of surgery of major spondylolisthesis of children using Harrington's technique, the outcome in 15 cases operated upon between 1967 and 1983 is discussed. Satisfactory short-term results (reduction perfect in 40% and fair in 60%) were not maintained and a relapse of sliding occurred in 50% at a later stage. In order to improve long-term stability. Harrington's classical procedure was combined with Luque's technique with binding of posterior arches of L3 and L4 to metallic spars in major L5-S1 spondylolisthesis. Two adolescents with very disabling L4-L5 spondylolisthesis were operated upon by Luque's original method combining partial resection of supra- and sub-jacent articular surfaces and isthmic reconstruction by grafts with excellent immediate results. This method is also discussed.

Adolescent↗
PubMed1984

Intestinal parasites of the free-ranging Cayo Santiago rhesus monkeys (Macaca mulatta).

Free-ranging rhesus macaques on the island of Cayo Santiago, Puerto Rico, were surveyed for intestinal parasites for the first time in over 40 years. Results were compared with the only previous study, and the relationships between the prevalence of Strongyloides and dominance rank, body weight, age, and matriline examined in the sampled population.

Age Factors↗
PubMed1983

[Idiopathic ostonecrosis of the scaphoid tarsal bone (Köhler's second disease)].

The authors report 9 cases of major radiological abnormality of the navicular bone, of which only 5 were cases of Köhler's disease. The diagnosis of this disease requires a combination of clinical and radiological signs, the isolated presence of radiological signs only represents abnormalities of ossification which are very common in this bone. The treatment is generally accepted to be plaster immobilisation, but its duration is a topic of debate, varying between 4 and 8 weeks, according to different authors.

Child↗
PubMed1982

[Negative bone scintigraphy in osteomyelitis in children. Difficulties in interpretation].

The authors relate 7 cases of hematogenous osteomyelitis in children where skeletal scintigraphy with TC 99m diphosphonate was said as normal. They analyse the lack of positive radionuclide findings; misinterpretation, abnormal tracer accumulation which probably relates to regional hyperemia, transient area of discreased uptake of the tracer in the early phase of the disease and real negative bone scan; these cases are rare; when there is a high suspicion of osteomyelitis in spite of a normal bone scan Gallium imaging may be helpful.

Child↗
PubMed1980

[Mesoblastic nephroma. Apropos of 6 cases].

6 cases of congenital mesoblastic nephroma removed surgically between 5 days and 2 months 1/2 of age are reported. The authors point out the peculiar histological aspect of this tumor : myomatous or fibromyomatous proliferation which surround in some places normal or dysplastic glomerular or tubular structures and penetrates by digitations in parenchymatous elements without destroying them. At the periphery of the tumor there are some lymphatic capsular ectasia or lymphoid infiltration or cartilaginous islets. In case of a renal tumor of the newborn or infant they emphasize the necessity to search for a congenital mesoblastic nephroma in order to avoid all types of radio therapic or chimiotherapic treatment without histological diagnosis. These forms of therapy are responsible for severe complications heavily impairing a prognosis which in most cases is an excellent one when nephrectomy alone is carried out. In some exceptional cases it seems useful to add other forms of therapy when the tumor proves itself to be of a peculiar aggressivity macro or microscopically.

Female↗
PubMed1980

[The surgical treatment of pseudoarthroses and congenital curvatures of the leg. Review of the literature on the basis of 7 personal cases (author's transl)].

On the basis of 7 personal cases of pseudarthrosis and of congenital curvature of the leg reported in detail, including 6 in which consolidation was obtained with a valid follow up (5 cases for more than 14 years), a review is undertaken of the results of surgical techniques. Analysis of these 7 cases and of 82 sufficiently detailed cases from the literature indicate that the transtarsal nailing suggested by Guillemin, combined with corticospongiose grafts, remains the technique of choice. A number of suggestions are made on particular technical points. This method results in consolidation and above all offers the best protection against recurrent fractures whilst retaining a good axis and without interfering with growth. It is the method which limits to a minimum the sequelae of shortening and valgus deformity of the ankle. Indications differ for curvatures and constituted pseudarthroses and the age at which treatment should be started is discussed.

Adolescent↗