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Biomedical subjects

P Mujica

Publications and source records attributed to P Mujica.

13 recordsLinked to original sources
PubMed1990

Sublocalisation of the X breakpoint in the translocation (X; 18)(p11.2; q11.2) primary change in synovial sarcomas.

A specific translocation between chromosomes X and 18 was identified in synovial sarcomas. From a girl with synovial sarcoma, we isolated two clones with t(X; 18)(p11.2; q11.2) and which had lost the normal X chromosome. Southern blot analysis of DNA from the tumor, the patient and her parents demonstrated that the normal X chromosome, lost in the tumor, was the paternal one. A somatic hybrid cell line was established by fusing tumor cells (after passages on athymic mice) to an HPRT deficient hamster cell line. By cytogenetic, in situ hybridization and molecular analysis, it was found to contain the derivative (X) chromosome in the absence of the der (18) chromosome. To determine the position of the breakpoint on the X chromosome, Southern blots of DNA from this hybrid were hybridized to [32P]-labelled X chromosome probes. DXS146 and DXS255 were retained in the hybrid cell line whereas GAPDP1, the ARAF1 and TIMP proto-oncogenes were not present, indicating that the breakpoint lies proximal to GAPD1, ARAF1 and TIMP and distal to DXS255 and DXS146. Results obtained from other authors are compared. Further studies will be necessary to determine the extent of variation of the breakpoint in different tumors.

Blotting, Southern↗
PubMed1990

Achilles tendinitis in ballet dancers.

Overuse injuries of tendons are known to occur in persons whose activities submit the tendon to excessive stress. Classical ballet dancers performing en pointe, demie point, or plié exert forces that, although normal in magnitude, are increased in frequency, thus overusing the Achilles tendon. In the present study all cases of Achilles tendinopathy seen in a period of three years in three ballet companies were reviewed by a special orthopedic clinic. The cause, whether by abnormal tension or incorrect use, development, and progression to chronic tendinopathy, as well as measures to prevent it, were analyzed in 19 cases. The methods of treatment, including conservative treatment with rest and refraining from dancing, local treatment such as ice and adhesive strapping, antiinflammatory drugs, local injections, thermotherapy, and laser therapy, were compared, and the time of recovery and ability to resume dancing were evaluated. Two cases required surgical treatment to subside, and the patients had to retire from professional dancing. The roentgenographic diagnosis of stage and progression of the tendinopathy is emphasized as a valuable accessory sign. The similarity in lesions between Achilles and patellar tendon problems was observed and confirmed.

Achilles Tendon↗
PubMed1989

Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations.

A family carrying the X-linked gene for hypohidrotic ectodermal dysplasia (hereditary ectodermal polydysplasia or Christ-Siemens-Touraine syndrome) over three generations was monitored for more than 15 years. Two prenatal diagnoses were carried out by fetoscopy on skin biopsies. Polymorphic probes were used in the segregation analysis of the Xq11-21 region carried out on 30 members of the family. Current screening possibilities for the carriers and prenatal diagnosis are discussed.

Ectodermal Dysplasia↗
PubMed1989

A case of Alagille's syndrome with translocation (4;14) (q21;q21).

This paper reports a case of Alagille's syndrome, in association with a translocation 46,XY,t(4;14)(q21;21). The possible relationship between this autosomal dominant syndrome and the apparently balanced chromosomal rearrangement is discussed.

Bile Ducts, Intrahepatic↗
PubMed1989

Interstitial deletion of the long arm of chromosome 6.

A de novo interstitial deletion of 6q21 was observed in a male baby with moderate microcephaly, facial dysmorphism, and psychomotor retardation. In situ hybridization with a c-myb probe showed that the gene was conserved on the deleted chromosome.

Chromosome Deletion↗
PubMed1988

Coffin-Lowry syndrome: a multicenter study.

The Coffin-Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The occurrence of severe manifestations in males, with no instance of male-to-male transmission, suggests an X-linked inheritance. The paper describes seven families from five European Centers.

Adult↗
PubMed1985

[Prenatal diagnosis of triploidy. II. Biological studies].

In three cases of triploïdy, the origin of extra haploid set is found by chromosomal and HLA markers. It does not confirm a relationship between paternal origin and partial hydatidiform mole. In case of prenatally diagnosed triploïdy, a protocol for biological studies is suggested.

Dosage Compensation, Genetic↗
PubMed1976

Vertebral hydatid disease. Clinical experience with 27 cases.

The authors present 27 cases of vertebral hydatidosis with clinical and laboratory findings. The most frequent location of the lesion was the lumbar spine. Principal neurological symptoms were paraparesis, sphincter disturbances, paresthesia and paraplegia. The average number of surgical interventions per patient was 2.6; the most common procedure was laminectomy with extirpation of the cyst and surgical toilet. The results of surgical treatment were generally good in the immediate postoperative period, but long-term results were poor.

Adolescent↗
PubMedDate not supplied

Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis.

The Coffin-Lowry syndrome (McKusick No. 30360) is a rare genetically transmitted disorder characterized by severe mental retardation, "coarse" facial appearance, thick soft skin, tapering fingers, and progressive skeletal abnormalities. X-linked inheritance is implied since the males are severely affected with variably mild manifestations in carrier women. We have performed a linkage analysis with many X-linked RFLP markers in 4 families. Positive two-point lod scores were obtained with DXS28 (z(theta) = 2.00 at theta = 0.05) and DXS41 (z(theta) = 1.26 at theta = 0.10). We performed a 5-point linkage analysis using the LINKMAP program assuming that DXS16 and DXS43 are a single locus and using the following fixed map (distances in centimorgans): DXS85 - 18cM - (DXS16, DXS43) - 13cM - DXS41 - 5cM -DXS28. This gave a multipoint lod score of 3.41 for a localisation in Xp22.2-p22.1, between DXS43 and DXS41.

Bone Diseases, Developmental↗