Search PubMed⌕ Search

Biomedical subjects

R Gracia

Publications and source records attributed to R Gracia.

At least 37 records · Page 2Linked to original sources
PubMed1985

[Growth retardation, GH deficiency, hyperprolactinemia and delayed puberty].

A case of a male eleven years and three months old, brought to medical attention for short height, is reported. A deficiency of growth hormone associated with hyperprolactinemia without previous clinical manifestations is appreciated in endocrinological study. Detectable tumor is not apparent in any of the investigations performed. HGH and bromocriptine therapy is initiated, resulting in and increase in height and a decrease of prolactin. Currently, at fifteen years four months of age, clinical and analytical data suggest a case of hypogonadism and puberal retardation as well.

Child↗
PubMed1984

[Precocious pseudopuberty secondary to granulosa cell tumor].

A case report of pseudoprecocity secondary to a unilateral ovarian tumor of granulosa cells is presented in a 13 month old female. Clinical manifestations appeared at two months of age as unilateral enlargement of the breast, development of pubic hair and vaginal discharge. Plasma estrogen levels were elevated, whereas there was no response of FSH and LH to LH-RH stimulation. The absence of a palpable abdominal mass and a normal ultrasound examination of the abdomen must be pointed out in our case. The suspected clinical and laboratory diagnosis was later confirmed by surgical abdominal examination and ovarian histopathology study. With the exception of a minimal breast enlargement which persists at two years of age, all other signs of pseudoprecocity have disappeared after the surgical removal of the neoplasm. The importance of surgical abdominal examination must be pointed out as a diagnostic method when clinical and laboratory findings suggest an ovarian tumor inspite of normal abdominal palpation, ultrasound and roentgenology.

Female↗
PubMed1982

[Thrombocytopenia-absent radius syndrome (author's transl)].

A patient affected with thrombocytopenia and bilateral absence of radius is described. Authors present data suggesting an acquired etiology: intrauterine cytomegalovirus infection and X-ray exposure during the ovulatory period. Patient showed some radiological features not previously described: methacarpian synostosis and absence of sternum ossification centers. Anemia was etiologically related to the iron deficiency secondary to bleeding. Chronic diarrhea, a feature common in this syndrome, was caused by cow's milk protein intolerance, other causes of chronic diarrhea, like pancreatic malfunction or disaccharidal intolerance were discarted. Finally comments on the differential diagnosis of the illness, its' evolution and treatment, pointing out the possibility of an intrauterine diagnosis, crucial for a correct genetic counselling are made.

Abnormalities, Multiple↗
PubMed1982

[Partial 10q trisomy (q24;q ter) caused by a balanced maternal translocation t(6;10)(q26;q24)].

Authors have had the opportunity to study a patient affected by a malformative syndrome with severe motricity and mental retardation. Physical findings (namely: spacious forehead, flat and round face, small palpebral fissures, hypotonicity and growth retardation) are similar to the phenotype previously described in trisomy 10q. Chromosomal diagnosis failed until G, Q and R banding technique was applied. With this technique a partial 10q trisomy (q24 leads to q ter) due to a maternal translocation t(6:10)(q26;q24) was found.

Abnormalities, Multiple↗
PubMed1981

Partial trisomy 20.

A child with a facial dysmorphy and congenital malformations, showed in the chromosome analysis a partial trisomy of chromosome 20. This anomaly, resulted from a maternal translocation t(11;20), (q35;q11).

Abnormalities, Multiple↗
PubMed1981

[9p trisomy syndrome. Two new cases (author's transl)].

Two cases of trisomy 9p, are reported affecting different break points involving chromosome 9; one of them showed skeletal abnormalities of importance. An analysis of the two cases reported is done and some of the last hypothesis in order to determine genetical and clinical correlations of the syndrome are considered.

Abnormalities, Multiple↗
PubMed1980

[Leydig cell tumor with pseudoprecocious puberty (author's transl)].

Authors present a case of a Leydig cell testicular tumor in a boy aged three years with a six-month follow-up. This type of tumor which is usually hormone-producing has in children a virilizing effect giving signs of pseudoprecocious puberty. Hormonal tests before and after surgery are described as well as the histological study. The various possibilities of differential diagnosis, treatment and prognosis in the presence of a unilateral testis enlargement in a boy are commented.

Child, Preschool↗
PubMed1977

[Diabetes insipidus in infancy. II. Study of eleven cases (author's transl)].

Eleven cases of diabetes insipidus are revised and distributed in the following four groups: I. Idiopathic diabetes insipidus, three. II. Secondary diabetes insipidus, four. III. Nephrogenic diabetes insipidus, two. IV. Psychogenic diabetes insipidus, two. In all these cases, clinical parameters, general analysis, hydric metabolism (static and dinamic), are studied. The precocious beginning of psychogenic diabetes insipidus, and some conclusions, on a difficult case of hard diagnosis are emphasized.

Adolescent↗
PubMed1977

[Turner's syndrome (author's transl)].

Twenty cases of Turner's syndrome are presented. Ten cases showed cariotype XO, nine XO/XX and one case showed mosaicism with three cell lines one of which showed a ring chromosome (XO/XX/XXr). The clinical characteristics of syndrome and the associated malformations are appraised. Commentaries are made about ultimate height attained by this patients.

Biopsy↗
PubMed1975

Portsmouth syndrome: review of the literature and clinicopathological correlation.

Hereditary and acquired abnormalities of platelet function are recognized more frequently. Recent advances in platelet physiology have led to new tests of platelet function. Assessment of platelet adhesiveness and aggregation have allowed more definitive classification of platelet dysfunction. Platelet abnormalities will not be diagnosed before surgery. It would be impractical to perform these tests for platelet function as screening procedures on all patients; however, they should be considered as an important part of the laboratory screening for abnormal postoperative bleeding.

Adult↗