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Biomedical subjects

J L Frias

Publications and source records attributed to J L Frias.

At least 55 records · Page 3Linked to original sources
PubMed1978

Keratoconus and atopic diseases.

In a survey of 162 keratoconus patients, we set out to investigate individual conditions, such as asthma, hay fever, connective tissue syndromes, and eye rubbing, and to determine their relationship of keratoconus. It was found that the prevalence of asthma rises from 0.4% to 1% in the control group to 17.9% in the keratoconus group, or an eighteenfold increase. In addition, the incidence of hay fever in keratoconus patients was found to be 35.7%. As multifactorial disorders, keratoconus and asthma may share some of the multiple genes necessary for the expression of the disorder. Previous findings of excessive eye rubbing in keratoconus patients were confirmed in this study. Finally, we found that the incidence of connective tissue disorders associated with keratoconus was negligible.

Asthma↗
PubMed1978

Genetics in keratoconus: A, B, O blood groups.

A, B, O blood group frequencies and Rh factors were studied in 69 white keratoconus patients and compared with 1,465 healthy white individuals. We did not detect a significant excess of any particular blood group among keratoconus patients. It was concluded that blood groups were not associated with keratoconus.

ABO Blood-Group System↗
PubMed1977

Bone marrow polyamines in children with acute leukemia as related to remission status, therapy, and cellularity of specimens.

Measurements of polyamines have potential practicality as biochemical markers of disease activity in adult cancer patients. On this basis, similar measurements were made in children with leukemia and solid tumors. Fluctuations in blood polyamine concentration were studied in relationship to chemotherapy schematics, cellularity and composition of blood and bone marrow specimens, and remission status of patients. Our results indicate that each of these factors may influence these determinations and consequently their clinical usefulness.

Adolescent↗
PubMed1977

Sclerocornea associated with the Smith-Lemli-Opitz syndrome.

A 2,000-g infant boy had many features of the Smith-Lemli-Opitz syndrome (prenatal growth deficiency and developmental retardation, microcephaly with unusual facies, hypospadias, and feeding difficulties) as well as sclerocornea. The association of this rare eye finding with this rare congenital syndrome is unique. Successful penetrating keratoplasty was performed in one eye at 8 months of age.

Abnormalities, Multiple↗
PubMed1977

Menkes kinky hair syndrome: Is it a treatable disorder?

A male infant with Menkes Kinky Hair Syndrome was treated with a 3-week course of cupric acetate infusions, which was terminated when he developed aminoaciduria. The lack of improvement seen in this infant is representative of the reported experience with parenteral copper therapy in this condition, and may be attributable to the presence of a clinically significant abnormality in copper metabolism in utero.

Administration, Oral↗
PubMed1977

The trichorhinophalangeal syndrome: study of 16 patients in one family.

The trichorhinophalangeal syndrome has recognizable clinical and radiographic features. In most patients, hand radiographs show typical cone-shaped epiphyses which affect predominantly the middle phalanges. Pattern profile analysis may help establish the diagnosis in the absence of typical clinical features of radiographic hand changes. The evolution of hip disease in young and older patients is illustrated and differs from what has been reported previously. Chest and spinal abnormalities, though not well known, are also features of this syndrome.

Adolescent↗
PubMed1977

HLA antigens and keratoconus.

Significant associations have been found between the HLA antigens or haplotypes and certain diseases and deficiencies. These associations have opened up new areas of clinical investigation. In man, associations have been shown between the presence of Hodgkin's Disease and a number of cross-reacting HLA types (BW5, BW15, BW18), between systemic Lupus erythematosus and HLA type BW15 in Caucasians and BW35 in blacks, between HLA B37 and ankylosing spondylitis in Caucasians, between HLA B8 and gluten-sensitive enteropathy and between HLA B13 and psoriasis, a disease having a strong hereditary element. In ophthalmology, Shin and Becker have shown that the prevalence of HLA B7 and B12 antigens was significantly higher in patients with primary open-angle glaucoma than in the non-glaucomatous population. The purpose of this communication is to report the presence of HLA B27 antigen in the mother and two siblings with keratoconus.

Adolescent↗
PubMed1975

A free clinic for youth in an academic department of pediatrics.

The Gainesville Youth Clinic was organized to meet a community need for medical care of nonuniversity youth and to provide experience in adolescent medicine to pediatric house officers. Demographic and clinical data were gathered in three studies spanning the first 15 months of operation. The clinic sees 2,200 patients (3,000 visits) annually; two thirds are girls, 98% are white, and 90% are 15 to 25 years old. The population was not predominantly transient; parental occupations were mostly professional or skilled. Educational level was consistent with age; one third of the patients are students at present. Genitourinary problems, principally venereal infection, account for nearly one third of all visits and suspected pregnancy or birth control another one fourth. The clinic experience has emphasized the youth cultural influences on health, increased the participant's insight into the emotional turmoil of adolescence, and has suggested a style and design for providing primary care to this population consistent with the academic objectives of a pediatric department.

Adolescent↗