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Biomedical subjects

J Ginsberg

Publications and source records attributed to J Ginsberg.

At least 91 records · Page 5Linked to original sources

Results of a regional cord blood screening programme for detecting neonatal hypothyroidism.

Our regional cord blood screening programme for detecting neonatal hypothyroidism using initial cord blood thyroxine (T4) determinations, with supplemental thyrotropin (TSH), and triiodothyronine resin uptake (T3U) measurements, gave an incidence of thyroid abnormalities of 1/3000 births, with 1/5000 infants having severe primary hypothyroidism. No hypothyroid infant detected in the programme had been suspected clinically before the screening and, in retrospect, only a few babies had any signs of hypothyroidism. Supplemental TSH and T3U determinations were required on 8-12% of the population screened initially with a T4 test to avoid missing affected cases. With an initial T4 and supplementary TSH and T3U testing on cord blood serum, recalls to exclude primary hypothyroidism were reduced to 0.16% of the screened population. The incidence of abnormalities detected in this cord blood screening programme was comparable with that reported by others using neonatal dried blood screening methods, indicating that cord blood screening can be effective provided the appropriate recall criteria and transport conditions are used. Nevertheless, for several practical reasons, neonatal dried blood methods are recommended as the screening test of choice for surveying large populations over extensive geographical areas.

Female↗

Multiple congenital ocular anomalies with bilateral agenesis of the urinary tract.

A 1,350 gm female infant with features of the Potter syndrome (dysplasia renofacialis) had multiple ocular anomalies. Absence of keratocytes in the central corneal stroma, cataract, retinal ganglion cell and nerve fiber hypoplasia, loss of optic nerve bundles, and angiomatoid proliferation in the area of the optic disc are most striking. Some of these findings, especially in the cornea, may reflect mesoectodermal dysgenesis. Abnormal ocular angiogenesis may well comprise a part of Potter's syndrome.

Adult↗

Parathyroid cysts. Medical diagnosis and management.

Two patients had asymptomatic neck masses that proved to be cystic. In each case, the lesions resolved after needle aspiration of 25 ml of clear, colorless fluid. Serum thyroid indexes and calcium levels were normal. Cyst fluid parathyroid hormone (PTH) levels were 0.56 and 1.50 ng/ml, respectively. The serum PTH level in case 1, determined at the same time, was less than 0.05 ng/ml (normal, 0 to 0.3 ng/ml). These observations indicate that (1) clear, colorless cyst fluid may indicate a parathyroid cyst, (2) serum and cyst fluid PTH levels can confirm the diagnosis, and (3) needle aspiration may be appropriate therapy for the benign, nonfunctioning parathyroid cyst.

Adult↗

3,3',5'-triiodothyronine, thyroxine, triiodothyronine, and thyrotropin levels in maternal and cord blood sera from endemic goiter regions of Brazil.

T4, T3, rT3, and TSH were measured in cord blood of infants born in mild to severe endemic goiter areas and nonendemic urban areas in South and North America. A significantly high rT3 concentration was found in newborns living in the urban area of South America as compared to a Canadian newborn population. There were no differences among the various thyroid parameters in the groups of newborns studied. Blood from goitrous mothers showed significantly higher concentrations of T3 and TSH than nongoitrous mothers. However, these changes did not affect the concentrations of thyroid hormones, rT3, or TSH in the fetal circulation.

Brazil↗

Ocular abnormality in myotonic dystrophy.

A 61-year-old white woman with terminal myotonic dystrophy exhibited advanced peripheral and central retinopathy. Retinal lesions were characterized by hyperpigmentation, common, though nonspecific, in myotonic dystrophy. They resemble both heredo (tapetoretinal) and idiopathic involutional degenerations but rarely cause severe visual impairment. Neither the type nor degree of retinopathy appears to correlate with other ocular features or with the stage of the underlying disease. Our histologic observations confirm and extend those previously described. Electron microscopy suggests a primary disorder of mitochondria which may also affect smooth muscle and the myocardium.

Choroid↗

Post-partum transient thyrotoxicosis with painless thyroiditis.

5 patients presented with transient thyrotoxicosis and painless thyroiditis in the post-partum period. Thyrotoxicosis developed within 1-6 months of delivery. All had small non-tender goitres. Initially, all patients had elevated values for thyroxine (T4), triiodothyronine (T3) uptake, and triiodothyronine by radioimmunoassay (T3[R.I.A.]). Radioactive-iodine uptake (R.A.I.U.) was suppressed in all. In all patients, thyrotoxicosis resolved within 4 months; subsequent transient hypothyroidism occurred in 4, 1 developing permanent myxoedema. 2 had persistently elevated thyroid-antibody titres and needle-biopsy findings compatible with chronic thyroiditis. 1 became permanently hypothyroid. The other 3 patients had serial clinical and laboratory findings suggestive of painless subacute thyroiditis. Serial thyrotrophin-releasing-hormone (T.R.H.) stimulation tests are also reported. The importance of the low R.A.I.U. in recognising painless thyroiditis is emphasised. Since the disorder is self-limited, conservative therapy should be given.

Adult↗

Malignant inverted papilloma characterized by proptosis.

An inverted papilloma, presumably originating in the ethmoid sinus, was characterized by proptosis in a 67-year-old man. Clinically and radiologically it simulated a primary orbital tumor. Squamous carcinoma appeared in this lesion; irradiation and exenteration, 3 1/2 years after onset of symptoms, failed to prevent fatal intracranial extension.

Aged↗

Cystic retinoblastoma.

A grossly cystic retinoblastoma, presumably a form of the diffuse infiltrating type, mimicked uveitis in an 81/2-year-old boy. A review of 44 cases indicated that grossly (clinically) detectably cysts are rare in this neoplasm, although microcysts are relatively common. Lesions of this nature, especially if presenting with a history of trauma, as in our patient, may lead the ophthalmologist to diagnose uveitis. The diagnosis of retinoblastoma may thus be unduly delayed.

Child↗