Biomedical subjects
Publications and source records attributed to S Tomarchio.
Nine members of a Sicilian family, in four successive generations, showed a congenital eye defect of much variable severity, from simple blepharoptosis to complete external ophthalmoplegia, without other ocular or extraocular abnormalities. The anomaly in this pedigree was transmitted as an autosomal dominant character with incomplete penetrance and extremely variable expressivity.
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Preliminary results of a pilot study on congenital hypothyroidism performed on 8,025 newborns in Italy over a 10-month period are reported. The determination of both T4 and TSH on dried blood, spotted on filter paper, as screening procedure at day 3-5 of life revealed three cases of primary hypothyroidism and one case of hypo-thyroxin-binding-globulinemia (hypo-TBG-emia). The diagnosis of primary hypothyroidism was established on the basis of low T4 and high TSH levels in two of the three cases; in the third, with elevated TSH and normal T4 levels at screening, thyroid scintiscan showed an ectopic gland located at the base of the tongue. In the case of hypo-TBG-emia, low T4 and TBG levels were associated with normal TSH values. Some cases of transient hypothyroidism were observed in premature infants.
During a pilot screening program for congenital hypothyroidism, performed in Italy over a three years period on 38,000 newborns, seven cases (1/5,400) of thyroxine-binding globulin (TBG) deficiency, have been detected. None of these infants was affected by any pathology or had been treated with drugs which could explain TBG deficiency as an acquired condition. Familial studies pointed out that the transmission of the defect is consistent or compatible with X-chromosome linkage.
Prophylactic cholecystectomy for asymptomatic gallstones is still controversial. Aim of the study was to assess whether the determination of serum acute phase proteins (APP) could be utilized as a criterion for cholecystectomy, as they are suggestive of the presence in the blood of cytokines released from the inflamed gallbladder wall, even when clinical signs are missing. In 75 cases of gallstones, free from other coexistent inflammatory processes, red cell sedimentation rate, plasmatic cortisol, immunoglobulin (IgA, IgG, IgM), electrophoresis of the proteins, CPR, fibrinogen, haptoglobin, alfa-1-antitrypsin and bile culture have been detected. The patients have been subdivided into two groups: patients with asymptomatic or mildly symptomatic disease and patients with a clear clinical pattern of acute cholecystitis. In the latter alfa-1-globulin, alfa-2-globulin, ESR, CPR and cortisol turned out to be significantly elevated, while in 20-30% of the former CPR, beta-globulin and cortisol were increased, too. The study demonstrates that among the patients with asymptomatic gallstones there is a population having PFA values higher than normal. This is suggestive of a cytokines activation which, when other inflammatory processes can be excluded, is likely due to gallbladder inflammation and surgery will likely be indicated.
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Inside a pilot screening program for Congenital Hypothyroidism, T4 and TSH have been tested in sick and healty preteam and fullterm low birth weight (LBW) newborns during the first two months of life, 36 newborns affected by respiratory distress syndrome and 15 by sepsis have been included in the study. Blood samples were collected by heel puncture on 3rd, 10th, 20th, 40th and, in some cases, up to 60th day of life, and adsorbed on filter paper. Our findings show that hypothyroxinaemia in LBW newborns is strictly related to gestational age. In fact, among preterm infants with GA less than or equal to 33 weeks, 25 subjects (69,44%) showed T4 levels less than or equal to 6 micrograms/dl and 5 infants (13,88%) had T4 concentrations less than or equal to 2 micrograms/dl. The incidence of subjects with T4 values less than or equal to 6 micrograms/dl falls to 42,18% in the group of infants with GA = 34-36 weeks and to 17,27% in the group of fullterm LBW infants. None of these newborns showed thyroxine levels less than or equal to 2 micrograms/dl. All the examined infants showed normal TSH levels. The low T4 values may appear soon after birth or later (3rd-20th day of life) and sometimes persist up to 40th or 60th day, despite of always normal TSH levels. The mean of low T4 values at each sampling time is strictly and directly related to gestational age. (ABSTRACT TRUNCATED AT 250 WORDS)
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A case of full-thickness necrosis of the small bowel, and colon, which required partial resection of the jejunum and total resection of the ileum and colon is reported. The case gives the chance for a review of the Literature on intestinal necrosis not caused by vascular occlusion. Nonocclusive intestinal ischemia, acute neonatal necrotizing enterocolitis and adult necrotizing enterocolitis including the Pig-bel disease, common in Papua-New Guinea, are examined. Resemblances and differences in etiology, pathophysiology and clinical findings are discussed. The hypothesis that the process of "bacterial translocation" plays a central role in the pathogenesis of bowel infarction, representing therefore a possible link between infective and vascular mechanisms, is emphasized. Important suggestions on massive intestinal necrosis management are also reported.