X chromosome instability associated with familial Turner syndrome

A family with two members (two generations) exhibiting Turner syndrome is described. Cytogenetic studies on these individuals showed the presence of multiple X chromosome changes. Evidence is presented to show that the maternally inherited X chromosome is the chromosome involved in the structural alterations observed. The effect of a tendency of the maternal X chromosome to break at specific sites on the development of the Turner phenotype and abnormal karyology is discussed.     

Restriction fragment length polymorphism of human mitochondrial DNA in a sample population from Apulia (Southern Italy)

Restriction fragment length polymorphism (RFLP) of human mitochondrial DNA was analysed in a sample of 87 subjects from Apulia (South Italy) by the restriction enzymes Hpa I, Bam HI, Hae II, Msp I, Ava II, and Hinc II using total blood cell DNA probed by human mtDNA from placenta. Five BamHI morphs were observed, two of which are new ( Bam HI-4 and -5), as well as one new Ava II morph ( Ava II-28). The association Bam HI-4/ Ava II-28 enables us to demonstrate for the first time two polymorphic Bam HI sites present together in the same mtDNA molecule. In agreement with historical data the Apulian sample has been shown to be the most heterogeneous Italian population so far tested.     

Effect of desympathization on repair of the resected thyroid gland in adult rats

Department of Biology, Izhevsk Medical Institute. (Presented by Academician of the Academy of Medical Sciences of the USSR D. S. Sarkisov.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 107, No. 3, pp. 353–356, March, 1989.     

Antibacterial activities of the leaf extracts of Eugenia uniflora Linn. (Synonym Stenocalyx michelli Linn.) Myrtaceae

The aqueous, organic, and volatile oil extracts of leaves of Eugenia uniflora Linn. Family Myrtaceae were investigated for antibacterial properties using agar dilution techniques. The aqueous extract was the most active against the organisms compared to the organic and volatile oil extracts. The extracts were found to inhibit Gram positive Staphylococcus aureus and Bacillus subtilis and Gram negative Escherichia coli and Shigella dysentcriae. Pseudomonas aeruginosa, Klebsiella pneumoniac, and Salmonella typhi were not inhibited.     

Effect of bacterial purified antigenic fractions on natural defence mechanisms

The in vitro ability of bacterial purified antigenic fractions to interfere with the immune system has been investigated on human mononuclear cells from peripheral blood. Exposure of purified monocytes to the drug at concentrations from 1 to 1000 micrograms/ml, for different periods from 0 to 18 h, significantly increased cell-mediated cytotoxicity against TU5 target cells. Moreover, monocytes exposed for 1 to 18 h to drug concentrations from 0.1 to 1000 micrograms/ml released significant amounts of tumor necrosis factor alpha in a dose-dependent manner in the culture supernatants. The drug was also tested on natural killer (NK) cell activity; mononuclear cells exposed to antigenic fractions for different periods showed a significant increase of NK cytotoxic activity against K562 target cells after 3 and 6, but not 0 and 18 h. Active concentrations were from 1 to 100 micrograms/ml, higher and lower doses being ineffective. Bacterial purified antigenic fractions thus have some ability to interfere in vitro with mechanisms of cytolysis mediated by cells and soluble factors.     

Fricke supraorbital flap for reconstruction of total lower eyelid defects

Summary Split or full thickness eyelid defects resulting from tumor destruction or surgical excision present a dilemma for plastic and reconstructive surgeons. Full thickness eyelid replacement requires composite grafting of the skin, together with tarsal support of its substitute and mucosa. The flap described by Fricke in 1829 was used for reconstruction of anterior lamella in six lower eyelid defects. In three of our cases chondromucosal grafts taken from nasal septum were utilized for posterior lamella repair. The results have been satisfactory from a functional and cosmetic standpoint.     

Sodium reabsorption by the Henle loop in humans

In a previous study, we described a new method [3] to measure Na reabsorption by each segment of the human nephron independently. Reabsorption was expressed as equivalent volumes of solute-free water (CH2O) generated by the loop of Henle (CH2O-HL) and by the distal tubule (CH2O-DT), and dissipated by back diffusion (BD) across collecting ducts (CH2O-BD). These data were obtained during maximal water diuresis (MWD). The present study was undertaken to calculate CH2O-HL by experiments performed during maximal antidiuresis (MA). For this purpose, a new theoretical approach was devised, described by algebraic equations which allowed calculations of segmental transport during MA alone, where only CH2O-HL could be calculated independently. The study was performed on 14 normal volunteers who were studied twice by clearance measurements, firstly during MWD and again during MA. In each experiment, clearance periods were performed during baseline conditions and during the administration of furosemide (0.7 mg/kg bolus injection followed by 0.06 mg/kg/min maintenance infusion). From the values measured during either condition, segmental reabsorption was calculated. During MWD, CH2O-HL averaged 19.4 + 10.4, during MA 20.4 + 8.0 ml/min/GFR X 100; p greater than 0.05. The paired measurements were significantly correlated (r = 0.80; p less than 0.01). These data demonstrate that CH2O-HL obtained with the original theory is a reproducible result that can be confirmed with independent measurements obtained during different experimental conditions. Thus, measurements of segmental Na transport in the human nephron are feasible and can contribute important informations on disease states.     

Use of a restricted protein diet in the treatment of behaviour disorderin a severely mentally retarded adult female phenylketonuric patient

ABSTRACT. A 54-year-old profoundly mentally retarded female patient with phenylketonuria and a severe behaviour problem was treated with a restricted protein and high energy diet. After several weeks of dietary intervention the patient's behaviour improved significantly.     

Interaction between endogenous opioids, cholinergic and adrenergic mechanisms during vagally-induced gastrin release in rats

Endogenous opioids are present in neurons of the vagus and the intrinsic nervous system and they are colocalized with gastrin in antral G-cells. This raises the possibility that endogenous opioids modulate gastrin release. Stimulation of both cervical vagi (10V, 5Hz, 5ms) elicited an increase of arterial plasma gastrin levels at intragastric pH7 or pH2. The response at pH2 was 30% of that at luminal pH7. Atropine reduced vagally stimulated gastrin levels substantially. At luminal pH2 the small residual noncholinergic response was mediated neither by adrenergic mechanisms nor by endogenous opioids. At luminal pH 7 adrenergic blockade with phentolamine and propranolol reduced vagally stimulated gastrin by 60%. In the presence of atropine adrenergic blockade elicited only a small inhibitory effect suggesting that vagal activation of adrenergic mechanisms depends on atropine-sensitive cholinergic pathways. Blockade of opiate receptors by naloxone had no effect on vagal gastrin release, however, the noncholinergic gastrin response was reduced significantly by naloxone, suggesting that cholinergic mechanisms normally restrain activation of endogenous opioids during vagal stimulation. Naloxone had no effect on the noncholinergic, nonadrenergic stimulation of gastrin levels. These data suggest that endogenous opioids can contribute to vagal gastrin release provided the cholinergic restraint is blocked and adrenergic mechanisms stimulate endogenous opioids. In conclusion a major role of endogenous opioids in the regulation of vagal gastrin release can not be detected.