Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency.

OBJECTIVES: To report an unusual case of MCT8 deficiency (Allan-Herndon-Dudley syndrome), an X-linked condition caused by pathogenic variants in the SLC16A2 gene. Defective transport of thyroid hormones (THs) in this condition leads to severe neurodevelopmental impairment in males, while heterozygous females are usually asymptomatic or have mild TH abnormalities. CASE PRESENTATION: A girl with profound developmental delay, epilepsy, primary amenorrhea, elevated T3, low T4 and free T4 levels was diagnosed with MCT8-deficiency at age 17 years, during evaluation for primary ovarian insufficiency (POI). Cytogenetic analysis demonstrated balanced t(X;16)(q13.2;q12.1) translocation with a breakpoint disrupting SLC16A2. X-chromosome inactivation studies revealed a skewed inactivation of the normal X chromosome. CONCLUSIONS: MCT8-deficiency can manifest clinically and phenotypically in women with SLC16A2 aberrations when nonrandom X inactivation occurs, while lack of X chromosome integrity due to translocation can cause POI.

Chemometric methods for studying the relationships between trace elements in laryngeal cancer and healthy tissues.

A quick and reliable method for the evaluation and classification of two types of tissues is presented. Several chemometric methods were applied to evaluate multivariate data of the tissue samples with respect to the content of trace elements. The content of Pb, Al, Zn, Cd, Cu, Ni and Co was determined in samples of healthy and cancerous tissue obtained from 26 patients. Determination was done at milligram/kilogram level with inductively coupled plasma optical emission spectrometry (ICP-OES) and atomic absorption spectroscopy (AAS) techniques. Contents of trace metals in studied tissues are not normally distributed; however, normal distribution was confirmed for log values. There is a statistically significant difference in the content of Zn, Cd, Cu and Al (p<0.01) and Ni and Co (p<0.05) when healthy tissue is compared to cancerous one. Correlation between contents of trace elements for studied tissues was positive; the highest was found between Zn and Cu. A chemometric methodology seems to be a promising tool for classifications of the tissue samples.

Pharmacological properties of Craviten (M-71).

The preparation Craviten (M-71) produced by POLFA Pharmaceutical Works in Cracow (2S, 2'S) N, N'-dimethyl-N, N'-bis-[1-(3',4',5'-trimethoxybenzoyloxy)-butyl]-2-ethylenediamine dihydrochloride) prevents and abolishes heart rhythm disturbance induced in the rat with BaCl2, CaCl2, adrenaline or aconitine. The doses effectively preventing arrhythmia development were in the range from 0.035 to 0.175 mg/kg. They are many times lower than the doses of lidocaine, hexobendine, procaine amide and D,L-propranolol producing a similar effect. Craviten has a much more favourable therapeutic index than these antiarrhythmic agents. Craviten causes sinus bradycardia and slows down myocardial conduction. It exerts a spasmolytic effect about 70 times as strong as papaverine. It has no influence on the central nervous system, on urine excretion, and after topical application it has no irritating or local anaesthetic effect. The 2R, 2'R isomer of Craviten has a similar profile of pharmacological action but its antiarrhythmic and spasmolytic effects are many times weaker.

Trace elements and immunologic defects. Zinc deficiency and activity of lysosomal acid phosphatase in lymphocyte of mice.

Activity of lysosomal acid phosphatase in peripheral blood lymphocytes of mice fed a low-Zn diet has been studied. The study comprised 40 CBA T6T6 mice, female, aged 8 weeks, with body weight equal to about 18.0 g. The animals were fed during 10 days with a low-Zn diet. This latter diet, as well as the control one contained 0.8 mg% and 11.4 mg% of zinc, respectively; potable water contained 0.06 mg% of this element. Activity of the enzyme was determined semiquantitatively using cytochemical method of Barka and Anderson. Peripheral blood lymphocytes in mice fed a low-Zn diet exhibited statistically significant lowering of the intracellular enzyme activity when compared with control groups. Absolute count of enzyme-positive lymphocytes was also significantly lowered. The Authors discuss the importance of their observations for evaluation of immune reactivity in trace-elements-deficient animals.