The genotype and phenotype characteristics of Hungarian patients with RET proto-oncogene mutations operated on for hereditary medullary thyroid cancer (MTC) were studied. The genetic screening was performed in two centers and 40 patients with hereditary MTC or C-cell hyperplasia (CCH) from 18 unrelated families were analyzed. One patient having a mutation in exon 16 (Met918Thr) presented with the MEN2B phenotype, six patients from two families had hereditary MTC without pheochromocytoma (pheo) and primary hyperparathyroidism (PHPT), whereas 33 patients from 15 families showed the MEN2A phenotype. Two different mutations were identified in exon 10 (Cys609Tyr and Cys609Ser), five different mutations were present in exon 11 (Cys634Phe, Cys634Arg, Cys634Tyr, Cys634Trp and Cys634Ser), and two different mutations were localized in exon 14 (Val804Met and Val804Leu). Mutations in exon 10 were associated with hereditary MTC (Cys609Tyr) or with MEN2A syndrome (Cys609Ser). Mutations in exon 11 were always associated with the MEN2A phenotype. PHPT was present in one patient with mutation in exon 14 (Val804Met), whereas all other patients affected with mutations in exon 14 had hereditary MTC without PHPT and/or pheos.
These results confirm previous reports on the high prevalence of novel MEN1 gene mutations among patients with MEN1, and support the questionable efficacy of mutation screening in patients with sporadic MEN1-related states.
Összefoglaló. Kilenc magyarországi orvostársaság közös ajánlást alakított ki a D-vitamin javasolt normáltartományával, a D-vitamin-pótlás adagjával és az adagolás módjával kapcsolatban. Összefoglalták azokat a klinikai állapotokat, betegségeket, amelyek kialakulása összefüggésben lehet a D-vitamin-hiánnyal. Magyarországon a D-vitamin-hiány – főleg a tél végére – rendkívül gyakori. A javasolt normáltartomány alsó határa 75 nmol/l, annak ellenére, hogy a hiány klinikai jelentősége főleg 50 nmol/l alatti értékeknél nyilvánvaló, ám mivel a D-vitamin pótlása a javasolt dózisban biztonságos, mindenkinél érdemes csökkenteni a D-vitamin-hiánnyal kapcsolatos egészségügyi kockázatot. A D-vitamin-pótlás célja a hiány megszüntetése. A javasolt normáltartomány 75–125 nmol/l, az ezt meghaladó tartományban a D-vitamin adásának nincs további egyértelmű előnye. A normáltartomány fenntartásához felnőttekben napi 2000 NE bevitele javasolt az UV-B sugárzástól mentes időszakban. Gyermekeknek is javasolt a D-vitamin pótlása azokban az időszakokban és állapotokban, mint a felnőtteknek, de az adag korfüggő módon változik. D-vitamin-pótlásra D3-vitamin adása javasolt. Felnőttekben a D3-vitamin-pótlás napi, heti és havi gyakoriságú adagolással is egyformán hatásos és biztonságos. Súlyos hiányban javasolt telítő adagot alkalmazni, majd ezt követően fenntartó adagolással kell folytatni a pótlást. A D-vitamin-hiány jól ismert csontrendszeri, immunológiai és onkológiai hatásai mellett egyre több adat támasztja alá előnytelen nőgyógyászati és szülészeti hatásait is. A legerősebb érv a D-vitamin-hiány megszüntetése és a szükséges pótlás alkalmazása mellett a halálozási kockázat D-vitamin-hiányban észlelt növekedése. A konszenzus elkészítésének folyamata megfelelt a Delfi-irányelveknek. Orv Hetil. 2022; 163(15): 575–584. Summary. Nine Hungarian medical societies have developed a consensus recommendation on the preferred normal range of vitamin D, the dose of vitamin D supplementation and the method of administration. They summarized the clinical conditions and diseases the development of which may be associated with vitamin D deficiency (VDD). VDD is extremely common in Hungary, especially in late winter. The lower limit of the recommended normal range is 75 nmol/l, although the clinical significance of deficiency is evident mainly at values below 50 nmol/l, but since vitamin D supplementation at the recommended dose is safe, it is worthwhile for everyone to reduce the health risk associated with VDD. The aim of vitamin D supplementation is to prevent deficiency. The recommended normal range is 75–125 nmol/l, above which there is no clear benefit of vitamin D supplementation. To maintain the normal range, a daily intake of 2000 IU in adults is recommended during the UV-B radiation-free period. Vitamin D supplementation is also recommended for children during the same periods and conditions as for adults, but the dose varies with age. In adults, vitamin D3 supplementation at daily, weekly and monthly intervals is equally effective and safe. In severe deficiency, a loading dose is recommended, followed by maintenance supplementation. In addition to the well-known skeletal, immunological and oncological effects of VDD, more and more data support unfavorable gynecological and obstetric effects. The process of building the consensus has met the requirements of the latest Delphi criteria. Orv Hetil. 2022; 163(15): 575–584.
Abstract. The effects of desglycinamide9-arginine8-vasopressin (DG-AVP) on memory processes have been studied in patients with central diabetes insipidus (DI) and in non-diabetic control patients. Acute im injection of DG-AVP improved some aspects of short-term memory. Subchronic intranasal administration of DG-AVP facilitated short-term memory more consistently and in addition improved long-term memory. DG-AVP increased the attention, but only in the non-diabetic subjects. The effects of DG-AVP on memory processes persisted after discontinuation of treatment. DG-AVP did not affect the parameters for water and electrolyte metabolism, blood pressure and pulse rate neither in DI nor in the control patients. Thus, the memory effects of DG-AVP are probably mediated by a direct action on the central nervous system.
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