Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence of cases presenting with PHPT as first manifestation among MEN 2A index cases and to characterize the former cases. An international retrospective multicenter study of 1085 MEN 2A index cases. Experts from MEN 2 centers all over the world were invited to participate. A total of 19 centers in 17 different countries provided registry data of index cases followed from 1974 to 2017. Ten cases presented with PHPT as their first manifestation of MEN 2A, yielding a prevalence of 0.9% (95% CI: 0.4-1.6). 9/10 cases were diagnosed with medullary thyroid carcinoma (MTC) in relation to parathyroid surgery and 1/10 was diagnosed 15 years after parathyroid surgery. 7/9 cases with full TNM data were node-positive at MTC diagnosis. Our data suggest that the prevalence of MEN 2A index cases that present with PHPT as their first manifestation is very low. The majority of index cases presenting with PHPT as first manifestation have synchronous MTC and are often node-positive. Thus, our observations suggest that not performing RET mutation analysis in patients with apparently sporadic PHPT would result in an extremely low false-negative rate, if no other MEN 2A component, specifically MTC, are found during work-up or resection of PHPT.S D received a national grant (AZV 16-32665A).S

The nurse\u27s role in communicating with a patient with dysarthria

Uvod: Dizartrija in afazija sta najpogostejši motnji sporazumevanja. Zajema lahko težave v eni komponenti ali kombinaciji več komponent govornega mehanizma, kot so: dihanje, fonacija, resonanca, artikulacija in prozodija. Govor lahko prizadane bolezen ali pa poškodba možganov, možganska kap. Žal dizartrija ne prinese le motoričnih težav, vendar imajo bolniki tudi težave s socializacijo ter psihološke motnje. Dizartrija se pojavi pri 42% bolnikih po možganski kapi, torej je ena izmed najpogostejših motenj govora. Dizartrija se pogosto pojavi pri bolnikih z multiplo sklerozo, s parkinsonovo boleznijo, po možganski kapi. Poznamo več vrst dizartrij: spastična, ataksična, hipo in hiperkinetična, flacidna in mešana. Namen: Namen diplomskega dela je bolje spoznati dizartrijo ter pripomočke s katerimi si medicinske sestre lahko lajšajo komunikacijo. Metode dela: Uporabljena bo deskriptivna metoda dela. Narejen bo pregled slovenske in angleške literature. Iskanje literature bo potekalo od začetka aprila do konca septembra 2021. Uporabljena bo deskriptivna metoda dela. Vire bomo iskali po različnih bazah kot so: Mediline, CINAHL, Science direct, Cobib, dLib, iskalniku PubMed in Google Scholar, knjžničnem portalu Cochrane library. Iskanje literature bo potekalo od začetka aprila do konca junija 2021.V pregled je bilo vključenih in analiziranih 11 člankov, ki so ustrezali vključitvenim in izključitvenim kriterijem. Rezultati: Rezultati so pokazali, da je na trgu veliko pripomočkov ter, da je izbira pravega odvisna od posameznika. Poznamo visoko, malo ali nič tehnološko podporno in nadomestno komunikacijo. Medicinske sestre si lahko komunikacijo z osebo, ki ima dizartrijo olajša tako, da si vzame čas za pacienta ter pozna njegove komunikacijske značilnosti tako, da se udeleži različnih predavanj oz. seminarjev. Razprava in zaključek: Dizartrija je pogosta motnja govora in zaradi tega potrebuje veliko pozornosti. Skozi diplomsko delo smo ugotovili, da obstaja veliko pripomočkov in da se tehnologija razvija, saj je vedno več visokotehnološke podporne in nadomestne komunikacije. Medicinske sestre pa si komunikacijo lahko olašajo s poznavanjem pripomočkov, motenj govora in značilnostmi bolnika z dizartrijo.Introduction: Dysarthria and aphasia are the most common communication disorders. It covers the problems in one component or a combination of several components of the speech mechanism, such as: breathing, phonation, resonance, articulation and prosody Speech can be affected by disease, brain damage or stroke. Unfortunately, dysarthria not only brings motor problems, but patients also have problems with socialization and psychological disorders. Dysarthria occurs in 42% of patients after a stroke, so it is one of the most common speech disorders. Dysarthria often occurs in patients with multiple sclerosis, with Parkinson\u27s disease and after a stroke. There are several types of dysarthria: spastic, ataxic, hypo and hyperkinetic, flaccid and mixed. Purpose: The purpose of the diploma work is to better understand dysarthria and communication aids with whom nurses can help themselfes to improve communication with a pacient. Methods: A descriptive method of work will be used. A review of Slovenian and English literature will be made. We will search for resources in various databases such as: Mediline, CINAHL, Science direct, Cobib, dLib, PubMed search engine and Google Scholar, Cochrane library library portal. The literature search will take place from the beginning of April to the end of June 2021. The review includes 11 articles that we analyzed, after going throught inculsion and exclusion criteria. Results: The results showed that there are many communication aids on the market and that the choice of the right one depends on the individual. We know high, little or no alternative and augmentative communication aids. Nurses can communicate with a pacient who has dysarthria by taking time for the patient and knowing his communication characteristics by attending various lectures or seminars. Discussion and conclusion: Dysarthria is a common speech disorder and therefore requires a lot of attention. Through the review, we found that there are many communication aids and that technology is evolving as there is more and more high-tech supportivecommunication aids. Nurses can improve communication by knowing the aids, speech disorders, and characteristics of patients with dysarthria

Expression of Markers of Endometrial Receptivity in Obese Infertile PCOS Women before and after the Weight Loss Program—A Preliminary Study

Obesity is an increasing worldwide problem, and it is common in women with polycystic ovaries syndrome (PCOS). It is well known that women with PCOS have lower chances of spontaneous conception as well as lower success with IVF procedures. The mechanisms by which obesity causes lower fertility are not yet fully understood. The aim of the present study was to determine the effect of a lifestyle intervention weight loss program on the expression of the endometrial genes during the window of implantation (WOI). For this purpose, 15 infertile women with obesity and PCOS were included in the study. Endometrial samples were taken during the WOI before and at the end of the program, and RNASeq analysis was performed. There were no significantly differentially expressed genes before and after the weight loss program. We then compared the results of our study with previously published studies on markers of endometrial receptivity. The biomarker genes that were found to be down-regulated during the WOI in previous studies were more down-regulated after the weight loss program in the present study. Furthermore, 25% of the women who achieved the desired 5% or more weight reduction conceived spontaneously. Our study shows that weight loss might positively impact endometrial receptivity. which may lead towards the improved fertility of obese women with PCOS

Expression of Markers of Endometrial Receptivity in Obese Infertile PCOS Women before and after the Weight Loss Program—A Preliminary Study

Obesity is an increasing worldwide problem, and it is common in women with polycystic ovaries syndrome (PCOS). It is well known that women with PCOS have lower chances of spontaneous conception as well as lower success with IVF procedures. The mechanisms by which obesity causes lower fertility are not yet fully understood. The aim of the present study was to determine the effect of a lifestyle intervention weight loss program on the expression of the endometrial genes during the window of implantation (WOI). For this purpose, 15 infertile women with obesity and PCOS were included in the study. Endometrial samples were taken during the WOI before and at the end of the program, and RNASeq analysis was performed. There were no significantly differentially expressed genes before and after the weight loss program. We then compared the results of our study with previously published studies on markers of endometrial receptivity. The biomarker genes that were found to be down-regulated during the WOI in previous studies were more down-regulated after the weight loss program in the present study. Furthermore, 25% of the women who achieved the desired 5% or more weight reduction conceived spontaneously. Our study shows that weight loss might positively impact endometrial receptivity. which may lead towards the improved fertility of obese women with PCOS