In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome

Autor: Cătălin Vasile Munteanu, Cătălin Marian, Adela Chiriță-Emandi, Maria Puiu, Adrian Pavel Trifa

Publikováno v: BMC Genomic Data, Vol 25, Iss 1, Pp 1-14 (2024)

Abstract Lynch syndrome (LS) is one of the most common hereditary cancer syndrome in human populations, associated with germline variants in MLH1, MSH2/EPCAM, MSH6 and PMS2 genes. The advent of next generation sequencing has proven a significant impa

Externí odkaz: https://doaj.org/article/a6119d78d567491e88e8c7def5420876

Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the AMHR2 Gene and Literature Review

Autor: Luminita Nicoleta Cima, Iustina Grosu, Isabela Magdalena Draghici, Augustina Cornelia Enculescu, Adela Chirita-Emandi, Nicoleta Andreescu, Maria Puiu, Carmen Gabriela Barbu, Simona Fica

Publikováno v: Diagnostics, Vol 14, Iss 23, p 2621 (2024)

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives

Externí odkaz: https://doaj.org/article/54ae226d45da4a8ea808033dc8d05c92

General and abdominal adiposity and hypertension in eight world regions: a pooled analysis of 837 population-based studies with 7·5 million participants

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Agdeppa, Imelda A, Aghazadeh-Attari, Javad, Agyemang, Charles, Ahmad, Mohamad Hasnan, Ahmadi, Ali, Ahmadi, Naser, Ahmadi, Nastaran, Ahmed, Soheir H, Ahrens, Wolfgang, Aitmurzaeva, Gulmira, Ajlouni, Kamel, Al-Hazzaa, Hazzaa M, Al-Hinai, Halima, Al-Lawati, Jawad A, Al-Raddadi, Rajaa, Al Asfoor, Deena, Al Hourani, Huda M, Alarouj, Monira, AlBuhairan, Fadia, AlDhukair, Shahla, Ali, Mohamed M, Alieva, Anna V, Alkandari, Abdullah, Alkhatib, Buthaina M, Aly, Eman, Amarapurkar, Deepak N, Amiano Etxezarreta, Pilar, Amougou, Norbert, Andersen, Lars Bo, Anderssen, Sigmund A, Androutsos, Odysseas, Anjana, Ranjit Mohan, Ansari-Moghaddam, Alireza, Anufrieva, Elena, Aounallah-Skhiri, Hajer, Aris, Tahir, Arku, Raphael E, Arlappa, Nimmathota, Aryal, Krishna K, Assah, Felix K, Assembekov, Batyrbek, Assunção, Maria Cecília F, Auvinen, Juha, Avdičová, Mária, Azad, Kishwar, Azevedo, Ana, Azimi-Nezhad, Mohsen, Azizi, Fereidoun, Bacopoulou, Flora, Bahijri, Suhad, Bajramovic, Izet, Balakrishna, Nagalla, Bamoshmoosh, Mohamed, Banach, Maciej, Bandosz, Piotr, Banegas, José R, Baran, Rafał, Barbagallo, Carlo M, Barbosa Filho, Valter, Barceló, Alberto, Baretić, Maja, Barnoya, Joaquin, Barrera, Lena, Barros, Aluisio JD, Barros, Mauro Virgílio Gomes, Basit, Abdul, Bastos, Joao Luiz, Batieha, Anwar M, Batista, Aline P, Batista, Rosangela L, Battakova, Zhamilya, Baur, Louise A, Bayauli, Pascal M, Bel-Serrat, Silvia, Belavendra, Antonisamy, Ben Romdhane, Habiba, Benedek, Theodora, Benedics, Judith, Benet, Mikhail, Benitez Rolandi, Gilda Estela, Benzeval, Michaela, Bere, Elling, Berger, Nicolas, Bergh, Ingunn Holden, Berkinbayev, Salim, Bernabe-Ortiz, Antonio, Bettiol, Heloísa, Beybey, Augustin F, Bezerra, Jorge, Bhagyalaxmi, Aroor, Bhargava, Santosh K, Bika Lele, Elysée Claude, Bikbov, Mukharram M, Bista, Bihungum, Bjelica, Dusko J, Bjerregaard, Peter, Bjertness, Espen, Bjertness, Marius B, Björkelund, Cecilia, Bloch, Katia V, Blokstra, Anneke, Bo, Simona, Bobak, Martin, Boddy, Lynne M, Boehm, 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Publikováno v: In The Lancet 31 August-6 September 2024 404(10455):851-863

The impact of theory of mind, stress and professional experience on empathy in Romanian community nurses—a cross-sectional study

Autor: Lidia Onofrei, Costela Lacrimioara Serban, Adela Chirita-Emandi, Roxana Maria Jeleriu, Maria Puiu

Publikováno v: BMC Nursing, Vol 22, Iss 1, Pp 1-7 (2023)

Abstract Background High empathy levels in health professionals represent an important factor in patient satisfaction and compliance, reducing patient anxiety and pain, enhancing diagnostic and clinical results and strengthening patient empowerment.

Externí odkaz: https://doaj.org/article/f860b68579a14280a448f03250460658

Assessing the Degradation Status of the Imperial Doors of the Ascension Church, Grindu Commune, Romania

Autor: Octavian G. Duliu, Ana Emandi, Maria Marinescu, Otilia Cinteza, Ioana Stanculescu, Liliana Ionescu, Daniela Filimon

Publikováno v: Applied Sciences, Vol 14, Iss 17, p 7565 (2024)

To asses the degradation status of the Imperial Doors of the early 19th century Ascension Church iconostasis, a complex study consisting of micro-optical and scanning electron microscopy followed by energy-dispersive X-ray fluorescence and Fourier tr

Externí odkaz: https://doaj.org/article/8d903e4b913b4ed186f311de52036d29