Results 31 to 40 of about 70,756 (309)

Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]

, 2019
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria, Domínguez González, Cristina, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge M., Hernández Laín, Aurelio, Hernández Voth, Ana R., Paradas, Carmen, Rivas, Eloy, Sayas Catalán, Javier   +9 more
core   +1 more source

A ‘never miss’ diagnosis: Ptosis secondary to metastatic breast cancer diagnosed as involutional ptosis and a review of the literature

SAGE Open Medical Case Reports, 2021
We present a case of ptosis secondary to metastatic lobular carcinoma of the breast which was initially diagnosed as involutional ptosis. A 67-year-old woman previously diagnosed with lobular carcinoma of the breast presented to our clinic with mild ...
Mustafa Safi, Katayun Fethat, Rona Z Silkiss   +2 more
doaj   +1 more source

Add-On Telitacicept Significantly Improves Outcome of Patients With Refractory Ocular Myasthenia Gravis a Real-World Case Series. [PDF]

Brain Behav
6/7 patients achieved CMI by the third follow‐up, sustained to the fourth follow‐up, and 4/6 reached MSE by the fifth follow‐up. First real‐world evidence of adding telitacicept efficacy in refractory ocular MG symptoms Abstract Introduction Refractory ocular myasthenia gravis (MG) represents a significant therapeutic challenge, as conventional ...
Lin J, Li Y, Gui M, Bu B, Li Z.
europepmc   +2 more sources

Preclinical discovery of duloxetine for the treatment of depression [PDF]

, 2012
Introduction: Affective disorders, including major depressive disorder (MDD), are among the most severely disabling mental disorders, and in many cases areIntroduction: Affective disorders, including major depressive disorder (MDD), are among the most ...
Berrocoso Domínguez, Esther María, Elorza, Julián, Micó Segura, Juan Antonio, Perez-Caballero, Laura, Torres-Sanchez, Sonia   +4 more
core   +2 more sources

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil [PDF]

, 1989
Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. Patients and methods Twenty-five CMS patients from 18 independent families were included in the study.
Abicht, A., Gervini, B., Guergueltcheva, V., Hagen, M. von der, Huebner, A., Kay, C. K., Lochmueller, H., Lorenzoni, P. J., Mihaylova, V., Mueller, J. S., Scola, R. H., Stucka, R., Werneck, L. C.   +12 more
core   +2 more sources

Tratamiento quirúrgico de ptosis palpebral miogénica adquirida [PDF]

, 2005
Objective: To report the surgical outcome of aponeurosis surgery in patients with acquired myogenic eyelid ptosis and describe surgical guidelines for their correction.
Becerra, E.M. (E. M.), Bianciotto, C. (C.), Blanco, G. (G.), Muiños, Y. (Y.)   +3 more
core   +1 more source

INVOLUTIONAL PTOSIS [PDF]

Australian and New Zealand Journal of Ophthalmology, 1986
AbstractInvolutional ptosis was corrected by either an anterior or posterior approach in 105 eyelids The posterior approach was preferred unless there was a specific indication for the anterior approach which included excess skin and bulky eyelids At operation approximately 10% of cases were found to have fatty degenerative changes in the anterior part
openaire   +2 more sources

Comparison of Triangular Technique, Double Triangular Technique and Pentagonal Technique of Frontalis Sling Surgery in Ptosis Correction

Delhi Journal of Ophthalmology, 2012
Purpose: To compare Triangular technique, Double Triangular technique and Pentagonal technique of Frontalis Sling surgery in ptosis correction in congenital ptosis patients. Methods: Cases with bilateral congenital simple ptosis with poor levator action,
Kumar Vivek, Reetika, Vinay Kumar, Anasua Ganguly, Nilesh Mohan, Mandeep S Bajaj, Supriyo Ghose   +6 more
doaj   +1 more source

Turner syndrome and associated problems in turkish children: A multicenter study [PDF]

, 2015
Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A., Abalı, S., Adal, E., Akın, L., Akıncı, A., Akyürek, N., Andıran, N., Anık, A., Atabek, M.E., Ataş, A., Aydın, B.K., Açıkel, C., Baş, F., Baş, S., Baş, V.N., Bereket, A., Binay, Ç., Bolu, S., Bondy, C., Bulan, K., Büyükinan, M., Can, H.D., Cinaz, P., Darcan, Ş., Darendeliler, F., Demir, K., Demirbilek, H., Demirel, F., Doğan, D., Doğan, M., Döneray, H., Dündar, B., Eklioğlu, B.S., Emeksiz, H.C., Ercan, O., Eren, E., Ersoy, B., Evliyaoğlu, O., Fidancı, K., Gökşen, D., Gül, D., Gürbüz, F., Hatun, Ş., Kaba, S., Kara, C., Karagüzel, G., Keskin, M., Kızılay, D., Orbak, Z., Pirgon, Ö., Polat, A., Poyrazoğlu, Ş., Sarı, E., Sağlam, H., Tarım, Ö., Tepe, D., Topaloğlu, A.K., Turan, S., Yeşilkaya, E., Yüksel, B., Çakır, E.D., Çatlı, G., Çelik, N., Çizmecioğlu, F., Ökten, A., Önal, H., Özbek, M.N., Özen, S., Özgen, T., Özhan, Bayram, Özkan, B., Ünüvar, T., Şen, Y., Şimşek, E.   +73 more
core   +1 more source

Gland Suspension Improves Breast Augmentation Outcomes

Plastic and Reconstructive Surgery, Global Open, 2018
Background:. While dual plane breast augmentation successfully addresses low ptosis grades, concomitant hypomastia and greater ptosis often requires combined immediate or staged mastopexy with extended incisions beyond those required for breast ...
Katarina Andjelkov, MD, PhD, Nina Sijan-Miskovic, MD, Milan Colic, MD, Miodrag Colic, MD, PhD, Anja Lalic, MD, Ramon Llull, MD, PhD   +5 more
doaj   +1 more source