Results 31 to 40 of about 16,672 (213)

Epidemiology and health related quality of life in hypoparathyroidism in Norway. [PDF]

, 2016
OBJECTIVE: The epidemiology of hypoparathyroidism (HP) is largely unknown. We aimed to determine prevalence, etiologies, health related quality of life (HRQoL) and treatment pattern of HP.
Astor, M.C., Debowska, A., Eriksen, E.F., Evang, J.A., Fossum, C., Fougner, K.J., Holte, S.E., Husebye, E.S., Kemp, E.H., Lima, K., Løvås, K., Moe, R.B., Myhre, A.G., Nedrebø, B.G., Svartberg, J.   +14 more
core   +4 more sources

Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult

European Journal of Case Reports in Internal Medicine, 2021
22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism. However, clinical findings vary greatly. We present the case of a 56-year-old man, with a history of cleft palate and schizophrenia,
Melissa Elise van der Meijs, Dave Henri Schweitzer, Henk Boom   +2 more
doaj   +1 more source

Genetic drivers of kidney defects in the digeorge syndrome [PDF]

, 2017
BACKGROUND The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney.
Allegri, L., Anderson, B.R., Arapovic, A., Barasch, J.M., Barton, D., Bodria, M., Capone, V.P., Carpentier, W., Carrea, A., Casolari, E., Crowley, T.B., Cusi, D., D'Agati, V., Darlow, J.M., Deng, R., Drozdz, D., Drummond, I.A., Fasel, D.A., Flogelova, H., Furth, S.L., Gaillard, D., Gesualdo, L., Gharavi, A.G., Ghiggeri, G.M., Gillies, C.E., Gucev, Z., Hakonarson, H., Heidet, L., Hildebrandt, F., Honig, B., Imamoto, A., Izzi, C., Jeanpierre, C., Katsanis, N., Kiryluk, K., Krzemien, G., Kunac, N., Latos-Bielenska, A., Lifton, R.P., Liu, Q., Liu, Y.P., Lopez-Rivera, E., Lozanovski, V.J., Maiorana, M., Makar, G.S., Martino, J., Materna-Kiryluk, A., McDonald-McGinn, D.M., Miklaszewska, M., Mitrotti, A., Mizerska-Wasiak, M., Morrow, B.E., Otto, E.A., Papaioannou, V.E., Petrey, D.S., Puri, P., Racedo, S.E., Salomon, R., Samii, A., Sampson, M.G., Sanna-Cherchi, S, Saraga, M., Saraga-Babic, M., Scolari, F., Sikora, P., Steers, N.J., Szczepanska, M., Szmigielska, A., Tasic, V., Tkaczyk, M., Van Wijk, J.A.E., Vega-Warner, V., Verbitsky, M., Vivante, A., Vukojevic, K., Warady, B.A., Werth, M., Westland, R., Wong, C.S., Yan, Z., Zackai, E.H., Zaniew, M.   +81 more
core   +2 more sources

Oral and Clinical Manifestations of DiGeorge Syndrome with Primary Hypoparathyroidism: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
DiGeorge syndrome is an autosomal dominant inherited disorder caused by a deletion of chromosome 22q11.2. It is a multisystem condition, classically presenting with a triad of congenital heart defects, hypoplasia of the parathyroid glands and thymus,
Nayantara Menon, Bb Shahala, Mp Uthkal, Shahana P Sulaiman, Amjad Ali   +4 more
doaj   +1 more source

Autoimmune hemolytic anemia associated with vitamin B12 deficiency and viral illness in DiGeorge syndrome. Case report and literature review

Clinical Case Reports, 2021
Vitamin B12 plays a crucial role in cell maturation and differentiation. Its deficiency can lead to cytopenias and even hemolysis. We suggest regular monitoring and maintenance of Vit B12 levels in DiGeorge syndrome patients to prevent such triggers.
Zohaib Yousaf, Fateen Ata, Phool Iqbal, Bassam Muthanna, Adeel Ahmad Khan, Jaweria Akram, Anand Kartha   +6 more
doaj   +1 more source

Risk Factors for Extubation Failure following Neonatal Cardiac Surgery [PDF]

, 2015
Objective: Extubation failure after neonatal cardiac surgery has been associated with considerable postoperative morbidity, although data identifying risk factors for its occurrence are sparse. We aimed to determine risk factors for extubation failure in
Delius, Ralph E., Gupta, Pooja, Laudato, Nina, Mastropietro, Christopher W., Walters, Henry L. III   +4 more
core   +1 more source

A First Case Report of DiGeorge Syndrome from Ethiopia Highlights Challenges in Identifying and Treating Children with Primary T-Cell Deficiencies in Low Resource Settings

Case Reports in Immunology, 2020
Background. Cellular primary immunodeficiencies are rarely reported from Africa. DiGeorge syndrome is a commonly recognized form of a congenital T-cell deficiency.
Tinsae Alemayehu, Solomie Jebessa Deribessa   +1 more
doaj   +1 more source

Unique phenotype in a patient with CHARGE syndrome [PDF]

, 2011
CHARGE is a phenotypically heterogeneous autosomal dominant disorder recognized as a cohesive syndrome since the identification of CHD7 as a genetic etiology.
Shobhit Jain, Hyung-Goo Kim, Felicitas Lacbawan, Irene Meliciani, Wolfgang Wenzel, Ingo Kurth, Josefina Sharma, Morris Schoeneman, Svetlana Ten, Lawrence C Layman, Elka Jacobson-Dickman   +10 more
core   +1 more source

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland [PDF]

, 2010
Background The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia.
Anna Wozniak, Danuta Wolnik-Brzozowska, Marzena Wisniewska, Renata Glazar, Anna Materna-Kiryluk, Tomasz Moszura, Magdalena Badura-Stronka, Joanna Skolozdrzy, Maciej R Krawczynski, Joanna Zeyland, Waldemar Bobkowski, Ryszard Slomski, Anna Latos-Bielenska, Aldona Siwinska   +13 more
core   +1 more source

Unbalanced Immune System: Immunodeficiencies and Autoimmunity [PDF]

, 2016
Increased risk of developing autoimmune manifestations has been identified in different primary immunodeficiencies (PIDs). In such conditions, autoimmunity and immune deficiency represent intertwined phenomena that reflect inadequate immune function ...
CAPALBO, DONATELLA, CIRILLO, EMILIA, D'ASSANTE, ROBERTA, De Cataldis, M, Di Giacomo, C, GALLO, VERA, Gaudino, G, GIARDINO, GIULIANA, Lorello, P, PALAMARO, LOREDANA, PIGNATA, CLAUDIO, PRENCIPE, MARIA ROSARIA, ROMANO, ROBERTA   +12 more
core   +2 more sources