Results 101 to 110 of about 1,064,760 (292)

A family case of fertile human 45,X,psu dic(15;Y) males [PDF]

, 2006
We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
Andersson M, Baumstark A, Buonadonna AL, C.S. Nagarajappa, Callen DF, Charchar FJ, Fracarro M, Freije D, Gal A, Haaf T, Hsu TC, I. Hansmann, I. Palaniappan, Koiffmann CP, Ma NS, Maserati E, Matthey R, N. Chandra, P.M. Gopinath, R. Wimmer, Ried T, Schempp W, Schiebel K, Schmid M, Siffroi JP, Subrt I, Tiemeier DC, W. Schempp, Weber B, White LM   +29 more
core   +1 more source

A Comparative Study of Cerebral Oxygenation During Exercise in Hemodialysis and Peritoneal Dialysis Patients

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Cognitive impairment and exercise intolerance are common in dialysis patients. Cerebral perfusion and oxygenation play a major role in both cognitive function and exercise execution; HD session per se aggravates cerebral ischemia in this population. This study aimed to compare cerebral oxygenation and perfusion at rest and in mild
Marieta P. Theodorakopoulou, Konstantina Dipla, Danai Faitatzidou, Fotini Iatridi, Areti Georgiou, Artemios Karagiannidis, Erasmia Sampani, Chrysostomos Dimitriadis, Aggelos Koutlas, Andreas Zafeiridis, Pantelis Sarafidis   +10 more
wiley   +1 more source

Differences between Patients with Sporadic and Familial Pheochromocytoma—Is It Possible to Avoid Genetic Testing in Certain Patients?

Biomedicines
Background: Pheochromocytoma (PHEO) is a rare neuroendocrine tumour with a strong genetic link, which therefore may modify its clinical behaviour and prognosis.
María Consuelo Muñoz, Beatriz Febrero, Miriam Abellán, Antonio Miguel Hernández, José Manuel Rodríguez   +4 more
doaj   +1 more source

Familial Transmission of emm12 Group A Streptococcus

Emerging Infectious Diseases, 2017
Incidence and severity of invasive group A Streptococcus infections are of increasing concern in France and worldwide. The risk for secondary infection of close contacts is known but rarely described.
Claire Duployez, Anne Vachée, Olivier Robineau, François Giraud, Anthony Deny, Eric Senneville, Frédéric Wallet, Caroline Loïez   +7 more
doaj   +1 more source

Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy. [PDF]

, 2014
Contraction in the mammalian heart is controlled by the intracellular Ca2+ concentration as it is in all striated muscle, but the heart has an additional signalling system that comes into play to increase heart rate and cardiac output during exercise or ...
Marston, SB, Messer, AE
core   +2 more sources

Intraoperative Collection of Ascitic Fluid With Intra‐ or Postoperative Reinfusion in Ovarian Cancer: Safety and Feasibility of a Roller Pumping Method

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Patients with ovarian cancer often present with massive ascites, leading to significant protein loss during surgical procedures. Although cell‐free concentrated ascites reinfusion therapy (CART) is used in palliative settings to mitigate protein loss, its application in intraoperative settings remains unexplored.
Yutaka Yoneoka, Tsukuru Amano, Akimasa Takahashi, Mari Deguchi, Hiroyuki Yamanaka, Yuji Tanaka, Shunichiro Tsuji, Takashi Murakami   +7 more
wiley   +1 more source

Bullous variant of familial biphasic lichen amyloidosis: A unique combination of three rare presentations

Indian Journal of Dermatology, 2015
A 55-year-old man presented with multiple, itchy papules and macules on the trunk and extremities. Histopathologic examination of biopsy specimens taken from three different lesions showed a subepidermal blister with amyloid deposits in the dermal ...
Vijayalaxmi Veerabasappa Suranagi, B S Siddramappa, Hema Basappa Bannur, Prakash V Patil, Reshma S Davangeri   +4 more
doaj   +1 more source

LDLR-Gene therapy for familial hypercholesterolaemia: Problems, progress, and perspectives [PDF]

, 2010
Coronary artery diseases (CAD) inflict a heavy economical and social burden on most populations and contribute significantly to their morbidity and mortality rates.
Al-Allaf, FA, Coutelle, C, David, A, Harbottle, R, Themis, M, Waddington, SN   +5 more
core   +3 more sources

Revealing the structure of land plant photosystem II: the journey from negative‐stain EM to cryo‐EM

FEBS Letters, EarlyView.
Advances in cryo‐EM have revealed the detailed structure of Photosystem II, a key protein complex driving photosynthesis. This review traces the journey from early low‐resolution images to high‐resolution models, highlighting how these discoveries deepen our understanding of light harvesting and energy conversion in plants.
Roman Kouřil
wiley   +1 more source

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source