Results 61 to 70 of about 34,384 (251)

Bilateral olfactory aplasia: Uncommon cause of congenital anosmia

Clinical Case Reports, 2019
Olfactory aplasia is an uncommon cause of anosmia, and it should be suspected in young patients with lifelong decreased sense of smell. The aim of this article was to remind readers about this condition that need to be part of the differential diagnosis ...
Ashraf Nabeel Mahmood, Osama Abulaban, Arshad Janjua   +2 more
doaj   +1 more source

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, Clémence Vanlerberghe, Anne Dieux, Laura Feyereisen, Florence Jobic, Laurence Lode, Gwenael Le Guyader, Florence Petit, Elise Schaefer, Khaoula Zaafrane‐Khachnaoui, Alban Ziegler, Olivier Patat   +13 more
wiley   +1 more source

Associação entre aplasia segmentar de veia safena magna e varizes em membros inferiores avaliada pelo ecocolor Doppler

Jornal Vascular Brasileiro, 2015
ResumoContextoHá diferenças individuais no diâmetro da veia safena magna (VSM) em membros normais e doentes; sendo possível a identificação dessas alterações pelo ecocolor Doppler.ObjetivoAvaliar a associação da aplasia segmentar da VSM com a presença de
Amélia Cristina Seidel, Pedro Cavalari Júnior, Robson Marcelo Rossi, Fausto Miranda Júnior   +3 more
doaj   +1 more source

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Right Lung Agenesis with Dextrocardia: A Case Mismanaged as Pneumonia

Journal of Medical Sciences and Health, 2017
Pulmonary agenesis is an extremely rare congenital anomaly with an incidence varying between 1/10,000 and 12,000 births. It is defined as complete absence of bronchus, parenchyma, and vessels which may vary in degrees of severity. A variety of congenital
Pradosh Kumar Sarangi, Sanket Kulkarni, Sasmita Parida, Basanta Manjari Swain, Jayashree Mohanty   +4 more
doaj  

Total segmental aplasia of uterus body in bitch

Asian Pacific Journal of Reproduction, 2019
Congenital anomalies of the female tubular genital tract are rare and known as segmental aplasia, resulting from incomplete development of paramesonephric ducts during embryonic stage, which originate from the cranial portion of vagina, cervix, uterus ...
Leonardo Martins Leal, Fábio Rodrigo Castro Bastos, Tais Harumi de Castro Sasahara, Paola Castro Moraes, Márcia Rita Fernandes Machado   +4 more
doaj   +1 more source

Prevalence and Associated Factors of Olfactory and Gustatory Loss in Patients With Nasal Septal Deviation

Clinical Otolaryngology, EarlyView.
ABSTRACT Objectives This study aimed to evaluate the olfactory and gustatory functions of patients with nasal septal deviation (NSD) and identify the factors associated with olfactory loss (OL) and gustatory loss (GL). Design and Setting Retrospective data analysis of cohort group. Participants Two‐hundred fourteen adult patients with NSD at a tertiary
Ja‐Yoon Kim, Hyung‐Ju Cho, Chang‐Hoon Kim, Min‐Seok Rha   +3 more
wiley   +1 more source

Pure red cell aplasia and associated thymoma

Clinics and Practice, 2011
Pure red cell aplasia is a rare cause of anemia, caused by an absence of red blood cell precursors in the bone marrow. It is usually a paraneoplastic syndrome, associated most commonly with large-cell granular lymphocyte leukemia but also thymoma.
Cristian Rosu, Sandra Cohen, Caroline Meunier, Denise Ouellette, Gilles Beauchamp, George Rakovich   +5 more
doaj   +1 more source

Role of Frailty in Assessing Eligibility for CAR T‐Cell Therapy in Haematology

European Journal of Haematology, EarlyView.
ABSTRACT Background and Objectives Frailty is a key consideration in determining whether a patient is robust enough for CAR T‐cell therapy; however, it should not represent a barrier to treatment. Our study aimed to describe the extent of research concerning frailty in haematology adult and paediatric patients being considered for CAR T‐cell therapy ...
Jennifer Clesham, Joan McGrory, Aoife Bannon, Deirbhle Cox, Maura Dowling   +4 more
wiley   +1 more source

Herpes Zoster in Hematological Disorders: Pathogenesis, Risk Stratification, and Emerging Strategies for Prevention and Immunization

European Journal of Haematology, EarlyView.
ABSTRACT Background Herpes zoster (HZ), resulting from reactivation of latent varicella‐zoster virus (VZV), imposes a significant burden on immunocompromised patients, particularly those with hematological malignancies and recipients of hematopoietic stem cell transplants (HSCT).
Enrica Antonia Martino, Ernesto Vigna, Antonella Bruzzese, Nicola Amodio, Eugenio Lucia, Virginia Olivito, Caterina Labanca, Santino Caserta, Francesco Mendicino, Fortunato Morabito, Massimo Gentile   +10 more
wiley   +1 more source