Results 41 to 50 of about 3,577 (186)

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes? [PDF]

, 2018
PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive Generalised Lymphatic Dysplasia of Fotiou (GLDF) and autosomal dominant Dehydrated Hereditary Stomatocytosis with or without ...
Albuisson, Ami, Andolfo, Bae, Bellini, Brown, Cahalan, Cha, Chin, Cox, Cummins, Del Orbe Barreto, Entezami, Fotiou, Glogowska, Grootenboer, Grootenboer, Gudipaty, Li, Lukacs, Martins, Miller, Ranade, Rees, Sabine, Syfuss, Wang, Wu, Yang, Zarychanski, Zhu   +30 more
core   +1 more source

Non-immune hydrops fetalis: a case series

International Journal of Contemporary Pediatrics, 2020
Hydrops fetalis is a clinical condition characterized by pathological fluid accumulation in soft tissues and serous cavities of the fetus like peritoneal cavity, pleural cavity, pericardial space, and body wall edema. Hydrops fetalis is broadly classified into Immune Hydrops Fetalis (IHF) and Non-Immune Hydrops Fetalis (NIHF).
Niladri Das, Sushma Malik, Prachi Gandhi, Vinaya A. Singh, Poonam Wade   +4 more
openaire   +2 more sources

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies [PDF]

Clinica Chimica Acta, 2006
At least 20 inborn errors of metabolism may cause hydrops fetalis. Most of these are lysosomal storage diseases. The study proposes a diagnostic flowchart for prenatal diagnosis of non-immune hydrops fetalis.This study contains a series of 75 non-immune hydrops fetalis pregnancies. Mucopolysaccharides, oligosaccharides, neuraminic acid and 21 lysosomal
Kooper, A.J.A., Janssens, P.M.W., Groot, A.N.J.A. de, Liebrand-van Sambeek, M.L.F., Berg, C.J.M.G. van den, Tan-Sindhunata, G.B., Berg, P.P. van den, Bijlsma, E.K., Smits, A.P.T., Wevers, R.A.   +9 more
openaire   +3 more sources

Human parvovirus B19 infection and hydrops fetalis in Rio de Janeiro, Brazil

Memorias do Instituto Oswaldo Cruz, 1996
Formalin-fixed paraffin embedded lung and liver tissue from 23 cases of non immune hydrops fetalis and five control cases, in which hydrops were due to syphilis (3) and genetic causes (2), were examined for the presence of human parvovirus B19 by DNA ...
Rita CN Cubel, Aparecida GP Garcia, Claudia S Pegado, Hilda I Ramos, Maria EF Fonseca, Jonhatan P Clewley, Bernard J Cohen, Jussara P Nascimento   +7 more
doaj   +1 more source

BCR::ABL1 Tyrosine Kinase Inhibitors During Pregnancy, a Disproportionality Analysis of Vigibase. [PDF]

Clin Pharmacol Ther
Tyrosine kinase inhibitors (TKIs) targeting BCR::ABL1 have greatly improved the survival of patients with chronic myeloid leukemia (CML), and their teratogenicity appears as an important factor for individuals of childbearing potential. This study aims to investigate pregnancy and fetal/newborn adverse outcomes resulting from exposure to BCR::ABL1‐TKIs
Cabannes-Hamy A, Kabirian R, Jochum F, Bihan K, Dumas E, Coussy F, Laas E, Rousselot P, Choquet S, Uzunov M, Salomon L, Reyal F, Hamy AS, Gougis P.   +13 more
europepmc   +2 more sources

Early-Onset Autoimmune Disease as a Manifestation of Primary Immunodeficiency [PDF]

, 2015
Autoimmune disorders (AID) have been increasingly observed in association with primary immunodeficiencies (PIDs). Here, we discuss the interface between PID and AID, focusing on autoimmune manifestations early in life, which can be diagnostic clues for ...
Carneiro-Sampaio, Magda, Coutinho, Antonio   +1 more
core   +2 more sources

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Non-immune hydrops fetalis: etiology, pathogenesis, features of diagnosis and treatment in the fetus and newborn

Детские инфекции (Москва)
Non-immune hydrops fetalis is a polyetiological disease characterized by high perinatal mortality. The development of non-immune fetal hydrops is associated with diseases of the cardiovascular and lymphatic systems, genetic and chromosomal diseases ...
S. V. Dumova, H. A. Sarkisyan, O. L. Chugunova, I. D. Prokhorov, M. I. Nikolaeva, M. R. Globa, D. I. Nam, I. V. Zhuravleva, P. V. Shumilov   +8 more
doaj   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Non‐immune hydrops fetalis: a practical guide for obstetricians

The Obstetrician & Gynaecologist, 2023
Key content Hydrops fetalis is the accumulation of two or more fetal fluid collections, including pericardial effusion, pleural effusion(s), ascites and skin oedema. In the absence of red cell alloimmunisation, hydrops fetalis is non‐immune and affects approximately 1 in 2000 pregnancies.
Khairudin, Delima, Alfirevic, Zarko, Mone, Fionnuala, Navaratnam, Kate   +3 more
openaire   +3 more sources