Results 31 to 40 of about 10,139 (212)

Genetic and clinical features of hemoglobin H disease in Chinese patients [PDF]

, 2000
Background. Normally, one pair of each of the two α-globin genes, α1 and α2, resides on each copy of chromosome 16. In hemoglobin H disease, three of these four α-globin genes are affected by a deletion, a mutation, or both.
Chan, TK, Chan, V, Chen, FE, Cheung, BMY, Ha, SY, Liang, R, Ooi, C, Todd, D   +7 more
core   +1 more source

Prevalence and genotypes of α- and β-thalassemia carriers in Hong Kong - Implications for population screening [PDF]

, 1997
Background: The thalassemias are common in southern China. We determined the prevalence of heterozygous carriers of these genetic disorders in Hong Kong and assessed the feasibility of a community-based screening program.
Chan, LC, Chan, YYA, Chui, DHK, Ha, SY, Lau, YL, Waye, JS, Yeung, CY   +6 more
core   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]

, 2018
Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.
Andreasen, Tara S, Lamale-Smith, Leah M, Mao, Rong, Melber, Dora J, Miller, Christine E, Moore, Thomas R, Tvrdik, Tatiana, Woelkers, Douglas A   +7 more
core  

An approach to familial lymphoedema. [PDF]

, 2017
Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments,
Atton, Brice, Joyce, Keppler-Noreuil, Stemmer   +4 more
core   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Multiple Choriangiomas of Placenta [PDF]

, 2011
Placental chorangiomas, not an uncommon condition is often small and hence usually goes unnoticed . However the incidence of complications is high when the chorangioma is large. We hereby present an unusual case of large and multiple choriangiomas with
Krishnan, Nalini, MG, Abhishek, MU, Thejaswini, S, Vijay Shankar, Shivakumar, Swarna   +4 more
core   +1 more source

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

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

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen   +4 more
wiley   +1 more source