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Hospital de Órbigo, Spain

Urban M.F.,University of Cape Town | Stewart C.,University of Cape Town | Ruppelt T.,Cytogenetic Laboratory | Geerts L.,Stellenbosch University
South African Medical Journal | Year: 2011

Objective. The prenatal screening programme for Down syndrome (DS) in the South African public health sector remains primarily based on advanced maternal age (AMA). We assessed the changes over time and effectiveness of this screening programme within a Cape Town health district. Methods. Retrospective analysis of the Groote Schuur Hospital Cytogenetic Laboratory and Pregnancy Counselling Clinic databases and audit of maternal delivery records at a primary health care facility. Results. The number of amniocenteses performed for AMA in consecutive 5-year periods reduced progressively from 786 in 1981 - 1985 to 360 in 2001 - 2005. Comparing prenatal with neonatal diagnoses of DS, the absolute number and the proportion diagnosed prenatally have remained relatively constant over time The Pregnancy Counselling Database showed that, of 507 women receiving genetic counselling for AMA in 2008 - 2009, 158 (31.1%) accepted amniocentesis - uptake has reduced considerably since the early 1990s. The audit of women delivering at a primary care facility found that only 10 (16.4%) of 61 AMA women reached genetic counselling in tertiary care: reasons included late initiation of antenatal care and low referral rates from primary care. Conclusion. Prenatal screening and diagnosis for DS based on AMA is working ineffectively in the Cape Town health district assessed, and this appears to be representative of a broader trend in South Africa. Inclusion of fetal ultrasound in the process of prenatal screening for DS should be explored as a way forward. Source


Hager M.,Granulocyte Research Laboratory | Pedersen C.C.,Granulocyte Research Laboratory | Larsen M.T.,Granulocyte Research Laboratory | Andersen M.K.,Cytogenetic Laboratory | And 5 more authors.
Blood | Year: 2011

Smad4 is important in the TGF-β pathway and required for transcriptional activation and inhibition of cell growth after TGF-β1 stimulation. We demonstrate that miR-130a is differentially expressed during granulopoiesis and targets Smad4 mRNA. The transcript for Smad4 is present throughout neutrophil maturation, but Smad4 protein is undetectable in the most immature cells, where miR-130a is highly expressed. Two miR-130a binding sites were identified in the 3′-untranslated region of the Smad4 mRNA. Overexpression of miR-130a in HEK293, A549, and 32Dcl3 cells repressed synthesis of Smad4 protein without affecting Smad4 mRNA level. Repression of Smad4 synthesis in a granulocytic cell line by miR-130a reduced its sensitivity to TGF-β1-induced growth inhibition. This effect was reversed by inhibiting the activity of miR-130a with an antisense probe or by expressing a Smad4 mRNA lacking miR-130a binding sites. High endogenous miR-130a and Smad4 mRNA levels and low expression of Smad4 protein were found in the t(8;21)(q22;q22) acute myelogenous leukemia-derived cell line Kasumi-1. When miR-130a was inhibited by an antisense RNA, the amount of Smad4 protein increased in Kasumi-1 cells and rendered it susceptible for TGF-β1-mediated cell growth inhibition. Our data indicate that miR-130a is involved in cell cycle regulation of granulocytic cells through engagement of Smad4 in the TGF-β pathway. © 2011 by The American Society of Hematology. Source


Lima M.I.,Electronic Microscopy Laboratory | Abe K.T.,Cytogenetic Laboratory
Orthopedic Research and Reviews | Year: 2014

A 53-year-old man presented in 2009 with a tumor over the dorsum of his hand and wrist. Magnetic resonance imaging was performed before surgery and histopathological and immunohistochemical studies were performed after surgery. This demonstrated an ill-defined lesion measuring 46 mm × 31 mm confined to the subcutaneous tissues, extensor tendons, and articular capsule on the dorsum of the hand and wrist with heterogeneous intermediate and high T1 and T2 signal suggesting a complex mixture of fat and fibrous elements. A histopathologi­cal differential diagnosis of hemosiderotic fibrohistiocytic lipomatous lesion/tumor (HFLL/T) and giant-cell tumor of tendon sheath and fibroma of tendon sheath was made. We describe this rare lesion and call attention to important points in diagnosis. © 2014 Batista et al. Source


Su S.-Y.,Chang Gung University | Chueh H.-Y.,Chang Gung University | Li C.-P.,Cytogenetic Laboratory | Chang Y.-L.,Chang Gung University | And 5 more authors.
Taiwanese Journal of Obstetrics and Gynecology | Year: 2015

Objective: To evaluate how interphase fluorescence in situ hybridization (FISH) played a role in genetic counseling when encountering prenatally detected fetal mosaicism cases. Materials and methods: We retrospectively reviewed 17 cases of amniotic fluid specimens diagnosed with Level III chromosome mosaicism using in situ coverslip culture method. Among them, seven received additional interphase FISH tests; five were related to autosomal mosaicism and two others were due to sex chromosomes. Results: In the autosome group, one couple chose to terminate the pregnancy due to a high percentage of trisomy 21 cells (48.1%) shown on interphase FISH; in the gonosome group, one case chose termination as FISH exhibited as high as 80% of XXYY cells. Conclusion: Performing interphase FISH on uncultured amniocytes for cases detected with mosaicism by traditional amniotic fluid culture provided quick confirmation of the karyotyping results; additionally, obtaining information about the extent of the abnormality involved using interphase FISH could also play a role in counseling patients on the decision making concerning the future of their pregnancies. © 2015. Source


Vaags A.K.,Applied Genomics | Lionel A.C.,Applied Genomics | Lionel A.C.,University of Toronto | Sato D.,Applied Genomics | And 26 more authors.
American Journal of Human Genetics | Year: 2012

The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important roles in synapse development and function. In autism spectrum disorder (ASD), as well as in other neurodevelopmental conditions, rare exonic copy-number variants and/or point mutations have been identified in the NRXN1 and NRXN2 loci. We present clinical characterization of four index cases who have been diagnosed with ASD and who possess rare inherited or de novo microdeletions at 14q24.3-31.1, a region that overlaps exons of the alpha and/or beta isoforms of NRXN3. NRXN3 deletions were found in one father with subclinical autism and in a carrier mother and father without formal ASD diagnoses, indicating issues of penetrance and expressivity at this locus. Notwithstanding these clinical complexities, this report on ASD-affected individuals who harbor NRXN3 exonic deletions advances the understanding of the genetic etiology of autism, further enabling molecular diagnoses. © 2012 The American Society of Human Genetics. Source

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