scholarly journals A Curse of Knowledge in Diagnosis of Thalassemia

Author(s):  
Fatma Aljasmi ◽  
Srdjan Denic ◽  
Abdul-Kader Souid

How socioeconomic development affect the diagnosis of thalassemia? Here, we report a couple (husband and wife) from United Arab Emirates (UAE) with microcytic anemia. The parents belong to Arabian tribes with a high prevalence of a- and b-thalassemia. They wanted to have another (sixth) child and their blood counts were investigated before in vitro fertilization. The parents and five children had standard blood tests (complete blood and reticulocyte cell counts, serum ferritin, and hemoglobin analysis) followed by genetic investigations of hemoglobin-a locus 1 and 2.  In addition, the parents had a genetic investigation of hemoglobin-b locus for 22 common variants.  The parents were found to have no abnormality in hemoglobin-b locus.  They had two pathogenic a-globin gene variants: one rare variant in the 3’ prime untranslated region of HBA2 (c.*92A>G; rs63750067) and one common deletion in HBA2 (-a3.7). There were four distinct genotypes: -a3.7 homozygote (mother), c.*92A>G heterozygote (father), double heterozygotes (four children), and -a 3.7 heterozygote (one child).  The couple was cleared for the in vitro fertilization.  In contrast to ‘standard’ approach, the genetic test for thalassemia is controversial. The findings in this family are discussed in the context of recent epidemiologic and genetic studies in the local population. It was concluded that the rapid development in the UAE was accompanied by acquisition of new information about thalassemia which, paradoxically, increased diagnostic uncertainties in the setting of premarital guidance.

2018 ◽  
Vol 38 (2) ◽  
pp. 256-261
Author(s):  
Celso Antonio Rodrigues ◽  
Paulo Sergio P. Santos ◽  
Francisco Leydson F. Feitosa ◽  
Sílvia Helena V. Perri ◽  
Júlio Augusto N. Lisboa ◽  
...  

ABSTRACT: The aim of this study was to measure serum immunoglobulin concentrations of Nellore cattle produced by in vitro fertilization (IVF) with umbilical diseases and to evaluate surgical excision as a method of treatment. Sixteen cattle with ages ranging from 1 to 15 months, males and females, affected by umbilical diseases were enrolled in the study. Blood samples were collected for cell counts and the determination of immunoglobulin concentrations by electrophoresis and zinc sulphate turbidimetry (ZST). Four calves were presented with umbilical herniation, two with an umbilical herniation associated with a persistent urachus, two with an umbilical herniation with a persistent urachus and omphaloarteritis, three with an umbilical herniation and an urachal diverticulum, three with a persistent urachus, one with an urachal diverticulum, and one with omphalitis. The blood cell counts pre- and post-surgical revealed differences in cell volume and the number of leukocytes. The immunoglobulin values measured by electrophoresis values were below normal in most animals, whereas the ZST showed normal levels in most of them. Most of the calves affected by umbilical diseases and produced by IVF presented hypoglobulinaemia. Correlations between umbilical diseases, failure of passive transfer of immunity and IVF could not be demonstrated.


2020 ◽  
Vol 26 (11) ◽  
pp. 2283-2285
Author(s):  
Mouza Al Ameri ◽  
Ibrahim Y. Hachim ◽  
Fatima Y. AL Hashmi ◽  
Fatima AlHarmoodi ◽  
Dina Al Awlaqi ◽  
...  

MedPharmRes ◽  
2018 ◽  
Vol 2 (2) ◽  
pp. 5-20
Author(s):  
Vu Ho ◽  
Toan Pham ◽  
Tuong Ho ◽  
Lan Vuong

IVF carries a considerable physical, emotional and financial burden. Therefore, it would be useful to be able to predict the likelihood of success for each couple. The aim of this retrospective cohort study was to develop a prediction model to estimate the probability of a live birth at 12 months after one completed IVF cycle (all fresh and frozen embryo transfers from the same oocyte retrieval). We analyzed data collected from 2600 women undergoing in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) at a single center in Vietnam between April 2014 and December 2015. All patients received gonadotropin-releasing hormone (GnRH) antagonist stimulation, followed by fresh and/or frozen embryo transfer (FET) on Day 3. Using Cox regression analysis, five predictive factors were identified: female age, total dose of recombinant follicle stimulating hormone used, type of trigger, fresh or FET during the first transfer, and number of subsequent FET after the first transfer. The area under the receiver operating characteristics curve for the final model was 0.63 (95% confidence interval [CI] 0.60‒0.65) and 0.60 (95% CI 0.57‒0.63) for the validation cohort. There was no significant difference between the predicted and observed probabilities of live birth (Hosmer-Lemeshow test, p > 0.05). The model developed had similar discrimination to existing models and could be implemented in clinical practice.


Reproduction ◽  
2000 ◽  
pp. 15-23 ◽  
Author(s):  
K Jewgenow ◽  
M Rohleder ◽  
I Wegner

Despite many efforts, the control of reproduction in feral cat populations is still a problem in urban regions around the world. Immunocontraception is a promising approach; thus the present study examined the suitability of the widely used pig zona pellucida proteins (pZP) for contraception in feral domestic cats. Purified zona pellucida proteins obtained from pig and cat ovaries were used to produce highly specific antisera in rabbits. Antibodies against pZP raised in rabbits or lions were not effective inhibitors of either in vitro sperm binding (cat spermatozoa to cat oocytes) or in vitro fertilization in cats, whereas antibodies against feline zona pellucida proteins (fZP) raised in rabbits showed a dose-dependent inhibition of in vitro fertilization. Immunoelectrophoresis, ELISA and immunohistology of ovaries confirmed these results, showing crossreactivity of anti-fZP sera to fZP and to a lesser extent to pZP, but no interaction of anti-pZP sera with fZP. It is concluded that cat and pig zonae pellucidae express a very small number of shared antigenic determinants, making the use of pZP vaccine in cats questionable. A contraceptive vaccine based on feline zona pellucida determinants will be a better choice for the control of reproduction in feral cats if immunogenity can be achieved.


2014 ◽  
Author(s):  
Sung-Hun Min ◽  
Jin-Woo Kim ◽  
Yong-Hee Lee ◽  
Jae-Hyun Ahn ◽  
Geon-Yeop Do ◽  
...  

2016 ◽  
pp. 137-139
Author(s):  
K.P. Golovatyuk ◽  

The objective: was to investigate the levels of cytokines IL-4 and IL-17 in serum and conditioned medium cultures of blood mononuclear cells (MNC) and evaluation association between their products and miscarriage, which occurred in IVF cycles. Patients and methods. We observed 240 patients with recurrent miscarriage, came in IVF cycles, and 100 apparently healthy fertile women in the control group. The concentrations of IL-4 and IL-17 in serum and conditioned medium of MNC cultures were determined. Results. The levels of IL-4 in the serum and conditioned medium in spontaneous and stimulated mitogen secretion was not significantly different from those in the control group, whereas IL-17 levels were higher than those in the control group serum, in conditioned media of stimulated and non-stimulated MNCs. Conclusion. Disregulation of activity of circulating blood mononuclear cells in women with recurrent miscarriage that followed IVF, is accompanied by increased secretion of IL-17 and almost constant production of IL-4 on the back of high stimulation index of production of these cytokines. Key words: in vitro fertilization, miscarriage, interleukin-4, interleukin-17, serum stimulated and non-stimulated mononuclear blood.


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