Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss

2020 ◽  
Vol 160 (5) ◽  
pp. 245-254
Author(s):  
Ekaterina N. Tolmacheva ◽  
Anna A. Kashevarova ◽  
Lyudmila P. Nazarenko ◽  
Larisa I. Minaycheva ◽  
Nikolay A. Skryabin ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Deficiency Syndrome ◽  
Incomplete Penetrance ◽  
Microdeletion Syndromes ◽  
First Case ◽  
History Of

Chromosomal microdeletion syndromes present with a wide spectrum of clinical phenotypes that depend on the size and gene content of the affected region. In a healthy carrier, epigenetic mechanisms may compensate for the same microdeletion, which may segregate through several generations without any clinical symptoms until the epigenetic modifications no longer function. We report 2 novel cases of Xq24 microdeletions inherited from mothers with extremely skewed X-chromosome inactivation (sXCI). The first case is a boy presenting with X-linked mental retardation, Nascimento type, due to a 168-kb Xq24 microdeletion involving 5 genes (CXorf56, UBE2A, NKRF, SEPT6, and MIR766) inherited from a healthy mother and grandmother with sXCI. In the second family, the presence of a 239-kb Xq24 microdeletion involving 3 additional genes (SLC25A43, SLC25A5-AS1, and SLC25A5) was detected in a woman with sXCI and a history of recurrent pregnancy loss with a maternal family history without reproductive wastages or products of conception. These cases provide evidence that women with an Xq24 microdeletion and sXCI may be at risk for having a child with intellectual disability or for experiencing a pregnancy loss due to the ontogenetic pleiotropy of a chromosomal microdeletion and its incomplete penetrance modified by sXCI.

Etiology and clinical features of epididymo-orchitis: A single-center study in Tehran, Iran

2020 ◽  
Vol 20 ◽  
Author(s):  
Sara Abolghasemi ◽  
Mohammad Alizadeh ◽  
Ali Hashemi ◽  
Shabnam Tehrani
Keyword(s):  
Chlamydia Trachomatis ◽  
Clinical Symptoms ◽  
Urine Culture ◽  
Clinical Manifestations ◽  
Urinary Frequency ◽  
Serological Tests ◽  
Duration Of Symptoms ◽  
Two Samples ◽  
History Of ◽  
Tract Infections

Introduction: Epididymo-orchitis is a common urological disease among men. Little is known about the clinical and epidemiological aspects of the disease in Iran. Thus, the present study was aimed to investigate the etiology, clinical sequelae and risk factors of patients with epididymo-orchitis in Tehran, Iran. Materials and Methods: Patients presenting with epididymo-orchitis were prospectively analyzed in order to study the etiology and pattern of the disease. Bacteriological, molecular and serological tests were undertaken to look for Chlamydia trachomatis, Neisseria gonorrhoeae, Brucella spp., Mycoplasma spp, and other bacteria. Results: Fifty patients with epididymo-orchitis were evaluated according to their clinical symptoms, duration of symptoms, physical examination, and laboratory studies. The mean age of the patients was 53 years. Fever, dysuria, pain in the flanks, urinary frequency and discharges occurred in 58.0%, 50.0%, 50.0%, 28.0% and 6.0%, respectively. Bacterial pathogen was identified in 26% (13/50) of patients by urine culture. Escherichia coli was the etiological agent in 11/13 patients (84.6%). Two out of 50 patients (4.0%) were also positive for Chlamydia trachomatis. Two samples were serologically positive for Brucella spp. High Mean age, fever, urinary frequency, history of the underlying disease and history of urinary tract infections were found to have a significant association with the positive bacteriologic urine culture (P<0.05). Conclusions: The most common clinical manifestations were fever, dysuria, and abdominal pain. E. coli and C. trachomatis were the major causative agents. Use of a set of diagnostic approaches including clinical symptoms, urine culture and more precise techniques such as PCR should be taken into consideration for the definitive diagnosis.

scholarly journals Investigating Association of rs5918 Human Platelets Antigen 1 and rs1800790 Fibrinogen β Chain as Critical Players with Recurrent Pregnancy Loss

2018 ◽  
Vol 6 (4) ◽  
pp. 98 ◽  
Author(s):  
Fatemeh Karami ◽  
Maliheh Askari ◽  
Mohammad Modarressi
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Human Platelets ◽  
P Value ◽  
Increased Risk ◽  
History Of ◽  
Polymerase Chain ◽  
Β Chain ◽  
Larger Sample

Thrombophilia gene variants have been shown to be associated with higher risk of recurrent pregnancy loss (RPL). Due to the role of human platelets antigen 1 (HPA-1) and fibrinogen β chain (FGB) as critical players in the coagulation process, their most important variants including rs5918 T > C and rs1800790 G > A were selected to be studied in women affected by RPL. Three milliliters of peripheral blood were drawn from 110 women with history of at least two consecutive spontaneous abortion and 110 healthy women controls. rs5918 T > C and rs1800790 G > A of HPA-1 and FGB genes, respectively, were selected to be analyzed through polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) following DNA isolation using QIAamp DNA Blood Mini Kit. Heterozygote genotype (TC) of HPA-1 gene rs5918 polymorphism was significantly associated with risk of RPL (p-value = 0.02). Although, rs1800790 G > A of FGB gene was not associated with RPL, its combination with rs5918 polymorphism was associated with increased risk of RPL. Owing to the critical roles of FGB and HPA-1 genes in coagulation, and thrombosis and several confinements on the meaningful association between the combination of those polymorphism with risk of RPL, including them in the thrombophilia panel may increase detection rate of hereditary thrombophilia patients. However, further studies with larger sample sizes are required to shed light on the exact role of the studied gene polymorphism, especially rs1800790 G > A of FGB gene variant in pathogenesis of RPL.

scholarly journals Clinical Characteristics and CT Manifestations of 143 Patients With 2019 Novel Coronavirus Disease (COVID-19) in Taizhou City, Zhejiang, China

2020 ◽  
Author(s):  
Yani Kuang ◽  
Susu He ◽  
Shuangxiang Lin ◽  
Rui Zhu ◽  
Rongzhen Zhou ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Protein A ◽  
Clinical Manifestations ◽  
Imaging Features ◽  
First Case ◽  
Severe Group ◽  
Laboratory Examinations ◽  
The Difference ◽  
Severity Of The Disease ◽  
Novel Coronavirus

Abstract Background: In December 2019, the first case of pneumonia associated with the SARS-CoV-2 was found in Wuhan and rapidly spread throughout China, so data are needed on the affected patients. The purpose of our study was to find the clinical manifestations and CT features of COVID-19.Methods: All patients with COVID-19 in Taizhou city were retrospectively included and divided into non-severe group and severe group according to the severity of the disease. The clinical manifestations, laboratory examinations and imaging features of COVID-19 patients were analyzed, and the differences between the two groups were compared.Results: A total of 143 laboratory-confirmed cases were included in the study, including 110 non-severe patients and 33 severe patients. The median age of patients was 47 (range 4–86 years). Fever (73.4%) and cough (63.6%) were the most common initial clinical symptoms. Between two groups of cases, the results of aspartate transaminase, creatine kinase and lactate dehydrogenase, serum albumin, CR, glomerular filtration rate, amyloid protein A, fibrinogen, calcitonin level and oxygen partial pressure, IL – 10, absolute value of CD3, CD4, CD8 were different, and the difference was statistically significant (P < 0.05). Therefore, these quantitative indicators can be used to help assess the severity. On admission, the CT showed that the lesions were mostly distributed in the periphery of the lung or subpleural (135 cases (98%)), and most of lesions presented as patchy (81%), mixed density (63%) shadow. Consolidation (68% vs 41%), bronchial inflation signs (59% vs 41%), and bronchiectasis (71% vs 39%) were more common in the severe group.Conclusions: Most of the cases of COVID-19 in Taizhou have mild symptoms and no death. In addition to clinical symptoms, some laboratory tests (such as absolute values of CD4 and CD8) and CT findings can be used to assess the severity of the disease.

scholarly journals Puzzle Out the Reason behind Habitual Miscarriage

2020 ◽  
pp. 92-98
Author(s):  
Waqas Ahmad ◽  
Shahid Bilal ◽  
Sarah Azhar ◽  
Muhammad Aitmaud Uddolah Khan ◽  
Nasima Iqbal ◽  
...  
Keyword(s):  
Risk Factors ◽  
Maternal Age ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Multinomial Logistic Regression ◽  
Strong Association ◽  
Multinomial Logistic Regression Model ◽  
Multiple Risk Factors ◽  
Bivariate Correlation ◽  
History Of

Aims: As no data is available in Pakistan so the aim of current study is to find out the link of multiple risk factors with recurrent pregnancy loss (RPL) in Pakistan. Study Design: Case control study. Place and Duration of Study: Study conducted in Obstetrics and Gynecology Clinic of Benazir Bhutto Hospital, Holy Family Hospital Rawalpindi and Polyclinic Hospital Islamabad from November 2018 to April 2019. Methodology: Subjects were investigated on the basis of an in depth Performa. For data analysis Statistical package for social sciences version-20 was used. Beside this, height in cm, weight in kg and blood pressure in mmHg were recorded. All the statistical calculations were performed by using SPSS 20. For association analysis of qualitative variables Spearman bivariate correlation was calculated while for numerical variables ANOVA was applied. Multinomial logistic regression model was used and the odd ratio and relative risk were calculated. Results: Among cases 91.34% were having spontaneous miscarriage and majority (64.86%) were during first trimester. Spearman bivariate correlation reported a strong association of recurrent pregnancy loss with the risk factors including family history, smoking, obesity, history of hypertension and history of diabetes, having highly significant p-values, on the hand, significant association of maternal age with the frequency of recurrent pregnancy loss was found but not with the paternal age and parity. The multinomial logistic regression model showed that smokers were19.012 times more prone to develop recurrent pregnancy loss. Conclusion: The multiple risk factors including maternal age, obesity, smoking, family history, body mass index, hypertension and diabetes have a strong association with the recurrent pregnancy loss. So keeping these risk factors in mind a careful evaluation of each pregnancy is necessary to reduce the risk of recurrent pregnancy loss.

scholarly journals Endometrial evaluation with methylene blue staining in patients with normal hysteroscopy

2019 ◽  
Vol 8 (7) ◽  
pp. 2715
Author(s):  
Alka Goel ◽  
Pooja Gupta ◽  
Akansha Singh ◽  
Khushboo Singh
Keyword(s):  
Methylene Blue ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Blue Staining ◽  
False Negatives ◽  
Normal Endometrium ◽  
Significant Difference ◽  
History Of ◽  
Dark Blue

Background: Normally, endometrium comprises of non-absorptive epithelium and does not take up stain. Conventional staining with methylene blue is explained on the basis of existence of apoptotic cells in endometrium.Methods: Of 50 patients of unexplained infertility, AUB, recurrent pregnancy loss were randomly selected and included in the study. Those with abnormal ultrasound and history of tuberculosis were excluded. Conventional hysteroscopy was performed using normal saline as distending medium and in those with grossly normal endometrium were subjected to staining with 5% methylene blue instilled trans cervically. After 5 min, irrespective of the size and pattern, focal dark blue stained areas were considered abnormal and randomly biopsied. Incidence of endometritis in both groups was compared after histopathological examination.Results: Of total 50 patients, histopathological report of only one patient with dark blue staining had evidence of endometritis. Rest had no evidence, of which 73.5% had light blue or unstained areas and 26.5% showed dark blue staining. No statistically significant difference was found between histopathological reports and light or dark blue staining (p=0.28). When percentage stained area was considered more than 50% only to be positive, sensitivity was 100%, specificity 94%, PPV 25% and NPV 100%. False positives were 75% and no false negatives were observed. Although p values improved but still statistically insignificant.Conclusions: Present study failed to establish any significant correlation between staining pattern and detection rate of endometritis. With no Indian studies published on chromohysteroscopy so far, role of methylene blue in detection of subtle endometrial changes in modern gynaecology in Indian subpopulation is yet to be established.

scholarly journals Association Study between the Polymorphisms of Matrix Metalloproteinase (MMP) Genes and Idiopathic Recurrent Pregnancy Loss

Genes ◽  
2019 ◽  
Vol 10 (5) ◽  
pp. 347 ◽  
Author(s):  
Han Sung Park ◽  
Ki Han Ko ◽  
Jung Oh Kim ◽  
Hui Jeong An ◽  
Young Ran Kim ◽  
...  
Keyword(s):  
Confidence Interval ◽  
Odds Ratio ◽  
Pregnancy Loss ◽  
Adjusted Odds Ratio ◽  
Recurrent Pregnancy Loss ◽  
Proteolytic Enzymes ◽  
Nucleotide Polymorphisms ◽  
Genotype Combination ◽  
History Of ◽  
Consecutive Pregnancy

Recurrent pregnancy loss (RPL) refers to two or more consecutive pregnancy losses. It is estimated that fewer than 5% of women experience RPL. Matrix metalloproteinases (MMPs) are a family of proteolytic enzymes that play important roles in providing a safe and conducive environment for the stable development of the fetus. In this case-control study, we evaluated the associations between RPL and single nucleotide polymorphisms (SNPs) in MMP-8 and MMP-27. We recruited 375 Korean women with a history of RPL and 240 ethnically-matched healthy parous controls, and we performed genotyping for the MMP-8 rs2509013 C>T, MMP-8 rs11225395 G>A, and MMP-27 rs3809017 T>C polymorphisms. All SNPs were genotyped via the polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) assay. In the genotype frequency analyses, the TT genotype of the MMP-8 rs2509013 C>T (age-adjusted odds ratio, 0.415; 95% confidence interval, 0.257–0.671; P = 0.0003) and TC genotype of MMP-27 rs3809017 T>C (age-adjusted odds ratio, 0.681; 95% confidence interval, 0.483–0.961; P = 0.029) were associated with decreased RPL susceptibility. Moreover, these trends were maintained in the haplotype and genotype combination analyses. Interestingly, amongst the RPL patients, higher levels of homocysteine (P = 0.042) and uric acid (P = 0.046) were associated with MMP-27 rs3809017 T>C. In conclusion, the two polymorphisms of MMP-8 and MMP-27 were significantly associated with RPL risk, both individually and in combination. Therefore, these two polymorphisms are potential biomarkers for RPL susceptibility.

scholarly journals Endometrial polyp filled with gestational tissues remained undiscovered in an infertile woman for years: a case report

2020 ◽  
Vol 2020 (6) ◽  
Author(s):  
Najah Dhemesh ◽  
Maysam Hamsho ◽  
Habib Jarbouh
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Medical Literature ◽  
Endometrial Polyp ◽  
Infertile Woman ◽  
Common Disease ◽  
Blood Tests ◽  
Cellular Atypia ◽  
History Of ◽  
Gestational Tissues

Abstract Recurrent pregnancy loss (RPL) is a common disease, which presents as two, three or more failed pregnancies. It is attributed to many risk factors, yet half of the cases are idiopathic. In this report, we present a case of a 44-year-old woman with a complaint of secondary infertility for 10 years and a history of three spontaneous abortions. Blood tests and images showed no abnormalities, except for hysteroscopy which showed a polyp-like mass. Pathology revealed an endometrial stroma showing severe decidualization with a lot of gestational villi showing fibrosis and hyaline degeneration, features of old gestational product death, with no glands crowding or cellular atypia. In this case, the conception products were not preceded with a miscarriage and did not cause any symptoms indicating its existing. The asymptomatic endometrial polyp filled with fibrotic gestational villi without a prior miscarriage is an unprecedented case in the medical literature.

scholarly journals 593: Maternal history of recurrent pregnancy loss and long-term risk of thromboembolic events

2019 ◽  
Vol 220 (1) ◽  
pp. S393-S394
Author(s):  
Polina Schwarzman ◽  
Dorit Paz ◽  
Asnat Walfisch ◽  
Ruslan Sergienko ◽  
Eyal Sheiner
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Thromboembolic Events ◽  
Maternal History ◽  
History Of
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