Dataset Information

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study.

ABSTRACT:

Background

Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce.

Objectives

To evaluate the frequency and types of CAs detected by karyotyping in patients with SA.

Design and setting

This retrospective study was performed in a reference clinical genetic service in South Brazil.

Methods

Data were obtained from the medical records of patients with SA who were evaluated between 1975 and 2022. Fisher's bicaudate exact test and Student's t-test were used, and P < 0.05 was considered significant.

Results

Among 43 patients with SA, 14 (32.6%) had CAs, namely del (Xq) (n = 3), 45,X (n = 2), 46,X,r(X)/45,X (n = 2), 46,XX/45,X (n = 1), 46,X,i(q10)/45,X (n = 1), 47,XXX (n = 1), 46,XX/47,XXX (n = 1), 46,XX/47,XX,+mar (n = 1), 45,XX,trob(13;14)(q10;q10)/46,XXX,trob(13;14)(q10;q10) (n = 1), and 46,XX,t(2;21)(q23;q11.2) (n = 1). Additional findings were observed mostly among patients with CA compared with those without CA (P = 0.0021). No difference in the mean age was observed between the patients with SA with or without CAs (P = 0.268025).

Conclusions

CAs are common among patients with SA, especially those with short stature and additional findings. They are predominantly structural, involve the X chromosome in a mosaic, and are compatible with the Turner syndrome. Patients with SA, even if isolated, may have CAs, particularly del (Xq) and triple X.

SUBMITTER: Besson MDR

PROVIDER: S-EPMC10085534 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study.

Besson Marina da Rocha MDR Taiarol Mateus Dos Santos MDS Fernandes Eliaquim Beck EB Ghiorzi Isadora Bueloni IB Nunes Maurício Rouvel MR Zen Paulo Ricardo Gazzola PRG Rosa Rafael Fabiano Machado RFM

Sao Paulo medical journal = Revista paulista de medicina 20230407 5

<h4>Background</h4>Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce.<h4>Objectives</h4>To evaluate the frequency and types of CAs detected by karyotyping in patients with SA.<h4>Design and setting</h4>This retrospective study was performed in a reference clinical genetic service in South Brazil.<h4>Methods</h4>Data were obtained from the medical records of patients with SA who were evaluated between 19 ...[more]

PMID: 37042862

Similar Datasets

Project description:Background Traumatic hemorrhage guidelines include point-of-care viscoelastic tests as a standard of care. Quantra (Hemosonics) is a device based on sonic estimation of elasticity via resonance (SEER) sonorheometry to assess whole blood clot formation. Objectives Our study aimed to assess the ability of an early SEER evaluation to detect blood coagulation test abnormalities in trauma patients. Methods We conducted an observational retrospective cohort study with data collected at hospital admission of consecutive multiple trauma patients from September 2020 to February 2022 at a regional level 1 trauma center. We performed a receiving operator characteristic curve analysis to determine the ability of the SEER device to detect blood coagulation test abnormalities. Four values on the SEER device were analyzed: clot formation time, clot stiffness (CS), platelet contribution to CS, and fibrinogen contribution to CS. Results A total of 156 trauma patients were analyzed. The clot formation time value predicted an activated partial thromboplastin time ratio of >1.5 with an area under the curve (AUC) of 0.93 (95% CI, 0.86-0.99). The AUC of the CS value in detecting an international normalized ratio of prothrombin time of >1.5 was 0.87 (95% CI, 0.79-0.95). The AUC of fibrinogen contribution to CS to detect a fibrinogen concentration of <1.5 g/L was 0.87 (95% CI, 0.80-0.94). The AUC of platelet contribution to CS to detect a platelet concentration of <50 G/L was 0.99 (95% CI, 0.99-1.00). Conclusion Our results suggest that the SEER device may be useful for the detection of blood coagulation test abnormalities at trauma admission. Essentials • Viscoelastic tests are now part of the management of bleeding in trauma.• Quantra is a viscoelastic test device based on an ultrasonic (sonic estimation of elasticity via resonance [SEER]) analysis of clot formation.• We analyzed the ability of a SEER test to detect blood coagulation test abnormalities in trauma.• The performance of the SEER device was acceptable to detect hypocoagulability thresholds.

Project description:BackgroundChromosomal abnormalities are important causes of ventriculomegaly (VM). In mild and isolated cases of fetal VM, obstetricians rarely give clear indications for pregnancy termination. We aimed to calculate the incidence of chromosomal abnormalities and incremental yield of chromosomal microarray analysis (CMA) in VM, providing more information on genetic counseling and prognostic evaluation for fetuses with VM.MethodsThe Chinese language databases Wanfang Data, China National Knowledge Infrastructure, and China Biomedical Literature Database (from January 1, 1991 to April 29, 2020) and English language databases PubMed, Embase, and Cochrane Library (from January 1, 1945 to April 29, 2020) were systematically searched for articles on fetal VM. Diagnostic criteria were based on ultrasonographic or magnetic resonance imaging (MRI) assessment of lateral ventricular atrium width: ≥10 to <15 mm for mild VM, and ≥15 mm for severe VM. Isolated VM was defined by the absence of structural abnormalities other than VM detected by ultrasonography or MRI. R software was used for the meta-analysis to determine the incidence of chromosomal abnormalities and incremental yield of CMA in VM, and the combined rate and 95% confidence interval (CI) were calculated.ResultsTwenty-three articles involving 1635 patients were included. The incidence of chromosomal abnormalities in VM was 9% (95% CI: 5%-12%) and incremental yield of CMA in VM was 11% (95% CI: 7%-16%). The incidences of chromosomal abnormalities in mild, severe, isolated, and non-isolated VM were 9% (95% CI: 4%-16%), 5% (95% CI: 1%-11%), 3% (95% CI: 1%-6%), and 13% (95% CI: 4%-25%), respectively.ConclusionsApplying CMA in VM improved the detection rate of abnormalities. When VM is confirmed by ultrasound or MRI, obstetricians should recommend fetal karyotype analysis to exclude chromosomal abnormalities. Moreover, CMA should be recommended preferentially in pregnant women with fetal VM who are undergoing invasive prenatal diagnosis. CMA cannot completely replace chromosome karyotype analysis.

Dataset Information

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study.

Background

Objectives

Design and setting

Methods

Results

Conclusions

Publications

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets