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Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome.

Front Pediatr

January 2025

Henan Provincial Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.

Objective: Our study aimed to collect fetuses with recurrent 1q21.1 deletion or duplication syndrome for systematic clinical phenotype analysis to further delineate the intrauterine phenotype features of the two reciprocal syndromes.

Methods: Prenatal samples, including amniotic fluid and chorionic villus samples, were obtained by amniocentesis and chorionic villus sampling at our center, respectively.

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This case highlights the critical role of early radiological screening by ultrasound in identifying uterine anomalies. In this report, we discuss a 39-year-old pregnant woman, gravida 4 para 3, and her fetus at gestational age 18 weeks. The patient was referred to the Obstetrics and Gynecology Emergency Department at Qatif Central Hospital, Saudi Arabia, from a private hospital due to an ultrasound study indicating a possible ectopic pregnancy with an abdominal fetal location.

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Background The incidence of pregnancy-associated diabetes has increased in recent decades, leading to neonatal adverse outcomes like metabolic and hematologic disorders, respiratory distress, cardiac disorders, and neurologic impairment. Macrosomia, a common consequence of diabetes, is influenced by maternal blood glucose levels, impacting adverse neonatal outcomes. Aim The current study aimed to assess the neonatal and maternal outcomes of the infants of diabetic mothers.

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Social media activism and women's health: Endometriosis awareness and support.

Digit Health

January 2025

William Allen White School of Journalism and Mass Communications, University of Kansas, Lawrence, KS, USA.

Objective: While endometriosis is estimated to affect 1 in 10 women globally, awareness of the disease as well as research and funding to fight the disease remains lacking as compared with other chronic diseases. This study examines how social media users utilized Instagram to raise awareness of and mobilize activism around endometriosis by analyzing prominent topics, word associations, and feminism themes in endometriosis-tagged posts on Instagram.

Methods: We used a mixed-method approach of combining computational analyses (topic modeling and word association) and human coding (qualitative thematic analysis) of Instagram posts on endometriosis.

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Introduction: Restless Legs Syndrome (RLS), also known as Willis-Ekbom Disease (WED), is a sensorimotor disorder characterized by an uncontrollable urge to move the legs, typically accompanied by discomfort. Low iron levels, pregnancy, and age are some identified risk factors. RLS is treated using various pharmacological options, including dopamine agonists, benzodiazepines, anticonvulsants, opioids, and bupropion.

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