A Comprehensive Review of TRPS1 as a Diagnostic Immunohistochemical Marker for Primary Breast Carcinoma: Latest Insights and Diagnostic Pitfalls.

Background/objectives: Immunohistochemical expression of TRPS1 (trichorhinophalangeal syndrome type 1) protein is usually used by pathologists to confirm breast origin for triple-negative breast cancers (TNBC) or metastatic carcinomas of unknown primary. However, recent studies have reported TRPS1 expression in a variety of non-breast lesions. This review aims to provide a comprehensive evaluation of TRPS1 expression across various tumor types, highlighting both its diagnostic utility and potential pitfalls that may arise in clinical practice.

Fibular hemimelia.

Fibular hemimelia is defined as a partial or complete absence of the fibula. Alongside fibular deformities, there is a wide spectrum of anomalies, foot deformities, and absent rays. A literature review showed only a handful of cases of prenatal diagnosis of fibular hemimelia.

Monochorionic Diamniotic Twins with Bordering Cord Insertions: Images and Outcome.

Twin pregnancy contributes to perinatal mortality, particularly monochorionic diamniotic twin pregnancy. Placental abnormalities are much more common in twin pregnancies than in singletons. In MCDA pregnancy, vascular anastomoses are always present and are accountable for severe complications such as Twin-to-Twin transfusion syndrome (TTTS).

Identification of a New Variant of PUF60 Gene: Case Presentation and Literature Review.

Background/aim: The aim of the study was to report the case of a 5-month-old boy with a complex prenatal and neonatal symptomatology diagnosed with a "de novo" pathogenic variant of PUF60 gene.

Case Report: Our hospital, undertook the antenatal and postnatal care of a 27-year-old pregnant lady. This was her second baby with a previously healthy boy.

Diabetes, pregnancy and spina bifida.

Spina bifida is a disorder characterized by failure of the neural tube to form during embryological development. The early signs in the head and spine may be detected on ultrasound from 11 weeks of gestation. Diabetes is a well-known teratogen factor that increases the chances of birth defects, such as neural tube defects.

Pituitary adenoma apoplexy in pregnancy: Case report and literature review.

Gestational pituitary apoplexy is an extremely rare condition. It is characterised by an unexpected headache, vomiting, nausea, and visual disturbances. Pituitary apoplexy in pregnancy and postpartum is a challenging diagnosis with symptoms overlapping multiple conditions.

Medulloblastoma Presenting as Severe Headache during Pregnancy: A Case Report and Review of the Literature.

Headache is a common complaint during pregnancy and the puerperium. The differentiation between a benign headache and a headache that has an underlying more endangering cause, such as an intracranial tumor, can be difficult and often requires diagnostic procedures and brain imaging techniques. We report the case of an 18-year-old female patient who developed clinical symptoms-persistent headache followed by neurological deficit-in the last part of her pregnancy.

Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review.

Tracheal atresia is an extremely rare condition whereby a partial or total obstruction of the trachea is seen. It is almost always lethal, with just a handful of cases that ended with a good outcome. In this study we report on a 15-week male fetus, diagnosed with hyperechogenic lungs, midline heart position and inverted diaphragm.

Fatal Association of Mirror and Eisenmenger Syndrome during the COVID-19 Pandemic.

Mirror syndrome (MS) or Ballantyne's syndrome is a rare maternal condition that can be life-threatening for both mother and fetus. The condition is characterized by maternal signs and symptoms similar to those seen in preeclampsia in the setting of fetal hydrops. Despite recent advances in the field of maternal-fetal medicine, the etiopathogenesis of MS remains elusive.

Tuberculosis in pregnancy.

Tuberculosis (TB) in pregnancy is not only a matter of the past; it is also a current problem. These days, TB appears through mass migration and tourism in countries where it was believed that this condition is eradicated. Adequate knowledge about the medical history of patients, risk factors, diagnosis and treatment of tuberculosis should be part of the armamentarium of each physician involved in clinical practice.