Preconceptional Counseling in Women with Hyperthyroidism.

Preconception evaluation of couples wishing to conceive is an important step toward a healthy pregnancy and it is especially important in people with a chronic condition or at genetic risk. The most common endocrine disorders in women at reproductive age are those involving the thyroid gland and it is well recognized that hyperthyroidism (HT), over-function of the thyroid gland, is associated with risks of maternal, fetal, and neonatal complications. The aim of this paper is to review the latest evidence regarding the components of preconception counseling in women with HT that contemplate a pregnancy. We also want to raise awareness among healthcare professionals about the importance of periconceptional counseling in improving pregnancy outcomes and avoid maternal and fetal complications related to thyroid dysfunction. In women with Graves' disease seeking pregnancy, it is essential to discuss all the treatment options along with the associated risks and benefits. Extensive prospective studies are still needed to understand the implications of current recommended strategies for the management of HT in preconception and during pregnancy.

Beyond Weight Loss: A Comprehensive Review of Pregnancy Management following Bariatric Procedures.

The increasing prevalence of bariatric surgery among women of childbearing age raises critical questions about the correct management of pregnancy following these procedures. This literature review delves into the multifaceted considerations surrounding pregnancy after bariatric surgery, with a particular focus on the importance of preconception counselling, appropriate nutrition assessment, and the necessity of correct folic acid supplementation. Key areas of investigation include nutrient absorption challenges, weight gain during pregnancy, and potential micronutrient deficiencies. Examining the relationship between bariatric surgery and birth defects, particularly heart and musculoskeletal issues, uncovers a twofold increase in risk for women who underwent surgery before pregnancy, with the risk emphasized before folic acid fortification. In contrast, a nationwide study suggests that infants born to mothers with bariatric surgery exhibit a reduced risk of major birth defects, potentially associated with improved glucose metabolism. In addition, this review outlines strategies for managing gestational diabetes and other pregnancy-related complications in individuals with a history of bariatric surgery. By synthesizing existing literature, this paper aims to provide healthcare providers with a comprehensive framework for the correct management of pregnancy in this unique patient population, promoting the health and well-being of both mother and child.

Prenatal Features of MIRAGE Syndrome-Case Report and Review of the Literature.

MIRAGE syndrome is a recently described congenital condition characterized genetically by heterozygous gain-of-function missense mutations in the growth repressor sterile alpha domain containing 9 (SAMD9) located on the arm of chromosome 7 (7q21.2). The syndrome is rare and is usually diagnosed in newborns and children with myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, hence the acronym MIRAGE. The aims of this paper are (1) to present fetal ultrasound features in a case where MIRAGE syndrome was diagnosed prenatally and (2) to review the existing literature records on prenatal manifestations of MIRAGE syndrome. In our case, the fetus had severe early fetal growth restriction (FGR) with normal Doppler studies, atypical genitalia, oligohydramnios, and hyperechogenic bowel at the routine mid-gestation anomaly scan. Amniocentesis excluded infections and numeric or structural chromosomal abnormalities while whole exome sequencing (WES) of the fetal genetic material identified the specific mutation. Targeted testing in parents was negative, suggesting the "de novo" mutation in the fetus. We could not identify other specific case reports in the literature on the prenatal diagnosis of MIRAGE syndrome. In cases reported in the literature where the diagnosis of MIRAGE syndrome was achieved postnatally, there are mentions related to the marked FGR on prenatal ultrasound. Severe early-onset FGR with no other apparent cause seems to be a central prenatal feature in these babies, and WES should be offered, especially if there are other structural abnormalities. Prenatal diagnosis of MIRAGE syndrome is possible, allowing for reproductive choices, improved counseling of parents, and better preparation of neonatal care.

Body Stalk Anomaly.

Abdominal wall defects encompass three primary classifications: gastroschisis, omphalocele and anomalies resembling body stalk. Potential causative factors include early amnion rupture, amniotic bands, vascular disruptions or abnormal folding of the embryo. The prevalence of these defects stands at 1 in 14,000 live births. Body stalk anomaly is characterized by a substantial abdominal defect coupled with spine and limb anomalies, along with a very short or absent umbilical cord. We present a case of a rare abdominal defect known as body stalk anomaly, the most severe form of this spectrum of diseases. The diagnosis of this anomaly was established during the first trimester of pregnancy. Subsequently, the patient opted for pregnancy termination and chose not to undergo genetic testing. The anatomo-pathological results confirmed the findings. Body stalk anomaly is not compatible with life; therefore, early identification and understanding the clinical implications of this rare anomaly for informed decision-making in prenatal care are very important.

Bilateral Renal Ectopia-Prenatal Diagnosis.

This report explores the diverse spectrum of congenital anomalies of the kidney and urinary tract (CAKUT), ranging from asymptomatic presentations to the most severe form characterized by bilateral renal agenesis. Genitourinary anomalies, a prevalent subset within this domain, account for a significant proportion, constituting 15-20% of anomalies identified during prenatal screening. An ectopic kidney is defined by the presence of an empty renal fossa and the displacement of the kidney from the lumbar region to alternative locations, with the pelvic region emerging as the most prevalent site. The reported case involves bilateral renal ectopia with unilateral duplex kidney. Initial suspicions of a renal anomaly arose during the first trimester, leading to a definitive diagnosis in the second trimester. The patient underwent regular monitoring every four weeks, ultimately delivering a healthy baby at term. This case underscores the frequency of renal anomalies, emphasizing that a considerable proportion remains asymptomatic. These findings contribute to a broader understanding of congenital renal anomalies, their varied manifestations, and the importance of vigilant prenatal screening for early detection and management.

Congenital Cytomegalovirus-Related Hearing Loss.

Congenital hearing loss is a significant global health concern that affects millions of newborns and infants worldwide, posing substantial challenges for affected individuals, their families, and healthcare systems. This condition, present at birth, can stem from genetic factors, in utero exposures, infections, or complications during pregnancy or childbirth. The spectrum of congenital hearing loss ranges from mild to profound, impacting the development of speech, language, and cognitive skills, thereby influencing educational achievements, social integration, and future employment opportunities. Early detection and intervention strategies, such as newborn hearing screenings, genetic counseling, and the use of hearing aids or cochlear implants, are crucial for mitigating these impacts. This review article aims to explore the diagnostic approaches and management strategies for congenital cytomegalovirus-related hearing loss, emphasizing the importance of interdisciplinary care and the potential for technological advances to improve outcomes for affected individuals.

Implications of using artificial intelligence in the diagnosis of sepsis/sepsis shock.

Introduction: Sepsis and septic shock represent severe pathological states, characterized by the systemic response to infection, which can lead to organ dysfunction and high mortality. Early diagnosis and rapid intervention are crucial for improving survival chances. However, the diagnosis of sepsis is complex due to its nonspecific symptoms and the variability of patient responses to infections. Methods: The objective of this research was to analyze the implications of using artificial intelligence (AI) in the diagnosis of sepsis and septic shock. The research method applied in the analysis of the implications of using artificial intelligence (AI) in the diagnosis of sepsis and septic shock is the literature review. Results: Among the benefits of using AI in the diagnosis of sepsis, it is noted that artificial intelligence can rapidly analyze large volumes of clinical data to identify early signs of sepsis, sometimes even before symptoms become evident to medical staff. AI models can use predictive algorithms to assess the risk of sepsis in patients, allowing for early interventions that can save lives. AI can contribute to the development of personalized treatment plans, adapting to the specific needs of each patient based on their medical history and response to treatment. The use of patient data to train AI models raises concerns regarding data privacy and security. Conclusions: Artificial intelligence has the potential to revolutionize the diagnosis and treatment of sepsis, offering powerful tools for early identification and management of this critical condition. However, to realize this potential, close collaboration between researchers, clinicians, and technology developers is necessary, as well as addressing ethical and implementation challenges.

Amniotic Band Syndrome-Prenatal Diagnosis.

This is a case of a fetus affected by an amniotic band detected at 20 weeks of gestation. A presumptive diagnosis was made based on the ultrasound features. The ultrasound showed an abnormally developed right lower limb and no other associated fetal abnormalities. The unilaterality of the defect decreases the chances of genetic abnormality or an early vascular insult. The postnatal examination of the newborn concluded that the prenatal diagnosis was right.