Accuracy of prenatal detection of facial clefts and relation between facial clefts, additional malformations and chromosomal abnormalities: a large referral-center cohort.

PURPOSE: Facial clefts belong to the most common congenital malformations and their prenatal diagnosis is a constant challenge. The aim of this study was to determine the accuracy of prenatal ultrasound in correctly classifying facial clefts. Furthermore, we aimed to specify the distribution of the type of clefts and underlying genetic conditions. METHODS: All fetuses seen with suspected facial cleft in the Department of Obstetrics, Charité - Universitätsmedizin Berlin during a period of 23 years (1999-2022) were included in this retrospective study. Clefts were classified according to the classification of Nyberg. All additional prenatal findings were assessed and correlated with the outcome. The accuracy of prenatal diagnosis was assessed. RESULTS: 292 patients were included in the study. The most common type of clefts were unilateral cleft lip and palate (CL-P) (53.6%) and bilateral CL-P (30.6%), followed by CL (8.1%), CP (5.1%) and median CL-P (2.6%). The overall pre- and postnatal concordance rate corresponding to a correct prenatal diagnosis was high, 88.9%, ranging from 73.7% (CL) to 93.7% (unilateral CL-P). Most of the median clefts (95.2%) and CP (93.3%) were associated with other sonographic abnormalities, as well as 52.2% of bilateral CL-P. Chromosomal abnormalities, mostly trisomy 13 and trisomy 18, were observed in in the median CL-P (47.6%), bilateral CL-P (31.1%) and CP (26.7%) groups, in contrast to the CL (9.1%) and unilateral CL-P (12.9%) groups. It was exceptional to have a chromosomal abnormality without additional malformations (4.8%). The mortality rate including one late miscarriage, 5 IUFD's, 74 TOPs and 6 palliative cares at birth was 29.8%, particularly high for median clefts (90.5%). CONCLUSION: Prenatal ultrasound exhibited a high accuracy to assess the type of facial clefts with an average rate of 88.9% (73.7%-93.7%) and a concordance rate of up to 93.7%, depending on the type of cleft. The search for additional malformations as well as clarifying underlying genetic conditions is essential. This allows for a targeted counseling of the parents and to best prepare for postnatal care, including surgery by the maxillofacial team.

A New Modality for Breast Cancer Diagnosis During the COVID-19 Pandemic: A Case Report.

Organized screening for breast cancer (BC) was suspended in most countries of the world during the coronavirus disease-2019 (COVID-19) pandemic. Com-puted tomography (CT) scans of the chest, frequently performed in patients with severe forms of COVID-19, may detect asymptomatic breast abnormalities. A 72-year-old patient, with a severe form of COVID-19 underwent a diagnostic CT scan. This led to the unexpected discovery, at an early stage, of a 12 mm, high grade, Human epidermal growth factor receptor 2 positive BC, with a high proliferation index. After responding to chemotherapy, she was managed with conser-vative breast surgery with sentinel lymph node biopsy. Delayed management of BC can be responsible for poor outcomes. Patients with severe forms of COVID-19 are also at risk for developing BC due to common risk factors. Thirty percent of incidental breast lesions discovered on CT scans are undiagnosed BC. Careful study of the mammary glands on CT scan of patients with COVID-19 may allow early diagnosis of a malignant tumor in a high-risk population for BC and deprived of routine screening mammography.

New Data on the Epidemiology of Breast Implant-Associated Anaplastic Large Cell Lymphoma.

OBJECTIVE: This study aimed to illustrate the epidemiological situation of breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) by focusing on the changes published after 2019 and particularly the new approaches of cosmetic and reconstructive breast surgery. MATERIALS AND METHODS: Article search was performed from January 2019 to date using the PubMed database. Fourteen articles were included in the qualitative evaluation of international data. Moreover, the latest reports regarding the total number of BIA-ALCL cases and number of deaths were identified. RESULTS: Estimates of the risk and incidence have increased significantly recently, affecting 1 in every 2,969 women with breast implants and 1 in 355 patients with textured implants after breast reconstruction. The average exposure time to diagnosis was 8 (range: 0-34) years. Approximately 80% of BIA-ALCL cases were diagnosed at IA-IIA stages, for which the treatment was breast implant removal, full capsulectomy, and excision of all suspected lymph nodes. Globally, at least 949 cases were reported to date. CONCLUSION: At present, BIA-ALCL is an emerging pathology of interest. Data collection initiated since 2016 through different case registration databases is essential to ensure surveillance and to continue to increase the number of studies on this recently discovered pathology.

Effect of acute nitrate and citrulline supplementation on muscle microvascular response to ischemia-reperfusion in healthy humans.

Nitric oxide (NO) is implicated in vasomotor control mechanisms altering the diameter of the vessels under various physiological and pathological conditions. There are 2 main NO production pathways, 1 NO synthase (NOS) independent (nitrate-nitrite-NO) and the other is NOS dependent (citrulline-arginine-NO). The objective of the study was to evaluate the effect of acute nitrate and citrulline supplementation on post-ischemic vascular response in healthy subjects. Fourteen subjects performed 2-leg vascular occlusion tests, 3 days apart. They were randomly assigned to consume a drink containing 1200 mg (19.4 mmol) of nitrate and 6 g of citrulline (N+C) or a placebo (Pl). Changes in total hemoglobin (Hbtot) and oxyhemoglobin (HbO2) concentrations were recorded by near-infrared spectroscopy on the thigh and calf muscles. No differences between N+C and Pl were observed during the ischemic period. Hbtot increased to a larger extent during the reperfusion period for the thigh (e.g., area under the curve, 821 ± 324 vs. 627 ± 381 mmol·s-1, p = 0.003) and the calf (515 ± 285 vs. 400 ± 275 mmol·s-1, p = 0.029) in the N+C versus Pl conditions. Similar results were found regarding HbO2 for the thigh (e.g., area under the curve, 842 ± 502 vs. 770 ± 491 mmol·s-1, p = 0.077) and the calf (968 ± 536 vs. 865 ± 275 mmol·s-1, p = 0.075). The larger postocclusive Hbtot and HbO2 responses observed after N+C intake suggests a greater post-ischemic vasodilation, which may be due to increased NO availability, via the activation of the 2 main NO production pathways.