OBJECTIVES: To prospectively validate the diagnostic performance of a non-invasive point-of-care tool (Rapid IAI System), including vaginal alpha-fetoprotein and interleukin-6, to predict the occurrence of intra-amniotic inflammation in a Spanish cohort of patients admitted with a diagnosis of preterm labor and intact membranes. METHODS: From 2017 to 2022, we prospectively evaluated a cohort of pregnant women diagnosed with preterm labor and intact membranes admitted below 34+0 weeks who underwent amniocentesis to rule-in/out intra-amniotic infection and/or inflammation. Vaginal sampling was performed at the time of amniocentesis or within 24-48 h. Amniotic fluid IL-6, vaginal alpha-fetoprotein and vaginal IL-6 concentrations were measured using a point-of-care tool provided by Hologic Inc., "Rapid IAI System". We defined intra-amniotic inflammation when amniotic fluid IL-6 values were greater than 11.3 ng/mL. During recruitment, clinicians were blinded to the results of the point-of-care tool. The original prediction model proposed by Hologic Inc. to predict intra-amniotic inflammation was validated in this cohort of patients. RESULTS: We included 151 patients diagnosed with preterm labor and intact membranes. Among these, 29 (19.2 %) had intra-amniotic inflammation. The algorithm including vaginal IL-6 and alpha-fetoprotein showed an area under curve to predict intra-amniotic inflammation of 80.3 % (±5.3 %) with a sensitivity of 72.4 %, specificity of 84.6 %, positive predictive valuve (PPV) of 52.5 %, negative predictive value (NPV) of 92.9 %, and a positive likelihood ratio (LR+) of 4.6 and negative likelihood ratio (LR-) of 0.33. CONCLUSIONS: External validation of a non-invasive rapid point-of-care tool, including vaginal alpha-fetoprotein and IL-6, showed very good diagnostic performance for predicting the absence of intra-amniotic inflammation in women with preterm labor and intact membranes.

• MeSH
• alpha-Fetoproteins * analysis   metabolism   MeSH
• Amniocentesis methods   MeSH
• Chorioamnionitis * diagnosis   MeSH
• Adult MeSH
• Risk Assessment methods   MeSH
• Interleukin-6 * analysis   blood   metabolism   MeSH
• Humans MeSH
• Amniotic Fluid * metabolism   chemistry   MeSH
• Point-of-Care Testing MeSH
• Obstetric Labor, Premature * diagnosis   MeSH
• Predictive Value of Tests MeSH
• Prospective Studies MeSH
• Pregnancy MeSH
• Vagina metabolism   MeSH
• Point-of-Care Systems MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Validation Study MeSH

Fourth branchial cleft anomalies are rare head and neck congenital lesions seen in children. They present as a neck inflammatory mass and arise essentially on the left side of the neck. We report the case of a 7-month-old female with a mass of the neck associated with respiratory distress. The mass was diagnosed as an incomplete fourth branchial cleft fistula. Surgical revision of the neck abscess from an external approach and plasma coblation of the orifice in the pyriform fossa by an endoscopic approach were performed.

• MeSH
• Abscess surgery   MeSH
• Branchial Region * abnormalities   surgery   MeSH
• Infant MeSH
• Craniofacial Abnormalities surgery   MeSH
• Neck abnormalities   surgery   pathology   MeSH
• Medical Illustration MeSH
• Humans MeSH
• Pharyngeal Diseases MeSH
• Fistula surgery   MeSH
• Check Tag
• Infant MeSH
• Humans MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH
• Review MeSH

Tento článek pojednává o vzácném metastatickém projevu nádorových abdominopelvických onemocnění, který se nazývá nodul sestry Marie Josefy. Jedná se o kožní metastázu do umbilikální krajiny, která byla poprvé popsaná již před téměř 200 lety. I když se jedná o vzácný úkaz, neměl by být opomínán při diferenciální diagnostice rezistencí v umbiliku. Součástí článku jsou také dvě kazuistiky.

This is a short review about a rare metastatic physical finding of abdomino-pelvic malignancies that is called Sister Mary Joseph’s nodule. It is cutaneous metastasis in the umbilical region and it was first used almost 200 years ago. Even though it is a rare finding, we should not forget it in the differential diagnosis of umbilical nodules. The article also includes two case reports.

• MeSH
• Middle Aged MeSH
• Humans MeSH
• Abdominal Neoplasms surgery   complications   MeSH
• Skin Neoplasms surgery   diagnosis   secondary   MeSH
• Pelvic Neoplasms surgery   complications   MeSH
• Umbilical Cord pathology   MeSH
• Sister Mary Joseph's Nodule * surgery   history   diagnosis   MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Female MeSH
• Publication type
• Case Reports MeSH

Syncytin-1 and Syncytin-2 are envelope glycoproteins encoded by human endogenous retroviruses that have been exapted for the fusion of cytotrophoblast cells into syncytiotrophoblasts during placental development. Pregnancy complications like preeclampsia are associated with altered expression of interferon-stimulated genes, including guanylate-binding protein 5 (GBP5). Here, we show that misdirected antiviral activity of GBP5 impairs processing and activation of Syncytin-1. In contrast, the proteolytic activation of Syncytin-2 is not affected by GBP5, and its fusogenic activity is only modestly reduced. Mechanistic analyses revealed that Syncytin-1 is mainly cleaved by the GBP5 target furin, whereas Syncytin-2 is also efficiently processed by the proprotein convertase subtilisin/kexin type 7 (PCSK7) and thus resistant to GBP5-mediated restriction. Mutational analyses mapped PCSK7 processing of Syncytin-2 to a leucine residue upstream of the polybasic cleavage site. In summary, we identified an innate immune mechanism that impairs the activity of a co-opted endogenous retroviral envelope protein during pregnancy and may potentially contribute to the pathogenesis of pregnancy disorders.

• MeSH
• Furin metabolism   MeSH
• Cell Fusion MeSH
• Gene Products, env metabolism   genetics   MeSH
• Humans MeSH
• Placenta * metabolism   cytology   MeSH
• GTP-Binding Proteins * metabolism   genetics   MeSH
• Pregnancy Proteins * metabolism   genetics   MeSH
• Pregnancy MeSH
• Trophoblasts * metabolism   cytology   MeSH
• Check Tag
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

Preterm prelabour rupture of membranes (PPROM) complicated by intra-amniotic inflammation (IAI) represents a substantial proportion of preterm birth cases. Currently, IAI is frequently defined as amniotic fluid IL-6 concentration above 2,600 pg/mL. However, the amniotic fluid IL-6 concentration was never correlated with the global response of other proinflammatory proteins to the ongoing IAI. In this cross-sectional study, protein quantification was performed using mass spectrometry (MS) analysis followed by target quantification of selected proinflammatory proteins. Levels of amniotic fluid proteins determined by MS were put into the correlation with IL-6 concentration determined by electrochemiluminescence immunoassay method (ECLIA). In total, 925 proteins were efficiently quantified and differential expression analysis revealed 378 proteins upregulated towards IL-6 concentration above 10,000 pg/mL. Four proteins (LCN2, MMP8, MPO, and S100A12) were selected to verify the achieved results and IL-6 concentration of 10,000 pg/mL was determined as the cut-off value for global IAI response.

• MeSH
• Biomarkers metabolism   MeSH
• Chorioamnionitis * metabolism   MeSH
• Adult MeSH
• Interleukin-6 metabolism   MeSH
• Humans MeSH
• Amniotic Fluid * metabolism   MeSH
• Fetal Membranes, Premature Rupture * metabolism   pathology   MeSH
• S100A12 Protein metabolism   MeSH
• Cross-Sectional Studies MeSH
• Pregnancy MeSH
• Inflammation * metabolism   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

Hair follicle development is initiated by reciprocal molecular interactions between the placode-forming epithelium and the underlying mesenchyme. Cell fate transformation in dermal fibroblasts generates a cell niche for placode induction by activation of signaling pathways WNT, EDA, and FGF in the epithelium. These successive paracrine epithelial signals initiate dermal condensation in the underlying mesenchyme. Although epithelial signaling from the placode to mesenchyme is better described, little is known about primary mesenchymal signals resulting in placode induction. Using genetic approach in mice, we show that Meis2 expression in cells derived from the neural crest is critical for whisker formation and also for branching of trigeminal nerves. While whisker formation is independent of the trigeminal sensory innervation, MEIS2 in mesenchymal dermal cells orchestrates the initial steps of epithelial placode formation and subsequent dermal condensation. MEIS2 regulates the expression of transcription factor Foxd1, which is typical of pre-dermal condensation. However, deletion of Foxd1 does not affect whisker development. Overall, our data suggest an early role of mesenchymal MEIS2 during whisker formation and provide evidence that whiskers can normally develop in the absence of sensory innervation or Foxd1 expression.

• MeSH
• Neural Crest MeSH
• Forkhead Transcription Factors metabolism   genetics   MeSH
• Homeodomain Proteins * metabolism   genetics   MeSH
• Mesoderm * metabolism   MeSH
• Mice MeSH
• Trigeminal Nerve * MeSH
• Vibrissae * innervation   growth & development   embryology   MeSH
• Gene Expression Regulation, Developmental MeSH
• Animals MeSH
• Check Tag
• Mice MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH

Limited knowledge exists on persistent organic pollutants (POPs), including polychlorinated biphenyls (PCBs) and organochlorine pesticides (OCPs), in mother-child pairs from Northern Finland. This study examines plasma PCB and OCP concentrations and their determinants. Blood plasma concentrations of 13 PCBs and 6 OCPs were measured in mothers and in cord samples from the NUGEN birth cohort (N = 102, 2012-2014). Correlations between maternal and cord POPs were assessed using Spearman correlation, and linear regression identified factors influencing lipid-adjusted POPs. Maternal age and alcohol consumption during pregnancy were positively associated with PCBs and OCPs. Pre-pregnancy BMI and weight change during pregnancy were inversely associated with PCBs, but positively with p,p'-DDE in children. Increasing parity and smoking were associated with lower PCBs. Maternal fish consumption was associated with higher PCBs in children. Finnish pregnant women had lower PCBs and OCPs than other European populations. These findings inform exposure risk assessment and prevention strategies.

• MeSH
• Hydrocarbons, Chlorinated * blood   MeSH
• Child MeSH
• Adult MeSH
• Fetal Blood chemistry   MeSH
• Cohort Studies MeSH
• Environmental Pollutants * blood   MeSH
• Humans MeSH
• Maternal Exposure * MeSH
• Young Adult MeSH
• Infant, Newborn MeSH
• Pesticides * blood   MeSH
• Polychlorinated Biphenyls * blood   MeSH
• Pregnancy MeSH
• Prenatal Exposure Delayed Effects MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Humans MeSH
• Young Adult MeSH
• Male MeSH
• Infant, Newborn MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Finland MeSH

Fibroblasts, the most abundant cell type in the human body, play crucial roles in biological processes such as inflammation and cancer progression. They originate from the mesoderm or neural-crest-derived ectomesenchyme. Ectomesenchyme-derived fibroblasts contribute to facial formation and do not express HOX genes during development. The expression and role of the HOX genes in adult fibroblasts is not known. We investigated whether the developmental pattern persists into adulthood and under pathological conditions, such as cancer. We collected adult fibroblasts of ectomesenchymal and mesodermal origins from distinct body parts. The isolated fibroblasts were characterised by immunocytochemistry, and their transcriptome was analysed by whole genome profiling. Significant differences were observed between normal fibroblasts from the face (ectomesenchyme) and upper limb (mesoderm), particularly in genes associated with limb development, including HOX genes, e.g., HOXA9 and HOXD9. Notably, the pattern of HOX gene expression remained consistent postnatally, even in fibroblasts from pathological tissues, including inflammatory states and cancer-associated fibroblasts from primary and metastatic tumours. Therefore, the distinctive HOX gene expression pattern can serve as an indicator of the topological origin of fibroblasts. The influence of cell position and HOX gene expression in fibroblasts on disease progression warrants further investigation.

• MeSH
• Adult MeSH
• Fibroblasts * metabolism   cytology   MeSH
• Genes, Homeobox MeSH
• Homeodomain Proteins metabolism   genetics   MeSH
• Cells, Cultured MeSH
• Humans MeSH
• Mesoderm * metabolism   cytology   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

OBJECTIVES: To analyze the prevalence and severity of fetal aortic regurgitation (AR) after undergoing successful fetal aortic valvuloplasty (FAV) and to evaluate its effects on fetal circulation and left ventricular (LV) growth. METHODS: This was a retrospective review of all fetuses with critical aortic stenosis who underwent successful FAV at our center between 2010 and 2024 for whom postnatal echocardiograms were available in digital format. Fetal and postnatal echocardiographic examinations were analyzed for ventricular and valvular dimensions and characteristics, and Z-scores were calculated for middle cerebral artery (MCA) pulsatility index (PI), umbilical artery (UA) PI and cerebroplacental ratio. AR severity was classified into no/mild AR or significant (moderate/severe) AR. The balloon-to-aortic valve ratio (BVR) was calculated as the ratio between the maximum actual balloon diameter and the aortic valve (AV) annulus diameter. The primary endpoints of this study were the prevalence, severity and risk factors for fetal AR following successful FAV. RESULTS: Ninety-nine fetuses who underwent successful FAV were included. Immediate post-FAV echocardiograms showed that 87% of fetuses developed some degree of AR, including 45% of all fetuses with significant AR. BVR was significantly higher in fetuses with significant AR compared to those with no/mild AR (mean, 1.09 (95% CI, 1.06-1.12) vs 1.02 (95% CI, 0.99-1.04); P < 0.001). In a subgroup of 66/99 fetuses with available postnatal echocardiograms, the prevalence of AR decreased significantly from 86% before birth to 58% after birth (P < 0.001), with the proportion of fetuses with significant AR reducing from 47% before birth to 17% after birth (P < 0.001). In the overall cohort of fetuses, AV maximum velocity (Vmax) increased significantly from post-FAV to after birth (mean, 1.93 (95% CI, 1.75-2.11) m/s vs 3.21 (95% CI, 2.89-3.55) m/s; P < 0.001), regardless of AR severity, but Vmax after birth was lower in the significant-AR group compared with the no/mild-AR group (mean, 2.85 m/s vs 3.55 m/s; P = 0.020). Fetuses with significant AR exhibited higher relative LV length increases from immediately post-FAV to after birth than did those with no/mild AR (25% (95% CI, 16-33%) vs 14% (95% CI, 6-21%); P = 0.044), although there was no significant difference in mean LV length Z-score after birth between the two groups. FAV led to significant short-term increases in MCA-PI and UA-PI Z-scores, with greater increases observed in fetuses with significant AR. CONCLUSIONS: FAV is associated with a high prevalence of fetal AR, which lessens in severity over the course of gestation. Significant fetal AR had the largest association with greater BVR and had significant impact on fetal hemodynamics. © 2025 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

• MeSH
• Aortic Valve diagnostic imaging   embryology   MeSH
• Aortic Valve Insufficiency * diagnostic imaging   epidemiology   physiopathology   MeSH
• Aortic Valve Stenosis diagnostic imaging   embryology   epidemiology   physiopathology   MeSH
• Balloon Valvuloplasty * MeSH
• Adult MeSH
• Echocardiography methods   MeSH
• Fetal Heart diagnostic imaging   physiopathology   MeSH
• Gestational Age MeSH
• Humans MeSH
• Fetal Diseases epidemiology   diagnostic imaging   MeSH
• Infant, Newborn MeSH
• Prevalence MeSH
• Retrospective Studies MeSH
• Risk Factors MeSH
• Severity of Illness Index MeSH
• Pregnancy MeSH
• Ultrasonography, Prenatal * MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Infant, Newborn MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

Investigating prenatal hypoxia is difficult in mammals, as there are confounding factors stemming from maternal adaptations and compensatory mechanisms. We have thus established an avian model of hypoxic incubation (starting after 2 days of normoxia, 15% O2, normobaric, until the time of sampling at embryonic day 8) to study embryonic reactions to low oxygen concentration. Our previous studies have shown increased vascularization, oedema, and ventricular wall thinning preceding the lethality at mid-gestation. Analysis of the cardiac proteome after 6 days of hypoxic incubation showed strong upregulation of enzymes involved in anaerobic glycolysis as well as an increase in apoptosis-related proteins, cell adhesion proteins, and secretory activity.

• MeSH
• Apoptosis MeSH
• Glycolysis MeSH
• Hypoxia * metabolism   MeSH
• Chick Embryo MeSH
• Myocardium metabolism   MeSH
• Proteome metabolism   MeSH
• Proteomics * methods   MeSH
• Heart * embryology   MeSH
• Animals MeSH
• Check Tag
• Chick Embryo MeSH
• Animals MeSH
• Publication type
• Journal Article MeSH