No abstract

Background: Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility. PPIB pathogenic variants cause a perinatal lethal form of OI type IX. A limited number of pathogenic variants have been reported so far worldwide.Methods: We identified a rare pedigree whose phenotype was highly consistent with OI-IX. Exome sequencing was performed to uncover the causal variants. The variant pathogenicity was classified following the ACMG/AMP guidelines. The founder effect and the age of the variant were assessed.Results: We identified a homozygous missense variant c.509G > A/p.G170D in PPIB in an affected fetus. This variant is a Chinese-specific allele and can now be classified as pathogenic. We estimated the allele frequency (AF) of this variant to be 0.0000427 in a Chinese cohort involving 128,781 individuals. All patients and carriers shared a common haplotype, indicative of a founder effect. The estimated age of variant was 65,160 years. We further identified pathogenic variants of PPIB in gnomAD and ClinVar databases, the conserved estimation of OI type IX incidence to be 1/1,000,000 in Chinese population.Conclusion: We reported a founder pathogenic variant in PPIB specific to the Chinese population. We further provided our initial estimation of OI-IX disease incidence in China.

A tubo-ovarian abscess (TOA) is a common type of inflammatory lump in clinical practice. TOA is an important, life-threatening disease, and it has become more common in recent years, posing a major health risk to women. Broad-spectrum antimicrobial agents are necessary to cover the most likely pathogens because the pathogens that cause TOA are polymicrobial. However, the response rate of antibiotic treatment is about 70%, whereas one-third of patients have poor clinical consequences and they require drainage or surgery. Rising antimicrobial resistance serves as a significant reason for the unsatisfactory medical outcomes. It is important to study the antibiotic resistance mechanism of TOA pathogens in solving the problems of multi-drug resistant strains. This paper focuses on the most common pathogenic bacteria isolated from TOA specimens and discusses the emerging trends and epidemiology of resistant Escherichia coli, Bacteroides fragilis, and gram-positive anaerobic cocci. Besides that, new methods that aim to solve the antibiotic resistance of related pathogens are discussed, such as CRISPR, nanoparticles, bacteriophages, antimicrobial peptides, and pathogen-specific monoclonal antibodies. Through this review, we hope to reveal the current situation of antibiotic resistance of common TOA pathogens, relevant mechanisms, and possible antibacterial strategies, providing references for the clinical treatment of drug-resistant pathogens.

Background Painless bloody nipple discharge is often classified as pathological due to its association with malignant lesions. However, it can also be a completely harmless condition. Rusty pipe syndrome is a rare cause of benign, self-limiting bloody nipple discharge during late pregnancy and early lactation. Given that rusty pipe syndrome is not described in conventional textbooks, we thought it would be appropriate to bring this benign disease to the notice of readers. Case presentation A 31-year-old G1P1 female delivered an infant with a birth weight of 3000 g via cesarean section at 39 weeks of gestation. The baby was admitted to the pediatric intensive care unit for a suspected oblique inguinal hernia. The mother had bilateral painless bloody nipple discharge when she started to express milk. A physical examination uncovered no signs of inflammation, engorgement, palpable mass, tenderness, cracks or ulcers. A breast ultrasound and cytological analysis revealed no signs of a neoplasm. Without any medical intervention, the color of the rusty milk changed from dark brown to light brown during hospitalization and finally resolved six days postpartum. Conclusion Rusty pipe syndrome is a self-limiting benign condition that should be considered in the differential diagnosis of bloody nipple discharge. Awareness of this rare disease by medical professionals would be extremely beneficial for avoiding unneeded examinations and discontinuity of exclusive breastfeeding.

Background: Endometriosis can affect the systemic metabolic indicators, including body mass index, glucose metabolism and lipid metabolism, while the association between metabolic indexes and the occurrence and ART outcome of endometriosis is unclear. We aimed to evaluate the characteristics of systemic metabolic indexes of endometriosis patients with infertility and their effects on pregnancy outcome after ART treatment. Methods:A retrospective cohort study involve 412 endometriosis patients and 1551 controls was conducted. Primary outcome was metabolic indexes, and secondary measures consisted of the influence of metabolic indexes on the number of retrieved oocytes and ART outcomes, as well as the relation between blood glucose and prevalence of GDM. Results:Endometriosis patients had higher INS [6.90(5.10-9.50) vs 6.50(4.80-8.90) μU/mL, P = 0.005]. A prediction model for endometriosis combining the number of previous pregnancies, CA125, fasting blood Glu and INS, had a sensitivity of 73.9%, specificity of 67.8% and area AUC of 0.77. There were no significant differences in ART outcomes and complications. The levels of Glu were associated with GDM both in endometriosis group (aOR 12.95, 95% CI 1.69–99.42; P = 0.014) and in control group (aOR 4.15, 95% CI 1.50–11.53; P = 0.006). Conclusions: Endometriosis patients had abnormal metabolic indexes, in which serum Glu and serum INS are related to the occurrence of endometriosis, the number of retrieved oocytes and the occurrence of GDM. A prediction model based on metabolic indexes was established, representing a promising non-invasive method to predict endometriosis patients with known pregnancy history.