Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.

Kenny-Caffey syndrome type 2 (KCS2) and osteocraniostenosis (OCS) are allelic disorders caused by heterozygous pathogenic variants in the FAM111A gene. Both conditions are characterized by gracile bones, characteristic facial features, hypomineralized skull with delayed closure of fontanelles and hypoparathyroidism. OCS and KCS2 are often referred to as FAM111A-related syndromes as a group; although OCS presents with a more severe, perinatal lethal phenotype. We report a novel FAM111A mutation in a fetus with poorly ossified skull, proportionate long extremities with thin diaphysis, and hypoplastic spleen consistent with FAM111A-related syndromes. Trio whole exome sequencing identified a p.Y562S de novo missense variant in the FAM111A gene. The variant shows significant similarity to other reported pathogenic mutations fitting proposed pathophysiologic mechanism which provide sufficient evidence for classification as likely pathogenic. Our report contributed a novel variant to the handful of OCS and KCS2 cases reported with pathogenic variants.

Does Laparoscopic Hysterectomy Increase the Risk of Vaginal Cuff Dehiscence? An Analysis of Outcomes from Multiple Academic Centers and a Review of the Literature.

Vaginal cuff dehiscence represents a serious, but infrequent complication after hysterectomy, with a reported increased incidence following a laparoscopic approach. Various risk factors have been proposed including laparoscopically placed suture, surgical experience, use of electrosurgery, surgical indication, and obesity. Technical aspects of the procedure itself have also been questioned such as the variable use of monopolar electrosurgery during colpotomy and the suture type or number of layers chosen to reapproximate the vaginal cuff. Nothwithstanding the tendency for cuff dehiscence to occur following laparoscopic approach, there remains a paucity of high-quality data that supports or refutes this finding or clearly defines the mechanism(s) by which this event occurs allowing for the proposal of objective guidelines for reducing risk. Various techniques have been proposed to decrease the risk of vaginal cuff dehiscence during endoscopic hysterectomy, including use of monopolar current on cutting mode, achievement of cuff hemostasis with sutures rather than electrocoagulation, use of a two-layer cuff closure with polydioxanone suture, and use of bidirectional barbed suture for cuff closure. The authors experience at three university-based minimally invasive gynecologic surgery programs showed a low rate of vaginal cuff dehiscence in their own practices. Large randomized controlled trials are needed to truly determine whether there is a difference in vaginal cuff dehiscence between surgical modalities for hysterectomy as well as to determine the true risk factors.

Positive interferon-γ release assay leading to a diagnosis of Mycobacterium tuberculosis pericarditis in pregnancy.

BACKGROUND: Tuberculosis during pregnancy is associated with increased complications. The wide range of presentations among patients with extrapulmonary tuberculosis can make diagnosis and treatment difficult. CASE: We present the case of a patient with Mycobacterium tuberculosis pericarditis presenting in pregnancy with recurrent pericardial effusions. The diagnosis of active tuberculosis was made and treatment initiated after a positive interferon-gamma release assay and granulomatous pericardial pathology despite negative tuberculin skin testing. Culture of pericardial tissue obtained by pericardectomy confirmed the diagnosis 1 month after initiation of treatment. CONCLUSION: This case report demonstrates the use of interferon-gamma release assay in diagnosing tuberculosis among high-risk pregnant patients. Although limited by expense and minimal experience in pregnancy, these assays may be useful to screen for tuberculosis in high-risk pregnant populations.