AJP Reports最新文献

Necrotizing fasciitis (NF) is a rare but life-threatening disease characterized by rapidly spreading inflammation and subsequent necrosis of the fascial planes and surrounding tissues. Limited literature has described NF as involving an adjacent solid organ beyond fascial planes that has required its removal. We present a case of a 25-year-old white female who underwent a cesarean section and subsequently developed NF involving her uterus and abdominal wall that necessitated a total abdominal hysterectomy, serial surgical debridement of necrotic tissue, and wound vacuum assisted closure (VAC) placement. Her pathology report described her uterus infiltrated by polybacteria, confirming a diagnosis of NF. Despite NF's progressive nature and potential lethality, NF can be challenging to diagnose clinically due to a lack of pathognomonic signs and symptoms. However, early detection of NF with the aid of Laboratory Risk Indicator for Necrotizing Fasciitis score calculation using laboratory values such as white blood cell count, hemoglobin, sodium, glucose, serum creatinine, and C-reactive protein is critical for optimal patient outcomes. A multidisciplinary team approach is vital in treating these patients to debride necrotizing tissue and control the potential sequelae from the infection, particularly for postpartum patients.

Background  The rhesus factor D (RhD)-negative patients who give birth to an RhD-positive newborn or who are otherwise exposed to RhD-positive red blood cells are at risk of developing anti-D antibodies. These antibodies may cause hemolytic disease of the fetus and newborn (HDFN). During pregnancy, prevention of alloimmunization is completed with a Rho(D) immune globulin (RhIg). Cases  We report two cases, where obese patients developed alloimmunization, with high neonatal titers, after appropriate RhIG prophylaxis during the index pregnancy. Conclusion  Our cases demonstrate cases of anti D-alloimmunization in an index pregnancy, with high neonatal titers. Both patients are obese, with BMI > 35 mg/m ² . Key Points RhIG can be administered via intramuscular or intravenous formulations. Overall, it appears that both formulations are equally effective. The optimal administration, especially with obese women, is not clearly established.Our cases demonstrate that obesity is a risk factor for failure of RhIG, and could lead to an increase in HDFN.

Introduction  Uterine rupture represents one of the most severe obstetric affections. It is defined as a complete or a partial tearing of the uterine wall. Women with a prior cesarean section are reported to have a higher risk of having this situation. Moreover, maternal death and most of all middle- and long-term adverse consequences remain a great preoccupation. On another scale, neonatal death and ulterior deterioration remain very high, especially in low-income countries. Case Description  A 24-year-old woman with a history of previous cesarean section presented at 35 weeks of gestation with pelvic pain without bleeding. Emergency cesarean section revealed a complete uterine rupture at the scar site from the previous cesarean section. Remarkably, the fetus managed to seal the rupture using the right temporal region, forearm, and right leg, avoiding significant complications. The mother had an uncomplicated postoperative course and was discharged after 48 hours of surveillance. Conclusion  We present with this case an extraordinary case of a uterine rupture where both mother and child had a good outcome. This rare evolution was reported only one time in literature. For this reason, a history of caesarean delivery might present a huge challenge for obstetricians and neonates.

Introduction  Osteogenesis imperfecta (OI) is the most common monogenic inherited skeletal dysplasia disorder. Mutations in the COL1A1/COL1A2 gene cause ∼85 to 90% of OI. Studies of cases have demonstrated that missense mutations are the primary cause of OI, with poor prognosis. Case Description  We report the case of a fetus with skeletal abnormalities and subcutaneous edema. Ultrasound imaging revealed suspected skeletal malformations, including hypoplastic long bones of all four limbs, poorly ossified calvarium, unrevealing nasal bones, and generalized subcutaneous edema. Whole-exome sequencing revealed a heterozygous mutation in COL1A1 (c.2174G > T/p.(G725V), NM_000088.3). According to the American College of Medical Genetics and Genomics guidelines, it was determined to be a pathogenic variant and identified as a de novo variant (PS2 + PP3_strong + PM2_supporting), which has not been reported in the HGMD, gnomAD, ClinVar, or other databases. This variation causes a glycine-to-valine substitution at position 725, located within the Gly-Xaa-Yaa repeat in the helical domain of the collagen molecule. Conclusion  The COL1A1 mutation (c.2174G > T/p.(G725V), NM_000088.3) is a novel pathogenic variant of severe OI. Our study expanded the OI COL1A1 gene variation profiles in the Chinese population and provided a theoretical foundation for prenatal diagnosis, genetic counseling, and obstetric management.

Background  TRAP sequence occurs in monochorionic pregnancies consisting of one normal fetus and a non-viable fetus. The pump twin has an increased risk of developing high-output cardiac failure. Case  32-year-old G4P2012 with TRAP syndrome in current pregnancy presented to triage at 26 weeks with contractions and spotting. She had undergone RFA for selective reduction at another facility. Placental abruption was suspected and patient underwent a cesarean section. Twin A was delivered alive although she subsequently succumbed due to complications of prematurity. Conclusion  This case highlights the importance of early detection and consistent prenatal care in the management of TRAP sequence. Further research of interventions associated with improved outcomes should be encouraged.

Objective  The primary purpose of this study was to assess the practicability of predeposit autologous blood donation (PABD) in the practice of Rh(D)-negative pregnant women. Materials and Methods  A cohort of 405 Rh(D)-negative pregnant women who had a delivery in the comprehensive tertiary hospital in Nanjing was analyzed retrospectively, over 10 years. Results  After PABD, 203 women experienced a slight drop in mean hemoglobin of 5.32 ± 0.5 g/L (PABD-associated anemia was not featured in our study). Thirteen women who received allogeneic blood might benefit from PABD practically. Conclusion  PABD is applicable for Rh(D)-negative pregnant women, as it ensures the availability of the patient's blood in the event of perinatal hemorrhage, thus minimizing the need for transfusion from external sources. Despite the autologous blood reinfusion of low proportion, PABD could still serve as an alternative when allogeneic blood resources are scarce. However, one challenge in the future is to identify candidates who may benefit most from PABD. Also, more attention is needed to raise awareness of patient blood management. Recommended strategies include early screening and treatment of anemia, hemostasis promotion, and blood loss reduction. Replacement of allogeneic transfusion with autotransfusion could be referred to where feasible. We believe that PABD still has a promising potential for application in Rh(D)-negative pregnant women.

We present a case of a vein of Galen aneurysmal malformation (VGAM), a rare congenital arteriovenous malformation, in one fetus of a monochorionic-diamniotic twin pregnancy. The diagnosis was made with color Doppler ultrasonography at 28 weeks and the affected fetus was found to have worsening cardiomegaly on subsequent fetal echocardiograms. She was emergently delivered at 32 weeks for abnormal fetal heart rate tracing of the affected twin. Magnetic resonance imaging of the brain findings after delivery demonstrated severe neurological injury; therefore, postnatal embolization was not performed. The neonate died on day of life 9. The cotwin survived without neurological complications. This is the first case in the literature of a VGAM diagnosed prenatally in a monochorionic-diamniotic twin pregnancy and demonstrates the challenge of delivery timing with prenatal diagnosis in a twin pregnancy.

Congenital umbilical cord hernia is often misdiagnosed and easily confused with a small omphalocele. It is different from postnatally diagnosed umbilical hernias and is believed to arise from persistent physiological mid-gut herniation. Its incidence is estimated to be 1 in 5,000, although some articles reported the incidence rate of approximately 0.2%. It is very important to clearly diagnose these cases in the antenatal period so that the patients receive appropriate management postnatally and to decrease the stress in the parents as well. Umbilical cord hernias have not been associated with other chromosomal anomalies. In this article, we describe a case of a patient who was diagnosed with an umbilical cord mass for which the course prenatally and postnatally was uncomplicated. It is very important to avoid misdiagnosing these cases, so that patients are appropriately treated in the postnatal course and to prevent complications such as bowel injury during cord clamping.

Aims  To describe the autonomic function of premature infants born between 28 and 32 weeks of gestation, without medical risk factors, at the age of 3 to 5 years and to assess whether it's possible to predict the appearance of autonomic deficits in these children at this age range. Methods  This follow-up study included 40 out of 55 premature infants born between weeks 28 and 32 during 2018 to 2020. During 2022 to 2023 parents were asked to report on medical and developmental follow-up and treatment, functional characteristics of the autonomic system, and the age at which walking was achieved. Results  Approximately 27% of the participants (11 out of 40) presented autonomic symptoms at 3 to 5 years of age. A predictive relationship was noted between the function of the heart rate control system near birth and the presence of autonomic dysfunctions at ages 3 to 5. Fourteen of 40 children received neurodevelopmental treatments. However, children with autonomic symptoms were not treated for their symptoms. Conclusion  These preliminary findings provide valuable insights into the autonomic function of children born premature and the potential predictive relationship between early autonomic measures and later autonomic dysfunctions. It also highlights the need for increased awareness and intervention strategies for addressing autonomic issues in premature infants to support their overall well-being.

Introduction  Congenital malformations of the right atrium are rare heart defects with only a few cases described prenatally. Early diagnosis of these anomalies is becoming increasingly important for proper follow-up and due to the possibility of serious complications such as supraventricular arrhythmia, thromboembolic events, and sudden death. Objective  The atrial appendage aneurysm (AAA) is a dilatation of the atrial appendage. It is considered an extremely rare congenital anomaly. However, this condition is clinically significant because it leads to atrial arrhythmias, recurrent emboli, heart failure, and chest pain. In addition, it is possible to recognize AAA prenatally with fetal echocardiography, even if it rarely happens. However, few fetal AAA cases have been reported in the literature. Study Design  We report a case of a fetal AAA; diagnosed prenatally and with postnatal confirmation. We undertook a systematic review of studies on fetal AAA to synthesize available knowledge on diagnosing and managing this rare condition. Results  A total of eight studies describing 24 patients were identified and analyzed. Conclusion  Despite their rarity, fetal atrial appendage aneurysms necessitate early detect on due to associated severe complications. Our findings emphasize the importance of prenatal diagnosis through fetal echocardiography and highlight the need for further research to optimize management strategies and improve outcomes for affected individuals.