AJP Reports最新文献

Background: Congenital adrenal hyperplasia (CAH), predominantly caused by 21-hydroxylase deficiency (21-OHD), arises from mutations in CYP21A2 . This frequently occurs via gene conversion events between CYP21A2 and its pseudogene, leading to impaired 21-hydroxylase activity and subsequent CAH manifestations.

Case description: We encountered a case of classic CAH, characterized by electrolyte imbalances (hyponatremia: 125.10 mmol/L; hyperkalemia: 7.06 mmol/L), hyperpigmentation, and markedly elevated endocrine marker levels (17-hydroxyprogesterone: 319.91 nmol/L; adrenocorticotropic hormone: 611.00 pg/mL) in a male neonate. Through genetic diagnostics, we identified a maternal-derived deletion of CYP21A2 exons 1-7 combined with paternal-originated compound heterozygous mutations (c.293-13A/C>G in intron 2 and c.332_339 deletion in exon 3). Implementation of early genetic diagnosis revealed 21-OHD, and immediate therapeutic intervention was initiated within 11 days after the birth of the patient. Long-term treatment, including oral hydrocortisone, fludrocortisone, and 0.9% sodium chloride, provided effective clinical control and management, as determined by longitudinal follow-up monitoring of serum electrolyte profiles, endocrine function, and physical development.

Conclusion: This case provided critical insights into the genotype-phenotype correlations of classic 21-OHD. Our findings will contribute to precision medicine for managing this rare endocrine disorder during critical infancy periods, and emphasize the need for comprehensive genetic diagnostics and educational values for neonatal 21-OHD care.

Objective: About 2% of full-term neonates are evaluated for fever, with serious bacterial infections (SBIs) identified in roughly 10% of cases. The 2021 American Academy of Pediatrics guideline standardizes febrile neonate evaluation, but factors like phototherapy for hyperbilirubinemia can complicate decisions. Phototherapy-associated hyperthermia raises concern about distinguishing environmental causes from true infection. This study assessed the prevalence of hyperthermia in neonates receiving phototherapy and its association with SBI.

Study design: We performed a retrospective chart review of neonates admitted for phototherapy at a quaternary pediatric hospital (2019-2022). Using International Classification of Diseases codes, we identified patients with hyperthermia (≥38°C) and reviewed whether they underwent SBI evaluation and follow-up within 2 weeks.

Results: Among 639 neonates, 9 (1.4%) developed hyperthermia. Two (22%) were diagnosed with an SBI; one had a negative SBI workup, and six were not further evaluated. None of the seven without SBI returned for care. The 1.4% hyperthermia rate is not higher than the general neonatal fever prevalence (2%).

Conclusion: Hyperthermia during phototherapy is uncommon, but the 22% SBI rate in febrile neonates is noteworthy. Elevated temperatures in this context should not be presumed to be environmental. Clinicians should maintain vigilance and consider full SBI evaluations.

Key points: Consider SBIs in febrile neonates on phototherapy; do not attribute fever to environmental factors.Phototherapy rarely causes fever; while it warms infants, it does not raise fever risk.Standardized approaches reduce variability in fever care.

Objective: To compare severe maternal morbidity (SMM) and mortality after pre- or periviable prelabor rupture of membranes (pPPROM) in multiple gestation pregnancies among individuals choosing expectant management (EM) or termination of pregnancy (TOP).

Study design: A retrospective cohort study of multiple gestations with pPPROM between 14 ^0/7 and 23 ^6/7 at five hospitals within a large health system from 2011 to 2024. The primary outcome was SMM by the Centers for Disease Control (CDCs), 21 indicators compared between the two cohorts. Continuous outcomes were compared with Mann-Whitney U tests. Chi-square/Fisher's exact tests were used for categorical outcomes. Data was analyzed using R.

Results: Forty-five twin and 1 triplet gestations were included ( n  = 37 EM, n  = 9 TOP). There were no differences in gestational age at PPROM, age, race, and history of PPROM. There were no maternal deaths and no differences in chorioamnionitis, sepsis, ICU admission, blood loss, or hospital readmission. Seventy point three percent of patients undergoing EM experienced some form of maternal morbidity, and 27.0% experienced at least one CDC SMM indicator, but this was not different between groups.

Conclusion: One in four individuals with multiple gestations undergoing EM of pPPROM experienced at least one adverse maternal outcome by CDC criteria. There were no significant differences identified between EM and TOP, likely due to the study's limited size.

Key points: More than 70% of multiples with pPPROM electing EM experienced an adverse maternal outcome.There was no difference in maternal morbidity detected between EM and termination.One in four multiples with pPPROM electing EM had a severe adverse maternal outcome.Given disparities in access to termination, understanding maternal risks of pPPROM is critical.

Objective: Cesarean rates are rising in the United States, especially for breech presentations, which complicates 3 to 4% of term pregnancies and contributes to maternal morbidity. Complementary and alternative therapies (CT) like moxibustion, chiropractic, and hypnosis have been suggested as noninvasive options to encourage fetal version. This study assessed the feasibility and acceptability of combined CT for breech management.

Study design: Women aged > 18 with a singleton breech fetus at 34 to 37 weeks engaged in three study visits within 2 weeks. The intervention included therapies such as Spinning Babies techniques, yoga postures, mindset techniques, and chiropractic adjustments. Stress levels were assessed pre- and postintervention.

Results: Of 24 referrals, 11 completed the study. No fetuses converted to vertex, but participants reported significantly reduced stress ( p  = 0.02). After the intervention, 54.5% opted for an external cephalic version, with a 50% success rate leading to two vaginal deliveries. All participants found the program beneficial, reporting high satisfaction with program duration, structure, and exercises.

Conclusion: Although fetal version was not achieved, this CT-based program significantly reduced maternal stress, suggesting its value as an emotional management tool in breech pregnancies. Larger trials are needed to evaluate its efficacy in promoting fetal version and improving maternal outcomes.

Key points: Approximately 86.9% of breech fetuses are delivered by cesarean section.Complementary therapies are often employed for a breech fetus with varying success.Combined complementary therapies for a breech fetus led a significant reduction in stress.

A 26-year-old woman, gravida 1 para 0 at 14 weeks' 1-day gestation, presented with vaginal spotting and systemic symptoms, including palpitations, shortness of breath, heat intolerance, nausea, and vomiting for 2 weeks. Workup revealed maternal tachycardia, severe-range blood pressure, elevated beta human chorionic gonadotropin of 2,442,400 mIU/mL, suppressed thyroid stimulating hormone, and elevated T4, consistent with thyroid storm with possible preeclampsia with severe features. 1 A transvaginal ultrasound suggested a partial molar pregnancy; this was later confirmed by surgical pathology. This case highlights the rare yet serious complications of hydatidiform mole, in particular, a partial molar pregnancy, including thyroid storm and superimposed preeclampsia, emphasizing the importance of management at a tertiary care center with a multidisciplinary team to optimize maternal outcomes. 2 3.

Intraventricular hemorrhage (IVH) is an uncommon manifestation of congenital cytomegalovirus (CMV) infection. We report a case of primary CMV infection associated with preterm labor as well as fetal anemia, thrombocytopenia, and IVH. The finding of unexplained IVH on ultrasound provided an indication for testing of congenital infection. Our case indicates the need for detailed sonographic imaging in pregnancies complicated by preterm labor, as the integration of ultrasound diagnosis can significantly impact management and improve perinatal outcomes.

Objectives: The study aimed to delineate the surgical outcomes of rectangular-shaped sutures in PAS surgery.Materials and Methods This retrospective study was conducted between January 2018 and December 2022 at Tu Du Hospital in Vietnam. The study reviewed all PAS cases below 22 weeks of gestational age (GA) that underwent cesarean delivery with rectangular-shaped hemostatic sutures. All the pregnancy characteristics, surgical features, and postoperative outcomes were described.

Results: Among thirteen pregnant women with PAS, GA from 13 to 17 weeks of GA occupied 11/13 cases. PAS was classified as accreta ( n  = 1), increta ( n  = 1), increta-percreta ( n  = 2), percreta ( n  = 4), and percreta invasive to other organs ( n  = 5). The estimated blood loss was 761.54 ± 614.12 (150-2,100 mL). Intraoperative blood loss between 500 and 1,500 mL accounted for 46.15%. The surgical duration time was 180.77 ± 32.07 (130-260 minutes). Postoperative duration time was 5.85 ± 2.08 (4-12 days). During the postpartum course, one case was reported with postpartum hemorrhage, acute renal dysfunction, and postoperative infection, respectively. Out of 13 PAS cases, 12 cases were successfully managed with conservative surgery.

Conclusion: Surgical management of PAS disorders using rectangular-shaped hemostatic sutures could be acceptable. The technical suture is simple, safe, and cost-effective.

Background: Congenital atrioventricular block (CAVB) is a rare and serious condition often associated with maternal autoimmune diseases or congenital heart defects. This study aims to evaluate the clinical presentation, management, and outcomes of neonates diagnosed with CAVB.

Methods: We conducted a retrospective study from January 2018 to December 2024, including eight neonates diagnosed with CAVB. Data on demographics, clinical features, treatment, and follow-up were analyzed.

Results: All cases were prenatally diagnosed between 20 and 25 weeks of gestation, with positive anti-SSA/SSB antibodies in five cases. Management included cesarean delivery, Holter ECG monitoring, and pacemaker implantation for four patients. One case resulted in intrauterine fetal death, and two patients died in the neonatal period. Survivors had successful pacemaker implantation with an average follow-up of 18 months.

Conclusion: Early prenatal detection and timely management of CAVB are crucial. Pacemaker implantation significantly improves survival, though challenges such as resource limitations and the lack of long-term follow-up data remain. Future studies should address these gaps to optimize care for CAVB patients.

Objective: This study aimed to evaluate the application value of amplitude-integrated electroencephalogram (aEEG) findings in a newborn with nonketotic hyperglycinemia (NKH).

Study design: The clinical data of a neonatal patient with NKH were retrospectively analyzed. In this study, aEEG was first used to assess brain function in NKH due to AMT gene mutations in the Chinese mainland so far. The aEEG assessment was stratified according to its background pattern, sleep-wake cycle (SWC), and seizure activity, which gave more objective and systemic results.

Results: Seizures and burst-suppression pattern were detected on the aEEG. The background belonged to discontinuous voltage, and showed discontinuity of cerebral activity in the form of the burst-suppression pattern. The classification of SWC in this record belonged to the "No SWC" category, which meant the child had severe brain damage. A typical neonatal single seizure was found. The seizure activity lasted approximately 30 seconds. However, clinical symptoms were not observed.

Conclusion: Patients with NKH often exhibit complicated clinical phenotypes, and there is a lack of specific symptoms, especially the symptoms of encephalopathy are atypical. aEEG is helpful for the early diagnosis and treatment of seizures. It can help the doctor to carry out appropriate treatment in time. The application value of aEEG in patients with NKH was significant.

Objective: To evaluate the management of anticoagulant therapy in neonates with cerebral sinus venous thrombosis (CSVT), focusing on potential benefits and risks.

Study design: We report the case of a full-term neonate diagnosed with CSVT, highlighting the rationale for early anticoagulation with unfractionated heparin. A brief literature review supports our clinical decision-making, considering current evidence and expert consensus despite limited neonatal-specific guidelines.

Results: Heparin therapy was started shortly after diagnosis, without hemorrhagic complications. Neuroimaging showed complete thrombus resolution. The neonate had a normal neurological examination at discharge. Follow-up confirmed overall good clinical condition and showed mild axial hypotonia and convergent strabismus suggestive of cortical visual impairment.

Conclusion: Management of CSVT in neonates remains debated. While heparin may carry a risk of bleeding, delaying treatment can lead to thrombus progression. Our case supports the potential safety and efficacy of early heparin use in selected patients. Tailored, risk-based decisions may improve outcomes, though further studies are needed to establish standardized protocols.