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American Journal of Ophthalmology Case... Jun 2024To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel variant in a pediatric patient with congenital cataracts, microphthalmia, persistent...
Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with -associated oculo-facio-cardio-dental (OFCD) syndrome.
PURPOSE
To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel variant in a pediatric patient with congenital cataracts, microphthalmia, persistent fetal vasculature (PFV), focal chorioretinal hyperpigmentation, peripheral retinal avascularity, and foveal photoreceptor atrophy.
OBSERVATIONS
A 3-month-old female patient was referred for bilateral congenital cataracts with microphthalmia. Her past medical history was significant for syndactyly of the toes, left bifid rib, atrial septal defect, patent ductus arteriosus, mitral regurgitation, pulmonary hypertension, anemia of prematurity, vesicoureteral reflux, and duodenal atresia. Examination under anesthesia revealed persistent fetal vasculature (PFV) with peripheral avascularity, foveal photoreceptor atrophy, and focal chorioretinal hyperpigmentation. A bilateral lensectomy with anterior vitrectomy and posterior capsulotomy were performed. Genetic testing identified a novel heterozygous pathogenic variant in the gene (c.1612C > T (p.Gln538Ter)), confirming a diagnosis of OFCD syndrome.
CONCLUSIONS AND IMPORTANCE
This case describes novel posterior segment findings in a patient with OFCD. A detailed examination of both anterior and posterior segments in combination with multimodal imaging should be performed in patients suspected of having OFCD, as this may be critical in determining visual potential and appropriate surgical management.
PubMed: 38699441
DOI: 10.1016/j.ajoc.2024.102060 -
Cureus Apr 2024Background As the most common chronic lung disease (CLD) related to premature birth, bronchopulmonary dysplasia (BPD) is associated with long-term lung disease along...
Background As the most common chronic lung disease (CLD) related to premature birth, bronchopulmonary dysplasia (BPD) is associated with long-term lung disease along with cardiovascular and neurodevelopmental disorders. However, data on the incidence and predictors of BPD in Qatar are lacking. Objectives In this study, we aimed to determine the incidence of BPD among infants born at ≤ 32 weeks gestational age (GA) at our neonatal unit, and identify risk factors for the development of BPD and moderate-severe BPD. Methods This was a retrospective observational cohort study conducted at a single site: a level-III neonatal intensive care unit (NICU) in Qatar. We included 1539 neonates born at ≤ 32 weeks of gestation with birth weights of ≤ 1500 grams who were admitted to the NICU between 2017 and 2020. Univariate and multivariate logistic regression analyses were performed to identify potential factors and predictors and their possible associations with the development of BPD and moderate-severe BPD. We also applied BPD classifications to determine the variability in the incidence of BPD in our cohort according to various definitions (2001 National Institute of Child Health and Human Development (NICHD) Diagnostic Criteria, 2016 Revisions of NICHD Criteria, and 2019 Neonatal Research Network Jensen Grading). Results A total of 451 infants (29.3%) had BPD (BPD group) while 1088 (70.7%) did not (non-BPD group), and the overall incidence of BPD was 29.3%. The most relevant risk factors associated with a higher risk of developing BPD identified in the multivariate logistic regression analysis were appropriate weight for gestational age (adjusted OR (aOR) 3.67, 95%CI 2.02-6.67, P < 0.001), presence of patent ductus arteriosus (PDA) (aOR 2.61, 95%CI 1.86-3.66, P < 0.001), late-onset sepsis (aOR 2.16; 95%CI 1.29-3.62; P = 0.003), and use of invasive ventilation (aOR 1.90; 95%CI 1.35-2.69; P < 0.001). The most relevant independent risk factors associated with a higher risk for developing moderate-severe BDP were postnatal steroids (aOR 7.12, 95%CI 3.77-13.44, P < 0.001), use of inhaled nitric oxide (aOR 3.65, 95%CI 1.48-9.01, P = 0.005), use of invasive ventilation (aOR 2.13, 95%CI 1.13-4.00, P = 0.019), late-onset sepsis (aOR 2.07, 95%CI 1.10-3.91, P = 0.025), and male sex (aOR 2.04, 95%CI 1.24-3.36, P = 0.005). The difference in the distribution of BPD severity across the three different definitions of NICHD was significant (P < 0.001). Conclusion The results of this study showed that the incidence of BPD remained high in infants born at ≤ 32 weeks of gestational age and birth weight <1500 g with appropriate weight for gestational age. The presence of PDA at birth or first echocardiography, late-onset sepsis, and use of invasive ventilation were significant risk factors for the incidence of BPD. The identification of risk factors will contribute to the implementation of lung-protective strategies for at-risk infants who may benefit from potential preventive therapy.
PubMed: 38694676
DOI: 10.7759/cureus.59425 -
JTCVS Open Apr 2024The best approach to minimize the observed higher mortality of newborn infants with low birth weight who require congenital heart surgery is unclear. This retrospective...
OBJECTIVE
The best approach to minimize the observed higher mortality of newborn infants with low birth weight who require congenital heart surgery is unclear. This retrospective study was designed to review outcomes of newborn infants weighing <2000 g who have undergone cardiovascular surgery to identify patient parameters and clinical strategies for care associated with higher survival.
METHODS
A retrospective chart review of 103 patients who underwent cardiovascular surgery from 2010 to 2021 who were identified as having low birth weight (≤2000 g). Patients who underwent only patent ductus arteriosus ligation or weighing >3500 g at surgery were excluded.
RESULTS
Median age was 24 days and weight at the time of surgery was 1920 g. Twenty-six (25%) operative mortalities were recorded. Median follow-up period was 2.7 years. The 1- and 3-year overall Kaplan-Meier survival estimate was 72.4% ± 4.5% and 69.1% ± 4.6%. The 1-year survival of patients who had a weight increase >300 g from birth to surgery was far superior to the survival of those who did not achieve such a weight gain (81.4% ± 5.6% vs 64.0% ± 6.7%; log-rank = .04). By multivariable Cox-hazard regression analysis, the independent predictor of 1-year mortality was genetic syndrome (hazard ratio, 3.54; 95% CI, 1.67-7.82; < .001), whereas following a strategy of increasing weight from birth to surgery resulted in lower mortality (hazard ratio, 0.49; 95% CI, 0.24-0.90; = .02).
CONCLUSIONS
A strategy of wait and grow for newborn infants with very low birth weight requiring heart surgery results in better survival than immediate surgery provided that the patient's condition allows for this waiting period.
PubMed: 38690430
DOI: 10.1016/j.xjon.2024.01.006 -
OTO Open 2024To determine whether injection laryngoplasty (IL) resolves thin liquid aspiration among children with unilateral vocal cord paralysis (UVCP) after cardiac surgery.
OBJECTIVE
To determine whether injection laryngoplasty (IL) resolves thin liquid aspiration among children with unilateral vocal cord paralysis (UVCP) after cardiac surgery.
STUDY DESIGN
Retrospective case-control.
SETTING
Tertiary children's hospital.
METHODS
Consecutive children (<5 years) between 2012 and 2022 with UVCP after cardiac surgery were included. Resolution of thin liquid aspiration after IL versus observation was determined for children obtaining videofluoroscopic swallow studies (VFSS).
RESULTS
A total of 32 children with left UVCP after cardiac surgery met inclusion. Initial surgeries were N = 9 (28%) patent ductus arteriosus ligations, N = 7 (22%) aortic arch surgeries, N = 9 (28%) surgeries for hypoplastic left heart syndrome, and N = 7 (22%) other cardiac surgeries. The mean age at initial surgery was 1.8 months (SD: 3.7). All children had a VFSS obtained after surgery that confirmed aspiration. There were 17 children that obtained an IL at 33.6 months (SD: 20.9) after cardiac surgery and 15 children observed without IL procedure. No surgical complications after IL were noted. The rate of aspiration resolution based on postoperative VFSS was N = 14 (82%) for the IL group and N = 9 (60%) for the control group = .24. Documented VFSS aspiration resolution after cardiac surgery occurred by 9.6 months (SD: 10.0) in the observation group and 47.4 months (SD: 24.1) in the IL group ( < .001).
CONCLUSION
IL can help treat aspiration in children with UVCP after cardiac surgery but the benefit beyond observation remains unclear. Future studies should continue to explore the utility for IL in managing dysphagia in this pediatric population.
PubMed: 38689853
DOI: 10.1002/oto2.142 -
International Journal of Surgery Case... Jun 2024Fungal infections in neonates, particularly primary cutaneous aspergillosis (PCA), pose significant risks to premature infants with very low birth weight. This report...
From skin to syndrome: The progression of primary cutaneous aspergillosis to extremity compartment syndrome in a premature infant. Case report and review of the literature.
INTRODUCTION AND IMPORTANCE
Fungal infections in neonates, particularly primary cutaneous aspergillosis (PCA), pose significant risks to premature infants with very low birth weight. This report chronicles the case of a 22-week gestational age female, with a birth weight of 430 g, who developed extensive cutaneous aspergillosis leading to extremity compartment syndrome- a first in the medical and surgical literature.
CASE PRESENTATION
A female micro preemie born at 22 weeks and 2 days was critically ill during her first week of life. On first day of life, attempts were made to establish intravenous access in all extremities. Eventually, the neonatal team established a peripherally inserted central catheter (PICC) in the left upper extremity. She had surfactant therapy due to lung immaturity and was on high frequency oscillatory ventilation. A large patent ductus arteriosus was treated soon after birth with intravenous acetaminophen. On day seven of life, she developed skin blisters rapidly progressing to necrotic eschars, particularly on the right lower extremity, leading to compromised limb circulation. Consultations with pediatric surgery and orthopedics one week later resulted in bedside medial and lateral escharotomies to salvage the limb. Tissue biopsy confirmed Aspergillus species, prompting a dual antifungal treatment with liposomal Amphotericin B and Voriconazole. The lesions gradually resolved with diligent wound care and aggressive physical therapy, yet a residual contracture of the right foot's dorsal area persisted, necessitating splinting.
CLINICAL DISCUSSION
Over the course of treatment, her cutaneous lesions resolved, and no further debridement was required. Aggressive physical therapy was initiated for residual contractures that the infant developed due to full thickness necrosis of the cutaneous infection. Due to concurrent pulmonary complications and tracheomalacia, surgical intervention for the contracture has been postponed.
CONCLUSION
This case highlights the critical importance of early detection and treatment of PCA in preterm infants, the challenges in managing complex cases in the NICU and the need for a multidisciplinary approach to care.
PubMed: 38688148
DOI: 10.1016/j.ijscr.2024.109658 -
BMC Pediatrics Apr 2024This study aimed to compare the efficacy of neurally adjusted ventilatory assist (NAVA) to synchronized intermittent mandatory ventilation (SIMV) in preterm infants... (Comparative Study)
Comparative Study
Comparison of neurally adjusted ventilatory assist and synchronized intermittent mandatory ventilation in preterm infants after patent ductus arteriosus ligation: a retrospective study.
OBJECTIVE
This study aimed to compare the efficacy of neurally adjusted ventilatory assist (NAVA) to synchronized intermittent mandatory ventilation (SIMV) in preterm infants requiring mechanical ventilation after patent ductus arteriosus (PDA) ligation.
METHODS
A retrospective analysis was conducted on intubated preterm infants who underwent PDA ligation at our hospital from July 2021 to January 2023. Infants were divided into NAVA or SIMV groups based on the ventilation mode after surgery.
RESULTS
Fifty preterm infants were included. During treatment, peak inspiratory pressure (PIP) and mean airway pressure (MAP) were lower with NAVA compared to SIMV (PIP: 19.1 ± 2.9 vs. 22.4 ± 3.6 cmHO, P < 0.001; MAP: 9.1 ± 1.8 vs. 10.9 ± 2.7 cmHO, P = 0.002). PaO and PaO/FiO were higher with NAVA (PaO: 94.0 ± 11.7 vs. 84.8 ± 15.8 mmHg, P = 0.031; PaO/FiO: 267 [220-322] vs. 232 [186-290] mmHg, P = 0.025). Less sedation was required with NAVA (midazolam: 1.5 ± 0.5 vs. 1.1 ± 0.3 μg/kg/min, P < 0.001).
CONCLUSION
Compared to SIMV, early use of NAVA post PDA ligation in preterm infants was associated with decreased PIP and MAP. Early NAVA was also associated with reduced sedation needs and improved oxygenation. However, further studies are warranted to quantify the benefits of NAVA ventilation.
Topics: Humans; Ductus Arteriosus, Patent; Retrospective Studies; Infant, Newborn; Male; Female; Infant, Premature; Ligation; Interactive Ventilatory Support; Intermittent Positive-Pressure Ventilation; Respiratory Distress Syndrome, Newborn
PubMed: 38678190
DOI: 10.1186/s12887-024-04727-w -
Journal of Cardiovascular Development... Apr 2024The ductus arteriosus represents an essential vascular structure connecting the pulmonary artery and the aorta. Over the past decades, there has been substantial... (Review)
Review
The ductus arteriosus represents an essential vascular structure connecting the pulmonary artery and the aorta. Over the past decades, there has been substantial advancement in our understanding of both the fundamental and clinical aspects of the ductus arteriosus. In particular, the clarification of the regulatory mechanisms governing ductal patency in critical stages such as the fetal and the perinatal period has enabled optimal management of both physiological and pathological conditions in which the ductus arteriosus plays a crucial role. Furthermore, a more in-depth understanding of the regulatory mechanisms controlling this fundamental structure has facilitated the development of advanced therapeutic strategies and personalized interventions. In the present review, we provide a comprehensive overview of the ductus arteriosus during fetal and perinatal life, encompassing its physiological functions, pathological conditions, and clinical implications. Through this examination, we aim to contribute to a broader understanding of the ductus arteriosus' role in these critical developmental stages and its significance in clinical practice.
PubMed: 38667731
DOI: 10.3390/jcdd11040113 -
Diagnostics (Basel, Switzerland) Apr 2024Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype...
Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype correlations in Asian populations are not fully elucidated. This study performed a retrospective analysis of 23 Taiwanese patients with molecularly confirmed Kabuki syndrome. Twenty-two patients presented with pathogenic variants in the gene. Comprehensive clinical assessments were performed. A literature review was conducted to summarize the spectrum of CHDs in patients with Kabuki syndrome. In total, 16 (73.9%) of 22 patients with pathogenic variants had CHDs. The most common types of CHD were atrial septal defects (37.5%), ventricular septal defects (18.8%), coarctation of the aorta (18.8%), bicuspid aortic valve (12.5%), persistent left superior vena cava (12.5%), mitral valve prolapse (12.5%), mitral regurgitation (12.5%), and patent ductus arteriosus (12.5%). Other cardiac abnormalities were less common. Further, there were no clear genotype-phenotype correlations found. A literature review revealed similar patterns of CHDs, with a predominance of left-sided obstructive lesions and septal defects. In conclusion, the most common types of CHDs in Taiwanese patients with Kabuki syndrome who presented with mutations are left-sided obstructive lesions and septal defects.
PubMed: 38667491
DOI: 10.3390/diagnostics14080846 -
Zhongguo Dang Dai Er Ke Za Zhi =... Apr 2024To investigate the risk factors for the failure of ibuprofen treatment in preterm infants with hemodynamically significant patent ductus arteriosus (hsPDA).
OBJECTIVES
To investigate the risk factors for the failure of ibuprofen treatment in preterm infants with hemodynamically significant patent ductus arteriosus (hsPDA).
METHODS
A retrospective collection of clinical data was conducted on preterm infants with a gestational age of <34 weeks who were diagnosed with hsPDA and treated at the Department of Neonatology, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, from January 2018 to June 2023. The subjects were divided into two groups based on the treatment approach: the ibuprofen group (95 cases) and the ibuprofen plus surgery group (44 cases). The risk factors for the failure of ibuprofen treatment in preterm infants with hsPDA were identified by binary logistic regression analysis.
RESULTS
The binary logistic regression analysis revealed that an increased diameter of the ductus arteriosus, a resistance index (RI) value of the middle cerebral artery ≥0.80, and prolonged total invasive mechanical ventilation time were risk factors for the failure of ibuprofen treatment in preterm infants with hsPDA (<0.05). Receiver operating characteristic curve analysis showed that a ductus arteriosus diameter >2.85 mm, a middle cerebral artery RI value ≥0.80, and a total invasive mechanical ventilation time >16 days had significant predictive value for the failure of ibuprofen treatment in preterm infants with hsPDA (<0.05). The combined predictive value of these three factors was the highest, with an area under the curve of 0.843, a sensitivity of 86.5%, and a specificity of 75.0% (<0.05).
CONCLUSIONS
A ductus arteriosus diameter >2.85 mm, a middle cerebral artery RI value ≥0.80, and a total invasive mechanical ventilation time >16 days are risk factors for the failure of ibuprofen treatment in preterm infants with hsPDA, and they are of significant predictive value for the necessity of surgical treatment following the failure of ibuprofen treatment.
Topics: Humans; Ibuprofen; Ductus Arteriosus, Patent; Infant, Newborn; Infant, Premature; Female; Risk Factors; Male; Retrospective Studies; Treatment Failure; Hemodynamics; Logistic Models
PubMed: 38660897
DOI: 10.7499/j.issn.1008-8830.2310145