PTPN11 Mutations in LEOPARD Syndrome: Report of Four Cases in Taiwan

Background/PurposeLEOPARD syndrome (LS) is a rare, autosomal dominant disorder. The typical clinical presentation includes multiple lentigines and cardiac defects. Mutation analysis of the PTPN11 gene is feasible. We report four cases of LS, which were confirmed by molecular genetic study.MethodsThe clinical features and mutations of the four patients were summarized.ResultsThe diagnosis of all four patients was made when lentigines appeared during childhood. Three cases had hypertrophic cardiomyopathy. No electrocardiographic conduction abnormality was noted in any of the cases. Three patients had hypertelorism and three had short stature. Two patients, identical twins, presented with the atypical phenotype of tongue protrusion and hepatosplenomegaly at birth. Twin B had mild mental retardation. Case 4 had moderate hearing impairment. Point mutation of the PTPN11 gene was found in all patients.ConclusionLS has typical skin manifestations. All patients should undergo a comprehensive examination, especially echocardiography and electrocardiography. The diagnosis can be confirmed by genetic study

Application of Three-Dimensional Printing in Surgical Planning for Medical Application

Three-dimensional printing (3DP) is an evolving technology with a wide range of medical applications. It complements the traditional methods of visualizing the cardiovascular anatomy and assists in clinical decision making, especially in the planning and simulation of percutaneous surgical procedures. The doctor–patient relationship has changed substantially, and patients have become increasingly aware of their rights and proactively make decisions regarding their treatment. We present our experience in using 3DP for aortic repair, preoperative surgical decision making for congenital heart disease, and simulation-based training for junior vascular surgeons. 3DP can revolutionize individualized treatment, especially for congenital heart disease, which involves unique anatomy that is difficult to examine using traditional computed tomography. As cardiovascular medicine and surgery require increasingly complex interventions, 3DP is becoming an essential technology for surgical instructors and trainees, who can learn to become responsible and humane medical doctors. 3DP will play an increasingly crucial role in the future training of surgeons

Case report: Distinct neurologic manifestation and cytokine profile of a child with COVID-19-associated acute fulminant encephalitis

The neurologic manifestations of coronavirus disease 2019 (COVID-19) may range from mild symptoms such as headache or confusion to profound encephalopathy with variable outcomes and sequelae. Here, we reported a case of fatal COVID-19-associated encephalitis with acute fulminant cerebral edema, presenting first with visual hallucination and then a rapid progression into comatose status in a few hours. Serial brain computed tomography depicted cerebral edematous changes from bilateral ventral temporal lobe to the whole brain leading to brain herniation. Multiple cytokines in serum and cerebrospinal fluid (CSF) were increased, with a more prominent rise in the CSF. Therefore, we postulated a hypothesis regarding the mechanism of this fulminant encephalitis that the SARS-CoV-2 virus attacked ventral temporal lobes initially, triggered a severe cytokine storm, and then led to subsequent disruption of the blood-brain barrier, diffuse brain edema, and brain herniation. The trend of cytokine profiles over time may aid in diagnosing and evaluating the severity and prognosis of COVID-19-associated encephalitis

Interventional Transcatheter Closure Ameliorates the Leukocyte Rho Kinase Activities among Patients with Patent Ductus Arteriosus

Background: Patent ductus arteriosus (PDA) causes increased pulmonary blood flow, which can lead to pulmonary arterial hypertension (PAH). Rho-associated coiled-coil containing protein kinase (ROCK) may play an important pathophysiological role in PAH. We hypothesized that the increased pulmonary artery (PA) flow from PDA could activate ROCK. Methods: Patients who received a PDA transcatheter closure in our hospital were consecutively enrolled in this study. Basic demographics and clinical hemodynamic data of the study participants were recorded. Then, ROCK activity was measured before and after the PDA occlusion procedure. ROCK activity was defined as the phosphorylation ratio of myosin-binding subunit by Western blot measurement. We also sub-divided patients into the coil group and occluder group based on the occlusion device used in each patient's procedure. Results: From January 2009 to December 2011, 25 patients with a median age of 2.3 years, ranging from 10 months to 72 years were enrolled. The mean PDA size was 0.31 ± 0.14 cm, the mean Qp/Qs shunt was 1.54 ± 0.41, and the mean systolic pulmonary artery pressure was 26.9 ± 10.3 mmHg. There were 10 patients (one boy and nine girls) in the coil group and 15 patients (four boys and eleven girls) in the occluder group. Following the closure of the PDA, ROCK activity significantly decreased (1.78 ± 2.25 vs. 0.77 ± 0.69, p < 0.01). There was a strong correlation between the leukocyte ROCK activity with the systolic PA pressure (y = 5.4608x + 22.54, R2 = 0.5539, p < 0.05), but not the Qp/Qs value. Both subgroups showed significant changes of ROCK activity after the procedure. Interestingly, when comparing the coil group with the occluder group, the decrease in ROCK activity was more apparent in the occluder group. Conclusions: The findings of this study indicated that ROCK activity is higher in patients with PDA and correlates with PA pressure. The decrease in ROCK activity following the device closure suggests that ROCK may be an important biomarker for PDA patency

Transient Congenital Complete Heart Block: A Case Report

Congenital complete heart block is defined as a complete atrioventricular block occurring prenatally, at birth, or within the first month of life. Congenital complete heart block has a high mortality rate, and in infants with normal heart morphology, it is often associated with maternal connective tissue disease. In these latter cases, neonatal congenital complete heart block is usually irreversible. We present a rare case of a female neonate who had bradycardia noted at a gestational age of 37 weeks. Her mother had no autoimmune disease history. She had no structural heart disease, and the serology surveys for autoantibodies including SSA/Ro and SSB/La were all negative. Without intervention or medication, her congenital complete heart block completely recovered to a normal sinus rhythm within 5 days. The cause of the transient congenital complete heart block was unknown in this case

Cardiovascular Intervention in Neonates Using an Umbilical Vein Approach

Cardiovascular catheterization has been applied in infant treatment for several decades. To date, considerable research attention has been paid to cardiovascular catheterization in small neonates. However, peripheral vascular routes of catheterization are possible obstacles for interventionists. Umbilical vein catheterization has been reported as a route for neonates, although few attempts have been made to investigate this approach. This study aimed to retrospectively review cardiovascular intervention using the umbilical vein approach as applied to infants admitted to a tertiary center from 2017 to 2020. Details including the perinatal variables, indication diagnoses, and procedure devices were collected. The enrollment included a total of 16 cases representing 17 intervention events, with infants born at a gestation age of 22–39 weeks and body weight ranging from 478 to 3685 g at the time of the procedure. The postnatal age ranged from 1 to 27 days. The catheter sizes ranged from 4 to 11 Fr. Indications included being admitted for patent ductus arteriosus occlusion (n = 15), balloon pulmonary valvuloplasty (n = 3), balloon atrial septostomy (BAS) (n = 3), pulmonary valve (PV) perforation (n = 1), and two interventions for catheter placement for continuous venovenous hemofiltration. The success rate for cardiovascular catheterization was 88.2% (15/17). There were two patients for which cannulation failed due to ductus venosus closure: one intraabdominal hemorrhage complication during continuous venovenous hemofiltration (CVVH), and one cardiac catheterization failure of PV perforation due to failure to insert the guiding catheter into the right ventricular outflow tract. Based on these findings, we conclude that cardiac catheterization and the placement of a large-sized catheter through an umbilical vein in a small infant represents a safe and time-saving method when catheterization is required