- Cor triatriatum dexter with right ventricular hypoplasia: Role of multimodality imaging in decision making. [Case Reports]
- EEchocardiography 2018 Nov 09
- Cor Triatriatum Dexter (CTD) is a rare congenital anomaly involving the systemic venous valves. Failure of regression of the right-sided sinus venosus valve leads to abnormal septation of the right a...
Cor Triatriatum Dexter (CTD) is a rare congenital anomaly involving the systemic venous valves. Failure of regression of the right-sided sinus venosus valve leads to abnormal septation of the right atrium and a variety of right atrial and tricuspid valve obstructive lesions. The presentation can be varied ranging from asymptomatic to persistent neonatal cyanosis. We describe a late diagnosis of CTD in a 10-month-old male with persistent hypoxia despite balloon valvuloplasty for mild pulmonic valve stenosis with a large secundum atrial septal defect and a mildly hypoplastic right ventricle.
- Phlegmasia Cerulea Dolens with Compartment Syndrome. [Journal Article]
- AVAnn Vasc Dis 2018 Sep 25; 11(3):355-357
- Venous thromboembolism (VTE) is a major healthcare problem that results in significant mortality, morbidity, and expenditure of resources. It compounds with pulmonary embolism (PE) and deep vein thro...
Venous thromboembolism (VTE) is a major healthcare problem that results in significant mortality, morbidity, and expenditure of resources. It compounds with pulmonary embolism (PE) and deep vein thrombosis (DVT). Phlegmasia cerulea dolens (PCD) is an uncommon but potentially life-threatening complication of acute DVT characterized by marked swelling of the extremities with pain and cyanosis, which in turn may lead to arterial ischemia and ultimately gangrene with high amputation and mortality rates. The key in treating such patients is to provide quick and effective treatment to save the limbs and the patient.
- [Clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation]. [Journal Article]
- ZEZhonghua Er Ke Za Zhi 2018 Nov 02; 56(11):818-823
- Objective: To summarize the detailed clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation, in order to improve the understanding of the disease. Methods: T...
Objective: To summarize the detailed clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation, in order to improve the understanding of the disease. Methods: The clinical data and genetic results of 40 benign infantile epilepsy patients with PRRT2 mutation who were diagnosed and treated in the neurology department of National Center for Children's Health (Beijing) , Beijing Children's Hospital affiliated to Capital Medical University from January 2002 to October 2017 and their affected family members were analyzed. Results: Forty benign infantile epilepsy patients were recruited for this study, with 18 males and 22 females. The age at onset ranged from 3 to 15 months (median: 4.6 months). All patients presented focal seizures with or without secondary generalization. Decreased responsiveness, eyes stare and cyanosis were commonly observed. A cluster of seizures was observed in 20 patients at the beginning of the disease, but interictal clinical conditions were normal. Interictal electroencephalograms were normal in 32 cases but 8 cases showed small amount scattered spike and spike wave. Two patients developed paroxysmal kinesigenic dyskinesia in 30 months and 12 years respectively after the cessation of the seizure. Thirty-four affected pedigree members had a history of paroxysmal episodes in 24 families, including 19 individuals of infantile afebrile convulsion, 6 individuals of paroxysmal kinesigenic dyskinesia during childhood or adulthood, 8 individuals of infantile convulsion and paroxysmal kinesigenic dyskinesia during adulthood, one individual of infantile febrile convulsion. The follow-up time ranged from 6 months to 15 years. Thirty-six patients were treated with antiepileptic drugs and their seizures were easy to control. Four patients stayed seizure free without medication (all <2 years). Seizure stopped in 24 patients within 1 year of age, in 10 patients stopped during 12-24 months and in 2 patients stopped during 24-36 months. All cases had PRRT2 mutations, 7 cases of a complete PRRT2 deletion, 33 cases of PRRT2 heterozygous mutations consisted of 28 frameshift mutations and 5 missense mutations. Of these heterozygous mutations, 30 cases were hereditary mutations while 3 were de novo mutations. Nine family members harbored the same PRRT2 mutations without any symptom. Conclusions: Benign infantile epilepsy with PRRT2 mutation is characterized by early onset of seizure mostly before 6 months, focal seizures with or without secondary generalization, a high incidence of a cluster of seizures, rapid resolution of seizure by antiepileptic drugs and cessation of seizure mostly before 2 years of age. Partial patients may develop paroxysmal kinesigenic dyskinesia increasing with age. Most PRRT2 gene mutations are heterozygous mutations, and a few are the overall deletion of PRRT2 gene.
- Asxl1 exerts an antiproliferative effect on mouse lung maturation via epigenetic repression of the E2f1-Nmyc axis. [Journal Article]
- CDCell Death Dis 2018 Nov 02; 9(11):1118
- Although additional sex combs-like 1 (ASXL1) has been extensively described in hematologic malignancies, little is known about the molecular role of ASXL1 in organ development. Here, we show that Asx...
Although additional sex combs-like 1 (ASXL1) has been extensively described in hematologic malignancies, little is known about the molecular role of ASXL1 in organ development. Here, we show that Asxl1 ablation in mice results in postnatal lethality due to cyanosis, a respiratory failure. This lung defect is likely caused by higher proliferative potential and reduced expression of surfactant proteins, leading to reduced air space and defective lung maturation. By microarray analysis, we identified E2F1-responsive genes, including Nmyc, as targets repressed by Asxl1. Nmyc and Asxl1 are reciprocally expressed during the fetal development of normal mouse lungs, whereas Nmyc downregulation is impaired in Asxl1-deficient lungs. Together with E2F1 and ASXL1, host cell factor 1 (HCF-1), purified as an Asxl1-bound protein, is recruited to the E2F1-binding site of the Nmyc promoter. The interaction occurs between the C-terminal region of Asxl1 and the N-terminal Kelch domain of HCF-1. Trimethylation (me3) of histone H3 lysine 27 (H3K27) is enriched in the Nmyc promoter upon Asxl1 overexpression, whereas it is downregulated in Asxl1-deleted lung and -depleted A549 cells, similar to H3K9me3, another repressive histone marker. Overall, these findings suggest that Asxl1 modulates proliferation of lung epithelial cells via the epigenetic repression of Nmyc expression, deficiency of which may cause hyperplasia, leading to dyspnea.
- Myh10 deficiency leads to defective extracellular matrix remodeling and pulmonary disease. [Journal Article]
- NCNat Commun 2018 Nov 02; 9(1):4600
- Impaired alveolar formation and maintenance are features of many pulmonary diseases that are associated with significant morbidity and mortality. In a forward genetic screen for modulators of mouse l...
Impaired alveolar formation and maintenance are features of many pulmonary diseases that are associated with significant morbidity and mortality. In a forward genetic screen for modulators of mouse lung development, we identified the non-muscle myosin II heavy chain gene, Myh10. Myh10 mutant pups exhibit cyanosis and respiratory distress, and die shortly after birth from differentiation defects in alveolar epithelium and mesenchyme. From omics analyses and follow up studies, we find decreased Thrombospondin expression accompanied with increased matrix metalloproteinase activity in both mutant lungs and cultured mutant fibroblasts, as well as disrupted extracellular matrix (ECM) remodeling. Loss of Myh10 specifically in mesenchymal cells results in ECM deposition defects and alveolar simplification. Notably, MYH10 expression is downregulated in the lung of emphysema patients. Altogether, our findings reveal critical roles for Myh10 in alveologenesis at least in part via the regulation of ECM remodeling, which may contribute to the pathogenesis of emphysema.
- Case 4: Atypical Cause of Cyanosis While Bathing in an 18-month-old Boy. [Journal Article]
- PRPediatr Rev 2018; 39(11):568-569
- LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION. [Journal Article]
- RPRev Paul Pediatr 2018 Oct 29
- CONCLUSIONS: Between 10 and 30% of individuals with Leigh syndrome have mitochondrial DNA mutations. The decompensation after anesthetic intercurrences is typically associated with neurological deterioration and, in this case, increased the diagnosis suspicion. It is important to alert for similar cases and to reduce invasive diagnostic tests if the diagnosis is suspected.
- Outcomes and swallowing evaluations after injection laryngoplasty for type I laryngeal cleft: Does age matter? [Journal Article]
- IJInt J Pediatr Otorhinolaryngol 2018; 115:10-18
- CONCLUSIONS: Symptoms of type I laryngeal clefts may differ by age. However, there was no impact of age on the safety and efficacy of surgical intervention.
- Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center. [Journal Article]
- KJKorean J Pediatr 2018 Oct 23
- CONCLUSIONS: Early identification of PD is very important, as ERT is effective for treatment. Patients with IOPD should be considered as candidates for clinical trials of new drugs in the future, as this study indicates the effectiveness of ERT in IOPD.
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- Changes in corneal thickness in patients with high-altitude pulmonary edema after systemic oxygen therapy. [Journal Article]
- IJIndian J Ophthalmol 2018; 66(11):1554-1557
- CONCLUSIONS: The findings of statistically insignificant difference in CCT between HAPO cases and controls and a decrease in CCT in HAPO cases on being treated with systemic oxygenation are points to ponder about.