Congenital coronary artery fistulas (CAFs) are an uncommon congenital anomaly. While most patients are asymptomatic, life-threatening events including sudden death, myocardial ischemia, heart failure, infective endocarditis, and rupture of aneurysm may occur. Surgical ligation was once the standard choice of management of CAFs in the past. However, transcatheter closure of CAFs has become an emerging alternative to surgery in patients with suitable anatomy. We reported a 7-month-old infant with a giant and tortuous CAF that originated from the distal right coronary artery and drained into the right ventricle, and was successfully treated by transcatheter closure with an Amplatzer ductus occluder.
Identifying child abuse is sometimes challenging due to its various presentations. To facilitate timely identification of critical or complex cases of physical abuse outside our child protection center, we established an outreach multidisciplinary team (OMDT) to support Kaohsiung City Government in 2014. The objective of this study was to describe our experience of OMDT services during a 6-year period and examine its role in assisting law enforcement.We retrospectively analyzed all OMDT cases from January 2014 to January 2020. Clinical characteristics and OMDT reports were reviewed. After inspection by our OMDT, cases were determined as indicating either a high risk or low risk of child abuse. Associations among clinical characteristics, radiographic findings, OMDT decisions and case outcomes including law enforcement and prosecution were examined.Thirty-two cases (22 [68.8%] males and 10 [31.2%] females; mean age 24.2 months) received OMDT service, of whom 28 (87.5%) were admitted to the pediatric intensive care unit. The victims had an average of 2.2 types of wounds in 3.4 locations. The most common finding on radiography was subdural hemorrhage (18, 56.3%), followed by subarachnoid hemorrhage (31, 31.3%). Law enforcement was activated in 20 (64.5%) cases, and was only associated with the high-risk group as determined by the OMDT (p < 0.05) but not with any other variables.Our experience indicates that an OMDT can play an important role in child protection and activating law enforcement for children with complex or critical physical abuse. We suggest that in Taiwan, OMDT services should be incorporated into child protection centers, National Health Insurance system and governmental child protection policies.
Kawasaki disease (KD) has become the most common form of pediatric systemic vasculitis. Although patients with KD received intravenous immunoglobulin (IVIG) therapy, coronary arterial lesions (CALs) still occurred in 5%-10% of these patients during the acute stage. CALs may persist and even progress to stenosis or obstruction. Therefore, CALs following KD are currently the leading cause of acquired heart diseases in children. The etiology of CALs remains unknown despite more than four decades of research. Two unsolved problems are IVIG unresponsiveness and the diagnosis of incomplete KD. The two subgroups of KD patients with these problems have a high risk of CAL. In April 2017, the American Heart Association (AHA) updated the guidelines for the diagnosis, treatment, and long-term management of KD. Compared with the previous KD guidelines published in 2004, the new guidelines provide solutions to the aforementioned two problems and emphasize risk stratification by using coronary artery Z score systems, as well as coronary severity-based management and long-term follow-up. Therefore, in this study, we merged the AHA Scientific Statement in 2017 with recent findings for Taiwanese KD patients to provide potential future care directions for Taiwanese patients with KD.
Lung abscess is a complication of pneumonia and is uncommon in children. Although most patients with lung abscesses have good response to antibiotic treatment, this conservative treatment may occasionally fail. For patients refractory to antibiotic therapy, surgery or image-guided percutaneous drainage is the option of choice. With the advance of technique, the successful rate and clinical outcome of image-guided percutaneous drainage have improved since the 1980s. Nowadays, image-guided percutaneous drainage takes priority before surgery for the lung abscess in clinical practice. Herein, we report a 4-year-7-month-old girl with pneumonia complicated with pleural effusion and lung abscess who had poor response to antibiotics treatment. After computed tomography (CT)-guided percutaneous drainage, the lung abscess was cured. Image-guided percutaneous drainage is a safe and effective treatment in the pediatric lung abscess once antibiotics therapy fails.
Abstract Background Autophagy can have either beneficial or detrimental effects on various heart diseases. Pharmacological interventions improve cardiac function, which is correlated with enhanced autophagy. To assess whether a xanthine derivative (KMUP‐3) treatment coincides with enhanced autophagy while also providing cardio‐protection, we investigated the hypothesis that KMUP‐3 treatment activation of autophagy through PI3K/Akt/eNOS signalling offered cardioprotective properties. Methods The pro‐autophagic effect of KMUP‐3 was performed in a neonatal rat model targeting cardiac fibroblasts and cardiomyocytes, and by assessing the impact of KMUP‐3 treatment on cardiotoxicity, we used antimycin A‐induced cardiomyocytes. Results As determined by transmission electron microscopy observation, KMUP‐3 enhanced autophagosome formation in cardiac fibroblasts. Furthermore, KMUP‐3 significantly increased the expressions of autophagy‐related proteins, LC3 and Beclin‐1, both in a time‐ and dose‐dependent manner; moreover, the pro‐autophagy and nitric oxide enhancement effects of KMUP‐3 were abolished by inhibitors targeting eNOS and PI3K in cardiac fibroblasts and cardiomyocytes. Notably, KMUP‐3 ameliorated cytotoxic effects induced by antimycin A, demonstrating its protective autophagic response. Conclusion These findings enable the core pathway of PI3K/Akt/eNOS axis in KMUP‐3‐enhanced autophagy activation and suggest its principal role in safeguarding against cardiotoxicity.
Rationale: Azathioprine is a purine analog (PA) used to treat myasthenia gravis (MG). However, some patients are sensitive to azathioprine and develop severe side effects, such as leukopenia, alopecia, and diarrhea soon after using the medication. Pharmacogenetics plays a crucial role in such intolerance. Patient concerns: A 16-year-old woman with MG developed hair loss, pancytopenia, bloody diarrhea, and fever shortly after azathioprine treatment. Diagnosis: Pharmacogenetic analysis revealed compound heterozygosity of the nudix hydrolase 15 ( NUDT15 ) gene, which led to suppressed NUDT15 function. Colonoscopy revealed large ulcers with polypoid lesions in the terminal ileum, cecum, ascending colon, and rectum. These are the characteristics of inflammatory bowel disease (IBD). Interventions: Sanger sequencing of NUDT15 gene and colonoscopy for bloody stool evaluation. Outcomes: The patient recovered completely from this acute episode after discontinuation of azathioprine treatment. Her hemogram turned back to normal range. There was also no blood in stool during follow-up. Lessons: Pharmacogenetic effects should be considered when prescribing PA medication. The possibility of secondary or concomitant autoimmune diseases must always be considered in patients with MG.
Objective: Polymorphisms of the gene encoding the regulator of G-protein signaling subtype 4 (RGS4) are associated with schizophrenia. This study aims to investigate the association of 4 RGS4 polymorphisms (single nucleotide polymorphisms [SNPs] 1, 4, 7, and 18), implicated in previous studies, with baseline symptoms and treatment response to risperidone in patients with schizophrenia. Methods: One hundred twenty patients with acutely exacerbated schizophrenia who had never been treated by atypical antipsychotics were recruited. They received optimal treatment of risperidone for up to 42 days in the inpatient research unit. Patients' social functions were monitored by Nurses' Observation Scale for Inpatients Evaluation and clinical manifestations, by Positive and Negative Syndrome Scale. Results: At baseline status, the A/A genotype at SNP7 of RGS4 was associated with poorer social function when compared with the G/G genotype. After risperidone treatment, the A/A genotype at SNP1 was associated with greater improvement at social function, and the A/A genotype at SNP18 was associated with greater improvement at social function, Positive and Negative Syndrome Scale total score, and positive- and negative-symptom subscale. Conclusions: These findings suggest that RGS4 variances influence clinical manifestations of schizophrenia as well as the treatment response to risperidone, suggesting that RGS4 plays a role in the fundamental process of disease pathophysiology.
Risperidone is an atypical antipsychotic agent with efficacy for both positive and negative symptoms of schizophrenia. Risperidone is a potent dopamine D3 antagonist and agonism at D3 sites induces behavioral suppression in rodents. We thus hypothesized that D3 antagonism may contribute to response to risperidone in negative symptoms. This study aimed to explore the influence of the Ser9Gly polymorphism of the dopamine D3 receptor (DRD3) gene on response to risperidone after controlling for nongenetic factors. One hundred twenty-three Han Chinese patients with acutely exacerbated schizophrenia were given risperidone monotherapy for up to 42 days. Clinical manifestations were measured biweekly with Positive and Negative Syndrome Scale and Nurses' Observation Scale for Inpatients Evaluation (for assessment of social functioning). For adjusting the within-subject dependence over repeated assessments, multiple linear regression with generalized estimating equation methods was used to analyze the effects of Ser9Gly polymorphism and other covariates on clinical performance. Compared with patients with the Gly9Gly genotype, those with either Ser9Ser or Ser9Gly had better performance on negative symptoms after control for other prognostic factors (P = 0.0002 and 0.0092, respectively). Patients with the Ser9Ser genotype had better social functioning than those with Gly9Gly (P = 0.0029). The Ser9Gly polymorphism, however, did not significantly affect positive symptoms. Male gender, fewer previous hospitalizations, and higher risperidone dose also predicted better treatment response. These data suggest that the DRD3 Ser9Gly polymorphism or, alternatively, another genetic variation that is in linkage disequilibrium, may influence response to risperidone in negative symptoms and social functioning.
A 12-year-old boy with dyspnea secondary to pneumonia and left pleural effusion was referred to our hospital. Although his fever, cough, and dyspnea gradually subsided after antibiotic treatment [amoxicillin-clavulanic acid (90 mg/kg/day) and azithromycin (10 mg/kg/day)] and pleural effusion drainage, he complained of an acute and newly onset chest pain at rest 3 days after. Electrocardiography revealed sinus tachycardia despite normal serum cardiac enzyme levels. Additionally, repeat chest radiography revealed a Palla's sign on the right side (Fig. 1A).
We would like to present a case of hereditary hemorrhagic telangiectasia (HHT) with initial presentation of failure to thrive. A 10-year-old boy with regular follow-up at a pediatric endocrinology clinic for poor weight gain was admitted due to intermittent headache for five days. He was born with termed gestational age and birth body-weight 3500 g. Poor body-weight gain was noted from 4 years of age, although with normal hormonal status and skeletal age. This time, intermittent headache and decreased activity were noted for 5 days, as was mild fever around 37.5C degrees, slurred speech and saliva drooling from right-side oral angle. Physical examination revealed a slim figure with body mass index 9.l, body weight less than the third percentile (body weight 17.3 kg and body height 138 cm) and clubbing fingers. Pulse oximeter showed SpO2 80% in room air. Laboratory data revealed white blood cell count of 11 520/μL (6000-10 400), segment 79.1% (55-75), hemoglobin 16.5 g/dL (14-18 g/dL), platelet 275 (140-500, 1000/μL) and C-reactive protein 26.2 mg/L (<5), while arterial blood gas was pH:7.449 (7.35-7.45), paCO2:28 mm Hg (35-45), paO2:46.6, mm Hg (75-100), HCO3−:19 mm Hg (22-26), base excess:−3.5, and SaO2:85.2% (95-98). Brain computed tomography revealed a mass with size 4.4 cm in diameter at left frontal lobe (Figure 1A). The core of the lesion in brain magnetic resonance image showed hyperintensity on T2WI, hypointensity on T1WI, hyperintensity on DWI, and hypointensity on ADC. Brain abscess was proven after operation of extirpation. Cardiac echography showed presence of arteriovenous fistula over right middle and posterior lung fields. Chest computed-tomography-and-angiography revealed bilateral multiple pulmonary arteriovenous malformations (PAVMs; Figure 1B). Diagnosis of HHT type 1 was confirmed according to positive Endoglin gene test. 14 months after embolization of PAVMs, increased maximal oxygen consumption (from 27.16 to 33.7 mL/kg/min) in cardiopulmonary stress test was noted. Clinical diagnosis of HHT is according to Curacao criteria including epistaxis, telangiectasia, visceral lesions, and family history. A definite diagnosis is confirmed if a patient presents at least three of the above four criteria.1 PAVM is one of the visceral lesions related to HHT, and has a natural tendency to increase in size over time. Penetrance is age-related, and it is almost completed by the age of 40-years.2 Well tolerance of daily activity before adolescence might be related to slow progression of PAVM. In addition to clubbing fingers, failure to thrive might be a presentation of long-term hypoxemia caused by status of right-to-left shunt. As clinical manifestations of HHT develop with age, the Curacao criteria lack sensitivity and have limited value in children and young adults.3 The time lag occurring between the onset of HHT-related manifestations and the final diagnosis is 29.1 years.4 Before adolescence, failure to thrive might be an underestimated presentation of PAVM or HHT. The mechanisms through which PAVMs might cause poor growth are likely related to decreased energy intake, malabsorption, or increased energy expenditures similar to congenital heart disease with right-to-left shunt. This is the second report of HTT presenting with failure to thrive as an initial symptom.5 All authors declare no conflicts of interest.
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