Echocardiogram-Guided Stenting of a Critical Aortic Coarctation in an Extremely Low Weight Preterm Infant.

We report a case of critical aortic coarctation in an extremely low birth weight preterm infant weighing 600 g that was successfully treated with interventional stent implantation. The intervention was guided by echocardiography without using contrast agent due to associated renal failure. (Level of Difficulty: Intermediate.).

Hoffman syndrome: New patients, new insights.

Hypogammaglobulinemia or agammaglobulinemia are major features of specific syndromes, including X-linked agammaglobulinemia and common variable immunodeficiency. However, the combination of hypogammaglobulinemia with specific dysmorphic features is less common, with only a few reported cases. One such report was a sporadic case of humoral immunodeficiency, facial dysmorphism, and limb anomalies in a young girl, later referred to as Hoffman syndrome. We report on a 7-year-old girl with almost complete loss of B cells, facial dysmorphism, and malformation of the limbs and genitalia, whose mother shows similar dysmorphic features with an attenuated version of the B-cell deficiency. We believe that all three cases described above represent the same condition. The features of the three affected individuals with Hoffman syndrome are reviewed. Further investigations in this recently recognized B-cell immunodeficiency syndrome are warranted.

Aortic stenosis of the neonate: A single-center experience.

OBJECTIVES: Because data for neonates are limited, optimal management of critical aortic stenosis remains controversial (balloon valvotomy [BV] or open valvoplasty [OV]). In a center with balanced experience in both methods, we hypothesized that OV can provide a better individualized approach than blunt BV and better serve long-term outcomes. METHODS: A retrospective review of data and follow-up (survival, freedom from operation/replacement) of all neonates, suitable for biventricular repair, undergoing aortic valve procedure (1989-2015), was performed. RESULTS: One hundred three patients were concomitantly treated (BV [n = 51], OV [n = 52). Median age was 8 days, median aortic annulus Z-score was -1.3 for BV (range, -3.9 to 2.0) and OV (-3.9 to 3.2) groups. Operative mortality after BV or OV was 8% (n = 4) and 4% (n = 2), respectively. With a 13-year median follow-up, 10-year freedom from operation was 36% and 66% after BV or OV, respectively. Valve replacement was ultimately required in 32 patients (n = 20 [39%] in the BV group; n = 12 [23%] in the OV group) within a 5.9-year median time. After OV, tricuspid arrangement of the repaired aortic valve provided a 10-year freedom from operation and replacement of 87% and 95%, respectively. In multivariate analysis, associated left heart malformations, BV, nontricuspid geometry, and inadequate post procedural result were predictive of operation and replacement. CONCLUSIONS: In neonates with critical aortic stenosis, both methods (BV and OV) offer excellent survival benefit. OV significantly minimizes the need for operation, whereas BV did not postpone age of replacement. Clearly superior results are achieved with OV when a post repair tricuspid arrangement is obtained.

Contemporary results of aortic valve repair for congenital disease: lessons for management and staged strategy.

OBJECTIVES: Any aortic valve (AoV) operation in children (repair, Ross or mechanical replacement) is a palliation and reinterventions are frequent. AoV repair is a temporary solution primarily aimed at allowing the patient to grow to an age when more definitive solutions are available. We retrospectively analysed AoV repair effectiveness across the whole age spectrum of children, excluding neonates and AoV disease secondary to congenital heart disease. METHODS: From 2003 to 2015, 193 consecutive patients were included. The mean age was 9.2 ± 6.9 years (22% <1 year); 86 (45%) had a preceding balloon valvuloplasty. The indications for the procedure were stenotic (n = 123; 64%), regurgitant (n = 63; 33%) or combined (n = 7; 4%) disease. The procedures performed were commissurotomy shaving (n = 74; 38%), leaflet replacement (n = 78; 40%), leaflet extension (n = 21; 11%) and neocommissure creation (n = 21; 11%). Post-repair geometry was tricuspid in 137 (71%) patients. RESULTS: The 10-year survival rate was 97.1%. Freedom from reoperation and replacement at 7 years was, respectively, 57% (95% confidence interval, 47-66) and 68% (95% confidence interval, 59-76). In multivariate analysis, balloon dilatation before 6 months, the absence of a developed commissure, a non-tricuspid post-repair geometry and cross-clamp duration were predictors for reoperation and replacement. After a mean follow-up period of 5.1 ± 3.0 years, 145 (75%) patients had a preserved native valve, with undisturbed valve function (peak gradient <40 mmHg, regurgitation ≤mild) in 113 (58%). CONCLUSIONS: Aortic valve repair in children is safe and effective in delaying the timing for more definitive solution. Surgical strategy should be individualized according to the age of the patient. Avoidance of early balloon dilatation and aiming for a tricuspid post-repair arrangement may improve outcomes.

The blue child - amiodarone-induced blue-gray skin syndrome and pulmonary mass in a child.

Adverse effects of amiodarone are rarely seen in pediatric patients, but may occur if amiodarone is applied for long-term treatment. Two rather rare phenomena are blue-gray skin pigmentation and pulmonary mass. They represent important differential diagnoses from more common clinical complications like pneumonia and drug-induced toxic skin lesions.

[Varicella vaccination: who should be vaccinated these days?]. / Die STIKO empfiehlt jetzt die Grundimmunisierung für alle Kinder. Stichhaltige Argumente für die Varizellenimpfung.

In July 2004 the STIKO (German National Commission for Vaccinations) recommended routine varicella vaccination (together with the first MMR vaccination) for all healthy infants. The previous recommendations for vaccination of adolescents with no history of varicella and patient groups at risk remain valid. In persons with severely depressed cellular immunity or pregnant women vaccination with live attenuated VZV vaccines is contraindicated. Experience gained in the United States show that widespread introduction of VZV vaccination results in a decrease in both the incidence of varicella and concomitant complications including herpes zoster.

Generation of carrier peptides for the delivery of nucleic acid drugs in primary cells.

Now that the human genome has been decoded, the demand for novel therapeutic concepts, such as gene and stem cell therapy, is higher than ever before. Although new and better pharmaceutical agents are available, their efficient delivery to the intracellular site of action is still a serious challenge. A possible solution to this problem is the use of cell-penetrating peptides as delivery vectors, including derivatives of human calcitonin (hCT). The aim of this study was to synthesise novel branched hCT-derived peptides for the noncovalent delivery of nucleic acids. The uptake of the resulting oligocationic peptides into various cell lines as well as primary cells was monitored by fluorescence microscopy. To determine the appropriate peptide-plasmid charge ratios for efficient cell transfection, electromobility shift assays were carried out. Finally, flow cytometric and fluorescence microscopic studies of gene expression highlighted two novel hCT-derived peptides as highly effective in the delivery of noncovalently complexed plasmid DNA. Thus, the absence of cytotoxicity paired with highly efficient cell internalisation and transfection rates, in primary cells as well, make both peptides powerful candidates as drug delivery vectors, especially for plasmid DNA, for both in vivo and ex vivo therapeutic applications.