查看更多>>摘要：Since the initial get together, which produced the Proceedings of the First Joint Conference Ospedale Pediatrico Bambino Gesii (OPBG)/Mayo Clinic, a second joint conference took place in Rochester, Minnesota, on 2-4 October 2003. Again, the occasion gave rise to the opportunity to discuss several topics related to a variety of scientific and clinical aspects of paediatric medicine and surgery. The topics presented and discussed ranged from growth hormone defects (clinical and therapeutic aspects), surgery in disabled children, ethical aspects in the care of premature children, cardiomyopathies (clinical and surgical aspects), kidney and bone disorders, rheumatology, and infant leukaemia.
查看更多>>摘要：Since the first repotted efficacious use of human growth hormone in 1958, numerous children have been treated with this hormone. This review discusses the five indications for use of human growth hormone in children that have been approved to date by the United States Food and Drug Administration.Conclusion: Further, long-term studies will be needed to address the optimal use of this hormone in each of these conditions.
MARCO CAPPAGRAZIAMARIA UBERTINIDIEGO COLABIANCHIROSSANA FIORI...
5页
查看更多>>摘要：Human growth hormone therapy is allowed in certain clinical conditions according to national healthcare criteria,. Growth hormone, however, produces a wide spectrum of effects. Linear growth is only one of the many expected results, and there are interesting possibilities to explore which could provide additional means of improving the quality of life for the ever-increasing numbers of chronic paediatric patients.Conclusion: In this review, we discuss the rationale for and possibility of using growth hormone therapy in some conditions not strictly related to growth hormone deficiency.
查看更多>>摘要：Dilated cardiomyopathy (DCM) is a rate disease in the paediatric population. We analysed the epidemiology, clinical features and role of immunotherapy in the treatment of myocarditis On the basis of experimental evidence, indicating that autoimmunity might play a role in the development of myocarditis, we treated children affected by myocarditis with immunosuppressive therapy, and we present here our series. The future availability of reliable prognostic markers should allow treatment of only those children with myocarditis who do not spontaneously recover, The possibility that DCM with nyocarditis is a distinct pathological entity from the non-inflammatory form of DCM is suggested.Conclusion: The high long-term survival rate observed in our children with myocarditis is probably due to the effect of hort-term immunosuppression. This result is at odds with previously published series of conventionally treated children, hose survival probability at 1 y was approximately 0.60.
查看更多>>摘要：Dilated cardiomyopathy (DCM) is an idiopathic, genetically heterogeneous disorder characterized by heart failure and arrhythmia. Over the past decade, the molecular basis for DCM has been partially uncovered by discovery of mutation in genes encoding cystoskeletal, sarcomeric, nuclear membrane, and sarcoplasmic reticulum proteins. These findings have implicated pathogenic mechanisms whereby structural integrity, contractile force dynamics, and calcium regulation within the cardiac myocyte are perturbed. Recognition of dilated and hypertrophic cardiomyopathies as allelic disorders has provided the opportunity to identify genotype-phenotype relationships and to gain new insight into pathways leading to cardiac failure and hypertrophy.Conclusion: Collectively, family-based studies of DCM provide the rationale for clinical screening in first-degree relatives, regardless of family history or age of the index case. Discovery of novel genes for dilated cardiomyopathy is ongoing and will continue to advance our understanding of the pathobiology of heart failure.
ADRIANO CAROTTISONIA B. ALBANESEROBERTO M. DI DONATO
5页
查看更多>>摘要：Aim: To correlate anatomic and genetic features of paediatric patients with pulmonary atresia, ventricular septal defect (VSD) and multiple aortopulmonary collateral arteries with surgical outcome. Methods: 44 consecutive patients aged 33+40 mo underwent either primary one-stage unifocalization (w =32) or palliative right ventricular outflow tract reconstruction (w = 12) followed by secondary unifocalization and repair (n= 10) based on preoperative morphometric and functional evaluation of pulmonary blood sources. Chromosome 22ql 1.2 microdeletion occurred in 41 % of cases. Combined VSD closure during one-stage procedures was guided by an intraoperative pulmonary flow study. Complete repair was accomplished in 35 cases (83%, 95% CI 72-95%). Variables examined included occurrence of confluent intrapericardial pulmonary arteries, central pulmonary arteries, confluent intraparenchymal pulmonary arteries, dominant collateral or pulmonary arteries, and chromosome 22ql 1.2 microdeletion. The sensitivity and specificity of the pulmonary flow study in predicting postoperative pulmonary haemodynamics were also tested. Results: Eight-year actuarial survival and freedom from reopeiation were 85% and 63%, respectively. Sensitivity and specificity of the pulmonary flow study were 94% and 100%, respectively. None of the anatomical variables examined was significantly related to the outcome of treatment. The only statistically relevant association was detected between survival and occurrence of 22ql 1.2 microdeletion (p <0.003), Logistic analysis showed an increased likelihood of positive outcome in relation to first- (p <0.02) or second-stage (p <0.04) complete correction.Conclusion: Morphology of pulmonary blood supply has no major impact on surgical outcome. Pulmonary flow study is a highly specific and sensitive intraoperative test. Chromosome 22ql 1.2 microdeletion remains the only variable significantly affecting survival.
查看更多>>摘要：Genetic disorders of mineral metabolism cause urolithiasis, renal disease, and osteodystrophy Most are rare, such that the full spectrum of clinical expression is difficult to appreciate. Diagnosis is further complicated by overlap of clinical features. Dent's disease and primary hyper oxaluria, inherited causes of calcium urolithiasis, are both associated with nephrocalcinosis and urolithiasis in early childhood and renal failure that can occur at any age but is seen more often in adulthood. Bone disease is an inconsistent feature of each. Dent's disease is caused by mutations of the CLCN-5 gene with impaired kidney-specific CLC-5 chloride channel expression in the proximal tubule, thick ascending limb of Henle, and the collecting ducts. Resulting hypercalciuria and proximal tubule dysfunction, including phosphate wasting, are primarily responsible for the clinical manifestations. Low-molecular-weight proteinuria is characteristic, Definitive diagnosis is made by DNA mutation analysis. Primary hyper oxaluria, type I, is due to mutations of the AGXT gene leading to deficient hepatic alanine-glyoxylate aminotransferase activity. Marked overproduction of oxalate by hepatic cells results in the hyperoxaluiia responsible for clinical features. Definitive diagnosis is by liver biopsy with measurement of enzyme activity, with DNA mutation analysis used increasingly as mutations and their frequency are defined.Conclusion: These disorders of calcium urolithiasis illustrate the value of molecular medicine for diagnosis and the promise it provides for innovative and more effective future treatments.
查看更多>>摘要：Cystinuria is an autosomal recessive disorder characterized by impaired transport of cystine, lysine, ornithine and arginine in the proximal renal tubule and in the epithelial cells of the gastrointestinal tract, Following recent progress in the genetic understanding of the disease, the traditional classification, based on the excretion of cystine and dibasic amino acids in obligate heterozygotes, may no longer be considered valid. A new classification is therefore needed: type A due to two mutations of SLC3A1 on chromosome 2, and type B due to two mutations of SLC7A9 on chromosome 19. The possibility of a third type, AB, with one mutation on each of the above-mentioned genes, is left open, but is unlikely. Clinical data show that cystinuria is more severe in males than in females in terms of stone production and early age of onset. The two types of cystinuria (A and B) have a similar outcome, A mild renal failure is present in 17% of patients. Medical treatment of this disorder is possible, but requires a composite approach: urine dilution and alkalization, and the use of drugs to form chemical bonds with the sulphydryl domains of the cystine molecule, which lower the amount of free cystine in the urine.Conclusion: Following new achievements in the genetics of cystinuria, a new classification has been proposed. Cystinuria is more severe in males than in females, but only rarely leads to renal insufficiency. The two types of cystinuria have a similar clinical outcome. A combined medical treatment may be effective in reducing renal stone incidence.
EMANUELA CERIATIFRANCESCO DE PEPPOGUIDO CIPRANDIPAOLA MARCHETTI...
4页
查看更多>>摘要：Cerebral palsy (CP) is a non-progressive but not unchanging disorder of movement and/or posture, due to an insult to or anomaly of the developing brain. Gastrointestinal surgery can play a role in the treatment of pathologies frequently associated with a condition of neurological impairment such as gastro-oesophageal reflux disease (antireflux procedure), feeding difficulties (percutaneous endoscopic gastrostomy/jejunostomy) and swallowing difficulties (ligation of salivary gland ducts). Gastro-oesophageal reflux occurs in up to 70-75% of children with cerebral palsy. Children with gastro-oesophageal reflux disease (GERD) may present with feeding difficulties, recurrent vomiting and recurrent chest infection associated with poor growth and nutrition, reactive airway disease particularly nocturnal asthma, choking attacks, anaemia, and wheezing. Nutritional deprivation in children with cerebral palsy is the summation of several factors which result in reduced intake. Percutaneous endoscopic gastrostomy (PEG) has radically changed the handling of children with nutritional problems who, before the introduction of this procedure, were force fed parenterally or enterally, by nasogastric tube, conventional surgical gastrostomy or central venous access. In children with CP, PEG is the preferred technique for long-term enteral feeding. Swallowing dysfunction is the main cause of drooling in cerebral palsy, and medical treatment is often inefficient. Surgical treatment involves neurectomy, translocation of the salivary duct, salivary gland resection or salivary duct (parotid and submandibular) ligation.Conclusion: This review focuses on the role of surgery in managing gastrointestinal aspects in children with CP and, in particular, surgical experience at our department with fundoplication, PEG placement and ligation of salivary ducts.
查看更多>>摘要：Macrophage activation syndrome (MAS) is a rare and potentially lethal complication of chronic rheumatic diseases of childhood, in particular of systemic-onset juvenile idiopathic arthritis (s-JIA), resulting from uncontrolled activation and proliferation of T lymphocytes and macrophages, The onset, acute and dramatic, may mimic a flare of the underlying disease or a severe sepsis. Diagnosis is difficult and, until now, no specific criteria have been developed. Laboratory data show pancytopenia, coagulopathy, low ESR and low concentrations of serum albumin, and high levels of ferritin, liver enzymes and triglycerides. Activated macrophages are found in various organs, particularly in bone marrow. Most hypotheses on the mechanism underlying MAS are based on the data obtained in primary haemophagocytic lymphohistio-cytosis (HLH), a genetic disease very similar to MAS. Prompt diagnosis is essential because prognosis is highly related to early treatment. The first approach was to use intravenous methylprednisolone pulse therapy; cyclosporin A was proposed in patients resistant to steroids. We describe nine patients affected by haemophagocytosis: seven patients developed MAS and two patients developed HLH A child with s-JIA developed three episodes of MAS. After the third episode, as there was no improvement with pulses of methylprednisolone and cyclosporine, he was successfully given etanercept,Conclusion: Our data, together with a similar, published observation, suggest that the TNF inhibitor etanercept is potentially useful for obtaining remission in children not responding to steroids and cyclosporin A.
NSTL