小儿脑血管病的神经影像学诊断

随着影像检查技术的发展 ,特别是磁共振成像 (MRI)的广泛应用 ,可精确区分不同类型的脑血管病 ,提高了小儿脑血管病的检出率 ,对于早期发现、合理的治疗方案的选择起决定性的作用 ,可极大地降低小儿脑血管病的致死率。因此 ,小儿脑血管病的预后较成人脑血管病好 ,但病情严重或治疗不及时 ,可引起日后癫疒间及智能发育障碍。1　小儿缺血性脑血管病常见的小儿缺血性脑血管病有脑动脉闭塞性脑梗死、静脉窦血栓形成、烟雾病和脑动脉炎等。小儿发生上述各种缺血性脑血管病的病因很多 ,尤以感染、先天性心脏病、胶原性疾病和血液病最常见。1 1　…     

Ciliary abnormalities in respiratory disease.

One hundred and sixty seven children, ranging in age from 5 weeks to 16 years, with chronic upper or lower respiratory tract problems, or both, were investigated for ciliary dyskinesia. Abnormal ciliary function was found in 18 cases all of whom had chronic lower respiratory disease and most of whom also had upper respiratory problems. Fifteen of the 18 cases had reduced ciliary beat frequencies (less than 10 Hz) associated with dyskinesia and the other three showed apparent absence of ciliated cells. Of the 15 cases with reduced ciliary beat frequencies, ciliary ultrastructure was normal in seven cases but abnormal with missing dynein arms and occasional abnormalities of microtubular arrangement in eight. Respiratory symptoms in the perinatal period were more common in children with abnormal ciliary function and present in all those with ultrastructural abnormalities or absence of ciliated cells compared with 34 (26%) of 132 children, in whom symptoms were recorded, with normal ciliary function. This study would suggest that all children with unexplained chronic respiratory disease, in particular those with symptoms starting in the perinatal period, should be investigated for ciliary dyskinesia.     

Coagulation abnormalities in children with Celiac disease

We prospectively analyzed the coagulation abnormalities in 111 children with Celiac disease at diagnosis and its association with histology grade on duodenal biopsy; 27% had deranged prothrombin time. There was an increasing proportion of coagulopathy with progression of Marsh Grade on duodenal histology.     

Bone abnormalities in gastrointestinal and hepatic disease.

Bone is a dynamic tissue that undergoes constant remodeling in response to local and environmental stimuli. Bone mass is maintained by this delicate equilibrium between bone formation and bone resorption. In growing children, the balance is tilted toward bone formation until peak bone mass is achieved in the second decade of life. Alterations in bone metabolism can result in decreased bone mass (osteopenia and osteoporosis) or impaired mineralization of the bone protein matrix (rickets and osteomalacia). Diseases of the alimentary tract such as celiac disease, inflammatory bowel diseases, gastrectomy, cholestatic liver diseases, liver transplantation, and hepatitis C can affect bone mineralization, remodeling, or bone mass. This article presents a summary of recent reports concerning bone disorders associated with disorders of the liver and gastrointestinal tract.     

Novel biochemical abnormalities and genotype in Farber disease

Farber disease caused by acid ceramidase deficiency is characterised by a triad of painful and swollen joints, subcutaneous nodules, and laryngeal involvement. A one year old female with overlapping features of the classical and type 5 variants is reported. Sialuria and elevated plasma chitotriosidase were unusual findings. A novel mutation of the ASAH 1 gene was detected from DNA extracted from the umbilical stump.     

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??Abstract??Though interstitial lung disease ??ILD?? can occur at any age in children?? disorders more common in infancy and young children have received increased attention as an important group that is disproportionally affected?? linked to lung development and lung injury?? and represents disorders not seen in adult ILD. The specific disorders causesd by alveolar growth abnormalities??AGA?? is the most common in infancy. The presentation?? evaluation?? treatment?? and clinical course in infants are discussed in infants in this paper.     

Contralateral renal abnormalities in multicystic-dysplastic kidney disease.

Multicystic-dysplastic kidney (MCDK) disease has been associated with contralateral genitourinary tract abnormalities; however, neither the nature nor the prevalence of the contralateral renal lesion has been delineated. We retrospectively studied patients with MCDK disease to determine the prevalence of contralateral renal abnormalities and of other urologic anomalies. Forty-nine patients, ranging in age from neonates to 6 years, were examined by renal ultrasonography, excretory urography or nuclear medicine scanning, and voiding cystourethrography; 51% of the patients had an associated urologic abnormality. The abnormality was contralateral to the MCDK in 19 patients (39%), ipsilateral in 3 patients (6%), and involved the bladder wall in 3 patients (6%). The most common contralateral genitourinary tract abnormality was vesicoureteral reflux (18%) followed by ureteropelvic junction obstruction (12%). We conclude that urologic anomalies are common in patients with MCDK disease; contralateral vesicoureteral reflux is the most common abnormality identified.     

Neuroimaging in mental retardation

Objective : To determine the diagnostic yield of neuroimaging ina cohort of children with mental retardation of unknown origin.Methods: Neuroimaging was performed in a total of 47 patients with developmental delay/mental retardation, where no etiologic diagnosis could be made following clinical examination and preliminary investigations.Results : Thirty (63.82%) children had abnormal neuroimaging findings of which 19 (42.42%) were specific abnormalities useful in arriving at etiological diagnosis. Positive outcome of neuroimaging increased with the severity of mental retardation and in presence of microcephaly and neurologic deficits other than mental retardation.Conclusion : Neuroimaging should be the standard clinical practice for a child with global developmental delay where no cause is apparent after examination and relevant investigations.     

Coagulation abnormalities in type 1 Gaucher disease in children

Gaucher disease is the most prevalent inherited lysosomal storage disorder caused by deficiency of β-glucocerebrosidase enzyme. Clinically, 3 forms of Gaucher disease are recognized, of which type 1 is the mild to moderately severe, slowly progressive, nonneuropathic form. Bleeding disorders in Gaucher disease are believed to be due to thrombocytopenia but there may be additional factors that influence coagulation and fibrinolysis in Gaucher disease patients. The aim of the present work was to study some coagulation parameters in the Egyptian children with type 1 Gaucher disease. Five newly diagnosed patients and another 5 patients on enzyme replacement therapy (ERT) were enrolled in the study. Their coagulation profile, including coagulation factors, was evaluated. The results showed that in newly diagnosed cases factors II and VII were deficient in 40%, factor V was deficient in 20%, and all the cases had low levels of serum fibrinogen. In patients on ERT, factors VII and VIII were deficient in 60%, factor XI was deficient in 40% and factors V, X, and XII were deficient in 20% of cases. In conclusion, Egyptian patients with type 1 Gaucher disease, whether newly diagnosed or receiving enzyme replacement therapy, experience coagulation factor abnormalities regardless the clinical expression of bleeding diathesis. This should be taken into consideration before these patients are subjected to surgery for, e.g., splenectomy, which is common in these patients.     

川崎病冠状动脉病变与内皮功能障碍

<正> 川崎病(Kawasaki disease,KD)由日本川崎富作医师于1961年首次发现,随后在许多国家都有病例报导。起初认为本病是一种自限性的出疹性热病,随着临床研究的深入,许多研究者认为:KD是一种微生物毒素以超抗原介导机制所引起的免疫性血管炎综合征,幼儿高发。KD的主要危险是其心脏并发症。KD目前已取代风湿热,成为儿童后天性心脏病的主要病因。     

Extracardiac abnormalities in infants with congenital heart disease.

Extracardiac anomalies (ECA) occur in 25% of infants seen during the first year of life for significant cardiac disease. Often the ECA are multiple and one third of the affected infants have some established syndrome. In infants with endocardial cushion defect, patent ductus arteriosus, atrial septal defect, ventricular septal defect, malpositions, tetralogy of Fallot, and complex coarctation ECA occur in 25% or more of the cases. The most frequent ECA are in the musculoskeletal system or associated with a specific syndrome. The presence of an ECA significantly increases the mortality in infants with CHD.